# annotation

uniprotID: Q96IM9
geneSymbol: DYDC2
name: DPY30 domain-containing protein 2
length: 177
go: ENSG00000133665;
opentargets: Set1C/COMPASS complex [GO:0048188]; histone H3-K4 methylation [GO:0051568]
snps: rs1047951
sequence:
METNYLKRCFGNCLAQALAEVAKVRPSDPIEYLAHWLYHYRKTAKAKEENREKKIHLQEEYDSSLKEMEMTEMLKQEEYQIQQNCEKCHKELTSETVSTKKTIFMQEDTNPLEKEALKQEFLPGTSSLIPGMPQQVPPSESAGQIDQNFKMPQEINYKEAFQHEVAHEMPPGSKSPF


uniprotID: Q9UBX2
geneSymbol: DUX4
pdb: 5Z2S;5Z2T;6DFY;
name: Double homeobox protein 4 (Double homeobox protein 10)
length: 424
go: ENSG00000260596;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; apoptotic process [GO:0006915]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G0 to G1 transition [GO:0070317]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:15709750, ECO:0000269|PubMed:21060811}. Note=Actively transported through the nuclear pore complex (NPC).


uniprotID: Q86Y01
geneSymbol: DTX1
reactome: R-HSA-2122948;
length: 620
go: ENSG00000135144;
name:
E3 ubiquitin-protein ligase DTX1 (EC 2.3.2.27) (Protein deltex-1) (Deltex1) (hDTX1) (RING-type E3 ubiquitin transferase DTX1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; Notch binding [GO:0005112]; SH3 domain binding [GO:0017124]; transcription coactivator activity [GO:0003713]; transferase activity [GO:0016740]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; cell surface receptor signaling pathway [GO:0007166]; cellular response to leukemia inhibitory factor [GO:1990830]; glial cell differentiation [GO:0010001]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of T cell differentiation [GO:0045581]; Notch signaling pathway [GO:0007219]; protein ubiquitination [GO:0016567]; regulation of Notch signaling pathway [GO:0008593]; transcription by RNA polymerase II [GO:0006366]; transcription, DNA-templated [GO:0006351]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Associates with endocytic vesicles. Partially nuclear.


uniprotID: O60469
geneSymbol: DSCAM
reactome: R-HSA-376172;
name: Down syndrome cell adhesion molecule (CHD2)
length: 2012
go: ENSG00000171587;
snps: rs2297270
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; extracellular region [GO:0005576]; growth cone [GO:0030426]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; synapse [GO:0045202]; cell-cell adhesion mediator activity [GO:0098632]; axon guidance [GO:0007411]; camera-type eye photoreceptor cell differentiation [GO:0060219]; cell adhesion [GO:0007155]; dendrite morphogenesis [GO:0048813]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; locomotory behavior [GO:0007626]; negative regulation of cell adhesion [GO:0007162]; nervous system development [GO:0007399]; positive regulation of axon extension involved in axon guidance [GO:0048842]; positive regulation of phosphorylation [GO:0042327]; post-embryonic retina morphogenesis in camera-type eye [GO:0060060]; retina layer formation [GO:0010842]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; Synonyms=CHD2-42; IsoId=O60469-1; Sequence=Displayed; Name=Short; Synonyms=CHD2-52; IsoId=O60469-2; Sequence=VSP_002502, VSP_002503; 

location:
SUBCELLULAR LOCATION: Isoform Short: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform Long: Cell membrane {ECO:0000250|UniProtKB:Q9ERC8}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q9ERC8}. Cell projection, axon {ECO:0000250|UniProtKB:Q9ERC8}. Cell junction, synapse {ECO:0000250|UniProtKB:F1NY98}. Note=Localized in the soma, cell membrane, axon and growth cone of dissociated commissural axons. {ECO:0000250|UniProtKB:Q9ERC8}.


uniprotID: Q8IZU8
geneSymbol: DSEL
reactome: R-HSA-2022923;
name: Dermatan-sulfate epimerase-like protein (EC 5.1.-.-)
length: 1212
snps: rs2279269 rs12953840 rs35479856
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; chondroitin-glucuronate 5-epimerase activity [GO:0047757]; sulfotransferase activity [GO:0008146]; chondroitin sulfate metabolic process [GO:0030204]; dermatan sulfate biosynthetic process [GO:0030208]


uniprotID: O14641
geneSymbol: DVL2
pdb: 2REY;3CBX;3CBY;3CBZ;3CC0;4WIP;5LNP;5SUY;5SUZ;
name: Segment polarity protein dishevelled homolog DVL-2 (Dishevelled-2) (DSH homolog 2)
length: 736
go: ENSG00000004975;
reactome:
R-HSA-201681;R-HSA-201688;R-HSA-2028269;R-HSA-4086400;R-HSA-4608870;R-HSA-4641258;R-HSA-4641262;R-HSA-5099900;R-HSA-5368598;R-HSA-5663220;R-HSA-8856825;R-HSA-8856828;

sequence:

opentargets:
aggresome [GO:0016235]; apical part of cell [GO:0045177]; clathrin-coated endocytic vesicle [GO:0045334]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; lateral plasma membrane [GO:0016328]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; frizzled binding [GO:0005109]; identical protein binding [GO:0042802]; protein binding, bridging [GO:0030674]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein self-association [GO:0043621]; Rac GTPase binding [GO:0048365]; beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in regulation of cell proliferation [GO:0044340]; cellular protein localization [GO:0034613]; cochlea morphogenesis [GO:0090103]; convergent extension involved in neural plate elongation [GO:0022007]; heart development [GO:0007507]; hippo signaling [GO:0035329]; membrane organization [GO:0061024]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; neural tube closure [GO:0001843]; non-canonical Wnt signaling pathway [GO:0035567]; outflow tract morphogenesis [GO:0003151]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of GTPase activity [GO:0043547]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of transcription, DNA-templated [GO:0045893]; protein complex oligomerization [GO:0051259]; segment specification [GO:0007379]; transcription by RNA polymerase II [GO:0006366]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q60838}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q60838}; Cytoplasmic side {ECO:0000250|UniProtKB:Q60838}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q60838}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q60838}. Nucleus {ECO:0000269|PubMed:25805136}. Note=Localizes at the cell membrane upon interaction with frizzled family members and promotes their internalization. Localizes to cytoplasmic puncta (By similarity). Interaction with FOXK1 and FOXK2 induces nuclear translocation (PubMed:25805136). {ECO:0000250|UniProtKB:Q60838, ECO:0000269|PubMed:25805136}.


uniprotID: Q9HAF1
geneSymbol: MEAF6
reactome: R-HSA-3214847;R-HSA-6804758;
length: 191
go: ENSG00000163875;
name:
Chromatin modification-related protein MEAF6 (MYST/Esa1-associated factor 6) (Esa1-associated factor 6 homolog) (Protein EAF6 homolog) (hEAF6) (Sarcoma antigen NY-SAR-91)

sequence:
MAMHNKAAPPQIPDTRRELAELVKRKQELAETLANLERQIYAFEGSYLEDTQMYGNIIRGWDRYLTNQKNSNSKNDRRNRKFKEAERLFSKSSVTSAAAVSALAGVQDQLIEKREPGSGTESDTSPDFHNQENEPSQEDPEDLDGSVQGVKPQKAASSTSSGSHHSSHKKRKNKNRHRIDLKLNKKPRADY

opentargets:
condensed chromosome kinetochore [GO:0000777]; kinetochore [GO:0000776]; MOZ/MORF histone acetyltransferase complex [GO:0070776]; NuA3a histone acetyltransferase complex [GO:1990467]; NuA3b histone acetyltransferase complex [GO:1990468]; NuA4 histone acetyltransferase complex [GO:0035267]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; histone H2A acetylation [GO:0043968]; histone H3-K14 acetylation [GO:0044154]; histone H3-K23 acetylation [GO:0043972]; histone H4-K12 acetylation [GO:0043983]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HAF1-1; Sequence=Displayed; Name=2; IsoId=Q9HAF1-2; Sequence=VSP_022450; Note=No experimental confirmation available.; Name=3; IsoId=Q9HAF1-3; Sequence=VSP_022451; Note=No experimental confirmation available.; Name=4; IsoId=Q9HAF1-4; Sequence=VSP_047018; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:18794358}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.


uniprotID: A0AVK6
geneSymbol: E2F8
reactome: R-HSA-6804116;
pdb: 4YO2;
name: Transcription factor E2F8 (E2F-8)
length: 867
go: ENSG00000129173;
snps: rs793274
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15897886}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; 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]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell cycle comprising mitosis without cytokinesis [GO:0033301]; cell proliferation [GO:0008283]; chorionic trophoblast cell differentiation [GO:0060718]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; hepatocyte differentiation [GO:0070365]; negative regulation of cytokinesis [GO:0032466]; negative regulation of transcription by RNA polymerase II [GO:0000122]; placenta development [GO:0001890]; positive regulation of DNA endoreduplication [GO:0032877]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]; sprouting angiogenesis [GO:0002040]; trophoblast giant cell differentiation [GO:0060707]


uniprotID: Q8WTR2
geneSymbol: DUSP19
pdb: 3S4E;4D3P;4D3Q;4D3R;
length: 217
go: ENSG00000162999;
snps: rs16823987
name:
Dual specificity protein phosphatase 19 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity phosphatase TS-DSP1) (Low molecular weight dual specificity phosphatase 3) (LMW-DSP3) (Protein phosphatase SKRP1) (Stress-activated protein kinase pathway-regulating phosphatase 1) (SAPK pathway-regulating phosphatase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; JUN kinase phosphatase activity [GO:0008579]; MAP-kinase scaffold activity [GO:0005078]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein kinase activator activity [GO:0030295]; protein kinase inhibitor activity [GO:0004860]; protein tyrosine phosphatase activity [GO:0004725]; negative regulation of JNK cascade [GO:0046329]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of protein kinase activity [GO:0045860]; regulation of MAP kinase activity [GO:0043405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q8WTR2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q8WTR2-2; Sequence=VSP_005138; 


uniprotID: Q8TDB6
geneSymbol: DTX3L
reactome: R-HSA-983168;
pdb: 3PG6;
length: 740
go: ENSG00000163840;
snps: rs2332285 rs9868175
name:
E3 ubiquitin-protein ligase DTX3L (EC 2.3.2.27) (B-lymphoma- and BAL-associated protein) (Protein deltex-3-like) (RING-type E3 ubiquitin transferase DTX3L) (Rhysin-2) (Rhysin2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; STAT family protein binding [GO:0097677]; ubiquitin-like protein ligase binding [GO:0044389]; ubiquitin-protein transferase activity [GO:0004842]; cellular response to DNA damage stimulus [GO:0006974]; defense response to virus [GO:0051607]; double-strand break repair [GO:0006302]; endosome to lysosome transport [GO:0008333]; histone H2A ubiquitination [GO:0033522]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; innate immune response [GO:0045087]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; Notch signaling pathway [GO:0007219]; positive regulation of chromatin binding [GO:0035563]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; positive regulation of NAD+ ADP-ribosyltransferase activity [GO:1901666]; positive regulation of protein binding [GO:0032092]; positive regulation of protein localization to early endosome [GO:1902966]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of receptor catabolic process [GO:2000646]; positive regulation of transcription, DNA-templated [GO:0045893]; protein autoubiquitination [GO:0051865]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; protein transport [GO:0015031]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDB6-1; Sequence=Displayed; Name=2; IsoId=Q8TDB6-2; Sequence=VSP_038522; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:26479788}. Nucleus {ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:26479788}. Early endosome membrane {ECO:0000269|PubMed:24790097}; Peripheral membrane protein {ECO:0000305|PubMed:24790097}; Cytoplasmic side {ECO:0000305|PubMed:24790097}. Lysosome membrane {ECO:0000269|PubMed:24790097}; Peripheral membrane protein {ECO:0000305|PubMed:24790097}; Cytoplasmic side {ECO:0000305|PubMed:24790097}. Note=Translocates to the nucleus in response to IFNG or IFNB1 stimulation (PubMed:26479788). Localizes at sites of DNA damage in a PARP1-dependent manner (PubMed:23230272). Localization to early endosomes is increased upon CXCL12 stimulation where it co-localizes with ITCH, CXCL4, HGS and STAM (PubMed:24790097). A minor proportion localizes to lysosomes (PubMed:24790097). {ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:26479788}.


uniprotID: Q7L9B9
geneSymbol: EEPD1
name: Endonuclease/exonuclease/phosphatase family domain-containing protein 1
length: 569
go: ENSG00000122547;
opentargets: DNA binding [GO:0003677]; DNA repair [GO:0006281]
snps: rs196586 rs3815682 rs196594
sequence:


uniprotID: P0CJ86
geneSymbol: DUX4L3
name: Double homeobox protein 4-like protein 3
length: 424
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]


uniprotID: Q16690
geneSymbol: DUSP5
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 2G6Z;
length: 384
go: ENSG00000138166;
snps: rs2282238 rs1889566 rs1889565 rs35101549
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Dual specificity protein phosphatase 5 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase hVH3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; activation of MAPK activity [GO:0000187]; dephosphorylation [GO:0016311]; inactivation of MAPK activity [GO:0000188]; MAPK cascade [GO:0000165]; peptidyl-threonine dephosphorylation [GO:0035970]; peptidyl-tyrosine dephosphorylation [GO:0035335]; protein dephosphorylation [GO:0006470]


uniprotID: Q86YF9
geneSymbol: DZIP1
reactome: R-HSA-5632684;
name: Zinc finger protein DZIP1 (DAZ-interacting protein 1/2)
length: 867
go: ENSG00000134874;
snps: rs9561921 rs34303958 rs11070136
sequence:

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; ciliary transition fiber [GO:0097539]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; cilium assembly [GO:0060271]; cytoplasmic sequestering of protein [GO:0051220]; establishment of protein localization [GO:0045184]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; positive regulation of cilium assembly [GO:0045724]; protein localization to cilium [GO:0061512]; regulation of protein binding [GO:0043393]; smoothened signaling pathway [GO:0007224]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=DZIPt2, DZIP testis 2; IsoId=Q86YF9-1; Sequence=Displayed; Name=2; Synonyms=DZIPt1, DZIP testis 1; IsoId=Q86YF9-2; Sequence=VSP_010965; Name=3; Synonyms=DZIPb, DZIP brain; IsoId=Q86YF9-3; Sequence=VSP_010962, VSP_010963, VSP_010964; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15081113}. Cytoplasm {ECO:0000269|PubMed:15081113}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19852954}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:19852954}. Note=In testis, it is predominantly nuclear, with some cytoplasmic localization in spermatogonia. Colocalizes with DAZ and DAZL in primordial germ cells. {ECO:0000269|PubMed:15081113}.


uniprotID: Q86Y13
geneSymbol: DZIP3
reactome: R-HSA-983168;
length: 1208
go: ENSG00000198919;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12538761}.
name:
E3 ubiquitin-protein ligase DZIP3 (EC 2.3.2.27) (DAZ-interacting protein 3) (RING-type E3 ubiquitin transferase DZIP3) (RNA-binding ubiquitin ligase of 138 kDa) (hRUL138)

sequence:

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; phosphatase binding [GO:0019902]; polyubiquitin modification-dependent protein binding [GO:0031593]; RNA binding [GO:0003723]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86Y13-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q86Y13-2; Sequence=VSP_010971, VSP_010972; 


uniprotID: Q9Y463
geneSymbol: DYRK1B
length: 629
go: ENSG00000105204;
snps: rs34587974 rs587777380 rs367643250 rs55687541 rs35858874
location: SUBCELLULAR LOCATION: Nucleus.
name:
Dual specificity tyrosine-phosphorylation-regulated kinase 1B (EC 2.7.12.1) (Minibrain-related kinase) (Mirk protein kinase)

sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; transcription coactivator activity [GO:0003713]; adipose tissue development [GO:0060612]; myoblast fusion [GO:0007520]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y463-1; Sequence=Displayed; Name=2; IsoId=Q9Y463-2; Sequence=VSP_004925; Name=3; IsoId=Q9Y463-3; Sequence=VSP_004926; 


uniprotID: Q9BSW2
geneSymbol: CRACR2A
reactome: R-HSA-6798695;
length: 395
go: ENSG00000130038;
snps: rs9788233 rs17836273 rs242017 rs34088152 rs242018 rs36030417
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20418871}.
name:
EF-hand calcium-binding domain-containing protein 4B (Calcium release-activated calcium channel regulator 2A) (CRAC channel regulator 2A) (Calcium release-activated channel regulator 2A)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane [GO:0016020]; specific granule lumen [GO:0035580]; calcium ion binding [GO:0005509]; activation of store-operated calcium channel activity [GO:0032237]; adaptive immune response [GO:0002250]; neutrophil degranulation [GO:0043312]; positive regulation of calcium ion transport [GO:0051928]; store-operated calcium entry [GO:0002115]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSW2-1; Sequence=Displayed; Name=2; IsoId=Q9BSW2-2; Sequence=VSP_039546; Note=No experimental confirmation available.; 


uniprotID: Q9NVP4
geneSymbol: DZANK1
name: Double zinc ribbon and ankyrin repeat-containing protein 1
length: 752
go: ENSG00000089091;
opentargets: metal ion binding [GO:0046872]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NVP4-1; Sequence=Displayed; Name=2; IsoId=Q9NVP4-2; Sequence=VSP_042090, VSP_042093, VSP_042095; Note=No experimental confirmation available.; Name=3; IsoId=Q9NVP4-3; Sequence=VSP_042096, VSP_042097; Name=4; IsoId=Q9NVP4-4; Sequence=VSP_042091, VSP_042092; Name=5; IsoId=Q9NVP4-5; Sequence=VSP_042094; 


uniprotID: O75319
geneSymbol: DUSP11
pdb: 4JMJ;4MBB;4NYH;
length: 377
go: ENSG00000144048;
name:
RNA/RNP complex-1-interacting phosphatase (EC 3.1.3.-) (Dual specificity protein phosphatase 11) (Phosphatase that interacts with RNA/RNP complex 1)

sequence:

opentargets:
fibrillar center [GO:0001650]; intercellular bridge [GO:0045171]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; nucleotide phosphatase activity, acting on free nucleotides [GO:0098519]; phosphatase activity [GO:0016791]; polynucleotide 5'-phosphatase activity [GO:0004651]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; RNA binding [GO:0003723]; polynucleotide 5' dephosphorylation [GO:0098507]; protein dephosphorylation [GO:0006470]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75319-1; Sequence=Displayed; Name=2; IsoId=O75319-2; Sequence=VSP_014136, VSP_014137; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9685386}. Nucleus speckle {ECO:0000269|PubMed:9685386}.


uniprotID: P0DPQ6
geneSymbol: DDIT3
name: DDIT3 upstream open reading frame protein (Alternative DDIT3 protein) (AltDDIT3)
sequence: MLKMSGWQRQSQNQSWNLRRECSRRKCIFIHHHT
length: 34
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=AltDDIT3 {ECO:0000303|PubMed:29083303}; IsoId=P0DPQ6-1; Sequence=Displayed; Note=Product of the upstream open reading frame of this bicistronic gene. {ECO:0000305|PubMed:29083303}; Name=1; IsoId=P35638-1; Sequence=External; Name=2; IsoId=P35638-2; Sequence=External; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29083303}. Cytoplasm {ECO:0000269|PubMed:29083303}.


uniprotID: Q05923
geneSymbol: DUSP2
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 1M3G;
length: 314
go: ENSG00000158050;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Dual specificity protein phosphatase 2 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase PAC-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; mitogen-activated protein kinase binding [GO:0051019]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; protein tyrosine/threonine phosphatase activity [GO:0008330]; inactivation of MAPK activity [GO:0000188]; protein dephosphorylation [GO:0006470]


uniprotID: P51808
geneSymbol: DYNLT3
name: Dynein light chain Tctex-type 3 (Protein 91/23) (T-complex-associated testis-expressed 1-like)
length: 116
go: ENSG00000165169;
sequence:
MEEYHRHCDEVGFNAEEAHNIVKECVDGVLGGEDYNHNNINQWTASIVEQSLTHLVKLGKAYKYIVTCAVVQKSAYGFHTASSCFWDTTSDGTCTVRWENRTMNCIVNVFAIAIVL

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasmic dynein complex [GO:0005868]; mitotic spindle astral microtubule [GO:0061673]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; motor activity [GO:0003774]; cell cycle [GO:0007049]; cell division [GO:0051301]; positive regulation of mitotic cell cycle [GO:0045931]; regulation of mitotic cell cycle [GO:0007346]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton. Chromosome, centromere, kinetochore. Note=Colocalizes with BUB3 at kinetochores specifically during prometaphase.


uniprotID: Q86UW9
geneSymbol: DTX2
reactome: R-HSA-2122948;
length: 622
go: ENSG00000091073;
snps: rs2462312 rs1638152 rs6979487
name:
Probable E3 ubiquitin-protein ligase DTX2 (EC 2.3.2.27) (Protein deltex-2) (Deltex2) (hDTX2) (RING finger protein 58) (RING-type E3 ubiquitin transferase DTX2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; Notch signaling pathway [GO:0007219]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=Q86UW9-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q86UW9-2; Sequence=VSP_008350; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11564735}. Nucleus {ECO:0000269|PubMed:11564735}. Note=Predominantly cytoplasmic. Partially nuclear. {ECO:0000269|PubMed:11564735}.


uniprotID: Q9HCS5
geneSymbol: EPB41L4A
name: Band 4.1-like protein 4A (Protein NBL4)
length: 686
go: ENSG00000129595;
snps: rs34008454
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytoskeletal protein binding [GO:0008092]; actomyosin structure organization [GO:0031032]


uniprotID: Q9BY08
geneSymbol: EBPL
name: Emopamil-binding protein-like (Emopamil-binding-related protein)
length: 206
go: ENSG00000123179;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; cholestenol delta-isomerase activity [GO:0047750]; sterol metabolic process [GO:0016125]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BY08-1; Sequence=Displayed; Name=2; IsoId=Q9BY08-2; Sequence=VSP_035418, VSP_035425; Note=No experimental confirmation available.; Name=3; IsoId=Q9BY08-3; Sequence=VSP_035417, VSP_035422; Note=No experimental confirmation available.; Name=4; IsoId=Q9BY08-4; Sequence=VSP_035419, VSP_035421; Note=No experimental confirmation available.; Name=5; IsoId=Q9BY08-5; Sequence=VSP_035420, VSP_035423, VSP_035424; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12760743}; Multi-pass membrane protein {ECO:0000269|PubMed:12760743}.


uniprotID: P0CF75
geneSymbol: EBLN1
name: Endogenous Bornavirus-like nucleoprotein 1 (Endogenous Borna-like N element-1) (EBLN-1)
length: 366
go: ENSG00000223601;
sequence:


uniprotID: P0DN84
sequence: MAEKGSTFSHLLVPILLLIGWIVGCIIMIYVVFS
length: 34
name:
Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF (SERCA regulator DWORF) (Dwarf open reading frame) (DWORF)

opentargets:
integral component of membrane [GO:0016021]; sarcoplasmic reticulum membrane [GO:0033017]; enzyme activator activity [GO:0008047]; positive regulation of calcium ion import into sarcoplasmic reticulum [GO:1902082]; regulation of calcium-transporting ATPase activity [GO:1901894]; regulation of slow-twitch skeletal muscle fiber contraction [GO:0031449]

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:P0DN83}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q66K89
geneSymbol: E4F1
length: 784
go: ENSG00000167967;
snps: rs26839 rs59784157
name:
Transcription factor E4F1 (EC 2.3.2.27) (E4F transcription factor 1) (Putative E3 ubiquitin-protein ligase E4F1) (RING-type E3 ubiquitin transferase E4F1) (Transcription factor E4F) (p120E4F) (p50E4F)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; spindle [GO:0005819]; cAMP response element binding [GO:0035497]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transferase activity [GO:0016740]; cell division [GO:0051301]; cell proliferation [GO:0008283]; DNA replication [GO:0006260]; mitotic cell cycle arrest [GO:0071850]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein ubiquitination [GO:0016567]; regulation of cell cycle process [GO:0010564]; regulation of growth [GO:0040008]; regulation of mitotic cell cycle, embryonic [GO:0009794]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Cytoplasm. Note=A small fraction is detected in the cytoplasm. Excluded from the nucleolus where it is targeted upon CDKN2A overexpression. Localizes to the mitotic spindle during embryogenesis. {ECO:0000250}.


