# annotation

uniprotID: Q5KSL6
geneSymbol: DGKK
reactome: R-HSA-114508;
length: 1271
go: ENSG00000274588;
snps: rs4074320
name:
Diacylglycerol kinase kappa (DAG kinase kappa) (EC 2.7.1.107) (142 kDa diacylglycerol kinase) (Diglyceride kinase kappa) (DGK-kappa)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; diacylglycerol kinase activity [GO:0004143]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; diacylglycerol metabolic process [GO:0046339]; intracellular signal transduction [GO:0035556]; platelet activation [GO:0030168]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; response to oxidative stress [GO:0006979]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16210324}. Membrane {ECO:0000269|PubMed:16210324}; Peripheral membrane protein {ECO:0000269|PubMed:16210324}.


uniprotID: Q9UJA9
geneSymbol: ENPP5
pdb: 5VEM;
name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 (E-NPP 5) (NPP-5) (EC 3.1.-.-)
length: 477
go: ENSG00000112796;
snps: rs3806995 rs34109856 rs34432940 rs6926570 rs16874326
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]; cell communication [GO:0007154]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q13574
geneSymbol: DGKZ
reactome: R-HSA-114508;
pdb: 5ELQ;
name: Diacylglycerol kinase zeta (DAG kinase zeta) (EC 2.7.1.107) (Diglyceride kinase zeta) (DGK-zeta)
length: 1117
go: ENSG00000149091;
snps: rs1317826 rs901998 rs17854149
sequence:

opentargets:
cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; lamellipodium [GO:0030027]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; diacylglycerol kinase activity [GO:0004143]; kinase activity [GO:0016301]; lipid kinase activity [GO:0001727]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; protein C-terminus binding [GO:0008022]; cell migration [GO:0016477]; diacylglycerol metabolic process [GO:0046339]; glycerolipid metabolic process [GO:0046486]; intracellular signal transduction [GO:0035556]; lipid phosphorylation [GO:0046834]; mitotic G1 DNA damage checkpoint [GO:0031571]; negative regulation of mitotic cell cycle [GO:0045930]; phosphatidic acid biosynthetic process [GO:0006654]; platelet activation [GO:0030168]; positive regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity [GO:0090216]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Long, zeta2; IsoId=Q13574-1; Sequence=Displayed; Note=Minor isoform.; Name=2; Synonyms=Short; IsoId=Q13574-2; Sequence=VSP_001268; Note=Major isoform.; Name=3; IsoId=Q13574-3; Sequence=VSP_043163, VSP_043164; Note=No experimental confirmation available.; Name=4; IsoId=Q13574-4; Sequence=VSP_001268, VSP_045628; Note=No experimental confirmation available.; Name=5; IsoId=Q13574-5; Sequence=VSP_001268, VSP_045628, VSP_046920; Note=No experimental confirmation available.; Name=6; IsoId=Q13574-6; Sequence=VSP_001268, VSP_045628, VSP_046919; Note=No experimental confirmation available.; Name=7; IsoId=Q13574-7; Sequence=VSP_055147, VSP_055148, VSP_045628; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11257115}. Nucleus {ECO:0000269|PubMed:11257115, ECO:0000269|PubMed:15157668, ECO:0000269|PubMed:9716136}. Cell membrane {ECO:0000269|PubMed:11257115}. Cell projection, lamellipodium {ECO:0000269|PubMed:15157668}.


uniprotID: Q6UWV6
geneSymbol: ENPP7
reactome: R-HSA-1660662;
pdb: 5TCD;5UDY;
length: 458
snps: rs8074547
name:
Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 (E-NPP 7) (NPP-7) (EC 3.1.4.12) (Alkaline sphingomyelin phosphodiesterase) (Intestinal alkaline sphingomyelinase) (Alk-SMase)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; sphingomyelin phosphodiesterase activity [GO:0004767]; zinc ion binding [GO:0008270]; glycosphingolipid metabolic process [GO:0006687]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA replication [GO:0008156]; sphingomyelin catabolic process [GO:0006685]; sphingomyelin metabolic process [GO:0006684]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12671034, ECO:0000269|PubMed:15205117}; Single-pass type I membrane protein {ECO:0000269|PubMed:12671034, ECO:0000269|PubMed:15205117}. Note=The catalytic domain is released into the extracellular medium when cells are treated with trypsin (PubMed:15205117). Localized at the surface of the microvillar membrane in small intestine enterocytes, and in endosome-like structures situated beneath the microvillar membrane, and in Golgi complex. {ECO:0000269|PubMed:12671034, ECO:0000269|PubMed:12885774, ECO:0000269|PubMed:15205117}.


uniprotID: Q14264
geneSymbol: ERV3-1
length: 604
go: ENSG00000213462;
snps: rs6460219 rs34639489 rs71539632 rs4618579 rs1406592674 rs4717229
location: SUBCELLULAR LOCATION: Virion.
name:
Endogenous retrovirus group 3 member 1 Env polyprotein (ERV-3 envelope protein) (ERV3 envelope protein) (ERV3-1 envelope protein) (Envelope polyprotein) (HERV-R envelope protein) (ERV-R envelope protein) (HERV-R_7q21.2 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:


uniprotID: Q6NXN4
geneSymbol: DPY19L2P1
length: 242
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Putative C-mannosyltransferase DPY19L2P1 (EC 2.4.1.-) (Dpy-19-like protein 2 pseudogene 1) (Protein dpy-19 homolog 2-like 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; mannosyltransferase activity [GO:0000030]; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan [GO:0018406]; spermatid development [GO:0007286]


uniprotID: Q9UI36
geneSymbol: DACH1
pdb: 1L8R;
name: Dachshund homolog 1 (Dach1)
length: 758
go: ENSG00000276644;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14525983}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly [GO:0001075]; cell proliferation [GO:0008283]; development of primary female sexual characteristics [GO:0046545]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation involved in contact inhibition [GO:0060244]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of nuclear cell cycle DNA replication [GO:0033262]; regulation of transcription, DNA-templated [GO:0006355]; respiratory gaseous exchange [GO:0007585]; suckling behavior [GO:0001967]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9UI36-1; Sequence=Displayed; Note=Derived from EST data. No experimental confirmation available.; Name=2; IsoId=Q9UI36-2; Sequence=VSP_009872; Note=Major.; Name=3; IsoId=Q9UI36-3; Sequence=VSP_009872, VSP_009873; Name=4; IsoId=Q9UI36-4; Sequence=VSP_009486; 


uniprotID: O15075
geneSymbol: DCLK1
pdb: 1MFW;1MG4;1UF0;5JZJ;5JZN;
length: 740
go: ENSG00000133083;
snps: rs56185003
name:
Serine/threonine-protein kinase DCLK1 (EC 2.7.11.1) (Doublecortin domain-containing protein 3A) (Doublecortin-like and CAM kinase-like 1) (Doublecortin-like kinase 1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; axon extension [GO:0048675]; central nervous system development [GO:0007417]; central nervous system projection neuron axonogenesis [GO:0021952]; dendrite morphogenesis [GO:0048813]; endosomal transport [GO:0016197]; forebrain development [GO:0030900]; intracellular signal transduction [GO:0035556]; negative regulation of protein localization to nucleus [GO:1900181]; nervous system development [GO:0007399]; neuron migration [GO:0001764]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; response to virus [GO:0009615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist. Type A (AS and AL) and type B (BS and BL) isoforms differ respectively by the presence or absence of the doublecortin domain. An alternative splicing occurring in 3' of the mRNA produces the long (L) instead of the short (S) isoforms.; Name=2; Synonyms=AL; IsoId=O15075-1; Sequence=Displayed; Name=1; Synonyms=AS; IsoId=O15075-2; Sequence=VSP_004907; Name=3; Synonyms=BS; IsoId=O15075-3; Sequence=VSP_004905, VSP_004906, VSP_004907; Name=4; Synonyms=BL; IsoId=O15075-4; Sequence=VSP_004905, VSP_004906; 


uniprotID: P11926
geneSymbol: ODC1
reactome: R-HSA-350562;R-HSA-351202;
pdb: 1D7K;2ON3;2OO0;4ZGY;5BWA;
name: Ornithine decarboxylase (ODC) (EC 4.1.1.17)
length: 461
go: ENSG00000115758;
drug: DB03856;DB06243;DB04263;DB04083;DB02824;DB01917;DB00114;DB02209;DB00127;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; ornithine decarboxylase activity [GO:0004586]; protein homodimerization activity [GO:0042803]; kidney development [GO:0001822]; polyamine metabolic process [GO:0006595]; positive regulation of cell proliferation [GO:0008284]; putrescine biosynthetic process from ornithine [GO:0033387]; regulation of cellular amino acid metabolic process [GO:0006521]; regulation of protein catabolic process [GO:0042176]; response to virus [GO:0009615]


uniprotID: Q5T1A1
geneSymbol: DCST2
name: DC-STAMP domain-containing protein 2
length: 773
go: ENSG00000163354;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T1A1-1; Sequence=Displayed; Name=2; IsoId=Q5T1A1-2; Sequence=VSP_023408, VSP_023409; Note=No experimental confirmation available.; 


uniprotID: Q9NPI6
geneSymbol: DCP1A
reactome: R-HSA-430039;R-HSA-450385;R-HSA-450513;R-HSA-975957;
pdb: 2WX3;4B6H;
length: 582
go: ENSG00000272886;
name:
mRNA-decapping enzyme 1A (EC 3.-.-.-) (Smad4-interacting transcriptional co-activator) (Transcription factor SMIF)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; P-body [GO:0000932]; enzyme activator activity [GO:0008047]; hydrolase activity [GO:0016787]; identical protein binding [GO:0042802]; kinesin binding [GO:0019894]; mRNA binding [GO:0003729]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; deadenylation-independent decapping of nuclear-transcribed mRNA [GO:0031087]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; protein localization to cytoplasmic stress granule [GO:1903608]; regulation of mRNA stability [GO:0043488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPI6-1; Sequence=Displayed; Name=2; IsoId=Q9NPI6-2; Sequence=VSP_057206; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:12417715, ECO:0000269|PubMed:12515382, ECO:0000269|PubMed:16364915}. Nucleus {ECO:0000269|PubMed:11836524, ECO:0000269|PubMed:12417715}. Note=Co-localizes with NANOS3 in the processing bodies (By similarity). Predominantly cytoplasmic, in processing bodies (PB) (PubMed:16364915). Nuclear, after TGFB1 treatment. Translocation to the nucleus depends on interaction with SMAD4 (PubMed:11836524). {ECO:0000250|UniProtKB:Q91YD3, ECO:0000269|PubMed:11836524, ECO:0000269|PubMed:16364915}.


uniprotID: Q96GG9
geneSymbol: DCUN1D1
reactome: R-HSA-8951664;
pdb: 3TDU;3TDZ;4P5O;5UFI;5V83;5V86;5V88;6B5Q;6BG3;6BG5;
length: 259
go: ENSG00000043093;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25349211}.
name:
DCN1-like protein 1 (DCUN1 domain-containing protein 1) (Defective in cullin neddylation protein 1-like protein 1) (Squamous cell carcinoma-related oncogene)

sequence:

opentargets:
cytosol [GO:0005829]; 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 protein neddylation [GO:2000436]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; post-translational protein modification [GO:0043687]; protein neddylation [GO:0045116]


uniprotID: Q9BSY9
geneSymbol: DESI2
length: 194
go: ENSG00000121644;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D291}.
name:
Deubiquitinase DESI2 (EC 3.4.19.12) (Desumoylating isopeptidase 2) (DeSI-2) (PPPDE peptidase domain-containing protein 1) (Protein FAM152A)

sequence:
MGANQLVVLNVYDMYWMNEYTSSIGIGVFHSGIEVYGREFAYGGHPYPFSGIFEISPGNASELGETFKFKEAVVLGSTDFLEDDIEKIVEELGKEYKGNAYHLMHKNCNHFSSALSEILCGKEIPRWINRLAYFSSCIPFLQSCLPKEWLTPAALQSSVSQELQDELEEAEDAAASASVASTAAGSRPGRHTKL

opentargets:
cytoplasm [GO:0005737]; Lys48-specific deubiquitinase activity [GO:1990380]; Lys63-specific deubiquitinase activity [GO:0061578]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSY9-1; Sequence=Displayed; Name=2; IsoId=Q9BSY9-2; Sequence=VSP_011422; Note=No experimental confirmation available.; 


uniprotID: O00273
geneSymbol: DFFA
reactome: R-HSA-211227;
pdb: 1IBX;1IYR;1KOY;
length: 331
go: ENSG00000160049;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
DNA fragmentation factor subunit alpha (DNA fragmentation factor 45 kDa subunit) (DFF-45) (Inhibitor of CAD) (ICAD)

sequence:

opentargets:
cytosol [GO:0005829]; lipid droplet [GO:0005811]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; deoxyribonuclease inhibitor activity [GO:0060703]; protein binding involved in protein folding [GO:0044183]; protein domain specific binding [GO:0019904]; apoptotic DNA fragmentation [GO:0006309]; chaperone-mediated protein folding [GO:0061077]; negative regulation of apoptotic DNA fragmentation [GO:1902511]; negative regulation of deoxyribonuclease activity [GO:0032076]; negative regulation of execution phase of apoptosis [GO:1900118]; positive regulation of apoptotic process [GO:0043065]; thymocyte apoptotic process [GO:0070242]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=DFF45; IsoId=O00273-1; Sequence=Displayed; Name=DFF35; IsoId=O00273-2; Sequence=VSP_001085, VSP_001086; 


uniprotID: Q6ZPD8
geneSymbol: DGAT2L6
reactome: R-HSA-1482883;
length: 337
go: ENSG00000184210;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
Diacylglycerol O-acyltransferase 2-like protein 6 (EC 2.3.1.-) (Diacylglycerol O-acyltransferase candidate 3) (hDC3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; diacylglycerol O-acyltransferase activity [GO:0004144]; acylglycerol acyl-chain remodeling [GO:0036155]


uniprotID: Q14129
geneSymbol: DGCR6
name: Protein DGCR6 (DiGeorge syndrome critical region 6)
length: 220
go: ENSG00000183628;
snps: rs16983281
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15821931}. Note=Predominantly nuclear.
sequence:

opentargets:
extracellular matrix [GO:0031012]; nucleus [GO:0005634]; animal organ morphogenesis [GO:0009887]; cell adhesion [GO:0007155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14129-1; Sequence=Displayed; Name=2; Synonyms=C; IsoId=Q14129-2; Sequence=VSP_055898, VSP_055899; 


uniprotID: Q96PD7
geneSymbol: DGAT2
reactome: R-HSA-1482883;R-HSA-75109;
length: 388
go: ENSG00000062282;
snps: rs869025595 rs34421064 rs34113941
name:
Diacylglycerol O-acyltransferase 2 (EC 2.3.1.20) (Acyl-CoA retinol O-fatty-acyltransferase) (ARAT) (Retinol O-fatty-acyltransferase) (EC 2.3.1.76) (Diglyceride acyltransferase 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; 2-acylglycerol O-acyltransferase activity [GO:0003846]; diacylglycerol O-acyltransferase activity [GO:0004144]; protein homodimerization activity [GO:0042803]; retinol O-fatty-acyltransferase activity [GO:0050252]; acylglycerol acyl-chain remodeling [GO:0036155]; cellular response to oleic acid [GO:0071400]; cellular triglyceride homeostasis [GO:0035356]; cholesterol homeostasis [GO:0042632]; diacylglycerol metabolic process [GO:0046339]; fat pad development [GO:0060613]; fatty acid homeostasis [GO:0055089]; glycerol metabolic process [GO:0006071]; lipid storage [GO:0019915]; long-chain fatty-acyl-CoA metabolic process [GO:0035336]; low-density lipoprotein particle clearance [GO:0034383]; negative regulation of fatty acid oxidation [GO:0046322]; positive regulation of gluconeogenesis [GO:0045722]; positive regulation of triglyceride biosynthetic process [GO:0010867]; regulation of cholesterol metabolic process [GO:0090181]; regulation of lipoprotein metabolic process [GO:0050746]; regulation of plasma lipoprotein particle levels [GO:0097006]; triglyceride biosynthetic process [GO:0019432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PD7-1; Sequence=Displayed; Name=2; IsoId=Q96PD7-2; Sequence=VSP_020356; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14521909}; Multi-pass membrane protein {ECO:0000269|PubMed:14521909}. Lipid droplet {ECO:0000250}.


uniprotID: O14638
geneSymbol: ENPP3
reactome: R-HSA-199220;
pdb: 6C01;6C02;
length: 875
go: ENSG00000154269;
snps: rs9321309 rs36094194 rs17601580
name:
Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (E-NPP 3) (NPP3) (Phosphodiesterase I beta) (PD-Ibeta) (Phosphodiesterase I/nucleotide pyrophosphatase 3) (CD antigen CD203c) [Includes: Alkaline phosphodiesterase I (EC 3.1.4.1); Nucleotide pyrophosphatase (NPPase) (EC 3.6.1.9) (Nucleotide diphosphatase)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; calcium ion binding [GO:0005509]; NADH pyrophosphatase activity [GO:0035529]; nucleic acid binding [GO:0003676]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; phosphodiesterase I activity [GO:0004528]; polysaccharide binding [GO:0030247]; scavenger receptor activity [GO:0005044]; zinc ion binding [GO:0008270]; ATP metabolic process [GO:0046034]; basophil activation involved in immune response [GO:0002276]; negative regulation of inflammatory response [GO:0050728]; negative regulation of mast cell activation involved in immune response [GO:0033007]; negative regulation of mast cell proliferation [GO:0070667]; nucleoside triphosphate catabolic process [GO:0009143]; phosphate-containing compound metabolic process [GO:0006796]; pyrimidine nucleotide metabolic process [GO:0006220]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11342463}; Single-pass type II membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000269|PubMed:15072822}; Single-pass type II membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:15072822}. Note=Detected at the cell surface of basophils (PubMed:11342463). Detected at the apical plasma membrane of bile duct cells (PubMed:15072822). Located to the apical surface in intestinal and kidney epithelial cells. Secreted in serum, and in lumen of epithelial cells. {ECO:0000269|PubMed:11342463, ECO:0000269|PubMed:15072822}.


