# annotation

uniprotID: Q92820
geneSymbol: GGH
reactome: R-HSA-6798695;
pdb: 1L9X;
name: Gamma-glutamyl hydrolase (EC 3.4.19.9) (Conjugase) (GH) (Gamma-Glu-X carboxypeptidase)
length: 318
go: ENSG00000137563;
drug: DB00158;DB00563;
snps: rs1800909 rs11545077 rs11545078
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; melanosome [GO:0042470]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; vacuole [GO:0005773]; exopeptidase activity [GO:0008238]; gamma-glutamyl-peptidase activity [GO:0034722]; omega peptidase activity [GO:0008242]; neutrophil degranulation [GO:0043312]; response to ethanol [GO:0045471]; response to insulin [GO:0032868]; response to zinc ion [GO:0010043]; tetrahydrofolylpolyglutamate metabolic process [GO:0046900]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000305}. Lysosome {ECO:0000269|PubMed:12643545}. Melanosome {ECO:0000269|PubMed:12643545}. Note=While its intracellular location is primarily the lysosome, most of the enzyme activity is secreted. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12643545}.


uniprotID: O75603
geneSymbol: GCM2
length: 506
go: ENSG00000124827;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20190276}.
name:
Chorion-specific transcription factor GCMb (hGCMb) (GCM motif protein 2) (Glial cells missing homolog 2)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; cellular calcium ion homeostasis [GO:0006874]; cellular phosphate ion homeostasis [GO:0030643]; multicellular organism development [GO:0007275]; parathyroid gland development [GO:0060017]; transcription by RNA polymerase II [GO:0006366]

snps:
rs104893959 rs11963186 rs104893960 rs780594439 rs35786951 rs7744163 rs35395043 rs1057519581 rs61734277 rs114070356 rs1057519582 rs371918069 rs142287570 rs533942394 


uniprotID: Q9H227
geneSymbol: GBA3
reactome: R-HSA-1660662;
pdb: 2E9L;2E9M;2JFE;2ZOX;3VKK;
name: Cytosolic beta-glucosidase (EC 3.2.1.21) (Cytosolic beta-glucosidase-like protein 1)
length: 469
snps: rs36090352 rs17612341 rs16873108
sequence:

opentargets:
catalytic complex [GO:1902494]; cytosol [GO:0005829]; beta-galactosidase activity [GO:0004565]; beta-glucosidase activity [GO:0008422]; glucosylceramidase activity [GO:0004348]; glycosylceramidase activity [GO:0017042]; scopolin beta-glucosidase activity [GO:0102483]; cellular oligosaccharide catabolic process [GO:0051692]; glycoside catabolic process [GO:0016139]; glycosphingolipid metabolic process [GO:0006687]; glycosylceramide catabolic process [GO:0046477]; positive regulation of exo-alpha-sialidase activity [GO:1903017]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H227-1; Sequence=Displayed; Name=2; IsoId=Q9H227-2; Sequence=VSP_015835; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12594539, ECO:0000269|PubMed:17595169}.


uniprotID: Q9NPG1
geneSymbol: FZD3
reactome: R-HSA-373080;R-HSA-4086398;R-HSA-4086400;R-HSA-4608870;
name: Frizzled-3 (Fz-3) (hFz3)
length: 666
go: ENSG00000104290;
snps: rs140115204 rs757589666 rs199839949
sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon [GO:0030424]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; filopodium tip [GO:0032433]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; G protein-coupled receptor activity [GO:0004930]; PDZ domain binding [GO:0030165]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; canonical Wnt signaling pathway [GO:0060070]; cell proliferation in midbrain [GO:0033278]; commissural neuron axon guidance [GO:0071679]; dopaminergic neuron axon guidance [GO:0036514]; establishment of planar polarity [GO:0001736]; hair follicle development [GO:0001942]; inner ear morphogenesis [GO:0042472]; midbrain morphogenesis [GO:1904693]; negative regulation of execution phase of apoptosis [GO:1900118]; negative regulation of mitotic cell cycle, embryonic [GO:0045976]; neural tube closure [GO:0001843]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; non-canonical Wnt signaling pathway [GO:0035567]; planar cell polarity pathway involved in axon guidance [GO:1904938]; positive regulation of neuroblast proliferation [GO:0002052]; post-anal tail morphogenesis [GO:0036342]; response to drug [GO:0042493]; response to electrical stimulus [GO:0051602]; serotonergic neuron axon guidance [GO:0036515]; sympathetic ganglion development [GO:0061549]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9NPG1-1; Sequence=Displayed; Name=Short; Synonyms=FZD3deltaC; IsoId=Q9NPG1-2; Sequence=Not described; 

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell surface {ECO:0000250|UniProtKB:Q61086}. Apical cell membrane {ECO:0000250|UniProtKB:Q61086}; Multi-pass membrane protein. Note=Colocalizes with FZD6 at the apical face of the cell (By similarity). {ECO:0000250|UniProtKB:Q61086}.


uniprotID: A6NCL1
geneSymbol: GMNC
pdb: 5C9N;
name: Geminin coiled-coil domain-containing protein 1
length: 334
go: ENSG00000205835;
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; cell cycle [GO:0007049]; cell proliferation [GO:0008283]; cilium assembly [GO:0060271]; DNA replication initiation [GO:0006270]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Associates with chromatin during pre-replication complex (pre-RC) formation. {ECO:0000250}.


uniprotID: Q9NXN4
geneSymbol: GDAP2
pdb: 4UML;
name: Ganglioside-induced differentiation-associated protein 2
length: 497
go: ENSG00000196505;
opentargets: lysosomal membrane [GO:0005765]; response to retinoic acid [GO:0032526]
snps: rs12752437 rs12753610 rs12145577 rs34924570
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXN4-1; Sequence=Displayed; Name=2; IsoId=Q9NXN4-2; Sequence=VSP_033186; 


uniprotID: P31150
geneSymbol: GDI1
reactome: R-HSA-194840;R-HSA-8876198;
length: 447
go: ENSG00000203879;
snps: rs121434607 rs121434609
name:
Rab GDP dissociation inhibitor alpha (Rab GDI alpha) (Guanosine diphosphate dissociation inhibitor 1) (GDI-1) (Oligophrenin-2) (Protein XAP-4)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; midbody [GO:0030496]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; protein-containing complex [GO:0032991]; GDP-dissociation inhibitor activity [GO:0005092]; GTPase activator activity [GO:0005096]; Rab GDP-dissociation inhibitor activity [GO:0005093]; Rab GTPase binding [GO:0017137]; negative regulation of axonogenesis [GO:0050771]; negative regulation of protein targeting to membrane [GO:0090315]; positive regulation of axon extension [GO:0045773]; protein transport [GO:0015031]; Rab protein signal transduction [GO:0032482]; regulation of small GTPase mediated signal transduction [GO:0051056]; response to calcium ion [GO:0051592]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19570034}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:19570034}.


uniprotID: Q9NXC2
geneSymbol: GFOD1
name: Glucose-fructose oxidoreductase domain-containing protein 1 (EC 1.-.-.-)
length: 390
go: ENSG00000145990;
opentargets: extracellular region [GO:0005576]; oxidoreductase activity [GO:0016491]
snps: rs766773
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXC2-1; Sequence=Displayed; Name=2; IsoId=Q9NXC2-2; Sequence=VSP_024261; Note=No experimental confirmation available.; Name=3; IsoId=Q9NXC2-3; Sequence=VSP_041468; Note=No experimental confirmation available. Dubious isoform.; 


uniprotID: A0A0C4DH31
geneSymbol: IGHV1-18
name: Immunoglobulin heavy variable 1-18
length: 117
go: ENSG00000211945;
sequence:
MDWTWSILFLVAAATGAHSQVQLVQSGAEVKKPGASVKVSCKASGYTFTSYGISWVRQAPGQGLEWMGWISAYNGNTNYAQKLQGRVTMTTDTSTSTAYMELRSLRSDDTAVYYCAR


uniprotID: Q6KF10
geneSymbol: GDF6
length: 455
go: ENSG00000156466;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23307924}.
name:
Growth/differentiation factor 6 (GDF-6) (Bone morphogenetic protein 13) (BMP-13) (Growth/differentiation factor 16)

sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein homodimerization activity [GO:0042803]; transforming growth factor beta receptor binding [GO:0005160]; activin receptor signaling pathway [GO:0032924]; apoptotic process [GO:0006915]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; fat cell differentiation [GO:0045444]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; retinal cell apoptotic process [GO:1990009]; SMAD protein signal transduction [GO:0060395]

snps:
rs121909354 rs397514725 rs2245091 rs140579014 rs387906794 rs121909352 rs121909355 rs63751220 rs121909356 rs121909353 


uniprotID: Q7Z4P5
geneSymbol: GDF7
name: Growth/differentiation factor 7 (GDF-7)
length: 450
go: ENSG00000143869;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein homodimerization activity [GO:0042803]; transforming growth factor beta receptor binding [GO:0005160]; activin receptor signaling pathway [GO:0032924]; axon guidance [GO:0007411]; BMP signaling pathway [GO:0030509]; branching morphogenesis of an epithelial tube [GO:0048754]; cell development [GO:0048468]; cell fate commitment [GO:0045165]; epithelial cell differentiation [GO:0030855]; forebrain morphogenesis [GO:0048853]; gland morphogenesis [GO:0022612]; midbrain development [GO:0030901]; morphogenesis of an epithelial fold [GO:0060571]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of tendon cell differentiation [GO:2001051]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; reproductive structure development [GO:0048608]; roof plate formation [GO:0021509]; SMAD protein signal transduction [GO:0060395]; spinal cord association neuron differentiation [GO:0021527]


uniprotID: Q8TF64
geneSymbol: GIPC3
name: PDZ domain-containing protein GIPC3
length: 312
go: ENSG00000179855;
snps: rs763523474 rs387907002 rs761543680 rs387907001 rs387906999
sequence:


uniprotID: Q8N7Z2
geneSymbol: GOLGA6L1
name: Golgin subfamily A member 6-like protein 1
length: 668
go: ENSG00000273976;
sequence:


uniprotID: Q8N9W4
geneSymbol: GOLGA6L2
name: Golgin subfamily A member 6-like protein 2
length: 909
go: ENSG00000174450;
snps: rs2344900 rs3866720 rs2344899 rs4778531 rs12594944
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q8N9W4-3; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on partial mRNA and EST data.; Name=1; IsoId=Q8N9W4-1; Sequence=VSP_059653, VSP_059654; Note=No experimental confirmation available.; Name=2; IsoId=Q8N9W4-2; Sequence=VSP_059650, VSP_059651, VSP_059652; Note=No experimental confirmation available.; 


uniprotID: A0A0B4J1V0
geneSymbol: IGHV3-15
name: Immunoglobulin heavy variable 3-15
length: 119
go: ENSG00000211943;
sequence:
MEFGLSWIFLAAILKGVQCEVQLVESGGGLVKPGGSLRLSCAASGFTFSNAWMSWVRQAPGKGLEWVGRIKSKTDGGTTDYAAPVKGRFTISRDDSKNTLYLQMNSLKTEDTAVYYCTT


uniprotID: A0A0B4J1X8
geneSymbol: IGHV3-43
name: Immunoglobulin heavy variable 3-43
length: 118
go: ENSG00000232216;
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGVVVQPGGSLRLSCAASGFTFDDYTMHWVRQAPGKGLEWVSLISWDGGSTYYADSVKGRFTISRDNSKNSLYLQMNSLRTEDTALYYCAKD


uniprotID: P01767
geneSymbol: IGHV3-53
name: Immunoglobulin heavy variable 3-53 (Ig heavy chain V-III region BUT)
length: 116
go: ENSG00000211967;
sequence:
MEFWLSWVFLVAISKGVQCEVQLVETGGGLIQPGGSLRLSCAASGFTVSSNYMSWVRQAPGKGLEWVSVIYSGGSTYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAR


uniprotID: Q7Z4J2
geneSymbol: GLT6D1
length: 276
drug: DB02379;DB04465;DB01861;DB03435;DB03685;
snps: rs35762223 rs17040344
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Putative glycosyltransferase 6 domain-containing protein 1 (EC 2.4.1.-) (Galactosyltransferase family 6 domain-containing 1)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; vesicle [GO:0031982]; transferase activity, transferring glycosyl groups [GO:0016757]; transferase activity, transferring hexosyl groups [GO:0016758]; carbohydrate metabolic process [GO:0005975]; lipid glycosylation [GO:0030259]


uniprotID: Q8TBA6
geneSymbol: GOLGA5
reactome: R-HSA-6811438;
length: 731
go: ENSG00000066455;
snps: rs17128572 rs34139657
name:
Golgin subfamily A member 5 (Cell proliferation-inducing gene 31 protein) (Golgin-84) (Protein Ret-II) (RET-fused gene 5 protein)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; Golgi apparatus [GO:0005794]; Golgi cisterna [GO:0031985]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; transport vesicle [GO:0030133]; protein homodimerization activity [GO:0042803]; Rab GTPase binding [GO:0017137]; Golgi organization [GO:0007030]; Golgi vesicle transport [GO:0048193]; retrograde transport, vesicle recycling within Golgi [GO:0000301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBA6-1; Sequence=Displayed; Name=2; IsoId=Q8TBA6-2; Sequence=VSP_007731, VSP_007732; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:9915833}; Single-pass type IV membrane protein {ECO:0000269|PubMed:9915833}. Note=Found throughout the Golgi, both on cisternae and, at higher abundance, on the tubulo-vesicular structures of the cis-Golgi network.


uniprotID: P30968
geneSymbol: GNRHR
reactome: R-HSA-375281;R-HSA-416476;
name: Gonadotropin-releasing hormone receptor (GnRH receptor) (GnRH-R)
length: 328
go: ENSG00000109163;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; gonadotropin-releasing hormone receptor activity [GO:0004968]; cellular response to hormone stimulus [GO:0032870]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]

drug:
DB00106;DB06719;DB00050;DB01406;DB06699;DB06785;DB00644;DB00014;DB06788;DB00007;DB00666;DB05694;DB06825;

snps:
rs104893843 rs774317793 rs886907903 rs1391808526 rs104893844 rs104893836 rs104893838 rs104893842 rs144900788 rs104893840 rs74452732 rs104893839 rs104893837 rs148499544 rs28933074 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30968-1; Sequence=Displayed; Name=2; Synonyms=Truncated; IsoId=P30968-2; Sequence=VSP_001914; 


uniprotID: Q9BXV9
geneSymbol: GON7
name: EKC/KEOPS complex subunit GON7
length: 100
go: ENSG00000170270;
opentargets: EKC/KEOPS complex [GO:0000408]; nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27903914}.
sequence:
MELLGEYVGQEGKPQKLRVSCEAPGDGDPFQGLLSGVAQMKDMVTELFDPLVQGEVQHRVAAAPDEDLDGDDEDDAEDENNIDNRTNFDGPSAKRPKTPS


uniprotID: Q8TDV5
geneSymbol: GPR119
reactome: R-HSA-381771;R-HSA-400511;
name: Glucose-dependent insulinotropic receptor (G-protein coupled receptor 119)
length: 335
go: ENSG00000147262;
drug: DB05166;
snps: rs5975187
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled receptor activity [GO:0004930]; phosphatidylcholine binding [GO:0031210]; insulin secretion [GO:0030073]


uniprotID: Q8NBJ4
geneSymbol: GOLM1
reactome: R-HSA-381426;R-HSA-8957275;
name: Golgi membrane protein 1 (Golgi membrane protein GP73) (Golgi phosphoprotein 2)
length: 401
go: ENSG00000135052;
snps: rs2297002
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; cellular protein metabolic process [GO:0044267]; nucleus organization [GO:0006997]; post-translational protein modification [GO:0043687]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q8NBJ4-1; Sequence=Displayed; Name=2; IsoId=Q8NBJ4-2; Sequence=VSP_018782; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:10831838, ECO:0000269|PubMed:12191016}; Single-pass type II membrane protein {ECO:0000269|PubMed:10831838, ECO:0000269|PubMed:12191016}. Note=Early Golgi. Cycles via the cell surface and endosomes upon lumenal pH disruption.


uniprotID: O14653
geneSymbol: GOSR2
reactome: R-HSA-204005;R-HSA-381038;R-HSA-5694530;R-HSA-6807878;R-HSA-6811438;
pdb: 3EG9;
name: Golgi SNAP receptor complex member 2 (27 kDa Golgi SNARE protein) (Membrin)
length: 212
go: ENSG00000108433;
snps: rs197922 rs387906881
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; SNARE complex [GO:0031201]; SNAP receptor activity [GO:0005484]; SNARE binding [GO:0000149]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi to vacuole transport [GO:0006896]; intra-Golgi vesicle-mediated transport [GO:0006891]; IRE1-mediated unfolded protein response [GO:0036498]; protein targeting to vacuole [GO:0006623]; retrograde transport, endosome to Golgi [GO:0042147]; vesicle fusion with Golgi apparatus [GO:0048280]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=O14653-1; Sequence=Displayed; Name=B; IsoId=O14653-2; Sequence=VSP_001829; Name=3; IsoId=O14653-3; Sequence=VSP_043200; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:21549339}; Single-pass type IV membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:9349823}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:O35165}. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus. {ECO:0000250|UniProtKB:O35165}.


uniprotID: Q9H4A6
geneSymbol: GOLPH3
pdb: 3KN1;
name: Golgi phosphoprotein 3 (Coat protein GPP34) (Mitochondrial DNA absence factor) (MIDAS)
length: 298
go: ENSG00000113384;
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; Golgi cisterna [GO:0031985]; Golgi cisterna membrane [GO:0032580]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; enzyme binding [GO:0019899]; phosphatidylinositol-4-phosphate binding [GO:0070273]; asymmetric Golgi ribbon formation [GO:0090164]; cell adhesion molecule production [GO:0060352]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; gene expression [GO:0010467]; glycoprotein biosynthetic process [GO:0009101]; Golgi organization [GO:0007030]; Golgi ribbon formation [GO:0090161]; Golgi to plasma membrane protein transport [GO:0043001]; Golgi vesicle budding [GO:0048194]; lamellipodium assembly [GO:0030032]; leukocyte tethering or rolling [GO:0050901]; negative regulation of apoptotic process [GO:0043066]; positive regulation of protein secretion [GO:0050714]; positive regulation of TOR signaling [GO:0032008]; protein retention in Golgi apparatus [GO:0045053]; protein secretion [GO:0009306]; regulation of mitochondrion organization [GO:0010821]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein; Cytoplasmic side. Mitochondrion intermembrane space. Cell membrane {ECO:0000250}. Endosome {ECO:0000250}. Note=Phosphatidylinositol 4-phosphate-binding and oligomerization participate in the recruitment onto Golgi membranes. {ECO:0000305}.


uniprotID: Q7Z601
geneSymbol: GPR142
name: Probable G-protein coupled receptor 142 (G-protein coupled receptor PGR2)
length: 462
go: ENSG00000257008;
snps: rs2382647
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]


uniprotID: Q9H8Y8
geneSymbol: GORASP2
reactome: R-HSA-162658;
pdb: 3RLE;4EDJ;
length: 452
go: ENSG00000115806;
snps: rs3770436
name:
Golgi reassembly-stacking protein 2 (GRS2) (Golgi phosphoprotein 6) (GOLPH6) (Golgi reassembly-stacking protein of 55 kDa) (GRASP55) (p59)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; cell differentiation [GO:0030154]; Golgi organization [GO:0007030]; organelle assembly [GO:0070925]; organelle organization [GO:0006996]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H8Y8-1; Sequence=Displayed; Name=2; IsoId=Q9H8Y8-2; Sequence=VSP_011300; Name=3; IsoId=Q9H8Y8-3; Sequence=VSP_054364; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:10487747, ECO:0000269|PubMed:11101516, ECO:0000269|PubMed:27062250}; Lipid-anchor {ECO:0000269|PubMed:11101516}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:27062250}. Golgi apparatus {ECO:0000269|PubMed:28067262}. Note=Detected in the intermediate Golgi, membrane-associated (By similarity). ER stress triggers its relocalization from Golgi to ER membrane (PubMed:27062250, PubMed:28067262). {ECO:0000250|UniProtKB:Q9R064, ECO:0000269|PubMed:27062250, ECO:0000269|PubMed:28067262}.


uniprotID: Q5T848
geneSymbol: GPR158
name: Probable G-protein coupled receptor 158
length: 1215
go: ENSG00000151025;
snps: rs2480345 rs10828833
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; protein localization to plasma membrane [GO:0072659]


uniprotID: P07359
geneSymbol: GP1BA
reactome: R-HSA-140837;R-HSA-430116;R-HSA-75892;R-HSA-76009;R-HSA-8936459;
pdb: 1GWB;1K13;1M0Z;1M10;1OOK;1P8V;1P9A;1QYY;1SQ0;1U0N;2BP3;3P72;3PMH;4C2A;4C2B;4CH2;4CH8;4MGX;4YR6;
length: 652
go: ENSG00000185245;
drug: DB05202;DB05391;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Platelet glycoprotein Ib alpha chain (GP-Ib alpha) (GPIb-alpha) (GPIbA) (Glycoprotein Ibalpha) (Antigen CD42b-alpha) (CD antigen CD42b) [Cleaved into: Glycocalicin]

sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; thrombin-activated receptor activity [GO:0015057]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; cell adhesion [GO:0007155]; cell morphogenesis [GO:0000902]; cell surface receptor signaling pathway [GO:0007166]; fibrinolysis [GO:0042730]; platelet activation [GO:0030168]; platelet aggregation [GO:0070527]; regulation of blood coagulation [GO:0030193]; regulation of megakaryocyte differentiation [GO:0045652]

snps:
rs6068 rs121908063 rs781541857 rs13306411 rs771048666 rs6065 rs121908065 rs121908062 rs382524 rs121908064 


uniprotID: P55010
geneSymbol: EIF5
reactome: R-HSA-72702;R-HSA-72706;
pdb: 2E9H;2G2K;2IU1;
name: Eukaryotic translation initiation factor 5 (eIF-5)
length: 431
go: ENSG00000100664;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; eukaryotic initiation factor eIF2 binding [GO:0071074]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; activation of GTPase activity [GO:0090630]; formation of translation preinitiation complex [GO:0001731]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]


uniprotID: Q15760
geneSymbol: GPR19
name: Probable G-protein coupled receptor 19 (GPR-NGA)
length: 415
go: ENSG00000183150;
snps: rs4763862
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O00155
geneSymbol: GPR25
reactome: R-HSA-418555;
name: Probable G-protein coupled receptor 25
length: 361
go: ENSG00000170128;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O00270
geneSymbol: GPR31
reactome: R-HSA-418594;R-HSA-444209;
length: 319
go: ENSG00000120436;
snps: rs6902566
name:
12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor (12-(S)-HETE receptor) (12-HETER) (G-protein coupled receptor 31)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21712392}; Multi-pass membrane protein {ECO:0000269|PubMed:21712392}.


uniprotID: O15529
geneSymbol: GPR42
name: G-protein coupled receptor 42
length: 346
go: ENSG00000126251;
snps: rs878906072 rs423385 rs424241 rs403989 rs424715 rs381478
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9Y5Y3
geneSymbol: GPR45
reactome: R-HSA-418555;
name: Probable G-protein coupled receptor 45 (PSP24-1) (PSP24-alpha)
length: 372
go: ENSG00000135973;
snps: rs35946826
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96P67
geneSymbol: GPR82
name: Probable G-protein coupled receptor 82
length: 336
go: ENSG00000171657;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NNB3
geneSymbol: IFITM5
length: 132
go: ENSG00000206013;
snps: rs57285449 rs786201032
name:
Interferon-induced transmembrane protein 5 (Bone-restricted interferon-induced transmembrane protein-like protein) (BRIL) (Dispanin subfamily A member 1) (DSPA1)

sequence:
MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFSTLYLNLCCLGFLALAYSIKARDQKVVGDLEAARRFGSKAKCYNILAAMWTLVPPLLLLGLVVTGALHLARLAKDSAAFFSTKFDDADYD

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bone mineralization [GO:0030282]; bone morphogenesis [GO:0060349]; in utero embryonic development [GO:0001701]; regulation of bone mineralization [GO:0030500]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24519609}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9H9Y4
geneSymbol: GPN2
name: GPN-loop GTPase 2 (ATP-binding domain 1 family member B)
length: 310
go: ENSG00000142751;
opentargets: GTP binding [GO:0005525]; GTPase activity [GO:0003924]
snps: rs17856257 rs3170660
sequence:


uniprotID: P01562
geneSymbol: IFNA1; IFNA13
reactome: R-HSA-909733;R-HSA-912694;R-HSA-933541;R-HSA-983231;
pdb: 3UX9;
name: Interferon alpha-1/13 (IFN-alpha-1/13) (Interferon alpha-D) (LeIF D)
length: 189
go: ENSG00000197919;
snps: rs1758567 rs2230050 rs28383794
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MASPFALLMVLVVLSCKSSCSLGCDLPETHSLDNRRTLMLLAQMSRISPSSCLMDRHDFGFPQEEFDGNQFQKAPAISVLHELIQQIFNLFTTKDSSAAWDEDLLDKFCTELYQQLNDLEACVMQEERVGETPLMNADSILAVKKYFRRITLYLTEKKYSPCAWEVVRAEIMRSLSLSTNLQERLRRKE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; blood coagulation [GO:0007596]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; natural killer cell activation involved in immune response [GO:0002323]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; response to exogenous dsRNA [GO:0043330]; T cell activation involved in immune response [GO:0002286]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9H3H5
geneSymbol: DPAGT1
reactome: R-HSA-446193;R-HSA-4549356;
pdb: 5LEV;5O5E;6BW5;6BW6;6FM9;6FWZ;
length: 408
go: ENSG00000172269;
snps: rs376039938 rs387907243 rs387907244 rs762676399 rs28934876 rs768464558 rs387907245 rs643788
name:
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC 2.7.8.15) (GlcNAc-1-P transferase) (G1PT) (GPT) (N-acetylglucosamine-1-phosphate transferase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; phospho-N-acetylmuramoyl-pentapeptide-transferase activity [GO:0008963]; transferase activity, transferring glycosyl groups [GO:0016757]; UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity [GO:0003975]; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity [GO:0003976]; dolichol metabolic process [GO:0019348]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; dolichyl diphosphate biosynthetic process [GO:0006489]; protein complex oligomerization [GO:0051259]; protein N-linked glycosylation [GO:0006487]; UDP-N-acetylglucosamine metabolic process [GO:0006047]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H3H5-1; Sequence=Displayed; Name=2; IsoId=Q9H3H5-2; Sequence=VSP_001803; Note=No experimental confirmation available.; Name=3; IsoId=Q9H3H5-3; Sequence=VSP_008886; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein {ECO:0000269|PubMed:29459785}.


uniprotID: Q9HCN6
geneSymbol: GP6
reactome: R-HSA-114604;R-HSA-202733;R-HSA-75892;
pdb: 2GI7;5OU7;5OU8;5OU9;
name: Platelet glycoprotein VI (GPVI) (Glycoprotein 6)
length: 339
go: ENSG00000088053;
snps: rs199588110 rs387906919 rs1613662 rs1654416 rs2304167 rs1654413 rs1671152 rs1654412
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; tetraspanin-enriched microdomain [GO:0097197]; collagen binding [GO:0005518]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; blood coagulation [GO:0007596]; enzyme linked receptor protein signaling pathway [GO:0007167]; leukocyte migration [GO:0050900]; platelet activation [GO:0030168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=VI-1; IsoId=Q9HCN6-1; Sequence=Displayed; Name=2; Synonyms=VI-2; IsoId=Q9HCN6-2; Sequence=VSP_017879; Name=3; Synonyms=VI-3; IsoId=Q9HCN6-3; Sequence=VSP_017880; Note=Has no transmembrane domain. Does not interact with Fc receptor gamma chain. Does not bind to collagen-like peptides. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass membrane protein.


uniprotID: P40197
geneSymbol: GP5
reactome: R-HSA-140837;R-HSA-430116;R-HSA-75892;R-HSA-76009;
name: Platelet glycoprotein V (GPV) (Glycoprotein 5) (CD antigen CD42d)
length: 560
go: ENSG00000178732;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; cell adhesion [GO:0007155]; platelet activation [GO:0030168]


uniprotID: P47775
geneSymbol: GPR12
name: G-protein coupled receptor 12
length: 334
go: ENSG00000132975;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; phosphatidylcholine binding [GO:0031210]; cellular calcium ion homeostasis [GO:0006874]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P49685
geneSymbol: GPR15
reactome: R-HSA-418555;
name: G-protein coupled receptor 15 (Brother of Bonzo) (BoB)
length: 360
go: ENSG00000154165;
snps: rs2230344 rs35320046
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; coreceptor activity [GO:0015026]; G protein-coupled receptor activity [GO:0004930]; virus receptor activity [GO:0001618]; G protein-coupled receptor signaling pathway [GO:0007186]; T cell migration [GO:0072678]; viral entry into host cell [GO:0046718]


uniprotID: Q96SL4
geneSymbol: GPX7
reactome: R-HSA-3299685;
pdb: 2P31;
name: Glutathione peroxidase 7 (GPx-7) (GSHPx-7) (EC 1.11.1.9) (CL683)
length: 187
go: ENSG00000116157;
drug: DB00143;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MVAATVAAAWLLLWAAACAQQEQDFYDFKAVNIRGKLVSLEKYRGSVSLVVNVASECGFTDQHYRALQQLQRDLGPHHFNVLAFPCNQFGQQEPDSNKEIESFARRTYSVSFPMFSKIAVTGTGAHPAFKYLAQTSGKEPTWNFWKYLVAPDGKVVGAWDPTVSVEEVRPQITALVRKLILLKREDL