uniprotID: Q96T75
geneSymbol: DSCR8
sequence: MKEPGPNFVTVRKGLHSFKMAFVKHLLLFLSPRLECSGSITDHCSLHLPVQEILMSQPPEQLGLQTNLGNQESSGMMKLFMPRPKVLAQYESIQFMP
length: 97
name:
Down syndrome critical region protein 8 (Cancer/testis antigen 25) (CT25) (DCR1-24.0) (Malignant melanoma-associated protein 1) (MMA-1) (Protein MTAG2)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=MTAG5, MMA1C {ECO:0000303|PubMed:15472897}; IsoId=Q96T75-1; Sequence=Displayed; Note=Predominantly expressed in the testis. {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}; Name=2; Synonyms=MTAG6, MMA1F {ECO:0000303|PubMed:15472897}; IsoId=Q96T75-2; Sequence=VSP_003856, VSP_003857; Name=3; Synonyms=MMA-1a, MMA1A {ECO:0000303|PubMed:11920614}; IsoId=Q96T75-3; Sequence=VSP_003858; Note=Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins. {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}; Name=4; Synonyms=MMA-1b, MMA1B {ECO:0000303|PubMed:11920614}; IsoId=Q96T75-4; Sequence=VSP_003859, VSP_003860; Note=Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins. {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}; Name=5; Synonyms=MMA1D {ECO:0000303|PubMed:15472897}; IsoId=Q96T75-5; Sequence=VSP_059067; Note=Predominantly expressed in the testis. {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}; Name=6; Synonyms=MMA1E {ECO:0000303|PubMed:15472897}; IsoId=Q96T75-6; Sequence=VSP_059066; Note=Predominantly expressed in the testis. {ECO:0000269|PubMed:11920614, ECO:0000269|PubMed:15472897}; 


uniprotID: Q9NX74
geneSymbol: DUS2
reactome: R-HSA-6782315;
pdb: 4WFS;4WFT;4XP7;6EZA;6EZB;6EZC;
length: 493
go: ENSG00000167264;
name:
tRNA-dihydrouridine(20) synthase [NAD(P)+]-like (EC 1.3.1.-) (Dihydrouridine synthase 2) (Up-regulated in lung cancer protein 8) (URLC8) (tRNA-dihydrouridine synthase 2-like) (hDUS2)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; double-stranded RNA binding [GO:0003725]; flavin adenine dinucleotide binding [GO:0050660]; protein kinase inhibitor activity [GO:0004860]; tRNA dihydrouridine synthase activity [GO:0017150]; negative regulation of cell death [GO:0060548]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15994936}. Endoplasmic reticulum {ECO:0000269|PubMed:15994936}. Note=Mainly at the endoplasmic reticulum.


uniprotID: Q9UL01
geneSymbol: DSE
reactome: R-HSA-2022923;
length: 958
go: ENSG00000111817;
snps: rs10485183 rs35548455 rs398122361 rs34994230
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Dermatan-sulfate epimerase (DS epimerase) (EC 5.1.3.19) (Chondroitin-glucuronate 5-epimerase) (Squamous cell carcinoma antigen recognized by T-cells 2) (SART-2)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; chondroitin-glucuronate 5-epimerase activity [GO:0047757]; chondroitin sulfate biosynthetic process [GO:0030206]; dermatan sulfate biosynthetic process [GO:0030208]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]


uniprotID: Q9P2K8
geneSymbol: EIF2AK4
length: 1649
go: ENSG00000128829;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9QZ05}.
name:
eIF-2-alpha kinase GCN2 (EC 2.7.11.1) (Eukaryotic translation initiation factor 2-alpha kinase 4) (GCN2-like protein)

sequence:

opentargets:
cytosolic ribosome [GO:0022626]; polysome [GO:0005844]; ATP binding [GO:0005524]; eukaryotic translation initiation factor 2alpha kinase activity [GO:0004694]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; tRNA binding [GO:0000049]; adaptive immune response [GO:0002250]; cell cycle arrest [GO:0007050]; cellular response to amino acid starvation [GO:0034198]; cellular response to cold [GO:0070417]; cellular response to leucine starvation [GO:1990253]; cellular response to UV [GO:0034644]; defense response to virus [GO:0051607]; DNA damage checkpoint [GO:0000077]; eiF2alpha phosphorylation in response to endoplasmic reticulum stress [GO:0036492]; induction by virus of host autophagy [GO:0039520]; learning [GO:0007612]; long-term memory [GO:0007616]; negative regulation by host of viral genome replication [GO:0044828]; negative regulation of CREB transcription factor activity [GO:0032792]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of translational initiation [GO:0045947]; negative regulation of translational initiation in response to stress [GO:0032057]; neuron projection extension [GO:1990138]; positive regulation of adaptive immune response [GO:0002821]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of translational initiation in response to starvation [GO:0071264]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of eIF2 alpha phosphorylation by amino acid starvation [GO:0060733]; regulation of feeding behavior [GO:0060259]; regulation of translational initiation [GO:0006446]; regulation of translational initiation by eIF2 alpha phosphorylation [GO:0010998]; T cell activation involved in immune response [GO:0002286]; viral translation [GO:0019081]

snps:
rs35509999 rs34439704 rs2291627 rs587777106 rs757852728 rs34665481 rs55781333 rs35602605 rs35480871 rs55721315 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2K8-1; Sequence=Displayed; Name=2; IsoId=Q9P2K8-2; Sequence=VSP_013038; Note=No experimental confirmation available.; Name=3; IsoId=Q9P2K8-3; Sequence=VSP_039185, VSP_039186; Note=No experimental confirmation available.; 


uniprotID: Q9NZJ0
geneSymbol: DTL
reactome: R-HSA-110314;R-HSA-8951664;
length: 730
go: ENSG00000143476;
snps: rs35137676 rs3135474 rs6540718
name:
Denticleless protein homolog (DDB1- and CUL4-associated factor 2) (Lethal(2) denticleless protein homolog) (Retinoic acid-regulated nuclear matrix-associated protein)

sequence:

opentargets:
centrosome [GO:0005813]; chromosome [GO:0005694]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; Cul4B-RING E3 ubiquitin ligase complex [GO:0031465]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cellular response to DNA damage stimulus [GO:0006974]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of protein catabolic process [GO:0045732]; post-translational protein modification [GO:0043687]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; regulation of cell cycle [GO:0051726]; response to UV [GO:0009411]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]; translesion synthesis [GO:0019985]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZJ0-1; Sequence=Displayed; Name=2; IsoId=Q9NZJ0-2; Sequence=VSP_022879, VSP_022880, VSP_022881; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome. Note=Nuclear matrix-associated protein. Translocates from the interphase nucleus to the metaphase cytoplasm during mitosis.


uniprotID: Q9H596
geneSymbol: DUSP21
length: 190
go: ENSG00000189037;
snps: rs1372839121 rs1045031
name:
Dual specificity protein phosphatase 21 (EC 3.1.3.16) (EC 3.1.3.48) (Low molecular weight dual specificity phosphatase 21) (LMW-DSP21)

sequence:
MTASASSFSSSQGVQQPSIYSFSQITRSLFLSNGVAANDKLLLSSNRITAIVNASVEVVNVFFEGIQYIKVPVTDARDSRLYDFFDPIADLIHTIDMRQGRTLLHCMAGVSRSASLCLAYLMKYHSMSLLDAHTWTKSRRPIIRPNNGFWEQLINYEFKLFNNNTVRMINSPVGNIPDIYEKDLRMMISM

opentargets:
cytoplasm [GO:0005737]; extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrial matrix [GO:0005759]; nucleus [GO:0005634]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; protein tyrosine phosphatase activity [GO:0004725]; peptidyl-tyrosine dephosphorylation [GO:0035335]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12408986}. Nucleus {ECO:0000269|PubMed:12408986}. Mitochondrion inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.


uniprotID: Q9NRR1
geneSymbol: CYTL1
name: Cytokine-like protein 1 (Protein C17)
length: 136
go: ENSG00000170891;
snps: rs35755546 rs11722554
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10857752}.
sequence:
MRTPGPLPVLLLLLAGAPAARPTPPTCYSRMRALSQEITRDFNLLQVSEPSEPCVRYLPRLYLDIHNYCVLDKLRDFVASPPCWKVAQVDSLKDKARKLYTIMNSFCRRDLVFLLDDCNALEYPIPVTTVLPDRQR

opentargets:
extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]; cartilage homeostasis [GO:1990079]; chondrocyte differentiation [GO:0002062]; chondroitin sulfate proteoglycan biosynthetic process [GO:0050650]; inner ear development [GO:0048839]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction [GO:0007165]


uniprotID: P56937
geneSymbol: HSD17B7
reactome: R-HSA-191273;
length: 341
go: ENSG00000132196;
drug: DB00157;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein.
name:
3-keto-steroid reductase (EC 1.1.1.270) (17-beta-hydroxysteroid dehydrogenase 7) (17-beta-HSD 7) (Estradiol 17-beta-dehydrogenase 7) (EC 1.1.1.62) (Short chain dehydrogenase/reductase family 37C member 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 3-keto sterol reductase activity [GO:0000253]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; cholesterol biosynthetic process [GO:0006695]; estrogen biosynthetic process [GO:0006703]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P56937-1; Sequence=Displayed; Name=2; IsoId=P56937-2; Sequence=VSP_006029; Name=3; IsoId=P56937-3; Sequence=VSP_012766; 


uniprotID: Q8NBQ5
geneSymbol: HSD17B11
reactome: R-HSA-193144;
pdb: 1YB1;
length: 300
drug: DB02854;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Estradiol 17-beta-dehydrogenase 11 (EC 1.1.1.62) (17-beta-hydroxysteroid dehydrogenase 11) (17-beta-HSD 11) (17bHSD11) (17betaHSD11) (17-beta-hydroxysteroid dehydrogenase XI) (17-beta-HSD XI) (17betaHSDXI) (Cutaneous T-cell lymphoma-associated antigen HD-CL-03) (CTCL-associated antigen HD-CL-03) (Dehydrogenase/reductase SDR family member 8) (Retinal short-chain dehydrogenase/reductase 2) (retSDR2) (Short chain dehydrogenase/reductase family 16C member 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; lipid droplet [GO:0005811]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; steroid dehydrogenase activity [GO:0016229]; androgen catabolic process [GO:0006710]; estrogen biosynthetic process [GO:0006703]


uniprotID: O43323
geneSymbol: DHH
reactome: R-HSA-373080;R-HSA-5358346;R-HSA-5362798;R-HSA-5632681;R-HSA-5632684;R-HSA-5635838;R-HSA-5658034;
pdb: 2WFQ;2WFR;2WG3;3N1G;3N1Q;
length: 396
go: ENSG00000139549;
snps: rs111033589
name:
Desert hedgehog protein (DHH) (HHG-3) [Cleaved into: Desert hedgehog protein N-product; Desert hedgehog protein C-product]

sequence:

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; peptidase activity [GO:0008233]; zinc ion binding [GO:0008270]; cell-cell signaling [GO:0007267]; multicellular organism development [GO:0007275]

location:
SUBCELLULAR LOCATION: Desert hedgehog protein N-product: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Extracellular side {ECO:0000250}. Note=The N-terminal peptide remains associated with the cell surface. {ECO:0000250}.; SUBCELLULAR LOCATION: Desert hedgehog protein C-product: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.


uniprotID: P28845
geneSymbol: HSD11B1
reactome: R-HSA-194002;
length: 292
go: ENSG00000117594;
drug: DB07049;DB03461;DB03814;DB02329;DB05064;DB00157;DB00635;
pdb:
1XU7;1XU9;2BEL;2ILT;2IRW;2RBE;3BYZ;3BZU;3CH6;3CZR;3D3E;3D4N;3D5Q;3EY4;3FCO;3FRJ;3H6K;3HFG;3OQ1;3PDJ;3QQP;3TFQ;4BB5;4BB6;4C7J;4C7K;4HFR;4HX5;4IJU;4IJV;4IJW;4K1L;4P38;4YYZ;5PGU;5PGV;5PGW;5PGX;5PGY;

name:
Corticosteroid 11-beta-dehydrogenase isozyme 1 (EC 1.1.1.146) (11-beta-hydroxysteroid dehydrogenase 1) (11-DH) (11-beta-HSD1) (Short chain dehydrogenase/reductase family 26C member 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 11-beta-hydroxysteroid dehydrogenase (NADP+) activity [GO:0070524]; 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity [GO:0003845]; steroid binding [GO:0005496]; glucocorticoid biosynthetic process [GO:0006704]; lung development [GO:0030324]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10497248}; Single-pass type II membrane protein {ECO:0000269|PubMed:10497248}.


uniprotID: Q96C10
geneSymbol: DHX58
reactome: R-HSA-168928;
pdb: 2RQA;2W4R;3EQT;
length: 678
go: ENSG00000108771;
snps: rs34891485 rs35118457 rs2074158 rs2074160
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19380577}.
name:
Probable ATP-dependent RNA helicase DHX58 (EC 3.6.4.13) (Probable ATP-dependent helicase LGP2) (Protein D11Lgp2 homolog) (RIG-I-like receptor 3) (RLR-3) (RIG-I-like receptor LGP2) (RLR)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; helicase activity [GO:0004386]; single-stranded RNA binding [GO:0003727]; zinc ion binding [GO:0008270]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; negative regulation of innate immune response [GO:0045824]; negative regulation of MDA-5 signaling pathway [GO:0039534]; negative regulation of RIG-I signaling pathway [GO:0039536]; negative regulation of type I interferon production [GO:0032480]; positive regulation of MDA-5 signaling pathway [GO:1900245]; positive regulation of RIG-I signaling pathway [GO:1900246]; positive regulation of type I interferon production [GO:0032481]; regulation of innate immune response [GO:0045088]; response to bacterium [GO:0009617]; response to virus [GO:0009615]; viral process [GO:0016032]


uniprotID: Q8TF46
geneSymbol: DIS3L
name: DIS3-like exonuclease 1 (EC 3.1.13.-)
length: 1054
go: ENSG00000166938;
snps: rs34668776 rs3803412 rs17258507
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389}.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; exosome (RNase complex) [GO:0000178]; nuclear exosome (RNase complex) [GO:0000176]; plasma membrane [GO:0005886]; 3'-5'-exoribonuclease activity [GO:0000175]; endonuclease activity [GO:0004519]; enzyme binding [GO:0019899]; RNA binding [GO:0003723]; RNA catabolic process [GO:0006401]; rRNA catabolic process [GO:0016075]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TF46-1; Sequence=Displayed; Name=2; IsoId=Q8TF46-2; Sequence=VSP_030366; Note=No experimental confirmation available.; Name=3; IsoId=Q8TF46-3; Sequence=VSP_030368, VSP_030369; Note=No experimental confirmation available.; Name=4; IsoId=Q8TF46-4; Sequence=VSP_030367; Note=No experimental confirmation available.; 


uniprotID: Q9BTC0
geneSymbol: DIDO1
reactome: R-HSA-1221632;
pdb: 2M3H;4L7X;
name: Death-inducer obliterator 1 (DIO-1) (hDido1) (Death-associated transcription factor 1) (DATF-1)
length: 2240
go: ENSG00000101191;
snps: rs6090161 rs6090160 rs1883848 rs1883847 rs750077 rs6011441 rs41282984
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; spindle [GO:0005819]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; apoptotic signaling pathway [GO:0097190]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; Synonyms=DIDO3; IsoId=Q9BTC0-4; Sequence=Displayed; Name=1; Synonyms=DIDO2; IsoId=Q9BTC0-1; Sequence=VSP_017225, VSP_017226; Name=2; Synonyms=DIDO1; IsoId=Q9BTC0-2; Sequence=VSP_007209, VSP_007210; Note=No experimental confirmation available. {ECO:0000305}; Name=3; Synonyms=a; IsoId=Q9BTC0-3; Sequence=VSP_007211, VSP_007212; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00651}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:23831028}. Note=Translocates to the nucleus after pro-apoptotic stimuli (By similarity). Translocates to the mitotic spindle upon loss of interaction with H3K4me3 during early mitosis. {ECO:0000250}.


uniprotID: P49366
geneSymbol: DHPS
reactome: R-HSA-204626;
pdb: 1DHS;1RLZ;1ROZ;1RQD;
name: Deoxyhypusine synthase (DHS) (EC 2.5.1.46)
length: 369
go: ENSG00000095059;
drug: DB03639;
snps: rs10425108
sequence:

opentargets:
cytosol [GO:0005829]; deoxyhypusine synthase activity [GO:0034038]; identical protein binding [GO:0042802]; peptidyl-lysine modification to peptidyl-hypusine [GO:0008612]; positive regulation of cell proliferation [GO:0008284]; spermidine metabolic process [GO:0008216]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P49366-1; Sequence=Displayed; Name=Short; IsoId=P49366-2; Sequence=VSP_001351; Note=Inactive.; Name=3; IsoId=P49366-3; Sequence=VSP_047564; Note=No experimental confirmation available.; 


uniprotID: O00548
geneSymbol: DLL1
reactome: R-HSA-2122948;R-HSA-2644606;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-9013507;
pdb: 4XBM;
name: Delta-like protein 1 (Drosophila Delta homolog 1) (Delta1) (H-Delta-1)
length: 723
go: ENSG00000198719;
snps: rs16901311
sequence:

opentargets:
adherens junction [GO:0005912]; apical plasma membrane [GO:0016324]; cytoplasmic vesicle [GO:0031410]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; Notch binding [GO:0005112]; scaffold protein binding [GO:0097110]; Tat protein binding [GO:0030957]; astrocyte development [GO:0014002]; cell differentiation [GO:0030154]; cell fate determination [GO:0001709]; cerebellar molecular layer formation [GO:0021688]; cerebellar Purkinje cell layer structural organization [GO:0021693]; clathrin-dependent endocytosis [GO:0072583]; compartment pattern specification [GO:0007386]; determination of left/right symmetry [GO:0007368]; endothelial tip cell fate specification [GO:0097102]; energy homeostasis [GO:0097009]; heart looping [GO:0001947]; hemopoiesis [GO:0030097]; inner ear development [GO:0048839]; lateral inhibition [GO:0046331]; left/right axis specification [GO:0070986]; loop of Henle development [GO:0072070]; marginal zone B cell differentiation [GO:0002315]; negative regulation of cardiac muscle cell differentiation [GO:2000726]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epidermal cell differentiation [GO:0045605]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of glial cell apoptotic process [GO:0034351]; negative regulation of inner ear auditory receptor cell differentiation [GO:0045608]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of neuron differentiation [GO:0045665]; nephron development [GO:0072006]; neuron fate specification [GO:0048665]; neuronal stem cell population maintenance [GO:0097150]; Notch signaling pathway [GO:0007219]; Notch signaling pathway involved in arterial endothelial cell fate commitment [GO:0060853]; organ growth [GO:0035265]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endocytosis [GO:0045807]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of skeletal muscle tissue growth [GO:0048633]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal tubule development [GO:0072014]; proximal/distal pattern formation [GO:0009954]; regulation of blood pressure [GO:0008217]; regulation of cell adhesion [GO:0030155]; regulation of cell division [GO:0051302]; regulation of growth [GO:0040008]; regulation of neurogenesis [GO:0050767]; regulation of skeletal muscle tissue growth [GO:0048631]; regulation of somitogenesis [GO:0014807]; regulation of vascular endothelial growth factor signaling pathway [GO:1900746]; retina development in camera-type eye [GO:0060041]; retina morphogenesis in camera-type eye [GO:0060042]; skeletal muscle tissue growth [GO:0048630]; skin epidermis development [GO:0098773]; somite specification [GO:0001757]; somitogenesis [GO:0001756]; spinal cord development [GO:0021510]; type B pancreatic cell development [GO:0003323]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00548-1; Sequence=Displayed; Name=2; IsoId=O00548-2; Sequence=VSP_057186, VSP_057187; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q61483}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q61483}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q61483}. Membrane raft {ECO:0000250|UniProtKB:Q61483}. Note=Distributed around adherens junction in the apical endfeet through interactions with MAGI1. {ECO:0000250|UniProtKB:Q61483}.


uniprotID: Q86YH6
geneSymbol: PDSS2
reactome: R-HSA-2142789;
length: 399
go: ENSG00000164494;
snps: rs3734675 rs118203956
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Decaprenyl-diphosphate synthase subunit 2 (EC 2.5.1.91) (All-trans-decaprenyl-diphosphate synthase subunit 2) (Candidate tumor suppressor protein) (Decaprenyl pyrophosphate synthase subunit 2)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; transferase complex [GO:1990234]; protein heterodimerization activity [GO:0046982]; trans-hexaprenyltranstransferase activity [GO:0000010]; trans-octaprenyltranstransferase activity [GO:0050347]; isoprenoid biosynthetic process [GO:0008299]; protein heterotetramerization [GO:0051290]; regulation of body fluid levels [GO:0050878]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YH6-1; Sequence=Displayed; Name=2; IsoId=Q86YH6-2; Sequence=VSP_017098, VSP_017099; 


uniprotID: Q9NR61
geneSymbol: DLL4
pdb: 5MVX;
name: Delta-like protein 4 (Drosophila Delta homolog 4) (Delta4)
length: 685
go: ENSG00000128917;
snps: rs796065350 rs796065348 rs796065351 rs796065349 rs796065347 rs796065346 rs796065345
reactome:
R-HSA-2122948;R-HSA-2644606;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-9013507;R-HSA-9013700;

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; Notch binding [GO:0005112]; angiogenesis [GO:0001525]; aortic valve morphogenesis [GO:0003180]; blood circulation [GO:0008015]; blood vessel remodeling [GO:0001974]; branching involved in blood vessel morphogenesis [GO:0001569]; cardiac atrium morphogenesis [GO:0003209]; cardiac ventricle morphogenesis [GO:0003208]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; dorsal aorta morphogenesis [GO:0035912]; negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903588]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endothelial cell migration [GO:0010596]; 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]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; pericardium morphogenesis [GO:0003344]; positive regulation of gene expression [GO:0010628]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of Notch signaling pathway [GO:0045747]; regulation of neural retina development [GO:0061074]; signal transduction [GO:0007165]; T cell differentiation [GO:0030217]; ventral spinal cord interneuron fate commitment [GO:0060579]; ventricular trabecula myocardium morphogenesis [GO:0003222]; visual perception [GO:0007601]


uniprotID: P42566
geneSymbol: EPS15
reactome: R-HSA-182971;R-HSA-6807004;R-HSA-8856825;R-HSA-8856828;R-HSA-8875360;
pdb: 1C07;1EH2;1F8H;1FF1;2IV9;2JXC;4RH5;4RH9;4RHG;4S0G;5AWT;5AWU;5JP2;
name: Epidermal growth factor receptor substrate 15 (Protein Eps15) (Protein AF-1p)
length: 896
go: ENSG00000085832;
snps: rs17567
sequence:

opentargets:
aggresome [GO:0016235]; AP-2 adaptor complex [GO:0030122]; apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; ciliary membrane [GO:0060170]; clathrin-coated pit [GO:0005905]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; glutamatergic synapse [GO:0098978]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cargo receptor activity [GO:0038024]; identical protein binding [GO:0042802]; polyubiquitin modification-dependent protein binding [GO:0031593]; SH3 domain binding [GO:0017124]; cell proliferation [GO:0008283]; clathrin coat assembly [GO:0048268]; endocytic recycling [GO:0032456]; epidermal growth factor receptor signaling pathway [GO:0007173]; Golgi to endosome transport [GO:0006895]; membrane organization [GO:0061024]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; positive regulation of receptor recycling [GO:0001921]; postsynaptic neurotransmitter receptor internalization [GO:0098884]; protein transport [GO:0015031]; receptor-mediated endocytosis of virus by host cell [GO:0019065]; regulation of cell proliferation [GO:0042127]; vesicle organization [GO:0016050]; viral entry into host cell [GO:0046718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42566-1; Sequence=Displayed; Name=2; Synonyms=Eps15b; IsoId=P42566-2; Sequence=VSP_036168, VSP_036169; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Recruited to the plasma membrane upon EGFR activation and localizes to coated pits. Colocalizes with UBQLN1 in ubiquitin-rich cytoplasmic aggregates that are not endocytic compartments and in cytoplasmic juxtanuclear structures called aggresomes. {ECO:0000269|PubMed:16159959}.; SUBCELLULAR LOCATION: Isoform 2: Early endosome membrane {ECO:0000269|PubMed:18362181}; Peripheral membrane protein {ECO:0000269|PubMed:18362181}; Cytoplasmic side {ECO:0000269|PubMed:18362181}. Note=Colocalizes with HGS on bilayered clathrin coats on endosomes.


uniprotID: Q5RHP9
geneSymbol: ERICH3
name: Glutamate-rich protein 3
length: 1530
go: ENSG00000178965;
snps: rs11210490 rs696698 rs17095653 rs2305549 rs11580409 rs9326116
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5RHP9-1; Sequence=Displayed; Name=2; IsoId=Q5RHP9-2; Sequence=VSP_028159; Note=No experimental confirmation available.; Name=3; IsoId=Q5RHP9-3; Sequence=VSP_028160, VSP_028161, VSP_028162, VSP_028163; Note=No experimental confirmation available.; 


uniprotID: A6NGS2
geneSymbol: ERICH4
name: Glutamate-rich protein 4
length: 130
go: ENSG00000204978;
sequence:
MELWRQLNQAGLVPPGLGPPPQALREVSPVEIPGQTLRTAGADTGGACDSLLWIREELGNLRRVDVQLLGQLCSLGLEMGALREELVTILEEEEESSKEEEEDQEPQRKQEEEHLEACPAPHPPDFEMMI


uniprotID: Q92874
geneSymbol: DNASE1L2
length: 299
go: ENSG00000167968;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16902420}. Secreted {ECO:0000305}.
name:
Deoxyribonuclease-1-like 2 (EC 3.1.21.-) (DNase I homolog protein DHP1) (Deoxyribonuclease I-like 2) (DNase I-like 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; deoxyribonuclease activity [GO:0004536]; deoxyribonuclease I activity [GO:0004530]; DNA binding [GO:0003677]; corneocyte development [GO:0003335]; DNA catabolic process [GO:0006308]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA metabolic process [GO:0006259]; hair follicle development [GO:0001942]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=DNAS1L2-L; IsoId=Q92874-1; Sequence=Displayed; Name=2; Synonyms=DNAS1L2-S; IsoId=Q92874-2; Sequence=VSP_053879; Note=Specifically expressed in peripheral blood leukocytes.; 


uniprotID: Q96PL5
geneSymbol: ERMAP
length: 475
go: ENSG00000164010;
name:
Erythroid membrane-associated protein (hERMAP) (Radin blood group antigen) (Scianna blood group antigen)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

snps:
rs35757049 rs33953680 rs146429994 rs56047316 rs56025238 rs56136737 rs368064875 rs35147822 rs34441268 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11783959}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:11783959}.