uniprotID: Q16760
geneSymbol: DGKD
reactome: R-HSA-114508;
pdb: 1R79;3BQ7;
length: 1214
go: ENSG00000077044;
drug: DB00144;
name:
Diacylglycerol kinase delta (DAG kinase delta) (EC 2.7.1.107) (130 kDa diacylglycerol kinase) (Diglyceride kinase delta) (DGK-delta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; diacylglycerol binding [GO:0019992]; diacylglycerol kinase activity [GO:0004143]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; diacylglycerol metabolic process [GO:0046339]; endocytosis [GO:0006897]; epidermal growth factor receptor signaling pathway [GO:0007173]; lipid phosphorylation [GO:0046834]; multicellular organism development [GO:0007275]; platelet activation [GO:0030168]; protein homooligomerization [GO:0051260]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; protein transport [GO:0015031]; response to organic substance [GO:0010033]; second-messenger-mediated signaling [GO:0019932]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q16760-1; Sequence=Displayed; Name=1; IsoId=Q16760-2; Sequence=VSP_012891; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:12200442}.; SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000269|PubMed:12200442}; Peripheral membrane protein {ECO:0000269|PubMed:12200442}.


uniprotID: P52824
geneSymbol: DGKQ
reactome: R-HSA-114508;
length: 942
go: ENSG00000145214;
snps: rs17855876
name:
Diacylglycerol kinase theta (DAG kinase theta) (EC 2.7.1.107) (Diglyceride kinase theta) (DGK-theta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endosome [GO:0005768]; glutamatergic synapse [GO:0098978]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynapse [GO:0098793]; vesicle membrane [GO:0012506]; activating transcription factor binding [GO:0033613]; ATP binding [GO:0005524]; diacylglycerol kinase activity [GO:0004143]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; phospholipase binding [GO:0043274]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; cAMP-mediated signaling [GO:0019933]; diacylglycerol metabolic process [GO:0046339]; G protein-coupled receptor signaling pathway [GO:0007186]; glycerolipid metabolic process [GO:0046486]; lipid phosphorylation [GO:0046834]; negative regulation of gene expression [GO:0010629]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; peptidyl-serine phosphorylation [GO:0018105]; phosphatidic acid biosynthetic process [GO:0006654]; platelet activation [GO:0030168]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; protein kinase C signaling [GO:0070528]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of cholesterol metabolic process [GO:0090181]; regulation of cortisol biosynthetic process [GO:2000064]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of gluconeogenesis [GO:0006111]; regulation of progesterone biosynthetic process [GO:2000182]; regulation of synaptic vesicle endocytosis [GO:1900242]; regulation of TORC1 signaling [GO:1903432]; regulation of transcription by RNA polymerase II [GO:0006357]; response to ATP [GO:0033198]; response to cAMP [GO:0051591]; thrombin-activated receptor signaling pathway [GO:0070493]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15632189}. Cell membrane {ECO:0000269|PubMed:10066731, ECO:0000269|PubMed:15632189}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10066731}. Nucleus {ECO:0000269|PubMed:12799190}. Nucleus speckle {ECO:0000269|PubMed:12799190}. Note=Translocates to the nucleus in response to thrombin stimulation (PubMed:15632189). Translocates to the plasma membrane in response to steroid hormone receptor stimulation (PubMed:15632189). Translocation to the plasma membrane is dependent on G-protein coupled receptor stimulation and subsequent activation of PRKCE and probably PRKCH (PubMed:15632189).


uniprotID: Q8NCG7
geneSymbol: DAGLB
reactome: R-HSA-426048;
name: Sn1-specific diacylglycerol lipase beta (DGL-beta) (EC 3.1.1.-) (KCCR13L)
length: 672
go: ENSG00000164535;
snps: rs2303361
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; acylglycerol lipase activity [GO:0047372]; metal ion binding [GO:0046872]; arachidonic acid metabolic process [GO:0019369]; diacylglycerol catabolic process [GO:0046340]; endocannabinoid signaling pathway [GO:0071926]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; neuroblast proliferation [GO:0007405]; neurogenesis [GO:0022008]; neurotransmitter biosynthetic process [GO:0042136]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NCG7-1; Sequence=Displayed; Name=2; IsoId=Q8NCG7-2; Sequence=VSP_020245; Note=No experimental confirmation available.; Name=3; IsoId=Q8NCG7-3; Sequence=VSP_020246, VSP_020247; Note=No experimental confirmation available.; Name=4; IsoId=Q8NCG7-4; Sequence=VSP_043309; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14610053}; Multi-pass membrane protein {ECO:0000269|PubMed:14610053}.


uniprotID: P49961
geneSymbol: ENTPD1
reactome: R-HSA-8850843;
length: 510
go: ENSG00000138185;
snps: rs3793744
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Ectonucleoside triphosphate diphosphohydrolase 1 (NTPDase 1) (EC 3.6.1.5) (Ecto-ATP diphosphohydrolase 1) (Ecto-ATPDase 1) (Ecto-ATPase 1) (Ecto-apyrase) (Lymphoid cell activation antigen) (CD antigen CD39)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; 8-oxo-dGTP phosphohydrolase activity [GO:0102490]; ATP binding [GO:0005524]; dATP phosphohydrolase activity [GO:0102485]; dCTP phosphohydrolase activity [GO:0102486]; dGTP phosphohydrolase activity [GO:0102491]; dTTP phosphohydrolase activity [GO:0102488]; dUTP phosphohydrolase activity [GO:0102487]; GTP phosphohydrolase activity [GO:0102489]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphatase activity [GO:0017111]; blood coagulation [GO:0007596]; cell adhesion [GO:0007155]; nucleobase-containing small molecule catabolic process [GO:0034656]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Vascular; IsoId=P49961-1; Sequence=Displayed; Name=2; Synonyms=Placental I; IsoId=P49961-2; Sequence=VSP_003607; Name=3; Synonyms=Placental II; IsoId=P49961-3; Sequence=VSP_003607, VSP_003608, VSP_003609; Name=4; IsoId=P49961-4; Sequence=VSP_044284; Name=5; IsoId=P49961-5; Sequence=VSP_044283; Name=6; IsoId=P49961-6; Sequence=VSP_046050; Note=No experimental confirmation available.; 


uniprotID: O75355
geneSymbol: ENTPD3
reactome: R-HSA-8850843;
length: 529
go: ENSG00000168032;
snps: rs17852714 rs34266806 rs4470483 rs1047855 rs3733167
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Ectonucleoside triphosphate diphosphohydrolase 3 (NTPDase 3) (EC 3.6.1.5) (CD39 antigen-like 3) (Ecto-ATP diphosphohydrolase 3) (Ecto-ATPDase 3) (Ecto-ATPase 3) (Ecto-apyrase 3) (HB6)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 8-oxo-dGTP phosphohydrolase activity [GO:0102490]; ATP binding [GO:0005524]; dATP phosphohydrolase activity [GO:0102485]; dCTP phosphohydrolase activity [GO:0102486]; dGTP phosphohydrolase activity [GO:0102491]; dTTP phosphohydrolase activity [GO:0102488]; dUTP phosphohydrolase activity [GO:0102487]; GTP phosphohydrolase activity [GO:0102489]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphatase activity [GO:0017111]; nucleobase-containing small molecule catabolic process [GO:0034656]; nucleoside diphosphate catabolic process [GO:0009134]; nucleoside triphosphate catabolic process [GO:0009143]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75355-1; Sequence=Displayed; Name=2; IsoId=O75355-2; Sequence=VSP_054237; Note=No experimental confirmation available.; 


uniprotID: Q9Y227
geneSymbol: ENTPD4
reactome: R-HSA-8850843;
length: 616
go: ENSG00000197217;
snps: rs549468877 rs2272641
name:
Ectonucleoside triphosphate diphosphohydrolase 4 (NTPDase 4) (EC 3.6.1.6) (Lysosomal apyrase-like protein of 70 kDa) (Uridine-diphosphatase) (UDPase)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; Golgi membrane [GO:0000139]; integral component of autophagosome membrane [GO:0097637]; integral component of Golgi membrane [GO:0030173]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphatase activity [GO:0017111]; uridine-diphosphatase activity [GO:0045134]; nucleobase-containing small molecule catabolic process [GO:0034656]; UDP catabolic process [GO:0006256]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LALP70; IsoId=Q9Y227-1; Sequence=Displayed; Name=2; Synonyms=LALP70V; IsoId=Q9Y227-2; Sequence=VSP_003614; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Localizes in the Golgi and autophagic vacuoles/lysosomes.


uniprotID: O75354
geneSymbol: ENTPD6
reactome: R-HSA-8850843;
name: Ectonucleoside triphosphate diphosphohydrolase 6 (NTPDase 6) (EC 3.6.1.6) (CD39 antigen-like 2)
length: 484
go: ENSG00000197586;
snps: rs2076559 rs1044567 rs34007133 rs6050446 rs6138541
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity [GO:0008894]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphatase activity [GO:0017111]; uridine-diphosphatase activity [GO:0045134]; nucleobase-containing small molecule catabolic process [GO:0034656]; response to calcium ion [GO:0051592]; response to magnesium ion [GO:0032026]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75354-1; Sequence=Displayed; Name=2; IsoId=O75354-2; Sequence=VSP_039122; Name=3; IsoId=O75354-3; Sequence=VSP_054314; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Note=But also occurs in a soluble extracellular form.


uniprotID: Q9NQZ7
geneSymbol: ENTPD7
reactome: R-HSA-8850843;
length: 604
go: ENSG00000198018;
snps: rs11190245
name:
Ectonucleoside triphosphate diphosphohydrolase 7 (NTPDase 7) (EC 3.6.1.-) (Lysosomal apyrase-like protein 1)

sequence:

opentargets:
endocytic vesicle membrane [GO:0030666]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; nucleoside-triphosphatase activity [GO:0017111]; nucleobase-containing small molecule catabolic process [GO:0034656]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Localizes to intracellular vesicular compartments. {ECO:0000269|PubMed:11278936}.


uniprotID: Q5MY95
geneSymbol: ENTPD8
reactome: R-HSA-8850843;
name: Ectonucleoside triphosphate diphosphohydrolase 8 (E-NTPDase 8) (NTPDase 8) (NTPDase8) (EC 3.6.1.5)
length: 495
go: ENSG00000188833;
snps: rs6606582 rs61491031
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 8-oxo-dGTP phosphohydrolase activity [GO:0102490]; ATP binding [GO:0005524]; dATP phosphohydrolase activity [GO:0102485]; dCTP phosphohydrolase activity [GO:0102486]; dGTP phosphohydrolase activity [GO:0102491]; dTTP phosphohydrolase activity [GO:0102488]; dUTP phosphohydrolase activity [GO:0102487]; GTP phosphohydrolase activity [GO:0102489]; metal ion binding [GO:0046872]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphatase activity [GO:0017111]; nucleobase-containing small molecule catabolic process [GO:0034656]; nucleoside diphosphate biosynthetic process [GO:0009133]; nucleoside monophosphate biosynthetic process [GO:0009124]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5MY95-1; Sequence=Displayed; Name=2; IsoId=Q5MY95-2; Sequence=VSP_028559; 


uniprotID: Q96C92
geneSymbol: ENTR1
length: 435
go: ENSG00000165689;
snps: rs7047681 rs17851182 rs3812577 rs1131992 rs17855450
name:
Endosome-associated-trafficking regulator 1 (Antigen NY-CO-3) (Serologically defined colon cancer antigen 3)

sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; early endosome [GO:0005769]; endosome [GO:0005768]; midbody [GO:0030496]; recycling endosome [GO:0055037]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell projection organization [GO:0030030]; positive regulation of cilium assembly [GO:0045724]; positive regulation of protein localization to cilium [GO:1903566]; protein transport [GO:0015031]; regulation of cytokinesis [GO:0032465]; retrograde transport, endosome to plasma membrane [GO:1990126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96C92-1; Sequence=Displayed; Name=2; IsoId=Q96C92-2; Sequence=VSP_032177; Name=3; IsoId=Q96C92-3; Sequence=VSP_032176; Name=4; IsoId=Q96C92-4; Sequence=VSP_040477; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AIW0}. Early endosome {ECO:0000269|PubMed:23108400}. Endosome {ECO:0000269|PubMed:25278552}. Recycling endosome {ECO:0000269|PubMed:23108400}. Midbody {ECO:0000269|PubMed:23108400}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23108400, ECO:0000269|PubMed:27767179}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27767179}. Note=Colocalizes in a WASHC2-dependent manner with the retromer CSC complex at endosomes (PubMed:25278552). During cytokinesis colocalized with PTPN13 at the midbody (PubMed:23108400). Colocalizes with IFT88 and gamma-tubulin at the basal body of primary cilia (PubMed:27767179). Colocalizes with IFT88 and pericentrin at the centrosome (PubMed:27767179). {ECO:0000269|PubMed:23108400, ECO:0000269|PubMed:25278552, ECO:0000269|PubMed:27767179}.


uniprotID: Q01459
geneSymbol: CTBS
name: Di-N-acetylchitobiase (EC 3.2.1.-)
length: 385
go: ENSG00000117151;
snps: rs15911 rs3768249
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
extracellular space [GO:0005615]; lysosome [GO:0005764]; chitin binding [GO:0008061]; chitinase activity [GO:0004568]; chitin catabolic process [GO:0006032]; oligosaccharide catabolic process [GO:0009313]


uniprotID: Q7Z478
geneSymbol: DHX29
name: ATP-dependent RNA helicase DHX29 (EC 3.6.4.13) (DEAH box protein 29) (Nucleic acid helicase DDXx)
length: 1369
go: ENSG00000067248;
snps: rs35874395 rs17854904
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03068}.
sequence:

opentargets:
eukaryotic 43S preinitiation complex [GO:0016282]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; cadherin binding [GO:0045296]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; positive regulation of translational initiation [GO:0045948]


uniprotID: Q9H7Y0
geneSymbol: CXorf36
name: Deleted in autism-related protein 1
length: 433
go: ENSG00000147113;
opentargets: extracellular region [GO:0005576]
snps: rs1132201 rs9969
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7Y0-1; Sequence=Displayed; Name=2; IsoId=Q9H7Y0-2; Sequence=VSP_035633, VSP_035634; 


uniprotID: O60879
geneSymbol: DIAPH2
reactome: R-HSA-5663220;
name: Protein diaphanous homolog 2 (Diaphanous-related formin-2) (DRF2)
length: 1101
go: ENSG00000147202;
snps: rs20361 rs20361
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; actin binding [GO:0003779]; Rho GTPase binding [GO:0017048]; signaling receptor binding [GO:0005102]; actin filament organization [GO:0007015]; female gamete generation [GO:0007292]; multicellular organism development [GO:0007275]; oogenesis [GO:0048477]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=DIA-156; IsoId=O60879-1; Sequence=Displayed; Name=2; Synonyms=DIA-12C, DIA2B; IsoId=O60879-2; Sequence=VSP_001573; Name=3; Synonyms=DIA2C; IsoId=O60879-3; Sequence=VSP_012955, VSP_012956; 

location:
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytosol. Early endosome. Note=Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes.


uniprotID: Q7L7V1
geneSymbol: DHX32
length: 743
go: ENSG00000089876;
snps: rs11244674 rs35772239 rs17153669
name:
Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 (EC 3.6.4.13) (DEAD/H box 32) (DEAD/H helicase-like protein 1) (DHLP1) (DEAH box protein 32) (HuDDX32)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L7V1-1; Sequence=Displayed; Name=2; IsoId=Q7L7V1-2; Sequence=VSP_026427; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16959245}. Mitochondrion {ECO:0000269|PubMed:16959245}.