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; catalase activity [GO:0004096]; glutathione peroxidase activity [GO:0004602]; peroxidase activity [GO:0004601]; cellular response to oxidative stress [GO:0034599]


uniprotID: Q13588
geneSymbol: GRAP
reactome: R-HSA-1433557;
name: GRB2-related adapter protein
length: 217
go: ENSG00000154016;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; SH3/SH2 adaptor activity [GO:0005070]; cell-cell signaling [GO:0007267]; Ras protein signal transduction [GO:0007265]


uniprotID: P62993
geneSymbol: GRB2
name: Growth factor receptor-bound protein 2 (Adapter protein GRB2) (Protein Ash) (SH2/SH3 adapter GRB2)
length: 217
go: ENSG00000177885;
drug: DB00061;
reactome:
R-HSA-109704;R-HSA-112412;R-HSA-1236382;R-HSA-1250196;R-HSA-1250347;R-HSA-1257604;R-HSA-1295596;R-HSA-1433557;R-HSA-1433559;R-HSA-167044;R-HSA-179812;R-HSA-180292;R-HSA-180336;R-HSA-182971;R-HSA-1839117;R-HSA-186763;R-HSA-1963640;R-HSA-1963642;R-HSA-2029482;R-HSA-210993;R-HSA-2179392;R-HSA-2219530;R-HSA-2424491;R-HSA-2428933;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-354194;R-HSA-375165;R-HSA-388841;R-HSA-389359;R-HSA-391160;R-HSA-512988;R-HSA-5637810;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-5663213;R-HSA-5673001;R-HSA-6807004;R-HSA-6811558;R-HSA-74749;R-HSA-74751;R-HSA-8851805;R-HSA-8851907;R-HSA-8853334;R-HSA-8853338;R-HSA-8853659;R-HSA-8856825;R-HSA-8856828;R-HSA-8865999;R-HSA-8875360;R-HSA-8875555;R-HSA-8875656;R-HSA-8983432;R-HSA-9026519;R-HSA-9028335;R-HSA-9028731;R-HSA-9034864;R-HSA-912526;R-HSA-912631;R-HSA-983695;

pdb:
1AZE;1BM2;1BMB;1CJ1;1FHS;1FYR;1GCQ;1GFC;1GFD;1GHU;1GRI;1IO6;1JYQ;1JYR;1JYU;1QG1;1TZE;1X0N;1ZFP;2AOA;2AOB;2H46;2H5K;2HUW;2VVK;2VWF;2W0Z;3C7I;3IMD;3IMJ;3IN7;3IN8;3KFJ;3MXC;3MXY;3N7Y;3N84;3N8M;3OV1;3OVE;3S8L;3S8N;3S8O;3WA4;4P9V;4P9Z;5CDW;

sequence:

opentargets:
cell-cell junction [GO:0005911]; COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Grb2-EGFR complex [GO:0070436]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; ephrin receptor binding [GO:0046875]; epidermal growth factor receptor binding [GO:0005154]; identical protein binding [GO:0042802]; insulin receptor substrate binding [GO:0043560]; neurotrophin TRKA receptor binding [GO:0005168]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; phosphotyrosine residue binding [GO:0001784]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; RNA binding [GO:0003723]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; aging [GO:0007568]; anatomical structure formation involved in morphogenesis [GO:0048646]; axon guidance [GO:0007411]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; cell-cell signaling [GO:0007267]; cellular response to ionizing radiation [GO:0071479]; cytokine-mediated signaling pathway [GO:0019221]; entry of bacterium into host cell [GO:0035635]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; fibroblast growth factor receptor signaling pathway [GO:0008543]; insulin receptor signaling pathway [GO:0008286]; interleukin-15-mediated signaling pathway [GO:0035723]; leukocyte migration [GO:0050900]; MAPK cascade [GO:0000165]; membrane organization [GO:0061024]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; neurotrophin TRK receptor signaling pathway [GO:0048011]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; protein heterooligomerization [GO:0051291]; Ras protein signal transduction [GO:0007265]; receptor internalization [GO:0031623]; regulation of MAPK cascade [GO:0043408]; signal transduction in response to DNA damage [GO:0042770]; T cell costimulation [GO:0031295]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Ash-L; IsoId=P62993-1, P29354-1; Sequence=Displayed; Name=2; Synonyms=GRB3-3; IsoId=P62993-2, P29354-2; Sequence=VSP_001839; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21179510}. Cytoplasm {ECO:0000269|PubMed:21179510}. Endosome {ECO:0000269|PubMed:21179510}. Golgi apparatus {ECO:0000250}.


uniprotID: Q8IU54
geneSymbol: IFNL1
reactome: R-HSA-449836;R-HSA-8854691;
pdb: 3OG4;3OG6;
name: Interferon lambda-1 (IFN-lambda-1) (Cytokine Zcyto21) (Interleukin-29) (IL-29)
length: 200
go: ENSG00000182393;
snps: rs30461
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-28 receptor complex [GO:0032002]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; interleukin-28 receptor binding [GO:0032003]; signaling receptor binding [GO:0005102]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; JAK-STAT cascade [GO:0007259]; negative regulation of cell proliferation [GO:0008285]; negative regulation of interleukin-13 production [GO:0032696]; negative regulation of interleukin-5 production [GO:0032714]; negative regulation of memory T cell differentiation [GO:0043381]; negative regulation of T cell differentiation [GO:0045581]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of type 2 immune response [GO:0002829]; positive regulation of immune response [GO:0050778]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of MHC class I biosynthetic process [GO:0045345]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]


uniprotID: P05000
geneSymbol: IFNW1
pdb: 3SE4;
name: Interferon omega-1 (Interferon alpha-II-1)
length: 195
go: ENSG00000177047;
snps: rs2230055
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALLFPLLAALVMTSYSPVGSLGCDLPQNHGLLSRNTLVLLHQMRRISPFLCLKDRRDFRFPQEMVKGSQLQKAHVMSVLHEMLQQIFSLFHTERSSAAWNMTLLDQLHTGLHQQLQHLETCLLQVVGEGESAGAISSPALTLRRYFQGIRVYLKEKKYSDCAWEVVRMEIMKSLFLSTNMQERLRSKDRDLGSS

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; type I interferon receptor binding [GO:0005132]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; cell cycle arrest [GO:0007050]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; natural killer cell activation involved in immune response [GO:0002323]; positive regulation of peptidyl-serine phosphorylation of STAT protein [GO:0033141]; response to exogenous dsRNA [GO:0043330]; response to virus [GO:0009615]; T cell activation involved in immune response [GO:0002286]


uniprotID: Q8IY31
geneSymbol: IFT20
reactome: R-HSA-5620924;
name: Intraflagellar transport protein 20 homolog (hIFT20)
length: 132
go: ENSG00000109083;
sequence:
MAKDILGEAGLHFDELNKLRVLDPEVTQQTIELKEECKDFVDKIGQFQKIVGGLIELVDQLAKEAENEKMKAIGARNLLKSIAKQREAQQQQLQALIAEKKMQLERYRVEYEALCKVEAEQNEFIDQFIFQK

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cis-Golgi network [GO:0005801]; dendrite terminus [GO:0044292]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intraciliary transport particle B [GO:0030992]; kinociliary basal body [GO:1902636]; microvillus [GO:0005902]; motile cilium [GO:0031514]; photoreceptor connecting cilium [GO:0032391]; photoreceptor outer segment [GO:0001750]; stereocilium [GO:0032420]; opsin binding [GO:0002046]; Rab GTPase binding [GO:0017137]; cardiac muscle cell differentiation [GO:0055007]; centrosome localization [GO:0051642]; cilium assembly [GO:0060271]; cochlea development [GO:0090102]; establishment of planar polarity [GO:0001736]; inner ear receptor cell stereocilium organization [GO:0060122]; intraciliary transport [GO:0042073]; intraciliary transport involved in cilium assembly [GO:0035735]; kidney development [GO:0001822]; neural precursor cell proliferation [GO:0061351]; opsin transport [GO:0036372]; photoreceptor cell outer segment organization [GO:0035845]; protein localization to cilium [GO:0061512]; protein localization to Golgi apparatus [GO:0034067]; protein localization to plasma membrane [GO:0072659]; regulation of autophagosome assembly [GO:2000785]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of cilium assembly [GO:1902017]; regulation of platelet-derived growth factor receptor-alpha signaling pathway [GO:2000583]; smoothened signaling pathway [GO:0007224]; spermatogenesis [GO:0007283]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IY31-1; Sequence=Displayed; Name=2; IsoId=Q8IY31-2; Sequence=VSP_020390; Name=3; IsoId=Q8IY31-3; Sequence=VSP_020391; Name=4; IsoId=Q8IY31-4; Sequence=VSP_046026; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network {ECO:0000250|UniProtKB:Q61025}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q61025}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q61025}. Cell projection, cilium {ECO:0000250|UniProtKB:Q61025}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q61025}. Golgi apparatus {ECO:0000250|UniProtKB:Q61025}. Note=Present at the centrosomes during the cell cycle and associated with the proximal portion of the mother centriole and the lateral aspect of the daughter centriole. Associated with basal body at the base of primary cilia. Detected in the Golgi apparatus of round spermatids and late spermatocytes. Also detected in the manchette of step 10-12 spermatids. In step 14 spermatids, found in the basal body of the sperm tail. {ECO:0000250|UniProtKB:Q61025}.


uniprotID: Q9Y547
geneSymbol: HSPB11
reactome: R-HSA-5620924;
pdb: 1TVG;1XPW;
length: 144
go: ENSG00000081870;
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q9D6H2}.
name:
Intraflagellar transport protein 25 homolog (Heat shock protein beta-11) (Hspb11) (Placental protein 25) (PP25)

sequence:
MRKIDLCLSSEGSEVILATSSDEKHPPENIIDGNPETFWTTTGMFPQEFIICFHKHVRIERLVIQSYFVQTLKIEKSTSKEPVDFEQWIEKDLVHTEGQLQNEEIVAHDGSATYLRFIIVSAFDHFASVHSVSAEGTVVSNLSS

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; metal ion binding [GO:0046872]; cell differentiation [GO:0030154]; heart development [GO:0007507]; intraciliary transport involved in cilium assembly [GO:0035735]; kidney development [GO:0001822]; left/right axis specification [GO:0070986]; lung development [GO:0030324]; protein transport [GO:0015031]; skeletal system development [GO:0001501]; smoothened signaling pathway [GO:0007224]; spermatogenesis [GO:0007283]


uniprotID: Q96FT9
geneSymbol: IFT43
reactome: R-HSA-5620924;
name: Intraflagellar transport protein 43 homolog
length: 208
go: ENSG00000119650;
snps: rs140366557 rs2302858 rs17783366
sequence:

opentargets:
ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; intraciliary transport particle A [GO:0030991]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; cilium assembly [GO:0060271]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96FT9-1; Sequence=Displayed; Name=2; IsoId=Q96FT9-2; Sequence=VSP_021169; Note=No experimental confirmation available.; Name=3; IsoId=Q96FT9-3; Sequence=VSP_041319; Note=No experimental confirmation available.; Name=4; IsoId=Q96FT9-4; Sequence=VSP_047398; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22361696}. Cell projection, cilium {ECO:0000269|PubMed:28973684}. Note=Associated with microtubules (PubMed:22361696). Localized at the distal tip of the cilium (PubMed:28973684). {ECO:0000269|PubMed:22361696, ECO:0000269|PubMed:28973684}.


uniprotID: Q9H665
geneSymbol: IGFLR1
length: 355
go: ENSG00000126246;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs34562867
name:
IGF-like family receptor 1 (Transmembrane protein 149) (U2 small nuclear RNA auxiliary factor 1-like 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H665-1; Sequence=Displayed; Name=2; IsoId=Q9H665-2; Sequence=VSP_026145; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21454693}; Single-pass type I membrane protein {ECO:0000269|PubMed:21454693}.


uniprotID: P0DOX5
name: Immunoglobulin gamma-1 heavy chain (Immunoglobulin gamma-1 heavy chain NIE)
length: 449
pdb:
5O4E;5VJ6;5VU0;5VZX;5VZY;5W5L;5WAV;5XJE;5XJF;5XMH;5Y56;5YC5;6APD;6ARP;6ARU;6B70;6B7Z;6BF7;6BF9;6BZ4;6FCZ;6FGO;

sequence:


uniprotID: P01876
geneSymbol: IGHA1
reactome: R-HSA-202733;R-HSA-2168880;
pdb: 1IGA;1OW0;2QEJ;3CHN;
length: 353
go: ENSG00000211895;
snps: rs1407
name:
Immunoglobulin heavy constant alpha 1 (Ig alpha-1 chain C region) (Ig alpha-1 chain C region BUR) (Ig alpha-1 chain C region TRO)

sequence:

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; monomeric IgA immunoglobulin complex [GO:0071748]; secretory dimeric IgA immunoglobulin complex [GO:0071752]; secretory IgA immunoglobulin complex [GO:0071751]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; antibacterial humoral response [GO:0019731]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; glomerular filtration [GO:0003094]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; positive regulation of respiratory burst [GO:0060267]; protein-chromophore linkage [GO:0018298]; receptor-mediated endocytosis [GO:0006898]; retina homeostasis [GO:0001895]


uniprotID: P01854
geneSymbol: IGHE
reactome: R-HSA-2454202;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-2871837;R-HSA-6785807;
name: Immunoglobulin heavy constant epsilon (Ig epsilon chain C region) (Ig epsilon chain C region ND)
length: 428
go: ENSG00000211891;
pdb:
1F6A;1FP5;1G84;1IGE;1O0V;2WQR;2Y7Q;3H9Y;3H9Z;3HA0;4EZM;4GKO;4GRG;4GT7;4J4P;4KI1;5ANM;5HYS;5LGJ;5LGK;5MOI;5MOJ;5MOK;5MOL;5NQW;6EYO;

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; immunoglobulin complex, circulating [GO:0042571]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; Fc-epsilon receptor signaling pathway [GO:0038095]; immune response [GO:0006955]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]


uniprotID: P01857
geneSymbol: IGHG1
reactome: R-HSA-166663;R-HSA-173623;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-6785807;R-HSA-977606;
length: 330
go: ENSG00000211896;
pdb:
1AJ7;1AQK;1AXS;1BEY;1D5B;1D5I;1D6V;1DFB;1DN2;1E4K;1FC1;1FC2;1FCC;1GAF;1H3T;1H3U;1H3V;1H3W;1H3X;1H3Y;1HKL;1HZH;1I7Z;1L6X;1N7M;1OP3;1OQO;1OQX;1PG7;1T83;1T89;1VGE;2DTS;2GJ7;2I5Y;2IWG;2J6E;2JB5;2JB6;2O5X;2O5Y;2O5Z;2OSL;2QAD;2QL1;2QQK;2QQL;2QQN;2QR0;2R56;2RCJ;2RCS;2VXQ;2WAH;3AGV;3AVE;3AY4;3B2U;3B2V;3BDY;3BE1;3BKY;3BN9;3BQU;3C08;3C09;3C2S;3CFJ;3CFK;3CSY;3D0L;3D0V;3D6G;3D85;3DJ9;3DNK;3DO3;3DRO;3DRQ;3DVG;3DVN;3EYF;3EYO;3EYQ;3FJT;3MCL;3O11;3RY6;3S7G;3SGJ;3SGK;3TV3;3TWC;3TYG;3U0W;3U7W;3U7Y;3V7M;3V8C;3V95;3WJJ;3WJL;3WKN;3WN5;4ACP;4B7I;4BM7;4BSV;4BSW;4BYH;4CDH;4D9Q;4D9R;4DAG;4DZ8;4EOW;4HIX;4J12;4KU1;4LLD;4LLM;4LLQ;4N0U;4NQS;4NQT;4NQU;4NWT;4NWU;4O4Y;4O51;4Q6Y;4Q74;4Q7D;4W4N;4W4O;4WI2;4WI3;4WI4;4WI5;4WI6;4WI7;4WI8;4WI9;4X4M;4X98;4X99;4XMP;4XNY;4XNZ;4XXD;4ZNE;5BW7;5D4Q;5D6D;5DI8;5DJ0;5DJ2;5DJ6;5DJ8;5DJA;5DJC;5DJD;5DJX;5DJY;5DJZ;5DK0;5DK2;5DVK;5DVL;5DVM;5DVN;5DVO;5GSQ;5HSF;5HY9;5HYE;5HYF;5HYI;5IQ7;5IQ9;5IW3;5IW6;5JIH;5JII;5JIK;5K33;5K64;5K65;5K8D;5KWG;5M3V;5TPS;5U4Y;5U52;5U66;5V43;5V4E;6DCV;6DCW;6DE7;

name:
Immunoglobulin heavy constant gamma 1 (Ig gamma-1 chain C region) (Ig gamma-1 chain C region EU) (Ig gamma-1 chain C region KOL) (Ig gamma-1 chain C region NIE)

sequence:

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; innate immune response [GO:0045087]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; regulation of complement activation [GO:0030449]

drug:
DB07883;DB08294;DB07371;DB08562;DB08409;DB08296;DB08412;DB08332;DB04473;DB04639;DB07764;DB01631;DB07816;DB03740;DB07881;DB08410;DB08377;DB08411;DB08394;DB07672;


uniprotID: Q9NZI5
geneSymbol: GRHL1
reactome: R-HSA-1989781;
pdb: 5MPF;5MPH;5MPI;
length: 618
go: ENSG00000134317;
snps: rs16867256 rs2303920
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18288204}.
name:
Grainyhead-like protein 1 homolog (Mammalian grainyhead) (NH32) (Transcription factor CP2-like 2) (Transcription factor LBP-32)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; desmosome organization [GO:0002934]; epidermis development [GO:0008544]; establishment of skin barrier [GO:0061436]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of keratinocyte differentiation [GO:0045616]; regulation of lipid metabolic process [GO:0019216]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=p70 MGR; IsoId=Q9NZI5-1; Sequence=Displayed; Name=2; Synonyms=p49 MGR; IsoId=Q9NZI5-2; Sequence=VSP_017636, VSP_017637; Name=3; IsoId=Q9NZI5-3; Sequence=VSP_017638, VSP_017639; Note=No experimental confirmation available.; 


uniprotID: P01871
geneSymbol: IGHM
reactome: R-HSA-202733;R-HSA-5690714;R-HSA-983695;
pdb: 1HEZ;2AGJ;
length: 453
go: ENSG00000211899;
snps: rs12365
name:
Immunoglobulin heavy constant mu (Ig mu chain C region) (Ig mu chain C region BOT) (Ig mu chain C region GAL) (Ig mu chain C region OU)

sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; hexameric IgM immunoglobulin complex [GO:0071757]; immunoglobulin complex, circulating [GO:0042571]; integral component of membrane [GO:0016021]; pentameric IgM immunoglobulin complex [GO:0071756]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; adaptive immune response [GO:0002250]; antibacterial humoral response [GO:0019731]; B cell receptor signaling pathway [GO:0050853]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Secreted; IsoId=P01871-1; Sequence=Displayed; Name=2; Synonyms=Membrane-bound; IsoId=P01871-2; Sequence=VSP_034488; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted. Note=During differentiation, B-lymphocytes switch from expression of membrane-bound IgM to secretion of IgM.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.


uniprotID: Q8TE85
geneSymbol: GRHL3
length: 626
go: ENSG00000158055;
snps: rs2486668 rs34637004 rs752673677 rs879255245 rs946439477
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21081122}.
name:
Grainyhead-like protein 3 homolog (Sister of mammalian grainyhead) (Transcription factor CP2-like 4)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; central nervous system development [GO:0007417]; cochlea morphogenesis [GO:0090103]; ectoderm development [GO:0007398]; epidermis development [GO:0008544]; establishment of planar polarity [GO:0001736]; establishment of skin barrier [GO:0061436]; eyelid development in camera-type eye [GO:0061029]; neural tube closure [GO:0001843]; pattern specification process [GO:0007389]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of GTPase activity [GO:0043547]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of transcription by RNA polymerase II [GO:0006357]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TE85-1; Sequence=Displayed; Name=2; IsoId=Q8TE85-2; Sequence=VSP_017645, VSP_017646; Name=3; IsoId=Q8TE85-3; Sequence=VSP_017644, VSP_017646; Note=No experimental confirmation available.; Name=4; IsoId=Q8TE85-4; Sequence=VSP_017643, VSP_017646; Name=5; IsoId=Q8TE85-5; Sequence=VSP_017646; Note=No experimental confirmation available.; 


uniprotID: P0DOX8
name: Immunoglobulin lambda-1 light chain (Immunoglobulin lambda-1 light chain MCG)
length: 216
sequence:


uniprotID: Q9UBQ7
geneSymbol: GRHPR
reactome: R-HSA-389661;
pdb: 2GCG;2H1S;2Q50;2WWR;
name: Glyoxylate reductase/hydroxypyruvate reductase (EC 1.1.1.79) (EC 1.1.1.81)
length: 328
go: ENSG00000137106;
snps: rs12002324
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; peroxisomal matrix [GO:0005782]; carboxylic acid binding [GO:0031406]; glycerate dehydrogenase activity [GO:0008465]; glyoxylate reductase (NADP) activity [GO:0030267]; hydroxypyruvate reductase activity [GO:0016618]; NAD binding [GO:0051287]; NADPH binding [GO:0070402]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; protein homodimerization activity [GO:0042803]; cellular nitrogen compound metabolic process [GO:0034641]; dicarboxylic acid metabolic process [GO:0043648]; excretion [GO:0007588]; glyoxylate metabolic process [GO:0046487]; oxidation-reduction process [GO:0055114]; protein complex oligomerization [GO:0051259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBQ7-1; Sequence=Displayed; Name=2; IsoId=Q9UBQ7-2; Sequence=VSP_057016, VSP_057017, VSP_057018; Note=No experimental confirmation available.; 


uniprotID: P42261
geneSymbol: GRIA1
reactome: R-HSA-204005;R-HSA-399710;R-HSA-399719;R-HSA-416993;R-HSA-438066;R-HSA-5694530;R-HSA-8849932;
length: 906
go: ENSG00000155511;
drug: DB05047;DB01189;DB00228;DB00898;DB00753;DB00142;DB01028;DB08883;DB01236;DB04982;
snps: rs13166146 rs13166161 rs13166438 rs13186241 rs13186534 rs587776937
name:
Glutamate receptor 1 (GluR-1) (AMPA-selective glutamate receptor 1) (GluR-A) (GluR-K1) (Glutamate receptor ionotropic, AMPA 1) (GluA1)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; axonal spine [GO:0044308]; cell junction [GO:0030054]; cell surface [GO:0009986]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; dendritic spine membrane [GO:0032591]; early endosome membrane [GO:0031901]; endocytic vesicle membrane [GO:0030666]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; integral component of postsynaptic density membrane [GO:0099061]; neuron spine [GO:0044309]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; synaptic membrane [GO:0097060]; synaptic vesicle [GO:0008021]; AMPA glutamate receptor activity [GO:0004971]; amyloid-beta binding [GO:0001540]; excitatory extracellular ligand-gated ion channel activity [GO:0005231]; glutamate receptor activity [GO:0008066]; neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration [GO:0099583]; PDZ domain binding [GO:0030165]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; long-term memory [GO:0007616]; long-term synaptic depression [GO:0060292]; receptor internalization [GO:0031623]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=Flop; IsoId=P42261-1; Sequence=Displayed; Name=Flip; IsoId=P42261-2; Sequence=VSP_053349; Name=3; IsoId=P42261-3; Sequence=VSP_045120; Name=4; IsoId=P42261-4; Sequence=VSP_045119; Name=5; IsoId=P42261-5; Sequence=VSP_047024; Note=No experimental confirmation available.; Name=6; IsoId=P42261-6; Sequence=VSP_047024, VSP_053349; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23739980}; Multi-pass membrane protein {ECO:0000269|PubMed:23739980}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P19490}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19490}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:23739980}; Multi-pass membrane protein {ECO:0000269|PubMed:23739980}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:P23818}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P23818}. Cell projection, dendrite {ECO:0000250|UniProtKB:P23818}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P23818}. Early endosome membrane {ECO:0000250|UniProtKB:P19490}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19490}. Recycling endosome membrane {ECO:0000250|UniProtKB:P19490}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19490}. Note=Interaction with CACNG2, CNIH2 and CNIH3 promotes cell surface expression. Colocalizes with PDLIM4 in early endosomes. Displays a somatodendritic localization and is excluded from axons in neurons (By similarity). {ECO:0000250|UniProtKB:P19490, ECO:0000250|UniProtKB:P23818}.


uniprotID: P42263
geneSymbol: GRIA3
reactome: R-HSA-399710;R-HSA-399719;R-HSA-416993;R-HSA-438066;R-HSA-8849932;
length: 894
go: ENSG00000125675;
drug: DB04599;DB05047;DB00898;DB00142;DB01356;DB04982;
snps: rs368568228 rs1052538 rs137852351 rs137852352 rs137852350
name:
Glutamate receptor 3 (GluR-3) (AMPA-selective glutamate receptor 3) (GluR-C) (GluR-K3) (Glutamate receptor ionotropic, AMPA 3) (GluA3)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; endocytic vesicle membrane [GO:0030666]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; AMPA glutamate receptor activity [GO:0004971]; amyloid-beta binding [GO:0001540]; excitatory extracellular ligand-gated ion channel activity [GO:0005231]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; glutamate receptor signaling pathway [GO:0007215]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Flop; IsoId=P42263-1; Sequence=Displayed; Name=Flip; IsoId=P42263-2; Sequence=VSP_053351; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Interaction with CNIH2 and CNIH3 promotes cell surface expression. {ECO:0000250}.


uniprotID: Q6WRI0
geneSymbol: IGSF10
name: Immunoglobulin superfamily member 10 (IgSF10) (Calvaria mechanical force protein 608) (CMF608)
length: 2623
go: ENSG00000152580;
drug: DB00114;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:27137492}.
sequence:

opentargets:
extracellular region [GO:0005576]; ossification [GO:0001503]; regulation of neuron migration [GO:2001222]

snps:
rs35953658 rs7619322 rs138756085 rs114161831 rs17204557 rs58583961 rs16863403 rs34933248 rs12487205 rs3732775 rs7624011 rs112889898 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6WRI0-1; Sequence=Displayed; Name=2; IsoId=Q6WRI0-2; Sequence=VSP_025195, VSP_025196; Note=No experimental confirmation available.; Name=3; IsoId=Q6WRI0-3; Sequence=VSP_025194; Note=No experimental confirmation available.; 


uniprotID: Q5DX21
geneSymbol: IGSF11
length: 431
go: ENSG00000144847;
snps: rs2903250 rs36052974 rs34908332
name:
Immunoglobulin superfamily member 11 (IgSF11) (Brain and testis-specific immunoglobulin superfamily protein) (Bt-IGSF) (V-set and immunoglobulin domain-containing protein 3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5DX21-1; Sequence=Displayed; Name=2; IsoId=Q5DX21-2; Sequence=VSP_030936; Name=3; IsoId=Q5DX21-3; Sequence=VSP_030936, VSP_030937; Note=No experimental confirmation available.; 


uniprotID: P48058
geneSymbol: GRIA4
reactome: R-HSA-399710;R-HSA-399719;R-HSA-416993;R-HSA-438066;R-HSA-8849932;
length: 902
go: ENSG00000152578;
drug: DB05047;DB00898;DB00142;DB04982;
name:
Glutamate receptor 4 (GluR-4) (GluR4) (AMPA-selective glutamate receptor 4) (GluR-D) (Glutamate receptor ionotropic, AMPA 4) (GluA4)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; dendritic spine [GO:0043197]; endocytic vesicle membrane [GO:0030666]; extracellular vesicle [GO:1903561]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; AMPA glutamate receptor activity [GO:0004971]; excitatory extracellular ligand-gated ion channel activity [GO:0005231]; ionotropic glutamate receptor activity [GO:0004970]; glutamate receptor signaling pathway [GO:0007215]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48058-1; Sequence=Displayed; Name=2; IsoId=P48058-2; Sequence=VSP_042742, VSP_042743; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Interaction with CNIH2, CNIH3 and PRKCG promotes cell surface expression. {ECO:0000250}.