uniprotID: Q96BY6
geneSymbol: DOCK10
reactome: R-HSA-983231;
name: Dedicator of cytokinesis protein 10 (Zizimin-3)
length: 2186
go: ENSG00000135905;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; guanyl-nucleotide exchange factor activity [GO:0005085]; B cell homeostasis [GO:0001782]; dendritic spine morphogenesis [GO:0060997]; marginal zone B cell differentiation [GO:0002315]; positive regulation of GTPase activity [GO:0043547]; regulation of cell migration [GO:0030334]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=DOCK10.1; IsoId=Q96BY6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96BY6-2; Sequence=VSP_007716, VSP_007717; Note=No experimental confirmation available.; Name=3; Synonyms=DOCK10.2; IsoId=Q96BY6-3; Sequence=VSP_047731; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18499258}. Cytoplasm {ECO:0000269|PubMed:18499258}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q8BZN6}.


uniprotID: Q92608
geneSymbol: DOCK2
reactome: R-HSA-164944;R-HSA-6798695;R-HSA-983231;
pdb: 2RQR;2YIN;3A98;3B13;
name: Dedicator of cytokinesis protein 2
length: 1830
go: ENSG00000134516;
snps: rs780318765 rs13179480 rs2270898 rs2270898
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; specific granule lumen [GO:0035580]; GTPase activator activity [GO:0005096]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; T cell receptor binding [GO:0042608]; actin cytoskeleton organization [GO:0030036]; alpha-beta T cell proliferation [GO:0046633]; chemotaxis [GO:0006935]; establishment of T cell polarity [GO:0001768]; immunological synapse formation [GO:0001771]; macropinocytosis [GO:0044351]; membrane raft polarization [GO:0001766]; myeloid dendritic cell activation involved in immune response [GO:0002277]; negative thymic T cell selection [GO:0045060]; neutrophil degranulation [GO:0043312]; positive regulation of phagocytosis [GO:0050766]; positive thymic T cell selection [GO:0045059]; regulation of defense response to virus by virus [GO:0050690]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92608-1; Sequence=Displayed; Name=2; IsoId=Q92608-2; Sequence=VSP_007696, VSP_007697, VSP_007698, VSP_007699, VSP_007700; Note=Splicing donor and acceptor sites between exon 6 and exon 7 are not canonical. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:12393632}; Peripheral membrane protein {ECO:0000269|PubMed:12393632}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12393632}. Note=Colocalizes with F-actin.


uniprotID: O75460
geneSymbol: ERN1
reactome: R-HSA-381070;
pdb: 2HZ6;3P23;4U6R;4YZ9;4YZC;4YZD;4Z7G;4Z7H;5HGI;
length: 977
go: ENSG00000178607;
snps: rs1397145500 rs55869215 rs186305118 rs146710304 rs918253870 rs1279653488
name:
Serine/threonine-protein kinase/endoribonuclease IRE1 (Endoplasmic reticulum-to-nucleus signaling 1) (Inositol-requiring protein 1) (hIRE1p) (Ire1-alpha) (IRE1a) [Includes: Serine/threonine-protein kinase (EC 2.7.11.1); Endoribonuclease (EC 3.1.26.-)]

sequence:

opentargets:
AIP1-IRE1 complex [GO:1990597]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; Ire1 complex [GO:1990332]; IRE1-RACK1-PP2A complex [GO:1990630]; IRE1-TRAF2-ASK1 complex [GO:1990604]; mitochondrion [GO:0005739]; nuclear inner membrane [GO:0005637]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; endoribonuclease activity [GO:0004521]; enzyme binding [GO:0019899]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; platelet-derived growth factor receptor binding [GO:0005161]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; cell cycle arrest [GO:0007050]; cellular response to glucose stimulus [GO:0071333]; cellular response to unfolded protein [GO:0034620]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; endothelial cell proliferation [GO:0001935]; insulin metabolic process [GO:1901142]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; IRE1-mediated unfolded protein response [GO:0036498]; mRNA catabolic process [GO:0006402]; mRNA cleavage [GO:0006379]; mRNA cleavage involved in mRNA processing [GO:0098787]; mRNA splicing, via endonucleolytic cleavage and ligation [GO:0070054]; peptidyl-serine autophosphorylation [GO:0036289]; peptidyl-serine trans-autophosphorylation [GO:1990579]; positive regulation of endoplasmic reticulum unfolded protein response [GO:1900103]; positive regulation of RNA splicing [GO:0033120]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of macroautophagy [GO:0016241]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75460-1; Sequence=Displayed; Name=2; IsoId=O75460-2; Sequence=VSP_034582, VSP_034583; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9637683}; Single-pass type I membrane protein {ECO:0000269|PubMed:9637683}.


uniprotID: Q96HE7
geneSymbol: ERO1A
reactome: R-HSA-264876;R-HSA-3299685;
pdb: 3AHQ;3AHR;
length: 468
go: ENSG00000197930;
name:
ERO1-like protein alpha (ERO1-L) (ERO1-L-alpha) (EC 1.8.4.-) (Endoplasmic oxidoreductin-1-like protein) (Endoplasmic reticulum oxidoreductase alpha) (Oxidoreductin-1-L-alpha)

sequence:

opentargets:
dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; disulfide oxidoreductase activity [GO:0015036]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor [GO:0016671]; protein disulfide isomerase activity [GO:0003756]; protein disulfide oxidoreductase activity [GO:0015035]; 4-hydroxyproline metabolic process [GO:0019471]; animal organ senescence [GO:0010260]; brown fat cell differentiation [GO:0050873]; cell redox homeostasis [GO:0045454]; cellular protein modification process [GO:0006464]; cellular response to hypoxia [GO:0071456]; cellular response to oxidative stress [GO:0034599]; chaperone cofactor-dependent protein refolding [GO:0051085]; endoplasmic reticulum unfolded protein response [GO:0030968]; extracellular matrix organization [GO:0030198]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; protein folding [GO:0006457]; protein folding in endoplasmic reticulum [GO:0034975]; protein maturation by protein folding [GO:0022417]; release of sequestered calcium ion into cytosol [GO:0051209]; response to endoplasmic reticulum stress [GO:0034976]; response to temperature stimulus [GO:0009266]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10671517, ECO:0000269|PubMed:14517240}; Peripheral membrane protein {ECO:0000269|PubMed:10671517, ECO:0000269|PubMed:14517240}; Lumenal side {ECO:0000269|PubMed:10671517, ECO:0000269|PubMed:14517240}. Note=The association with ERP44 is essential for its retention in the endoplasmic reticulum.


uniprotID: Q86YB8
geneSymbol: ERO1B
reactome: R-HSA-264876;
length: 467
go: ENSG00000086619;
drug: DB03147;
snps: rs2477599 rs1055851
name:
ERO1-like protein beta (ERO1-L-beta) (EC 1.8.4.-) (Endoplasmic reticulum oxidoreductase beta) (Endoplasmic reticulum oxidoreductin-1-like protein B) (Oxidoreductin-1-L-beta)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor [GO:0016671]; protein disulfide isomerase activity [GO:0003756]; protein disulfide oxidoreductase activity [GO:0015035]; unfolded protein binding [GO:0051082]; 4-hydroxyproline metabolic process [GO:0019471]; cell redox homeostasis [GO:0045454]; extracellular matrix organization [GO:0030198]; glucose homeostasis [GO:0042593]; insulin processing [GO:0030070]; protein folding [GO:0006457]; protein folding in endoplasmic reticulum [GO:0034975]; protein maturation by protein folding [GO:0022417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YB8-1; Sequence=Displayed; Name=2; IsoId=Q86YB8-2; Sequence=VSP_056988; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10818100}; Peripheral membrane protein {ECO:0000269|PubMed:10818100}; Lumenal side {ECO:0000269|PubMed:10818100}. Note=The association with ERP44 may be essential for its retention in the endoplasmic reticulum.


uniprotID: Q18PE1
geneSymbol: DOK7
name: Protein Dok-7 (Downstream of tyrosine kinase 7)
length: 504
go: ENSG00000175920;
sequence:

opentargets:
cell junction [GO:0030054]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synapse [GO:0045202]; lipid binding [GO:0008289]; protein kinase binding [GO:0019901]; positive regulation of protein tyrosine kinase activity [GO:0061098]

snps:
rs763233743 rs62272670 rs940346413 rs138010842 rs770987150 rs6811423 rs758131044 rs781227659 rs768892432 rs118203994 rs16844422 rs16844460 rs115614731 rs6811423 rs150728781 rs6831659 rs560463670 rs370039804 rs16844464 rs2020433 rs753026831 rs16844470 rs9684786 rs147185207 rs184556570 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q18PE1-1; Sequence=Displayed; Name=2; IsoId=Q18PE1-2; Sequence=VSP_020633, VSP_020634; Note=No experimental confirmation available.; Name=4; IsoId=Q18PE1-4; Sequence=VSP_047252, VSP_047253; Note=No experimental confirmation available.; Name=3; IsoId=Q18PE1-3; Sequence=VSP_020635; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Accumulates at neuromuscular junctions. {ECO:0000250}.


uniprotID: Q96DN0
geneSymbol: ERP27
pdb: 2L4C;4F9Z;
name: Endoplasmic reticulum resident protein 27 (ER protein 27) (ERp27)
length: 273
go: ENSG00000139055;
snps: rs35030722
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:16940051}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; protein disulfide isomerase activity [GO:0003756]; peptidyl-proline hydroxylation [GO:0019511]; protein folding [GO:0006457]; regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902175]; response to endoplasmic reticulum stress [GO:0034976]


uniprotID: Q8TEW6
geneSymbol: DOK4
reactome: R-HSA-8853659;
name: Docking protein 4 (Downstream of tyrosine kinase 4) (Insulin receptor substrate 5) (IRS-5) (IRS5)
length: 326
go: ENSG00000125170;
opentargets: cytosol [GO:0005829]; axon guidance [GO:0007411]
sequence:


uniprotID: P09172
geneSymbol: DBH
reactome: R-HSA-209905;
pdb: 4ZEL;
length: 617
go: ENSG00000123454;
drug: DB06774;DB05394;DB00822;DB00988;DB00550;DB00126;
snps: rs5318 rs267606760 rs77576840 rs5319 rs5320 rs5321 rs5323 rs5324 rs5325 rs4531 rs267606761 rs6271
name:
Dopamine beta-hydroxylase (EC 1.14.17.1) (Dopamine beta-monooxygenase) [Cleaved into: Soluble dopamine beta-hydroxylase]

sequence:

opentargets:
chromaffin granule lumen [GO:0034466]; chromaffin granule membrane [GO:0042584]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; secretory granule lumen [GO:0034774]; secretory granule membrane [GO:0030667]; transport vesicle membrane [GO:0030658]; catalytic activity [GO:0003824]; copper ion binding [GO:0005507]; dopamine beta-monooxygenase activity [GO:0004500]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen [GO:0016715]; behavioral response to ethanol [GO:0048149]; blood vessel remodeling [GO:0001974]; catecholamine biosynthetic process [GO:0042423]; chemical synaptic transmission [GO:0007268]; cytokine production [GO:0001816]; dopamine catabolic process [GO:0042420]; fear response [GO:0042596]; glucose homeostasis [GO:0042593]; homoiothermy [GO:0042309]; leukocyte mediated immunity [GO:0002443]; leukocyte migration [GO:0050900]; locomotory behavior [GO:0007626]; maternal behavior [GO:0042711]; memory [GO:0007613]; norepinephrine biosynthetic process [GO:0042421]; octopamine biosynthetic process [GO:0006589]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of vasoconstriction [GO:0045907]; regulation of cell proliferation [GO:0042127]; regulation of extrinsic apoptotic signaling pathway [GO:2001236]; response to amphetamine [GO:0001975]; response to pain [GO:0048265]; visual learning [GO:0008542]

location:
SUBCELLULAR LOCATION: Soluble dopamine beta-hydroxylase: Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000269|PubMed:7961964}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule lumen {ECO:0000269|PubMed:7961964}. Secreted {ECO:0000269|PubMed:7961964, ECO:0000269|PubMed:8546710}.; SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000269|PubMed:7961964}; Single-pass type II membrane protein {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000269|PubMed:7961964}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: P20036
geneSymbol: HLA-DPA1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 3LQZ;4P4K;4P4R;4P57;4P5K;4P5M;
length: 260
go: ENSG00000231389;
name:
HLA class II histocompatibility antigen, DP alpha 1 chain (DP(W3)) (DP(W4)) (HLA-SB alpha chain) (MHC class II DP3-alpha) (MHC class II DPA1)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; endosome membrane [GO:0010008]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II receptor activity [GO:0032395]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular response to interferon-gamma [GO:0071346]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell proliferation [GO:0042102]; T cell receptor signaling pathway [GO:0050852]

snps:
rs386699859 rs1126533 rs1126534 rs2308907 rs1042175 rs2308910 rs2308912 rs2308911 rs36013091 rs72558171 rs1042178 rs41543112 rs2308917 rs61759929 rs41559316 rs1126542 rs41562016 rs1042190 rs2308930 rs1042308 rs17509489 rs1126769 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.


uniprotID: P16444
geneSymbol: DPEP1
reactome: R-HSA-2142691;R-HSA-5423646;
pdb: 1ITQ;1ITU;
length: 411
go: ENSG00000015413;
drug: DB01597;DB06211;
snps: rs1043397364 rs1126464 rs1126464
name:
Dipeptidase 1 (EC 3.4.13.19) (Dehydropeptidase-I) (Microsomal dipeptidase) (Renal dipeptidase) (hRDP)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; cell junction [GO:0030054]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; microvillus membrane [GO:0031528]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; dipeptidase activity [GO:0016805]; dipeptidyl-peptidase activity [GO:0008239]; GPI anchor binding [GO:0034235]; metallodipeptidase activity [GO:0070573]; metalloexopeptidase activity [GO:0008235]; modified amino acid binding [GO:0072341]; zinc ion binding [GO:0008270]; antibiotic metabolic process [GO:0016999]; cellular lactam catabolic process [GO:0072340]; cellular response to calcium ion [GO:0071277]; cellular response to drug [GO:0035690]; cellular response to nitric oxide [GO:0071732]; glutathione metabolic process [GO:0006749]; homocysteine metabolic process [GO:0050667]; leukotriene metabolic process [GO:0006691]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell migration [GO:0030336]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Apical cell membrane; Lipid-anchor, GPI-anchor. Cell projection, microvillus membrane; Lipid-anchor, GPI-anchor. Note=Brush border membrane.


uniprotID: Q9H4A9
geneSymbol: DPEP2
reactome: R-HSA-2142691;R-HSA-5423646;
name: Dipeptidase 2 (EC 3.4.13.19)
length: 486
go: ENSG00000167261;
snps: rs255051 rs1133090
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; dipeptidase activity [GO:0016805]; dipeptidyl-peptidase activity [GO:0008239]; metal ion binding [GO:0046872]; metalloexopeptidase activity [GO:0008235]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H4A9-1; Sequence=Displayed; Name=2; IsoId=Q9H4A9-2; Sequence=VSP_017851; Note=No experimental confirmation available.; Name=3; IsoId=Q9H4A9-3; Sequence=VSP_059428, VSP_059429; 


uniprotID: P0DP91
geneSymbol: CSB-PGBD3
name: Chimeric ERCC6-PGBD3 protein (Chimeric CSB-PGBD3 protein)
length: 1061
go: ENSG00000225830;
opentargets: nucleus [GO:0005634]
snps: rs4253072
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26218421}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=CSB-PGBD3 {ECO:0000303|PubMed:18369450}; IsoId=P0DP91-1, Q03468-2; Sequence=Displayed; Note=Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence. {ECO:0000269|PubMed:18369450}; Name=CSB; IsoId=Q03468-1; Sequence=External; Name=PGBD3; IsoId=Q8N328-1; Sequence=External; 


uniprotID: Q92784
geneSymbol: DPF3
pdb: 2KWJ;2KWK;2KWN;2KWO;5I3L;5SZB;5SZC;
name: Zinc finger protein DPF3 (BRG1-associated factor 45C) (BAF45C) (Zinc finger protein cer-d4)
length: 378
go: ENSG00000205683;
snps: rs17855717
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; nBAF complex [GO:0071565]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=DPF3b; IsoId=Q92784-1; Sequence=Displayed; Name=2; Synonyms=DPF3a; IsoId=Q92784-2; Sequence=VSP_035884; Note=Lacks PHD-type zinc fingers and does not bind to acetylated histones H3 and H4.; Name=3; IsoId=Q92784-3; Sequence=VSP_035882, VSP_035884; Note=No experimental confirmation available.; Name=4; IsoId=Q92784-4; Sequence=VSP_035883; Name=5; IsoId=Q92784-5; Sequence=VSP_055748, VSP_035884; 


uniprotID: Q9BTV6
geneSymbol: DPH7
reactome: R-HSA-5358493;
length: 452
go: ENSG00000148399;
snps: rs821314
name:
Diphthine methyltransferase (EC 3.1.1.97) (Diphthamide biosynthesis protein 7) (WD repeat-containing protein 85)

sequence:

opentargets:
diphthine methylesterase activity [GO:0061685]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]


uniprotID: P04440
geneSymbol: HLA-DPB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 3LQZ;4P4K;4P4R;4P57;4P5K;4P5M;
length: 258
go: ENSG00000223865;
name:
HLA class II histocompatibility antigen, DP beta 1 chain (HLA class II histocompatibility antigen, DP(W4) beta chain) (MHC class II antigen DPB1)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; endosome membrane [GO:0010008]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell proliferation [GO:0042102]; T cell receptor signaling pathway [GO:0050852]

snps:
rs41558014 rs11551416 rs1126504 rs12722013 rs1126509 rs386699869 rs1126513 rs41540313 rs41555313 rs41555313 rs41553416 rs41561114 rs12722018 rs9277348 rs1042117 rs1042121 rs77062860 rs41552915 rs707958 rs386699870 rs707958 rs1042131 rs1042133 rs41545212 rs41550319 rs41560812 rs1042136 rs1042136 rs41547212 rs1042140 rs12722027 rs41554314 rs41546618 rs41551920 rs1042153 rs1042151 rs1042169 rs1042169 rs9277354 rs9277355 rs9277356 rs41541915 rs1126537 rs1042335 rs14362 rs9276 rs11551421 rs3097675 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.


uniprotID: Q96AP7
geneSymbol: ESAM
reactome: R-HSA-202733;
name: Endothelial cell-selective adhesion molecule
length: 390
go: ENSG00000149564;
snps: rs12792040
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; leukocyte migration [GO:0050900]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AP7-1; Sequence=Displayed; Name=2; IsoId=Q96AP7-2; Sequence=VSP_055594, VSP_055595, VSP_055596; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q56NI9
geneSymbol: ESCO2
reactome: R-HSA-2468052;
name: N-acetyltransferase ESCO2 (EC 2.3.1.-) (Establishment of cohesion 1 homolog 2) (ECO1 homolog 2)
length: 601
go: ENSG00000171320;
snps: rs4732748 rs57479434 rs80359868
sequence:

opentargets:
cell junction [GO:0030054]; chromatin [GO:0000785]; chromocenter [GO:0010369]; chromosome [GO:0005694]; Golgi apparatus [GO:0005794]; nuclear pericentric heterochromatin [GO:0031618]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; XY body [GO:0001741]; acetyltransferase activity [GO:0016407]; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor [GO:0004468]; metal ion binding [GO:0046872]; N-acetyltransferase activity [GO:0008080]; double-strand break repair [GO:0006302]; hematopoietic progenitor cell differentiation [GO:0002244]; post-translational protein acetylation [GO:0034421]; protein localization to chromatin [GO:0071168]; regulation of DNA replication [GO:0006275]; sister chromatid cohesion [GO:0007062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q56NI9-1; Sequence=Displayed; Name=2; IsoId=Q56NI9-2; Sequence=VSP_055773, VSP_055774; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496}. Chromosome {ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496}. Note=Nuclear in interphase cells, excluded from chromosomes during metaphase but reassociates with chromosomes in telophase. {ECO:0000269|PubMed:15958495}.


uniprotID: Q96J88
geneSymbol: EPSTI1
name: Epithelial-stromal interaction protein 1
length: 318
go: ENSG00000133106;
snps: rs11557739 rs1044856
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96J88-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96J88-2; Sequence=VSP_030201; Name=3; IsoId=Q96J88-3; Sequence=VSP_030202; 


uniprotID: Q9NQ30
geneSymbol: ESM1
name: Endothelial cell-specific molecule 1 (ESM-1)
length: 184
go: ENSG00000164283;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKSVLLLTTLLVPAHLVAAWSNNYAVDCPQHCDSSECKSSPRCKRTVLDDCGCCRVCAAGRGETCYRTVSGMDGMKCGPGLRCQPSNGEDPFGEEFGICKDCPYGTFGMDCRETCNCQSGICDRGTGKCLKFPFFQYSVTKSSNRFVSLTEHDMASGDGNIVREEVVKENAAGSPVMRKWLNPR

opentargets:
extracellular region [GO:0005576]; hepatocyte growth factor receptor binding [GO:0005171]; insulin-like growth factor binding [GO:0005520]; integrin binding [GO:0005178]; angiogenesis [GO:0001525]; positive regulation of cell proliferation [GO:0008284]; positive regulation of hepatocyte growth factor receptor signaling pathway [GO:1902204]; regulation of cell growth [GO:0001558]; sprouting angiogenesis [GO:0002040]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQ30-1; Sequence=Displayed; Name=2; IsoId=Q9NQ30-2; Sequence=VSP_042631; 


uniprotID: Q15054
geneSymbol: POLD3
pdb: 1U76;2N1G;3E0J;
length: 466
go: ENSG00000077514;
reactome:
R-HSA-110314;R-HSA-174411;R-HSA-174414;R-HSA-174417;R-HSA-174437;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-69091;R-HSA-69166;R-HSA-69183;

name:
DNA polymerase delta subunit 3 (DNA polymerase delta subunit C) (DNA polymerase delta subunit p66) (DNA polymerase delta subunit p68)

sequence:

opentargets:
cytoplasm [GO:0005737]; delta DNA polymerase complex [GO:0043625]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-directed DNA polymerase activity [GO:0003887]; DNA damage response, detection of DNA damage [GO:0042769]; DNA synthesis involved in DNA repair [GO:0000731]; mismatch repair [GO:0006298]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15054-1; Sequence=Displayed; Name=2; IsoId=Q15054-2; Sequence=VSP_054150; Note=No experimental confirmation available.; Name=3; IsoId=Q15054-3; Sequence=VSP_054149; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9EQ28}. Nucleus {ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:20227374, ECO:0000269|PubMed:22801543}. Note=Partially colocalizes with PCNA and POLD1 at S phase replication sites (PubMed:11595739). Recruited to DNA damage sites within 2 hours following UV irradiation (PubMed:20227374, PubMed:22801543). {ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:20227374, ECO:0000269|PubMed:22801543}.


uniprotID: Q07864
geneSymbol: POLE
pdb: 5VBN;
name: DNA polymerase epsilon catalytic subunit A (EC 2.7.7.7) (DNA polymerase II subunit A)
length: 2286
go: ENSG00000177084;
drug: DB00242;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
epsilon DNA polymerase complex [GO:0008622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 4 iron, 4 sulfur cluster binding [GO:0051539]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; nucleotide binding [GO:0000166]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; zinc ion binding [GO:0008270]; base-excision repair, gap-filling [GO:0006287]; DNA replication [GO:0006260]; DNA replication proofreading [GO:0045004]; DNA synthesis involved in DNA repair [GO:0000731]; embryonic organ development [GO:0048568]; G1/S transition of mitotic cell cycle [GO:0000082]; leading strand elongation [GO:0006272]; mitotic cell cycle [GO:0000278]; nucleotide-excision repair, DNA gap filling [GO:0006297]

snps:
rs34047482 rs5744739 rs1060500835 rs5744751 rs5744752 rs1057519943 rs5744760 rs1057519945 rs483352909 rs864622766 rs5744799 rs1064794759 rs770558983 rs5744904 rs5744933 rs5744934 rs5744935 rs5744948 rs5744950 rs1335665224 rs5744971 rs5744991 rs5745021 rs58916399 rs5745066 rs5745067 rs5745068 


uniprotID: Q9UHL4
geneSymbol: DPP7
reactome: R-HSA-6798695;
pdb: 3JYH;3N0T;4EBB;
length: 492
go: ENSG00000176978;
snps: rs10747049
name:
Dipeptidyl peptidase 2 (EC 3.4.14.2) (Dipeptidyl aminopeptidase II) (Dipeptidyl peptidase 7) (Dipeptidyl peptidase II) (DPP II) (Quiescent cell proline dipeptidase)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; vesicle [GO:0031982]; dipeptidyl-peptidase activity [GO:0008239]; serine-type peptidase activity [GO:0008236]; neutrophil degranulation [GO:0043312]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:15487984}. Cytoplasmic vesicle {ECO:0000269|PubMed:15487984}. Secreted {ECO:0000269|PubMed:15487984}.