uniprotID: Q14147
geneSymbol: DHX34
name: Probable ATP-dependent RNA helicase DHX34 (EC 3.6.4.13) (DEAH box protein 34)
length: 1143
go: ENSG00000134815;
snps: rs12984558 rs8113564
sequence:

opentargets:
membrane [GO:0016020]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]; negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:2000623]; nuclear-transcribed mRNA catabolic process [GO:0000956]


uniprotID: Q9H2U1
geneSymbol: DHX36
reactome: R-HSA-3134963;
pdb: 2N16;2N21;
length: 1008
go: ENSG00000174953;
snps: rs1058299 rs9438 rs17853513
name:
ATP-dependent DNA/RNA helicase DHX36 (EC 3.6.4.12) (EC 3.6.4.13) (DEAD/H box polypeptide 36) (DEAH-box protein 36) (G4-resolvase-1) (G4R1) (MLE-like protein 1) (RNA helicase associated with AU-rich element protein)

sequence:

opentargets:
axon [GO:0030424]; chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; perikaryon [GO:0043204]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; ATP-dependent DNA helicase activity [GO:0004003]; ATP-dependent RNA helicase activity [GO:0004004]; DNA-dependent ATPase activity [GO:0008094]; double-stranded RNA binding [GO:0003725]; G-quadruplex DNA binding [GO:0051880]; G-quadruplex RNA binding [GO:0002151]; histone deacetylase binding [GO:0042826]; magnesium ion binding [GO:0000287]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-UTR binding [GO:0003730]; mRNA 5'-UTR binding [GO:0048027]; pre-miRNA binding [GO:0070883]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; single-stranded DNA binding [GO:0003697]; telomerase RNA binding [GO:0070034]; transcription regulatory region DNA binding [GO:0044212]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; cellular response to arsenite ion [GO:1903843]; cellular response to heat [GO:0034605]; cellular response to UV [GO:0034644]; defense response to virus [GO:0051607]; G-quadruplex DNA unwinding [GO:0044806]; innate immune response [GO:0045087]; negative regulation of translation [GO:0017148]; ossification [GO:0001503]; positive regulation of cardioblast differentiation [GO:0051891]; positive regulation of cytoplasmic translation [GO:2000767]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of gene expression [GO:0010628]; positive regulation of hematopoietic progenitor cell differentiation [GO:1901534]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of intracellular mRNA localization [GO:1904582]; positive regulation of mRNA 3'-end processing [GO:0031442]; positive regulation of myeloid dendritic cell cytokine production [GO:0002735]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of telomere maintenance [GO:0032206]; positive regulation of telomere maintenance via telomere lengthening [GO:1904358]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; positive regulation of type I interferon production [GO:0032481]; regulation of embryonic development [GO:0045995]; regulation of mRNA stability [GO:0043488]; regulation of transcription by RNA polymerase III [GO:0006359]; regulation of transcription from RNA polymerase II promoter involved in spermatogenesis [GO:1902064]; response to exogenous dsRNA [GO:0043330]; RNA secondary structure unwinding [GO:0010501]; spermatogenesis [GO:0007283]; telomerase RNA stabilization [GO:0090669]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Nuclear isoform {ECO:0000303|PubMed:14731398}; IsoId=Q9H2U1-1; Sequence=Displayed; Name=2; Synonyms=Cytoplasmic isoform, RHAU-delta 14 {ECO:0000303|PubMed:14731398}; IsoId=Q9H2U1-2; Sequence=VSP_020006; Note=More unstable than isoform 1. {ECO:0000269|PubMed:14731398}; Name=3; IsoId=Q9H2U1-3; Sequence=VSP_020007; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18279852, ECO:0000269|PubMed:18854321}. Cytoplasm {ECO:0000269|PubMed:18279852, ECO:0000269|PubMed:18854321}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8VHK9}. Cytoplasm, Stress granule {ECO:0000269|PubMed:18854321}. Nucleus speckle {ECO:0000269|PubMed:18279852}. Chromosome, telomere {ECO:0000269|PubMed:20472641}. Mitochondrion {ECO:0000250|UniProtKB:Q8VHK9}. Perikaryon {ECO:0000250|UniProtKB:D4A2Z8}. Cell projection, dendrite {ECO:0000250|UniProtKB:D4A2Z8}. Cell projection, axon {ECO:0000250|UniProtKB:D4A2Z8}. Note=Predominantly localized in the nucleus (PubMed:18279852). Colocalizes with SRSF2 in nuclear speckles (PubMed:18279852). Colocalizes with DDX5 in nucleolar caps upon transcription inhibition (PubMed:18279852). Accumulates and colocalized with TIA1 in cytoplasmic stress granules (SGs) in an arsenite-, heat shock- and RNA-binding-dependent manner (PubMed:18854321). Shuttles into and out of SGs in an ATPase-dependent manner (PubMed:18854321). Colocalizes in the cytosol with the multi-helicase-TICAM1 complex that translocates to the mitochondria upon poly(I:C) RNA ligand stimulation (By similarity). {ECO:0000250|UniProtKB:Q8VHK9, ECO:0000269|PubMed:18279852, ECO:0000269|PubMed:18854321}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:14731398}. Cytoplasm {ECO:0000269|PubMed:14731398}. Note=Preferentially localized in the nucleus (PubMed:14731398). Excluded from nucleoli (PubMed:14731398). {ECO:0000269|PubMed:14731398}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:14731398}. Cytoplasm {ECO:0000269|PubMed:14731398}. Note=Preferentially localized in the cytoplasm (PubMed:14731398). Excluded from nucleoli (PubMed:14731398). {ECO:0000269|PubMed:14731398}.


uniprotID: Q9NPA8
geneSymbol: ENY2
reactome: R-HSA-3214847;
pdb: 4DHX;
name: Transcription and mRNA export factor ENY2 (Enhancer of yellow 2 transcription factor homolog)
length: 101
go: ENSG00000120533;
sequence:
MVVSKMNKDAQMRAAINQKLIETGERERLKELLRAKLIECGWKDQLKAHCKEVIKEKGLEHVTVDDLVAEITPKGRALVPDSVKKELLQRIRTFLAQHASL

opentargets:
DUBm complex [GO:0071819]; mitochondrion [GO:0005739]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; SAGA complex [GO:0000124]; transcription export complex 2 [GO:0070390]; chromatin binding [GO:0003682]; nuclear receptor transcription coactivator activity [GO:0030374]; transcription coactivator activity [GO:0003713]; histone deubiquitination [GO:0016578]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; poly(A)+ mRNA export from nucleus [GO:0016973]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPA8-1; Sequence=Displayed; Name=2; IsoId=Q9NPA8-2; Sequence=VSP_046891; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000255|HAMAP-Rule:MF_03046, ECO:0000269|PubMed:22307388}. Nucleus, nuclear pore complex {ECO:0000255|HAMAP-Rule:MF_03046, ECO:0000269|PubMed:22307388}.


uniprotID: A7MBM2
geneSymbol: DISP2
reactome: R-HSA-5362798;
name: Protein dispatched homolog 2
length: 1401
go: ENSG00000140323;
snps: rs1898883 rs1898882 rs35043215 rs2412512 rs3743142
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; smoothened signaling pathway [GO:0007224]


uniprotID: Q9P2K9
geneSymbol: DISP3
name: Protein dispatched homolog 3 (Patched domain-containing protein 2)
length: 1392
go: ENSG00000204624;
snps: rs41274528 rs3738159 rs2817580 rs2072994 rs2072993 rs12096312
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; negative regulation of neuron differentiation [GO:0045665]; positive regulation of lipid metabolic process [GO:0045834]; positive regulation of neural precursor cell proliferation [GO:2000179]; regulation of lipid transport [GO:0032368]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2K9-1; Sequence=Displayed; Name=2; IsoId=Q9P2K9-2; Sequence=VSP_028966; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19179482}; Multi-pass membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000269|PubMed:19179482}; Multi-pass membrane protein {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:B9U3F2}; Multi-pass membrane protein {ECO:0000305}. Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Note=Predominantly localized to cholesterol-enriched domains within the membrane (PubMed:19179482). Localizes to cytoplasmic punctate vesicular structures (By similarity). {ECO:0000250|UniProtKB:B9U3F2, ECO:0000269|PubMed:19179482}.


uniprotID: Q5NDL2
geneSymbol: EOGT
length: 527
go: ENSG00000163378;
snps: rs587776993 rs587776995
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
name:
EGF domain-specific O-linked N-acetylglucosamine transferase (EC 2.4.1.255) (Extracellular O-linked N-acetylglucosamine transferase)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; protein N-acetylglucosaminyltransferase activity [GO:0016262]; protein O-linked glycosylation [GO:0006493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5NDL2-1; Sequence=Displayed; Name=2; IsoId=Q5NDL2-2; Sequence=VSP_027897, VSP_027898; Name=3; IsoId=Q5NDL2-3; Sequence=VSP_027899; Note=No experimental confirmation available.; 


uniprotID: Q9NVM6
geneSymbol: DNAJC17
pdb: 2D9O;
name: DnaJ homolog subfamily C member 17
length: 304
go: ENSG00000104129;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; RNA binding [GO:0003723]; negative regulation of transcription by RNA polymerase II [GO:0000122]; toxin transport [GO:1901998]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:D3ZSC8}. Nucleus {ECO:0000250|UniProtKB:D3ZSC8}. Note=Predominantly nuclear. {ECO:0000250|UniProtKB:D3ZSC8}.


uniprotID: Q5F1R6
geneSymbol: DNAJC21
name: DnaJ homolog subfamily C member 21 (DnaJ homolog subfamily A member 5) (Protein GS3)
length: 531
go: ENSG00000168724;
snps: rs879253818 rs34908091
sequence:

opentargets:
nucleolus [GO:0005730]; ribosome [GO:0005840]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5F1R6-1; Sequence=Displayed; Name=2; IsoId=Q5F1R6-2; Sequence=VSP_024005; Note=No experimental confirmation available.; Name=3; IsoId=Q5F1R6-3; Sequence=VSP_024004; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27346687}. Nucleus {ECO:0000269|PubMed:27346687}. Nucleus, nucleolus {ECO:0000269|PubMed:27346687}. Note=Within the nucleus, localizes primarily to the nucleolus. {ECO:0000269|PubMed:27346687}.


uniprotID: Q6P3W2
geneSymbol: DNAJC24
reactome: R-HSA-5358493;
pdb: 2L6L;
length: 149
go: ENSG00000170946;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
name:
DnaJ homolog subfamily C member 24 (CSL-type zinc finger-containing protein 3) (Diphthamide biosynthesis protein 4)

sequence:
MMAVEQMPKKDWYSILGADPSANISDLKQKYQKLILMYHPDKQSTDVPAGTVEECVQKFIEIDQAWKILGNEETKREYDLQRCEDDLRNVGPVDAQVYLEEMSWNEGDHSFYLSCRCGGKYSVSKDEAEEVSLISCDTCSLIIELLHYN

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; ATPase activator activity [GO:0001671]; ferrous iron binding [GO:0008198]; zinc ion binding [GO:0008270]; chaperone-mediated protein folding [GO:0061077]; oxidation-reduction process [GO:0055114]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]; positive regulation of ATPase activity [GO:0032781]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P3W2-1; Sequence=Displayed; Name=2; IsoId=Q6P3W2-2; Sequence=VSP_056274; Note=No experimental confirmation available.; 


uniprotID: Q9H1X3
geneSymbol: DNAJC25
name: DnaJ homolog subfamily C member 25
length: 360
go: ENSG00000059769;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H1X3-1; Sequence=Displayed; Name=2; IsoId=Q9H1X3-2; Sequence=VSP_035180; Name=3; IsoId=Q9H1X3-3; Sequence=VSP_035181, VSP_035182; 


uniprotID: P56851
geneSymbol: EDDM3B
name: Epididymal secretory protein E3-beta (Human epididymis-specific protein 3-beta) (HE3-beta)
length: 147
go: ENSG00000181552;
opentargets: extracellular region [GO:0005576]
snps: rs3827906
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MASSLKIWGTLLALLCILCTLLVQSKEVSWREFMKQHYLSPSREFREYKCDVLMRENEALKDKSSHMFIYISWYKIEHICTSDNWMDRFRNAYVWVQNPLKVLKCHQENSKNSYTESRSFNYIEFHCSMDGYVDSIEDLKMVEPIGN


uniprotID: Q9NZQ0
geneSymbol: DNAJC27
pdb: 2YS8;
name: DnaJ homolog subfamily C member 27 (Rab and DnaJ domain-containing protein)
length: 273
go: ENSG00000115137;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CFP6}.
sequence:

opentargets:
nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; Rab protein signal transduction [GO:0032482]; regulation of MAPK export from nucleus [GO:0071701]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NZQ0-1; Sequence=Displayed; Name=2; IsoId=Q9NZQ0-2; Sequence=VSP_033409, VSP_033410; Name=3; IsoId=Q9NZQ0-3; Sequence=VSP_033411, VSP_033412; 


uniprotID: Q14236
geneSymbol: DIAPH2-AS1
name: Early lymphoid activation gene protein (DIAPH2 antisense RNA 1) (DIAPH2 antisense gene protein 1)
length: 149
opentargets: signal transduction [GO:0007165]
sequence:
MNLYLHPKLWPQLAGTKTLHVADAQRVRKITVHDGIWDAELPRAKRNHSYHLRYHGSSYSRCFLERYRCKTIGVFRRSNQPDCLETRSEKAKNRDGVVQEKSVRTLFSECVNQCDIRRRPTRFLRMFYHQKHFQLGLKGTETEKNERRL


uniprotID: P16452
geneSymbol: EPB42
name: Erythrocyte membrane protein band 4.2 (Erythrocyte protein 4.2) (P4.2)
length: 691
go: ENSG00000166947;
snps: rs104894487 rs143682977 rs121917734 rs515726212
sequence:

opentargets:
cortical cytoskeleton [GO:0030863]; cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein-glutamine gamma-glutamyltransferase activity [GO:0003810]; structural constituent of cytoskeleton [GO:0005200]; cell morphogenesis [GO:0000902]; erythrocyte maturation [GO:0043249]; hemoglobin metabolic process [GO:0020027]; iron ion homeostasis [GO:0055072]; peptide cross-linking [GO:0018149]; regulation of cell shape [GO:0008360]; spleen development [GO:0048536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Short; IsoId=P16452-1; Sequence=Displayed; Note=Major isoform.; Name=Long; IsoId=P16452-2; Sequence=VSP_006416; Name=3; IsoId=P16452-3; Sequence=VSP_055340; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.


uniprotID: Q9UBT3
geneSymbol: DKK4
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-5339717;
pdb: 5O57;
length: 224
go: ENSG00000104371;
location: SUBCELLULAR LOCATION: Secreted.
name:
Dickkopf-related protein 4 (Dickkopf-4) (Dkk-4) (hDkk-4) [Cleaved into: Dickkopf-related protein 4 short form]

sequence:

opentargets:
extracellular space [GO:0005615]; co-receptor binding [GO:0039706]; receptor antagonist activity [GO:0048019]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of hair follicle placode formation [GO:0061170]; negative regulation of Wnt signaling pathway [GO:0030178]; Wnt signaling pathway [GO:0016055]


uniprotID: Q52LR7
geneSymbol: EPC2
name: Enhancer of polycomb homolog 2 (EPC-like)
length: 807
go: ENSG00000135999;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
Piccolo NuA4 histone acetyltransferase complex [GO:0032777]; DNA repair [GO:0006281]; histone acetylation [GO:0016573]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q92796
geneSymbol: DLG3
reactome: R-HSA-447038;R-HSA-451308;R-HSA-6794361;R-HSA-8849932;
pdb: 1UM7;2FE5;2I1N;
length: 817
go: ENSG00000082458;
snps: rs1449722258
name:
Disks large homolog 3 (Neuroendocrine-DLG) (Synapse-associated protein 102) (SAP-102) (SAP102) (XLMR)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; postsynaptic density, intracellular component [GO:0099092]; ionotropic glutamate receptor binding [GO:0035255]; kinase binding [GO:0019900]; ligand-gated ion channel activity [GO:0015276]; PDZ domain binding [GO:0030165]; phosphatase binding [GO:0019902]; protein C-terminus binding [GO:0008022]; protein phosphatase binding [GO:0019903]; structural constituent of postsynaptic density [GO:0098919]; ubiquitin protein ligase binding [GO:0031625]; cell-cell adhesion [GO:0098609]; chemical synaptic transmission [GO:0007268]; establishment of planar polarity [GO:0001736]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; negative regulation of cell proliferation [GO:0008285]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of protein tyrosine kinase activity [GO:0061098]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92796-1; Sequence=Displayed; Name=2; IsoId=Q92796-2; Sequence=VSP_035940, VSP_035941, VSP_035942; Note=No experimental confirmation available.; Name=3; IsoId=Q92796-3; Sequence=VSP_043717, VSP_035942; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: Q9Y238
geneSymbol: DLEC1
name: Deleted in lung and esophageal cancer protein 1 (Deleted in lung cancer protein 1) (DLC-1)
length: 1755
go: ENSG00000008226;
snps: rs7625806 rs34012183 rs36012922 rs9840172 rs9810085
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10213508}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; negative regulation of cell proliferation [GO:0008285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=At least six differentially spliced products may exist. {ECO:0000303|PubMed:10213508}; Name=1 {ECO:0000303|PubMed:10213508}; IsoId=Q9Y238-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q9Y238-2; Sequence=VSP_051847, VSP_051848, VSP_051849; Note=No experimental confirmation available. Levels of this splice isoform may be increased in cancer cell lines and primary cancers. {ECO:0000303|PubMed:10213508, ECO:0000305}; Name=3; Synonyms=1S3 {ECO:0000303|PubMed:10213508}; IsoId=Q9Y238-3; Sequence=VSP_051850; Note=Levels of this splice isoform are increased in cancer cell lines and primary cancers. {ECO:0000269|PubMed:10213508}; 


uniprotID: Q6ZS02
geneSymbol: DNM1P46
name: Putative GED domain-containing protein DNM1P46 (DNM1 pseudogene 46)
length: 220
snps: rs4965539
sequence:


uniprotID: P28067
geneSymbol: HLA-DMA
reactome: R-HSA-2132295;
pdb: 1HDM;2BC4;4FQX;4GBX;
length: 261
snps: rs1063478 rs6926628 rs17214044 rs41555121 rs9469319
name:
HLA class II histocompatibility antigen, DM alpha chain (MHC class II antigen DMA) (Really interesting new gene 6 protein)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; MHC class II protein complex binding [GO:0023026]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; peptide antigen assembly with MHC class II protein complex [GO:0002503]

location:
SUBCELLULAR LOCATION: Late endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=Localizes to late endocytic compartment. Associates with lysosome membranes.


uniprotID: Q6IED9
geneSymbol: DGAT2L7P
reactome: R-HSA-1482883;
length: 249
name:
Putative diacylglycerol O-acyltransferase 2-like protein DGAT2L7P (EC 2.3.1.-) (Diacylglycerol O-acyltransferase 2-like 7 pseudogene)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; diacylglycerol O-acyltransferase activity [GO:0004144]; acylglycerol acyl-chain remodeling [GO:0036155]


uniprotID: O75907
geneSymbol: DGAT1
reactome: R-HSA-1482883;R-HSA-6798695;R-HSA-75109;
length: 488
go: ENSG00000185000;
name:
Diacylglycerol O-acyltransferase 1 (EC 2.3.1.20) (ACAT-related gene product 1) (Acyl-CoA retinol O-fatty-acyltransferase) (ARAT) (Retinol O-fatty-acyltransferase) (EC 2.3.1.76) (Diglyceride acyltransferase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; 2-acylglycerol O-acyltransferase activity [GO:0003846]; diacylglycerol O-acyltransferase activity [GO:0004144]; retinol O-fatty-acyltransferase activity [GO:0050252]; transferase activity, transferring acyl groups [GO:0016746]; acylglycerol acyl-chain remodeling [GO:0036155]; diacylglycerol metabolic process [GO:0046339]; fatty acid homeostasis [GO:0055089]; lipid storage [GO:0019915]; long-chain fatty-acyl-CoA metabolic process [GO:0035336]; neutrophil degranulation [GO:0043312]; triglyceride biosynthetic process [GO:0019432]; triglyceride metabolic process [GO:0006641]; very-low-density lipoprotein particle assembly [GO:0034379]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9Z2A7}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9Z2A7}.