uniprotID: A1L1A6
geneSymbol: IGSF23
name: Immunoglobulin superfamily member 23
length: 192
go: ENSG00000216588;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MRAKPQSPLPRNPVPAWSPPTTTTDPMLEKDAAGGDFPANLVLQLMPLKTFPAAIRGVIQSELNYSVILQWVVTMDPEPVLSWTFSGVPCGMGEKLFIRRLSCEQLGTYMCIATNSKKQLVSEPVTISLPKPIMQPTEAEPMEPDPTLSLSGGSAIGLLAAGILGAGALIAGMCFIIIQSLRTDRQRIGICS


uniprotID: Q8N6C5
geneSymbol: IGSF1
length: 1336
go: ENSG00000147255;
snps: rs6637826 rs397514622
name:
Immunoglobulin superfamily member 1 (IgSF1) (Immunoglobulin-like domain-containing protein 1) (Inhibin-binding protein) (InhBP) (Pituitary gland-specific factor 2) (p120)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; activin receptor antagonist activity [GO:0038102]; coreceptor activity [GO:0015026]; inhibin binding [GO:0034711]; negative regulation of activin receptor signaling pathway [GO:0032926]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=InhBP-L, long; IsoId=Q8N6C5-1; Sequence=Displayed; Name=2; IsoId=Q8N6C5-2; Sequence=VSP_031195; Name=3; Synonyms=InhBP-S, short; IsoId=Q8N6C5-3; Sequence=VSP_031196, VSP_031197; Name=4; IsoId=Q8N6C5-4; Sequence=VSP_044554; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.


uniprotID: Q93033
geneSymbol: CD101
reactome: R-HSA-202433;
length: 1021
go: ENSG00000134256;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Immunoglobulin superfamily member 2 (IgSF2) (Cell surface glycoprotein V7) (Glu-Trp-Ile EWI motif-containing protein 101) (EWI-101) (CD antigen CD101)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides [GO:0016812]; cell surface receptor signaling pathway [GO:0007166]; positive regulation of myeloid leukocyte differentiation [GO:0002763]

snps:
rs34999087 rs3754112 rs2249265 rs17235766 rs17235773 rs34510762 rs12093834 rs34223095 rs12097758 rs12067543 rs34248572 


uniprotID: O75054
geneSymbol: IGSF3
name: Immunoglobulin superfamily member 3 (IgSF3) (Glu-Trp-Ile EWI motif-containing protein 3) (EWI-3)
length: 1194
go: ENSG00000143061;
snps: rs3965246 rs647711 rs6703791
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; lacrimal gland development [GO:0032808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75054-1; Sequence=Displayed; Name=2; IsoId=O75054-2; Sequence=VSP_031609; 


uniprotID: Q9NSI5
geneSymbol: IGSF5
name: Immunoglobulin superfamily member 5 (IgSF5) (Junctional adhesion molecule 4) (JAM-4)
length: 407
go: ENSG00000183067;
snps: rs2205204 rs11908882 rs8129968 rs2837225
sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell surface [GO:0009986]; integral component of membrane [GO:0016021]; cell-cell adhesion [GO:0098609]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q5VJ70}; Single-pass type I membrane protein {ECO:0000255}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q5VJ70}.


uniprotID: O95976
geneSymbol: IGSF6
name: Immunoglobulin superfamily member 6 (IgSF6) (Protein DORA)
length: 241
go: ENSG00000140749;
snps: rs17851574 rs2290612 rs751849987
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; immune response [GO:0006955]


uniprotID: Q13002
geneSymbol: GRIK2
reactome: R-HSA-451307;R-HSA-451308;
pdb: 3QXM;5CMM;
length: 908
go: ENSG00000164418;
snps: rs3213608 rs2235076
name:
Glutamate receptor ionotropic, kainate 2 (GluK2) (Excitatory amino acid receptor 4) (EAA4) (Glutamate receptor 6) (GluR-6) (GluR6)

sequence:

opentargets:
cell junction [GO:0030054]; dendrite cytoplasm [GO:0032839]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; kainate selective glutamate receptor complex [GO:0032983]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; terminal bouton [GO:0043195]; extracellularly glutamate-gated ion channel activity [GO:0005234]; glutamate receptor activity [GO:0008066]; kainate selective glutamate receptor activity [GO:0015277]; ligand-gated ion channel activity [GO:0015276]; ligand-gated ion channel activity involved in regulation of presynaptic membrane potential [GO:0099507]; PDZ domain binding [GO:0030165]; protein homodimerization activity [GO:0042803]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase binding [GO:0031625]; behavioral fear response [GO:0001662]; cellular calcium ion homeostasis [GO:0006874]; chemical synaptic transmission [GO:0007268]; glutamate receptor signaling pathway [GO:0007215]; inhibitory postsynaptic potential [GO:0060080]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; neuron apoptotic process [GO:0051402]; neuronal action potential [GO:0019228]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of synaptic transmission [GO:0050806]; receptor clustering [GO:0043113]; regulation of JNK cascade [GO:0046328]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; synaptic transmission, glutamatergic [GO:0035249]

drug:
DB01351;DB01352;DB01483;DB01496;DB00237;DB00241;DB01353;DB02852;DB01354;DB01355;DB00142;DB00463;DB00849;DB00312;DB01174;DB00794;DB02999;DB00418;DB00306;DB00599;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=A; IsoId=Q13002-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q13002-2; Sequence=VSP_022335; Name=3; IsoId=Q13002-3; Sequence=VSP_022337; Name=4; IsoId=Q13002-4; Sequence=VSP_022334; Name=5; Synonyms=C; IsoId=Q13002-5; Sequence=VSP_022336; Name=6; Synonyms=D; IsoId=Q13002-6; Sequence=VSP_044388, VSP_022335; Note=Seems to be specific for non-neuronal cells. May not function as active channel.; Name=7; Synonyms=E; IsoId=Q13002-7; Sequence=VSP_044389, VSP_022336; Note=Seems to be specific for non-neuronal cells. May not function as active channel.; 


uniprotID: Q13003
geneSymbol: GRIK3
reactome: R-HSA-451308;R-HSA-500657;
length: 919
go: ENSG00000163873;
drug: DB00142;
snps: rs755366301 rs6691840
name:
Glutamate receptor ionotropic, kainate 3 (GluK3) (Excitatory amino acid receptor 5) (EAA5) (Glutamate receptor 7) (GluR-7) (GluR7)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; dendrite [GO:0030425]; dendrite cytoplasm [GO:0032839]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; kainate selective glutamate receptor complex [GO:0032983]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; terminal bouton [GO:0043195]; adenylate cyclase inhibiting G protein-coupled glutamate receptor activity [GO:0001640]; G protein-coupled receptor binding [GO:0001664]; glutamate receptor activity [GO:0008066]; ionotropic glutamate receptor activity [GO:0004970]; kainate selective glutamate receptor activity [GO:0015277]; ligand-gated ion channel activity [GO:0015276]; ligand-gated ion channel activity involved in regulation of presynaptic membrane potential [GO:0099507]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; glutamate receptor signaling pathway [GO:0007215]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; regulation of membrane potential [GO:0042391]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13003-1; Sequence=Displayed; Name=2; IsoId=Q13003-2; Sequence=VSP_056588; 


uniprotID: Q8WTQ7
geneSymbol: GRK7
reactome: R-HSA-2514859;
length: 553
go: ENSG00000114124;
name:
Rhodopsin kinase (EC 2.7.11.14) (G protein-coupled receptor kinase 7) (G protein-coupled receptor kinase GRK7)

sequence:

opentargets:
photoreceptor disc membrane [GO:0097381]; ATP binding [GO:0005524]; G protein-coupled receptor kinase activity [GO:0004703]; rhodopsin kinase activity [GO:0050254]; protein autophosphorylation [GO:0046777]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; signal transduction [GO:0007165]; visual perception [GO:0007601]

snps:
rs34429284 rs56070798 rs34769632 rs35318124 rs55707760 rs56019094 rs35566288 rs55824414 rs56076641 rs36009541 rs33928105 rs36004830 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q8WMV0}; Lipid-anchor {ECO:0000250|UniProtKB:Q8WMV0}.


uniprotID: Q6ZVF9
geneSymbol: GPRIN3
name: G protein-regulated inducer of neurite outgrowth 3 (GRIN3)
length: 776
go: ENSG00000185477;
snps: rs11734353 rs6811370 rs28622301 rs11733183 rs7653897 rs17015286
sequence:


uniprotID: Q96CP6
geneSymbol: GRAMD1A
name: GRAM domain-containing protein 1A
length: 724
go: ENSG00000089351;
sequence:

opentargets:
extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of membrane [GO:0016021]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; organelle membrane contact site [GO:0044232]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96CP6-1; Sequence=Displayed; Name=2; IsoId=Q96CP6-2; Sequence=VSP_025465, VSP_025466; Note=No experimental confirmation available.; Name=3; IsoId=Q96CP6-3; Sequence=VSP_025466; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29469807}; Single-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:29469807}; Peripheral membrane protein {ECO:0000305}. Note=Localizes to puncta in the cell periphery representing endoplasmic reticulum (ER)-plasma membrane (PM) membrane contact sites (MCS). Localizes to distinct ER-PM MCSs than GRAMD2A and ESYT2/3. {ECO:0000269|PubMed:29469807}.


uniprotID: Q14831
geneSymbol: GRM7
reactome: R-HSA-418594;R-HSA-420499;
pdb: 3MQ4;5C5C;
name: Metabotropic glutamate receptor 7 (mGluR7)
length: 915
go: ENSG00000196277;
drug: DB00142;
snps: rs2229902 rs7634846 rs1485174
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
asymmetric synapse [GO:0032279]; axon [GO:0030424]; cell cortex [GO:0005938]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic active zone [GO:0048786]; presynaptic membrane [GO:0042734]; receptor complex [GO:0043235]; adenylate cyclase inhibitor activity [GO:0010855]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; glutamate binding [GO:0016595]; glutamate receptor activity [GO:0008066]; group III metabotropic glutamate receptor activity [GO:0001642]; PDZ domain binding [GO:0030165]; serine binding [GO:0070905]; adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway [GO:0007196]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; chemical synaptic transmission [GO:0007268]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of glutamate secretion [GO:0014050]; regulation of synaptic transmission, glutamatergic [GO:0051966]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=GRM7_v1, mGluR7a; IsoId=Q14831-1; Sequence=Displayed; Name=2; Synonyms=GRM7_v2, mGluR7b; IsoId=Q14831-2; Sequence=VSP_015735; Name=3; Synonyms=GRM7_v3; IsoId=Q14831-3; Sequence=VSP_015732; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; Name=4; Synonyms=GRM7_v4; IsoId=Q14831-4; Sequence=VSP_015733; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=GRM7_v5; IsoId=Q14831-5; Sequence=VSP_015734; 


uniprotID: Q13255
geneSymbol: GRM1
reactome: R-HSA-416476;R-HSA-420499;R-HSA-6794361;
pdb: 3KS9;4OR2;
name: Metabotropic glutamate receptor 1 (mGluR1)
length: 1194
go: ENSG00000152822;
drug: DB04256;DB00142;
snps: rs12190109 rs7760248 rs1047005 rs3025919 rs362936 rs2941 rs6923492
sequence:

opentargets:
dendrite [GO:0030425]; G protein-coupled receptor dimeric complex [GO:0038037]; G protein-coupled receptor homodimeric complex [GO:0038038]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; Schaffer collateral - CA1 synapse [GO:0098685]; G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration [GO:0098872]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential [GO:0099530]; glutamate receptor activity [GO:0008066]; identical protein binding [GO:0042802]; neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration [GO:0099583]; activation of MAPK activity [GO:0000187]; activation of MAPKK activity [GO:0000186]; cellular response to electrical stimulus [GO:0071257]; chemical synaptic transmission [GO:0007268]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; regulation of sensory perception of pain [GO:0051930]; regulation of synaptic transmission, glutamatergic [GO:0051966]; sensory perception of pain [GO:0019233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=Q13255-1; Sequence=Displayed; Name=Beta; IsoId=Q13255-2; Sequence=VSP_002024, VSP_002025; Name=3; IsoId=Q13255-3; Sequence=VSP_055127, VSP_055128; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24603153}; Multi-pass membrane protein {ECO:0000269|PubMed:24603153}.


uniprotID: P28799
geneSymbol: GRN
reactome: R-HSA-6798695;
pdb: 1G26;2JYE;2JYT;2JYU;2JYV;
length: 593
go: ENSG00000030582;
location: SUBCELLULAR LOCATION: Secreted.
name:
Granulins (Proepithelin) (PEPI) [Cleaved into: Acrogranin (Glycoprotein of 88 Kda) (GP88) (Glycoprotein 88) (Progranulin); Paragranulin; Granulin-1 (Granulin G); Granulin-2 (Granulin F); Granulin-3 (Granulin B); Granulin-4 (Granulin A); Granulin-5 (Granulin C); Granulin-6 (Granulin D); Granulin-7 (Granulin E)]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lysosome [GO:0005764]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; RNA binding [GO:0003723]; neutrophil degranulation [GO:0043312]; signal transduction [GO:0007165]

snps:
rs63751243 rs63750723 rs199944486 rs63750043 rs63750479 rs758322775 rs529849967 rs143030899 rs148213321 rs114248177 rs25647 rs971443926 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P28799-1; Sequence=Displayed; Name=2; IsoId=P28799-2; Sequence=VSP_001837; Name=3; IsoId=P28799-3; Sequence=VSP_053472, VSP_053473; Note=No experimental confirmation available.; 


uniprotID: O95267
geneSymbol: RASGRP1
reactome: R-HSA-114508;R-HSA-1169092;R-HSA-2871837;R-HSA-354192;R-HSA-392517;R-HSA-5673001;
pdb: 4L9M;4L9U;
length: 797
go: ENSG00000172575;
name:
RAS guanyl-releasing protein 1 (Calcium and DAG-regulated guanine nucleotide exchange factor II) (CalDAG-GEFII) (Ras guanyl-releasing protein)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; mast cell granule [GO:0042629]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; diacylglycerol binding [GO:0019992]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; lipid binding [GO:0008289]; phosphatidylcholine binding [GO:0031210]; phosphatidylserine binding [GO:0001786]; protein homodimerization activity [GO:0042803]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; zinc ion binding [GO:0008270]; activation of GTPase activity [GO:0090630]; cell differentiation [GO:0030154]; cytokine production [GO:0001816]; inflammatory response to antigenic stimulus [GO:0002437]; MAPK cascade [GO:0000165]; mast cell degranulation [GO:0043303]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of GTPase activity [GO:0043547]; positive regulation of interferon-gamma secretion [GO:1902715]; positive regulation of JNK cascade [GO:0046330]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of natural killer cell differentiation [GO:0032825]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of tumor necrosis factor production [GO:0032760]; protein complex oligomerization [GO:0051259]; Ras protein signal transduction [GO:0007265]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; secretory granule localization [GO:0032252]; signal transduction [GO:0007165]; vesicle transport along microtubule [GO:0047496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist. Several splicing events may be used independently in a modular way.; Name=1; IsoId=O95267-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=O95267-2; Sequence=VSP_030836; Name=3; Synonyms=B; IsoId=O95267-3; Sequence=VSP_030836, VSP_030841, VSP_030842; Name=4; Synonyms=C; IsoId=O95267-4; Sequence=VSP_030836, VSP_030837, VSP_030838; Name=5; Synonyms=D; IsoId=O95267-5; Sequence=VSP_030836, VSP_030839, VSP_030840; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Found both in the cytosol and associated with membranes. Relocalization to the cell membrane upon activation is F-actin-dependent. Translocates to the Golgi in response to phorbol ester or nerve growth factor. Localizes to somata and dendrites but not to axons of hippocampal pyramidal cells (By similarity). {ECO:0000250}.


uniprotID: Q8IV61
geneSymbol: RASGRP3
reactome: R-HSA-1169092;R-HSA-5673001;
length: 690
go: ENSG00000152689;
snps: rs13388394
name:
Ras guanyl-releasing protein 3 (Calcium and DAG-regulated guanine nucleotide exchange factor III) (Guanine nucleotide exchange factor for Rap1)

sequence:

opentargets:
guanyl-nucleotide exchange factor complex [GO:0032045]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; diacylglycerol binding [GO:0019992]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; kinase binding [GO:0019900]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; MAPK cascade [GO:0000165]; Ras protein signal transduction [GO:0007265]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV61-1; Sequence=Displayed; Name=2; IsoId=Q8IV61-2; Sequence=VSP_047371; 


uniprotID: Q8TDF6
geneSymbol: RASGRP4
reactome: R-HSA-2871837;R-HSA-5673001;
pdb: 6AXG;
name: RAS guanyl-releasing protein 4
length: 673
go: ENSG00000171777;
snps: rs892055 rs202008979 rs34377632
location: SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=Recruited to membranes upon activation by DAG.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; diacylglycerol binding [GO:0019992]; GTP-dependent protein binding [GO:0030742]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; activation of phospholipase C activity [GO:0007202]; cell proliferation [GO:0008283]; MAPK cascade [GO:0000165]; myeloid cell differentiation [GO:0030099]; positive regulation of Ras protein signal transduction [GO:0046579]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; response to extracellular stimulus [GO:0009991]; small GTPase mediated signal transduction [GO:0007264]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q8TDF6-1; Sequence=Displayed; Name=2; Synonyms=variant 2; IsoId=Q8TDF6-2; Sequence=VSP_030480; Note=Probably inactive.; Name=3; Synonyms=variant 1; IsoId=Q8TDF6-3; Sequence=VSP_030479; Note=Probably inactive.; Name=4; IsoId=Q8TDF6-5; Sequence=VSP_043138; Name=5; IsoId=Q8TDF6-6; Sequence=VSP_043176; Name=6; IsoId=Q8TDF6-7; Sequence=VSP_043392; Note=No experimental confirmation available.; Name=7; IsoId=Q8TDF6-8; Sequence=VSP_046907; Name=8; IsoId=Q8TDF6-9; Sequence=VSP_046908; 


uniprotID: P38646
geneSymbol: HSPA9
reactome: R-HSA-1268020;R-HSA-3371453;R-HSA-8949613;R-HSA-8950505;
pdb: 3N8E;4KBO;
length: 679
go: ENSG00000113013;
name:
Stress-70 protein, mitochondrial (75 kDa glucose-regulated protein) (GRP-75) (Heat shock 70 kDa protein 9) (Mortalin) (MOT) (Peptide-binding protein 74) (PBP74)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; erythrocyte differentiation [GO:0030218]; interleukin-12-mediated signaling pathway [GO:0035722]; iron-sulfur cluster assembly [GO:0016226]; negative regulation of apoptotic process [GO:0043066]; negative regulation of erythrocyte differentiation [GO:0045647]; protein refolding [GO:0042026]; regulation of erythrocyte differentiation [GO:0045646]; response to unfolded protein [GO:0006986]

snps:
rs17856004 rs751478142 rs35091799 rs765368797 rs199715716 rs768283289 rs34558740 rs147723579 rs905439101 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22002106, ECO:0000269|PubMed:26702583}. Nucleus, nucleolus {ECO:0000269|PubMed:22002106}.


uniprotID: Q70UQ0
geneSymbol: IKBIP
length: 350
go: ENSG00000166130;
snps: rs1048906 rs12322444
name:
Inhibitor of nuclear factor kappa-B kinase-interacting protein (I kappa-B kinase-interacting protein) (IKBKB-interacting protein) (IKK-interacting protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; response to X-ray [GO:0010165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IKIP2; IsoId=Q70UQ0-1; Sequence=Displayed; Name=2; IsoId=Q70UQ0-2; Sequence=VSP_034407; Name=3; Synonyms=IKIP3; IsoId=Q70UQ0-3; Sequence=VSP_034408, VSP_034409; Name=4; Synonyms=IKIP1; IsoId=Q70UQ0-4; Sequence=VSP_034410; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15389287}; Single-pass membrane protein {ECO:0000269|PubMed:15389287}. Note=Isoform 4 deletion of the hydrophobic, or transmembrane region between AA 45-63 results in uniform distribution throughout the cell, suggesting that this region is responsible for endoplasmic reticulum localization.


uniprotID: O15111
geneSymbol: CHUK
pdb: 3BRT;5EBZ;5TQW;5TQX;5TQY;
length: 745
go: ENSG00000213341;
drug: DB06151;DB00233;DB00244;DB00795;
snps: rs34427437 rs2230803 rs2230804
reactome:
R-HSA-1169091;R-HSA-1236974;R-HSA-168638;R-HSA-168927;R-HSA-1810476;R-HSA-198323;R-HSA-202424;R-HSA-2871837;R-HSA-445989;R-HSA-5357905;R-HSA-5357956;R-HSA-5602636;R-HSA-5603027;R-HSA-5603029;R-HSA-5607761;R-HSA-5607764;R-HSA-5674400;R-HSA-5676590;R-HSA-5684264;R-HSA-9020702;R-HSA-933542;R-HSA-933543;R-HSA-937039;R-HSA-937041;R-HSA-975144;

name:
Inhibitor of nuclear factor kappa-B kinase subunit alpha (I-kappa-B kinase alpha) (IKK-A) (IKK-alpha) (IkBKA) (IkappaB kinase) (EC 2.7.11.10) (Conserved helix-loop-helix ubiquitous kinase) (I-kappa-B kinase 1) (IKK1) (Nuclear factor NF-kappa-B inhibitor kinase alpha) (NFKBIKA) (Transcription factor 16) (TCF-16)

sequence:

opentargets:
CD40 receptor complex [GO:0035631]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; IkappaB kinase complex [GO:0008385]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; IkappaB kinase activity [GO:0008384]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; scaffold protein binding [GO:0097110]; anatomical structure morphogenesis [GO:0009653]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; cellular response to cadmium ion [GO:0071276]; cellular response to reactive oxygen species [GO:0034614]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to virus [GO:0098586]; Fc-epsilon receptor signaling pathway [GO:0038095]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; I-kappaB phosphorylation [GO:0007252]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; MyD88-independent toll-like receptor signaling pathway [GO:0002756]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; NIK/NF-kappaB signaling [GO:0038061]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to acetate [GO:0010034]; response to amino acid [GO:0043200]; response to drug [GO:0042493]; response to hydroperoxide [GO:0033194]; response to lipopolysaccharide [GO:0032496]; response to toxic substance [GO:0009636]; response to virus [GO:0009615]; Rho protein signal transduction [GO:0007266]; skeletal muscle contraction [GO:0003009]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated MAPK cascade [GO:0051403]; striated muscle cell differentiation [GO:0051146]; T cell receptor signaling pathway [GO:0050852]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12789342}. Nucleus {ECO:0000269|PubMed:12789342}. Note=Shuttles between the cytoplasm and the nucleus.


uniprotID: Q14164
geneSymbol: IKBKE
reactome: R-HSA-4755510;R-HSA-9013973;R-HSA-918233;R-HSA-933541;R-HSA-936440;R-HSA-936964;
length: 716
go: ENSG00000263528;
snps: rs41296028 rs17021877 rs52817862 rs41299015 rs41299037 rs12059562 rs55822317 rs3748022
name:
Inhibitor of nuclear factor kappa-B kinase subunit epsilon (I-kappa-B kinase epsilon) (IKK-E) (IKK-epsilon) (IkBKE) (EC 2.7.11.10) (Inducible I kappa-B kinase) (IKK-i)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; mitochondrial membrane [GO:0031966]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; IkappaB kinase activity [GO:0008384]; K48-linked polyubiquitin modification-dependent protein binding [GO:0036435]; NF-kappaB-inducing kinase activity [GO:0004704]; protein kinase activity [GO:0004672]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; ubiquitin protein ligase binding [GO:0031625]; cellular response to virus [GO:0098586]; immune response [GO:0006955]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; negative regulation of type I interferon production [GO:0032480]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of lipid storage [GO:0010884]; protein homooligomerization [GO:0051260]; protein phosphorylation [GO:0006468]; response to interferon-beta [GO:0035456]; response to type I interferon [GO:0034340]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14164-1; Sequence=Displayed; Name=2; IsoId=Q14164-2; Sequence=VSP_044305; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24882218}. Nucleus. Nucleus, PML body {ECO:0000269|PubMed:20188669}. Note=Targeting to PML nuclear bodies upon DNA damage is TOPORS-dependent (PubMed:20188669). Located diffusely throughout the cytoplasm but locates to punctate cytoplasmic bodies when coexpressed with TRIM6 (PubMed:24882218). {ECO:0000269|PubMed:20188669, ECO:0000269|PubMed:24882218}.


uniprotID: Q9BQ67
geneSymbol: GRWD1
name: Glutamate-rich WD repeat-containing protein 1
length: 446
go: ENSG00000105447;
snps: rs2302951
sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA replication origin binding [GO:0003688]; histone binding [GO:0042393]; RNA binding [GO:0003723]; DNA replication [GO:0006260]; nucleosome assembly [GO:0006334]; nucleosome disassembly [GO:0006337]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Nucleus {ECO:0000269|PubMed:25990725}. Chromosome {ECO:0000269|PubMed:25990725}. Note=Present in the nucleus throughout interphase and is detached from chromatin at the onset of mitosis and rebinds at telophase when the pre-replication complexes (pre-RC) is formed (PubMed:25990725). {ECO:0000269|PubMed:25990725}.


uniprotID: Q9UKT9
geneSymbol: IKZF3
name: Zinc finger protein Aiolos (Ikaros family zinc finger protein 3)
length: 509
go: ENSG00000161405;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; B cell activation [GO:0042113]; mesoderm development [GO:0007498]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of apoptotic process [GO:0042981]; regulation of B cell differentiation [GO:0045577]; regulation of B cell proliferation [GO:0030888]; regulation of lymphocyte differentiation [GO:0045619]; regulation of transcription by RNA polymerase II [GO:0006357]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=16;  Name=1; Synonyms=Aio-1; IsoId=Q9UKT9-1; Sequence=Displayed; Name=2; Synonyms=Aio-del4; IsoId=Q9UKT9-2; Sequence=VSP_006840; Name=3; Synonyms=Aio-del5; IsoId=Q9UKT9-3; Sequence=VSP_006842; Name=4; Synonyms=Aio-del6; IsoId=Q9UKT9-4; Sequence=VSP_006844; Name=5; Synonyms=Aio-del4,5; IsoId=Q9UKT9-5; Sequence=VSP_006841; Name=6; Synonyms=Aio-del5,6; IsoId=Q9UKT9-6; Sequence=VSP_006843; Name=7; Synonyms=Aio-del2; IsoId=Q9UKT9-7; Sequence=VSP_041274; Name=8; Synonyms=Aio-del2,5; IsoId=Q9UKT9-8; Sequence=VSP_041274, VSP_006842; Name=9; Synonyms=Aio-del3; IsoId=Q9UKT9-9; Sequence=VSP_041278; Name=10; Synonyms=Aio-del3,4; IsoId=Q9UKT9-10; Sequence=VSP_041277; Name=11; Synonyms=Aio-del3,4,5; IsoId=Q9UKT9-11; Sequence=VSP_041276; Name=12; Synonyms=Aio-del3,4,5,6; IsoId=Q9UKT9-12; Sequence=VSP_041275; Name=13; Synonyms=Aio-del4,5,6; IsoId=Q9UKT9-13; Sequence=VSP_041279; Name=14; Synonyms=Aio-1-5a; IsoId=Q9UKT9-14; Sequence=VSP_041280, VSP_041281; Name=15; Synonyms=Aio-del4-5a; IsoId=Q9UKT9-15; Sequence=VSP_006840, VSP_041280; Name=16; IsoId=Q9UKT9-16; Sequence=VSP_055353; Note=No experimental confirmation available.; 


uniprotID: A8MUP6
geneSymbol: GSG1L2
name: Germ cell-specific gene 1-like protein 2 (GSG1-like protein 2)
length: 293
go: ENSG00000214978;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q5JQS6
geneSymbol: GCSAML
name: Germinal center-associated signaling and motility-like protein
length: 135
go: ENSG00000169224;
sequence:
MGNYLLRKLSCLGENQKKPKKGNPDEERKRQEMTTFERKLQDQDKKSQEVSSTSNQENENGSGSEEVCYTVINHIPHQRSSLSSNDDGYENIDSLTRKVRQFRERSETEYALLRTSVSRPCSCTHEHDYEVVFPH

opentargets:
regulation of B cell receptor signaling pathway [GO:0050855]; regulation of lymphocyte migration [GO:2000401]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JQS6-1; Sequence=Displayed; Name=2; IsoId=Q5JQS6-2; Sequence=VSP_026612; Note=No experimental confirmation available.; 


uniprotID: P35225
geneSymbol: IL13
reactome: R-HSA-6785807;R-HSA-9012546;
pdb: 1GA3;1IJZ;1IK0;1J9U;3BPO;3G6D;3ITR;3ITS;3L5W;3L5X;3LB6;4I77;4PS4;5E4E;5L6Y;
name: Interleukin-13 (IL-13)
length: 146
drug: DB05305;
snps: rs20541
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MHPLLNPLLLALGLMALLLTTVIALTCLGGFASPGPVPPSTALRELIEELVNITQNQKAPLCNGSMVWSINLTAGMYCAALESLINVSGCSAIEKTQRMLSGFCPHKVSAGQFSSLHVRDTKIEVAQFVKDLLLHLKKLFREGRFN