uniprotID: Q9NY33
geneSymbol: DPP3
pdb: 3FVY;3T6B;3T6J;5E2Q;5E33;5E3A;5E3C;5EGY;5EHH;
length: 737
go: ENSG00000254986;
snps: rs11826683 rs11550299 rs2305535 rs12421620
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:1515063, ECO:0000269|PubMed:3233187}.
name:
Dipeptidyl peptidase 3 (EC 3.4.14.4) (Dipeptidyl aminopeptidase III) (Dipeptidyl arylamidase III) (Dipeptidyl peptidase III) (DPP III) (Enkephalinase B)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; dipeptidyl-peptidase activity [GO:0008239]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NY33-1; Sequence=Displayed; Name=2; IsoId=Q9NY33-2; Sequence=VSP_005510; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; Synonyms=DPP3-BBS1; IsoId=Q8NFJ9-2; Sequence=External; Note=Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available.; Name=4; IsoId=Q9NY33-4; Sequence=VSP_044696; Note=No experimental confirmation available.; 


uniprotID: Q92731
geneSymbol: ESR2
reactome: R-HSA-1257604;R-HSA-2219530;R-HSA-383280;R-HSA-6811558;R-HSA-8939211;
name: Estrogen receptor beta (ER-beta) (Nuclear receptor subfamily 3 group A member 2)
length: 530
go: ENSG00000140009;
pdb:
1L2J;1NDE;1QKM;1U3Q;1U3R;1U3S;1U9E;1X76;1X78;1X7B;1X7J;1YY4;1YYE;1ZAF;2FSZ;2GIU;2I0G;2JJ3;2NV7;2QTU;2YJD;2YLY;2Z4B;3OLL;3OLS;3OMO;3OMP;3OMQ;4J24;4J26;4ZI1;5TOA;

sequence:

opentargets:
extracellular region [GO:0005576]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; estrogen receptor activity [GO:0030284]; estrogen response element binding [GO:0034056]; identical protein binding [GO:0042802]; nuclear receptor activity [GO:0004879]; receptor antagonist activity [GO:0048019]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding [GO:0038052]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; cell-cell signaling [GO:0007267]; cellular response to estradiol stimulus [GO:0071392]; intracellular estrogen receptor signaling pathway [GO:0030520]; negative regulation of cell growth [GO:0030308]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]

drug:
DB07119;DB07032;DB06875;DB07236;DB07230;DB07150;DB07198;DB06927;DB04468;DB05882;DB00255;DB00783;DB01196;DB04573;DB04574;DB01645;DB06202;DB05052;DB02983;DB01708;DB00481;DB00675;DB01108;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Beta-1; IsoId=Q92731-1; Sequence=Displayed; Name=2; Synonyms=Beta-2, CX; IsoId=Q92731-2; Sequence=VSP_003689; Name=3; Synonyms=Beta-2A; IsoId=Q92731-3; Sequence=VSP_003684, VSP_003686; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=Beta-3; IsoId=Q92731-4; Sequence=VSP_003690; Name=5; Synonyms=Beta-4; IsoId=Q92731-5; Sequence=VSP_003691; Note=Does not form homodimers.; Name=6; Synonyms=Beta-5; IsoId=Q92731-6; Sequence=VSP_003692; Note=Does not form homodimers.; Name=7; Synonyms=Beta-5A; IsoId=Q92731-7; Sequence=VSP_003685; Name=8; Synonyms=Beta-6; IsoId=Q92731-8; Sequence=VSP_003687, VSP_003688; Name=9; IsoId=Q92731-9; Sequence=VSP_055746, VSP_055747; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:19126643, ECO:0000269|PubMed:20074560}.


uniprotID: Q6V1X1
geneSymbol: DPP8
pdb: 6EOO;6EOP;6EOS;6EOT;
length: 898
go: ENSG00000074603;
name:
Dipeptidyl peptidase 8 (DP8) (EC 3.4.14.5) (Dipeptidyl peptidase IV-related protein 1) (DPRP-1) (Dipeptidyl peptidase VIII) (DPP VIII) (Prolyl dipeptidase DPP8)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dipeptidyl-peptidase activity [GO:0008239]; serine-type peptidase activity [GO:0008236]; immune response [GO:0006955]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6V1X1-1; Sequence=Displayed; Name=2; IsoId=Q6V1X1-2; Sequence=VSP_013864; Name=3; IsoId=Q6V1X1-3; Sequence=VSP_013860; Name=4; IsoId=Q6V1X1-4; Sequence=VSP_013860, VSP_013862; Name=5; IsoId=Q6V1X1-5; Sequence=VSP_013863; Name=6; IsoId=Q6V1X1-6; Sequence=VSP_013861; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11012666, ECO:0000269|PubMed:12534281, ECO:0000269|PubMed:12662155}.


uniprotID: Q5T2R2
geneSymbol: PDSS1
reactome: R-HSA-2142789;
length: 415
go: ENSG00000148459;
snps: rs119463988
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Decaprenyl-diphosphate synthase subunit 1 (EC 2.5.1.91) (All-trans-decaprenyl-diphosphate synthase subunit 1) (Decaprenyl pyrophosphate synthase subunit 1) (Trans-prenyltransferase 1) (TPT 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; transferase complex [GO:1990234]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; trans-hexaprenyltranstransferase activity [GO:0000010]; trans-octaprenyltranstransferase activity [GO:0050347]; isoprenoid biosynthetic process [GO:0008299]; protein heterotetramerization [GO:0051290]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T2R2-1; Sequence=Displayed; Name=2; IsoId=Q5T2R2-2; Sequence=VSP_017101; Note=No experimental confirmation available.; Name=3; IsoId=Q5T2R2-3; Sequence=VSP_017100; 


uniprotID: Q86TI2
geneSymbol: DPP9
pdb: 6EOQ;6EOR;
length: 863
go: ENSG00000142002;
name:
Dipeptidyl peptidase 9 (DP9) (EC 3.4.14.5) (Dipeptidyl peptidase IV-related protein 2) (DPRP-2) (Dipeptidyl peptidase IX) (DPP IX) (Dipeptidyl peptidase-like protein 9) (DPLP9)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; aminopeptidase activity [GO:0004177]; identical protein binding [GO:0042802]; serine-type peptidase activity [GO:0008236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=DPP9-S, Short; IsoId=Q86TI2-1; Sequence=Displayed; Name=2; Synonyms=DPP9-L, Long; IsoId=Q86TI2-2; Sequence=VSP_013865; Note=Active peptidase. Contains a nuclear localization signal at positions 2-9. {ECO:0000269|PubMed:24562348}; Name=3; IsoId=Q86TI2-4; Sequence=VSP_013869; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytosol {ECO:0000269|PubMed:12662155, ECO:0000269|PubMed:15245913}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:24562348}.


uniprotID: Q1W209
geneSymbol: ESRG
name: Embryonic stem cell-related gene protein (hES cell-related gene protein)
length: 222
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23628413}.
sequence:


uniprotID: Q6W0C5
geneSymbol: DPPA3
name: Developmental pluripotency-associated protein 3 (Stella-related protein)
length: 159
go: ENSG00000187569;
snps: rs2024320
sequence:
MDPSQFNPTYIPGSPQMLTEENSRDDSGASQISSETLIKNLSNLTINASSESVSPLSEALLRRESVGAAVLREIEDEWLYSRRGVRTLLSVQREKMARLRYMLLGGVRTHERRPTNKEPKGVKKESRPFKCPCSFCVSNGWDPSENARIGNQDTKPLQP

opentargets:
cytoplasm [GO:0005737]; female pronucleus [GO:0001939]; nucleus [GO:0005634]; methylated histone binding [GO:0035064]; chromatin organization [GO:0006325]; negative regulation of DNA demethylation [GO:1901536]; protection of DNA demethylation of female pronucleus [GO:0044726]; regulation of genetic imprinting [GO:2000653]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21421998}. Cytoplasm {ECO:0000269|PubMed:21421998}. Note=Mainly localizes in the female pronucleus, localization to the male pronucleus in much weaker. {ECO:0000250}.


uniprotID: Q9H069
geneSymbol: DRC3
name: Dynein regulatory complex subunit 3 (Leucine-rich repeat-containing protein 48)
length: 523
go: ENSG00000171962;
opentargets: axoneme [GO:0005930]; cytoplasm [GO:0005737]; motile cilium [GO:0031514]
snps: rs8072048 rs4584886 rs11656629
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H069-1; Sequence=Displayed; Name=2; IsoId=Q9H069-2; Sequence=VSP_017578, VSP_017579; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:23354437}. Cell projection, cilium {ECO:0000269|PubMed:27120127}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8IVX2}.


uniprotID: Q8NEE6
geneSymbol: FBXL13
reactome: R-HSA-8951664;R-HSA-983168;
length: 735
go: ENSG00000161040;
snps: rs7805950 rs17135923 rs17135873 rs17136118 rs17852944
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8JHD7}.
name:
Dynein regulatory complex subunit 6 (F-box and leucine-rich repeat protein 13) (F-box/LRR-repeat protein 13)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; motile cilium [GO:0031514]; SCF ubiquitin ligase complex [GO:0019005]; ubiquitin-protein transferase activity [GO:0004842]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NEE6-1; Sequence=Displayed; Name=2; IsoId=Q8NEE6-2; Sequence=VSP_013004; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEE6-3; Sequence=VSP_013005; Name=4; IsoId=Q8NEE6-4; Sequence=VSP_013003; 


uniprotID: P21918
geneSymbol: DRD5
reactome: R-HSA-390651;R-HSA-418555;
name: D(1B) dopamine receptor (D(5) dopamine receptor) (D1beta dopamine receptor) (Dopamine D5 receptor)
length: 477
go: ENSG00000169676;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
brush border membrane [GO:0031526]; ciliary membrane [GO:0060170]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; dopamine binding [GO:0035240]; dopamine neurotransmitter receptor activity [GO:0004952]; dopamine neurotransmitter receptor activity, coupled via Gs [GO:0001588]; G-protein alpha-subunit binding [GO:0001965]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; associative learning [GO:0008306]; cellular calcium ion homeostasis [GO:0006874]; cellular response to catecholamine stimulus [GO:0071870]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; long-term synaptic depression [GO:0060292]; negative regulation of blood pressure [GO:0045776]; negative regulation of NAD(P)H oxidase activity [GO:0033861]; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure [GO:0001994]; phospholipase C-activating dopamine receptor signaling pathway [GO:0060158]; positive regulation of adenylate cyclase activity [GO:0045762]; reactive oxygen species metabolic process [GO:0072593]; regulation of female receptivity [GO:0045924]; regulation of systemic arterial blood pressure by vasopressin [GO:0001992]; response to amphetamine [GO:0001975]; response to cocaine [GO:0042220]; sensitization [GO:0046960]; synaptic transmission, dopaminergic [GO:0001963]; transmission of nerve impulse [GO:0019226]; wound healing [GO:0042060]

drug:
DB00714;DB01238;DB01200;DB00248;DB01038;DB00477;DB00568;DB00988;DB00696;DB00800;DB00458;DB01235;DB00589;DB00408;DB01403;DB06148;DB00370;DB00334;DB01186;DB00413;DB01224;DB00268;DB05271;DB00726;DB00246;DB01624;

snps:
rs2227840 rs6282 rs2227849 rs2227845 rs2227843 rs2227852 rs538877978 rs2227850 rs2227851 rs1800762 rs776114395 


uniprotID: Q9H410
geneSymbol: DSN1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-6798695;R-HSA-68877;
pdb: 5LSI;5LSJ;5LSK;
name: Kinetochore-associated protein DSN1 homolog
length: 356
go: ENSG00000149636;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome inner kinetochore [GO:0000941]; cytosol [GO:0005829]; extracellular region [GO:0005576]; fibrillar center [GO:0001650]; MIS12/MIND type complex [GO:0000444]; nuclear body [GO:0016604]; nuclear MIS12/MIND complex [GO:0000818]; nucleolus [GO:0005730]; nucleus [GO:0005634]; spindle pole [GO:0000922]; cell division [GO:0051301]; mitotic sister chromatid segregation [GO:0000070]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H410-1; Sequence=Displayed; Name=2; IsoId=Q9H410-2; Sequence=VSP_003826; Note=No experimental confirmation available.; Name=4; IsoId=Q9H410-4; Sequence=VSP_044281; Name=3; IsoId=Q9H410-3; Sequence=VSP_043204; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270}. Note=Associated with the kinetochore. {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270}.


uniprotID: Q30KQ9
geneSymbol: DEFB110
reactome: R-HSA-1461957;R-HSA-1461973;
sequence: MKIQLFFFILHFWVTILPAKKKYPEYGSLDLRRECRIGNGQCKNQCHENEIRIAYCIRPGTHCCLQQ
length: 67
go: ENSG00000203970;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Beta-defensin 110 (Beta-defensin 10) (DEFB-10) (Beta-defensin 11) (DEFB-11) (Beta-defensin 111) (Defensin, beta 110) (Defensin, beta 111)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q30KQ9-1; Sequence=Displayed; Name=2; IsoId=Q30KQ9-2; Sequence=VSP_038146; 


uniprotID: Q9UK59
geneSymbol: DBR1
name: Lariat debranching enzyme (EC 3.1.-.-)
length: 544
go: ENSG00000138231;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; RNA lariat debranching enzyme activity [GO:0008419]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing, via transesterification reactions [GO:0000375]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UK59-1; Sequence=Displayed; Name=2; IsoId=Q9UK59-2; Sequence=VSP_020631, VSP_020632; Note=No experimental confirmation available.; 


uniprotID: Q6ZNG2
geneSymbol: DBX2
name: Homeobox protein DBX2 (Developing brain homeobox protein 2)
length: 339
go: ENSG00000185610;
snps: rs2731038
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]


uniprotID: A8MXU0
geneSymbol: DEFB108A; DEFB108C
reactome: R-HSA-1461957;
sequence: MRIAVLFFTIFFFMSQVLPAKGKFKEICERPNGSCRDFCLETEIHVGRCLNSRPCCLPLGHQPRIESTTPKKD
length: 73
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Putative beta-defensin 108A (Defensin, beta 108A) (Defensin, beta 108C) (Putative beta-defensin 108B pseudogene 1/2)


uniprotID: Q05329
geneSymbol: GAD2
reactome: R-HSA-888568;R-HSA-888590;
pdb: 1ES0;2OKK;
length: 585
go: ENSG00000136750;
drug: DB00142;
snps: rs8190591 rs8190600 rs2839672 rs2839673 rs8190671 rs2839678 rs8190730
name:
Glutamate decarboxylase 2 (EC 4.1.1.15) (65 kDa glutamic acid decarboxylase) (GAD-65) (Glutamate decarboxylase 65 kDa isoform)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; axon [GO:0030424]; cell junction [GO:0030054]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; inhibitory synapse [GO:0060077]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; synaptic vesicle membrane [GO:0030672]; glutamate binding [GO:0016595]; glutamate decarboxylase activity [GO:0004351]; protein heterodimerization activity [GO:0046982]; pyridoxal phosphate binding [GO:0030170]; chemical synaptic transmission [GO:0007268]; glutamate decarboxylation to succinate [GO:0006540]; neurotransmitter biosynthetic process [GO:0042136]; response to drug [GO:0042493]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12356867}. Cytoplasmic vesicle {ECO:0000269|PubMed:12356867}. Cell junction, synapse, presynaptic cell membrane {ECO:0000269|PubMed:12356867}; Lipid-anchor {ECO:0000269|PubMed:12356867}. Golgi apparatus membrane {ECO:0000269|PubMed:12356867}; Peripheral membrane protein {ECO:0000269|PubMed:12356867}; Cytoplasmic side {ECO:0000269|PubMed:12356867}. Note=Associated to cytoplasmic vesicles. In neurons, cytosolic leaflet of Golgi membranes and presynaptic clusters.


uniprotID: Q9C098
geneSymbol: DCLK3
length: 648
go: ENSG00000163673;
snps: rs56070233 rs373605259 rs374711533 rs35704209
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Serine/threonine-protein kinase DCLK3 (EC 2.7.11.1) (Doublecortin domain-containing protein 3C) (Doublecortin-like and CAM kinase-like 3) (Doublecortin-like kinase 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; negative regulation of protein localization to nucleus [GO:1900181]; peptidyl-serine phosphorylation [GO:0018105]


uniprotID: Q6PH85
geneSymbol: DCUN1D2
reactome: R-HSA-8951664;
pdb: 4GAO;
length: 259
go: ENSG00000150401;
name:
DCN1-like protein 2 (DCUN1 domain-containing protein 2) (Defective in cullin neddylation protein 1-like protein 2)

sequence:

opentargets:
ubiquitin ligase complex [GO:0000151]; cullin family protein binding [GO:0097602]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin-like protein binding [GO:0032182]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; protein neddylation [GO:0045116]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PH85-1; Sequence=Displayed; Name=2; IsoId=Q6PH85-2; Sequence=VSP_015315, VSP_015316; Note=No experimental confirmation available.; 


uniprotID: Q92564
geneSymbol: DCUN1D4
reactome: R-HSA-8951664;
pdb: 5V89;
length: 292
go: ENSG00000109184;
name:
DCN1-like protein 4 (DCUN1 domain-containing protein 4) (Defective in cullin neddylation protein 1-like protein 4)

sequence:

opentargets:
nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; cullin family protein binding [GO:0097602]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin-like protein binding [GO:0032182]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; protein neddylation [GO:0045116]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92564-1; Sequence=Displayed; Name=2; IsoId=Q92564-2; Sequence=VSP_016016; Note=No experimental confirmation available.; Name=3; IsoId=Q92564-3; Sequence=VSP_054381; Note=No experimental confirmation available.; 


uniprotID: Q99259
geneSymbol: GAD1
reactome: R-HSA-888568;R-HSA-888590;
pdb: 2OKJ;3VP6;
length: 594
go: ENSG00000128683;
drug: DB00142;DB00114;
snps: rs121918345 rs45566933 rs769403 rs769402 rs1049736
name:
Glutamate decarboxylase 1 (EC 4.1.1.15) (67 kDa glutamic acid decarboxylase) (GAD-67) (Glutamate decarboxylase 67 kDa isoform)

sequence:

opentargets:
axon terminus [GO:0043679]; cell cortex [GO:0005938]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; inhibitory synapse [GO:0060077]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; vesicle membrane [GO:0012506]; glutamate binding [GO:0016595]; glutamate decarboxylase activity [GO:0004351]; protein heterodimerization activity [GO:0046982]; protein N-terminus binding [GO:0047485]; pyridoxal phosphate binding [GO:0030170]; chemical synaptic transmission [GO:0007268]; gamma-aminobutyric acid biosynthetic process [GO:0009449]; glutamate catabolic process [GO:0006538]; glutamate decarboxylation to succinate [GO:0006540]; locomotory exploration behavior [GO:0035641]; protein-pyridoxal-5-phosphate linkage [GO:0018352]; response to drug [GO:0042493]; social behavior [GO:0035176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GAD67; IsoId=Q99259-1; Sequence=Displayed; Name=2; IsoId=Q99259-2; Sequence=Not described; Name=3; Synonyms=GAD25; IsoId=Q99259-3; Sequence=VSP_009123, VSP_009124; Note=Lacks enzymatic activity.; Name=4; IsoId=Q99259-4; Sequence=VSP_054473, VSP_054474; Note=No experimental confirmation available.; 


uniprotID: Q8IU60
geneSymbol: DCP2
reactome: R-HSA-380994;R-HSA-430039;R-HSA-450385;R-HSA-450513;R-HSA-450604;
pdb: 5MP0;
length: 420
go: ENSG00000172795;
snps: rs33555
name:
m7GpppN-mRNA hydrolase (EC 3.6.1.62) (Nucleoside diphosphate-linked moiety X motif 20) (Nudix motif 20) (mRNA-decapping enzyme 2) (hDpc)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; P-body [GO:0000932]; RISC complex [GO:0016442]; 5'-3' exoribonuclease activity [GO:0004534]; exoribonuclease activity, producing 5'-phosphomonoesters [GO:0016896]; m7G(5')pppN diphosphatase activity [GO:0050072]; manganese ion binding [GO:0030145]; telomerase RNA binding [GO:0070034]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; histone mRNA catabolic process [GO:0071044]; mRNA catabolic process [GO:0006402]; negative regulation of telomere maintenance via telomerase [GO:0032211]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of mRNA stability [GO:0043488]; regulation of telomerase RNA localization to Cajal body [GO:1904872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IU60-1; Sequence=Displayed; Name=2; IsoId=Q8IU60-2; Sequence=VSP_012908; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:15067023, ECO:0000269|PubMed:15273322, ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:20616046}. Nucleus {ECO:0000269|PubMed:15273322}. Note=Predominantly cytoplasmic, in processing bodies (PB) (PubMed:15273322). A minor amount is nuclear (PubMed:15273322). {ECO:0000269|PubMed:15273322, ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:20616046}.


uniprotID: Q8N568
geneSymbol: DCLK2
length: 766
go: ENSG00000170390;
snps: rs56327537 rs759398144 rs34386880 rs35745104
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. {ECO:0000250}.
name:
Serine/threonine-protein kinase DCLK2 (EC 2.7.11.1) (CaMK-like CREB regulatory kinase 2) (CL2) (CLICK-II) (CLICK2) (Doublecortin domain-containing protein 3B) (Doublecortin-like and CAM kinase-like 2) (Doublecortin-like kinase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; hippocampus development [GO:0021766]; intracellular signal transduction [GO:0035556]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of protein localization to nucleus [GO:1900181]; peptidyl-serine phosphorylation [GO:0018105]; pyramidal neuron development [GO:0021860]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N568-1; Sequence=Displayed; Name=2; IsoId=Q8N568-2; Sequence=VSP_012794; Note=By homology to mouse isoform 2.; Name=3; IsoId=Q8N568-3; Sequence=VSP_012793; 


uniprotID: Q5T197
geneSymbol: DCST1
length: 706
go: ENSG00000163357;
snps: rs9427170 rs11264300
name:
E3 ubiquitin-protein ligase DCST1 (EC 2.3.2.27) (DC-STAMP domain-containing protein 1) (RING-type E3 ubiquitin transferase)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; innate immune response [GO:0045087]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T197-1; Sequence=Displayed; Name=2; IsoId=Q5T197-2; Sequence=VSP_023406, VSP_023407; Note=No experimental confirmation available.; Name=3; IsoId=Q5T197-3; Sequence=VSP_045619; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27782195}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q96C86
geneSymbol: DCPS
reactome: R-HSA-429958;
pdb: 1ST0;1ST4;1XML;1XMM;3BL7;3BL9;3BLA;4QDE;4QDV;4QEB;5OSY;
length: 337
go: ENSG00000110063;
drug: DB01649;DB03958;DB01960;DB03593;
snps: rs11557735 rs137941190
name:
m7GpppX diphosphatase (EC 3.6.1.59) (DCS-1) (Decapping scavenger enzyme) (Hint-related 7meGMP-directed hydrolase) (Histidine triad nucleotide-binding protein 5) (Histidine triad protein member 5) (HINT-5) (Scavenger mRNA-decapping enzyme DcpS)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; exoribonuclease activity [GO:0004532]; m7G(5')pppN diphosphatase activity [GO:0050072]; RNA 7-methylguanosine cap binding [GO:0000340]; cellular response to menadione [GO:0036245]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; mRNA cis splicing, via spliceosome [GO:0045292]; negative regulation of programmed cell death [GO:0043069]; nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:0000288]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly localized in the nucleus. Nucleocytoplasmic shuttling protein that can transiently enter the cytoplasm in mammalian cells in a XPO1/CRM1-dependent manner.


uniprotID: Q92997
geneSymbol: DVL3
reactome: R-HSA-201681;R-HSA-201688;R-HSA-4086400;R-HSA-4641258;R-HSA-4641262;R-HSA-5368598;R-HSA-5663220;
name: Segment polarity protein dishevelled homolog DVL-3 (Dishevelled-3) (DSH homolog 3)
length: 716
go: ENSG00000161202;
snps: rs17853048
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O14641}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; beta-catenin binding [GO:0008013]; frizzled binding [GO:0005109]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; Rac GTPase binding [GO:0048365]; signaling receptor binding [GO:0005102]; beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; intracellular signal transduction [GO:0035556]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; non-canonical Wnt signaling pathway [GO:0035567]; non-canonical Wnt signaling pathway via JNK cascade [GO:0038031]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of GTPase activity [GO:0043547]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; protein stabilization [GO:0050821]; regulation of cellular protein localization [GO:1903827]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92997-1; Sequence=Displayed; Name=2; IsoId=Q92997-2; Sequence=VSP_053371; Note=No experimental confirmation available.; 


uniprotID: Q9Y4J8
geneSymbol: DTNA
pdb: 2E5R;
name: Dystrobrevin alpha (DTN-A) (Alpha-dystrobrevin) (Dystrophin-related protein 3)
length: 743
go: ENSG00000134769;
snps: rs104894654 rs1048081
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; synapse [GO:0045202]; PDZ domain binding [GO:0030165]; zinc ion binding [GO:0008270]; chemical synaptic transmission [GO:0007268]; neuromuscular synaptic transmission [GO:0007274]; signal transduction [GO:0007165]; striated muscle contraction [GO:0006941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=16;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=DTN-1; IsoId=Q9Y4J8-1; Sequence=Displayed; Name=2; Synonyms=Dystrobrevin-alpha; IsoId=Q9Y4J8-2; Sequence=VSP_004208; Name=3; Synonyms=DTN-2; IsoId=Q9Y4J8-3; Sequence=VSP_004212, VSP_004213; Name=4; Synonyms=Dystrobrevin-beta; IsoId=Q9Y4J8-4; Sequence=VSP_004207, VSP_004212, VSP_004213; Name=5; Synonyms=Dystrobrevin-gamma; IsoId=Q9Y4J8-5; Sequence=VSP_004208, VSP_004212, VSP_004213; Name=6; Synonyms=Dystrobrevin-epsilon; IsoId=Q9Y4J8-6; Sequence=VSP_004206, VSP_004207, VSP_004211; Name=7; Synonyms=DTN-3, Alpha-dystrobrevin-3, Dystrobrevin-delta; IsoId=Q9Y4J8-7; Sequence=VSP_004209, VSP_004210; Name=8; Synonyms=Dystrobrevin-zeta; IsoId=Q9Y4J8-8; Sequence=VSP_004206, VSP_004207, VSP_004208, VSP_004212, VSP_004213; Name=9; IsoId=Q9Y4J8-9; Sequence=VSP_004207, VSP_004209, VSP_004210; Name=10; IsoId=Q9Y4J8-10; Sequence=VSP_004206, VSP_004207, VSP_043824; Name=11; IsoId=Q9Y4J8-11; Sequence=VSP_004206, VSP_004207, VSP_045444; Name=12; IsoId=Q9Y4J8-12; Sequence=VSP_047532, VSP_004212, VSP_004213; Note=No experimental confirmation available.; Name=13; IsoId=Q9Y4J8-13; Sequence=VSP_004207, VSP_004208; Note=No experimental confirmation available.; Name=14; IsoId=Q9Y4J8-14; Sequence=VSP_004207, VSP_004208, VSP_054816; Note=Gene prediction based on EST data.; Name=15; IsoId=Q9Y4J8-15; Sequence=VSP_004207, VSP_004208, VSP_054817; Note=Gene prediction based on EST data.; Name=16; IsoId=Q9Y4J8-16; Sequence=VSP_004207, VSP_004208, VSP_004212, VSP_004213; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, synapse. Cell membrane {ECO:0000250}. Note=In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane. {ECO:0000250}.