uniprotID: P22413
geneSymbol: ENPP1
reactome: R-HSA-196843;R-HSA-199220;
pdb: 2YS0;
length: 925
go: ENSG00000197594;
drug: DB01143;DB00811;
name:
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP 1) (Membrane component chromosome 6 surface marker 1) (Phosphodiesterase I/nucleotide pyrophosphatase 1) (Plasma-cell membrane glycoprotein PC-1) [Includes: Alkaline phosphodiesterase I (EC 3.1.4.1); Nucleotide pyrophosphatase (NPPase) (EC 3.6.1.9) (Nucleotide diphosphatase)]

sequence:

opentargets:
apical dendrite [GO:0097440]; basal dendrite [GO:0097441]; basolateral plasma membrane [GO:0016323]; cell projection [GO:0042995]; cell surface [GO:0009986]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; synapse [GO:0045202]; 3'-phosphoadenosine 5'-phosphosulfate binding [GO:0050656]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; exonuclease activity [GO:0004527]; insulin receptor binding [GO:0005158]; NADH pyrophosphatase activity [GO:0035529]; nucleic acid binding [GO:0003676]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; nucleotide diphosphatase activity [GO:0004551]; phosphodiesterase I activity [GO:0004528]; polysaccharide binding [GO:0030247]; protein homodimerization activity [GO:0042803]; scavenger receptor activity [GO:0005044]; zinc ion binding [GO:0008270]; 3'-phosphoadenosine 5'-phosphosulfate metabolic process [GO:0050427]; ATP metabolic process [GO:0046034]; biomineral tissue development [GO:0031214]; bone remodeling [GO:0046849]; cellular phosphate ion homeostasis [GO:0030643]; cellular response to acidic pH [GO:0071468]; cellular response to cAMP [GO:0071320]; cellular response to insulin stimulus [GO:0032869]; cellular response to mechanical stimulus [GO:0071260]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cerebellum development [GO:0021549]; cerebral cortex development [GO:0021987]; generation of precursor metabolites and energy [GO:0006091]; hippocampus development [GO:0021766]; immune response [GO:0006955]; inorganic diphosphate transport [GO:0030505]; liver development [GO:0001889]; negative regulation of cell growth [GO:0030308]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of glucose import [GO:0046325]; negative regulation of glycogen biosynthetic process [GO:0045719]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of protein autophosphorylation [GO:0031953]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; nucleoside triphosphate catabolic process [GO:0009143]; olfactory bulb development [GO:0021772]; phosphate-containing compound metabolic process [GO:0006796]; regulation of bone mineralization [GO:0030500]; response to mechanical stimulus [GO:0009612]; riboflavin metabolic process [GO:0006771]; sequestering of triglyceride [GO:0030730]; striatum development [GO:0021756]

snps:
rs397518477 rs397518476 rs1044498 rs397518475 rs2273411 rs763457176 rs760786509 rs1231182870 rs754659608 rs121908248 rs17847050 rs143771474 rs190947144 rs374270497 rs121918025 rs764735802 rs121918026 rs765071179 rs148462924 rs373044722 rs1243920034 rs387906673 rs140248167 rs121918024 rs777367269 rs79079368 rs143393727 rs115371819 rs28933977 rs147346173 rs1805138 rs370184526 rs367759638 rs8192683 rs184483616 rs121908249 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27467858}; Single-pass type II membrane protein. Basolateral cell membrane; Single-pass type II membrane protein. Secreted {ECO:0000250}. Note=The proteolytically processed form is secreted (By similarity). Targeted to the basolateral membrane in polarized epithelial cells and in hepatocytes, and to matrix vesicles in osteoblasts. In bile duct cells and cancer cells, located to the apical cytoplasmic side. {ECO:0000250, ECO:0000269|PubMed:11598187, ECO:0000269|PubMed:15072822, ECO:0000269|PubMed:8001561}.


uniprotID: Q16854
geneSymbol: DGUOK
reactome: R-HSA-74217;
pdb: 2OCP;
name: Deoxyguanosine kinase, mitochondrial (dGK) (EC 2.7.1.113)
length: 277
go: ENSG00000114956;
drug: DB01280;
snps: rs762550967 rs763615602 rs104893631 rs144181978 rs74874677 rs104893632 rs749464475 rs886037846
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ATP binding [GO:0005524]; deoxyguanosine kinase activity [GO:0004138]; deoxynucleoside kinase activity [GO:0019136]; nucleoside kinase activity [GO:0019206]; dGTP metabolic process [GO:0046070]; guanosine metabolic process [GO:0008617]; negative regulation of neuron projection development [GO:0010977]; protein phosphorylation [GO:0006468]; purine deoxyribonucleoside metabolic process [GO:0046122]; purine-containing compound salvage [GO:0043101]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q16854-1; Sequence=Displayed; Name=2; IsoId=Q16854-2; Sequence=VSP_003025; Name=3; IsoId=Q16854-3; Sequence=VSP_003024; Name=4; IsoId=Q16854-4; Sequence=VSP_003024, VSP_003025; Name=5; IsoId=Q16854-5; Sequence=VSP_003026, VSP_003024; Name=6; IsoId=Q16854-6; Sequence=VSP_056026, VSP_056027; Note=No experimental confirmation available.; 


uniprotID: P37058
geneSymbol: HSD17B3
reactome: R-HSA-193048;R-HSA-75876;
length: 310
go: ENSG00000130948;
drug: DB00157;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:26545797}.
name:
Testosterone 17-beta-dehydrogenase 3 (EC 1.1.1.64) (17-beta-hydroxysteroid dehydrogenase type 3) (17-beta-HSD 3) (Short chain dehydrogenase/reductase family 12C member 2) (Testicular 17-beta-hydroxysteroid dehydrogenase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; testosterone 17-beta-dehydrogenase (NADP+) activity [GO:0047045]; testosterone dehydrogenase (NAD+) activity [GO:0047035]; androgen biosynthetic process [GO:0006702]; male genitalia development [GO:0030539]; steroid biosynthetic process [GO:0006694]; testosterone biosynthetic process [GO:0061370]

snps:
rs2066480 rs119481078 rs747329682 rs119481075 rs119481077 rs119481079 rs747724352 rs767259718 rs119481076 rs372027264 rs115063639 rs28939085 rs119481074 rs119481080 rs144809928 rs2066479 rs2066479 rs2066479 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P37058-1; Sequence=Displayed; Name=2; IsoId=P37058-2; Sequence=VSP_056640; Note=No experimental confirmation available.; 


uniprotID: P51659
geneSymbol: HSD17B4
reactome: R-HSA-193368;R-HSA-2046106;R-HSA-389887;R-HSA-390247;R-HSA-9033241;R-HSA-9033500;
pdb: 1IKT;1S9C;1ZBQ;
length: 736
go: ENSG00000133835;
drug: DB03192;DB00157;
location: SUBCELLULAR LOCATION: Peroxisome.
name:
Peroxisomal multifunctional enzyme type 2 (MFE-2) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) (D-bifunctional protein) (DBP) (Multifunctional protein 2) (MPF-2) (Short chain dehydrogenase/reductase family 8C member 1) [Cleaved into: (3R)-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.n12); Enoyl-CoA hydratase 2 (EC 4.2.1.107) (EC 4.2.1.119) (3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase)]

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; 17-beta-hydroxysteroid dehydrogenase (NAD+) activity [GO:0044594]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity [GO:0033989]; isomerase activity [GO:0016853]; long-chain-enoyl-CoA hydratase activity [GO:0016508]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; alpha-linolenic acid metabolic process [GO:0036109]; androgen metabolic process [GO:0008209]; bile acid biosynthetic process [GO:0006699]; estrogen metabolic process [GO:0008210]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; medium-chain fatty-acyl-CoA metabolic process [GO:0036112]; osteoblast differentiation [GO:0001649]; protein targeting to peroxisome [GO:0006625]; Sertoli cell development [GO:0060009]; very long-chain fatty acid metabolic process [GO:0000038]; very long-chain fatty-acyl-CoA metabolic process [GO:0036111]

snps:
rs137853096 rs28943588 rs25640 rs25640 rs28943589 rs387906825 rs1143650 rs28943590 rs137853097 rs28943591 rs11539471 rs11205 rs15228 rs28943592 rs28943594 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51659-1; Sequence=Displayed; Name=2; IsoId=P51659-2; Sequence=VSP_046152; Note=No experimental confirmation available.; Name=3; IsoId=P51659-3; Sequence=VSP_046153; Note=No experimental confirmation available.; 


uniprotID: P61550
geneSymbol: ERVS71-1
length: 626
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
name:
Endogenous retrovirus group S71 member 1 Env polyprotein (Envelope polyprotein) (HERV-T Env protein) (HERV-T_19q13.11 provirus ancestral Env polyprotein) [Includes: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=At the origin, this retroviral envelope protein was localized in the virion. {ECO:0000305}.


uniprotID: Q92506
geneSymbol: HSD17B8
reactome: R-HSA-75105;
pdb: 2PD6;4CQL;4CQM;
length: 261
go: ENSG00000204228;
drug: DB03461;DB00157;
snps: rs34491699
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:19571038}.
name:
Estradiol 17-beta-dehydrogenase 8 (EC 1.1.1.62) (17-beta-hydroxysteroid dehydrogenase 8) (17-beta-HSD 8) (3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit) (KAR alpha subunit) (3-oxoacyl-[acyl-carrier-protein] reductase) (EC 1.1.1.-) (Protein Ke6) (Ke-6) (Really interesting new gene 2 protein) (Short chain dehydrogenase/reductase family 30C member 1) (Testosterone 17-beta-dehydrogenase 8) (EC 1.1.1.239)

sequence:

opentargets:
mitochondrial envelope [GO:0005740]; mitochondrial matrix [GO:0005759]; plasma membrane [GO:0005886]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity [GO:0047025]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; NADH binding [GO:0070404]; testosterone dehydrogenase (NAD+) activity [GO:0047035]; androgen metabolic process [GO:0008209]; estrogen biosynthetic process [GO:0006703]; fatty acid biosynthetic process [GO:0006633]; oxidation-reduction process [GO:0055114]; protein heterotetramerization [GO:0051290]


uniprotID: Q7Z5J1
geneSymbol: HSD11B1L
length: 315
go: ENSG00000167733;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Hydroxysteroid 11-beta-dehydrogenase 1-like protein (EC 1.1.1.-) (11-beta-hydroxysteroid dehydrogenase type 3) (11-DH3) (11-beta-HSD3) (Short chain dehydrogenase/reductase family 26C member 2) (Short-chain dehydrogenase/reductase 10)

sequence:

opentargets:
extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; oxidoreductase activity [GO:0016491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q7Z5J1-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q7Z5J1-2; Sequence=VSP_030796, VSP_030797; Name=3; Synonyms=G; IsoId=Q7Z5J1-3; Sequence=VSP_030793; Name=4; Synonyms=F; IsoId=Q7Z5J1-4; Sequence=VSP_030791; Name=5; Synonyms=C; IsoId=Q7Z5J1-5; Sequence=VSP_030792, VSP_030796, VSP_030797; Name=6; Synonyms=A; IsoId=Q7Z5J1-6; Sequence=VSP_030793, VSP_030796, VSP_030797; Name=7; Synonyms=D; IsoId=Q7Z5J1-7; Sequence=VSP_030791, VSP_030796, VSP_030797; Name=8; IsoId=Q7Z5J1-8; Sequence=VSP_030794, VSP_030795; 


uniprotID: O75911
geneSymbol: DHRS3
reactome: R-HSA-2187335;R-HSA-5365859;
length: 302
go: ENSG00000162496;
drug: DB00162;
snps: rs1128251
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Short-chain dehydrogenase/reductase 3 (EC 1.1.1.300) (DD83.1) (Retinal short-chain dehydrogenase/reductase 1) (retSDR1) (Retinol dehydrogenase 17) (Short chain dehydrogenase/reductase family 16C member 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; photoreceptor outer segment membrane [GO:0042622]; electron transfer activity [GO:0009055]; NADP-retinol dehydrogenase activity [GO:0052650]; nucleotide binding [GO:0000166]; retinol dehydrogenase activity [GO:0004745]; bone morphogenesis [GO:0060349]; cardiac septum morphogenesis [GO:0060411]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; outflow tract morphogenesis [GO:0003151]; regulation of ossification [GO:0030278]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]; roof of mouth development [GO:0060021]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75911-1; Sequence=Displayed; Name=2; IsoId=O75911-2; Sequence=VSP_013256, VSP_013257; Note=No experimental confirmation available.; 


uniprotID: Q8N5I4
geneSymbol: DHRSX
length: 330
go: ENSG00000169084;
snps: rs1127915 rs3210910 rs12010
name:
Dehydrogenase/reductase SDR family member on chromosome X (EC 1.1.-.-) (DHRSXY) (Short chain dehydrogenase/reductase family 46C member 1) (Short chain dehydrogenase/reductase family 7C member 6)

sequence:

opentargets:
extracellular region [GO:0005576]; oxidoreductase activity [GO:0016491]; positive regulation of autophagy [GO:0010508]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25076851}. Note=Secreted in a non-classical form. A signal peptide sequence at position 1-31 is predicted.


uniprotID: Q96HY7
geneSymbol: DHTKD1
reactome: R-HSA-389661;
length: 919
go: ENSG00000181192;
snps: rs1279138 rs3740015 rs17849603 rs34716552 rs2062988 rs117225135
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23141294}.
name:
Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial (EC 1.2.4.2) (Dehydrogenase E1 and transketolase domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; oxoglutarate dehydrogenase complex [GO:0045252]; oxoglutarate dehydrogenase (succinyl-transferring) activity [GO:0004591]; thiamine pyrophosphate binding [GO:0030976]; generation of precursor metabolites and energy [GO:0006091]; glycolytic process [GO:0006096]; hematopoietic progenitor cell differentiation [GO:0002244]; tricarboxylic acid cycle [GO:0006099]


uniprotID: Q00796
geneSymbol: SORD
reactome: R-HSA-5652227;R-HSA-5661270;
pdb: 1PL6;1PL7;1PL8;
name: Sorbitol dehydrogenase (EC 1.1.1.14) (L-iditol 2-dehydrogenase)
length: 357
go: ENSG00000140263;
drug: DB00157;
snps: rs1042079 rs930337
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; motile cilium [GO:0031514]; carbohydrate binding [GO:0030246]; D-xylulose reductase activity [GO:0046526]; identical protein binding [GO:0042802]; L-iditol 2-dehydrogenase activity [GO:0003939]; NAD binding [GO:0051287]; zinc ion binding [GO:0008270]; flagellated sperm motility [GO:0030317]; fructose biosynthetic process [GO:0046370]; glucose metabolic process [GO:0006006]; glucuronate catabolic process to xylulose 5-phosphate [GO:0019640]; L-xylitol catabolic process [GO:0051160]; L-xylitol metabolic process [GO:0051164]; response to cadmium ion [GO:0046686]; response to copper ion [GO:0046688]; response to drug [GO:0042493]; response to hormone [GO:0009725]; response to nutrient levels [GO:0031667]; response to osmotic stress [GO:0006970]; sorbitol catabolic process [GO:0006062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00796-1; Sequence=Displayed; Name=2; IsoId=Q00796-2; Sequence=VSP_056353, VSP_056354; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250|UniProtKB:Q64442}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q64442}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q64442}. Note=Associated with mitochondria of the midpiece and near the plasma membrane in the principal piece of the flagellum. Also found in the epididymosome, secreted by the epididymal epithelium and that transfers proteins from the epididymal fluid to the sperm surface. {ECO:0000250|UniProtKB:Q64442}.


uniprotID: O43143
geneSymbol: DHX15
reactome: R-HSA-72163;
pdb: 5XDR;
length: 795
go: ENSG00000109606;
location: SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus.
name:
Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15 (EC 3.6.4.13) (ATP-dependent RNA helicase #46) (DEAH box protein 15)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U12-type spliceosomal complex [GO:0005689]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; double-stranded RNA binding [GO:0003725]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; response to alkaloid [GO:0043279]; response to toxic substance [GO:0009636]; RNA splicing [GO:0008380]


uniprotID: O60610
geneSymbol: DIAPH1
reactome: R-HSA-5663220;R-HSA-6785631;R-HSA-6798695;
name: Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1)
length: 1272
go: ENSG00000131504;
snps: rs186370335
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ficolin-1-rich granule membrane [GO:0101003]; microtubule organizing center [GO:0005815]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; secretory granule membrane [GO:0030667]; actin binding [GO:0003779]; ion channel binding [GO:0044325]; Rho GTPase binding [GO:0017048]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; actin cytoskeleton organization [GO:0030036]; actin filament polymerization [GO:0030041]; cellular response to histamine [GO:0071420]; cytoskeleton organization [GO:0007010]; neutrophil degranulation [GO:0043312]; positive regulation of cell migration [GO:0030335]; protein localization to microtubule [GO:0035372]; regulation of cell motility [GO:2000145]; regulation of cell shape [GO:0008360]; regulation of cytoskeleton organization [GO:0051493]; regulation of microtubule-based process [GO:0032886]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60610-1; Sequence=Displayed; Name=2; IsoId=O60610-2; Sequence=VSP_035870, VSP_035871, VSP_035872; Name=3; IsoId=O60610-3; Sequence=VSP_035870; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O08808}. Cell projection, ruffle membrane {ECO:0000250|UniProtKB:O08808}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24781755}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24781755}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:24781755}. Cytoplasm {ECO:0000250|UniProtKB:O08808}. Nucleus {ECO:0000250|UniProtKB:O08808}. Note=Membrane ruffles, especially at the tip of ruffles, of motile cells. {ECO:0000250|UniProtKB:O08808}.