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-13 receptor binding [GO:0005144]; cellular response to mechanical stimulus [GO:0071260]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; microglial cell activation [GO:0001774]; negative regulation of complement-dependent cytotoxicity [GO:1903660]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of lung ciliated cell differentiation [GO:1901247]; negative regulation of NAD(P)H oxidase activity [GO:0033861]; negative regulation of neuron death [GO:1901215]; negative regulation of transforming growth factor beta production [GO:0071635]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of connective tissue growth factor production [GO:0032723]; positive regulation of gene expression [GO:0010628]; positive regulation of immunoglobulin production [GO:0002639]; positive regulation of lung goblet cell differentiation [GO:1901251]; positive regulation of macrophage activation [GO:0043032]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of pancreatic stellate cell proliferation [GO:2000231]; positive regulation of protein secretion [GO:0050714]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of proton transport [GO:0010155]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; response to nicotine [GO:0035094]


uniprotID: P40933
geneSymbol: IL15
reactome: R-HSA-8983432;
pdb: 2XQB;2Z3Q;2Z3R;4GS7;
name: Interleukin-15 (IL-15)
length: 162
go: ENSG00000164136;
sequence:
MRISKPHLRSISIQCYLCLLLNSHFLTEAGIHVFILGCFSAGLPKTEANWVNVISDLKKIEDLIQSMHIDATLYTESDVHPSCKVTAMKCFLLELQVISLESGDASIHDTVENLIILANNSLSSNGNVTESGCKECEELEEKNIKEFLQSFVHIVQMFINTS

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; aging [GO:0007568]; cell maturation [GO:0048469]; cell-cell signaling [GO:0007267]; cellular response to vitamin D [GO:0071305]; extrathymic T cell selection [GO:0045062]; hyaluronan metabolic process [GO:0030212]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-15-mediated signaling pathway [GO:0035723]; lymph node development [GO:0048535]; natural killer cell differentiation [GO:0001779]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of smooth muscle cell proliferation [GO:0048662]; NK T cell proliferation [GO:0001866]; positive regulation of cell proliferation [GO:0008284]; positive regulation of immune response [GO:0050778]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of natural killer cell differentiation [GO:0032825]; positive regulation of natural killer cell proliferation [GO:0032819]; positive regulation of protein O-linked glycosylation [GO:1904100]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tissue remodeling [GO:0034105]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of defense response to virus by host [GO:0050691]; regulation of T cell differentiation [GO:0045580]; signal transduction [GO:0007165]; skeletal muscle atrophy [GO:0014732]; tyrosine phosphorylation of STAT protein [GO:0007260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=IL15-S48AA; IsoId=P40933-1; Sequence=Displayed; Name=IL15-S21AA; IsoId=P40933-2; Sequence=VSP_002660; 

location:
SUBCELLULAR LOCATION: Isoform IL15-S48AA: Secreted.; SUBCELLULAR LOCATION: Isoform IL15-S21AA: Cytoplasm. Nucleus. Note=IL15-S21AA is not secreted, but rather is stored intracellularly, appearing in the nucleus and cytoplasmic components.


uniprotID: Q14005
geneSymbol: IL16
reactome: R-HSA-449836;
pdb: 1I16;1X6D;5FB8;
name: Pro-interleukin-16 [Cleaved into: Interleukin-16 (IL-16) (Lymphocyte chemoattractant factor) (LCF)]
length: 1332
go: ENSG00000172349;
snps: rs4072111 rs17875512 rs17875513 rs34101586 rs11556218 rs34159341
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; CD4 receptor binding [GO:0042609]; cytokine activity [GO:0005125]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; induction of positive chemotaxis [GO:0050930]; leukocyte chemotaxis [GO:0030595]; regulation of calcium ion transport [GO:0051924]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; Synonyms=nPro-IL-16; IsoId=Q14005-1; Sequence=Displayed; Note=Produced by alternative promoter usage. Is probably proteolytically processed to yield IL-16.; Name=2; IsoId=Q14005-2; Sequence=VSP_037459; Note=Produced by alternative splicing of isoform 1. Is probably proteolytically processed to yield IL-16.; Name=3; Synonyms=Pro-IL-16; IsoId=Q14005-3; Sequence=VSP_037458; Note=Produced by alternative promoter usage. Is proteolytically processed to yield IL-16.; Name=4; IsoId=Q14005-4; Sequence=VSP_037458, VSP_037459, VSP_057192; 

location:
SUBCELLULAR LOCATION: Interleukin-16: Secreted.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus.


uniprotID: Q9UHF5
geneSymbol: IL17B
length: 180
go: ENSG00000127743;
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-17B (IL-17B) (Cytokine Zcyto7) (Interleukin-20) (IL-20) (Neuronal interleukin-17-related factor)

sequence:
MDWPHNLLFLLTISIFLGLGQPRSPKSKRKGQGRPGPLAPGPHQVPLDLVSRMKPYARMEEYERNIEEMVAQLRNSSELAQRKCEVNLQLWMSNKRSLSPWGYSINHDPSRIPVDLPEARCLCLGCVNPFTMQEDRSMVSVPVFSQVPVRRRLCPPPPRTGPCRQRAVMETIAVGCTCIF

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cell-cell signaling [GO:0007267]; immune response [GO:0006955]; inflammatory response [GO:0006954]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]


uniprotID: Q9UHD0
geneSymbol: IL19
reactome: R-HSA-8854691;
pdb: 1N1F;
name: Interleukin-19 (IL-19) (Melanoma differentiation-associated protein-like protein) (NG.1)
length: 177
go: ENSG00000142224;
snps: rs2243191
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKLQCVSLWLLGTILILCSVDNHGLRRCLISTDMHHIEESFQEIKRAIQAKDTFPNVTILSTLETLQIIKPLDVCCVTKNLLAFYVDRVFKDHQEPNPKILRKISSIANSFLYMQKTLRQCQEQRQCHCRQEATNATRVIHDNYDQLEVHAAAIKSLGELDVFLAWINKNHEVMFSA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; apoptotic process [GO:0006915]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; interleukin-6 biosynthetic process [GO:0042226]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; reactive oxygen species metabolic process [GO:0072593]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UHD0-1; Sequence=Displayed; Name=2; IsoId=Q9UHD0-2; Sequence=VSP_046253; Name=3; IsoId=Q9UHD0-3; Sequence=VSP_057193; 


uniprotID: P01583
geneSymbol: IL1A
reactome: R-HSA-2559582;R-HSA-448706;R-HSA-6783783;R-HSA-6785807;R-HSA-9020702;
pdb: 1ITA;2ILA;2KKI;2L5X;5UC6;
name: Interleukin-1 alpha (IL-1 alpha) (Hematopoietin-1)
length: 271
go: ENSG00000115008;
drug: DB06372;
snps: rs3783531 rs17561 rs17562 rs3783581 rs1801715
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; copper ion binding [GO:0005507]; cytokine activity [GO:0005125]; interleukin-1 receptor binding [GO:0005149]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cellular response to heat [GO:0034605]; connective tissue replacement involved in inflammatory response wound healing [GO:0002248]; cytokine-mediated signaling pathway [GO:0019221]; ectopic germ cell programmed cell death [GO:0035234]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; fever generation [GO:0001660]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; negative regulation of cell proliferation [GO:0008285]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell division [GO:0051781]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of protein secretion [GO:0050714]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular endothelial growth factor production [GO:0010575]; response to copper ion [GO:0046688]

location:
SUBCELLULAR LOCATION: Secreted. Note=The lack of a specific hydrophobic segment in the precursor sequence suggests that IL-1 is released by damaged cells or is secreted by a mechanism differing from that used for other secretory proteins.


uniprotID: Q96QA5
geneSymbol: GSDMA
name: Gasdermin-A (Gasdermin-1)
length: 445
go: ENSG00000167914;
snps: rs3894194 rs7212938 rs7212944 rs56030650
sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; apoptotic process [GO:0006915]; pyroptosis [GO:0070269]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:17471240}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:P57764}. Cell membrane {ECO:0000250|UniProtKB:P57764}.


uniprotID: Q9BYG8
geneSymbol: GSDMC
name: Gasdermin-C (Melanoma-derived leucine zipper-containing extranuclear factor)
length: 508
go: ENSG00000147697;
snps: rs10090835 rs16904151 rs4144738
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; pyroptosis [GO:0070269]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11223543}. Cell membrane {ECO:0000250|UniProtKB:P57764}.


uniprotID: O60443
geneSymbol: GSDME
length: 496
go: ENSG00000105928;
snps: rs754554 rs876306 rs12540919
name:
Gasdermin-E (Inversely correlated with estrogen receptor expression 1) (ICERE-1) (Non-syndromic hearing impairment protein 5) [Cleaved into: Gasdermin-E, N-terminal (GSDME-NT); Gasdermin-E, C-terminal (GSDME-CT)]

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cardiolipin binding [GO:1901612]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; cell death [GO:0008219]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to virus [GO:0098586]; inner ear receptor cell differentiation [GO:0060113]; necrotic cell death [GO:0070265]; negative regulation of cell proliferation [GO:0008285]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of MAPK cascade [GO:0043410]; pyroptosis [GO:0070269]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O60443-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O60443-2; Sequence=VSP_004190; Note=No experimental confirmation available.; Name=3; IsoId=O60443-3; Sequence=VSP_044276; 

location:
SUBCELLULAR LOCATION: Gasdermin-E, N-terminal: Cell membrane {ECO:0000269|PubMed:28045099, ECO:0000269|PubMed:28459430}.; SUBCELLULAR LOCATION: Gasdermin-E: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P57764, ECO:0000269|PubMed:28045099}.


uniprotID: P18510
geneSymbol: IL1RN
reactome: R-HSA-6783783;R-HSA-9020702;
pdb: 1ILR;1ILT;1IRA;1IRP;1ITN;2IRT;
length: 177
go: ENSG00000136689;
drug: DB06372;
snps: rs45507693
name:
Interleukin-1 receptor antagonist protein (IL-1RN) (IL-1ra) (IRAP) (ICIL-1RA) (IL1 inhibitor) (Anakinra)

sequence:
MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; interleukin-1 receptor antagonist activity [GO:0005152]; interleukin-1 receptor binding [GO:0005149]; interleukin-1 type I receptor antagonist activity [GO:0045352]; interleukin-1 type II receptor antagonist activity [GO:0045353]; interleukin-1, type I receptor binding [GO:0005150]; interleukin-1, type II receptor binding [GO:0005151]; acute-phase response [GO:0006953]; carboxylic acid metabolic process [GO:0019752]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to norepinephrine stimulus [GO:0071874]; chronic inflammatory response to antigenic stimulus [GO:0002439]; cytokine-mediated signaling pathway [GO:0019221]; female pregnancy [GO:0007565]; fever generation [GO:0001660]; immune response [GO:0006955]; insulin secretion [GO:0030073]; interleukin-1-mediated signaling pathway [GO:0070498]; lipid metabolic process [GO:0006629]; memory [GO:0007613]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell migration [GO:0030336]; negative regulation of glutamate secretion [GO:0014050]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of interleukin-1-mediated signaling pathway [GO:2000660]; negative regulation of membrane potential [GO:0045837]; neutrophil chemotaxis [GO:0030593]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; response to activity [GO:0014823]; response to drug [GO:0042493]; response to glucocorticoid [GO:0051384]; response to interleukin-1 [GO:0070555]; response to interleukin-4 [GO:0070670]; response to starvation [GO:0042594]; sensory perception of pain [GO:0019233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P18510-1; Sequence=Displayed; Name=2; Synonyms=icIL-1ra; IsoId=P18510-2; Sequence=VSP_002649; Name=3; Synonyms=icIL-1ra type II; IsoId=P18510-3; Sequence=VSP_002650; Name=4; IsoId=P18510-4; Sequence=VSP_002651; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.


uniprotID: Q9NPH9
geneSymbol: IL26
reactome: R-HSA-8854691;
name: Interleukin-26 (IL-26) (Protein AK155)
length: 171
go: ENSG00000111536;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18483078}.
sequence:
MLVNFILRCGLLLVTLSLAIAKHKQSSFTKSCYPRGTLSQAVDALYIKAAWLKATIPEDRIKNIRLLKKKTKKQFMKNCQFQEQLLSFFMEDVFGQLQLQGCKKIRFVEDFHSLRQKLSHCISCASSAREMKSITRMKRIFYRIGNKGIYKAISELDILLSWIKKLLESSQ

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; negative regulation of epithelial cell proliferation [GO:0050680]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of stress-activated MAPK cascade [GO:0032874]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q8NEV9
geneSymbol: IL27
reactome: R-HSA-9020956;
name: Interleukin-27 subunit alpha (IL-27 subunit alpha) (IL-27-A) (IL27-A) (Interleukin-30) (p28)
length: 243
go: ENSG00000197272;
snps: rs17855750 rs181206
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-27 receptor binding [GO:0045523]; signaling receptor binding [GO:0005102]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-27-mediated signaling pathway [GO:0070106]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of interferon-gamma biosynthetic process [GO:0045078]; regulation of T cell proliferation [GO:0042129]; regulation of T-helper 1 cell differentiation [GO:0045625]; response to bacterium [GO:0009617]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12121660}. Note=Does not seem to be secreted without coexpression of EBI3.


uniprotID: P48637
geneSymbol: GSS
reactome: R-HSA-174403;R-HSA-5579006;
pdb: 2HGS;
name: Glutathione synthetase (GSH synthetase) (GSH-S) (EC 6.3.2.3) (Glutathione synthase)
length: 474
go: ENSG00000100983;
drug: DB06151;DB03408;DB00143;DB00145;DB00151;DB04395;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; glutathione binding [GO:0043295]; glutathione synthase activity [GO:0004363]; glycine binding [GO:0016594]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; protein homodimerization activity [GO:0042803]; aging [GO:0007568]; cellular amino acid metabolic process [GO:0006520]; glutathione biosynthetic process [GO:0006750]; nervous system development [GO:0007399]; response to amino acid [GO:0043200]; response to cadmium ion [GO:0046686]; response to nutrient levels [GO:0031667]; response to oxidative stress [GO:0006979]; response to tumor necrosis factor [GO:0034612]; response to xenobiotic stimulus [GO:0009410]

snps:
rs759253242 rs28938472 rs34239729 rs121909308 rs1325986563 rs121909309 rs1296000099 rs148640446 rs34852238 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48637-1; Sequence=Displayed; Name=2; IsoId=P48637-2; Sequence=VSP_047617; Note=Detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen.; 


uniprotID: P00390
geneSymbol: GSR
reactome: R-HSA-2408550;R-HSA-3299685;R-HSA-499943;R-HSA-5628897;
name: Glutathione reductase, mitochondrial (GR) (GRase) (EC 1.8.1.7)
length: 522
go: ENSG00000104687;
drug: DB02895;DB02153;DB00262;DB03147;DB00143;DB02553;DB09110;DB03867;DB00157;DB03310;
snps: rs8190955 rs8190976 rs8190976 rs8190997 rs8191004 rs2020916
pdb:
1ALG;1BWC;1DNC;1GRA;1GRB;1GRE;1GRF;1GRG;1GRH;1GRT;1GSN;1K4Q;1XAN;2AAQ;2GH5;2GRT;3DJG;3DJJ;3DK4;3DK8;3DK9;3GRS;3GRT;3SQP;4GR1;4GRT;5GRT;

sequence:

opentargets:
cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; flavin adenine dinucleotide binding [GO:0050660]; glutathione-disulfide reductase activity [GO:0004362]; NADP binding [GO:0050661]; cell redox homeostasis [GO:0045454]; cellular response to oxidative stress [GO:0034599]; glutathione metabolic process [GO:0006749]; nucleobase-containing small molecule interconversion [GO:0015949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=5;  Name=Mitochondrial; IsoId=P00390-1; Sequence=Displayed; Name=Cytoplasmic; IsoId=P00390-2; Sequence=VSP_018972; Note=Produced by alternative initiation of isoform Mitochondrial.; Name=2; Synonyms=delta8; IsoId=P00390-3; Sequence=VSP_042908; Name=3; Synonyms=delta9; IsoId=P00390-4; Sequence=VSP_042909; Note=Expressed at very high levels in peripheral blood.; Name=4; Synonyms=delta8+9; IsoId=P00390-5; Sequence=VSP_042908, VSP_042909; 

location:
SUBCELLULAR LOCATION: Isoform Mitochondrial: Mitochondrion.; SUBCELLULAR LOCATION: Isoform Cytoplasmic: Cytoplasm.


uniprotID: Q16777
geneSymbol: HIST2H2AC
name: Histone H2A type 2-C (Histone H2A-GL101) (Histone H2A/q)
length: 129
go: ENSG00000184260;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYMAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHKAKSK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]


uniprotID: Q99878
geneSymbol: HIST1H2AJ
name: Histone H2A type 1-J (Histone H2A/e)
length: 128
go: ENSG00000276368;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKTK


uniprotID: Q9BTM1
geneSymbol: H2AFJ
pdb: 4EDU;
name: Histone H2A.J (H2a/j)
length: 129
go: ENSG00000246705;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Chromosome {ECO:0000250}.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;

sequence:
MSGRGKQGGKVRAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESQKTKSK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BTM1-1; Sequence=Displayed; Name=2; IsoId=Q9BTM1-2; Sequence=VSP_034750; 


uniprotID: Q7L7L0
geneSymbol: HIST3H2A
reactome: R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;
name: Histone H2A type 3
length: 130
go: ENSG00000181218;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYSERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGRVTIAQGGVLPNIQAVLLPKKTESHHKAKGK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nuclear nucleosome [GO:0000788]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]; nucleosome disassembly [GO:0006337]; UV-damage excision repair [GO:0070914]


uniprotID: P0C0S5
geneSymbol: H2AFZ
pdb: 1F66;3WA9;4CAY;4NFT;5B31;5B32;5B33;5CHL;5FUG;5Z30;
name: Histone H2A.Z (H2A/z)
length: 128
go: ENSG00000164032;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MAGGKAGKDSGKAKTKAVSRSQRAGLQFPVGRIHRHLKSRTTSHGRVGATAAVYSAAILEYLTAEVLELAGNASKDLKVKRITPRHLQLAIRGDEELDSLIKATIAGGGVIPHIHKSLIGKKGQQKTV

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nuclear euchromatin [GO:0005719]; nuclear heterochromatin [GO:0005720]; nucleosome [GO:0000786]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular response to estradiol stimulus [GO:0071392]; chromatin organization [GO:0006325]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q5QNW6
geneSymbol: HIST2H2BF
reactome: R-HSA-3214815;R-HSA-3214847;R-HSA-5689880;
name: Histone H2B type 2-F
length: 126
go: ENSG00000203814;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPDPAKSAPAPKKGSKKAVTKVQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5QNW6-1; Sequence=Displayed; Name=2; IsoId=Q5QNW6-2; Sequence=VSP_043431; Note=No experimental confirmation available.; 


uniprotID: Q99879
geneSymbol: HIST1H2BM
name: Histone H2B type 1-M (Histone H2B.e) (H2B/e)
length: 126
go: ENSG00000273703;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPEPVKSAPVPKKGSKKAINKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: Q99877
geneSymbol: HIST1H2BN
name: Histone H2B type 1-N (Histone H2B.d) (H2B/d)
length: 126
go: ENSG00000233822;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPEPSKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: Q6DN03
geneSymbol: HIST2H2BC
name: Putative histone H2B type 2-C (Histone H2B.t) (H2B/t)
length: 193
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPEPAKFAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSIYVYKVLKRVHPDTGIWCKAMGIMNSFLNDIFERIAGEASRLAHYNKRSTITSRRSRRPCACCCPASWPSTPCPRAPRRSPSTPAPSESLPGPGARSLPPSLPPRVAGCFVSKGSFQGHLTTSVKESFLCCQSQLMFLASRLVNFRRAHNTKHR

opentargets:
nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]


uniprotID: Q6DRA6
geneSymbol: HIST2H2BD
name: Putative histone H2B type 2-D
length: 164
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPEPAKFAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSIYVYKVLKRVHPDTGIWCKAMGIMNSFLNDIFERIAGEASRLAHYNKRSTITSRRSRRPCACCCPASWPSTPCPRAPRRSPSTPAPSESLPGPGARSLPPSLPPRVAGCFVSKGSFQGHLTPLVK

opentargets:
nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]


uniprotID: O00629
geneSymbol: KPNA4
reactome: R-HSA-1169408;R-HSA-168276;
pdb: 4UAE;5TBK;5XZX;6BVV;6BVZ;6BW9;6BWA;6BWB;
name: Importin subunit alpha-3 (Importin alpha Q1) (Qip1) (Karyopherin subunit alpha-4)
length: 521
go: ENSG00000186432;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear import signal receptor activity [GO:0061608]; protein transporter activity [GO:0008565]; modulation by virus of host process [GO:0019054]; NLS-bearing protein import into nucleus [GO:0006607]; response to hydrogen peroxide [GO:0042542]


uniprotID: P62805
name: Histone H4
length: 103
snps: rs747622981
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
geneSymbol:
HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4

reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214841;R-HSA-3214842;R-HSA-3214847;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-4551638;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

pdb:
1ZKK;2BQZ;2CV5;2IG0;2KWN;2KWO;2LVM;2QQS;2RJE;2RNY;2RS9;3A6N;3AFA;3AN2;3AV1;3AV2;3AYW;3AZE;3AZF;3AZG;3AZH;3AZI;3AZJ;3AZK;3AZL;3AZM;3AZN;3CFS;3CFV;3F9W;3F9X;3F9Y;3F9Z;3IJ1;3JPX;3NQJ;3NQU;3O36;3QBY;3QZS;3QZT;3QZV;3R45;3UVW;3UVX;3UVY;3UW9;3W96;3W97;3W98;3W99;3WA9;3WAA;3WKJ;3WTP;3X1S;3X1T;3X1U;3X1V;4GQB;4H9N;4H9O;4H9P;4H9Q;4H9R;4H9S;4HGA;4M38;4N3W;4N4F;4QUT;4QUU;4QYD;4U9W;4YM5;4YM6;4YY6;4YYD;4YYG;4YYH;4YYI;4YYJ;4YYK;4YYM;4YYN;4Z2M;4Z5T;5AV5;5AV6;5AV8;5AV9;5AVB;5AVC;5AY8;5B0Y;5B0Z;5B24;5B2I;5B2J;5B31;5B32;5B33;5B40;5BNV;5BNX;5BO0;5C3I;5CPI;5CPJ;5CPK;5FA5;5FFW;5FWE;5GSE;5GSU;5GT0;5GT3;5GTC;5GXQ;5JA4;5JRG;5KDM;5TEG;5X7X;5XF3;5XF4;5XF5;5Y0C;5Y0D;5Z30;6BUZ;6C0W;6ETX;6FML;

sequence:
MSGRGKGGKGLGKGGAKRHRKVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGRTLYGFGG

go:
ENSG00000158406;ENSG00000197061;ENSG00000197238;ENSG00000197837;ENSG00000270276;ENSG00000270882;ENSG00000273542;ENSG00000274618;ENSG00000275126;ENSG00000276180;ENSG00000276966;ENSG00000277157;ENSG00000278637;ENSG00000278705;

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; nuclear chromosome [GO:0000228]; nuclear chromosome, telomeric region [GO:0000784]; nuclear nucleosome [GO:0000788]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; cellular protein metabolic process [GO:0044267]; CENP-A containing nucleosome assembly [GO:0034080]; chromatin silencing at rDNA [GO:0000183]; DNA replication-dependent nucleosome assembly [GO:0006335]; DNA replication-independent nucleosome assembly [GO:0006336]; DNA-templated transcription, initiation [GO:0006352]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of megakaryocyte differentiation [GO:0045653]; nucleosome assembly [GO:0006334]; protein heterotetramerization [GO:0051290]; regulation of gene silencing by miRNA [GO:0060964]; regulation of megakaryocyte differentiation [GO:0045652]; telomere capping [GO:0016233]; telomere organization [GO:0032200]


uniprotID: A9QM74
geneSymbol: KPNA7
reactome: R-HSA-1169408;R-HSA-168276;
name: Importin subunit alpha-8 (Karyopherin subunit alpha-7)
length: 516
go: ENSG00000185467;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20701745}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nuclear import signal receptor activity [GO:0061608]; protein transporter activity [GO:0008565]; modulation by virus of host process [GO:0019054]; protein import into nucleus [GO:0006606]


uniprotID: O60243
geneSymbol: HS6ST1
reactome: R-HSA-2022928;
name: Heparan-sulfate 6-O-sulfotransferase 1 (HS6ST-1) (EC 2.8.2.-)
length: 411
go: ENSG00000136720;
snps: rs200268730 rs201307896 rs780352591 rs761325768 rs199538589
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; heparan sulfate 6-O-sulfotransferase activity [GO:0017095]; sulfotransferase activity [GO:0008146]; angiogenesis [GO:0001525]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process, enzymatic modification [GO:0015015]; labyrinthine layer blood vessel development [GO:0060716]; lung alveolus development [GO:0048286]; neuron development [GO:0048666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60243-1; Sequence=Displayed; Name=2; IsoId=O60243-2; Sequence=VSP_037048, VSP_037049; Note=No experimental confirmation available.; 


uniprotID: Q58FF8
geneSymbol: HSP90AB2P
name: Putative heat shock protein HSP 90-beta 2 (Heat shock protein 90-beta b) (Heat shock protein 90Bb)
length: 381
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q58FF7
geneSymbol: HSP90AB3P
name: Putative heat shock protein HSP 90-beta-3 (Heat shock protein 90-beta c) (Heat shock protein 90Bc)
length: 597
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q58FF6
geneSymbol: HSP90AB4P
name: Putative heat shock protein HSP 90-beta 4
length: 505
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q5JVS0
geneSymbol: HABP4
reactome: R-HSA-114608;
length: 413
go: ENSG00000130956;
drug: DB08818;
name:
Intracellular hyaluronan-binding protein 4 (IHABP-4) (IHABP4) (Hyaluronan-binding protein 4) (Ki-1/57 intracellular antigen)

sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; extracellular region [GO:0005576]; Gemini of coiled bodies [GO:0097504]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleus [GO:0005634]; sarcomere [GO:0030017]; sarcoplasm [GO:0016528]; RNA binding [GO:0003723]; cellular response to mechanical stimulus [GO:0071260]; mRNA processing [GO:0006397]; negative regulation of DNA binding [GO:0043392]; platelet degranulation [GO:0002576]; positive regulation of RNA splicing [GO:0033120]; positive regulation of translational initiation [GO:0045948]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:10887182, ECO:0000269|PubMed:9523163}; IsoId=Q5JVS0-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q5JVS0-2; Sequence=VSP_052194; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14699138, ECO:0000269|PubMed:16455055, ECO:0000269|PubMed:16879614, ECO:0000269|PubMed:19523114, ECO:0000269|PubMed:9523163}. Cytoplasm {ECO:0000269|PubMed:14699138, ECO:0000269|PubMed:16455055, ECO:0000269|PubMed:16879614, ECO:0000269|PubMed:19523114, ECO:0000269|PubMed:9523163}. Cytoplasm, Stress granule {ECO:0000269|PubMed:21771594}. Cytoplasm, sarcoplasm {ECO:0000250|UniProtKB:A1L1K8}. Nucleus, Nuclear body {ECO:0000269|PubMed:19523114}. Nucleus, nucleolus {ECO:0000269|PubMed:19523114}. Nucleus speckle {ECO:0000269|PubMed:19523114}. Nucleus, Cajal body {ECO:0000269|PubMed:19523114}. Nucleus, gem {ECO:0000269|PubMed:19523114}. Note=Transported into the nuclear compartment in activated leukocytes (PubMed:9523163). Inhibition of methylation alters its distribution between the nuclear and cytoplasmic compartments (PubMed:16879614, PubMed:19523114). Methylation may be required for its localization in subnuclear structures, such as nucleoli, nuclear speckles, Cajal bodies and Gemini of coiled bodies (gems) (PubMed:19523114). Colocalizes with FMR1, FXR1 and FXR2 in cytoplasmic stress granules (PubMed:21771594). In myocardial cells, localization at the sarcoplasm is reduced in response to mechanical stress (By similarity). {ECO:0000250|UniProtKB:A1L1K8, ECO:0000269|PubMed:16879614, ECO:0000269|PubMed:19523114, ECO:0000269|PubMed:21771594, ECO:0000269|PubMed:9523163}.