uniprotID: O60941
geneSymbol: DTNB
name: Dystrobrevin beta (DTN-B) (Beta-dystrobrevin)
length: 627
go: ENSG00000138101;
opentargets: cytoplasm [GO:0005737]; zinc ion binding [GO:0008270]
snps: rs17854576 rs17854577
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=DTN-B1; IsoId=O60941-1; Sequence=Displayed; Name=2; Synonyms=Dystrophin-associated protein A0; IsoId=O60941-2; Sequence=VSP_004223, VSP_004226; Name=3; Synonyms=DTN-B2; IsoId=O60941-3; Sequence=VSP_004224, VSP_004225; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=O60941-4; Sequence=VSP_004226; Name=5; IsoId=O60941-5; Sequence=VSP_004223, VSP_043445, VSP_004226; Name=6; IsoId=O60941-6; Sequence=VSP_045534, VSP_043445, VSP_045535; Note=No experimental confirmation available.; Name=7; IsoId=O60941-7; Sequence=VSP_045535; Note=No experimental confirmation available.; 


uniprotID: Q9H1R2
geneSymbol: DUSP15
pdb: 1YZ4;
length: 295
go: ENSG00000149599;
name:
Dual specificity protein phosphatase 15 (EC 3.1.3.16) (EC 3.1.3.48) (VH1-related member Y) (Vaccinia virus VH1-related dual-specific protein phosphatase Y)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]; positive regulation of JNK cascade [GO:0046330]; regulation of cell proliferation [GO:0042127]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H1R2-1; Sequence=Displayed; Name=2; IsoId=Q9H1R2-2; Sequence=VSP_007292, VSP_007293; Note=Derived from EST data.; Name=3; Synonyms=A; IsoId=Q9H1R2-3; Sequence=VSP_019228, VSP_007292, VSP_007293; Name=4; IsoId=Q9H1R2-4; Sequence=VSP_043107, VSP_007292, VSP_007293; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:15138252}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Lipid-anchor; Cytoplasmic side.


uniprotID: Q13202
geneSymbol: DUSP8
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 4JMK;
length: 625
go: ENSG00000184545;
name:
Dual specificity protein phosphatase 8 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase hVH-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]; inactivation of MAPK activity [GO:0000188]; protein dephosphorylation [GO:0006470]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O09112}. Nucleus {ECO:0000250|UniProtKB:O09112}.


uniprotID: Q02487
geneSymbol: DSC2
reactome: R-HSA-6805567;R-HSA-6809371;
pdb: 5ERP;5J5J;
length: 901
go: ENSG00000134755;
name:
Desmocollin-2 (Cadherin family member 2) (Desmocollin-3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cornified envelope [GO:0001533]; cytoplasmic vesicle [GO:0031410]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intercalated disc [GO:0014704]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication [GO:0086083]; bundle of His cell-Purkinje myocyte adhesion involved in cell communication [GO:0086073]; cardiac muscle cell-cardiac muscle cell adhesion [GO:0086042]; cell adhesion [GO:0007155]; cellular response to starvation [GO:0009267]; cornification [GO:0070268]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinization [GO:0031424]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]

snps:
rs868333 rs142331975 rs397517404 rs368299411 rs139399951 rs148185335 rs147742157 rs1893963 rs61731921 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2A; Synonyms=DGII; IsoId=Q02487-1; Sequence=Displayed; Name=2B; Synonyms=DGIII; IsoId=Q02487-2; Sequence=VSP_000657, VSP_000658; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21062920}; Single-pass type I membrane protein {ECO:0000269|PubMed:21062920}. Cell junction, desmosome {ECO:0000269|PubMed:21062920}.


uniprotID: Q8N9I9
geneSymbol: DTX3
length: 347
go: ENSG00000178498;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Probable E3 ubiquitin-protein ligase DTX3 (EC 2.3.2.27) (Protein deltex-3) (Deltex3) (RING finger protein 154) (RING-type E3 ubiquitin transferase DTX3)

sequence:

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; Notch signaling pathway [GO:0007219]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9I9-1; Sequence=Displayed; Name=2; IsoId=Q8N9I9-2; Sequence=VSP_008354; Note=No experimental confirmation available.; 


uniprotID: Q9BY84
geneSymbol: DUSP16
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 2VSW;3TG3;4YR8;
length: 665
go: ENSG00000111266;
snps: rs36049447 rs3809199
name:
Dual specificity protein phosphatase 16 (EC 3.1.3.16) (EC 3.1.3.48) (Mitogen-activated protein kinase phosphatase 7) (MAP kinase phosphatase 7) (MKP-7)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; phosphatase activity [GO:0016791]; phosphoprotein phosphatase activity [GO:0004721]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]; inactivation of MAPK activity [GO:0000188]; MAPK export from nucleus [GO:0045204]; MAPK phosphatase export from nucleus, leptomycin B sensitive [GO:0045209]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BY84-1; Sequence=Displayed; Name=2; IsoId=Q9BY84-2; Sequence=VSP_056981, VSP_056982; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasmic vesicle. Note=After dissociation upon AGTR stimulation, re-associates with ARRB2 on endocytic vesicles.


uniprotID: Q14574
geneSymbol: DSC3
reactome: R-HSA-6805567;R-HSA-6809371;
name: Desmocollin-3 (Cadherin family member 3) (Desmocollin-4) (HT-CP)
length: 896
go: ENSG00000134762;
snps: rs2852003 rs276937 rs276938 rs35296997 rs276921 rs35630063
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
sequence:

opentargets:
cell junction [GO:0030054]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; desmosome [GO:0030057]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; gamma-catenin binding [GO:0045295]; cell adhesion [GO:0007155]; cornification [GO:0070268]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; in utero embryonic development [GO:0001701]; keratinization [GO:0031424]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=3A; IsoId=Q14574-1; Sequence=Displayed; Name=3B; IsoId=Q14574-2; Sequence=VSP_000663, VSP_000664; 


uniprotID: Q9Y2E6
geneSymbol: DTX4
reactome: R-HSA-1606341;R-HSA-2122948;R-HSA-3134975;R-HSA-3270619;
length: 619
go: ENSG00000110042;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
E3 ubiquitin-protein ligase DTX4 (EC 2.3.2.27) (Protein deltex-4) (Deltex4) (RING finger protein 155) (RING-type E3 ubiquitin transferase DTX4)

sequence:

opentargets:
cytosol [GO:0005829]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; Notch signaling pathway [GO:0007219]; regulation of type I interferon production [GO:0032479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2E6-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E6-2; Sequence=VSP_023784; 


uniprotID: Q8TEA8
geneSymbol: DTD1
pdb: 2OKV;
length: 209
go: ENSG00000125821;
name:
D-aminoacyl-tRNA deacylase 1 (DTD) (EC 3.1.1.96) (DNA-unwinding element-binding protein B) (DUE-B) (Gly-tRNA(Ala) deacylase) (EC 3.1.1.-) (Histidyl-tRNA synthase-related)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; aminoacyl-tRNA editing activity [GO:0002161]; D-tyrosyl-tRNA(Tyr) deacylase activity [GO:0051500]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; tRNA binding [GO:0000049]; DNA replication [GO:0006260]; tRNA metabolic process [GO:0006399]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15653697, ECO:0000269|PubMed:20065034}. Cytoplasm {ECO:0000250|UniProtKB:Q8IIS0}. Note=Associated with chromatin at some replication origins containing functional DNA-unwinding elements (PubMed:20065034).


uniprotID: Q9HCM4
geneSymbol: EPB41L5
reactome: R-HSA-6794361;
name: Band 4.1-like protein 5
length: 733
go: ENSG00000115109;
snps: rs28930677 rs1034489
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; cytoskeletal protein binding [GO:0008092]; protein domain specific binding [GO:0019904]; actomyosin structure organization [GO:0031032]; apical constriction [GO:0003383]; axial mesoderm morphogenesis [GO:0048319]; cellular response to transforming growth factor beta stimulus [GO:0071560]; ectoderm development [GO:0007398]; embryonic foregut morphogenesis [GO:0048617]; endoderm development [GO:0007492]; epithelial to mesenchymal transition [GO:0001837]; in utero embryonic development [GO:0001701]; left/right axis specification [GO:0070986]; mesoderm migration involved in gastrulation [GO:0007509]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of protein binding [GO:0032091]; neural plate morphogenesis [GO:0001839]; paraxial mesoderm development [GO:0048339]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of protein binding [GO:0032092]; posttranscriptional regulation of gene expression [GO:0010608]; regulation of establishment of protein localization [GO:0070201]; somite rostral/caudal axis specification [GO:0032525]; substrate-dependent cell migration, cell attachment to substrate [GO:0006931]; unidimensional cell growth [GO:0009826]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HCM4-1; Sequence=Displayed; Name=2; IsoId=Q9HCM4-2; Sequence=VSP_033034, VSP_033035; Name=3; IsoId=Q9HCM4-3; Sequence=VSP_033036; Note=No experimental confirmation available.; Name=4; IsoId=Q9HCM4-4; Sequence=VSP_033037, VSP_033038; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, adherens junction. Note=Associated with the plasma membrane. Colocalizes with CTNNB1, an adherens junction marker (By similarity). {ECO:0000250}.


uniprotID: Q8TE73
geneSymbol: DNAH5
name: Dynein heavy chain 5, axonemal (Axonemal beta dynein heavy chain 5) (Ciliary dynein heavy chain 5)
length: 4624
go: ENSG00000039139;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme.
sequence:

opentargets:
9+2 motile cilium [GO:0097729]; axoneme [GO:0005930]; dynein complex [GO:0030286]; microtubule [GO:0005874]; outer dynein arm [GO:0036157]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; cilium assembly [GO:0060271]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; flagellated sperm motility [GO:0030317]; heart development [GO:0007507]; lateral ventricle development [GO:0021670]; microtubule-based movement [GO:0007018]; outer dynein arm assembly [GO:0036158]

snps:
rs339445 rs1530496 rs1530498 rs35090077 rs35090077 rs34076967 rs4701997 rs4701997 rs16902886 rs16902880 rs542708170 rs74799487 rs78484669 rs35900306 rs10078391 rs78853309 rs77377082 rs10513155 rs727502973 rs755407407 rs79967166 rs17263496 rs78346432 rs30168 rs79185772 rs2277046 rs3734110 


uniprotID: P43005
geneSymbol: SLC1A1
reactome: R-HSA-210500;R-HSA-425393;R-HSA-5619067;
length: 524
go: ENSG00000106688;
drug: DB00128;DB00142;DB00230;
snps: rs2229885 rs2228621 rs587777696
name:
Excitatory amino acid transporter 3 (Excitatory amino-acid carrier 1) (Neuronal and epithelial glutamate transporter) (Sodium-dependent glutamate/aspartate transporter 3) (Solute carrier family 1 member 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; chloride transmembrane transporter activity [GO:0015108]; cysteine transmembrane transporter activity [GO:0033229]; glutamate binding [GO:0016595]; glutamate:sodium symporter activity [GO:0015501]; high-affinity glutamate transmembrane transporter activity [GO:0005314]; L-glutamate transmembrane transporter activity [GO:0005313]; metal ion binding [GO:0046872]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; cysteine transport [GO:0042883]; D-aspartate import across plasma membrane [GO:0070779]; glutamate secretion [GO:0014047]; ion transport [GO:0006811]; L-aspartate import across plasma membrane [GO:0140009]; L-glutamate import [GO:0051938]; L-glutamate import across plasma membrane [GO:0098712]; L-glutamate transmembrane transport [GO:0015813]; positive regulation of heart rate [GO:0010460]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21123949, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:7521911, ECO:0000269|PubMed:7914198, ECO:0000269|PubMed:8857541}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P43003}. Apical cell membrane {ECO:0000269|PubMed:21123949}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P43003}.


uniprotID: Q96FN9
geneSymbol: DTD2
length: 168
go: ENSG00000129480;
snps: rs17097904
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
D-aminoacyl-tRNA deacylase 2 (EC 3.1.1.96) (Animalia-specific tRNA deacylase) (ATD) (D-tyrosyl-tRNA(Tyr) deacylase 2) (L-alanyl-tRNA deacylase) (EC 3.1.1.-)

sequence:
MAEGSRIPQARALLQQCLHARLQIRPADGDVAAQWVEVQRGLVIYVCFFKGADKELLPKMVNTLLNVKLSETENGKHVSILDLPGNILIIPQATLGGRLKGRNMQYHSNSGKEEGFELYSQFVTLCEKEVAANSKCAEARVVVEHGTYGNRQVLKLDTNGPFTHLIEF

opentargets:
cytoplasm [GO:0005737]; Ala-tRNA(Thr) hydrolase activity [GO:0106105]; aminoacyl-tRNA editing activity [GO:0002161]; D-tyrosyl-tRNA(Tyr) deacylase activity [GO:0051500]; tRNA binding [GO:0000049]; aminoacyl-tRNA metabolism involved in translational fidelity [GO:0106074]; tRNA metabolic process [GO:0006399]


uniprotID: P28562
geneSymbol: DUSP1
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 6APX;6D65;6D66;6D67;
length: 367
go: ENSG00000120129;
snps: rs34013988 rs34471628
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q91790}.
name:
Dual specificity protein phosphatase 1 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase hVH1) (Mitogen-activated protein kinase phosphatase 1) (MAP kinase phosphatase 1) (MKP-1) (Protein-tyrosine phosphatase CL100)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; growth factor binding [GO:0019838]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; mitogen-activated protein kinase binding [GO:0051019]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; protein tyrosine/threonine phosphatase activity [GO:0008330]; cellular response to chemokine [GO:1990869]; cellular response to hormone stimulus [GO:0032870]; inactivation of MAPK activity [GO:0000188]; intracellular signal transduction [GO:0035556]; mitotic cell cycle arrest [GO:0071850]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of meiotic cell cycle [GO:0051447]; negative regulation of monocyte chemotaxis [GO:0090027]; negative regulation of p38MAPK cascade [GO:1903753]; peptidyl-serine dephosphorylation [GO:0070262]; peptidyl-threonine dephosphorylation [GO:0035970]; peptidyl-tyrosine dephosphorylation [GO:0035335]; positive regulation of apoptotic process [GO:0043065]; regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090266]; response to calcium ion [GO:0051592]; response to cAMP [GO:0051591]; response to estradiol [GO:0032355]; response to glucocorticoid [GO:0051384]; response to hydrogen peroxide [GO:0042542]; response to light stimulus [GO:0009416]; response to retinoic acid [GO:0032526]; response to testosterone [GO:0033574]


uniprotID: Q9NZJ5
geneSymbol: EIF2AK3
reactome: R-HSA-381042;
pdb: 4G31;4G34;4M7I;4X7H;4X7J;4X7K;4X7L;4X7N;4X7O;4YZS;5SV7;
length: 1116
go: ENSG00000172071;
snps: rs867529 rs13045 rs55791823 rs121908569 rs1805165 rs55861585
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein.
name:
Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosolic ribosome [GO:0022626]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; eukaryotic translation initiation factor 2alpha kinase activity [GO:0004694]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; angiogenesis [GO:0001525]; bone mineralization [GO:0030282]; calcium-mediated signaling [GO:0019722]; cellular response to amino acid starvation [GO:0034198]; cellular response to cold [GO:0070417]; cellular response to glucose starvation [GO:0042149]; chondrocyte development [GO:0002063]; eiF2alpha phosphorylation in response to endoplasmic reticulum stress [GO:0036492]; endocrine pancreas development [GO:0031018]; endoplasmic reticulum organization [GO:0007029]; endoplasmic reticulum unfolded protein response [GO:0030968]; ER overload response [GO:0006983]; insulin-like growth factor receptor signaling pathway [GO:0048009]; negative regulation of myelination [GO:0031642]; negative regulation of translation [GO:0017148]; negative regulation of translational initiation in response to stress [GO:0032057]; ossification [GO:0001503]; peptidyl-serine phosphorylation [GO:0018105]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of gene expression [GO:0010628]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription by RNA polymerase I [GO:0045943]; positive regulation of vascular endothelial growth factor production [GO:0010575]; protein autophosphorylation [GO:0046777]; protein homooligomerization [GO:0051260]; protein phosphorylation [GO:0006468]; regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation [GO:0060734]; regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902235]; regulation of translational initiation by eIF2 alpha phosphorylation [GO:0010998]; response to endoplasmic reticulum stress [GO:0034976]; response to manganese-induced endoplasmic reticulum stress [GO:1990737]; skeletal system development [GO:0001501]


uniprotID: Q13838
geneSymbol: DDX39B
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
pdb: 1T5I;1T6N;1XTI;1XTJ;1XTK;
length: 428
go: ENSG00000198563;
drug: DB02325;
name:
Spliceosome RNA helicase DDX39B (EC 3.6.4.13) (56 kDa U2AF65-associated protein) (ATP-dependent RNA helicase p47) (DEAD box protein UAP56) (HLA-B-associated transcript 1 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; transcription export complex [GO:0000346]; ATP binding [GO:0005524]; ATP-dependent protein binding [GO:0043008]; ATP-dependent RNA helicase activity [GO:0004004]; ATPase activity [GO:0016887]; identical protein binding [GO:0042802]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; RNA-dependent ATPase activity [GO:0008186]; U4 snRNA binding [GO:0030621]; U6 snRNA binding [GO:0017070]; liver development [GO:0001889]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of DNA damage checkpoint [GO:2000002]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; positive regulation of translation [GO:0045727]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; RNA export from nucleus [GO:0006405]; RNA secondary structure unwinding [GO:0010501]; RNA splicing [GO:0008380]; spliceosomal complex assembly [GO:0000245]; viral mRNA export from host cell nucleus [GO:0046784]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13838-1; Sequence=Displayed; Name=2; IsoId=Q13838-2; Sequence=VSP_026347; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Cytoplasm. Note=Can translocate to the cytoplasm in the presence of MX1. TREX complex assembly seems to occur in regions surrounding nuclear speckles known as perispeckles.


uniprotID: P51452
geneSymbol: DUSP3
reactome: R-HSA-202670;
pdb: 1J4X;1VHR;3F81;
length: 185
go: ENSG00000108861;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10224087}.
name:
Dual specificity protein phosphatase 3 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase VHR) (Vaccinia H1-related phosphatase) (VHR)

sequence:
MSGSFELSVQDLNDLLSDGSGCYSLPSQPCNEVTPRIYVGNASVAQDIPKLQKLGITHVLNAAEGRSFMHVNTNANFYKDSGITYLGIKANDTQEFNLSAYFERAADFIDQALAQKNGRVLVHCREGYSRSPTLVIAYLMMRQKMDVKSALSIVRQNREIGPNDGFLAQLCQLNDRLAKEGKLKP

opentargets:
cytosol [GO:0005829]; immunological synapse [GO:0001772]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cytoskeletal protein binding [GO:0008092]; MAP kinase phosphatase activity [GO:0033549]; phosphatase activity [GO:0016791]; protein kinase binding [GO:0019901]; protein tyrosine kinase binding [GO:1990782]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; receptor tyrosine kinase binding [GO:0030971]; cellular response to epidermal growth factor stimulus [GO:0071364]; dephosphorylation [GO:0016311]; inactivation of MAPK activity [GO:0000188]; negative regulation of cell migration [GO:0030336]; negative regulation of chemotaxis [GO:0050922]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of JNK cascade [GO:0046329]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of T cell activation [GO:0050868]; negative regulation of T cell receptor signaling pathway [GO:0050860]; peptidyl-tyrosine dephosphorylation [GO:0035335]; peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity [GO:1990264]; positive regulation of focal adhesion disassembly [GO:0120183]; positive regulation of mitotic cell cycle [GO:0045931]; regulation of focal adhesion assembly [GO:0051893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51452-1; Sequence=Displayed; Name=2; IsoId=P51452-2; Sequence=VSP_056284; Note=No experimental confirmation available.; 


uniprotID: P63167
geneSymbol: DYNLL1
pdb: 1CMI;3ZKE;3ZKF;
sequence: MCDRKAVIKNADMSEEMQQDSVECATQALEKYNIEKDIAAHIKKEFDKKYNPTWHCIVGRNFGSYVTHETKHFIYFYLGQVAILLFKSG
length: 89
go: ENSG00000088986;
reactome:
R-HSA-111446;R-HSA-141444;R-HSA-1632852;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5620924;R-HSA-5663220;R-HSA-6798695;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;R-HSA-8854518;

name:
Dynein light chain 1, cytoplasmic (8 kDa dynein light chain) (DLC8) (Dynein light chain LC8-type 1) (Protein inhibitor of neuronal nitric oxide synthase) (PIN)

opentargets:
axon cytoplasm [GO:1904115]; centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; dynein complex [GO:0030286]; ficolin-1-rich granule membrane [GO:0101003]; kinetochore [GO:0000776]; membrane [GO:0016020]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; dynein intermediate chain binding [GO:0045505]; dynein light intermediate chain binding [GO:0051959]; enzyme binding [GO:0019899]; motor activity [GO:0003774]; nitric-oxide synthase regulator activity [GO:0030235]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; scaffold protein binding [GO:0097110]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; apoptotic process [GO:0006915]; ciliary basal body-plasma membrane docking [GO:0097711]; ER to Golgi vesicle-mediated transport [GO:0006888]; G2/M transition of mitotic cell cycle [GO:0000086]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]; macroautophagy [GO:0016236]; motile cilium assembly [GO:0044458]; negative regulation of phosphorylation [GO:0042326]; neutrophil degranulation [GO:0043312]; positive regulation of ATP-dependent microtubule motor activity, plus-end-directed [GO:2000582]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of non-motile cilium assembly [GO:1902857]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spermatid development [GO:0007286]; substantia nigra development [GO:0021762]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton. Nucleus. Mitochondrion. Note=Upon induction of apoptosis translocates together with BCL2L11 to mitochondria.


uniprotID: Q8TD84
geneSymbol: DSCAML1
reactome: R-HSA-376172;
pdb: 1VA9;
name: Down syndrome cell adhesion molecule-like protein 1 (Down syndrome cell adhesion molecule 2)
length: 2053
go: ENSG00000177103;
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cell surface [GO:0009986]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; cell-cell adhesion mediator activity [GO:0098632]; protein homodimerization activity [GO:0042803]; axon guidance [GO:0007411]; axonogenesis [GO:0007409]; brain development [GO:0007420]; cell fate determination [GO:0001709]; central nervous system development [GO:0007417]; dendrite self-avoidance [GO:0070593]; dorsal/ventral pattern formation [GO:0009953]; embryonic skeletal system morphogenesis [GO:0048704]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=1a; IsoId=Q8TD84-1; Sequence=Displayed; Name=2; Synonyms=1b; IsoId=Q8TD84-2; Sequence=VSP_014978; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11453658}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, synapse {ECO:0000250|UniProtKB:E1C8P7}.


uniprotID: Q6P2I7
geneSymbol: EBLN2
name: Endogenous Bornavirus-like nucleoprotein 2 (Endogenous Borna-like N element-2) (EBLN-2)
length: 272
go: ENSG00000255423;
sequence:


uniprotID: Q6P1R4
geneSymbol: DUS1L
length: 473
go: ENSG00000169718;
name:
tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like (EC 1.3.1.-) (tRNA-dihydrouridine synthase 1-like)

sequence:

opentargets:
flavin adenine dinucleotide binding [GO:0050660]; tRNA dihydrouridine synthase activity [GO:0017150]


uniprotID: Q15125
geneSymbol: EBP
reactome: R-HSA-6807047;R-HSA-6807062;
length: 230
go: ENSG00000147155;
drug: DB00675;
snps: rs104894795 rs587783599 rs878854359 rs797045153 rs104894800 rs28935174
name:
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC 5.3.3.5) (Cholestenol Delta-isomerase) (Delta(8)-Delta(7) sterol isomerase) (D8-D7 sterol isomerase) (Emopamil-binding protein)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; nuclear envelope [GO:0005635]; C-8 sterol isomerase activity [GO:0000247]; cholestenol delta-isomerase activity [GO:0047750]; drug transmembrane transporter activity [GO:0015238]; steroid delta-isomerase activity [GO:0004769]; transmembrane signaling receptor activity [GO:0004888]; cholesterol biosynthetic process [GO:0006695]; cholesterol biosynthetic process via desmosterol [GO:0033489]; cholesterol biosynthetic process via lathosterol [GO:0033490]; cholesterol metabolic process [GO:0008203]; hemopoiesis [GO:0030097]; skeletal system development [GO:0001501]; sterol biosynthetic process [GO:0016126]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10406945}; Multi-pass membrane protein {ECO:0000305}. Nucleus envelope {ECO:0000269|PubMed:10406945}. Cytoplasmic vesicle {ECO:0000269|PubMed:10406945}. Note=During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles. {ECO:0000269|PubMed:10406945}.