uniprotID: Q9UPY3
geneSymbol: DICER1
reactome: R-HSA-203927;R-HSA-426486;
pdb: 2EB1;4NGB;4NGC;4NGD;4NGF;4NGG;4NH3;4NH5;4NH6;4NHA;4WYQ;5ZAK;5ZAL;5ZAM;
name: Endoribonuclease Dicer (EC 3.1.26.3) (Helicase with RNase motif) (Helicase MOI)
length: 1922
go: ENSG00000100697;
snps: rs387906934 rs137852976 rs775912475
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16424907}.
sequence:

opentargets:
ARC complex [GO:0033167]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; growth cone [GO:0030426]; micro-ribonucleoprotein complex [GO:0035068]; nucleus [GO:0005634]; RISC complex [GO:0016442]; RISC-loading complex [GO:0070578]; ATP binding [GO:0005524]; deoxyribonuclease I activity [GO:0004530]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; endoribonuclease activity [GO:0004521]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; pre-miRNA binding [GO:0070883]; protein domain specific binding [GO:0019904]; ribonuclease III activity [GO:0004525]; siRNA binding [GO:0035197]; apoptotic DNA fragmentation [GO:0006309]; conversion of ds siRNA to ss siRNA [GO:0036404]; conversion of ds siRNA to ss siRNA involved in RNA interference [GO:0033168]; miRNA loading onto RISC involved in gene silencing by miRNA [GO:0035280]; miRNA metabolic process [GO:0010586]; negative regulation of Schwann cell proliferation [GO:0010626]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nerve development [GO:0021675]; neuron projection morphogenesis [GO:0048812]; peripheral nervous system myelin formation [GO:0032290]; positive regulation of myelination [GO:0031643]; positive regulation of Schwann cell differentiation [GO:0014040]; pre-miRNA processing [GO:0031054]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; production of siRNA involved in RNA interference [GO:0030422]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]; siRNA loading onto RISC involved in RNA interference [GO:0035087]; targeting of mRNA for destruction involved in RNA interference [GO:0030423]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPY3-1; Sequence=Displayed; Name=2; Synonyms=t-Dicer; IsoId=Q9UPY3-2; Sequence=VSP_042832; Name=3; IsoId=Q9UPY3-3; Sequence=VSP_055341, VSP_055342; Note=No experimental confirmation available.; 


uniprotID: Q9Y2E4
geneSymbol: DIP2C
name: Disco-interacting protein 2 homolog C (DIP2 homolog C)
length: 1556
go: ENSG00000151240;
opentargets: catalytic activity [GO:0003824]
snps: rs771008735 rs929297365
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2E4-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E4-2; Sequence=VSP_056898, VSP_056899, VSP_056900; Note=No experimental confirmation available.; 


uniprotID: O95057
geneSymbol: DIRAS1
pdb: 2GF0;
length: 198
go: ENSG00000176490;
name:
GTP-binding protein Di-Ras1 (Distinct subgroup of the Ras family member 1) (Ras-related inhibitor of cell growth) (Rig) (Small GTP-binding tumor suppressor 1)

sequence:
MPEQSNDYRVVVFGAGGVGKSSLVLRFVKGTFRDTYIPTIEDTYRQVISCDKSVCTLQITDTTGSHQFPAMQRLSISKGHAFILVFSVTSKQSLEELGPIYKLIVQIKGSVEDIPVMLVGNKCDETQREVDTREAQAVAQEWKCAFMETSAKMNYNVKELFQELLTLETRRNMSLNIDGKRSGKQKRTDRVKGKCTLM

opentargets:
plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; signal transduction [GO:0007165]


uniprotID: Q96HU8
geneSymbol: DIRAS2
pdb: 2ERX;
name: GTP-binding protein Di-Ras2 (Distinct subgroup of the Ras family member 2)
length: 199
go: ENSG00000165023;
sequence:
MPEQSNDYRVAVFGAGGVGKSSLVLRFVKGTFRESYIPTVEDTYRQVISCDKSICTLQITDTTGSHQFPAMQRLSISKGHAFILVYSITSRQSLEELKPIYEQICEIKGDVESIPIMLVGNKCDESPSREVQSSEAEALARTWKCAFMETSAKLNHNVKELFQELLNLEKRRTVSLQIDGKKSKQQKRKEKLKGKCVIM

opentargets:
plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; signal transduction [GO:0007165]


uniprotID: O95661
geneSymbol: DIRAS3
length: 229
go: ENSG00000162595;
name:
GTP-binding protein Di-Ras3 (Distinct subgroup of the Ras family member 3) (Rho-related GTP-binding protein RhoI)

sequence:

opentargets:
intracellular [GO:0005622]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of gene expression by genetic imprinting [GO:0006349]; small GTPase mediated signal transduction [GO:0007264]


uniprotID: Q969H9
geneSymbol: DIRC1
name: Disrupted in renal carcinoma protein 1 (Disrupted in renal cancer protein)
length: 104
go: ENSG00000174325;
snps: rs72902678 rs58846152
sequence:
MPEAHMQPAKLQTSLPTTDHGSKKPVSCYLPPLSNAHPMCIEVQNAQNCSSAAATLEPSIISDTCFYKPITKDQLSSRSELNTVRLKCLNSLRGWKILNQLSLT


uniprotID: Q6UY11
geneSymbol: DLK2
name: Protein delta homolog 2 (DLK-2) (Epidermal growth factor-like protein 9) (EGF-like protein 9)
length: 383
go: ENSG00000171462;
snps: rs35192247
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; protein homodimerization activity [GO:0042803]; negative regulation of Notch signaling pathway [GO:0045746]; regulation of fat cell differentiation [GO:0045598]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UY11-1; Sequence=Displayed; Name=2; IsoId=Q6UY11-2; Sequence=VSP_011767; Note=Splicing acceptor site not canonical. No experimental confirmation available.; 


uniprotID: P56177
geneSymbol: DLX1
name: Homeobox protein DLX-1
length: 255
go: ENSG00000144355;
snps: rs17853565
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14671321}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cellular response to BMP stimulus [GO:0071773]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cerebral cortex GABAergic interneuron fate commitment [GO:0021893]; embryonic skeletal system development [GO:0048706]; hippocampus development [GO:0021766]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cellular response to transforming growth factor beta stimulus [GO:1903845]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of photoreceptor cell differentiation [GO:0046533]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of amacrine cell differentiation [GO:1902871]; positive regulation of cell differentiation [GO:0045597]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment [GO:0021882]; subpallium development [GO:0021544]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56177-1; Sequence=Displayed; Name=2; IsoId=P56177-2; Sequence=VSP_043589; Note=No experimental confirmation available.; 


uniprotID: Q07687
geneSymbol: DLX2
name: Homeobox protein DLX-2
length: 328
go: ENSG00000115844;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; 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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; single-stranded RNA binding [GO:0003727]; brain development [GO:0007420]; branching morphogenesis of a nerve [GO:0048755]; cartilage development [GO:0051216]; cerebral cortex GABAergic interneuron fate commitment [GO:0021893]; embryonic cranial skeleton morphogenesis [GO:0048701]; hippocampus development [GO:0021766]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of photoreceptor cell differentiation [GO:0046533]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis of dentin-containing tooth [GO:0042475]; olfactory bulb development [GO:0021772]; positive regulation of amacrine cell differentiation [GO:1902871]; positive regulation of cell differentiation [GO:0045597]; proximal/distal pattern formation [GO:0009954]; regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment [GO:0021882]; subpallium development [GO:0021544]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07687-1; Sequence=Displayed; Name=2; IsoId=Q07687-2; Sequence=VSP_054287, VSP_054288; Note=No experimental confirmation available.; 


uniprotID: O60479
geneSymbol: DLX3
pdb: 4XRS;
name: Homeobox protein DLX-3
length: 287
go: ENSG00000064195;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; blood vessel development [GO:0001568]; odontoblast differentiation [GO:0071895]; odontogenesis of dentin-containing tooth [GO:0042475]; placenta development [GO:0001890]


uniprotID: Q96MA1
geneSymbol: DMRTB1
name: Doublesex- and mab-3-related transcription factor B1
length: 342
go: ENSG00000143006;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; sequence-specific DNA binding [GO:0043565]


uniprotID: Q9UGM3
geneSymbol: DMBT1
reactome: R-HSA-5683826;
length: 2413
go: ENSG00000187908;
name:
Deleted in malignant brain tumors 1 protein (Glycoprotein 340) (Gp-340) (Hensin) (Salivary agglutinin) (SAG) (Surfactant pulmonary-associated D-binding protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of membrane [GO:0019898]; phagocytic vesicle membrane [GO:0030670]; zymogen granule membrane [GO:0042589]; calcium-dependent protein binding [GO:0048306]; DNA binding [GO:0003677]; heparan sulfate binding [GO:1904399]; lipopolysaccharide binding [GO:0001530]; lipoteichoic acid binding [GO:0070891]; pattern recognition receptor activity [GO:0038187]; scavenger receptor activity [GO:0005044]; signaling pattern recognition receptor activity [GO:0008329]; zymogen binding [GO:0035375]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular protein metabolic process [GO:0044267]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; defense response to virus [GO:0051607]; epithelial cell differentiation [GO:0030855]; induction of bacterial agglutination [GO:0043152]; innate immune response [GO:0045087]; multicellular organism development [GO:0007275]; protein transport [GO:0015031]; receptor-mediated endocytosis [GO:0006898]; viral process [GO:0016032]

snps:
rs11523871 rs75209396 rs3013236 rs185045706 rs200664624 rs1969620 rs141757453 rs104894156 rs200713568 rs189478437 rs989419742 rs2277237 rs2277238 rs199704744 rs144450471 rs2277244 rs200551848 rs566926424 rs149099696 rs761527369 rs189221852 rs7099177 rs183135544 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=More isoforms may exist.; Name=1; Synonyms=DMBT1/8kb.2; IsoId=Q9UGM3-1; Sequence=Displayed; Name=2; Synonyms=DMBT1/6kb.1; IsoId=Q9UGM3-2; Sequence=VSP_016846, VSP_016849; Name=3; Synonyms=DMBT1/8kb.1; IsoId=Q9UGM3-3; Sequence=VSP_016847; Name=4; IsoId=Q9UGM3-4; Sequence=VSP_016848; Note=No experimental confirmation available.; Name=6; IsoId=Q9UGM3-6; Sequence=VSP_034656; Name=7; IsoId=Q9UGM3-7; Sequence=VSP_016847, VSP_034656; Name=8; IsoId=Q9UGM3-8; Sequence=VSP_034653, VSP_034654, VSP_034655; Name=5; IsoId=Q9UGM3-5; Sequence=VSP_016850; Note=No experimental confirmation available.; Name=9; IsoId=Q9UGM3-9; Sequence=VSP_053979, VSP_053980, VSP_053981; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Note=Some isoforms may be membrane-bound. Localized to the lumenal aspect of crypt cells in the small intestine. In the colon, seen in the lumenal aspect of surface epithelial cells. Formed in the ducts of von Ebner gland, and released into the fluid bathing the taste buds contained in the taste papillae (By similarity). {ECO:0000250}.


uniprotID: Q8TDJ6
geneSymbol: DMXL2
name: DmX-like protein 2 (Rabconnectin-3)
length: 3036
go: ENSG00000104093;
snps: rs35097381 rs17524906 rs16953073 rs12102203 rs35349640 rs149028181
sequence:

opentargets:
cell junction [GO:0030054]; extracellular space [GO:0005615]; RAVE complex [GO:0043291]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; Rab GTPase binding [GO:0017137]; vacuolar acidification [GO:0007035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TDJ6-1; Sequence=Displayed; Name=2; IsoId=Q8TDJ6-2; Sequence=VSP_043015; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDJ6-3; Sequence=VSP_044977; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:11809763}; Peripheral membrane protein {ECO:0000269|PubMed:11809763}. Note=The external layer of the inferior boundary for the hypothalamus part of the human brain (the so called median eminence (ME)) displayed a punctate pattern of expression; expression also observed in the cell bodies lining the third ventricle, in the long processes extending from these cell bodies toward the external layer of the ME, in small clear vesicles, and in large dense core vesicles. {ECO:0000250|UniProtKB:Q8BPN8}.


uniprotID: O95925
geneSymbol: EPPIN
reactome: R-HSA-6803157;
length: 133
go: ENSG00000101448;ENSG00000249139;
snps: rs2231838 rs2231839
name:
Eppin (Cancer/testis antigen 71) (CT71) (Epididymal protease inhibitor) (Protease inhibitor WAP7) (Serine protease inhibitor-like with Kunitz and WAP domains 1) (WAP four-disulfide core domain protein 7)

sequence:
MGSSGLLSLLVLFVLLANVQGPGLTDWLFPRRCPKIREECEFQERDVCTKDRQCQDNKKCCVFSCGKKCLDLKQDVCEMPKETGPCLAYFLHWWYDKKDNTCSMFVYGGCQGNNNNFQSKANCLNTCKNKRFP

opentargets:
cell surface [GO:0009986]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; sperm plasma membrane [GO:0097524]; serine-type endopeptidase inhibitor activity [GO:0004867]; antimicrobial humoral response [GO:0019730]; defense response to bacterium [GO:0042742]; negative regulation of calcium ion import [GO:0090281]; negative regulation of flagellated sperm motility [GO:1901318]; negative regulation of peptidase activity [GO:0010466]; protein complex oligomerization [GO:0051259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95925-1; Sequence=Displayed; Name=2; Synonyms=Eppin-2; IsoId=O95925-2; Sequence=VSP_006755; Note=Lacks a cleavable signal sequence.; Name=3; IsoId=O95925-3; Sequence=VSP_043679; Note=Based on a readthrough transcript which may produce a EPPIN-WFDC6 fusion protein. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted. Cell surface. Note=Bound to the surface of testicular and on the head and tail of ejaculate spermatozoa.


uniprotID: Q9NQ60
geneSymbol: EQTN
name: Equatorin (Acrosome formation-associated factor)
length: 294
go: ENSG00000120160;
snps: rs12337286 rs12341576 rs41305329
sequence:

opentargets:
acrosomal membrane [GO:0002080]; inner acrosomal membrane [GO:0002079]; integral component of membrane [GO:0016021]; outer acrosomal membrane [GO:0002081]; plasma membrane [GO:0005886]; acrosomal vesicle exocytosis [GO:0060478]; endocytosis [GO:0006897]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQ60-1; Sequence=Displayed; Name=2; IsoId=Q9NQ60-2; Sequence=VSP_025109, VSP_025110; Name=3; IsoId=Q9NQ60-3; Sequence=VSP_042157; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome outer membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=In the anterior acrosome region, enriched on the inner acrosomal membrane but minimal on the outer acrosomal membrane; in contrast in the posterior acrosome region enriched on both the inner and outer acrosomal membranes. {ECO:0000250}.


uniprotID: Q9NZ08
geneSymbol: ERAP1
reactome: R-HSA-983170;
pdb: 2YD0;3MDJ;3QNF;3RJO;5J5E;
length: 941
go: ENSG00000164307;
snps: rs3734016 rs26653 rs26618 rs27895 rs2287987 rs30187 rs6863093 rs10050860 rs17482078 rs27044
name:
Endoplasmic reticulum aminopeptidase 1 (EC 3.4.11.-) (ARTS-1) (Adipocyte-derived leucine aminopeptidase) (A-LAP) (Aminopeptidase PILS) (Puromycin-insensitive leucyl-specific aminopeptidase) (PILS-AP) (Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; aminopeptidase activity [GO:0004177]; endopeptidase activity [GO:0004175]; interleukin-1, type II receptor binding [GO:0005151]; interleukin-6 receptor binding [GO:0005138]; metalloaminopeptidase activity [GO:0070006]; metalloexopeptidase activity [GO:0008235]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; adaptive immune response [GO:0002250]; angiogenesis [GO:0001525]; antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:0019885]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; fat cell differentiation [GO:0045444]; membrane protein ectodomain proteolysis [GO:0006509]; peptide catabolic process [GO:0043171]; positive regulation of angiogenesis [GO:0045766]; proteolysis [GO:0006508]; regulation of blood pressure [GO:0008217]; regulation of innate immune response [GO:0045088]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZ08-1; Sequence=Displayed; Name=2; IsoId=Q9NZ08-2; Sequence=VSP_005450; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:15908954}; Single-pass type II membrane protein {ECO:0000305|PubMed:15908954}.


uniprotID: Q6P179
geneSymbol: ERAP2
reactome: R-HSA-983170;
pdb: 3SE6;4E36;4JBS;5AB0;5AB2;5CU5;5J6S;5K1V;
length: 960
go: ENSG00000164308;
snps: rs3733905 rs2549782 rs34261036 rs17408150
name:
Endoplasmic reticulum aminopeptidase 2 (EC 3.4.11.-) (Leukocyte-derived arginine aminopeptidase) (L-RAP)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; aminopeptidase activity [GO:0004177]; endopeptidase activity [GO:0004175]; metalloaminopeptidase activity [GO:0070006]; metallopeptidase activity [GO:0008237]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; adaptive immune response [GO:0002250]; antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:0019885]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]; regulation of blood pressure [GO:0008217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6P179-1; Sequence=Displayed; Name=2; IsoId=Q6P179-2; Sequence=VSP_030674, VSP_030675; Name=3; IsoId=Q6P179-3; Sequence=VSP_030671; Note=No experimental confirmation available.; Name=4; IsoId=Q6P179-4; Sequence=VSP_030672, VSP_030673; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12799365}; Single-pass type II membrane protein {ECO:0000269|PubMed:12799365}.


uniprotID: Q2PZI1
geneSymbol: DPY19L1
length: 675
go: ENSG00000173852;
snps: rs1637696
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable C-mannosyltransferase DPY19L1 (EC 2.4.1.-) (Dpy-19-like protein 1) (Protein dpy-19 homolog 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; mannosyltransferase activity [GO:0000030]; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan [GO:0018406]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2PZI1-1; Sequence=Displayed; Name=2; IsoId=Q2PZI1-2; Sequence=VSP_029628; 


uniprotID: Q8NEP3
geneSymbol: DNAAF1
name: Dynein assembly factor 1, axonemal (Leucine-rich repeat-containing protein 50)
length: 725
go: ENSG00000154099;
sequence:

opentargets:
axoneme [GO:0005930]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; spindle pole [GO:0000922]; dynein complex binding [GO:0070840]; axonemal dynein complex assembly [GO:0070286]; cilium assembly [GO:0060271]; cilium movement [GO:0003341]; determination of digestive tract left/right asymmetry [GO:0071907]; determination of liver left/right asymmetry [GO:0071910]; determination of pancreatic left/right asymmetry [GO:0035469]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; heart looping [GO:0001947]; inner dynein arm assembly [GO:0036159]; left/right pattern formation [GO:0060972]; lung development [GO:0030324]; motile cilium assembly [GO:0044458]; outer dynein arm assembly [GO:0036158]; regulation of cilium beat frequency [GO:0003356]

snps:
rs267607227 rs36062234 rs17856705 rs9972733 rs11644164 rs17856706 rs2288020 rs2288022 rs2288021 rs2288023 rs4150188 rs4150187 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEP3-1; Sequence=Displayed; Name=2; IsoId=Q8NEP3-2; Sequence=VSP_036354, VSP_036355; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEP3-3; Sequence=VSP_036356; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:18385425}. Cytoplasm {ECO:0000269|PubMed:18385425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:18385425}. Note=In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.