uniprotID: Q9UJ83
geneSymbol: HACL1
reactome: R-HSA-389599;R-HSA-9033241;
length: 578
go: ENSG00000131373;
location: SUBCELLULAR LOCATION: Peroxisome.
name:
2-hydroxyacyl-CoA lyase 1 (EC 4.1.-.-) (2-hydroxyphytanoyl-CoA lyase) (2-HPCL) (Phytanoyl-CoA 2-hydroxylase 2)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; carbon-carbon lyase activity [GO:0016830]; cofactor binding [GO:0048037]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; signaling receptor binding [GO:0005102]; thiamine pyrophosphate binding [GO:0030976]; fatty acid alpha-oxidation [GO:0001561]; protein complex oligomerization [GO:0051259]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UJ83-1; Sequence=Displayed; Name=2; IsoId=Q9UJ83-2; Sequence=VSP_054191; Note=No experimental confirmation available.; Name=4; IsoId=Q9UJ83-4; Sequence=VSP_054749, VSP_054750; Name=3; IsoId=Q9UJ83-3; Sequence=VSP_054192; Note=No experimental confirmation available.; 


uniprotID: O96004
geneSymbol: HAND1
length: 215
go: ENSG00000113196;
name:
Heart- and neural crest derivatives-expressed protein 1 (Class A basic helix-loop-helix protein 27) (bHLHa27) (Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1) (eHAND)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; blastocyst development [GO:0001824]; cardiac left ventricle formation [GO:0003218]; cardiac right ventricle formation [GO:0003219]; cardiac septum morphogenesis [GO:0060411]; cartilage morphogenesis [GO:0060536]; embryonic heart tube development [GO:0035050]; embryonic heart tube formation [GO:0003144]; heart development [GO:0007507]; heart looping [GO:0001947]; mesenchyme development [GO:0060485]; mesoderm formation [GO:0001707]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903026]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]; trophectodermal cell differentiation [GO:0001829]; trophoblast giant cell differentiation [GO:0060707]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Note=Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity. Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity (By similarity). {ECO:0000250}.


uniprotID: B0YJ81
geneSymbol: HACD1
reactome: R-HSA-75876;
length: 288
go: ENSG00000165996;
snps: rs7895850 rs7895850 rs11254692 rs1053926
name:
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 1) (HACD1) (Cementum-attachment protein) (CAP) (Protein-tyrosine phosphatase-like member A)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 3-hydroxy-arachidoyl-CoA dehydratase activity [GO:0102343]; 3-hydroxy-behenoyl-CoA dehydratase activity [GO:0102344]; 3-hydroxy-lignoceroyl-CoA dehydratase activity [GO:0102345]; 3-hydroxyacyl-CoA dehydratase activity [GO:0018812]; 3R-hydroxyacyl-CoA dehydratase activity [GO:0080023]; enzyme binding [GO:0019899]; hydroxyapatite binding [GO:0046848]; very-long-chain 3-hydroxyacyl-CoA dehydratase activity [GO:0102158]; cellular protein-containing complex assembly [GO:0034622]; cementum mineralization [GO:0071529]; fatty acid elongation [GO:0030497]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; multicellular organism development [GO:0007275]; positive regulation of cell-substrate adhesion [GO:0010811]; sphingolipid biosynthetic process [GO:0030148]; very long-chain fatty acid biosynthetic process [GO:0042761]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=B0YJ81-1; Sequence=Displayed; Name=2; Synonyms=CAP, cementum-attachment protein, PTPLA-CAP {ECO:0000303|PubMed:22067203}; IsoId=B0YJ81-2; Sequence=VSP_035363, VSP_035364; Note=Catalytically inactive since it lacks the active site but may have an alternative function. {ECO:0000269|PubMed:22067203}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18554506}; Multi-pass membrane protein {ECO:0000269|PubMed:18554506}.


uniprotID: P54257
geneSymbol: HAP1
name: Huntingtin-associated protein 1 (HAP-1) (Neuroan 1)
length: 671
go: ENSG00000173805;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; autophagosome [GO:0005776]; axon cytoplasm [GO:1904115]; cell junction [GO:0030054]; centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; dendrite [GO:0030425]; dendrite cytoplasm [GO:0032839]; endoplasmic reticulum [GO:0005783]; inclusion body [GO:0016234]; lysosome [GO:0005764]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; synaptic vesicle [GO:0008021]; brain-derived neurotrophic factor binding [GO:0048403]; ion channel binding [GO:0044325]; myosin binding [GO:0017022]; signaling receptor binding [GO:0005102]; anterograde axonal transport [GO:0008089]; anterograde axonal transport of mitochondrion [GO:0098957]; autophagy [GO:0006914]; brain development [GO:0007420]; cell projection organization [GO:0030030]; cerebellum development [GO:0021549]; chemical synaptic transmission [GO:0007268]; exocytosis [GO:0006887]; hypothalamus cell differentiation [GO:0021979]; mitochondrion distribution [GO:0048311]; negative regulation of amyloid-beta formation [GO:1902430]; neurogenesis [GO:0022008]; neurotrophin TRK receptor signaling pathway [GO:0048011]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0031587]; positive regulation of neurogenesis [GO:0050769]; positive regulation of neurotrophin production [GO:0032901]; positive regulation of non-motile cilium assembly [GO:1902857]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; protein localization [GO:0008104]; protein targeting [GO:0006605]; regulation of exocytosis [GO:0017157]; regulation of organelle transport along microtubule [GO:1902513]; retrograde axonal transport [GO:0008090]; vesicle transport along microtubule [GO:0047496]

snps:
rs4796604 rs4796603 rs4796693 rs35612698 rs11867808 rs8075017 rs34853043 rs4523977 rs34853043 rs8075017 rs34044330 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P54257-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P54257-2; Sequence=VSP_004278; Name=3; IsoId=P54257-3; Sequence=VSP_004277; Name=4; IsoId=P54257-4; Sequence=VSP_038754, VSP_004277; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9742138}. Cell projection, axon {ECO:0000269|PubMed:9742138}. Cytoplasm, cytoskeleton {ECO:0000250}. Lysosome {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250}. Mitochondrion {ECO:0000305|PubMed:9742138}. Nucleus {ECO:0000250}. Cytoplasmic vesicle, autophagosome {ECO:0000250}. Note=Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs). Localization to neuronal processes and neurite tips is decreased by YWHAZ. In the nucleus localizes to nuclear rods (By similarity). {ECO:0000250}.


uniprotID: Q13442
geneSymbol: PDAP1
reactome: R-HSA-6798695;
length: 181
go: ENSG00000106244;
name:
28 kDa heat- and acid-stable phosphoprotein (PDGF-associated protein) (PAP) (PDGFA-associated protein 1) (PAP1)

sequence:
MPKGGRKGGHKGRARQYTSPEEIDAQLQAEKQKAREEEEQKEGGDGAAGDPKKEKKSLDSDESEDEEDDYQQKRKGVEGLIDIENPNRVAQTTKKVTQLDLDGPKELSRREREEIEKQKAKERYMKMHLAGKTEQAKADLARLAIIRKQREEAARKKEEERKAKDDATLSGKRMQSLSLNK

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]; cell proliferation [GO:0008283]; neutrophil degranulation [GO:0043312]; signal transduction [GO:0007165]


uniprotID: O14929
geneSymbol: HAT1
reactome: R-HSA-3214847;
pdb: 2P0W;
name: Histone acetyltransferase type B catalytic subunit (EC 2.3.1.48) (Histone acetyltransferase 1)
length: 419
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromatin [GO:0000790]; nuclear chromosome, telomeric region [GO:0000784]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; H4 histone acetyltransferase activity [GO:0010485]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; chromatin silencing at telomere [GO:0006348]; DNA packaging [GO:0006323]; DNA replication-dependent nucleosome assembly [GO:0006335]; DNA replication-independent nucleosome assembly [GO:0006336]; histone H4 acetylation [GO:0043967]; internal protein amino acid acetylation [GO:0006475]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=a, Nuclear; IsoId=O14929-1; Sequence=Displayed; Name=B; Synonyms=b; IsoId=O14929-2; Sequence=VSP_041129; 

location:
SUBCELLULAR LOCATION: Isoform A: Nucleus matrix.; SUBCELLULAR LOCATION: Isoform B: Cytoplasm. Nucleus. Nucleus matrix. Nucleus, nucleoplasm. Note=Localization is predominantly nuclear in normal cells. Treatment with hydrogen peroxide or ionizing radiation enhances nuclear localization through redistribution of existing protein.


uniprotID: O94927
geneSymbol: HAUS5
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: HAUS augmin-like complex subunit 5
length: 633
go: ENSG00000249115;
snps: rs2301596 rs2285412
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; microtubule [GO:0005874]; spindle [GO:0005819]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94927-1; Sequence=Displayed; Name=2; IsoId=O94927-2; Sequence=VSP_013927, VSP_013928; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.


uniprotID: Q9BT25
geneSymbol: HAUS8
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 410
go: ENSG00000131351;
snps: rs1130222
name:
HAUS augmin-like complex subunit 8 (HEC1/NDC80-interacting centrosome-associated protein 1) (Sarcoma antigen NY-SAR-48)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; nuclear microtubule [GO:0005880]; spindle pole [GO:0000922]; microtubule binding [GO:0008017]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BT25-1; Sequence=Displayed; Name=2; IsoId=Q9BT25-2; Sequence=VSP_031543; Note=No experimental confirmation available.; Name=3; IsoId=Q9BT25-3; Sequence=VSP_047167; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000305|PubMed:19369198}. Note=During interphase, primarily cytoplasmic and associates with centrosomes and with the mitotic spindles, preferentially at the spindle pole vicinity. During anaphase and telophase, additionally associates with the spindle midzone and midbody, respectively. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.


uniprotID: Q9P1Z3
geneSymbol: HCN3
reactome: R-HSA-1296061;
name: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3
length: 774
go: ENSG00000143630;
snps: rs35001694
sequence:

opentargets:
cone cell pedicle [GO:0044316]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; cAMP binding [GO:0030552]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated sodium channel activity [GO:0005248]; cellular response to dopamine [GO:1903351]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; response to cisplatin [GO:0072718]; sodium ion transmembrane transport [GO:0035725]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16043489}; Multi-pass membrane protein {ECO:0000269|PubMed:16043489}.


uniprotID: Q9NPH2
geneSymbol: ISYNA1
reactome: R-HSA-1855183;
length: 558
go: ENSG00000105655;
drug: DB01840;DB04516;DB04077;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Inositol-3-phosphate synthase 1 (IPS 1) (EC 5.5.1.4) (Myo-inositol 1-phosphate synthase) (MI-1-P synthase) (MIP synthase) (hIPS) (Myo-inositol 1-phosphate synthase A1) (hINO1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inositol-3-phosphate synthase activity [GO:0004512]; inositol biosynthetic process [GO:0006021]; inositol phosphate metabolic process [GO:0043647]; phospholipid biosynthetic process [GO:0008654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NPH2-1; Sequence=Displayed; Name=2; IsoId=Q9NPH2-2; Sequence=VSP_032324; Name=3; IsoId=Q9NPH2-3; Sequence=VSP_046065; Note=No experimental confirmation available.; 


uniprotID: Q9Y5Z7
geneSymbol: HCFC2
name: Host cell factor 2 (HCF-2) (C2 factor)
length: 792
go: ENSG00000111727;
snps: rs2700500 rs17035206
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transcription coactivator activity [GO:0003713]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5Z7-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Z7-2; Sequence=VSP_057024, VSP_057025; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10196288}. Nucleus {ECO:0000269|PubMed:10196288}.


uniprotID: Q9ULG1
geneSymbol: INO80
reactome: R-HSA-5689603;R-HSA-5696394;
pdb: 6ETX;
length: 1556
go: ENSG00000128908;
snps: rs34153025 rs34178030
name:
Chromatin-remodeling ATPase INO80 (hINO80) (EC 3.6.4.-) (DNA helicase-related INO80 complex homolog 1) (DNA helicase-related protein INO80) (INO80 complex subunit A)

sequence:

opentargets:
cytoplasm [GO:0005737]; Ino80 complex [GO:0031011]; intermediate filament cytoskeleton [GO:0045111]; microtubule [GO:0005874]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spindle [GO:0005819]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; histone binding [GO:0042393]; ATP-dependent chromatin remodeling [GO:0043044]; cell division [GO:0051301]; cellular response to ionizing radiation [GO:0071479]; cellular response to UV [GO:0034644]; chromatin remodeling [GO:0006338]; DNA duplex unwinding [GO:0032508]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; mitotic sister chromatid segregation [GO:0000070]; nucleosome mobilization [GO:0042766]; positive regulation of cell growth [GO:0030307]; positive regulation of nuclear cell cycle DNA replication [GO:0010571]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of transcription from RNA polymerase II promoter in response to stress [GO:0043618]; spindle assembly [GO:0051225]; transcription, DNA-templated [GO:0006351]; UV-damage excision repair [GO:0070914]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20237820}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00746, ECO:0000269|PubMed:16298340, ECO:0000269|PubMed:18026119, ECO:0000269|PubMed:20237820, ECO:0000269|PubMed:20971067}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20237820}. Chromosome {ECO:0000269|PubMed:20237820}. Note=Localizes to the cytoplasm in quiescent cell (PubMed:20237820). Associates with spindle microtubules during mitosis (PubMed:20237820). Colocalizes with PCNA at replication forks during S-phase (PubMed:20237820). Recruited to DNA damage sites in a ACTR8-dependent manner (PubMed:20971067). {ECO:0000269|PubMed:20237820, ECO:0000269|PubMed:20971067}.


uniprotID: Q8WUI4
geneSymbol: HDAC7
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-3108214;R-HSA-8943724;
pdb: 3C0Y;3C0Z;3C10;3ZNR;3ZNS;
name: Histone deacetylase 7 (HD7) (EC 3.5.1.98) (Histone deacetylase 7A) (HD7a)
length: 952
go: ENSG00000061273;
drug: DB05015;DB06603;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone deacetylase complex [GO:0000118]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 14-3-3 protein binding [GO:0071889]; activating transcription factor binding [GO:0033613]; chromatin binding [GO:0003682]; metal ion binding [GO:0046872]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; protein kinase binding [GO:0019901]; protein kinase C binding [GO:0005080]; repressing transcription factor binding [GO:0070491]; SUMO transferase activity [GO:0019789]; transcription corepressor activity [GO:0003714]; cell-cell junction assembly [GO:0007043]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=Q8WUI4-1; Sequence=Displayed; Name=2; IsoId=Q8WUI4-2; Sequence=VSP_007429, VSP_007431; Note=No experimental confirmation available.; Name=3; IsoId=Q8WUI4-3; Sequence=VSP_008772; Name=4; IsoId=Q8WUI4-4; Sequence=VSP_007430; Note=No experimental confirmation available.; Name=5; IsoId=Q8WUI4-5; Sequence=VSP_038104; Name=6; IsoId=Q8WUI4-6; Sequence=VSP_038105; Name=7; IsoId=Q8WUI4-7; Sequence=VSP_038104, VSP_008772; Name=8; IsoId=Q8WUI4-8; Sequence=VSP_038106, VSP_038107; Name=9; IsoId=Q8WUI4-9; Sequence=VSP_038102; Name=10; IsoId=Q8WUI4-10; Sequence=VSP_038103; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=In the nucleus, it associates with distinct subnuclear dot-like structures. Shuttles between the nucleus and the cytoplasm. Treatment with EDN1 results in shuttling from the nucleus to the perinuclear region. The export to cytoplasm depends on the interaction with the 14-3-3 protein YWHAE and is due to its phosphorylation.


uniprotID: P51858
geneSymbol: HDGF
reactome: R-HSA-381038;
pdb: 1RI0;2NLU;
name: Hepatoma-derived growth factor (HDGF) (High mobility group protein 1-like 2) (HMG-1L2)
length: 240
go: ENSG00000143321;
snps: rs4399146
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; nucleotide binding [GO:0000166]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; transcription corepressor binding [GO:0001222]; cell proliferation [GO:0008283]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of transcription by RNA polymerase II [GO:0000122]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51858-1; Sequence=Displayed; Name=2; IsoId=P51858-2; Sequence=VSP_045620; Note=No experimental confirmation available.; Name=3; IsoId=P51858-3; Sequence=VSP_047328; Note=Gene prediction based on EST data.; 


uniprotID: Q9NRR6
geneSymbol: INPP5E
reactome: R-HSA-1660514;R-HSA-5624958;
pdb: 2XSW;
length: 644
go: ENSG00000148384;
name:
72 kDa inositol polyphosphate 5-phosphatase (EC 3.1.3.36) (Phosphatidylinositol 4,5-bisphosphate 5-phosphatase) (Phosphatidylinositol polyphosphate 5-phosphatase type IV)

sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; cytosol [GO:0005829]; Golgi cisterna membrane [GO:0032580]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; inositol-polyphosphate 5-phosphatase activity [GO:0004445]; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [GO:0004439]; inositol phosphate dephosphorylation [GO:0046855]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]

snps:
rs36064831 rs757936530 rs746212325 rs121918130 rs121918129 rs374152018 rs13297509 rs121918128 rs763992407 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRR6-1; Sequence=Displayed; Name=2; IsoId=Q9NRR6-2; Sequence=VSP_009799; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:19668215, ECO:0000269|PubMed:19668216, ECO:0000269|PubMed:24166846}. Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:Q9JII1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JII1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JII1}. Cell membrane {ECO:0000250|UniProtKB:Q9WVR1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9WVR1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9WVR1}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q9WVR1}. Cytoplasm {ECO:0000250|UniProtKB:Q9WVR1}. Note=Peripheral membrane protein associated with Golgi stacks. {ECO:0000250|UniProtKB:Q9JII1}.


uniprotID: Q9BT40
geneSymbol: INPP5K
reactome: R-HSA-1660499;
length: 448
go: ENSG00000132376;
snps: rs750781027 rs1060505038 rs1060505039 rs749383757 rs761612652 rs766046008 rs993849342
name:
Inositol polyphosphate 5-phosphatase K (EC 3.1.3.56) (Skeletal muscle and kidney-enriched inositol phosphatase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; trans-Golgi network [GO:0005802]; inositol bisphosphate phosphatase activity [GO:0016312]; inositol trisphosphate phosphatase activity [GO:0046030]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; inositol-polyphosphate 5-phosphatase activity [GO:0004445]; lipid phosphatase activity [GO:0042577]; phosphatidylinositol phosphate 5-phosphatase activity [GO:0034595]; phosphatidylinositol trisphosphate phosphatase activity [GO:0034594]; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity [GO:0034485]; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [GO:0004439]; vasopressin receptor activity [GO:0005000]; actin cytoskeleton organization [GO:0030036]; cellular response to cAMP [GO:0071320]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to hormone stimulus [GO:0032870]; cellular response to insulin stimulus [GO:0032869]; cellular response to tumor necrosis factor [GO:0071356]; dephosphorylation [GO:0016311]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; in utero embryonic development [GO:0001701]; inositol phosphate dephosphorylation [GO:0046855]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of dephosphorylation [GO:0035305]; negative regulation of glucose transmembrane transport [GO:0010829]; negative regulation of glycogen (starch) synthase activity [GO:2000466]; negative regulation of glycogen biosynthetic process [GO:0045719]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein targeting to membrane [GO:0090315]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of stress fiber assembly [GO:0051497]; negative regulation of transcription, DNA-templated [GO:0045892]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; positive regulation of renal water transport [GO:2001153]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of urine volume [GO:0035810]; protein localization to plasma membrane [GO:0072659]; regulation of glycogen biosynthetic process [GO:0005979]; response to insulin [GO:0032868]; ruffle assembly [GO:0097178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:10753883}; IsoId=Q9BT40-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10753883}; IsoId=Q9BT40-2; Sequence=VSP_050612; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:12536145, ECO:0000269|PubMed:26940976, ECO:0000269|PubMed:28190456}. Note=Following stimulation with EGF, translocates to membrane ruffles. {ECO:0000269|PubMed:12536145, ECO:0000269|PubMed:26940976}.


uniprotID: Q9H8Q6
geneSymbol: HEXA-AS1
length: 139
name:
Putative uncharacterized protein encoded by HEXA-AS1 (HEXA antisense RNA 1) (HEXA antisense gene protein 1)

sequence:
MTGKNVYFQSQLEAFHCLQYELFPSRLTINLLVTTHIPFPQTKPHIARCVFTESSKILLGLWVQDGECSEIMTGAWSCRALRRKSRNLFSEQLKIIPKDLHFRNTMLSSCIRNQLGGPFLLEVENNERLNYRSGEGRQL


uniprotID: P49441
geneSymbol: INPP1
reactome: R-HSA-1855183;
name: Inositol polyphosphate 1-phosphatase (IPP) (IPPase) (EC 3.1.3.57)
length: 399
go: ENSG00000151689;
snps: rs7592352 rs35616200
sequence:

opentargets:
cytosol [GO:0005829]; inositol-1,3,4-trisphosphate 1-phosphatase activity [GO:0052829]; inositol-1,4-bisphosphate 1-phosphatase activity [GO:0004441]; metal ion binding [GO:0046872]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; phosphate-containing compound metabolic process [GO:0006796]; phosphatidylinositol phosphorylation [GO:0046854]; signal transduction [GO:0007165]


uniprotID: Q6AI08
geneSymbol: HEATR6
name: HEAT repeat-containing protein 6 (Amplified in breast cancer protein 1)
length: 1181
go: ENSG00000068097;
opentargets: RNA binding [GO:0003723]
snps: rs3744376 rs16943991
sequence:


uniprotID: Q9NRV9
geneSymbol: HEBP1
reactome: R-HSA-418594;R-HSA-444473;
name: Heme-binding protein 1 (p22HBP)
length: 189
go: ENSG00000013583;
snps: rs1941
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12413491}.
sequence:
MLGMIKNSLFGSVETWPWQVLSKGDKEEVAYEERACEGGKFATVEVTDKPVDEALREAMPKVAKYAGGTNDKGIGMGMTVPISFAVFPNEDGSLQKKLKVWFRIPNQFQSDPPAPSDKSVKIEEREGITVYSMQFGGYAKEADYVAQATRLRAALEGTATYRGDIYFCTGYDPPMKPYGRRNEIWLLKT

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; heme binding [GO:0020037]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9ULI3
geneSymbol: HEG1
pdb: 3U7D;4HDQ;
name: Protein HEG homolog 1
length: 1381
go: ENSG00000173706;
snps: rs4404487 rs2981546 rs6790837 rs10804567 rs6438869
sequence:

opentargets:
cell-cell junction [GO:0005911]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; cardiac atrium morphogenesis [GO:0003209]; cardiac muscle tissue growth [GO:0055017]; cell-cell junction assembly [GO:0007043]; endothelial cell morphogenesis [GO:0001886]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; lung development [GO:0030324]; lymph circulation [GO:0003017]; lymph vessel development [GO:0001945]; multicellular organism growth [GO:0035264]; negative regulation of membrane permeability [GO:1905709]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of Rho-dependent protein serine/threonine kinase activity [GO:2000299]; pericardium development [GO:0060039]; positive regulation of fibroblast growth factor production [GO:0090271]; post-embryonic development [GO:0009791]; protein localization to cell junction [GO:1902414]; regulation of body fluid levels [GO:0050878]; vasculogenesis [GO:0001570]; venous blood vessel morphogenesis [GO:0048845]; ventricular septum development [GO:0003281]; ventricular trabecula myocardium morphogenesis [GO:0003222]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULI3-1; Sequence=Displayed; Name=2; IsoId=Q9ULI3-2; Sequence=VSP_025275, VSP_025276; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q1MX18
geneSymbol: INSC
pdb: 3SF4;
name: Protein inscuteable homolog
length: 579
go: ENSG00000188487;
snps: rs17507577 rs7123855
sequence:

opentargets:
cell cortex [GO:0005938]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; protein binding, bridging [GO:0030674]; protein domain specific binding [GO:0019904]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Long; IsoId=Q1MX18-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q1MX18-2; Sequence=VSP_020947; Name=3; IsoId=Q1MX18-3; Sequence=VSP_020946, VSP_020948, VSP_020950; Note=No experimental confirmation available.; Name=4; IsoId=Q1MX18-4; Sequence=VSP_020947, VSP_020950; Note=No experimental confirmation available.; Name=5; IsoId=Q1MX18-5; Sequence=VSP_020947, VSP_020949; Note=No experimental confirmation available.; Name=6; IsoId=Q1MX18-6; Sequence=VSP_020947, VSP_054159; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22074847}. Cytoplasm, cell cortex {ECO:0000269|PubMed:22074847}. Note=Uniformly distributed in the cytoplasm during interphase. During metaphase, detected in the cell cortex, adjacent to the mitotic spindle poles. {ECO:0000269|PubMed:22074847}.


uniprotID: O15503
geneSymbol: INSIG1
reactome: R-HSA-1655829;
pdb: 4J81;
name: Insulin-induced gene 1 protein (INSIG-1)
length: 277
go: ENSG00000186480;
snps: rs1129825
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; SREBP-SCAP-Insig complex [GO:0032937]; cell proliferation [GO:0008283]; cellular response to sterol [GO:0036315]; cholesterol biosynthetic process [GO:0006695]; cholesterol homeostasis [GO:0042632]; cranial suture morphogenesis [GO:0060363]; inner ear morphogenesis [GO:0042472]; middle ear morphogenesis [GO:0042474]; negative regulation of cargo loading into COPII-coated vesicle [GO:1901303]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of protein exit from endoplasmic reticulum [GO:0070862]; negative regulation of steroid biosynthetic process [GO:0010894]; roof of mouth development [GO:0060021]; SREBP signaling pathway [GO:0032933]; SREBP-SCAP complex retention in endoplasmic reticulum [GO:0036316]; triglyceride metabolic process [GO:0006641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15503-1; Sequence=Displayed; Name=2; IsoId=O15503-2; Sequence=VSP_045084, VSP_045085; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12202038}; Multi-pass membrane protein {ECO:0000269|PubMed:12202038}.


uniprotID: Q9NVR2
geneSymbol: INTS10
reactome: R-HSA-6807505;
name: Integrator complex subunit 10 (Int10)
length: 710
go: ENSG00000104613;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16239144, ECO:0000269|PubMed:23904267}.
sequence:

opentargets:
integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]


uniprotID: Q96SY0
geneSymbol: INTS14
reactome: R-HSA-6807505;
name: Integrator complex subunit 14 (von Willebrand factor A domain-containing protein 9)
length: 518
go: ENSG00000138614;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9VPY0}.
sequence:

opentargets:
integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; snRNA 3'-end processing [GO:0034472]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96SY0-1; Sequence=Displayed; Name=2; IsoId=Q96SY0-2; Sequence=VSP_027180, VSP_027181; Note=No experimental confirmation available.; Name=4; IsoId=Q96SY0-4; Sequence=VSP_044250; Name=3; IsoId=Q96SY0-3; Sequence=VSP_043277; Note=No experimental confirmation available.; 


uniprotID: Q68E01
geneSymbol: INTS3
reactome: R-HSA-6807505;
pdb: 4OWT;4OWW;4OWX;
length: 1043
go: ENSG00000143624;
name:
Integrator complex subunit 3 (Int3) (SOSS complex subunit A) (Sensor of single-strand DNA complex subunit A) (SOSS-A) (Sensor of ssDNA subunit A)

sequence:

opentargets:
cytoplasm [GO:0005737]; integrator complex [GO:0032039]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SOSS complex [GO:0070876]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; mitotic cell cycle checkpoint [GO:0007093]; response to ionizing radiation [GO:0010212]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q68E01-1; Sequence=Displayed; Name=2; IsoId=Q68E01-2; Sequence=VSP_021446; Name=3; IsoId=Q68E01-3; Sequence=VSP_038131, VSP_038132; Note=No experimental confirmation available.; Name=4; IsoId=Q68E01-4; Sequence=VSP_038130; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19605351, ECO:0000269|PubMed:19683501, ECO:0000269|PubMed:23904267}. Cytoplasm {ECO:0000269|PubMed:23904267}. Note=Localizes to nuclear foci following DNA damage.