uniprotID: Q9NRW4
geneSymbol: DUSP22
pdb: 1WRM;4WOH;
length: 184
go: ENSG00000112679;
snps: rs7768224
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Dual specificity protein phosphatase 22 (EC 3.1.3.16) (EC 3.1.3.48) (JNK-stimulatory phosphatase-1) (JSP-1) (Low molecular weight dual specificity phosphatase 2) (LMW-DSP2) (Mitogen-activated protein kinase phosphatase x) (MAP kinase phosphatase x) (MKP-x)

sequence:
MGNGMNKILPGLYIGNFKDARDAEQLSKNKVTHILSVHDSARPMLEGVKYLCIPAADSPSQNLTRHFKESIKFIHECRLRGESCLVHCLAGVSRSVTLVIAYIMTVTDFGWEDALHTVRAGRSCANPNVGFQRQLQEFEKHEVHQYRQWLKEEYGESPLQDAEEAKNILAAPGILKFWAFLRRL

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; filamentous actin [GO:0031941]; leading edge of lamellipodium [GO:0061851]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; non-membrane spanning protein tyrosine phosphatase activity [GO:0004726]; protein tyrosine kinase binding [GO:1990782]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cellular response to epidermal growth factor stimulus [GO:0071364]; inactivation of MAPK activity [GO:0000188]; multicellular organism development [GO:0007275]; negative regulation of cell migration [GO:0030336]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of non-membrane spanning protein tyrosine kinase activity [GO:1903996]; negative regulation of T cell activation [GO:0050868]; negative regulation of T cell mediated immunity [GO:0002710]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peptidyl-tyrosine dephosphorylation [GO:0035335]; positive regulation of JNK cascade [GO:0046330]; protein dephosphorylation [GO:0006470]; regulation of cell proliferation [GO:0042127]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRW4-1; Sequence=Displayed; Name=2; IsoId=Q9NRW4-2; Sequence=VSP_019614; 


uniprotID: Q03001
geneSymbol: DST
reactome: R-HSA-2022090;R-HSA-446107;
pdb: 3GJO;
length: 7570
go: ENSG00000151914;
snps: rs35014998 rs16888053 rs4712138 rs4715631
name:
Dystonin (230 kDa bullous pemphigoid antigen) (230/240 kDa bullous pemphigoid antigen) (Bullous pemphigoid antigen 1) (BPA) (Bullous pemphigoid antigen) (Dystonia musculorum protein) (Hemidesmosomal plaque protein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; axon [GO:0030424]; axon cytoplasm [GO:1904115]; basal plasma membrane [GO:0009925]; basement membrane [GO:0005604]; cell cortex [GO:0005938]; cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; focal adhesion [GO:0005925]; H zone [GO:0031673]; hemidesmosome [GO:0030056]; integral component of membrane [GO:0016021]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; microtubule plus-end [GO:0035371]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; Z disc [GO:0030018]; actin binding [GO:0003779]; calcium ion binding [GO:0005509]; integrin binding [GO:0005178]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; structural molecule activity [GO:0005198]; cell adhesion [GO:0007155]; cell motility [GO:0048870]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton organization [GO:0007010]; hemidesmosome assembly [GO:0031581]; integrin-mediated signaling pathway [GO:0007229]; intermediate filament cytoskeleton organization [GO:0045104]; maintenance of cell polarity [GO:0030011]; microtubule cytoskeleton organization [GO:0000226]; response to wounding [GO:0009611]; retrograde axonal transport [GO:0008090]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=9;  Name=1; Synonyms=BPAG1-b; IsoId=Q03001-7; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data.; Name=2; Synonyms=BPAG1eA, Dystonin-1, eA; IsoId=Q03001-8; Sequence=VSP_041525, VSP_041535, VSP_041539, VSP_041540; Name=3; Synonyms=BPAG1e, eBPAG1; IsoId=Q03001-3; Sequence=VSP_041525, VSP_041533, VSP_041534; Name=4; Synonyms=BPAG1eA, eB; IsoId=Q03001-9; Sequence=VSP_041525, VSP_041536; Note=Incomplete sequence.; Name=5; IsoId=Q03001-10; Sequence=VSP_041524, VSP_041537, VSP_041538; Note=Incomplete sequence. 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.; Name=6; Synonyms=BPAG1n1, BPAG1n2, Dystonin-2; IsoId=Q03001-11; Sequence=VSP_041528, VSP_041529; Note=Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38). {ECO:0000244|PubMed:23186163, ECO:0000305}; Name=7; Synonyms=BPAG1n3; IsoId=Q03001-12; Sequence=VSP_041526, VSP_041530; Note=Incomplete sequence.; Name=8; IsoId=Q03001-13; Sequence=VSP_041527, VSP_041531, VSP_041532; Note=Probably myristoylated on Gly-2. Probably S-palmitoylated on Cys-5 and Cys-7. {ECO:0000244|PubMed:24275569, ECO:0000250}; Name=9; Synonyms=BPAG1-a {ECO:0000303|PubMed:14581450}, BAPG1n4 {ECO:0000303|PubMed:14581450}; IsoId=Q03001-14; Sequence=VSP_058835, VSP_058836; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11751855, ECO:0000269|PubMed:19932097}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:Q91ZU6}. Cell projection, axon {ECO:0000250|UniProtKB:Q91ZU6}. Note=Associates with intermediate filaments, actin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By similarity). Associated at the growing distal tip of microtubules. {ECO:0000250|UniProtKB:Q91ZU6}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone {ECO:0000250}. Note=Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes both cortical and cytoplasmic actin filaments. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Note=Localizes to actin and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 6: Nucleus {ECO:0000250|UniProtKB:Q91ZU6}. Nucleus envelope {ECO:0000269|PubMed:10428034}. Membrane {ECO:0000269|PubMed:10428034}; Single-pass membrane protein {ECO:0000269|PubMed:10428034}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q91ZU6}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q91ZU6}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10428034}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:Q91ZU6}. Note=Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in sensory neurons. {ECO:0000250|UniProtKB:Q91ZU6}.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10428034}. Cell projection, axon {ECO:0000269|PubMed:10428034}. Membrane {ECO:0000269|PubMed:10428034}. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.; SUBCELLULAR LOCATION: Isoform 8: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cell cortex {ECO:0000250}. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.


uniprotID: Q9P225
geneSymbol: DNAH2
length: 4427
go: ENSG00000183914;
snps: rs35664870 rs3744254 rs11868946 rs11656500 rs2309808 rs7213894
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
name:
Dynein heavy chain 2, axonemal (Axonemal beta dynein heavy chain 2) (Ciliary dynein heavy chain 2) (Dynein heavy chain domain-containing protein 3)

sequence:

opentargets:
axonemal dynein complex [GO:0005858]; dynein complex [GO:0030286]; microtubule [GO:0005874]; motile cilium [GO:0031514]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule motor activity [GO:0003777]; cilium-dependent cell motility [GO:0060285]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P225-1; Sequence=Displayed; Name=2; IsoId=Q9P225-2; Sequence=VSP_031916, VSP_031917, VSP_031918; Note=No experimental confirmation available.; Name=3; IsoId=Q9P225-3; Sequence=VSP_031913, VSP_031914, VSP_031915; 


uniprotID: Q86XF0
geneSymbol: DHFR2
reactome: R-HSA-196757;
length: 187
go: ENSG00000178700;
snps: rs17855824
name:
Dihydrofolate reductase 2, mitochondrial (Dihydrofolate reductase, mitochondrial) (EC 1.5.1.3) (Dihydrofolate reductase-like protein 1)

sequence:
MFLLLNCIVAVSQNMGIGKNGDLPRPPLRNEFRYFQRMTTTSSVEGKQNLVIMGRKTWFSIPEKNRPLKDRINLVLSRELKEPPQGAHFLARSLDDALKLTERPELANKVDMIWIVGGSSVYKEAMNHLGHLKLFVTRIMQDFESDTFFSEIDLEKYKLLPEYPGVLSDVQEGKHIKYKFEVCEKDD

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; dihydrofolate reductase activity [GO:0004146]; mRNA binding [GO:0003729]; NADP binding [GO:0050661]; dihydrofolate metabolic process [GO:0046452]; folic acid metabolic process [GO:0046655]; one-carbon metabolic process [GO:0006730]; tetrahydrofolate biosynthetic process [GO:0046654]; tetrahydrofolate metabolic process [GO:0046653]; thymidine biosynthetic process [GO:0046105]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21876184, ECO:0000269|PubMed:21876188}. Mitochondrion matrix {ECO:0000269|PubMed:21876188}. Mitochondrion inner membrane {ECO:0000269|PubMed:21876188}.


uniprotID: Q9BQI3
geneSymbol: EIF2AK1
length: 630
go: ENSG00000086232;
snps: rs34889754 rs34851195 rs55744865 rs55963745 rs55971369 rs55982710 rs34909691 rs2640
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Eukaryotic translation initiation factor 2-alpha kinase 1 (EC 2.7.11.1) (Heme-controlled repressor) (HCR) (Heme-regulated eukaryotic initiation factor eIF-2-alpha kinase) (Heme-regulated inhibitor) (Hemin-sensitive initiation factor 2-alpha kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; eukaryotic translation initiation factor 2alpha kinase activity [GO:0004694]; heme binding [GO:0020037]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; acute inflammatory response [GO:0002526]; iron ion homeostasis [GO:0055072]; macrophage differentiation [GO:0030225]; negative regulation of cell proliferation [GO:0008285]; negative regulation of hemoglobin biosynthetic process [GO:0046986]; negative regulation of translational initiation by iron [GO:0045993]; phagocytosis [GO:0006909]; protein autophosphorylation [GO:0046777]; protoporphyrinogen IX metabolic process [GO:0046501]; regulation of eIF2 alpha phosphorylation by heme [GO:0010999]; response to iron ion starvation [GO:1990641]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQI3-1; Sequence=Displayed; Name=2; IsoId=Q9BQI3-2; Sequence=VSP_007589; 


uniprotID: Q56P03
geneSymbol: EAPP
name: E2F-associated phosphoprotein (EAPP)
length: 285
go: ENSG00000129518;
snps: rs17352411
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]


uniprotID: Q14126
geneSymbol: DSG2
reactome: R-HSA-351906;R-HSA-6805567;R-HSA-6809371;
pdb: 2YQG;5ERD;5J5J;
name: Desmoglein-2 (Cadherin family member 5) (HDGC)
length: 1118
go: ENSG00000046604;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell junction [GO:0030054]; cell surface [GO:0009986]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intercalated disc [GO:0014704]; intracellular membrane-bounded organelle [GO:0043231]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication [GO:0086083]; bundle of His cell-Purkinje myocyte adhesion involved in cell communication [GO:0086073]; cell adhesion [GO:0007155]; cornification [GO:0070268]; desmosome organization [GO:0002934]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinization [GO:0031424]; maternal process involved in female pregnancy [GO:0060135]; Purkinje myocyte development [GO:0003165]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]; response to progesterone [GO:0032570]

snps:
rs121913008 rs121913006 rs121913013 rs2230232 rs191143292 rs2230234 rs191564916 rs121913009 rs2230235 rs79241126 rs2278792 rs121913010 rs16962093 rs34065672 rs142841727 


uniprotID: O43491
geneSymbol: EPB41L2
reactome: R-HSA-6794361;
name: Band 4.1-like protein 2 (Generally expressed protein 4.1) (4.1G)
length: 1005
go: ENSG00000079819;
snps: rs2297852
sequence:

opentargets:
cell cortex region [GO:0099738]; cell junction [GO:0030054]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spectrin [GO:0008091]; actin binding [GO:0003779]; PH domain binding [GO:0042731]; spectrin binding [GO:0030507]; structural molecule activity [GO:0005198]; actomyosin structure organization [GO:0031032]; cell cycle [GO:0007049]; cell division [GO:0051301]; cortical actin cytoskeleton organization [GO:0030866]; positive regulation of protein localization to cell cortex [GO:1904778]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43491-1; Sequence=Displayed; Name=2; IsoId=O43491-2; Sequence=VSP_042910; Note=No experimental confirmation available.; Name=3; IsoId=O43491-3; Sequence=VSP_045090; Note=No experimental confirmation available.; Name=4; IsoId=O43491-4; Sequence=VSP_047181, VSP_047182; Note=No experimental confirmation available. Gene prediction based on cDNA data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cell cortex {ECO:0000269|PubMed:23870127}. Cell membrane {ECO:0000269|PubMed:22361696}.


uniprotID: Q16254
geneSymbol: E2F4
pdb: 1CF7;5TUU;
name: Transcription factor E2F4 (E2F-4)
length: 413
go: ENSG00000205250;
snps: rs1801013
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-2173796;R-HSA-539107;R-HSA-6804114;R-HSA-69202;R-HSA-69231;R-HSA-69656;

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; promoter-specific chromatin binding [GO:1990841]; protein dimerization activity [GO:0046983]; protein domain specific binding [GO:0019904]; 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]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; animal organ morphogenesis [GO:0009887]; blood circulation [GO:0008015]; cell volume homeostasis [GO:0006884]; centriole assembly [GO:0098534]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; epithelial cell development [GO:0002064]; motile cilium assembly [GO:0044458]; multi-ciliated epithelial cell differentiation [GO:1903251]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]; regulation of cell proliferation [GO:0042127]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]


uniprotID: Q9UNE0
geneSymbol: EDAR
reactome: R-HSA-5669034;
length: 448
go: ENSG00000135960;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless homolog) (EDA-A1 receptor) (Ectodermal dysplasia receptor) (Ectodysplasin-A receptor)

sequence:

opentargets:
apical part of cell [GO:0045177]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; epidermis development [GO:0008544]; hair follicle development [GO:0001942]; odontogenesis of dentin-containing tooth [GO:0042475]; pigmentation [GO:0043473]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of JNK cascade [GO:0046330]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; salivary gland cavitation [GO:0060662]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

snps:
rs778903951 rs121908451 rs121908450 rs144473052 rs121908455 rs886039564 rs3827760 rs1267372612 rs121908454 rs747806672 rs121908453 rs528478080 rs773885029 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNE0-1; Sequence=Displayed; Name=2; IsoId=Q9UNE0-2; Sequence=VSP_054187; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q0VDD8
geneSymbol: DNAH14
length: 3507
go: ENSG00000185842;
snps: rs41267347 rs41267349 rs6667999
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
name:
Dynein heavy chain 14, axonemal (Axonemal beta dynein heavy chain 14) (Ciliary dynein heavy chain 14)

sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; dynein complex [GO:0030286]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q0VDD8-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q0VDD8-2; Sequence=VSP_031314, VSP_031315, VSP_031316, VSP_031317; Note=No experimental confirmation available.; Name=3; IsoId=Q0VDD8-3; Sequence=VSP_031314, VSP_031315, VSP_038241, VSP_038242; Note=No experimental confirmation available.; Name=4; IsoId=Q0VDD8-4; Sequence=VSP_031314, VSP_031315, VSP_031316, VSP_038243, VSP_038244, VSP_038245, VSP_038246, VSP_038247, VSP_038248, VSP_038249, VSP_038250, VSP_038251, VSP_038252, VSP_038253, VSP_038254, VSP_038255; 


uniprotID: Q96JB1
geneSymbol: DNAH8
name: Dynein heavy chain 8, axonemal (Axonemal beta dynein heavy chain 8) (Ciliary dynein heavy chain 8)
length: 4490
go: ENSG00000124721;
snps: rs6935293 rs1738254 rs3823430 rs1678674 rs874808 rs9357283 rs862432 rs1537232 rs10484847
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.
sequence:

opentargets:
axonemal dynein complex [GO:0005858]; dynein complex [GO:0030286]; microtubule [GO:0005874]; outer dynein arm [GO:0036157]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule motor activity [GO:0003777]; cilium-dependent cell motility [GO:0060285]; microtubule-based movement [GO:0007018]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96JB1-1; Sequence=Displayed; Name=2; IsoId=Q96JB1-2; Sequence=VSP_022614; Name=3; IsoId=Q96JB1-3; Sequence=Not described; Name=4; IsoId=Q96JB1-4; Sequence=Not described; 


uniprotID: O94769
geneSymbol: ECM2
name: Extracellular matrix protein 2 (Matrix glycoprotein SC1/ECM2)
length: 699
go: ENSG00000106823;
snps: rs10120210 rs35496743 rs34758505
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
extracellular matrix [GO:0031012]; interstitial matrix [GO:0005614]; collagen V binding [GO:0070052]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94769-1; Sequence=Displayed; Name=2; IsoId=O94769-2; Sequence=VSP_039114, VSP_039115; 


uniprotID: Q8N7U6
geneSymbol: EFHB
name: EF-hand domain-containing family member B
length: 833
go: ENSG00000163576;
opentargets: calcium ion binding [GO:0005509]
snps: rs17795400 rs13078867 rs2931403 rs2929366 rs9868950 rs11917204
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N7U6-1; Sequence=Displayed; Name=2; IsoId=Q8N7U6-2; Sequence=VSP_020864, VSP_020865; Note=No experimental confirmation available.; Name=3; IsoId=Q8N7U6-3; Sequence=VSP_020862, VSP_020863; Note=No experimental confirmation available.; 


uniprotID: O75923
geneSymbol: DYSF
reactome: R-HSA-445355;
pdb: 4CAH;4CAI;4IHB;4IQH;
name: Dysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1)
length: 2080
go: ENSG00000135636;
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; early endosome [GO:0005769]; endocytic vesicle [GO:0030139]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; late endosome [GO:0005770]; membrane microdomain [GO:0098857]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; alpha-tubulin binding [GO:0043014]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; microtubule binding [GO:0008017]; phospholipid binding [GO:0005543]; angiogenesis [GO:0001525]; cellular response to osmotic stress [GO:0071470]; cytokine secretion [GO:0050663]; fat cell differentiation [GO:0045444]; glycerol metabolic process [GO:0006071]; lipid storage [GO:0019915]; macrophage activation involved in immune response [GO:0002281]; monocyte activation involved in immune response [GO:0002280]; muscle contraction [GO:0006936]; muscle fiber development [GO:0048747]; negative regulation of gene expression [GO:0010629]; negative regulation of high voltage-gated calcium channel activity [GO:1901842]; negative regulation of phagocytosis [GO:0050765]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein polyubiquitination [GO:1902915]; plasma membrane repair [GO:0001778]; positive regulation of cell adhesion [GO:0045785]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of neutrophil chemotaxis [GO:0090023]; regulation of calcium ion import [GO:0090279]; skeletal muscle tissue regeneration [GO:0043403]; T-tubule organization [GO:0033292]; vesicle fusion [GO:0006906]

snps:
rs121908957 rs772008300 rs200970855 rs34999029 rs13407355 rs141497053 rs149827237 rs121908963 rs121908963 rs766891289 rs150724610 rs886042389 rs886042093 rs121908962 rs377735262 rs201049092 rs886043900 rs121908960 rs121908956 rs748636047 rs34671418 rs727503910 rs202218890 rs28937581 rs34211915 rs150877497 rs144598063 rs121908958 rs34660230 rs59915619 rs148858485 rs2303603 rs121908954 rs145401010 rs61742872 rs758993965 rs757917335 rs139529811 rs776472879 rs757820496 rs76086153 rs185596534 rs753279446 rs779987458 rs863225021 rs121908961 rs746243052 rs398123794 rs199601326 rs1057521141 rs115407852 rs121908955 rs149732545 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=15;  Comment=Approximately 23% of the transcripts in skeletal muscle incorporate exon 1a from an alternative promoter and missing the calcium-binding sites of domain C2 1.; Name=1; IsoId=O75923-1; Sequence=Displayed; Name=2; IsoId=O75923-2; Sequence=VSP_035925; Name=3; IsoId=O75923-3; Sequence=VSP_035926; Name=4; IsoId=O75923-4; Sequence=VSP_035927; Name=5; IsoId=O75923-5; Sequence=VSP_035925, VSP_035926; Name=6; IsoId=O75923-6; Sequence=VSP_035926, VSP_035927; Name=7; IsoId=O75923-7; Sequence=VSP_035925, VSP_035926, VSP_035927; Name=8; IsoId=O75923-8; Sequence=VSP_035924, VSP_035925; Name=9; IsoId=O75923-9; Sequence=VSP_035924, VSP_035926; Name=10; IsoId=O75923-10; Sequence=VSP_035924, VSP_035927; Name=11; IsoId=O75923-11; Sequence=VSP_035924, VSP_035925, VSP_035926; Name=12; IsoId=O75923-12; Sequence=VSP_035924, VSP_035926, VSP_035927; Name=13; IsoId=O75923-13; Sequence=VSP_035924, VSP_035925, VSP_035926, VSP_035927; Name=14; Synonyms=Dysferlin_v1, DYSF_v1; IsoId=O75923-14; Sequence=VSP_035924; Note=Produced by alternative promoter usage.; Name=15; IsoId=O75923-15; Sequence=VSP_035926, VSP_035928, VSP_035929; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). {ECO:0000250}.


uniprotID: Q9UQ16
geneSymbol: DNM3
reactome: R-HSA-166016;R-HSA-177504;R-HSA-2132295;R-HSA-437239;R-HSA-8856828;
pdb: 3L43;5A3F;
name: Dynamin-3 (EC 3.6.5.5) (Dynamin, testicular) (T-dynamin)
length: 869
go: ENSG00000197959;
sequence:

opentargets:
apical tubulobulbar complex [GO:0061828]; axon [GO:0030424]; basal tubulobulbar complex [GO:0061829]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; dendritic spine [GO:0043197]; dendritic spine head [GO:0044327]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; microtubule [GO:0005874]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic endocytic zone membrane [GO:0098844]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; synapse [GO:0045202]; synaptic cleft [GO:0043083]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; nitric-oxide synthase binding [GO:0050998]; structural constituent of postsynapse [GO:0099186]; type 1 metabotropic glutamate receptor binding [GO:0031798]; type 5 metabotropic glutamate receptor binding [GO:0031802]; endocytosis [GO:0006897]; filopodium assembly [GO:0046847]; negative regulation of dendritic spine morphogenesis [GO:0061002]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of synaptic vesicle recycling [GO:1903423]; postsynaptic neurotransmitter receptor internalization [GO:0098884]; receptor internalization [GO:0031623]; regulation of synapse structure or activity [GO:0050803]; synapse assembly [GO:0007416]; synaptic vesicle budding from presynaptic endocytic zone membrane [GO:0016185]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9UQ16-1; Sequence=Displayed; Name=2; IsoId=Q9UQ16-2; Sequence=VSP_034053; Name=3; IsoId=Q9UQ16-3; Sequence=VSP_034053, VSP_034054; Name=4; IsoId=Q9UQ16-4; Sequence=VSP_034054; Name=5; IsoId=Q9UQ16-5; Sequence=VSP_034053, VSP_054546, VSP_054547; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cytoplasm, cytoskeleton {ECO:0000305}. Note=Microtubule-associated. {ECO:0000305}.


uniprotID: P00374
geneSymbol: DHFR
reactome: R-HSA-1474151;R-HSA-196757;R-HSA-539107;
name: Dihydrofolate reductase (EC 1.5.1.3)
length: 187
go: ENSG00000228716;
snps: rs387906619 rs121913223
pdb:
1BOZ;1DHF;1DLR;1DLS;1DRF;1HFP;1HFQ;1HFR;1KMS;1KMV;1MVS;1MVT;1OHJ;1OHK;1PD8;1PD9;1PDB;1S3U;1S3V;1S3W;1U71;1U72;1YHO;2C2S;2C2T;2DHF;2W3A;2W3B;2W3M;3EIG;3F8Y;3F8Z;3F91;3FS6;3GHC;3GHV;3GHW;3GI2;3GYF;3L3R;3N0H;3NTZ;3NU0;3NXO;3NXR;3NXT;3NXV;3NXX;3NXY;3NZD;3OAF;3S3V;3S7A;4DDR;4G95;4KAK;4KBN;4KD7;4KEB;4KFJ;4M6J;4M6K;4M6L;4QHV;4QJC;5HPB;5HQY;5HQZ;5HSR;5HSU;5HT4;5HT5;5HUI;5HVB;5HVE;6DAV;6DE4;

sequence:
MVGSLNCIVAVSQNMGIGKNGDLPWPPLRNEFRYFQRMTTTSSVEGKQNLVIMGKKTWFSIPEKNRPLKGRINLVLSRELKEPPQGAHFLSRSLDDALKLTEQPELANKVDMVWIVGGSSVYKEAMNHPGHLKLFVTRIMQDFESDTFFPEIDLEKYKLLPEYPGVLSDVQEEKGIKYKFEVYEKND