uniprotID: Q6QHC5
geneSymbol: DEGS2
reactome: R-HSA-1660661;
length: 323
go: ENSG00000168350;
snps: rs7157599 rs4905937
name:
Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 (EC 1.14.18.5) (EC 1.14.19.17) (Degenerative spermatocyte homolog 2) (Sphingolipid 4-desaturase) (Sphingolipid C4-monooxygenase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; sphingolipid delta-4 desaturase activity [GO:0042284]; sphingosine hydroxylase activity [GO:0000170]; ceramide biosynthetic process [GO:0046513]; sphinganine metabolic process [GO:0006667]; sphingolipid biosynthetic process [GO:0030148]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8R2F2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8R2F2}.


uniprotID: P35659
geneSymbol: DEK
reactome: R-HSA-5250924;R-HSA-8864260;
pdb: 1Q1V;2JX3;
name: Protein DEK
length: 375
go: ENSG00000124795;
snps: rs17336208
sequence:

opentargets:
contractile fiber [GO:0043292]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone binding [GO:0042393]; RNA binding [GO:0003723]; chromatin organization [GO:0006325]; positive regulation of gene expression, epigenetic [GO:0045815]; regulation of double-strand break repair [GO:2000779]; regulation of double-strand break repair via nonhomologous end joining [GO:2001032]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]; viral genome replication [GO:0019079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35659-1; Sequence=Displayed; Name=2; IsoId=P35659-2; Sequence=VSP_042951; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17524367, ECO:0000269|PubMed:19695025}. Note=Enriched in regions where chromatin is decondensed or sparse in the interphase nuclei.


uniprotID: Q6P3S1
geneSymbol: DENND1B
reactome: R-HSA-8876198;
pdb: 3TW8;
name: DENN domain-containing protein 1B (Connecdenn 2) (Protein FAM31B)
length: 775
go: ENSG00000213047;
snps: rs7546381
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; phosphatidylinositol phosphate binding [GO:1901981]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; endocytic recycling [GO:0032456]; endocytosis [GO:0006897]; positive regulation of GTPase activity [GO:0043547]; protein transport [GO:0015031]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]; T-helper 2 cell cytokine production [GO:0035745]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=5; IsoId=Q6P3S1-1; Sequence=Displayed; Name=2; IsoId=Q6P3S1-2; Sequence=VSP_028083, VSP_034515; Name=3; IsoId=Q6P3S1-3; Sequence=VSP_028083, VSP_028084, VSP_028085; Note=No experimental confirmation available.; Name=4; IsoId=Q6P3S1-4; Sequence=VSP_028082, VSP_028083, VSP_034515; Note=No experimental confirmation available.; Name=1; Synonyms=DENND1B-S; IsoId=Q6P3S1-5; Sequence=VSP_034515; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20154091}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:20154091}.


uniprotID: Q8IV53
geneSymbol: DENND1C
reactome: R-HSA-8876198;
name: DENN domain-containing protein 1C (Connecdenn 3) (Protein FAM31C)
length: 801
go: ENSG00000205744;
snps: rs10416003 rs35001260 rs35810378
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; phosphatidylinositol phosphate binding [GO:1901981]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; endocytic recycling [GO:0032456]; endocytosis [GO:0006897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV53-1; Sequence=Displayed; Name=2; IsoId=Q8IV53-2; Sequence=VSP_040669; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20154091}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:20154091}.


uniprotID: Q68D51
geneSymbol: DENND2C
reactome: R-HSA-8876198;
name: DENN domain-containing protein 2C
length: 928
go: ENSG00000175984;
opentargets: Rab guanyl-nucleotide exchange factor activity [GO:0017112]
snps: rs7541738 rs12136548
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q68D51-1; Sequence=Displayed; Name=2; IsoId=Q68D51-2; Sequence=VSP_019468; Note=No experimental confirmation available.; Name=3; IsoId=Q68D51-3; Sequence=VSP_036782; 


uniprotID: Q9H6A0
geneSymbol: DENND2D
reactome: R-HSA-8876198;
name: DENN domain-containing protein 2D
length: 471
go: ENSG00000162777;
snps: rs35742969
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23182661}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6A0-1; Sequence=Displayed; Name=2; IsoId=Q9H6A0-2; Sequence=VSP_019471; 


uniprotID: O75064
geneSymbol: DENND4B
reactome: R-HSA-8876198;
name: DENN domain-containing protein 4B
length: 1496
go: ENSG00000198837;
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:20937701}.
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; regulation of Rab protein signal transduction [GO:0032483]


uniprotID: Q5VZ89
geneSymbol: DENND4C
reactome: R-HSA-8876198;
name: DENN domain-containing protein 4C
length: 1909
go: ENSG00000137145;
snps: rs34267952 rs17818730 rs6475322
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; insulin-responsive compartment [GO:0032593]; plasma membrane [GO:0005886]; retromer complex [GO:0030904]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; cellular response to insulin stimulus [GO:0032869]; protein localization to plasma membrane [GO:0072659]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5VZ89-1; Sequence=Displayed; Name=3; IsoId=Q5VZ89-3; Sequence=VSP_027384, VSP_027386; Name=5; IsoId=Q5VZ89-5; Sequence=VSP_027382, VSP_027383; Name=2; IsoId=Q5VZ89-7; Sequence=VSP_027379; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane. Cell membrane. Cytoplasm, cytosol. Note=Associates with SLC2A4/GLUT4 storage vesicles.


uniprotID: Q8IWF6
geneSymbol: DENND6A
reactome: R-HSA-8876198;
name: Protein DENND6A (DENN domain-containing protein 6A)
length: 608
go: ENSG00000174839;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; recycling endosome [GO:0055037]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; positive regulation of cell-cell adhesion mediated by cadherin [GO:2000049]

location:
SUBCELLULAR LOCATION: Recycling endosome {ECO:0000269|PubMed:22595670}. Cytoplasm {ECO:0000269|PubMed:22595670}.


uniprotID: Q8NEG7
geneSymbol: DENND6B
reactome: R-HSA-8876198;
name: Protein DENND6B (DENN domain-containing protein 6B)
length: 585
go: ENSG00000205593;
location: SUBCELLULAR LOCATION: Recycling endosome {ECO:0000305}. Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; recycling endosome [GO:0055037]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]


uniprotID: A2RUS2
geneSymbol: DENND3
reactome: R-HSA-8876198;
name: DENN domain-containing protein 3
length: 1198
go: ENSG00000105339;
snps: rs307761 rs11997191
sequence:

opentargets:
cytosol [GO:0005829]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; cellular protein catabolic process [GO:0044257]; endosome to lysosome transport [GO:0008333]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A2RUS2-1; Sequence=Displayed; Name=2; IsoId=A2RUS2-2; Sequence=VSP_028080; Note=No experimental confirmation available.; Name=3; IsoId=A2RUS2-3; Sequence=VSP_028075, VSP_028081; Note=No experimental confirmation available.; Name=4; IsoId=A2RUS2-4; Sequence=VSP_028077, VSP_028078; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2RT67}. Note=Transiently recruited to membranes to activate RAB12. {ECO:0000250|UniProtKB:A2RT67}.


uniprotID: Q8WUY9
geneSymbol: DEPDC1B
reactome: R-HSA-194840;
length: 529
go: ENSG00000035499;
snps: rs17856590 rs17851707
name:
DEP domain-containing protein 1B (HBV X-transactivated gene 8 protein) (HBV XAg-transactivated protein 8)

sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; cell migration [GO:0016477]; intracellular signal transduction [GO:0035556]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUY9-1; Sequence=Displayed; Name=2; IsoId=Q8WUY9-2; Sequence=VSP_042922; Note=No experimental confirmation available.; 


uniprotID: Q8N2C3
geneSymbol: DEPDC4
name: DEP domain-containing protein 4
length: 294
go: ENSG00000166153;
opentargets: intracellular [GO:0005622]; intracellular signal transduction [GO:0035556]
snps: rs7307415
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N2C3-1; Sequence=Displayed; Name=2; IsoId=Q8N2C3-2; Sequence=VSP_024646, VSP_024647; Note=No experimental confirmation available.; 


uniprotID: Q96QD5
geneSymbol: DEPDC7
reactome: R-HSA-194840;
name: DEP domain-containing protein 7 (Protein TR2/D15)
length: 511
go: ENSG00000121690;
snps: rs34161108 rs17852859
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; intracellular signal transduction [GO:0035556]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QD5-1; Sequence=Displayed; Name=2; IsoId=Q96QD5-2; Sequence=VSP_047180; 


uniprotID: Q9NTK1
geneSymbol: DEPP1
name: Protein DEPP1 (Decidual protein induced by progesterone) (Fasting-induced gene protein) (FIG)
length: 212
go: ENSG00000165507;
snps: rs11555140
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; autophagy [GO:0006914]; regulation of autophagy [GO:0010506]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24530860, ECO:0000269|PubMed:25261981}. Peroxisome {ECO:0000269|PubMed:25261981}. Mitochondrion {ECO:0000269|PubMed:25261981}. Note=May localize to aggresomes (PubMed:24530860). {ECO:0000269|PubMed:24530860}.


uniprotID: Q9BUN8
geneSymbol: DERL1
reactome: R-HSA-382556;R-HSA-532668;R-HSA-5678895;R-HSA-8866654;
pdb: 5GLF;
name: Derlin-1 (Degradation in endoplasmic reticulum protein 1) (DERtrin-1) (Der1-like protein 1)
length: 251
go: ENSG00000136986;
snps: rs2272722
sequence:

opentargets:
Derlin-1 retrotranslocation complex [GO:0036513]; Derlin-1-VIMP complex [GO:0036502]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; membrane [GO:0016020]; ATPase binding [GO:0051117]; MHC class I protein binding [GO:0042288]; protease binding [GO:0002020]; signaling receptor activity [GO:0038023]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-specific protease binding [GO:1990381]; endoplasmic reticulum unfolded protein response [GO:0030968]; ER-associated misfolded protein catabolic process [GO:0071712]; ERAD pathway [GO:0036503]; establishment of protein localization [GO:0045184]; positive regulation of protein binding [GO:0032092]; positive regulation of protein ubiquitination [GO:0031398]; protein destabilization [GO:0031648]; protein folding [GO:0006457]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; response to unfolded protein [GO:0006986]; retrograde protein transport, ER to cytosol [GO:0030970]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUN8-1; Sequence=Displayed; Name=2; IsoId=Q9BUN8-2; Sequence=VSP_041329; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:15215856, ECO:0000269|PubMed:16186509, ECO:0000269|PubMed:16449189}; Multi-pass membrane protein {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:15215856, ECO:0000269|PubMed:16186509, ECO:0000269|PubMed:16449189}.


uniprotID: Q7Z5P4
geneSymbol: HSD17B13
reactome: R-HSA-8964572;
length: 300
go: ENSG00000170509;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
17-beta-hydroxysteroid dehydrogenase 13 (17-beta-HSD 13) (EC 1.1.-.-) (Short chain dehydrogenase/reductase family 16C member 3) (Short-chain dehydrogenase/reductase 9)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; lipid droplet [GO:0005811]; steroid dehydrogenase activity [GO:0016229]; lipid droplet organization [GO:0034389]; positive regulation of lipid biosynthetic process [GO:0046889]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q7Z5P4-1; Sequence=Displayed; Name=1; IsoId=Q7Z5P4-2; Sequence=VSP_015860; 


uniprotID: Q86SQ9
geneSymbol: DHDDS
reactome: R-HSA-446199;R-HSA-4755609;
length: 333
go: ENSG00000117682;
snps: rs147394623 rs3816539
name:
Dehydrodolichyl diphosphate synthase complex subunit DHDDS (EC 2.5.1.87) (Cis-isoprenyltransferase) (CIT) (Cis-IPTase) (Cis-prenyltransferase subunit hCIT) (Epididymis tissue protein Li 189m)

sequence:

opentargets:
dehydrodolichyl diphosphate synthase complex [GO:1904423]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; dehydrodolichyl diphosphate synthase activity [GO:0045547]; polyprenyltransferase activity [GO:0002094]; dolichyl diphosphate biosynthetic process [GO:0006489]; polyprenol biosynthetic process [GO:0016094]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86SQ9-1; Sequence=Displayed; Name=2; IsoId=Q86SQ9-2; Sequence=VSP_010031; Name=3; IsoId=Q86SQ9-3; Sequence=VSP_010030; Note=May be due to exon skipping.; Name=4; IsoId=Q86SQ9-4; Sequence=VSP_045007; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14652022}; Peripheral membrane protein {ECO:0000269|PubMed:14652022}. Note=colocalizes with calnexin.


uniprotID: P00367
geneSymbol: GLUD1
reactome: R-HSA-2151201;R-HSA-70614;
pdb: 1L1F;1NR1;6DQG;
name: Glutamate dehydrogenase 1, mitochondrial (GDH 1) (EC 1.4.1.3)
length: 558
go: ENSG00000148672;
drug: DB04137;DB00756;DB00142;DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; glutamate dehydrogenase (NAD+) activity [GO:0004352]; glutamate dehydrogenase [NAD(P)+] activity [GO:0004353]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; leucine binding [GO:0070728]; NAD+ binding [GO:0070403]; cellular amino acid biosynthetic process [GO:0008652]; glutamate biosynthetic process [GO:0006537]; glutamate catabolic process [GO:0006538]; glutamine metabolic process [GO:0006541]; positive regulation of insulin secretion [GO:0032024]; substantia nigra development [GO:0021762]; tricarboxylic acid metabolic process [GO:0072350]

snps:
rs56275071 rs121909736 rs121909737 rs121909735 rs121909731 rs121909734 rs121909733 rs121909732 rs121909730 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P00367-1; Sequence=Displayed; Name=2; IsoId=P00367-2; Sequence=VSP_056244; Note=No experimental confirmation available.; Name=3; IsoId=P00367-3; Sequence=VSP_056523, VSP_056524; Note=No experimental confirmation available.; 


uniprotID: P80365
geneSymbol: HSD11B2
reactome: R-HSA-194002;
length: 405
go: ENSG00000176387;
drug: DB01569;DB00157;
name:
Corticosteroid 11-beta-dehydrogenase isozyme 2 (EC 1.1.1.-) (11-beta-hydroxysteroid dehydrogenase type 2) (11-DH2) (11-beta-HSD2) (11-beta-hydroxysteroid dehydrogenase type II) (11-HSD type II) (11-beta-HSD type II) (NAD-dependent 11-beta-hydroxysteroid dehydrogenase) (11-beta-HSD) (Short chain dehydrogenase/reductase family 9C member 3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity [GO:0003845]; NAD binding [GO:0051287]; steroid binding [GO:0005496]; female pregnancy [GO:0007565]; glucocorticoid biosynthetic process [GO:0006704]; regulation of blood volume by renal aldosterone [GO:0002017]; response to drug [GO:0042493]; response to food [GO:0032094]; response to glucocorticoid [GO:0051384]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]

snps:
rs13306425 rs768507002 rs121917780 rs28934592 rs28934591 rs121917833 rs121917782 rs28934594 rs1453036708 rs121917781 rs387907117 

location:
SUBCELLULAR LOCATION: Microsome {ECO:0000269|PubMed:17314322}. Endoplasmic reticulum {ECO:0000269|PubMed:17314322}.


uniprotID: P09417
geneSymbol: QDPR
reactome: R-HSA-71182;
pdb: 1HDR;
length: 244
go: ENSG00000151552;
drug: DB03814;DB00157;
name:
Dihydropteridine reductase (EC 1.5.1.34) (HDHPR) (Quinoid dihydropteridine reductase) (Short chain dehydrogenase/reductase family 33C member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; neuron projection [GO:0043005]; 6,7-dihydropteridine reductase activity [GO:0004155]; electron transfer activity [GO:0009055]; NADH binding [GO:0070404]; NADPH binding [GO:0070402]; protein homodimerization activity [GO:0042803]; cellular amino acid metabolic process [GO:0006520]; cellular response to drug [GO:0035690]; dihydrobiopterin metabolic process [GO:0051066]; L-phenylalanine catabolic process [GO:0006559]; liver development [GO:0001889]; response to aluminum ion [GO:0010044]; response to glucagon [GO:0033762]; response to lead ion [GO:0010288]; tetrahydrobiopterin biosynthetic process [GO:0006729]

snps:
rs756639609 rs757483045 rs104893863 rs104893865 rs104893864 rs1028029163 rs104893866 rs750201480 rs769460415 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09417-1; Sequence=Displayed; Name=2; IsoId=P09417-2; Sequence=VSP_054356; Note=No experimental confirmation available.; 


uniprotID: A0PJE2
geneSymbol: DHRS12
length: 317
go: ENSG00000102796;
opentargets: oxidoreductase activity [GO:0016491]
name:
Dehydrogenase/reductase SDR family member 12 (EC 1.1.-.-) (Short-chain dehydrogenase/reductase family 40C member 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A0PJE2-1; Sequence=Displayed; Name=2; IsoId=A0PJE2-2; Sequence=VSP_029724, VSP_029726, VSP_029727; Name=3; IsoId=A0PJE2-3; Sequence=VSP_029724, VSP_029725; 


uniprotID: Q13268
geneSymbol: DHRS2
length: 280
go: ENSG00000100867;
snps: rs148991912
name:
Dehydrogenase/reductase SDR family member 2, mitochondrial (EC 1.1.1.-) (Dicarbonyl reductase HEP27) (Protein D) (Short chain dehydrogenase/reductase family 25C member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; carbonyl reductase (NADPH) activity [GO:0004090]; C21-steroid hormone metabolic process [GO:0008207]; cellular response to oxidative stress [GO:0034599]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; oxidation-reduction process [GO:0055114]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13268-1; Sequence=Displayed; Name=2; IsoId=Q13268-2; Sequence=VSP_038179; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix. Nucleus. Note=A minor fraction of the protein is translocated from the mitochondria to the nucleus, after cleavage of the targeting signal.