uniprotID: Q5JSJ4
geneSymbol: INTS6L
name: Integrator complex subunit 6-like (Protein DDX26B)
length: 861
go: ENSG00000165359;
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JSJ4-1; Sequence=Displayed; Name=3; IsoId=Q5JSJ4-4; Sequence=VSP_016867; Note=No experimental confirmation available.; 


uniprotID: Q75QN2
geneSymbol: INTS8
reactome: R-HSA-6807505;
name: Integrator complex subunit 8 (Int8) (Protein kaonashi-1)
length: 995
go: ENSG00000164941;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; snRNA 3'-end processing [GO:0034472]; snRNA processing [GO:0016180]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q75QN2-1; Sequence=Displayed; Name=2; IsoId=Q75QN2-2; Sequence=VSP_021469; Note=No experimental confirmation available.; 


uniprotID: P36551
geneSymbol: CPOX
reactome: R-HSA-189451;
pdb: 2AEX;
length: 454
go: ENSG00000080819;
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space.
name:
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (COX) (Coprogen oxidase) (Coproporphyrinogenase) (EC 1.3.3.3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; coproporphyrinogen oxidase activity [GO:0004109]; protein homodimerization activity [GO:0042803]; heme biosynthetic process [GO:0006783]; protoporphyrinogen IX biosynthetic process from glutamate [GO:0019353]

snps:
rs201826432 rs759347283 rs121917872 rs1131857 rs121917874 rs2228056 rs121917870 rs121917873 rs121917866 rs11921054 rs121917868 rs28931603 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P36551-1; Sequence=Displayed; Name=2; IsoId=P36551-2; Sequence=VSP_057182, VSP_057183; Note=No experimental confirmation available.; 


uniprotID: A6NMK8
geneSymbol: INSYN2B
name: Protein INSYN2B (Inhibitory synaptic factor family member 2B)
length: 535
go: ENSG00000204767;
sequence:


uniprotID: P49895
geneSymbol: DIO1
reactome: R-HSA-350864;
name: Type I iodothyronine deiodinase (EC 1.21.99.4) (5DI) (DIOI) (Type 1 DI) (Type-I 5'-deiodinase)
length: 249
go: ENSG00000211452;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; selenium binding [GO:0008430]; thyroxine 5'-deiodinase activity [GO:0004800]; hormone biosynthetic process [GO:0042446]; thyroid hormone generation [GO:0006590]; thyroid hormone metabolic process [GO:0042403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=a; IsoId=P49895-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=P49895-2; Sequence=VSP_012774; Name=3; Synonyms=c/f; IsoId=P49895-3; Sequence=VSP_012777, VSP_012778; Note=The UGA codon in position 83 may either function as a selenocysteine codon or a translation termination codon.; Name=4; Synonyms=d; IsoId=P49895-4; Sequence=VSP_012781; Name=5; Synonyms=e; IsoId=P49895-5; Sequence=VSP_012783, VSP_012784; Name=6; Synonyms=k; IsoId=P49895-6; Sequence=VSP_012772, VSP_012773; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 34 may either function as a selenocysteine codon or a translation termination codon.; Name=7; Synonyms=l; IsoId=P49895-7; Sequence=VSP_012782; Name=8; Synonyms=m; IsoId=P49895-8; Sequence=VSP_012775, VSP_012776; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 59 may either function as a selenocysteine codon or a translation termination codon.; Name=9; Synonyms=s; IsoId=P49895-9; Sequence=VSP_012779, VSP_012780; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. The UGA codon in position 59 may either function as a selenocysteine codon or a translation termination codon.; 


uniprotID: P55073
geneSymbol: DIO3
reactome: R-HSA-350864;
length: 304
go: ENSG00000197406;
name:
Thyroxine 5-deiodinase (EC 1.21.99.3) (5DIII) (DIOIII) (Type 3 DI) (Type III iodothyronine deiodinase)

sequence:

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; thyroxine 5'-deiodinase activity [GO:0004800]; thyroxine 5-deiodinase activity [GO:0033798]; hormone biosynthetic process [GO:0042446]; macromolecule metabolic process [GO:0043170]; negative regulation of eye photoreceptor cell development [GO:0042480]; positive regulation of multicellular organism growth [GO:0040018]; retinal cone cell apoptotic process [GO:0097474]; retinal cone cell development [GO:0046549]; thyroid hormone catabolic process [GO:0042404]; thyroid hormone generation [GO:0006590]; thyroid hormone metabolic process [GO:0042403]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12419801}; Single-pass type II membrane protein {ECO:0000269|PubMed:12419801}. Endosome membrane {ECO:0000269|PubMed:12419801}; Single-pass type II membrane protein {ECO:0000269|PubMed:12419801}.


uniprotID: Q9Y5R4
geneSymbol: HEMK1
name: HemK methyltransferase family member 1 (EC 2.1.1.-) (M.HsaHemKP)
length: 338
go: ENSG00000114735;
snps: rs2232250 rs2232251
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18541145}.
sequence:

opentargets:
mitochondrion [GO:0005739]; DNA binding [GO:0003677]; N-methyltransferase activity [GO:0008170]; protein methyltransferase activity [GO:0008276]; DNA methylation [GO:0006306]


uniprotID: P23677
geneSymbol: ITPKA
reactome: R-HSA-1855204;
pdb: 1W2C;1W2D;1W2F;4UPU;
length: 461
go: ENSG00000137825;
drug: DB04395;
name:
Inositol-trisphosphate 3-kinase A (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase A) (IP3 3-kinase A) (IP3K A) (InsP 3-kinase A)

sequence:

opentargets:
cytosol [GO:0005829]; dendritic spine [GO:0043197]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; inositol-1,4,5-trisphosphate 3-kinase activity [GO:0008440]; Rac GTPase binding [GO:0048365]; actin cytoskeleton organization [GO:0030036]; dendritic spine maintenance [GO:0097062]; inositol metabolic process [GO:0006020]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; positive regulation of dendritic spine morphogenesis [GO:0061003]; regulation of synaptic plasticity [GO:0048167]; signal transduction [GO:0007165]


uniprotID: P27987
geneSymbol: ITPKB
reactome: R-HSA-1855204;
length: 946
go: ENSG00000143772;
snps: rs3754413 rs6667260 rs708776
name:
Inositol-trisphosphate 3-kinase B (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase B) (IP3 3-kinase B) (IP3K B) (InsP 3-kinase B)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; inositol-1,4,5-trisphosphate 3-kinase activity [GO:0008440]; cell surface receptor signaling pathway [GO:0007166]; cellular response to calcium ion [GO:0071277]; common myeloid progenitor cell proliferation [GO:0035726]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; inositol trisphosphate metabolic process [GO:0032957]; MAPK cascade [GO:0000165]; myeloid cell homeostasis [GO:0002262]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of neutrophil apoptotic process [GO:0033030]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of Ras protein signal transduction [GO:0046579]; positive thymic T cell selection [GO:0045059]; regulation of protein phosphorylation [GO:0001932]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P27987-1; Sequence=Displayed; Name=2; IsoId=P27987-2; Sequence=VSP_016092; Note=No experimental confirmation available.; 


uniprotID: P02790
geneSymbol: HPX
reactome: R-HSA-2168880;
name: Hemopexin (Beta-1B-glycoprotein)
length: 462
go: ENSG00000110169;
snps: rs10839564 rs12117
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; heme transporter activity [GO:0015232]; metal ion binding [GO:0046872]; cellular iron ion homeostasis [GO:0006879]; heme metabolic process [GO:0042168]; heme transport [GO:0015886]; hemoglobin metabolic process [GO:0020027]; positive regulation of humoral immune response mediated by circulating immunoglobulin [GO:0002925]; positive regulation of immunoglobulin production [GO:0002639]; positive regulation of interferon-gamma-mediated signaling pathway [GO:0060335]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; proteolysis [GO:0006508]; receptor-mediated endocytosis [GO:0006898]; viral process [GO:0016032]


uniprotID: P05981
geneSymbol: HPN
reactome: R-HSA-6806942;R-HSA-8852405;
pdb: 1O5E;1O5F;1P57;1Z8G;3T2N;5CE1;
length: 417
go: ENSG00000105707;
drug: DB03865;DB00522;DB03297;DB00036;DB03643;
name:
Serine protease hepsin (EC 3.4.21.106) (Transmembrane protease serine 1) [Cleaved into: Serine protease hepsin non-catalytic chain; Serine protease hepsin catalytic chain]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cell-cell junction [GO:0005911]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; calcium-activated potassium channel activity [GO:0015269]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type exopeptidase activity [GO:0070008]; serine-type peptidase activity [GO:0008236]; basement membrane disassembly [GO:0034769]; cochlea morphogenesis [GO:0090103]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; negative regulation of apoptotic process [GO:0043066]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; pilomotor reflex [GO:0097195]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of cell growth [GO:0030307]; positive regulation of gene expression [GO:0010628]; positive regulation of hepatocyte proliferation [GO:2000347]; positive regulation of plasminogen activation [GO:0010756]; positive regulation of thyroid hormone generation [GO:2000611]; potassium ion transmembrane transport [GO:0071805]; proteolysis [GO:0006508]; regulation of cell shape [GO:0008360]; response to thyroid hormone [GO:0097066]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1885621}; Single-pass type II membrane protein {ECO:0000269|PubMed:1885621}. Apical cell membrane {ECO:0000269|PubMed:26673890}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q9BYE0
geneSymbol: HES7
length: 225
go: ENSG00000179111;
snps: rs113994160 rs387906979 rs387906978
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription factor HES-7 (hHes7) (Class B basic helix-loop-helix protein 37) (bHLHb37) (Hairy and enhancer of split 7) (bHLH factor Hes7)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; mesoderm development [GO:0007498]; Notch signaling pathway [GO:0007219]; post-anal tail morphogenesis [GO:0036342]; regulation of neurogenesis [GO:0050767]; regulation of somitogenesis [GO:0014807]; rhythmic process [GO:0048511]; skeletal system development [GO:0001501]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYE0-1; Sequence=Displayed; Name=2; IsoId=Q9BYE0-2; Sequence=VSP_047334; 


uniprotID: Q9UBX0
geneSymbol: HESX1
pdb: 2K40;
name: Homeobox expressed in ES cells 1 (Homeobox protein ANF) (hAnf)
length: 185
go: ENSG00000163666;
snps: rs121909173 rs28936416 rs768165720 rs9878928 rs104893742 rs28936702 rs28936703 rs28936704
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26781211}.
sequence:
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRRAKLKRSHRESQFLMAKKNFNTNLLE

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; brain development [GO:0007420]; pituitary gland development [GO:0021983]


uniprotID: P06865
geneSymbol: HEXA
reactome: R-HSA-1660662;R-HSA-2022857;R-HSA-2024101;R-HSA-2160916;R-HSA-3656234;
pdb: 1QBC;2GJX;2GK1;
length: 529
go: ENSG00000213614;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Beta-hexosaminidase subunit alpha (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit alpha) (Hexosaminidase subunit A) (N-acetyl-beta-glucosaminidase subunit alpha)

sequence:

opentargets:
azurophil granule [GO:0042582]; extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; membrane [GO:0016020]; acetylglucosaminyltransferase activity [GO:0008375]; beta-N-acetylhexosaminidase activity [GO:0004563]; N-acetyl-beta-D-galactosaminidase activity [GO:0102148]; protein heterodimerization activity [GO:0046982]; carbohydrate metabolic process [GO:0005975]; chondroitin sulfate catabolic process [GO:0030207]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosphingolipid metabolic process [GO:0006687]; hyaluronan catabolic process [GO:0030214]; keratan sulfate catabolic process [GO:0042340]

snps:
rs121907979 rs748190164 rs121907975 rs121907957 rs121907972 rs121907953 rs28941770 rs28941770 rs28941771 rs387906310 rs753862880 rs121907973 rs1800429 rs121907976 rs121907961 rs121907974 rs769866128 rs121907970 rs138058578 rs121907959 rs1057521137 rs762255098 rs121907971 rs121907954 rs1054374 rs199578185 rs121907977 rs772180415 rs772180415 rs370266293 rs1800430 rs121907958 rs1800431 rs121907978 rs863225434 rs121907981 rs1057519467 rs121907952 rs121907968 rs121907966 rs121907956 rs28942071 rs121907955 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06865-1; Sequence=Displayed; Name=2; IsoId=P06865-2; Sequence=VSP_056657, VSP_056658, VSP_056659; Note=No experimental confirmation available.; 


uniprotID: Q14469
geneSymbol: HES1
pdb: 2MH3;
length: 280
go: ENSG00000114315;
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-210744;R-HSA-2122947;R-HSA-2197563;R-HSA-2644606;R-HSA-2894862;R-HSA-8940973;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

name:
Transcription factor HES-1 (Class B basic helix-loop-helix protein 39) (bHLHb39) (Hairy and enhancer of split 1) (Hairy homolog) (Hairy-like protein) (hHL)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; histone deacetylase binding [GO:0042826]; N-box binding [GO:0071820]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; adenohypophysis development [GO:0021984]; artery morphogenesis [GO:0048844]; ascending aorta morphogenesis [GO:0035910]; auditory receptor cell fate determination [GO:0042668]; cardiac neural crest cell development involved in outflow tract morphogenesis [GO:0061309]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell maturation [GO:0048469]; cell migration [GO:0016477]; cell morphogenesis involved in neuron differentiation [GO:0048667]; cochlea development [GO:0090102]; comma-shaped body morphogenesis [GO:0072049]; common bile duct development [GO:0061009]; embryonic heart tube morphogenesis [GO:0003143]; establishment of epithelial cell polarity [GO:0090162]; forebrain radial glial cell differentiation [GO:0021861]; glomerulus vasculature development [GO:0072012]; hindbrain morphogenesis [GO:0021575]; inner ear receptor cell stereocilium organization [GO:0060122]; labyrinthine layer blood vessel development [GO:0060716]; lateral inhibition [GO:0046331]; liver development [GO:0001889]; lung development [GO:0030324]; metanephric nephron tubule morphogenesis [GO:0072282]; midbrain development [GO:0030901]; midbrain-hindbrain boundary morphogenesis [GO:0021555]; negative regulation of forebrain neuron differentiation [GO:2000978]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of inner ear auditory receptor cell differentiation [GO:0045608]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of pancreatic A cell differentiation [GO:2000227]; negative regulation of pro-B cell differentiation [GO:2000974]; negative regulation of stem cell differentiation [GO:2000737]; negative regulation of stomach neuroendocrine cell differentiation [GO:0061106]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; neuronal stem cell population maintenance [GO:0097150]; Notch signaling pathway [GO:0007219]; oculomotor nerve development [GO:0021557]; outflow tract morphogenesis [GO:0003151]; pancreas development [GO:0031016]; pharyngeal arch artery morphogenesis [GO:0061626]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA binding [GO:0043388]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of mitotic cell cycle, embryonic [GO:0045977]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein-containing complex assembly [GO:0065003]; regulation of epithelial cell proliferation [GO:0050678]; regulation of fat cell differentiation [GO:0045598]; regulation of JAK-STAT cascade [GO:0046425]; regulation of neurogenesis [GO:0050767]; regulation of secondary heart field cardioblast proliferation [GO:0003266]; regulation of timing of neuron differentiation [GO:0060164]; renal interstitial fibroblast development [GO:0072141]; S-shaped body morphogenesis [GO:0072050]; smoothened signaling pathway [GO:0007224]; somatic stem cell population maintenance [GO:0035019]; somitogenesis [GO:0001756]; telencephalon development [GO:0021537]; thymus development [GO:0048538]; trochlear nerve development [GO:0021558]; ureteric bud morphogenesis [GO:0060675]; vascular smooth muscle cell development [GO:0097084]; ventricular septum development [GO:0003281]; ventricular septum morphogenesis [GO:0060412]


uniprotID: Q9UBP5
geneSymbol: HEY2
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-8940973;R-HSA-9013508;R-HSA-9013695;
length: 337
go: ENSG00000135547;
snps: rs747221103 rs3734638
name:
Hairy/enhancer-of-split related with YRPW motif protein 2 (Cardiovascular helix-loop-helix factor 1) (hCHF1) (Class B basic helix-loop-helix protein 32) (bHLHb32) (HES-related repressor protein 2) (Hairy and enhancer of split-related protein 2) (HESR-2) (Hairy-related transcription factor 2) (HRT-2) (hHRT2) (Protein gridlock homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; microsatellite binding [GO:0035939]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription factor binding [GO:0008134]; anterior/posterior axis specification [GO:0009948]; arterial endothelial cell differentiation [GO:0060842]; ascending aorta morphogenesis [GO:0035910]; atrial septum morphogenesis [GO:0060413]; blood vessel development [GO:0001568]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac left ventricle morphogenesis [GO:0003214]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cardiac right ventricle morphogenesis [GO:0003215]; cardiac septum morphogenesis [GO:0060411]; cardiac vascular smooth muscle cell development [GO:0060948]; cardiac ventricle morphogenesis [GO:0003208]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; cochlea development [GO:0090102]; coronary vasculature morphogenesis [GO:0060977]; dorsal aorta morphogenesis [GO:0035912]; endocardial cushion to mesenchymal transition involved in heart valve formation [GO:0003199]; heart development [GO:0007507]; heart trabecula formation [GO:0060347]; labyrinthine layer blood vessel development [GO:0060716]; mesenchymal cell development [GO:0014031]; muscular septum morphogenesis [GO:0003150]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cardiac vascular smooth muscle cell differentiation [GO:2000723]; negative regulation of gene expression [GO:0010629]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription by transcription factor localization [GO:0010621]; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation [GO:2000820]; negative regulation of transcription initiation from RNA polymerase II promoter [GO:0060633]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; outflow tract morphogenesis [GO:0003151]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of heart rate [GO:0010460]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein-DNA complex assembly [GO:0065004]; pulmonary artery morphogenesis [GO:0061156]; pulmonary valve morphogenesis [GO:0003184]; regulation of inner ear auditory receptor cell differentiation [GO:0045607]; regulation of neurogenesis [GO:0050767]; regulation of vasculogenesis [GO:2001212]; smooth muscle cell differentiation [GO:0051145]; tricuspid valve formation [GO:0003195]; tricuspid valve morphogenesis [GO:0003186]; umbilical cord morphogenesis [GO:0036304]; vascular smooth muscle cell development [GO:0097084]; vasculogenesis [GO:0001570]; ventricular cardiac muscle cell development [GO:0055015]; ventricular septum morphogenesis [GO:0060412]; ventricular trabecula myocardium morphogenesis [GO:0003222]


uniprotID: Q9NQ87
geneSymbol: HEYL
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-9013508;
length: 328
go: ENSG00000163909;
snps: rs784625
name:
Hairy/enhancer-of-split related with YRPW motif-like protein (hHeyL) (Class B basic helix-loop-helix protein 33) (bHLHb33) (Hairy-related transcription factor 3) (HRT-3) (hHRT3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; AF-1 domain binding [GO:0050683]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; microsatellite binding [GO:0035939]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription factor binding [GO:0008134]; atrioventricular valve morphogenesis [GO:0003181]; blood vessel development [GO:0001568]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac ventricle morphogenesis [GO:0003208]; cell differentiation [GO:0030154]; cellular response to BMP stimulus [GO:0071773]; endocardial cushion morphogenesis [GO:0003203]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; glomerulus development [GO:0032835]; heart development [GO:0007507]; mesenchymal cell development [GO:0014031]; negative regulation of androgen receptor activity [GO:2000824]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; outflow tract morphogenesis [GO:0003151]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of Notch receptor target [GO:0007221]; proximal tubule development [GO:0072014]; pulmonary valve morphogenesis [GO:0003184]; regulation of neurogenesis [GO:0050767]; skeletal muscle cell differentiation [GO:0035914]; ventricular septum morphogenesis [GO:0060412]


uniprotID: Q5TA89
geneSymbol: HES5
reactome: R-HSA-2122947;R-HSA-2197563;R-HSA-2644606;R-HSA-2894862;R-HSA-9013508;R-HSA-9013695;
length: 166
go: ENSG00000197921;
name:
Transcription factor HES-5 (Class B basic helix-loop-helix protein 38) (bHLHb38) (Hairy and enhancer of split 5)

sequence:
MAPSTVAVELLSPKEKNRLRKPVVEKMRRDRINSSIEQLKLLLEQEFARHQPNSKLEKADILEMAVSYLKHSKAFVAAAGPKSLHQDYSEGYSWCLQEAVQFLTLHAASDTQMKLLYHFQRPPAAPAAPAKEPKAPGAAPPPALSAKATAAAAAAHQPACGLWRPW

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; astrocyte differentiation [GO:0048708]; auditory receptor cell fate determination [GO:0042668]; brain development [GO:0007420]; camera-type eye development [GO:0043010]; cartilage development [GO:0051216]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell maturation [GO:0048469]; central nervous system myelination [GO:0022010]; comma-shaped body morphogenesis [GO:0072049]; establishment of epithelial cell polarity [GO:0090162]; forebrain radial glial cell differentiation [GO:0021861]; glial cell fate commitment [GO:0021781]; inner ear auditory receptor cell differentiation [GO:0042491]; inner ear receptor cell stereocilium organization [GO:0060122]; metanephric nephron tubule morphogenesis [GO:0072282]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of forebrain neuron differentiation [GO:2000978]; negative regulation of inner ear receptor cell differentiation [GO:2000981]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of pro-B cell differentiation [GO:2000974]; negative regulation of stem cell differentiation [GO:2000737]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural tube development [GO:0021915]; neuronal stem cell population maintenance [GO:0097150]; Notch signaling pathway [GO:0007219]; oligodendrocyte development [GO:0014003]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cell proliferation [GO:0008284]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein-containing complex assembly [GO:0065003]; regulation of cell differentiation [GO:0045595]; regulation of epithelial cell proliferation [GO:0050678]; regulation of inner ear auditory receptor cell differentiation [GO:0045607]; regulation of myelination [GO:0031641]; regulation of neurogenesis [GO:0050767]; S-shaped body morphogenesis [GO:0072050]; smoothened signaling pathway [GO:0007224]; somitogenesis [GO:0001756]; specification of loop of Henle identity [GO:0072086]; telencephalon development [GO:0021537]


uniprotID: O94829
geneSymbol: IPO13
pdb: 2X19;2XWU;3ZJY;
name: Importin-13 (Imp13) (Karyopherin-13) (Kap13) (Ran-binding protein 13) (RanBP13)
length: 963
go: ENSG00000117408;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; nuclear localization sequence binding [GO:0008139]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; protein import into nucleus [GO:0006606]


uniprotID: O15397
geneSymbol: IPO8
reactome: R-HSA-5578749;
name: Importin-8 (Imp8) (Ran-binding protein 8) (RanBP8)
length: 1037
go: ENSG00000133704;
snps: rs1054423 rs34119940
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; protein import into nucleus [GO:0006606]; regulation of gene silencing by miRNA [GO:0060964]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15397-1; Sequence=Displayed; Name=2; IsoId=O15397-2; Sequence=VSP_042574; Note=No experimental confirmation available.; 


uniprotID: Q6NXS1
geneSymbol: PPP1R2B
length: 205
go: ENSG00000231989;
name:
Protein phosphatase inhibitor 2 family member B (PPP1R2 family member B) (Protein phosphatase 1, regulatory subunit 2 pseudogene 3) (Protein phosphatase inhibitor 2-like protein 3)

sequence:

opentargets:
protein phosphatase inhibitor activity [GO:0004864]; glycogen metabolic process [GO:0005977]; regulation of phosphoprotein phosphatase activity [GO:0043666]; regulation of signal transduction [GO:0009966]


uniprotID: P04233
geneSymbol: CD74
reactome: R-HSA-202733;R-HSA-2132295;
pdb: 1A6A;1ICF;1IIE;1L3H;1MUJ;3PDO;3PGC;3PGD;3QXA;3QXD;4AEN;4AH2;4X5W;5KSU;5KSV;
length: 296
go: ENSG00000019582;
name:
HLA class II histocompatibility antigen gamma chain (HLA-DR antigens-associated invariant chain) (Ia antigen-associated invariant chain) (Ii) (p33) (CD antigen CD74)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; macrophage migration inhibitory factor receptor complex [GO:0035692]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; multivesicular body [GO:0005771]; NOS2-CD74 complex [GO:0035693]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; vacuole [GO:0005773]; amyloid-beta binding [GO:0001540]; CD4 receptor binding [GO:0042609]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; identical protein binding [GO:0042802]; macrophage migration inhibitory factor binding [GO:0035718]; MHC class II protein binding [GO:0042289]; MHC class II protein binding, via antigen binding groove [GO:0042658]; MHC class II protein complex binding [GO:0023026]; nitric-oxide synthase binding [GO:0050998]; protein binding involved in protein folding [GO:0044183]; activation of MAPK activity [GO:0000187]; antigen processing and presentation of endogenous antigen [GO:0019883]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell proliferation [GO:0008283]; chaperone cofactor-dependent protein refolding [GO:0051085]; defense response [GO:0006952]; immunoglobulin mediated immune response [GO:0016064]; intracellular protein transport [GO:0006886]; leukocyte migration [GO:0050900]; macrophage migration inhibitory factor signaling pathway [GO:0035691]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of mature B cell apoptotic process [GO:0002906]; negative regulation of peptide secretion [GO:0002792]; negative regulation of T cell differentiation [GO:0045581]; negative thymic T cell selection [GO:0045060]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000343]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of kinase activity [GO:0033674]; positive regulation of macrophage cytokine production [GO:0060907]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type 2 immune response [GO:0002830]; positive regulation of viral entry into host cell [GO:0046598]; positive thymic T cell selection [GO:0045059]; prostaglandin biosynthetic process [GO:0001516]; protein heterotetramerization [GO:0051290]; protein trimerization [GO:0070206]; protein-containing complex assembly [GO:0065003]; regulation of macrophage activation [GO:0043030]; signal transduction [GO:0007165]; T cell selection [GO:0045058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P04233-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P04233-2; Sequence=VSP_005331; Name=3; IsoId=P04233-3; Sequence=VSP_037869, VSP_037870; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Endoplasmic reticulum membrane. Golgi apparatus, trans-Golgi network. Endosome. Lysosome. Note=Transits through a number of intracellular compartments in the endocytic pathway. It can either undergo proteolysis or reach the cell membrane.


uniprotID: B2RPK0
geneSymbol: HMGB1P1
length: 211
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}. Chromosome {ECO:0000250}.
name:
Putative high mobility group protein B1-like 1 (High mobility group protein B1 pseudogene 1) (Putative high mobility group protein 1-like 1) (HMG-1L1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; DNA binding, bending [GO:0008301]; transcription factor binding [GO:0008134]; activation of innate immune response [GO:0002218]; cell chemotaxis [GO:0060326]; chromatin remodeling [GO:0006338]; developmental process [GO:0032502]; DNA recombination [GO:0006310]; positive regulation of autophagy [GO:0010508]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of innate immune response [GO:0045089]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-1 secretion [GO:0050716]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of signaling receptor activity [GO:0010469]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q93099
geneSymbol: HGD
reactome: R-HSA-71182;
pdb: 1EY2;1EYB;
length: 445
go: ENSG00000113924;
name:
Homogentisate 1,2-dioxygenase (EC 1.13.11.5) (Homogentisate oxygenase) (Homogentisic acid oxidase) (Homogentisicase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; homogentisate 1,2-dioxygenase activity [GO:0004411]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; cellular amino acid metabolic process [GO:0006520]; L-phenylalanine catabolic process [GO:0006559]; tyrosine catabolic process [GO:0006572]

snps:
rs200412910 rs373921680 rs1049246177 rs200808744 rs1324654414 rs2255543 rs755734596 rs569846003 rs752153829 rs149165166 rs544956641 rs374473331 rs564979861 rs775274569 rs375396766 rs28941783 rs780173554 rs375283568 rs756134838 rs767201131 rs562853291 rs562853291 rs28942100 rs759843592 rs756522409 rs120074174 rs754428438 rs120074170 rs120074171 rs764037565 rs368717991 rs765219004 rs120074173 rs765912447 rs120074172 rs138558042 rs981454067 rs767159114 


uniprotID: Q4KMZ1
geneSymbol: IQCC
name: IQ domain-containing protein C
length: 466
go: ENSG00000160051;
snps: rs3903683 rs12032332 rs41306593
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4KMZ1-1; Sequence=Displayed; Name=2; IsoId=Q4KMZ1-2; Sequence=VSP_024176; Note=No experimental confirmation available.; Name=3; IsoId=Q4KMZ1-3; Sequence=VSP_046123; Note=No experimental confirmation available.; 


uniprotID: Q6IPM2
geneSymbol: IQCE
reactome: R-HSA-5635838;
name: IQ domain-containing protein E
length: 695
go: ENSG00000106012;
opentargets: ciliary membrane [GO:0060170]; cilium [GO:0005929]
snps: rs11976972 rs2293404 rs10950797 rs2293407 rs3735109 rs1061566
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6IPM2-1; Sequence=Displayed; Name=2; IsoId=Q6IPM2-2; Sequence=VSP_024433; Name=3; IsoId=Q6IPM2-3; Sequence=VSP_024435; Name=4; IsoId=Q6IPM2-4; Sequence=VSP_024434; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q6PCQ0}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q6PCQ0}; Cytoplasmic side {ECO:0000250|UniProtKB:Q6PCQ0}. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:Q6PCQ0}.