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; dihydrofolate reductase activity [GO:0004146]; drug binding [GO:0008144]; folate reductase activity [GO:0033560]; folic acid binding [GO:0005542]; methotrexate binding [GO:0051870]; mRNA binding [GO:0003729]; NADP binding [GO:0050661]; NADPH binding [GO:0070402]; sequence-specific mRNA binding [GO:1990825]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; axon regeneration [GO:0031103]; dihydrofolate metabolic process [GO:0046452]; folic acid metabolic process [GO:0046655]; negative regulation of translation [GO:0017148]; one-carbon metabolic process [GO:0006730]; oxidation-reduction process [GO:0055114]; positive regulation of nitric-oxide synthase activity [GO:0051000]; regulation of removal of superoxide radicals [GO:2000121]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; response to methotrexate [GO:0031427]; tetrahydrobiopterin biosynthetic process [GO:0006729]; tetrahydrofolate biosynthetic process [GO:0046654]; tetrahydrofolate metabolic process [GO:0046653]

drug:
DB03461;DB08878;DB03886;DB00798;DB00563;DB00157;DB00642;DB06813;DB01131;DB00205;DB03351;DB03060;DB00440;DB01157;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00374-1; Sequence=Displayed; Name=2; IsoId=P00374-2; Sequence=VSP_056352; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P00375}. Cytoplasm {ECO:0000250|UniProtKB:P00375}.


uniprotID: Q5VZP5
geneSymbol: DUSP27
name: Inactive dual specificity phosphatase 27
length: 1158
go: ENSG00000198842;
opentargets: sarcomere [GO:0030017]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]
snps: rs267745 rs6668826 rs3795605 rs267746 rs2281959
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:F1QWM2}.
sequence:


uniprotID: A8K855
geneSymbol: EFCAB7
reactome: R-HSA-5635838;
name: EF-hand calcium-binding domain-containing protein 7
length: 629
go: ENSG00000203965;
snps: rs17125106 rs9436246 rs6693255 rs6657480 rs2273367
sequence:

opentargets:
ciliary membrane [GO:0060170]; cilium [GO:0005929]; extrinsic component of membrane [GO:0019898]; plasma membrane protein complex [GO:0098797]; calcium ion binding [GO:0005509]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein localization to ciliary membrane [GO:1903569]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8K855-1; Sequence=Displayed; Name=2; IsoId=A8K855-2; Sequence=VSP_030930; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q8VDY4}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8VDY4}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8VDY4}. 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:Q8VDY4}.


uniprotID: A8MZ26
geneSymbol: EFCAB9
name: EF-hand calcium-binding domain-containing protein 9
length: 197
opentargets: calcium ion binding [GO:0005509]
sequence:
MRLKQGSFLWYLYLDKIYCLLSVRNVKALAEYFHILDVHGKNTLNDVLFYHFLHHVTDLKKAQINIVFDMLDWNAVGEIDFEKFYMLVCMLLAHQNHLEGQFMYRHSRPVFDLLDLKGDLRIGAKNFEMYRFLFNIQKQELKDLFRDFDITGDNRLNYQEFKLYTIIYTDKLQKRQKTEEKEKGERKRSLYSKCHIK


uniprotID: P19525
geneSymbol: EIF2AK2
reactome: R-HSA-1169408;R-HSA-169131;
pdb: 1QU6;2A19;2A1A;3UIU;
length: 551
go: ENSG00000055332;
snps: rs56219559 rs34821155
name:
Interferon-induced, double-stranded RNA-activated protein kinase (EC 2.7.11.1) (Eukaryotic translation initiation factor 2-alpha kinase 2) (eIF-2A protein kinase 2) (Interferon-inducible RNA-dependent protein kinase) (P1/eIF-2A protein kinase) (Protein kinase RNA-activated) (PKR) (Protein kinase R) (Tyrosine-protein kinase EIF2AK2) (EC 2.7.10.2) (p68 kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic ribosome [GO:0022626]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ribosome [GO:0005840]; ATP binding [GO:0005524]; double-stranded RNA binding [GO:0003725]; eukaryotic translation initiation factor 2alpha kinase activity [GO:0004694]; identical protein binding [GO:0042802]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein kinase activity [GO:0004672]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; activation of MAPKK activity [GO:0000186]; cellular response to amino acid starvation [GO:0034198]; defense response to virus [GO:0051607]; endoplasmic reticulum unfolded protein response [GO:0030968]; evasion or tolerance by virus of host immune response [GO:0030683]; innate immune response [GO:0045087]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of osteoblast proliferation [GO:0033689]; negative regulation of translation [GO:0017148]; negative regulation of viral genome replication [GO:0045071]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytokine production [GO:0001819]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of stress-activated MAPK cascade [GO:0032874]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of hematopoietic progenitor cell differentiation [GO:1901532]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of hematopoietic stem cell proliferation [GO:1902033]; regulation of NLRP3 inflammasome complex assembly [GO:1900225]; response to interferon-alpha [GO:0035455]; response to toxic substance [GO:0009636]; response to virus [GO:0009615]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19525-1; Sequence=Displayed; Name=2; IsoId=P19525-2; Sequence=VSP_046177; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, perinuclear region. Note=Nuclear localization is elevated in acute leukemia, myelodysplastic syndrome (MDS), melanoma, breast, colon, prostate and lung cancer patient samples or cell lines as well as neurocytes from advanced Creutzfeldt-Jakob disease patients.


uniprotID: P32926
geneSymbol: DSG3
reactome: R-HSA-351906;R-HSA-6805567;R-HSA-6809371;
pdb: 5EQX;
name: Desmoglein-3 (130 kDa pemphigus vulgaris antigen) (PVA) (Cadherin family member 6)
length: 999
go: ENSG00000134757;
snps: rs16961975 rs1380866
sequence:

opentargets:
cornified envelope [GO:0001533]; cytosol [GO:0005829]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cornification [GO:0070268]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinization [GO:0031424]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, desmosome {ECO:0000250}.


uniprotID: O95672
geneSymbol: ECEL1
name: Endothelin-converting enzyme-like 1 (EC 3.4.24.-) (Xce protein)
length: 775
go: ENSG00000171551;
snps: rs2741281 rs1529874 rs532757890 rs587776919 rs587777129
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; neuropeptide signaling pathway [GO:0007218]; respiratory system process [GO:0003016]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95672-1; Sequence=Displayed; Name=2; IsoId=O95672-2; Sequence=VSP_017544; Note=No experimental confirmation available.; 


uniprotID: Q13627
geneSymbol: DYRK1A
reactome: R-HSA-1538133;
length: 763
go: ENSG00000157540;
drug: DB07608;
snps: rs55720916
pdb:
2VX3;2WO6;3ANQ;3ANR;4AZE;4MQ1;4MQ2;4NCT;4YLJ;4YLK;4YLL;4YU2;5A3X;5A4E;5A4L;5A4Q;5A4T;5A54;5AIK;6EIF;6EIJ;6EIL;6EIP;6EIQ;6EIR;6EIS;6EIV;6EJ4;

name:
Dual specificity tyrosine-phosphorylation-regulated kinase 1A (EC 2.7.12.1) (Dual specificity YAK1-related kinase) (HP86) (Protein kinase minibrain homolog) (MNBH) (hMNB)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendrite [GO:0030425]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; actin binding [GO:0003779]; ATP binding [GO:0005524]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein kinase activity [GO:0004672]; protein self-association [GO:0043621]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; tau protein binding [GO:0048156]; tubulin binding [GO:0015631]; amyloid-beta formation [GO:0034205]; circadian rhythm [GO:0007623]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of microtubule polymerization [GO:0031115]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; nervous system development [GO:0007399]; peptidyl-serine autophosphorylation [GO:0036289]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of protein deacetylation [GO:0090312]; positive regulation of RNA splicing [GO:0033120]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=Long; IsoId=Q13627-1; Sequence=Displayed; Name=1; IsoId=Q13627-2; Sequence=VSP_004917; Name=2; IsoId=Q13627-3; Sequence=VSP_004918, VSP_004919; Name=3; IsoId=Q13627-4; Sequence=VSP_004920, VSP_004921; Name=4; IsoId=Q13627-5; Sequence=VSP_004922, VSP_004923; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:23415227}. Nucleus speckle {ECO:0000250|UniProtKB:Q61214}.


uniprotID: P55084
geneSymbol: HADHB
reactome: R-HSA-1482798;R-HSA-77285;R-HSA-77288;R-HSA-77305;R-HSA-77310;R-HSA-77346;R-HSA-77348;R-HSA-77350;
pdb: 5ZQZ;5ZRV;6DV2;
length: 474
go: ENSG00000138029;
name:
Trifunctional enzyme subunit beta, mitochondrial (TP-beta) [Includes: 3-ketoacyl-CoA thiolase (EC 2.3.1.16) (Acetyl-CoA acyltransferase) (Beta-ketothiolase)]

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; mitochondrial envelope [GO:0005740]; mitochondrial inner membrane [GO:0005743]; mitochondrial nucleoid [GO:0042645]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; acetyl-CoA C-acetyltransferase activity [GO:0003985]; acetyl-CoA C-acyltransferase activity [GO:0003988]; enoyl-CoA hydratase activity [GO:0004300]; long-chain-3-hydroxyacyl-CoA dehydrogenase activity [GO:0016509]; RNA binding [GO:0003723]; ergosterol biosynthetic process [GO:0006696]; fatty acid beta-oxidation [GO:0006635]

snps:
rs780351691 rs121913132 rs773127211 rs371159065 rs17851200 rs121913133 rs121913131 rs57969630 rs751772298 rs891954464 rs121913134 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55084-1; Sequence=Displayed; Name=2; IsoId=P55084-2; Sequence=VSP_054426; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21527675}. Mitochondrion inner membrane {ECO:0000269|PubMed:21527675}. Mitochondrion outer membrane {ECO:0000269|PubMed:21527675}. Endoplasmic reticulum {ECO:0000269|PubMed:21527675}.


uniprotID: O43854
geneSymbol: EDIL3
pdb: 4D90;
length: 480
go: ENSG00000164176;
location: SUBCELLULAR LOCATION: Secreted.
name:
EGF-like repeat and discoidin I-like domain-containing protein 3 (Developmentally-regulated endothelial cell locus 1 protein) (Integrin-binding protein DEL1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; multicellular organism development [GO:0007275]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=O43854-1; Sequence=Displayed; Name=2; Synonyms=Short, Z20; IsoId=O43854-2; Sequence=VSP_050006, VSP_050007; 


uniprotID: P57055
geneSymbol: RIPPLY3
name: Protein ripply3 (Down syndrome critical region protein 6)
length: 190
go: ENSG00000183145;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:
MEPEAAAGARKARGRGCHCPGDAPWRPPPPRGPESPAPWRPWIQTPGDAELTRTGRPLEPRADQHTFGSKGAFGFQHPVRVYLPMSKRQEYLRSSGEQVLASFPVQATIDFYDDESTESASEAEEPEEGPPPLHLLPQEVGGRQENGPGGKGRDQGINQGQRSSGGGDHWGEGPLPQGVSSRGGKCSSSK

opentargets:
nucleus [GO:0005634]; heart development [GO:0007507]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; pharyngeal system development [GO:0060037]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=P57055-1; Sequence=Displayed; Name=2; Synonyms=B, C, D; IsoId=P57055-2; Sequence=VSP_004205; 


uniprotID: Q99848
geneSymbol: EBNA1BP2
reactome: R-HSA-6791226;
name: Probable rRNA-processing protein EBP2 (EBNA1-binding protein 2) (Nucleolar protein p40)
length: 306
go: ENSG00000117395;
snps: rs7163
sequence:

opentargets:
nuclear periphery [GO:0034399]; nucleolus [GO:0005730]; nucleus [GO:0005634]; preribosome, large subunit precursor [GO:0030687]; RNA binding [GO:0003723]; ribosomal large subunit biogenesis [GO:0042273]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:19170763, ECO:0000269|PubMed:2879624}. Note=Associated with the nucleolus in an RNA-dependent manner.


uniprotID: Q9HAE3
geneSymbol: EFCAB1
name: EF-hand calcium-binding domain-containing protein 1
length: 211
go: ENSG00000034239;
opentargets: calcium ion binding [GO:0005509]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAE3-1; Sequence=Displayed; Name=2; IsoId=Q9HAE3-2; Sequence=VSP_041330, VSP_041331; 


uniprotID: Q05193
geneSymbol: DNM1
pdb: 1DYN;2DYN;2X2E;2X2F;3SNH;3ZYC;3ZYS;4UUD;4UUK;5D3Q;6DLU;6DLV;
name: Dynamin-1 (EC 3.6.5.5)
length: 864
go: ENSG00000106976;
snps: rs587777860 rs587777861 rs760270633 rs587777862 rs1042007
reactome:
R-HSA-166016;R-HSA-177504;R-HSA-190873;R-HSA-196025;R-HSA-2132295;R-HSA-3928665;R-HSA-437239;R-HSA-8856828;

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; dendritic spine [GO:0043197]; dendritic spine head [GO:0044327]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; membrane coat [GO:0030117]; microtubule [GO:0005874]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; photoreceptor inner segment [GO:0001917]; photoreceptor ribbon synapse [GO:0098684]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic endocytic zone membrane [GO:0098844]; postsynaptic membrane [GO:0045211]; presynaptic endocytic zone membrane [GO:0098835]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; varicosity [GO:0043196]; D2 dopamine receptor binding [GO:0031749]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; nitric-oxide synthase binding [GO:0050998]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; SH3 domain binding [GO:0017124]; clathrin-dependent endocytosis [GO:0072583]; endocytosis [GO:0006897]; endosome organization [GO:0007032]; ephrin receptor signaling pathway [GO:0048013]; G protein-coupled receptor internalization [GO:0002031]; modulation of chemical synaptic transmission [GO:0050804]; positive regulation of synaptic vesicle endocytosis [GO:1900244]; postsynaptic neurotransmitter receptor internalization [GO:0098884]; receptor internalization [GO:0031623]; receptor-mediated endocytosis [GO:0006898]; regulation of synapse structure or activity [GO:0050803]; response to amyloid-beta [GO:1904645]; synaptic vesicle budding from presynaptic endocytic zone membrane [GO:0016185]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q05193-1; Sequence=Displayed; Name=2; IsoId=Q05193-2; Sequence=VSP_031518; Name=3; IsoId=Q05193-3; Sequence=VSP_031519; Name=4; IsoId=Q05193-5; Sequence=VSP_031518, VSP_031519; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15703209}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15703209}. Note=Microtubule-associated.


uniprotID: O43781
geneSymbol: DYRK3
pdb: 5Y86;
length: 588
go: ENSG00000143479;
name:
Dual specificity tyrosine-phosphorylation-regulated kinase 3 (EC 2.7.12.1) (Regulatory erythroid kinase) (REDK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentriolar material [GO:0000242]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; cell cycle [GO:0007049]; cell division [GO:0051301]; erythrocyte differentiation [GO:0030218]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; nuclear speck organization [GO:0035063]; organelle disassembly [GO:1903008]; positive regulation of cell cycle G2/M phase transition [GO:1902751]; protein phosphorylation [GO:0006468]; regulation of cellular response to stress [GO:0080135]; regulation of TORC1 signaling [GO:1903432]; stress granule disassembly [GO:0035617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long {ECO:0000303|PubMed:10779429}; IsoId=O43781-1; Sequence=Displayed; Name=2; Synonyms=Short {ECO:0000303|PubMed:10779429}; IsoId=O43781-2; Sequence=VSP_026178, VSP_026179; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10779429, ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:29973724}. Cytoplasm {ECO:0000269|PubMed:29973724}. Nucleus speckle {ECO:0000269|PubMed:29973724}. Cytoplasmic granule {ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:23415227, ECO:0000269|PubMed:29973724}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:29973724}. Note=Associates with membraneless organelles in the cytoplasm and nucleus (PubMed:29973724). Shuttles between cytoplasm and stress granules (PubMed:20167603). Localized predominantly on distinct speckles distributed throughout the cytoplasm of the cell (PubMed:20167603). At low concentration, showns a homogeneous distribution throughout the cytoplasm and does not condense in speckles. During oxidative and osmotic stress, localizes to stress granules (PubMed:20167603). {ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:29973724}.


uniprotID: P43004
geneSymbol: SLC1A2
reactome: R-HSA-210455;R-HSA-210500;R-HSA-425393;
length: 574
go: ENSG00000110436;
drug: DB00142;
snps: rs886037942 rs886037943
name:
Excitatory amino acid transporter 2 (Glutamate/aspartate transporter II) (Sodium-dependent glutamate/aspartate transporter 2) (Solute carrier family 1 member 2)

sequence:

opentargets:
axolemma [GO:0030673]; cell surface [GO:0009986]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; glutamate:sodium symporter activity [GO:0015501]; high-affinity glutamate transmembrane transporter activity [GO:0005314]; L-glutamate transmembrane transporter activity [GO:0005313]; metal ion binding [GO:0046872]; adult behavior [GO:0030534]; cellular response to extracellular stimulus [GO:0031668]; chemical synaptic transmission [GO:0007268]; D-aspartate import across plasma membrane [GO:0070779]; glutamate secretion [GO:0014047]; ion transport [GO:0006811]; L-glutamate import across plasma membrane [GO:0098712]; L-glutamate transmembrane transport [GO:0015813]; multicellular organism aging [GO:0010259]; multicellular organism growth [GO:0035264]; neurotransmitter reuptake [GO:0098810]; positive regulation of glucose import [GO:0046326]; protein homotrimerization [GO:0070207]; response to amino acid [GO:0043200]; response to wounding [GO:0009611]; telencephalon development [GO:0021537]; visual behavior [GO:0007632]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P43004-1; Sequence=Displayed; Name=2; IsoId=P43004-2; Sequence=VSP_037152; Name=3; Synonyms=EEAT2b; IsoId=P43004-3; Sequence=VSP_054934; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14506254, ECO:0000269|PubMed:15265858, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:7521911}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q14204
geneSymbol: DYNC1H1
pdb: 2BOR;2BOT;5NUG;5OWO;6F1T;6F1U;6F1V;6F1Y;6F38;6F3A;
length: 4646
go: ENSG00000197102;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5663220;R-HSA-6798695;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;R-HSA-8854518;

name:
Cytoplasmic dynein 1 heavy chain 1 (Cytoplasmic dynein heavy chain 1) (Dynein heavy chain, cytosolic)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; centrosome [GO:0005813]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; dynein complex [GO:0030286]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; filopodium [GO:0030175]; membrane [GO:0016020]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; RNA binding [GO:0003723]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; cytoplasmic microtubule organization [GO:0031122]; cytoplasmic mRNA processing body assembly [GO:0033962]; ER to Golgi vesicle-mediated transport [GO:0006888]; establishment of spindle localization [GO:0051293]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule-based movement [GO:0007018]; minus-end-directed vesicle transport along microtubule [GO:0072382]; mitotic spindle organization [GO:0007052]; neutrophil degranulation [GO:0043312]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of intracellular transport [GO:0032388]; positive regulation of spindle assembly [GO:1905832]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of metaphase plate congression [GO:0090235]; regulation of mitotic spindle organization [GO:0060236]; stress granule assembly [GO:0034063]

snps:
rs713993043 rs387906738 rs387906741 rs587780564 rs387906742 rs1057518083 rs387906743 rs369914512 rs387906740 rs797044901 rs879253881 rs1064796963 rs397509410 rs397509412 rs397509411 rs387906739 rs17512818 rs10129889 rs749486351 rs376492799 


uniprotID: Q5VTE0
geneSymbol: EEF1A1P5
reactome: R-HSA-156842;
length: 462
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Putative elongation factor 1-alpha-like 3 (EF-1-alpha-like 3) (Eukaryotic elongation factor 1 A-like 3) (eEF1A-like 3) (Eukaryotic translation elongation factor 1 alpha-1 pseudogene 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; translation elongation factor activity [GO:0003746]; translation [GO:0006412]; translational elongation [GO:0006414]


uniprotID: Q9BZQ6
geneSymbol: EDEM3
reactome: R-HSA-901032;
length: 932
go: ENSG00000116406;
snps: rs9425343
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
name:
ER degradation-enhancing alpha-mannosidase-like protein 3 (EC 3.2.1.113) (Alpha-1,2-mannosidase EDEM3)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum quality control compartment [GO:0044322]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; mannosyl-oligosaccharide 1,2-alpha-mannosidase activity [GO:0004571]; mannose trimming involved in glycoprotein ERAD pathway [GO:1904382]; protein glycosylation [GO:0006486]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZQ6-1; Sequence=Displayed; Name=2; IsoId=Q9BZQ6-2; Sequence=VSP_056375, VSP_056376; Note=No experimental confirmation available.; 


uniprotID: Q5VYK3
geneSymbol: ECPAS
length: 1845
snps: rs16916091
name:
Proteasome adapter and scaffold protein ECM29 (Ecm29 proteasome adapter and scaffold) (Proteasome-associated protein ECM29 homolog)

sequence:

opentargets:
centrosome [GO:0005813]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; endocytic vesicle [GO:0030139]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; late endosome [GO:0005770]; membrane [GO:0016020]; multivesicular body [GO:0005771]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome binding [GO:0070628]; protein-containing complex scaffold activity [GO:0032947]; proteasome assembly [GO:0043248]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:15496406}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:15496406}. Endosome {ECO:0000269|PubMed:15496406}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15496406}. Nucleus {ECO:0000269|PubMed:15496406}. Endosome, multivesicular body {ECO:0000269|PubMed:20682791}. Cytoplasmic vesicle {ECO:0000269|PubMed:20682791}.


uniprotID: Q008S8
geneSymbol: ECT2L
length: 904
go: ENSG00000203734;
snps: rs12198781 rs1529151 rs11968285
name:
Epithelial cell-transforming sequence 2 oncogene-like (Lung-specific F-box and DH domain-containing protein) (Putative guanine nucleotide exchange factor LFDH)

sequence:


uniprotID: Q9NRD8
geneSymbol: DUOX2
reactome: R-HSA-209968;
length: 1548
go: ENSG00000140279;
snps: rs2001616 rs119472029 rs57659670 rs269868 rs374410986 rs374410986 rs368512412
name:
Dual oxidase 2 (EC 1.11.1.-) (EC 1.6.3.1) (Large NOX 2) (Long NOX 2) (NADH/NADPH thyroid oxidase p138-tox) (NADPH oxidase/peroxidase DUOX2) (NADPH thyroid oxidase 2) (Thyroid oxidase 2) (p138 thyroid oxidase)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell junction [GO:0030054]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; heme binding [GO:0020037]; NAD(P)H oxidase activity [GO:0016174]; peroxidase activity [GO:0004601]; adenohypophysis morphogenesis [GO:0048855]; bone mineralization [GO:0030282]; cuticle development [GO:0042335]; cytokine-mediated signaling pathway [GO:0019221]; fertilization [GO:0009566]; hormone biosynthetic process [GO:0042446]; hydrogen peroxide biosynthetic process [GO:0050665]; hydrogen peroxide catabolic process [GO:0042744]; inner ear development [GO:0048839]; multicellular organism growth [GO:0035264]; oxidation-reduction process [GO:0055114]; response to cAMP [GO:0051591]; response to oxidative stress [GO:0006979]; response to virus [GO:0009615]; thyroid gland development [GO:0030878]; thyroid hormone generation [GO:0006590]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:15591162, ECO:0000269|PubMed:26301257}; Multi-pass membrane protein {ECO:0000269|PubMed:15591162}. Cell junction {ECO:0000269|PubMed:26301257}. Note=Localizes to the apical membrane of epithelial cells. Localizes on internal membrane structures under resting conditions, translocates to the plasma membrane and cell-cell junctions upon challenge with enteric pathogens, such as Escherichia coli. {ECO:0000269|PubMed:26301257}.