uniprotID: Q14562
geneSymbol: DHX8
pdb: 2EQS;3I4U;5MQF;5XJC;
name: ATP-dependent RNA helicase DHX8 (EC 3.6.4.13) (DEAH box protein 8) (RNA helicase HRH1)
length: 1220
go: ENSG00000067596;
snps: rs34285079
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; ATP-dependent RNA helicase activity [GO:0004004]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]; spliceosomal complex disassembly [GO:0000390]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.


uniprotID: Q8IYB7
geneSymbol: DIS3L2
name: DIS3-like exonuclease 2 (hDIS3L2) (EC 3.1.13.-)
length: 885
go: ENSG00000144535;
snps: rs723044 rs186865544 rs387907116 rs200386096
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24141620}. Cytoplasm, P-body.
sequence:

opentargets:
cytoplasm [GO:0005737]; exosome (RNase complex) [GO:0000178]; P-body [GO:0000932]; polysome [GO:0005844]; 3'-5'-exoribonuclease activity [GO:0000175]; magnesium ion binding [GO:0000287]; poly(U) RNA binding [GO:0008266]; ribonuclease activity [GO:0004540]; cell division [GO:0051301]; miRNA catabolic process [GO:0010587]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid separation [GO:0051306]; negative regulation of cell proliferation [GO:0008285]; nuclear-transcribed mRNA catabolic process, exonucleolytic [GO:0000291]; nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' [GO:0034427]; polyuridylation-dependent mRNA catabolic process [GO:1990074]; RNA catabolic process [GO:0006401]; rRNA processing [GO:0006364]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IYB7-1; Sequence=Displayed; Name=2; IsoId=Q8IYB7-2; Sequence=VSP_030376, VSP_030378; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q8IYB7-3; Sequence=VSP_030375, VSP_030377; 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=Q8IYB7-4; Sequence=VSP_030372, VSP_030373; Name=5; IsoId=Q8IYB7-5; Sequence=VSP_030371, VSP_030374; Note=No experimental confirmation available.; 


uniprotID: Q68CQ4
geneSymbol: DIEXF
reactome: R-HSA-6790901;R-HSA-6791226;
name: Digestive organ expansion factor homolog
length: 756
go: ENSG00000117597;
snps: rs585627
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, nucleolus {ECO:0000269|PubMed:22002106}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; U3 snoRNA binding [GO:0034511]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; multicellular organism development [GO:0007275]; positive regulation of embryonic development [GO:0040019]; protein catabolic process [GO:0030163]; protein destabilization [GO:0031648]; rRNA processing [GO:0006364]


uniprotID: Q9H6R0
geneSymbol: DHX33
name: ATP-dependent RNA helicase DHX33 (EC 3.6.4.13) (DEAH box protein 33)
length: 707
go: ENSG00000005100;
snps: rs8069315 rs11653658
sequence:

opentargets:
cytoplasm [GO:0005737]; NLRP3 inflammasome complex [GO:0072559]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; double-stranded RNA binding [GO:0003725]; mRNA binding [GO:0003729]; rDNA binding [GO:0000182]; ribosomal large subunit binding [GO:0043023]; RNA binding [GO:0003723]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NLRP3 inflammasome complex assembly [GO:1900227]; positive regulation of transcription by RNA polymerase I [GO:0045943]; positive regulation of type I interferon production [GO:0032481]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6R0-1; Sequence=Displayed; Name=2; IsoId=Q9H6R0-2; Sequence=VSP_016256; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:21930779, ECO:0000269|PubMed:26100019}. Nucleus, nucleoplasm {ECO:0000269|PubMed:21930779}. Cytoplasm {ECO:0000269|PubMed:23871209, ECO:0000269|PubMed:26100019}. Nucleus {ECO:0000269|PubMed:23871209}. Inflammasome {ECO:0000269|PubMed:23871209}. Note=Predominantly in the nucleolus. During mitosis, localizes with the nucleolar organizing regions (PubMed:21930779). Upon dsRNA-binding, localizes in the inflammasome (PubMed:23871209). {ECO:0000269|PubMed:21930779, ECO:0000269|PubMed:23871209}.


uniprotID: Q9UBX3
geneSymbol: SLC25A10
reactome: R-HSA-1614517;R-HSA-428643;R-HSA-70263;
name: Mitochondrial dicarboxylate carrier (Solute carrier family 25 member 10)
length: 287
go: ENSG00000183048;
drug: DB00139;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; antiporter activity [GO:0015297]; dicarboxylic acid transmembrane transporter activity [GO:0005310]; malate transmembrane transporter activity [GO:0015140]; oxaloacetate transmembrane transporter activity [GO:0015131]; succinate transmembrane transporter activity [GO:0015141]; sulfate transmembrane transporter activity [GO:0015116]; thiosulfate transmembrane transporter activity [GO:0015117]; dicarboxylic acid transport [GO:0006835]; gluconeogenesis [GO:0006094]; ion transport [GO:0006811]; malate transmembrane transport [GO:0071423]; mitochondrial transport [GO:0006839]; oxaloacetate transport [GO:0015729]; phosphate ion transmembrane transport [GO:0035435]; succinate transmembrane transport [GO:0071422]; sulfate transport [GO:0008272]; sulfide oxidation, using sulfide:quinone oxidoreductase [GO:0070221]; thiosulfate transport [GO:0015709]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBX3-1; Sequence=Displayed; Name=2; IsoId=Q9UBX3-2; Sequence=VSP_003267; Note=No experimental confirmation available.; 


uniprotID: Q155Q3
geneSymbol: DIXDC1
pdb: 3PZ7;
name: Dixin (Coiled-coil protein DIX1) (Coiled-coil-DIX1) (DIX domain-containing protein 1)
length: 683
go: ENSG00000150764;
snps: rs34575249
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; actin binding [GO:0003779]; gamma-tubulin binding [GO:0043015]; protein domain specific binding [GO:0019904]; canonical Wnt signaling pathway [GO:0060070]; cerebral cortex radially oriented cell migration [GO:0021799]; forebrain ventricular zone progenitor cell division [GO:0021869]; negative regulation of neuron differentiation [GO:0045665]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of microtubule cytoskeleton organization [GO:0070507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=l-DIXDC1; IsoId=Q155Q3-1; Sequence=Displayed; Note=Major isoform. Ubiquitously expressed.; Name=2; Synonyms=s-DIXDC1; IsoId=Q155Q3-2; Sequence=VSP_025378, VSP_025379; Note=Major isoform. Preferentially expressed in cardiac and skeletal muscles.; Name=3; IsoId=Q155Q3-4; Sequence=VSP_025380, VSP_025381; Note=No experimental confirmation available.; Name=4; IsoId=Q155Q3-5; Sequence=VSP_054565, VSP_025380, VSP_025381; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000269|PubMed:16814745}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:16814745}. Cytoplasm {ECO:0000269|PubMed:20085589}. Note=Colocalizes with gamma-tubulin at the centrosome, both during interphase and mitosis (PubMed:19375513). Associated with actin stress fiber at the filament ends (PubMed:16814745). {ECO:0000269|PubMed:16814745, ECO:0000269|PubMed:19375513}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:16814745}. Note=Not associated with stress fibers. {ECO:0000269|PubMed:16814745}.


uniprotID: Q9UBC2
geneSymbol: EPS15L1
reactome: R-HSA-182971;R-HSA-8856825;R-HSA-8856828;
name: Epidermal growth factor receptor substrate 15-like 1 (Eps15-related protein) (Eps15R)
length: 864
go: ENSG00000127527;
sequence:

opentargets:
clathrin coat of coated pit [GO:0030132]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UBC2-1; Sequence=Displayed; Name=2; IsoId=Q9UBC2-2; Sequence=VSP_042200; Name=3; IsoId=Q9UBC2-3; Sequence=VSP_045429; Name=4; IsoId=Q9UBC2-4; Sequence=VSP_046904, VSP_046905; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Membrane, coated pit {ECO:0000250}. Note=Localized to plasma membrane coated pits. {ECO:0000250}.


uniprotID: B3EWF7
geneSymbol: EPM2A
name: Laforin, isoform 9
length: 344
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22036712}.
sequence:

opentargets:
nucleus [GO:0005634]; negative regulation of TOR signaling [GO:0032007]; positive regulation of macroautophagy [GO:0016239]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=8;  Name=9 {ECO:0000269|PubMed:22036712}; Synonyms=POCR {ECO:0000305}; IsoId=B3EWF7-1; Sequence=Displayed; Note=Produced by alternative initiation. Arises due to the use of an alternative initiation codon in exon 1 out of frame with isoform 1 and results in a completely different isoform. {ECO:0000269|PubMed:22036712}; Name=1 {ECO:0000305}; Synonyms=A {ECO:0000305}, LDH1 {ECO:0000305}, Laf331 {ECO:0000305}; IsoId=O95278-1; Sequence=External; Name=2 {ECO:0000305}; Synonyms=B {ECO:0000305}, C-terISO {ECO:0000305}, Laf317 {ECO:0000305}; IsoId=O95278-2; Sequence=External; Note=Produced by alternative splicing. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:22036712}; Synonyms=Laf152 {ECO:0000305}; IsoId=O95278-4; Sequence=External; Note=Produced by alternative splicing. May be due to an intron retention. {ECO:0000269|PubMed:22036712}; Name=5 {ECO:0000269|PubMed:22036712}; Synonyms=Laf224 {ECO:0000305}; IsoId=O95278-5; Sequence=External; Note=Produced by alternative splicing. {ECO:0000269|PubMed:22036712}; Name=6 {ECO:0000269|PubMed:22036712}; Synonyms=Laf88 {ECO:0000305}; IsoId=O95278-6; Sequence=External; Note=Produced by alternative initiation at Met-244 of isoform 1. Transcript amplified but protein not detected. {ECO:0000269|PubMed:22036712}; Name=7 {ECO:0000269|PubMed:22036712}; Synonyms=Laf177 {ECO:0000305}; IsoId=O95278-7; Sequence=External; Note=Produced by alternative splicing. Active phosphatase. {ECO:0000269|PubMed:22036712}; Name=8 {ECO:0000305}; IsoId=O95278-8; Sequence=External; Note=Produced by alternative splicing. No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q09472
geneSymbol: EP300
length: 2414
go: ENSG00000100393;
snps: rs2230111 rs20551 rs5758252 rs28937578 rs1046088
reactome:
R-HSA-1234158;R-HSA-1368082;R-HSA-156711;R-HSA-1912408;R-HSA-1989781;R-HSA-201722;R-HSA-210744;R-HSA-2122947;R-HSA-2197563;R-HSA-2644606;R-HSA-2894862;R-HSA-3134973;R-HSA-3214847;R-HSA-3371568;R-HSA-381340;R-HSA-3899300;R-HSA-400253;R-HSA-5250924;R-HSA-5617472;R-HSA-5621575;R-HSA-5689901;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6804114;R-HSA-6804758;R-HSA-6804760;R-HSA-6811555;R-HSA-8866907;R-HSA-8936459;R-HSA-8939243;R-HSA-8941856;R-HSA-8941858;R-HSA-8951936;R-HSA-9013508;R-HSA-9013695;R-HSA-9018519;R-HSA-918233;R-HSA-933541;

pdb:
1L3E;1P4Q;2K8F;2MH0;2MZD;3BIY;3I3J;3IO2;3P57;3T92;4BHW;4PZR;4PZS;4PZT;5BT3;5KJ2;5LKT;5LKU;5LKX;5LKZ;5LPK;5LPM;5NU5;6DS6;6FGN;6FGS;

name:
Histone acetyltransferase p300 (p300 HAT) (EC 2.3.1.48) (E1A-associated protein p300) (Histone butyryltransferase p300) (EC 2.3.1.-) (Histone crotonyltransferase p300) (EC 2.3.1.-) (Protein propionyltransferase p300) (EC 2.3.1.-)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; acetyltransferase activity [GO:0016407]; activating transcription factor binding [GO:0033613]; androgen receptor binding [GO:0050681]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; histone acetyltransferase activity [GO:0004402]; histone butyryltransferase activity [GO:0140069]; histone crotonyltransferase activity [GO:0140068]; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor [GO:0004468]; nuclear hormone receptor binding [GO:0035257]; p53 binding [GO:0002039]; peptide butyryltransferase activity [GO:0140065]; peptide N-acetyltransferase activity [GO:0034212]; peptide-lysine-N-acetyltransferase activity [GO:0061733]; pre-mRNA intronic binding [GO:0097157]; protein C-terminus binding [GO:0008022]; protein propionyltransferase activity [GO:0061920]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; STAT family protein binding [GO:0097677]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transferase activity, transferring acyl groups [GO:0016746]; zinc ion binding [GO:0008270]; animal organ morphogenesis [GO:0009887]; apoptotic process [GO:0006915]; B cell differentiation [GO:0030183]; beta-catenin-TCF complex assembly [GO:1904837]; cellular response to UV [GO:0034644]; circadian rhythm [GO:0007623]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; fat cell differentiation [GO:0045444]; heart development [GO:0007507]; histone acetylation [GO:0016573]; histone H2B acetylation [GO:0043969]; histone H4 acetylation [GO:0043967]; internal peptidyl-lysine acetylation [GO:0018393]; internal protein amino acid acetylation [GO:0006475]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; lung development [GO:0030324]; macrophage derived foam cell differentiation [GO:0010742]; megakaryocyte development [GO:0035855]; N-terminal peptidyl-lysine acetylation [GO:0018076]; negative regulation of protein oligomerization [GO:0032460]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]; Notch signaling pathway [GO:0007219]; peptidyl-lysine acetylation [GO:0018394]; peptidyl-lysine butyrylation [GO:0140067]; peptidyl-lysine crotonylation [GO:0140066]; peptidyl-lysine propionylation [GO:0061921]; platelet formation [GO:0030220]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of neuron projection development [GO:0010976]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response [GO:0006990]; positive regulation of transcription of Notch receptor target [GO:0007221]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; positive regulation of type I interferon production [GO:0032481]; protein acetylation [GO:0006473]; protein destabilization [GO:0031648]; protein stabilization [GO:0050821]; regulation of androgen receptor signaling pathway [GO:0060765]; regulation of autophagy [GO:0010506]; regulation of cell cycle [GO:0051726]; regulation of cellular response to heat [GO:1900034]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; regulation of transcription, DNA-templated [GO:0006355]; regulation of tubulin deacetylation [GO:0090043]; response to estrogen [GO:0043627]; response to hypoxia [GO:0001666]; skeletal muscle tissue development [GO:0007519]; somitogenesis [GO:0001756]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; transcription-coupled nucleotide-excision repair [GO:0006283]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12929931}. Nucleus {ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:16574662}. Chromosome {ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:25818647}. Note=Localizes to active chromatin: Colocalizes with histone H3 acetylated and/or crotonylated at 'Lys-18' (H3K18ac and H3K18cr, respectively) (PubMed:25818647). In the presence of ALX1 relocalizes from the cytoplasm to the nucleus. Colocalizes with ROCK2 in the nucleus (PubMed:12929931). {ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:25818647}.


uniprotID: O60832
geneSymbol: DKC1
reactome: R-HSA-171319;R-HSA-6790901;
length: 514
go: ENSG00000130826;
name:
H/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99.-) (CBF5 homolog) (Dyskerin) (Nopp140-associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1)

sequence:

opentargets:
box H/ACA scaRNP complex [GO:0072589]; box H/ACA snoRNP complex [GO:0031429]; box H/ACA telomerase RNP complex [GO:0090661]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; box H/ACA snoRNA binding [GO:0034513]; pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; telomerase activity [GO:0003720]; telomerase RNA binding [GO:0070034]; box H/ACA snoRNA 3'-end processing [GO:0000495]; cell proliferation [GO:0008283]; enzyme-directed rRNA pseudouridine synthesis [GO:0000455]; mRNA pseudouridine synthesis [GO:1990481]; positive regulation of establishment of protein localization to telomere [GO:1904851]; positive regulation of protein localization to Cajal body [GO:1904871]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; positive regulation of telomere maintenance via telomerase [GO:0032212]; regulation of telomerase RNA localization to Cajal body [GO:1904872]; RNA processing [GO:0006396]; rRNA processing [GO:0006364]; rRNA pseudouridine synthesis [GO:0031118]; scaRNA localization to Cajal body [GO:0090666]; snRNA pseudouridine synthesis [GO:0031120]; telomerase RNA stabilization [GO:0090669]; telomere maintenance via telomerase [GO:0007004]

snps:
rs121912303 rs121912293 rs28936072 rs121912296 rs121912292 rs121912302 rs121912304 rs121912287 rs121912301 rs121912297 rs121912306 rs121912294 rs121912305 rs2728533 rs121912290 rs2728726 rs121912291 rs121912298 rs121912300 rs121912288 rs121912295 rs121912299 rs121912289 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60832-1; Sequence=Displayed; Name=3; IsoId=O60832-2; Sequence=VSP_042422; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus {ECO:0000269|PubMed:10556300, ECO:0000269|PubMed:10591218, ECO:0000269|PubMed:12429849}. Nucleus, Cajal body {ECO:0000250|UniProtKB:P40615}. Note=Also localized to Cajal bodies (coiled bodies). {ECO:0000250|UniProtKB:P40615}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:21820037}.