uniprotID: Q8N6M8
geneSymbol: IQCF1
name: IQ domain-containing protein F1
length: 205
go: ENSG00000173389;
snps: rs17852683 rs11927897
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; calmodulin binding [GO:0005516]; positive regulation of acrosome reaction [GO:2000344]; positive regulation of flagellated sperm motility involved in capacitation [GO:0060474]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6M8-1; Sequence=Displayed; Name=2; IsoId=Q8N6M8-2; Sequence=VSP_024184, VSP_024185; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:25380116}.


uniprotID: Q8IXL9
geneSymbol: IQCF2
name: IQ domain-containing protein F2
length: 164
go: ENSG00000184345;
opentargets: calmodulin binding [GO:0005516]
sequence:
MRVRFCTKGNLILVIIEDVEESIEWKTLQKKKQQKIKEKLRIRTKAAVKIQAWWRGTLVRRTLLHAALRAWIIQCWWRMTLSRVLEKKRQAALIAYATRERAVIKLQSLVRMWRVRWRYCQVLNAIYIIQGHWQCHNCQTCALLQGHCVVTATHLQFHIEIINS


uniprotID: P0C7M6
geneSymbol: IQCF3
name: IQ domain-containing protein F3
length: 154
go: ENSG00000229972;
opentargets: calmodulin binding [GO:0005516]
sequence:
MGSKCCKGGPDEDAVERQRRQKLLLAQLHHRKRVKAAGQIQAWWRGVLVRRTLLVAALRAWMIQCWWRTLVQRRIRQRRQALLRVYVIQEQATVKLQSCIRMWQCRQCYRQMCNALCLFQVPESSLAFQTDGFLQVQYAIPSKQPEFHIEILSI


uniprotID: A8MTL0
geneSymbol: IQCF5
name: IQ domain-containing protein F5
length: 148
go: ENSG00000214681;
opentargets: calmodulin binding [GO:0005516]
sequence:
MGPEEKTIMTERSAAVFIQAWWRGMLVRRTLLHAALRAWIIQCWWRQVLEKLLAKRRRMVLEFYVQQEWAAVRLQSWVRMWCVRQRYCRLLNAVRIIQVYWRWHSCHSRVFIEGHYELKENQLNIQLEISLGLQACKVQQCIPLPLKE


uniprotID: A8MYZ5
geneSymbol: IQCF6
name: IQ domain-containing protein F6
length: 107
go: ENSG00000214686;
opentargets: calmodulin binding [GO:0005516]
sequence:
MVRRTLLQAALRAWVIQCWWRSMQAKMLEQRRRLALRLYTCQEWAVVKVQAQVRMWQARRRFLQARQAACIIQSHWRWHASQTRGLIRGHYEVRASRLELDIEILMT


uniprotID: Q86VS3
geneSymbol: IQCH
name: IQ domain-containing protein H (Testis development protein NYD-SP5)
length: 1027
go: ENSG00000103599;
snps: rs3985641
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86VS3-1; Sequence=Displayed; Name=2; IsoId=Q86VS3-2; Sequence=VSP_024188, VSP_024194; Note=No experimental confirmation available.; Name=3; IsoId=Q86VS3-3; Sequence=VSP_024190, VSP_024192, VSP_024193; Note=No experimental confirmation available.; Name=4; IsoId=Q86VS3-4; Sequence=VSP_024189, VSP_024191, VSP_024194, VSP_024195, VSP_024196; Note=No experimental confirmation available.; Name=5; IsoId=Q86VS3-5; Sequence=VSP_045251, VSP_045252; Note=No experimental confirmation available.; 


uniprotID: Q9H0B3
geneSymbol: IQCN
name: IQ domain-containing protein N
length: 1180
go: ENSG00000130518;
opentargets: mitochondrion [GO:0005739]; nucleus [GO:0005634]
sequence:

snps:
rs1469023 rs3810431 rs12609001 rs8103906 rs8104533 rs3746186 rs12462974 rs2277922 rs16982285 rs8110972 rs12608777 rs2277921 rs999813 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H0B3-1; Sequence=Displayed; Name=2; IsoId=Q9H0B3-2; Sequence=VSP_015474, VSP_015476; Name=3; IsoId=Q9H0B3-3; Sequence=VSP_015473, VSP_015475; Name=4; IsoId=Q9H0B3-4; Sequence=VSP_045714; Note=No experimental confirmation available.; Name=5; IsoId=Q9H0B3-5; Sequence=VSP_045713; Note=No experimental confirmation available.; 


uniprotID: Q5JU85
geneSymbol: IQSEC2
pdb: 6FAE;
name: IQ motif and SEC7 domain-containing protein 2
length: 1488
go: ENSG00000124313;
snps: rs267607188 rs267607189 rs875989799 rs267607187 rs267607186
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; Schaffer collateral - CA1 synapse [GO:0098685]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; actin cytoskeleton organization [GO:0030036]; modulation of chemical synaptic transmission [GO:0050804]; regulation of ARF protein signal transduction [GO:0032012]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JU85-2; Sequence=Displayed; Name=2; IsoId=Q5JU85-3; Sequence=VSP_041372, VSP_041373, VSP_041374; Name=3; IsoId=Q5JU85-4; Sequence=VSP_059605, VSP_059606; 


uniprotID: Q9UPP2
geneSymbol: IQSEC3
name: IQ motif and SEC7 domain-containing protein 3
length: 1182
go: ENSG00000120645;
snps: rs56204927
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; GABA-ergic synapse [GO:0098982]; glycinergic synapse [GO:0098690]; inhibitory synapse [GO:0060077]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; postsynaptic specialization of symmetric synapse [GO:0099629]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; actin cytoskeleton organization [GO:0030036]; regulation of ARF protein signal transduction [GO:0032012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPP2-1; Sequence=Displayed; Name=2; IsoId=Q9UPP2-2; Sequence=VSP_035695, VSP_035696, VSP_035697; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17981261}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q3TES0}.


uniprotID: P06899
geneSymbol: HIST1H2BJ
name: Histone H2B type 1-J (Histone H2B.1) (Histone H2B.r) (H2B/r)
length: 126
go: ENSG00000124635;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
pdb:
2RVQ;3A6N;3AFA;3AN2;3AV1;3AV2;3AYW;3AZE;3AZF;3AZG;3AZH;3AZI;3AZJ;3AZK;3AZL;3AZM;3AZN;3W96;3W97;3W98;3W99;3WA9;3WAA;3WTP;4CAY;4YM5;4YM6;4Z5T;5AV5;5AV6;5AV8;5AV9;5AVB;5AVC;5AY8;5B0Y;5B0Z;5B24;5B2I;5B2J;5B31;5B32;5B33;5B40;5CPI;5CPJ;5CPK;5FUG;5GSE;5GTC;5GXQ;5JRG;5VEY;5X7X;5XF3;5XF4;5XF5;5Y0C;5Y0D;5Z30;6BUZ;6ETX;

sequence:
MPEPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSIYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSAK

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; lipopolysaccharide binding [GO:0001530]; protein heterodimerization activity [GO:0046982]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response in mucosa [GO:0002227]; killing of cells of other organism [GO:0031640]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: Q99880
geneSymbol: HIST1H2BL
name: Histone H2B type 1-L (Histone H2B.c) (H2B/c)
length: 126
go: ENSG00000185130;
snps: rs200484
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPELAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIASEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK


uniprotID: Q7Z2G1
geneSymbol: H2BFWT
name: Histone H2B type W-T (H2B histone family member W testis-specific)
length: 175
snps: rs17332043 rs553509
sequence:
MLRTEVPRLPRSTTAIVWSCHLMATASAMAGPSSETTSEEQLITQEPKEANSTTSQKQSKQRKRGRHGPRRCHSNCRGDSFATYFRRVLKQVHQGLSLSREAVSVMDSLVHDILDRIATEAGRLARSTKRQTITAWETRMAVRLLLPGQMGKLAESEGTKAVLRTSLYAIQQQRK

opentargets:
nuclear membrane [GO:0031965]; nucleosome [GO:0000786]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:15475252}. Chromosome {ECO:0000269|PubMed:15475252}.


uniprotID: Q71DI3
geneSymbol: HIST2H3A; HIST2H3C; HIST2H3D
name: Histone H3.2 (Histone H3/m) (Histone H3/o)
length: 136
go: ENSG00000183598;ENSG00000203811;
snps: rs2664732 rs2664731
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1266695;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-3214815;R-HSA-3214841;R-HSA-3214842;R-HSA-3214847;R-HSA-3214858;R-HSA-3247509;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;R-HSA-983231;

pdb:
2IIJ;2X4W;2X4X;2X4Y;3AV1;3DB3;3MO8;3QO2;3R93;4MZF;4MZG;4MZH;4OUC;5B0Y;5B0Z;5B40;5BO0;5CIU;5VAC;6FML;

sequence:
MARTKQTARKSTGGKAPRKQLATKAARKSAPATGGVKKPHRYRPGTVALREIRRYQKSTELLIRKLPFQRLVREIAQDFKTDLRFQSSAVMALQEASEAYLVGLFEDTNLCAIHAKRVTIMPKDIQLARRIRGERA

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; chromatin organization [GO:0006325]; chromatin silencing at rDNA [GO:0000183]; interleukin-7-mediated signaling pathway [GO:0038111]; negative regulation of gene expression, epigenetic [GO:0045814]; nucleosome assembly [GO:0006334]; regulation of gene silencing by miRNA [GO:0060964]; regulation of megakaryocyte differentiation [GO:0045652]


uniprotID: P84243
geneSymbol: H3F3A; H3F3B
name: Histone H3.3
length: 136
go: ENSG00000132475;ENSG00000163041;
snps: rs1057519903
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;R-HSA-983231;

pdb:
2L43;3ASK;3ASL;3AV2;3JVK;3MUK;3MUL;3QL9;3QLA;3QLC;3WTP;4GNE;4GNF;4GNG;4GU0;4GUR;4GUS;4GY5;4H9N;4H9O;4H9P;4H9Q;4H9R;4H9S;4HGA;4L58;4N4I;4O62;4QQ4;4TMP;4U7T;4W5A;5B32;5B33;5BNV;5BNX;5DWQ;5DX0;5JA4;5JJY;5JLB;5KDM;5X7X;6HBO;

sequence:
MARTKQTARKSTGGKAPRKQLATKAARKSAPSTGGVKKPHRYRPGTVALREIRRYQKSTELLIRKLPFQRLVREIAQDFKTDLRFQSAAIGALQEASEAYLVGLFEDTNLCAIHAKRVTIMPKDIQLARRIRGERA

opentargets:
Barr body [GO:0001740]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nuclear chromosome [GO:0000228]; nuclear chromosome, telomeric region [GO:0000784]; nuclear nucleosome [GO:0000788]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; blood coagulation [GO:0007596]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; chromatin silencing at rDNA [GO:0000183]; DNA replication-independent nucleosome assembly [GO:0006336]; embryo implantation [GO:0007566]; male gonad development [GO:0008584]; multicellular organism growth [GO:0035264]; muscle cell differentiation [GO:0042692]; negative regulation of chromosome condensation [GO:1902340]; negative regulation of gene expression, epigenetic [GO:0045814]; nucleosome assembly [GO:0006334]; nucleus organization [GO:0006997]; oogenesis [GO:0048477]; osteoblast differentiation [GO:0001649]; pericentric heterochromatin assembly [GO:0031508]; positive regulation of cell growth [GO:0030307]; regulation of centromere complex assembly [GO:0090230]; regulation of gene silencing by miRNA [GO:0060964]; regulation of megakaryocyte differentiation [GO:0045652]; response to hormone [GO:0009725]; single fertilization [GO:0007338]; spermatid development [GO:0007286]; telomere organization [GO:0032200]; telomeric heterochromatin assembly [GO:0031509]


uniprotID: Q6NXT2
geneSymbol: H3F3C
pdb: 3KV4;4Z5T;5BWN;5BWO;5F6K;5I3L;
name: Histone H3.3C (Histone H3.5)
length: 135
go: ENSG00000188375;
snps: rs3759295
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MARTKQTARKSTGGKAPRKQLATKAARKSTPSTCGVKPHRYRPGTVALREIRRYQKSTELLIRKLPFQRLVREIAQDFNTDLRFQSAAVGALQEASEAYLVGLLEDTNLCAIHAKRVTIMPKDIQLARRIRGERA

opentargets:
nuclear euchromatin [GO:0005719]; nucleosome [GO:0000786]; nucleus [GO:0005634]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]; positive regulation of cell growth [GO:0030307]


uniprotID: P0DPK5
name: Putative histone H3.X
length: 147
sequence:
MARTKQTARKATAWQAPRKPLATKAARKRASPTGGIKKPHRYKPGTLALREIRKYQKSTQLLLRKLPFQRLVREIAQAISPDLRFQSAAIGALQEASEAYLVQLFEDTNLCAIHARRVTIMPRDMQLARRLRGEGAGEPTLLGNLAL

opentargets:
nuclear nucleosome [GO:0000788]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20819935}. Chromosome {ECO:0000305|PubMed:20819935}.


uniprotID: P52292
geneSymbol: KPNA2
reactome: R-HSA-1169408;R-HSA-168276;R-HSA-5693548;R-HSA-9018519;
pdb: 1EFX;1QGK;1QGR;3FEX;3FEY;3WPT;4E4V;4WV6;5H43;
name: Importin subunit alpha-1 (Karyopherin subunit alpha-2) (RAG cohort protein 1) (SRP1-alpha)
length: 529
go: ENSG00000182481;
snps: rs17850032 rs11545989 rs1059558 rs17850031
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7604027}. Nucleus {ECO:0000269|PubMed:7604027}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of postsynaptic specialization membrane [GO:0098892]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; histone deacetylase binding [GO:0042826]; nuclear import signal receptor activity [GO:0061608]; nuclear localization sequence binding [GO:0008139]; protein transporter activity [GO:0008565]; RNA binding [GO:0003723]; DNA metabolic process [GO:0006259]; modulation by virus of host process [GO:0019054]; NLS-bearing protein import into nucleus [GO:0006607]; postsynapse to nucleus signaling pathway [GO:0099527]; regulation of DNA recombination [GO:0000018]


uniprotID: O00505
geneSymbol: KPNA3
reactome: R-HSA-1169408;R-HSA-168276;
name: Importin subunit alpha-4 (Importin alpha Q2) (Qip2) (Karyopherin subunit alpha-3) (SRP1-gamma)
length: 521
go: ENSG00000102753;
snps: rs1043015
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; host cell [GO:0043657]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nuclear import signal receptor activity [GO:0061608]; nuclear localization sequence binding [GO:0008139]; protein C-terminus binding [GO:0008022]; protein transporter activity [GO:0008565]; modulation by virus of host process [GO:0019054]; NLS-bearing protein import into nucleus [GO:0006607]; protein-containing complex assembly [GO:0065003]; viral entry into host cell [GO:0046718]; viral penetration into host nucleus [GO:0075732]


uniprotID: P52294
geneSymbol: KPNA1
reactome: R-HSA-1169408;R-HSA-162592;R-HSA-168271;R-HSA-168276;R-HSA-180910;R-HSA-211227;
pdb: 2JDQ;3TJ3;4B18;
length: 538
go: ENSG00000114030;
snps: rs4678193
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7604027}. Nucleus {ECO:0000269|PubMed:7604027}.
name:
Importin subunit alpha-5 (Karyopherin subunit alpha-1) (Nucleoprotein interactor 1) (NPI-1) (RAG cohort protein 2) (SRP1-beta) [Cleaved into: Importin subunit alpha-5, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; host cell [GO:0043657]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; nuclear import signal receptor activity [GO:0061608]; nuclear localization sequence binding [GO:0008139]; protein transporter activity [GO:0008565]; apoptotic DNA fragmentation [GO:0006309]; intracellular transport of virus [GO:0075733]; modulation by virus of host process [GO:0019054]; NLS-bearing protein import into nucleus [GO:0006607]; postsynapse to nucleus signaling pathway [GO:0099527]; regulation of DNA recombination [GO:0000018]


uniprotID: O15131
geneSymbol: KPNA5
reactome: R-HSA-1169408;R-HSA-168276;
pdb: 4U2X;
name: Importin subunit alpha-6 (Karyopherin subunit alpha-5)
length: 536
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nuclear import signal receptor activity [GO:0061608]; nuclear localization sequence binding [GO:0008139]; protein transporter activity [GO:0008565]; modulation by virus of host process [GO:0019054]; NLS-bearing protein import into nucleus [GO:0006607]


uniprotID: O60684
geneSymbol: KPNA6
pdb: 4UAD;
name: Importin subunit alpha-7 (Karyopherin subunit alpha-6)
length: 536
go: ENSG00000025800;
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nuclear import signal receptor activity [GO:0061608]; nuclear localization sequence binding [GO:0008139]; protein transporter activity [GO:0008565]; maternal process involved in female pregnancy [GO:0060135]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q8IZP7
geneSymbol: HS6ST3
reactome: R-HSA-2022928;
name: Heparan-sulfate 6-O-sulfotransferase 3 (HS6ST-3) (EC 2.8.2.-)
length: 471
go: ENSG00000185352;
snps: rs9516771
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; heparan sulfate 6-O-sulfotransferase activity [GO:0017095]; heparan sulfate proteoglycan biosynthetic process, enzymatic modification [GO:0015015]


uniprotID: Q75N03
geneSymbol: CBLL1
reactome: R-HSA-8876493;
length: 491
go: ENSG00000105879;
name:
E3 ubiquitin-protein ligase Hakai (EC 2.3.2.27) (Casitas B-lineage lymphoma-transforming sequence-like protein 1) (c-Cbl-like protein 1) (RING finger protein 188) (RING-type E3 ubiquitin transferase Hakai)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; RNA N6-methyladenosine methyltransferase complex [GO:0036396]; ubiquitin ligase complex [GO:0000151]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell-cell adhesion [GO:0098609]; entry of bacterium into host cell [GO:0035635]; mRNA methylation [GO:0080009]; multicellular organism development [GO:0007275]; negative regulation of cell adhesion [GO:0007162]; positive regulation of cell migration [GO:0030335]; positive regulation of endocytosis [GO:0045807]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q75N03-1; Sequence=Displayed; Name=2; IsoId=Q75N03-2; Sequence=VSP_054879; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:24100041}. Nucleus, nucleoplasm {ECO:0000269|PubMed:24100041}. Cytoplasm {ECO:0000250|UniProtKB:Q9JIY2}. Note=Mainly nuclear with some fraction located in the cytoplasm. ZC3H13 is required to anchor component of the MACOM subcomplex, such as VIRMA, in the nucleus. {ECO:0000250|UniProtKB:Q9JIY2}.


uniprotID: Q96MB7
geneSymbol: HARBI1
name: Putative nuclease HARBI1 (EC 3.1.-.-) (Harbinger transposase-derived nuclease)
length: 349
go: ENSG00000180423;
sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; nuclease activity [GO:0004518]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18339812}. Cytoplasm {ECO:0000269|PubMed:18339812}. Note=Interaction with NAIF1 promotes translocation to the nucleus.


uniprotID: Q9P035
geneSymbol: HACD3
reactome: R-HSA-75876;
length: 362
go: ENSG00000074696;
snps: rs11632737 rs2279854
name:
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 3) (HACD3) (Butyrate-induced protein 1) (B-ind1) (hB-ind1) (Protein-tyrosine phosphatase-like A domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; 3-hydroxy-arachidoyl-CoA dehydratase activity [GO:0102343]; 3-hydroxy-behenoyl-CoA dehydratase activity [GO:0102344]; 3-hydroxy-lignoceroyl-CoA dehydratase activity [GO:0102345]; 3-hydroxyacyl-CoA dehydratase activity [GO:0018812]; enzyme binding [GO:0019899]; GTPase activator activity [GO:0005096]; very-long-chain 3-hydroxyacyl-CoA dehydratase activity [GO:0102158]; activation of JUN kinase activity [GO:0007257]; fatty acid elongation [GO:0030497]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; positive regulation by virus of viral protein levels in host cell [GO:0046726]; positive regulation of viral genome replication [GO:0045070]; Rac protein signal transduction [GO:0016601]; Rho protein signal transduction [GO:0007266]; small GTPase mediated signal transduction [GO:0007264]; sphingolipid biosynthetic process [GO:0030148]; very long-chain fatty acid biosynthetic process [GO:0042761]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P035-1; Sequence=Displayed; Name=2; IsoId=Q9P035-2; Sequence=VSP_056070; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18554506}; Multi-pass membrane protein {ECO:0000269|PubMed:18554506}.


uniprotID: Q5VWC8
geneSymbol: HACD4
reactome: R-HSA-75876;
length: 232
go: ENSG00000188921;
snps: rs2298260
name:
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 4) (HACD4) (Protein-tyrosine phosphatase-like A domain-containing protein 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 3-hydroxy-arachidoyl-CoA dehydratase activity [GO:0102343]; 3-hydroxy-behenoyl-CoA dehydratase activity [GO:0102344]; 3-hydroxy-lignoceroyl-CoA dehydratase activity [GO:0102345]; 3-hydroxyacyl-CoA dehydratase activity [GO:0018812]; enzyme binding [GO:0019899]; very-long-chain 3-hydroxyacyl-CoA dehydratase activity [GO:0102158]; fatty acid elongation [GO:0030497]; sphingolipid biosynthetic process [GO:0030148]; very long-chain fatty acid biosynthetic process [GO:0042761]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18554506}; Multi-pass membrane protein {ECO:0000269|PubMed:18554506}.


uniprotID: Q8TF76
geneSymbol: HASPIN
pdb: 2VUW;2WB8;3DLZ;3E7V;3F2N;3FMD;3IQ7;4OUC;4QTC;5HTB;5HTC;6G34;6G35;6G36;6G37;6G38;6G39;6G3A;
length: 798
go: ENSG00000177602;
drug: DB04604;DB07995;
name:
Serine/threonine-protein kinase haspin (EC 2.7.11.1) (Germ cell-specific gene 2 protein) (H-haspin) (Haploid germ cell-specific nuclear protein kinase)

sequence:

opentargets:
centrosome [GO:0005813]; chromosome [GO:0005694]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; spindle [GO:0005819]; ATP binding [GO:0005524]; histone kinase activity (H3-T3 specific) [GO:0072354]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore [GO:2000751]; intracellular signal transduction [GO:0035556]; mitotic sister chromatid cohesion [GO:0007064]; protein localization to chromosome, centromeric region [GO:0071459]; protein phosphorylation [GO:0006468]

snps:
rs11653889 rs9907144 rs55991903 rs220462 rs56224301 rs55649477 rs220461 rs3809806 rs7223226 rs56134695 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11228240, ECO:0000269|PubMed:11311556}; IsoId=Q8TF76-1; Sequence=Displayed; Name=2 {ECO:0000303|PubMed:14702039}; IsoId=Q8TF76-2; Sequence=VSP_050671, VSP_050672; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15681610}. Chromosome {ECO:0000269|PubMed:15681610}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15681610}. Note=Nuclear during interphase and associates with the chromosomes and spindle apparatus during mitosis.


uniprotID: Q99871
geneSymbol: HAUS7
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 368
go: ENSG00000213397;
name:
HAUS augmin-like complex subunit 7 (26S proteasome-associated UCH37-interacting protein 1) (UCHL5-interacting protein) (X-linked protein STS1769)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; microtubule [GO:0005874]; spindle [GO:0005819]; thioesterase binding [GO:0031996]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99871-1; Sequence=Displayed; Name=2; IsoId=Q99871-2; Sequence=VSP_037669; Note=Derived from EST data.; Name=3; IsoId=Q99871-3; Sequence=VSP_040920, VSP_040921; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.


uniprotID: Q8TDQ0
geneSymbol: HAVCR2
reactome: R-HSA-451927;
pdb: 5DZL;5F71;
length: 301
go: ENSG00000135077;
snps: rs1036199
name:
Hepatitis A virus cellular receptor 2 (HAVcr-2) (T-cell immunoglobulin and mucin domain-containing protein 3) (TIMD-3) (T-cell immunoglobulin mucin receptor 3) (TIM-3) (T-cell membrane protein 3) (CD antigen CD366)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; early endosome [GO:0005769]; immunological synapse [GO:0001772]; integral component of membrane [GO:0016021]; mediator complex [GO:0016592]; metal ion binding [GO:0046872]; adaptive immune response [GO:0002250]; cellular response to lipopolysaccharide [GO:0071222]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; macrophage activation involved in immune response [GO:0002281]; maternal process involved in female pregnancy [GO:0060135]; natural killer cell tolerance induction [GO:0002519]; negative regulation of defense response to bacterium [GO:1900425]; negative regulation of gene expression [GO:0010629]; negative regulation of granulocyte colony-stimulating factor production [GO:0071656]; negative regulation of immunological synapse formation [GO:2000521]; negative regulation of interferon-alpha production [GO:0032687]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of interleukin-3 production [GO:0032712]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of myeloid dendritic cell activation [GO:0030886]; negative regulation of natural killer cell activation [GO:0032815]; negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002859]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:2001189]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of T-helper 1 type immune response [GO:0002826]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of chemokine production [GO:0032722]; positive regulation of defense response to bacterium [GO:1900426]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1 production [GO:0032732]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of macrophage activation [GO:0043032]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tumor necrosis factor secretion [GO:1904469]; regulation of tolerance induction dependent upon immune response [GO:0002652]; regulation of transcription by RNA polymerase II [GO:0006357]; toll-like receptor 3 signaling pathway [GO:0034138]; toll-like receptor 7 signaling pathway [GO:0034154]; toll-like receptor 9 signaling pathway [GO:0034162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDQ0-1; Sequence=Displayed; Name=2; IsoId=Q8TDQ0-2; Sequence=VSP_017287, VSP_017288; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction {ECO:0000269|PubMed:24337741}. Note=Localizes to the immunological synapse between CD8+ T-cells and target cells. {ECO:0000269|PubMed:24337741}.