uniprotID: Q6ZN92
length: 141
name:
Putative inactive deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323 (dUTPase-like protein)

sequence:
MPVIPALGEAKGEVLPPGDTTTIIPLNWMLKSPPGHFGLLLLLSQQAKNGVMVLAGVTDPEYQDEISLLLHNEGHLKEVKMEGARLGLPGRAESLEHQVQSHLNMIAQSQRTFQKKDAGKAIILSKLTQEQKTKHCMFSLH

opentargets:
dUTP diphosphatase activity [GO:0004170]; magnesium ion binding [GO:0000287]; dUMP biosynthetic process [GO:0006226]; dUTP catabolic process [GO:0046081]


uniprotID: Q8TD57
geneSymbol: DNAH3
length: 4116
go: ENSG00000158486;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
name:
Dynein heavy chain 3, axonemal (Axonemal beta dynein heavy chain 3) (HsADHC3) (Ciliary dynein heavy chain 3) (Dnahc3-b)

sequence:

opentargets:
axonemal dynein complex [GO:0005858]; dynein complex [GO:0030286]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule motor activity [GO:0003777]; cilium movement [GO:0003341]; cilium-dependent cell motility [GO:0060285]; microtubule-based movement [GO:0007018]

snps:
rs16970910 rs330150 rs16970832 rs13332291 rs34179606 rs12929546 rs33928718 rs3743695 rs34771199 rs12924551 rs2301620 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TD57-1; Sequence=Displayed; Name=2; IsoId=Q8TD57-2; Sequence=VSP_031919, VSP_031920, VSP_031921, VSP_031922, VSP_031923; Note=No experimental confirmation available.; Name=3; IsoId=Q8TD57-3; Sequence=VSP_031924, VSP_031925; Note=No experimental confirmation available.; 


uniprotID: Q16610
geneSymbol: ECM1
reactome: R-HSA-114608;
name: Extracellular matrix protein 1 (Secretory component p85)
length: 540
go: ENSG00000143369;
snps: rs3737240 rs121909116 rs13294 rs1050901 rs1050904
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; platelet dense granule lumen [GO:0031089]; enzyme binding [GO:0019899]; extracellular matrix structural constituent [GO:0005201]; interleukin-2 receptor binding [GO:0005134]; laminin binding [GO:0043236]; protease binding [GO:0002020]; protein C-terminus binding [GO:0008022]; angiogenesis [GO:0001525]; biomineral tissue development [GO:0031214]; chondrocyte development [GO:0002063]; endochondral bone growth [GO:0003416]; inflammatory response [GO:0006954]; negative regulation of bone mineralization [GO:0030502]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; negative regulation of peptidase activity [GO:0010466]; ossification [GO:0001503]; platelet degranulation [GO:0002576]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of T cell migration [GO:2000404]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of type 2 immune response [GO:0002828]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=1a; IsoId=Q16610-1; Sequence=Displayed; Name=2; Synonyms=1b; IsoId=Q16610-2; Sequence=VSP_036414; Name=3; IsoId=Q16610-3; Sequence=VSP_036411, VSP_036412, VSP_036415, VSP_036416; Name=4; IsoId=Q16610-4; Sequence=VSP_036413; Note=May be due to intron retention.; 


uniprotID: O00716
geneSymbol: E2F3
reactome: R-HSA-1912408;R-HSA-2559580;R-HSA-2559585;R-HSA-68689;R-HSA-68911;R-HSA-69231;
name: Transcription factor E2F3 (E2F-3)
length: 465
go: ENSG00000112242;
snps: rs4134973 rs4134982
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; RNA polymerase II transcription factor complex [GO:0090575]; 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 dimerization activity [GO:0046983]; 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]; proximal promoter sequence-specific DNA binding [GO:0000987]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; cell cycle [GO:0007049]; negative regulation of fat cell proliferation [GO:0070345]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular associated smooth muscle cell apoptotic process [GO:1905461]; regulation of cell cycle [GO:0051726]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00716-1; Sequence=Displayed; Name=2; IsoId=O00716-2; Sequence=VSP_045066, VSP_045067, VSP_045068; Note=No experimental confirmation available.; 


uniprotID: Q9Y6W6
geneSymbol: DUSP10
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 1ZZW;2OUC;2OUD;3TG1;
length: 482
go: ENSG00000143507;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Dual specificity protein phosphatase 10 (EC 3.1.3.16) (EC 3.1.3.48) (Mitogen-activated protein kinase phosphatase 5) (MAP kinase phosphatase 5) (MKP-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; JUN kinase binding [GO:0008432]; MAP kinase phosphatase activity [GO:0033549]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; mitogen-activated protein kinase p38 binding [GO:0048273]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; protein tyrosine/threonine phosphatase activity [GO:0008330]; dephosphorylation [GO:0016311]; inactivation of MAPK activity [GO:0000188]; negative regulation of cell migration [GO:0030336]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelium regeneration [GO:1905042]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of JNK cascade [GO:0046329]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of p38MAPK cascade [GO:1903753]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; negative regulation of respiratory burst involved in inflammatory response [GO:0060266]; oligodendrocyte differentiation [GO:0048709]; peptidyl-threonine dephosphorylation [GO:0035970]; peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity [GO:1990264]; positive regulation of regulatory T cell differentiation [GO:0045591]; protein dephosphorylation [GO:0006470]; regulation of adaptive immune response [GO:0002819]; regulation of brown fat cell differentiation [GO:0090335]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6W6-1; Sequence=Displayed; Name=2; IsoId=Q9Y6W6-2; Sequence=VSP_036549; 


uniprotID: Q6ZMT9
geneSymbol: DTHD1
name: Death domain-containing protein 1
length: 781
go: ENSG00000197057;
opentargets: signal transduction [GO:0007165]
snps: rs16992035 rs1995319 rs12507599 rs9654132
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMT9-1; Sequence=Displayed; Name=2; IsoId=Q6ZMT9-2; Sequence=VSP_035302, VSP_035303; Note=No experimental confirmation available.; 


uniprotID: Q96FJ2
geneSymbol: DYNLL2
pdb: 2XQQ;3P8M;4D07;
sequence: MSDRKAVIKNADMSEDMQQDAVDCATQAMEKYNIEKDIAAYIKKEFDKKYNPTWHCIVGRNFGSYVTHETKHFIYFYLGQVAILLFKSG
length: 89
go: ENSG00000264364;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q78P75}.
reactome:
R-HSA-139910;R-HSA-141444;R-HSA-1632852;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-5620924;R-HSA-5663220;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;

name:
Dynein light chain 2, cytoplasmic (8 kDa dynein light chain b) (DLC8b) (Dynein light chain LC8-type 2)

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; dynein complex [GO:0030286]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; microtubule [GO:0005874]; myosin V complex [GO:0031475]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; postsynaptic density [GO:0014069]; dynein intermediate chain binding [GO:0045505]; dynein light intermediate chain binding [GO:0051959]; motor activity [GO:0003774]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; scaffold protein binding [GO:0097110]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ER to Golgi vesicle-mediated transport [GO:0006888]; intraciliary transport involved in cilium assembly [GO:0035735]; macroautophagy [GO:0016236]; positive regulation of ATP-dependent microtubule motor activity, plus-end-directed [GO:2000582]


uniprotID: Q96EV8
geneSymbol: DTNBP1
reactome: R-HSA-432722;
length: 351
go: ENSG00000047579;
snps: rs16876589 rs17470454
name:
Dysbindin (Biogenesis of lysosome-related organelles complex 1 subunit 8) (BLOC-1 subunit 8) (Dysbindin-1) (Dystrobrevin-binding protein 1) (Hermansky-Pudlak syndrome 7 protein) (HPS7 protein)

sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; melanosome membrane [GO:0033162]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; neuron projection [GO:0043005]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; sarcoplasm [GO:0016528]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle membrane [GO:0030672]; actin cytoskeleton reorganization [GO:0031532]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; blood coagulation [GO:0007596]; dendrite morphogenesis [GO:0048813]; melanosome organization [GO:0032438]; negative regulation of protein binding [GO:0032091]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; neuron projection development [GO:0031175]; neuron projection morphogenesis [GO:0048812]; platelet dense granule organization [GO:0060155]; positive regulation of gene expression [GO:0010628]; positive regulation of neurotransmitter secretion [GO:0001956]; regulation of dopamine receptor signaling pathway [GO:0060159]; regulation of dopamine secretion [GO:0014059]; regulation of JUN kinase activity [GO:0043506]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=1; Synonyms=Dysbindin 1-A; IsoId=Q96EV8-1; Sequence=Displayed; Note=Major isoform.; Name=2; IsoId=Q96EV8-2; Sequence=VSP_009023; Note=May be due to intron retention.; Name=3; Synonyms=Dysbindin 1-B; IsoId=Q96EV8-3; Sequence=VSP_046062; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000269|PubMed:21390302}. Note=Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000269|PubMed:21390302}. Note=Shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also highly expressed in the nucleus. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.


uniprotID: P40939
geneSymbol: HADHA
reactome: R-HSA-1482798;R-HSA-77285;R-HSA-77288;R-HSA-77305;R-HSA-77310;R-HSA-77346;R-HSA-77348;R-HSA-77350;
pdb: 5ZQZ;5ZRV;6DV2;
length: 763
go: ENSG00000084754;
drug: DB00157;
snps: rs137852773 rs137852774 rs137852772 rs2229420 rs137852769
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Trifunctional enzyme subunit alpha, mitochondrial (78 kDa gastrin-binding protein) (TP-alpha) [Includes: Long-chain enoyl-CoA hydratase (EC 4.2.1.17); Long chain 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.211)]

sequence:

opentargets:
mitochondrial fatty acid beta-oxidation multienzyme complex [GO:0016507]; mitochondrial inner membrane [GO:0005743]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; acetyl-CoA C-acetyltransferase activity [GO:0003985]; enoyl-CoA hydratase activity [GO:0004300]; fatty-acyl-CoA binding [GO:0000062]; long-chain-3-hydroxyacyl-CoA dehydrogenase activity [GO:0016509]; long-chain-enoyl-CoA hydratase activity [GO:0016508]; NAD binding [GO:0051287]; protein-containing complex binding [GO:0044877]; fatty acid beta-oxidation [GO:0006635]; response to drug [GO:0042493]; response to insulin [GO:0032868]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P40939-1; Sequence=Displayed; Name=2; IsoId=P40939-2; Sequence=VSP_059010, VSP_059011; 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: O95905
geneSymbol: ECD
name: Protein ecdysoneless homolog (Human suppressor of GCR two) (hSGT1)
length: 644
go: ENSG00000122882;
snps: rs3812619 rs151023501 rs3736518 rs36152134 rs2271904
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone acetyltransferase binding [GO:0035035]; transcription coactivator activity [GO:0003713]; cell proliferation [GO:0008283]; mRNA processing [GO:0006397]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of glycolytic process [GO:0006110]; RNA splicing [GO:0008380]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95905-1; Sequence=Displayed; Name=2; IsoId=O95905-2; Sequence=VSP_045670; Note=No experimental confirmation available.; Name=3; IsoId=O95905-3; Sequence=VSP_045671; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16849563, ECO:0000269|PubMed:19919181, ECO:0000269|PubMed:26711270}. Nucleus {ECO:0000269|PubMed:16849563, ECO:0000269|PubMed:19919181, ECO:0000269|PubMed:26711270}. Note=Predominantly is located in the cytoplasm. {ECO:0000269|PubMed:16849563, ECO:0000269|PubMed:19919181, ECO:0000269|PubMed:26711270}.


uniprotID: P42892
geneSymbol: ECE1
reactome: R-HSA-375276;
pdb: 3DWB;
name: Endothelin-converting enzyme 1 (ECE-1) (EC 3.4.24.71)
length: 770
go: ENSG00000117298;
snps: rs1076669 rs3026906
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.
sequence:

opentargets:
early endosome [GO:0005769]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intrinsic component of endosome membrane [GO:0031302]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; Weibel-Palade body [GO:0033093]; endopeptidase activity [GO:0004175]; metalloendopeptidase activity [GO:0004222]; peptide hormone binding [GO:0017046]; protein homodimerization activity [GO:0042803]; zinc ion binding [GO:0008270]; bradykinin catabolic process [GO:0010815]; calcitonin catabolic process [GO:0010816]; ear development [GO:0043583]; embryonic digit morphogenesis [GO:0042733]; endothelin maturation [GO:0034959]; heart development [GO:0007507]; hormone catabolic process [GO:0042447]; peptide hormone processing [GO:0016486]; pharyngeal system development [GO:0060037]; positive regulation of receptor recycling [GO:0001921]; protein processing [GO:0016485]; regulation of systemic arterial blood pressure by endothelin [GO:0003100]; regulation of vasoconstriction [GO:0019229]; substance P catabolic process [GO:0010814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=B; IsoId=P42892-1; Sequence=Displayed; Name=A; IsoId=P42892-2; Sequence=VSP_005502; Name=C; IsoId=P42892-3; Sequence=VSP_005504; Name=D; IsoId=P42892-4; Sequence=VSP_005503; 


uniprotID: Q16828
geneSymbol: DUSP6
reactome: R-HSA-112409;R-HSA-202670;R-HSA-5675221;
pdb: 1HZM;1MKP;
length: 381
go: ENSG00000139318;
snps: rs587776978 rs2279574 rs770087 rs139318648 rs143946794 rs12828557 rs146089505
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8670865}.
name:
Dual specificity protein phosphatase 6 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase PYST1) (Mitogen-activated protein kinase phosphatase 3) (MAP kinase phosphatase 3) (MKP-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; activation of MAPK activity [GO:0000187]; cell differentiation [GO:0030154]; inactivation of MAPK activity [GO:0000188]; MAPK cascade [GO:0000165]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; peptidyl-tyrosine dephosphorylation [GO:0035335]; positive regulation of apoptotic process [GO:0043065]; protein dephosphorylation [GO:0006470]; regulation of heart growth [GO:0060420]; response to drug [GO:0042493]; response to growth factor [GO:0070848]; response to nitrosative stress [GO:0051409]; response to organic cyclic compound [GO:0014070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16828-1; Sequence=Displayed; Name=2; Synonyms=DUSP6-ALT; IsoId=Q16828-2; Sequence=VSP_005137; 


uniprotID: Q9C0G6
geneSymbol: DNAH6
name: Dynein heavy chain 6, axonemal (Axonemal beta dynein heavy chain 6) (Ciliary dynein heavy chain 6)
length: 4158
go: ENSG00000115423;
snps: rs61731722
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.
sequence:

opentargets:
axonemal dynein complex [GO:0005858]; dynein complex [GO:0030286]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; cilium-dependent cell motility [GO:0060285]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9C0G6-1; Sequence=Displayed; Name=2; IsoId=Q9C0G6-2; Sequence=VSP_031122, VSP_031129, VSP_031130; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0G6-3; Sequence=VSP_031123, VSP_031124, VSP_031125; Name=4; IsoId=Q9C0G6-4; Sequence=VSP_031126, VSP_031127, VSP_031128; Note=No experimental confirmation available.; 


uniprotID: Q8WXX0
geneSymbol: DNAH7
length: 4024
go: ENSG00000118997;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:11877439}.
name:
Dynein heavy chain 7, axonemal (Axonemal beta dynein heavy chain 7) (Ciliary dynein heavy chain 7) (Dynein heavy chain-like protein 2) (hDHC2)

sequence:

opentargets:
axonemal dynein complex [GO:0005858]; cilium [GO:0005929]; cytosol [GO:0005829]; dynein complex [GO:0030286]; inner dynein arm [GO:0036156]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; calcium ion binding [GO:0005509]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule motor activity [GO:0003777]; cilium movement [GO:0003341]; cilium-dependent cell motility [GO:0060285]; inner dynein arm assembly [GO:0036159]; microtubule-based movement [GO:0007018]

snps:
rs1072599 rs2375643 rs17838596 rs16843720 rs10931715 rs2635718 rs10198893 rs6719500 rs168192 rs13415574 rs13034775 rs2375544 rs2889109 rs10184131 rs16841199 rs2293066 rs16841018 rs13411834 rs6708527 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WXX0-1; Sequence=Displayed; Name=2; IsoId=Q8WXX0-2; Sequence=VSP_031131; Name=3; IsoId=Q8WXX0-3; Sequence=VSP_031132, VSP_031135, VSP_031136; Note=No experimental confirmation available.; Name=4; IsoId=Q8WXX0-4; Sequence=VSP_031133, VSP_031134; Note=No experimental confirmation available.; 


uniprotID: P63172
geneSymbol: DYNLT1
reactome: R-HSA-6798695;
pdb: 5JPW;
name: Dynein light chain Tctex-type 1 (Protein CW-1) (T-complex testis-specific protein 1 homolog)
length: 113
go: ENSG00000146425;
sequence:
MEDYQAAEETAFVVDEVSNIVKEAIESAIGGNAYQHSKVNQWTTNVVEQTLSQLTKLGKPFKYIVTCVIMQKNGAGLHTASSCFWDSSTDGSCTVRWENKTMYCIVSAFGLSI

opentargets:
axonal growth cone [GO:0044295]; cytoplasmic dynein complex [GO:0005868]; cytoplasmic microtubule [GO:0005881]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; host cell [GO:0043657]; lamellipodium [GO:0030027]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; secretory granule lumen [GO:0034774]; secretory vesicle [GO:0099503]; spindle [GO:0005819]; identical protein binding [GO:0042802]; motor activity [GO:0003774]; protein C-terminus binding [GO:0008022]; axon development [GO:0061564]; cell division [GO:0051301]; dendrite development [GO:0016358]; establishment of mitotic spindle orientation [GO:0000132]; intracellular transport of viral protein in host cell [GO:0019060]; microtubule-dependent intracellular transport of viral material towards nucleus [GO:0075521]; negative regulation of cell death [GO:0060548]; negative regulation of mitochondrial membrane permeability [GO:0035795]; negative regulation of neurogenesis [GO:0050768]; neuron projection morphogenesis [GO:0048812]; neutrophil degranulation [GO:0043312]; positive regulation of neuron projection development [GO:0010976]; positive regulation of Rac protein signal transduction [GO:0035022]; regulation of cytoskeleton organization [GO:0051493]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of GTPase activity [GO:0043087]; viral entry into host cell [GO:0046718]

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Note=Localizes to mitotic spindles. {ECO:0000250}.


uniprotID: Q86YB7
geneSymbol: ECHDC2
name: Enoyl-CoA hydratase domain-containing protein 2, mitochondrial
length: 292
go: ENSG00000121310;
snps: rs17854314
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
mitochondrion [GO:0005739]; enoyl-CoA hydratase activity [GO:0004300]; fatty acid beta-oxidation [GO:0006635]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YB7-1; Sequence=Displayed; Name=2; IsoId=Q86YB7-2; Sequence=VSP_029177; 


uniprotID: P20827
geneSymbol: EFNA1
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 3CZU;3HEI;3MBW;
length: 205
go: ENSG00000169242;
snps: rs4745
name:
Ephrin-A1 (EPH-related receptor tyrosine kinase ligand 1) (LERK-1) (Immediate early response protein B61) (Tumor necrosis factor alpha-induced protein 4) (TNF alpha-induced protein 4) [Cleaved into: Ephrin-A1, secreted form]

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; ephrin receptor binding [GO:0046875]; signaling receptor binding [GO:0005102]; angiogenesis [GO:0001525]; aortic valve morphogenesis [GO:0003180]; axon guidance [GO:0007411]; cell migration [GO:0016477]; cell-cell signaling [GO:0007267]; endocardial cushion to mesenchymal transition involved in heart valve formation [GO:0003199]; ephrin receptor signaling pathway [GO:0048013]; mitral valve morphogenesis [GO:0003183]; negative regulation of dendritic spine morphogenesis [GO:0061002]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of proteolysis involved in cellular protein catabolic process [GO:1903051]; negative regulation of thymocyte apoptotic process [GO:0070244]; negative regulation of transcription by RNA polymerase II [GO:0000122]; notochord formation [GO:0014028]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902961]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein tyrosine kinase activity [GO:0061098]; protein stabilization [GO:0050821]; regulation of angiogenesis [GO:0045765]; regulation of axonogenesis [GO:0050770]; regulation of blood vessel endothelial cell migration [GO:0043535]; regulation of cell adhesion mediated by integrin [GO:0033628]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20827-1; Sequence=Displayed; Name=2; IsoId=P20827-2; Sequence=VSP_017543; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18794797}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:18794797}.; SUBCELLULAR LOCATION: Ephrin-A1, secreted form: Secreted {ECO:0000269|PubMed:18794797}.


uniprotID: P43897
geneSymbol: TSFM
reactome: R-HSA-5389840;
pdb: 2CP9;
name: Elongation factor Ts, mitochondrial (EF-Ts) (EF-TsMt)
length: 325
go: ENSG00000123297;
snps: rs750799705 rs121909485
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; mitochondrial translational elongation [GO:0070125]; regulation of DNA-templated transcription, elongation [GO:0032784]; regulation of mitochondrial translation [GO:0070129]; translational elongation [GO:0006414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P43897-1; Sequence=Displayed; Name=2; IsoId=P43897-2; Sequence=VSP_001364; Note=No experimental confirmation available.; Name=3; IsoId=P43897-3; Sequence=VSP_043517, VSP_043518; Note=No experimental confirmation available.; Name=4; IsoId=P43897-4; Sequence=VSP_045283, VSP_045284; Note=No experimental confirmation available.; 


uniprotID: P07332
geneSymbol: FES
reactome: R-HSA-1433557;R-HSA-399954;R-HSA-399955;R-HSA-399956;
pdb: 1WQU;2DCR;3BKB;3CBL;3CD3;4DYL;4E93;
length: 822
go: ENSG00000182511;
snps: rs56041861 rs34573430 rs56296062
name:
Tyrosine-protein kinase Fes/Fps (EC 2.7.10.2) (Feline sarcoma/Fujinami avian sarcoma oncogene homolog) (Proto-oncogene c-Fes) (Proto-oncogene c-Fps) (p93c-fes)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; microtubule cytoskeleton [GO:0015630]; ATP binding [GO:0005524]; immunoglobulin receptor binding [GO:0034987]; microtubule binding [GO:0008017]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphatidylinositol binding [GO:0035091]; protein tyrosine kinase activity [GO:0004713]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; centrosome cycle [GO:0007098]; chemotaxis [GO:0006935]; microtubule bundle formation [GO:0001578]; multicellular organism development [GO:0007275]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of myeloid cell differentiation [GO:0045639]; positive regulation of neuron projection development [GO:0010976]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cell adhesion [GO:0030155]; regulation of cell differentiation [GO:0045595]; regulation of cell motility [GO:2000145]; regulation of cell proliferation [GO:0042127]; regulation of cell shape [GO:0008360]; regulation of mast cell degranulation [GO:0043304]; regulation of vesicle-mediated transport [GO:0060627]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P07332-1; Sequence=Displayed; Name=2; Synonyms=Variant 1; IsoId=P07332-2; Sequence=VSP_041748, VSP_041749; Name=3; Synonyms=Variant 3; IsoId=P07332-3; Sequence=VSP_041748; Name=4; Synonyms=Variant 4; IsoId=P07332-4; Sequence=VSP_041749; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle. Golgi apparatus. Cell junction, focal adhesion. Note=Distributed throughout the cytosol when the kinase is not activated. Association with microtubules requires activation of the kinase activity. Shuttles between focal adhesions and cell-cell contacts in epithelial cells. Recruited to the lateral cell membrane in polarized epithelial cells by interaction with phosphorylated EZR. Detected at tubular membrane structures in the cytoplasm and at the cell periphery.


uniprotID: P49411
geneSymbol: TUFM
reactome: R-HSA-5389840;
name: Elongation factor Tu, mitochondrial (EF-Tu) (P43)
length: 452
drug: DB04315;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22749352}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; synapse [GO:0045202]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; mitochondrial translational elongation [GO:0070125]; response to ethanol [GO:0045471]; translational elongation [GO:0006414]


uniprotID: O76093
geneSymbol: FGF18
pdb: 4CJM;
name: Fibroblast growth factor 18 (FGF-18) (zFGF5)
length: 207
go: ENSG00000156427;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839130;R-HSA-190322;R-HSA-190371;R-HSA-190372;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;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-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleolus [GO:0005730]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; type 1 fibroblast growth factor receptor binding [GO:0005105]; type 2 fibroblast growth factor receptor binding [GO:0005111]; anatomical structure morphogenesis [GO:0009653]; angiogenesis [GO:0001525]; cell-cell signaling [GO:0007267]; chondrocyte development [GO:0002063]; endochondral ossification [GO:0001958]; fibroblast growth factor receptor signaling pathway [GO:0008543]; intramembranous ossification [GO:0001957]; lung development [GO:0030324]; MAPK cascade [GO:0000165]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of endothelial cell chemotaxis to fibroblast growth factor [GO:2000546]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; signal transduction [GO:0007165]


uniprotID: Q99944
geneSymbol: EGFL8
length: 293
go: ENSG00000241404;
snps: rs3096697 rs2071289 rs35587174
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Epidermal growth factor-like protein 8 (EGF-like protein 8) (Vascular endothelial statin-2) (VE-statin-2)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; signaling receptor binding [GO:0005102]; anatomical structure development [GO:0048856]


uniprotID: Q9UHF1
geneSymbol: EGFL7
length: 273
go: ENSG00000172889;
snps: rs61736886 rs2297538 rs35863900 rs34142075
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:23386126}.
name:
Epidermal growth factor-like protein 7 (EGF-like protein 7) (Multiple epidermal growth factor-like domains protein 7) (Multiple EGF-like domains protein 7) (NOTCH4-like protein) (Vascular endothelial statin) (VE-statin) (Zneu1)

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; signaling receptor binding [GO:0005102]; anatomical structure development [GO:0048856]; angiogenesis [GO:0001525]; blood vessel development [GO:0001568]; cell adhesion [GO:0007155]; negative regulation of Notch signaling pathway [GO:0045746]; positive regulation of endothelial cell proliferation [GO:0001938]; vasculogenesis [GO:0001570]


uniprotID: P11161
geneSymbol: EGR2
reactome: R-HSA-381340;R-HSA-5617472;
length: 476
go: ENSG00000122877;
snps: rs104894158 rs104894161 rs281865137 rs104894160 rs104894159
location: SUBCELLULAR LOCATION: Nucleus.
name:
E3 SUMO-protein ligase EGR2 (EC 2.3.2.-) (AT591) (E3 SUMO-protein transferase ERG2) (Early growth response protein 2) (EGR-2) (Zinc finger protein Krox-20)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; transferase activity [GO:0016740]; ubiquitin protein ligase binding [GO:0031625]; brain development [GO:0007420]; brain segmentation [GO:0035284]; cellular response to organic substance [GO:0071310]; facial nerve structural organization [GO:0021612]; fat cell differentiation [GO:0045444]; learning or memory [GO:0007611]; motor neuron axon guidance [GO:0008045]; myelination [GO:0042552]; peripheral nervous system development [GO:0007422]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein export from nucleus [GO:0006611]; protein sumoylation [GO:0016925]; regulation of neuronal synaptic plasticity [GO:0048168]; regulation of ossification [GO:0030278]; regulation of transcription by RNA polymerase II [GO:0006357]; response to insulin [GO:0032868]; rhombomere 3 formation [GO:0021660]; rhombomere 5 formation [GO:0021666]; rhythmic behavior [GO:0007622]; Schwann cell differentiation [GO:0014037]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P11161-1; Sequence=Displayed; Name=Short; IsoId=P11161-2; Sequence=VSP_006863; Note=No experimental confirmation available.; 