uniprotID: Q96EW2
geneSymbol: HSPBAP1
length: 488
go: ENSG00000169087;
opentargets: cytoplasm [GO:0005737]
snps: rs16833517
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
HSPB1-associated protein 1 (27 kDa heat shock protein-associated protein 1) (Protein associated with small stress protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EW2-1; Sequence=Displayed; Name=2; IsoId=Q96EW2-2; Sequence=VSP_024442, VSP_024443; Note=No experimental confirmation available.; Name=3; IsoId=Q96EW2-3; Sequence=VSP_024444, VSP_024445; Note=No experimental confirmation available.; 


uniprotID: P09105
geneSymbol: HBQ1
name: Hemoglobin subunit theta-1 (Hemoglobin theta-1 chain) (Theta-1-globin)
length: 142
go: ENSG00000086506;
sequence:
MALSAEDRALVRALWKKLGSNVGVYTTEALERTFLAFPATKTYFSHLDLSPGSSQVRAHGQKVADALSLAVERLDDLPHALSALSHLHACQLRVDPASFQLLGHCLLVTLARHYPGDFSPALQASLDKFLSHVISALVSEYR

opentargets:
haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; oxygen transport [GO:0015671]; protein heterooligomerization [GO:0051291]


uniprotID: P69892
geneSymbol: HBG2
reactome: R-HSA-983231;
pdb: 1FDH;4MQJ;4MQK;
length: 147
go: ENSG00000196565;
name:
Hemoglobin subunit gamma-2 (Gamma-2-globin) (Hb F Ggamma) (Hemoglobin gamma-2 chain) (Hemoglobin gamma-G chain)

sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; blood coagulation [GO:0007596]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; protein heterooligomerization [GO:0051291]

snps:
rs36006195 rs34263826 rs34501593 rs35521813 rs35521813 rs281864890 rs34438981 rs34907654 rs35621390 rs34018799 rs63751196 rs33955330 rs33955330 rs281864891 rs281864891 rs35687396 rs35654328 rs35885783 rs35799058 rs34532478 rs281864892 rs34878913 rs34017450 rs34915311 rs28933078 rs28933078 rs34474104 rs34019507 rs34264694 rs35481866 rs587776864 rs281860594 rs1061234 rs34363111 rs34150306 rs63751148 rs35103459 rs35812514 rs34876238 rs35717854 rs36049074 rs35020253 rs34703519 rs63750021 rs34997902 rs35826780 rs34807671 


uniprotID: Q9NV31
geneSymbol: IMP3
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 2CQJ;
name: U3 small nucleolar ribonucleoprotein protein IMP3 (U3 snoRNP protein IMP3) (BRMS2)
length: 184
go: ENSG00000177971;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12655004}.
sequence:
MVRKLKFHEQKLLKQVDFLNWEVTDHNLHELRVLRRYRLQRREDYTRYNQLSRAVRELARRLRDLPERDQFRVRASAALLDKLYALGLVPTRGSLELCDFVTASSFCRRRLPTVLLKLRMAQHLQAAVAFVEQGHVRVGPDVVTDPAFLVTRSMEDFVTWVDSSKIKRHVLEYNEERDDFDLEA

opentargets:
Mpp10 complex [GO:0034457]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; preribosome [GO:0030684]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; snoRNA binding [GO:0030515]; rRNA processing [GO:0006364]


uniprotID: P29218
geneSymbol: IMPA1
reactome: R-HSA-1855183;
pdb: 1AWB;1IMA;1IMB;1IMC;1IMD;1IME;1IMF;2HHM;4AS4;
length: 277
go: ENSG00000133731;
drug: DB03542;DB01356;
snps: rs204781
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17068342}.
name:
Inositol monophosphatase 1 (IMP 1) (IMPase 1) (EC 3.1.3.25) (D-galactose 1-phosphate phosphatase) (EC 3.1.3.94) (Inositol-1(or 4)-monophosphatase 1) (Lithium-sensitive myo-inositol monophosphatase A1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; identical protein binding [GO:0042802]; inositol monophosphate 1-phosphatase activity [GO:0008934]; inositol monophosphate 3-phosphatase activity [GO:0052832]; inositol monophosphate 4-phosphatase activity [GO:0052833]; inositol monophosphate phosphatase activity [GO:0052834]; lithium ion binding [GO:0031403]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein homodimerization activity [GO:0042803]; inositol biosynthetic process [GO:0006021]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; phosphate-containing compound metabolic process [GO:0006796]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol phosphorylation [GO:0046854]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P29218-1; Sequence=Displayed; Name=2; IsoId=P29218-2; Sequence=VSP_042521; Note=No experimental confirmation available.; Name=3; IsoId=P29218-3; Sequence=VSP_046308; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O14732
geneSymbol: IMPA2
reactome: R-HSA-1855183;
pdb: 2CZH;2CZI;2CZK;2DDK;2FVZ;
length: 288
go: ENSG00000141401;
drug: DB01356;
snps: rs16976948
name:
Inositol monophosphatase 2 (IMP 2) (IMPase 2) (EC 3.1.3.25) (Inositol-1(or 4)-monophosphatase 2) (Myo-inositol monophosphatase A2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inositol monophosphate 1-phosphatase activity [GO:0008934]; inositol monophosphate 3-phosphatase activity [GO:0052832]; inositol monophosphate 4-phosphatase activity [GO:0052833]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; inositol biosynthetic process [GO:0006021]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; phosphate-containing compound metabolic process [GO:0006796]; phosphatidylinositol phosphorylation [GO:0046854]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14732-1; Sequence=Displayed; Name=2; Synonyms=A2b; IsoId=O14732-2; Sequence=VSP_013674; 


uniprotID: Q9NX62
geneSymbol: IMPAD1
reactome: R-HSA-156584;
length: 359
go: ENSG00000104331;
snps: rs387907101 rs387907102
name:
Inositol monophosphatase 3 (IMP 3) (IMPase 3) (EC 3.1.3.25) (EC 3.1.3.7) (Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase) (Golgi-resident PAP phosphatase) (gPAPP) (Inositol monophosphatase domain-containing protein 1) (Inositol-1(or 4)-monophosphatase 3) (Myo-inositol monophosphatase A3)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleus [GO:0005634]; 3'(2'),5'-bisphosphate nucleotidase activity [GO:0008441]; 3'-nucleotidase activity [GO:0008254]; inositol monophosphate 1-phosphatase activity [GO:0008934]; inositol monophosphate 3-phosphatase activity [GO:0052832]; inositol monophosphate 4-phosphatase activity [GO:0052833]; metal ion binding [GO:0046872]; 3'-phosphoadenosine 5'-phosphosulfate metabolic process [GO:0050427]; chondrocyte development [GO:0002063]; chondroitin sulfate metabolic process [GO:0030204]; embryonic digit morphogenesis [GO:0042733]; endochondral ossification [GO:0001958]; inositol biosynthetic process [GO:0006021]; phosphatidylinositol phosphorylation [GO:0046854]; post-embryonic development [GO:0009791]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18695242}; Single-pass type II membrane protein {ECO:0000269|PubMed:18695242}.


uniprotID: P49019
geneSymbol: HCAR3
reactome: R-HSA-3296197;R-HSA-418594;
length: 387
go: ENSG00000255398;
drug: DB00627;
snps: rs1798192 rs17884481 rs118091133 rs116821988 rs1696351 rs201835480
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Hydroxycarboxylic acid receptor 3 (G-protein coupled receptor 109B) (G-protein coupled receptor HM74) (G-protein coupled receptor HM74B) (Niacin receptor 2) (Nicotinic acid receptor 2)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9P2X3
geneSymbol: IMPACT
name: Protein IMPACT (Imprinted and ancient gene protein homolog)
length: 320
go: ENSG00000154059;
snps: rs544203385 rs582234 rs677688
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O55091}.
sequence:

opentargets:
cytoplasm [GO:0005737]; polysome [GO:0005844]; actin binding [GO:0003779]; ribosome binding [GO:0043022]; cellular response to acidic pH [GO:0071468]; cellular response to amino acid starvation [GO:0034198]; cellular response to benomyl [GO:0072755]; cellular response to glucose starvation [GO:0042149]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to leucine starvation [GO:1990253]; cellular response to UV-C [GO:0071494]; negative regulation of cell death [GO:0060548]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter in response to stress [GO:0097201]; neuron projection extension [GO:1990138]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of translational initiation in response to starvation [GO:0071264]; regulation of eIF2 alpha phosphorylation by amino acid starvation [GO:0060733]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2X3-1; Sequence=Displayed; Name=2; IsoId=Q9P2X3-2; Sequence=VSP_033136; Note=No experimental confirmation available.; 


uniprotID: Q99714
geneSymbol: HSD17B10
reactome: R-HSA-6785470;R-HSA-6787450;R-HSA-70895;R-HSA-8868766;
pdb: 1F67;1SO8;1U7T;2O23;
length: 261
go: ENSG00000072506;
drug: DB00157;
snps: rs104886492 rs587777651 rs28935476 rs28935475 rs886041974 rs122461163 rs62626305
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12917011, ECO:0000269|PubMed:18984158}.
name:
3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.35) (17-beta-hydroxysteroid dehydrogenase 10) (17-beta-HSD 10) (EC 1.1.1.51) (2-methyl-3-hydroxybutyryl-CoA dehydrogenase) (MHBD) (3-hydroxy-2-methylbutyryl-CoA dehydrogenase) (EC 1.1.1.178) (3-hydroxyacyl-CoA dehydrogenase type II) (Endoplasmic reticulum-associated amyloid beta-peptide-binding protein) (Mitochondrial ribonuclease P protein 2) (Mitochondrial RNase P protein 2) (Short chain dehydrogenase/reductase family 5C member 1) (Short-chain type dehydrogenase/reductase XH98G2) (Type II HADH)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrial ribonuclease P complex [GO:0030678]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity [GO:0047015]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; cholate 7-alpha-dehydrogenase activity [GO:0008709]; RNA binding [GO:0003723]; testosterone dehydrogenase [NAD(P)] activity [GO:0030283]; tRNA binding [GO:0000049]; branched-chain amino acid catabolic process [GO:0009083]; lipid metabolic process [GO:0006629]; mitochondrial tRNA 3'-end processing [GO:1990180]; mitochondrial tRNA 5'-end processing [GO:0097745]; mitochondrial tRNA methylation [GO:0070901]; mitochondrial tRNA processing [GO:0090646]; mitochondrion organization [GO:0007005]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99714-1; Sequence=Displayed; Name=2; IsoId=Q99714-2; Sequence=VSP_007830; Note=No experimental confirmation available.; 


uniprotID: Q17R60
geneSymbol: IMPG1
length: 797
go: ENSG00000112706;
snps: rs713993047 rs713993045 rs9443201 rs3734311 rs3734312 rs10943299 rs3734313 rs3778005
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Interphotoreceptor matrix proteoglycan 1 (Interphotoreceptor matrix proteoglycan of 150 kDa) (IPM-150) (Sialoprotein associated with cones and rods)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular matrix structural constituent [GO:0005201]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q17R60-1; Sequence=Displayed; Name=2; IsoId=Q17R60-2; Sequence=VSP_055981, VSP_055982, VSP_055983; Note=No experimental confirmation available.; 


uniprotID: P51610
geneSymbol: HCFC1
reactome: R-HSA-2151201;R-HSA-3214847;R-HSA-5689603;
pdb: 4GO6;4N39;4N3A;4N3B;4N3C;5LWV;
length: 2035
go: ENSG00000172534;
snps: rs318240758 rs1051152 rs6643651
name:
Host cell factor 1 (HCF) (HCF-1) (C1 factor) (CFF) (VCAF) (VP16 accessory protein) [Cleaved into: HCF N-terminal chain 1; HCF N-terminal chain 2; HCF N-terminal chain 3; HCF N-terminal chain 4; HCF N-terminal chain 5; HCF N-terminal chain 6; HCF C-terminal chain 1; HCF C-terminal chain 2; HCF C-terminal chain 3; HCF C-terminal chain 4; HCF C-terminal chain 5; HCF C-terminal chain 6]

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; histone acetyltransferase complex [GO:0000123]; membrane [GO:0016020]; MLL1 complex [GO:0071339]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; Set1C/COMPASS complex [GO:0048188]; activating transcription factor binding [GO:0033613]; cadherin binding [GO:0045296]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; identical protein binding [GO:0042802]; protein binding, bridging [GO:0030674]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription coactivator activity [GO:0003713]; blastocyst hatching [GO:0001835]; cell cycle [GO:0007049]; cellular response to organic cyclic compound [GO:0071407]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; mitochondrion organization [GO:0007005]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle [GO:0045787]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; regulation of protein complex assembly [GO:0043254]; regulation of transcription, DNA-templated [GO:0006355]; release from viral latency [GO:0019046]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P51610-1; Sequence=Displayed; Name=2; IsoId=P51610-2; Sequence=VSP_002815; Note=The N- and the C-terminal fragments fail to associate. No experimental confirmation available.; Name=3; IsoId=P51610-3; Sequence=VSP_012984, VSP_012985; Note=No experimental confirmation available.; Name=4; IsoId=P51610-4; Sequence=VSP_047138; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12235138}. Nucleus {ECO:0000269|PubMed:10623756, ECO:0000269|PubMed:12235138, ECO:0000269|PubMed:19188440, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:21285374, ECO:0000269|PubMed:23629655}. Note=HCFC1R1 modulates its subcellular localization and overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm (PubMed:12235138). Non-processed HCFC1 associates with chromatin. Colocalizes with CREB3 and CANX in the ER. {ECO:0000269|PubMed:12235138}.


uniprotID: Q6MZN7
geneSymbol: HCP5
name: HLA class I histocompatibility antigen protein P5 (HLA complex protein P5) (Protein P5-1)
length: 132
opentargets: defense response [GO:0006952]
snps: rs17206855 rs2255221 rs2255223 rs2395029 rs3130907
sequence:
MLLRMSEHRNEALGNYLEMRLKSSFLRGLGSWKSNPLRLGGWTILLTLTMGQGEPGGPQGDPWVPHELLLPSLCDSSHASSWGSGSITCAWRGGDSSSHPLVSGHILSNSPVAAVMCSSMGTHLSPFKGTLL


uniprotID: Q9C086
geneSymbol: INO80B
reactome: R-HSA-5689603;R-HSA-5696394;
pdb: 6ETX;
length: 356
go: ENSG00000115274;
snps: rs1054209
name:
INO80 complex subunit B (High mobility group AT-hook 1-like 4) (IES2 homolog) (hIes2) (PAP-1-associated protein 1) (PAPA-1) (Zinc finger HIT domain-containing protein 4)

sequence:

opentargets:
Ino80 complex [GO:0031011]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; protein deubiquitination [GO:0016579]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15556297, ECO:0000269|PubMed:18922472}. Nucleus, nucleolus {ECO:0000269|PubMed:15556297}.


uniprotID: Q9Y3Q4
geneSymbol: HCN4
reactome: R-HSA-1296061;
pdb: 2MNG;3OTF;3U11;4HBN;4KL1;4NVP;
name: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4
length: 1203
go: ENSG00000138622;
snps: rs104894485 rs104894488
sequence:

opentargets:
HCN channel complex [GO:0098855]; intrinsic component of plasma membrane [GO:0031226]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cAMP binding [GO:0030552]; identical protein binding [GO:0042802]; intracellular cAMP-activated cation channel activity [GO:0005222]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated potassium channel activity involved in SA node cell action potential depolarization [GO:0086041]; voltage-gated sodium channel activity [GO:0005248]; blood circulation [GO:0008015]; cation transport [GO:0006812]; cellular response to cAMP [GO:0071320]; cellular response to cGMP [GO:0071321]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; membrane depolarization during SA node cell action potential [GO:0086046]; muscle contraction [GO:0006936]; potassium ion import across plasma membrane [GO:1990573]; potassium ion transmembrane transport [GO:0071805]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of cardiac muscle contraction [GO:0055117]; regulation of heart rate [GO:0002027]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane depolarization [GO:0003254]; regulation of membrane potential [GO:0042391]; SA node cell action potential [GO:0086015]; sodium ion import across plasma membrane [GO:0098719]; sodium ion transmembrane transport [GO:0035725]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:10430953, ECO:0000269|PubMed:16407510}; Multi-pass membrane protein {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:10430953, ECO:0000269|PubMed:16407510}.


uniprotID: P48551
geneSymbol: IFNAR2
reactome: R-HSA-909733;R-HSA-912694;
pdb: 1N6U;1N6V;2HYM;2KZ1;2LAG;3S8W;3S9D;3SE3;3SE4;
length: 515
go: ENSG00000159110;
drug: DB00011;DB00018;DB00069;DB00060;DB00068;DB05472;DB00008;DB00022;
snps: rs2229207 rs1051393 rs17860223
name:
Interferon alpha/beta receptor 2 (IFN-R-2) (IFN-alpha binding protein) (IFN-alpha/beta receptor 2) (Interferon alpha binding protein) (Type I interferon receptor 2)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; protein kinase binding [GO:0019901]; type I interferon binding [GO:0019962]; type I interferon receptor activity [GO:0004905]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; JAK-STAT cascade [GO:0007259]; regulation of type I interferon-mediated signaling pathway [GO:0060338]; response to interferon-alpha [GO:0035455]; response to interferon-beta [GO:0035456]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long form beta {ECO:0000303|PubMed:7665574}, IFNaR2-2, IFNaR2-1b; IsoId=P48551-1; Sequence=Displayed; Name=2; Synonyms=Short form beta {ECO:0000303|PubMed:7665574}, IFNaR2-1, IFNaR2-1a; IsoId=P48551-2; Sequence=VSP_001738, VSP_001739; Name=3; Synonyms=IFNaR2-3, IFNaR2-2a, P40 {ECO:0000303|PubMed:8181059}; IsoId=P48551-3; Sequence=VSP_001736, VSP_001737; Note=Soluble receptor.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:7665574}; Single-pass type I membrane protein {ECO:0000269|PubMed:7665574}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:7665574, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}; Single-pass type I membrane protein {ECO:0000269|PubMed:7665574}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059}.


uniprotID: Q3KP66
geneSymbol: INAVA
name: Innate immunity activator protein
length: 663
go: ENSG00000163362;
snps: rs41313912 rs296520
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; activation of MAPK activity [GO:0000187]; adherens junction maintenance [GO:0034334]; cytokine production involved in immune response [GO:0002367]; innate immune response [GO:0045087]; intestinal epithelial structure maintenance [GO:0060729]; nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070431]; pattern recognition receptor signaling pathway [GO:0002221]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of stress-activated MAPK cascade [GO:0032874]; reactive oxygen species biosynthetic process [GO:1903409]; response to muramyl dipeptide [GO:0032495]; response to peptidoglycan [GO:0032494]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3KP66-1; Sequence=Displayed; Name=2; IsoId=Q3KP66-3; Sequence=VSP_046048; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28436939}. Cytoplasm {ECO:0000269|PubMed:28436939}. Note=Translocates to the nucleus upon NOD2 stimulation. {ECO:0000269|PubMed:28436939}.


uniprotID: Q0VD86
geneSymbol: INCA1
name: Protein INCA1 (Inhibitor of CDK interacting with cyclin A1)
length: 236
go: ENSG00000196388;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; protein-containing complex binding [GO:0044877]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; positive regulation of apoptotic signaling pathway [GO:2001235]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VD86-1; Sequence=Displayed; Name=2; IsoId=Q0VD86-2; Sequence=VSP_033235; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15159402, ECO:0000269|PubMed:18756329}. Cytoplasm {ECO:0000269|PubMed:18756329}.


uniprotID: Q96EL1
geneSymbol: INKA1
pdb: 4XBR;4XBU;
length: 285
name:
PAK4-inhibitor INKA1 (Induced in neural crest by AP2-alpha protein homolog) (HInca) (Inka box actin regulator 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein kinase binding [GO:0019901]; protein serine/threonine kinase inhibitor activity [GO:0030291]; neural tube development [GO:0021915]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26607847}. Cytoplasm {ECO:0000269|PubMed:26607847}. Note=Mainly nuclear (PubMed:26607847). Relocalizes to the cytoplasm following interaction with PAK4 (PubMed:26607847). {ECO:0000269|PubMed:26607847}.


uniprotID: Q969S8
geneSymbol: HDAC10
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;
name: Histone deacetylase 10 (HD10) (EC 3.5.1.98)
length: 669
go: ENSG00000100429;
drug: DB05015;DB06603;
snps: rs34402301
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Excluded from the nucleoli.
sequence:

opentargets:
cytoplasm [GO:0005737]; histone deacetylase complex [GO:0000118]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; protein deacetylase activity [GO:0033558]; chromatin organization [GO:0006325]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; oligodendrocyte development [GO:0014003]; protein deacetylation [GO:0006476]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=B, Alpha; IsoId=Q969S8-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q969S8-2; Sequence=VSP_002089; Name=4; Synonyms=A; IsoId=Q969S8-4; Sequence=VSP_002090; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q969S8-5; Sequence=VSP_014698, VSP_014699; 


uniprotID: O15379
geneSymbol: HDAC3
pdb: 4A69;
name: Histone deacetylase 3 (HD3) (EC 3.5.1.98) (RPD3-2) (SMAP45)
length: 428
go: ENSG00000171720;
drug: DB05015;DB05651;DB06603;DB05223;DB02546;
snps: rs34901743
reactome:
R-HSA-1368071;R-HSA-193670;R-HSA-1989781;R-HSA-2122947;R-HSA-2151201;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;R-HSA-381340;R-HSA-390471;R-HSA-400206;R-HSA-400253;R-HSA-5617472;R-HSA-8940973;R-HSA-8943724;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; histone deacetylase complex [GO:0000118]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; cyclin binding [GO:0030332]; enzyme binding [GO:0019899]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; NF-kappaB binding [GO:0051059]; protein deacetylase activity [GO:0033558]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cellular response to fluid shear stress [GO:0071498]; chromatin organization [GO:0006325]; circadian rhythm [GO:0007623]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; negative regulation of apoptotic process [GO:0043066]; negative regulation of JNK cascade [GO:0046329]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of TOR signaling [GO:0032008]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deacetylation [GO:0006476]; regulation of lipid metabolic process [GO:0019216]; regulation of protein stability [GO:0031647]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=RPD3-2B; IsoId=O15379-1; Sequence=Displayed; Name=2; Synonyms=RPD3-2A; IsoId=O15379-2; Sequence=VSP_002079; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21030595}. Cytoplasm {ECO:0000269|PubMed:25190803}. Cytoplasm, cytosol {ECO:0000269|PubMed:21030595}. Note=Colocalizes with XBP1 and AKT1 in the cytoplasm (PubMed:25190803). Predominantly expressed in the nucleus in the presence of CCAR2. {ECO:0000269|PubMed:21030595, ECO:0000269|PubMed:25190803}.


uniprotID: Q7Z4H3
geneSymbol: HDDC2
pdb: 4DMB;4L1J;4L7E;4L7W;
length: 204
go: ENSG00000111906;
snps: rs12213371
name:
HD domain-containing protein 2 (Hepatitis C virus NS5A-transactivated protein 2) (HCV NS5A-transactivated protein 2)

sequence:

opentargets:
5'-deoxynucleotidase activity [GO:0002953]; dUMP biosynthetic process [GO:0006226]; pyrimidine deoxyribonucleotide salvage [GO:0010139]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z4H3-1; Sequence=Displayed; Name=2; IsoId=Q7Z4H3-2; Sequence=VSP_029556; Name=3; IsoId=Q7Z4H3-3; Sequence=VSP_029557, VSP_029558; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9BY41
geneSymbol: HDAC8
reactome: R-HSA-2122947;R-HSA-2467813;R-HSA-2500257;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;
name: Histone deacetylase 8 (HD8) (EC 3.5.1.98)
length: 377
go: ENSG00000147099;
drug: DB07350;DB02565;DB08168;DB05015;DB02917;DB06603;DB02546;
snps: rs397515416 rs397515417 rs398122909 rs397515418
pdb:
1T64;1T67;1T69;1VKG;1W22;2V5W;2V5X;3EW8;3EWF;3EZP;3EZT;3F06;3F07;3F0R;3MZ3;3MZ4;3MZ6;3MZ7;3RQD;3SFF;3SFH;4QA0;4QA1;4QA2;4QA3;4QA4;4QA5;4QA6;4QA7;4RN0;4RN1;4RN2;5BWZ;5D1B;5D1C;5D1D;5DC5;5DC6;5DC7;5DC8;5FCW;5THS;5THT;5THU;5THV;5VI6;

sequence:

opentargets:
cytoplasm [GO:0005737]; histone deacetylase complex [GO:0000118]; nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; histone deacetylase activity [GO:0004407]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; metal ion binding [GO:0046872]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; transcription factor binding [GO:0008134]; chromatin assembly or disassembly [GO:0006333]; chromatin organization [GO:0006325]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cohesin loading [GO:0071922]; regulation of protein stability [GO:0031647]; regulation of telomere maintenance [GO:0032204]; sister chromatid cohesion [GO:0007062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BY41-1; Sequence=Displayed; Name=4; IsoId=Q9BY41-4; Sequence=VSP_043426; Note=No experimental confirmation available.; Name=5; IsoId=Q9BY41-5; Sequence=VSP_043427, VSP_007177; Note=No experimental confirmation available.; Name=6; IsoId=Q9BY41-6; Sequence=VSP_043426, VSP_046834, VSP_046835, VSP_046836; Note=Gene prediction based on EST data.; Name=7; IsoId=Q9BY41-7; Sequence=VSP_046832, VSP_046833; Note=Gene prediction based on EST data.; Name=8; IsoId=Q9BY41-8; Sequence=VSP_047502; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing smooth muscle differentiation.


uniprotID: Q9Y3E1
geneSymbol: HDGFL3
length: 203
go: ENSG00000166503;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10581169}.
name:
Hepatoma-derived growth factor-related protein 3 (HRP-3) (Hepatoma-derived growth factor 2) (HDGF-2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; growth factor activity [GO:0008083]; microtubule binding [GO:0008017]; tubulin binding [GO:0015631]; cell proliferation [GO:0008283]; microtubule polymerization [GO:0046785]; negative regulation of microtubule depolymerization [GO:0007026]; neuron projection development [GO:0031175]


uniprotID: Q08623
geneSymbol: PUDP
reactome: R-HSA-73614;
pdb: 3L5K;
length: 228
go: ENSG00000130021;
snps: rs1131197 rs3747386
name:
Pseudouridine-5'-phosphatase (EC 3.1.3.96) (Haloacid dehalogenase-like hydrolase domain-containing protein 1) (Haloacid dehalogenase-like hydrolase domain-containing protein 1A) (Protein GS1) (Pseudouridine-5'-monophosphatase) (5'-PsiMPase)

sequence:

opentargets:
cytosol [GO:0005829]; hydrolase activity [GO:0016787]; magnesium ion binding [GO:0000287]; pseudouridine 5'-phosphatase activity [GO:1990738]; nucleotide metabolic process [GO:0009117]; pyrimidine nucleoside salvage [GO:0043097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q08623-1; Sequence=Displayed; Name=2; IsoId=Q08623-2; Sequence=VSP_040029; Note=No experimental confirmation available.; Name=3; IsoId=Q08623-3; Sequence=VSP_042020; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q08623-4; Sequence=VSP_044804; Note=No experimental confirmation available.; 


uniprotID: Q9BXW7
geneSymbol: HDHD5
length: 423
go: ENSG00000069998;
opentargets: mitochondrion [GO:0005739]; glycerophospholipid biosynthetic process [GO:0046474]
snps: rs35665085 rs16982020 rs35327402
name:
Haloacid dehalogenase-like hydrolase domain-containing 5 (Cat eye syndrome critical region protein 5)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9BXW7-1; Sequence=Displayed; Name=1; IsoId=Q9BXW7-2; Sequence=VSP_003840; 


uniprotID: P42858
geneSymbol: HTT
pdb: 2D3X;2LD0;2LD2;3IO4;3IO6;3IOR;3IOT;3IOU;3IOV;3IOW;3LRH;4FE8;4FEB;4FEC;4FED;4RAV;6EZ8;
name: Huntingtin (Huntington disease protein) (HD protein)
length: 3142
go: ENSG00000197386;
sequence:

opentargets:
autophagosome [GO:0005776]; axon [GO:0030424]; centriole [GO:0005814]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; inclusion body [GO:0016234]; late endosome [GO:0005770]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic cytosol [GO:0099524]; presynaptic cytosol [GO:0099523]; protein-containing complex [GO:0032991]; beta-tubulin binding [GO:0048487]; dynactin binding [GO:0034452]; dynein intermediate chain binding [GO:0045505]; heat shock protein binding [GO:0031072]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; kinase binding [GO:0019900]; p53 binding [GO:0002039]; profilin binding [GO:0005522]; apoptotic process [GO:0006915]; establishment of mitotic spindle orientation [GO:0000132]; Golgi organization [GO:0007030]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; positive regulation of aggrephagy [GO:1905337]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy of mitochondrion [GO:1903599]; positive regulation of cilium assembly [GO:0045724]; positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0031587]; positive regulation of lipophagy [GO:1904504]; protein destabilization [GO:0031648]; regulation of CAMKK-AMPK signaling cascade [GO:1905289]; regulation of cAMP-dependent protein kinase activity [GO:2000479]; regulation of phosphoprotein phosphatase activity [GO:0043666]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle transport along microtubule [GO:0047496]; vocal learning [GO:0042297]

snps:
rs768047421 rs363075 rs35892913 rs1143646 rs3025843 rs34315806 rs3025837 rs3025837 rs363125 rs1143648 rs362331 rs1085307052 rs362272 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:7647777}. Nucleus {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16391387}. Note=The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner. {ECO:0000269|PubMed:15654337}.


uniprotID: Q7Z4Q2
geneSymbol: HEATR3
name: HEAT repeat-containing protein 3
length: 680
go: ENSG00000155393;
snps: rs34703459
sequence:

opentargets:
intracellular [GO:0005622]; unfolded protein binding [GO:0051082]; protein import into nucleus [GO:0006606]; ribosomal large subunit biogenesis [GO:0042273]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z4Q2-1; Sequence=Displayed; Name=2; IsoId=Q7Z4Q2-2; Sequence=VSP_009640; Name=3; IsoId=Q7Z4Q2-3; Sequence=VSP_009640, VSP_009641, VSP_009642; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: A2RTY3
geneSymbol: HEATR9
name: Protein HEATR9 (HEAT repeat-containing protein 9)
length: 570
go: ENSG00000270379;
opentargets: hematopoietic progenitor cell differentiation [GO:0002244]
snps: rs2306630
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A2RTY3-1; Sequence=Displayed; Name=2; IsoId=A2RTY3-2; Sequence=VSP_025349, VSP_025350; Note=No experimental confirmation available.; Name=3; IsoId=A2RTY3-3; Sequence=VSP_036494; Name=4; IsoId=A2RTY3-4; Sequence=VSP_036493, VSP_036495, VSP_036496; Name=5; IsoId=A2RTY3-5; Sequence=VSP_036493, VSP_036494, VSP_036495, VSP_036496; 


uniprotID: Q9Y5Z4
geneSymbol: HEBP2
reactome: R-HSA-6798695;
pdb: 3R85;3R8J;3R8K;4AYZ;4B0Y;5GQQ;
name: Heme-binding protein 2 (Placental protein 23) (PP23) (Protein SOUL)
length: 205
go: ENSG00000051620;
snps: rs3734303 rs14812
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; mitochondrion [GO:0005739]; heme binding [GO:0020037]; negative regulation of mitochondrial membrane potential [GO:0010917]; neutrophil degranulation [GO:0043312]; positive regulation of mitochondrial membrane permeability [GO:0035794]; positive regulation of necrotic cell death [GO:0010940]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5Z4-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Z4-2; Sequence=VSP_017057; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17098234}. Mitochondrion {ECO:0000269|PubMed:17098234}. Note=Mainly localized to the cytoplasm with a much lower abundance in the mitochondrion. {ECO:0000269|PubMed:17098234}.