uniprotID: Q9NX36
geneSymbol: DNAJC28
name: DnaJ homolog subfamily C member 28
length: 388
go: ENSG00000177692;
sequence:

opentargets:
Golgi transport complex [GO:0017119]; Golgi organization [GO:0007030]; Golgi vesicle prefusion complex stabilization [GO:0048213]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]


uniprotID: A6NDY0
geneSymbol: PABPN1L
length: 278
go: ENSG00000205022;
opentargets: cytoplasm [GO:0005737]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Embryonic polyadenylate-binding protein 2 (Embryonic poly(A)-binding protein 2) (ePABP-2) (ePABP2) (Embryonic poly(A)-binding protein type II) (Poly(A)-binding protein nuclear-like 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A6NDY0-1; Sequence=Displayed; Name=2; IsoId=A6NDY0-2; Sequence=VSP_035213, VSP_035214; Note=No experimental confirmation available.; Name=4; IsoId=A6NDY0-4; Sequence=VSP_040501; Note=No experimental confirmation available.; Name=3; IsoId=A6NDY0-3; Sequence=VSP_035211, VSP_035212; Note=No experimental confirmation available.; 


uniprotID: Q9NVH1
geneSymbol: DNAJC11
reactome: R-HSA-8949613;
name: DnaJ homolog subfamily C member 11
length: 559
go: ENSG00000007923;
snps: rs12137794 rs200454 rs200454
sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; cristae formation [GO:0042407]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist. {ECO:0000305|PubMed:25111180}; Name=1; IsoId=Q9NVH1-1; Sequence=Displayed; Name=2; IsoId=Q9NVH1-2; Sequence=VSP_019933; Name=3; IsoId=Q9NVH1-3; Sequence=VSP_019932; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:25997101}. Note=Isoforms show differential submitochondrial localization. A 57 kDa form (potentially isoform 3) shows either mitochondrial matrix or innermembrane (IM) localization, possibly anchored to the IM facing the matrix. A 35 kDa form behaved either as an inner membrane space (IMS) or an IM protein exposed to the IMS. {ECO:0000269|PubMed:25111180}.; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion outer membrane {ECO:0000269|PubMed:25111180}; Peripheral membrane protein {ECO:0000269|PubMed:25111180}.


uniprotID: O94907
geneSymbol: DKK1
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-5339717;
pdb: 3S2K;3S8V;3SOQ;5FWW;5GJE;
name: Dickkopf-related protein 1 (Dickkopf-1) (Dkk-1) (hDkk-1) (SK)
length: 266
go: ENSG00000107984;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
early endosome membrane [GO:0031901]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; co-receptor binding [GO:0039706]; growth factor activity [GO:0008083]; low-density lipoprotein particle receptor binding [GO:0050750]; receptor antagonist activity [GO:0048019]; cell morphogenesis involved in differentiation [GO:0000904]; embryonic limb morphogenesis [GO:0030326]; endoderm formation [GO:0001706]; face morphogenesis [GO:0060325]; forebrain development [GO:0030900]; hair follicle development [GO:0001942]; learning or memory [GO:0007611]; limb development [GO:0060173]; mesoderm formation [GO:0001707]; modulation of age-related behavioral decline [GO:0090647]; motor learning [GO:0061743]; negative regulation of apoptotic process [GO:0043066]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment [GO:1901296]; negative regulation of cardiac muscle cell differentiation [GO:2000726]; negative regulation of mesodermal cell fate specification [GO:0042662]; negative regulation of ossification [GO:0030279]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of protein binding [GO:0032091]; negative regulation of skeletal muscle tissue development [GO:0048642]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of Wnt signaling pathway [GO:0030178]; negative regulation of Wnt-Frizzled-LRP5/6 complex assembly [GO:1904723]; positive regulation of cell death [GO:0010942]; positive regulation of gene expression [GO:0010628]; positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway [GO:0090082]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of midbrain dopaminergic neuron differentiation [GO:1904958]; positive regulation of neuron death [GO:1901216]; positive regulation of tau-protein kinase activity [GO:1902949]; positive regulation of Wnt signaling pathway, calcium modulating pathway [GO:0045813]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]; regulation of dopaminergic neuron differentiation [GO:1904338]; regulation of endodermal cell fate specification [GO:0042663]; regulation of receptor internalization [GO:0002090]; regulation of synapse organization [GO:0050807]; regulation of synaptic transmission, glutamatergic [GO:0051966]; response to retinoic acid [GO:0032526]; synapse pruning [GO:0098883]; Wnt signaling pathway involved in somitogenesis [GO:0090244]


uniprotID: Q9UBU2
geneSymbol: DKK2
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-5339717;
name: Dickkopf-related protein 2 (Dickkopf-2) (Dkk-2) (hDkk-2)
length: 259
go: ENSG00000155011;
snps: rs17037102
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; co-receptor binding [GO:0039706]; receptor antagonist activity [GO:0048019]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9UBP4
geneSymbol: DKK3
name: Dickkopf-related protein 3 (Dickkopf-3) (Dkk-3) (hDkk-3)
length: 350
go: ENSG00000050165;
snps: rs11544816 rs3206824
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; co-receptor binding [GO:0039706]; receptor antagonist activity [GO:0048019]; adrenal gland development [GO:0030325]; anatomical structure morphogenesis [GO:0009653]; negative regulation of aldosterone biosynthetic process [GO:0032348]; negative regulation of anti-Mullerian hormone signaling pathway [GO:1902613]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cortisol biosynthetic process [GO:2000065]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; Wnt signaling pathway [GO:0016055]


uniprotID: Q7Z7J5
geneSymbol: DPPA2
length: 298
go: ENSG00000163530;
opentargets: nucleus [GO:0005634]
snps: rs9809030
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15583978}.
name:
Developmental pluripotency-associated protein 2 (Pluripotent embryonic stem cell-related gene 1 protein)

sequence:


uniprotID: Q9C005
geneSymbol: DPY30
reactome: R-HSA-3214841;R-HSA-8936459;
pdb: 3G36;4RIQ;4RT4;4RTA;6E2H;
name: Protein dpy-30 homolog (Dpy-30-like protein) (Dpy-30L)
sequence: MEPEQMLEGQTQVAENPHSEYGLTDNVERIVENEKINAEKSSKQKVDLQSLPTRAYLDQTVVPILLQGLAVLAKERPPNPIEFLASYLLKNKAQFEDRN
length: 99
go: ENSG00000162961;
opentargets:
Golgi apparatus [GO:0005794]; histone methyltransferase complex [GO:0035097]; MLL3/4 complex [GO:0044666]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Set1C/COMPASS complex [GO:0048188]; trans-Golgi network [GO:0005802]; histone-lysine N-methyltransferase activity [GO:0018024]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; endosomal transport [GO:0016197]; histone H3-K4 methylation [GO:0051568]; regulation of megakaryocyte differentiation [GO:0045652]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19651892}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:19651892}. Note=Associated with chromatin at regions enriched in histone H3 trimethylated at 'Lys-4. Highly enriched in gene promoter regions and 5' UTRs, but not in downstream regions of genes or 3' UTRs (By similarity). {ECO:0000250}.


uniprotID: Q8NEX9
geneSymbol: SDR9C7
reactome: R-HSA-2453902;
length: 313
go: ENSG00000170426;
snps: rs530109812 rs770729222
name:
Short-chain dehydrogenase/reductase family 9C member 7 (EC 1.1.1.-) (Orphan short-chain dehydrogenase/reductase) (SDR-O) (RDH-S)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; retinol dehydrogenase activity [GO:0004745]; oxidation-reduction process [GO:0055114]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19703561}. Note=Granular distribution in the whole cell.


uniprotID: Q6PGQ1
geneSymbol: DRICH1
name: Aspartate-rich protein 1
length: 229
go: ENSG00000189269;
snps: rs3827318
sequence:


uniprotID: O95995
geneSymbol: GAS8
reactome: R-HSA-5635838;
length: 478
go: ENSG00000141013;
snps: rs868044 rs17178299 rs147993982
name:
Dynein regulatory complex subunit 4 (Growth arrest-specific protein 11) (GAS-11) (Growth arrest-specific protein 8) (GAS-8)

sequence:

opentargets:
axoneme [GO:0005930]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; motile cilium [GO:0031514]; sperm flagellum [GO:0036126]; microtubule binding [GO:0008017]; Rab GTPase binding [GO:0017137]; axoneme assembly [GO:0035082]; brain development [GO:0007420]; cellular protein localization [GO:0034613]; cilium movement involved in cell motility [GO:0060294]; determination of left/right symmetry [GO:0007368]; epithelial cilium movement [GO:0003351]; flagellated sperm motility [GO:0030317]; negative regulation of cell proliferation [GO:0008285]; positive regulation of protein localization to cilium [GO:1903566]; positive regulation of smoothened signaling pathway [GO:0045880]; regulation of microtubule binding [GO:1904526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95995-1; Sequence=Displayed; Name=2; IsoId=O95995-2; Sequence=VSP_054805; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q60779}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10969087}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q60779}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:16643277, ECO:0000269|PubMed:26387594}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q60779}. Golgi apparatus {ECO:0000269|PubMed:16643277}. Cell projection, cilium {ECO:0000269|PubMed:27120127}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q7XJ96}. Note=Associates with microtubules (PubMed:10969087). Localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen, and in the flagellum of epididymal spermatozoa (By similarity). {ECO:0000250|UniProtKB:Q60779, ECO:0000269|PubMed:10969087}.


uniprotID: Q96DY2
geneSymbol: IQCD
name: Dynein regulatory complex protein 10 (IQ domain-containing protein D)
length: 449
go: ENSG00000166578;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]
snps: rs7966313
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8J0N6}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96DY2-1; Sequence=Displayed; Name=2; IsoId=Q96DY2-2; Sequence=VSP_024178; Note=No experimental confirmation available.; Name=3; IsoId=Q96DY2-3; Sequence=VSP_024179, VSP_024180; Note=No experimental confirmation available.; 


uniprotID: Q86XH1
geneSymbol: IQCA1
name: Dynein regulatory complex protein 11 (IQ and AAA domain-containing protein 1)
length: 822
go: ENSG00000132321;
snps: rs35114730 rs3754644 rs10204742
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8IHT2}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]; ATP binding [GO:0005524]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86XH1-1; Sequence=Displayed; Name=2; IsoId=Q86XH1-2; Sequence=VSP_024327, VSP_024330, VSP_024331; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q86XH1-5; Sequence=VSP_047012; 


uniprotID: Q96MC2
geneSymbol: DRC1
name: Dynein regulatory complex protein 1 (Coiled-coil domain-containing protein 164)
length: 740
go: ENSG00000157856;
snps: rs3795958 rs939820 rs12623642 rs3172008 rs35313480
sequence:

opentargets:
axoneme [GO:0005930]; motile cilium [GO:0031514]; axonemal dynein complex assembly [GO:0070286]; cilium-dependent cell motility [GO:0060285]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; regulation of cilium movement [GO:0003352]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:P0DL09}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:P0DL09}.


uniprotID: Q8N5C7
geneSymbol: DTWD1
name: DTW domain-containing protein 1
length: 304
go: ENSG00000104047;
snps: rs11539522 rs11539519 rs11539521
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N5C7-1; Sequence=Displayed; Name=2; IsoId=Q8N5C7-2; Sequence=VSP_028922; Note=No experimental confirmation available.; Name=3; IsoId=Q8N5C7-3; Sequence=VSP_028923; Note=No experimental confirmation available.; 


uniprotID: Q6UX65
geneSymbol: DRAM2
name: DNA damage-regulated autophagy modulator protein 2 (Transmembrane protein 77)
length: 266
go: ENSG00000156171;
snps: rs786205662 rs786205665 rs786205664
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; photoreceptor inner segment [GO:0001917]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; photoreceptor cell maintenance [GO:0045494]; regulation of autophagy [GO:0010506]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:19556885, ECO:0000269|PubMed:19895784}; Multi-pass membrane protein {ECO:0000269|PubMed:19556885, ECO:0000269|PubMed:19895784}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q9CR48}. Apical cell membrane {ECO:0000250|UniProtKB:Q9CR48}. Note=Localized to photoreceptor inner segments and to the apical surface of retinal pigment epithelial cells. {ECO:0000250|UniProtKB:Q9CR48}.


uniprotID: P79483
geneSymbol: HLA-DRB3
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 2Q6W;3C5J;4H1L;
name: HLA class II histocompatibility antigen, DR beta 3 chain (MHC class II antigen DRB3)
length: 266
sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; 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]; late endosome membrane [GO:0031902]; 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]; 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]; interferon-gamma-mediated signaling pathway [GO:0060333]; signal transduction [GO:0007165]; T cell receptor signaling pathway [GO:0050852]

snps:
rs1071747 rs1071748 rs1136752 rs200581589 rs147440497 rs202185589 rs142793258 rs138849995 rs707956 rs200042906 rs200042906 rs1059580 rs774894415 rs79606458 rs144532965 rs144532965 rs41541218 rs696318 rs696318 rs17878857 rs1059598 rs115817940 rs1136778 rs41556512 rs75709987 rs139485758 rs142204283 rs147669022 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Lysosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Late endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. 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: P13762
geneSymbol: HLA-DRB4
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
name: HLA class II histocompatibility antigen, DR beta 4 chain (MHC class II antigen DRB4)
length: 266
go: ENSG00000227357;
sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; 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]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]

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. Late endosome 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: Q8NBI3
geneSymbol: DRAXIN
pdb: 6FKQ;
name: Draxin (Dorsal inhibitory axon guidance protein) (Dorsal repulsive axon guidance protein) (Neucrin)
length: 349
go: ENSG00000162490;
snps: rs11121804
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; axon guidance [GO:0007411]; commissural neuron differentiation in spinal cord [GO:0021528]; dorsal spinal cord development [GO:0021516]; forebrain development [GO:0030900]; negative regulation of axon extension [GO:0030517]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of neuron apoptotic process [GO:0043524]; Wnt signaling pathway [GO:0016055]


uniprotID: Q8IY82
geneSymbol: DRC7
length: 874
go: ENSG00000159625;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]
snps: rs55645458 rs11649000 rs7196016 rs58373934 rs3809611 rs17853687 rs2923144 rs2923147
name:
Dynein regulatory complex subunit 7 (Coiled-coil domain-containing protein 135) (Coiled-coil domain-containing protein lobo homolog)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IY82-1; Sequence=Displayed; Name=2; IsoId=Q8IY82-2; Sequence=VSP_023438; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8JAM0}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8JAM0}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8JAM0}. Note=Associated with the outer doublet microtubules (OD). {ECO:0000250|UniProtKB:A8JAM0}.


uniprotID: Q99956
geneSymbol: DUSP9
reactome: R-HSA-112409;R-HSA-5675221;
pdb: 2HXP;3LJ8;
length: 384
go: ENSG00000130829;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Dual specificity protein phosphatase 9 (EC 3.1.3.16) (EC 3.1.3.48) (Mitogen-activated protein kinase phosphatase 4) (MAP kinase phosphatase 4) (MKP-4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; phosphoprotein phosphatase activity [GO:0004721]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; activation of MAPK activity [GO:0000187]; inactivation of MAPK activity [GO:0000188]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; protein dephosphorylation [GO:0006470]


uniprotID: Q5JU00
geneSymbol: TCTE1
name: Dynein regulatory complex subunit 5 (T-complex-associated testis-expressed protein 1) (Tcte-1)
length: 501
go: ENSG00000146221;
snps: rs324146 rs17853373 rs2297336
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; sperm flagellum [GO:0036126]; flagellated sperm motility [GO:0030317]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A6H639}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8HMZ4}. Note=Detected along the length of the sperm flagellum. {ECO:0000250|UniProtKB:A6H639}.


uniprotID: Q5VUJ9
geneSymbol: EFCAB2
name: Dynein regulatory complex protein 8 (EF-hand calcium-binding domain-containing protein 2)
length: 269
go: ENSG00000203666;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8J3A0}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]; calcium ion binding [GO:0005509]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VUJ9-1; Sequence=Displayed; Name=2; IsoId=Q5VUJ9-2; Sequence=VSP_021055, VSP_021056, VSP_021057; Note=No experimental confirmation available.; Name=3; IsoId=Q5VUJ9-3; Sequence=VSP_043273, VSP_043274; Note=No experimental confirmation available.; 


uniprotID: Q30154
geneSymbol: HLA-DRB5
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 1FV1;1H15;1HQR;1ZGL;
length: 266
go: ENSG00000198502;
name:
HLA class II histocompatibility antigen, DR beta 5 chain (DR beta-5) (DR2-beta-2) (Dw2) (MHC class II antigen DRB5)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; 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]; 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]; T cell receptor signaling pathway [GO:0050852]

snps:
rs1064587 rs701884 rs17211043 rs1141741 rs1136744 rs200581589 rs202185589 rs41546317 rs1059576 rs707956 rs707956 rs1059580 rs41541218 rs696318 rs696318 rs41559913 rs41545413 rs41547217 rs41547217 rs41551116 rs41544215 rs1059598 rs115817940 rs1136778 rs41556512 rs113395425 rs1059633 rs41559420 rs41553512 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173, ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173, ECO:0000305}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173, ECO:0000305}. Endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173, ECO:0000305}. Lysosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173, ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173, ECO:0000305}. 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: Q9UNI6
geneSymbol: DUSP12
pdb: 4JNB;4KI9;
length: 340
go: ENSG00000081721;
snps: rs35106830
name:
Dual specificity protein phosphatase 12 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity tyrosine phosphatase YVH1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; kinase binding [GO:0019900]; nucleic acid binding [GO:0003676]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; zinc ion binding [GO:0008270]; cellular protein modification process [GO:0006464]; dephosphorylation [GO:0016311]; positive regulation of glucokinase activity [GO:0033133]; protein dephosphorylation [GO:0006470]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10446167}. Cytoplasm, cytosol {ECO:0000269|PubMed:10446167}. Note=Primarily nuclear. Detected in a mesh-like pattern in the cytosol. {ECO:0000269|PubMed:10446167}.


uniprotID: Q9P2D7
geneSymbol: DNAH1
length: 4265
snps: rs10460963 rs13060192 rs17052095 rs17052097 rs56002041 rs365048
name:
Dynein heavy chain 1, axonemal (Axonemal beta dynein heavy chain 1) (Ciliary dynein heavy chain 1) (Heat shock regulated protein 1) (HSRF-1) (hDHC7)

sequence:

opentargets:
axonemal dynein complex [GO:0005858]; axoneme [GO:0005930]; dynein complex [GO:0030286]; inner dynein arm [GO:0036156]; microtubule [GO:0005874]; sperm flagellum [GO:0036126]; 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 involved in cell motility [GO:0060294]; cilium-dependent cell motility [GO:0060285]; epithelial cilium movement [GO:0003351]; flagellated sperm motility [GO:0030317]; inner dynein arm assembly [GO:0036159]; microtubule-based movement [GO:0007018]; sperm axoneme assembly [GO:0007288]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q9P2D7-4; Sequence=Displayed; Note=No experimental confirmation available.; Name=3; IsoId=Q9P2D7-3; Sequence=VSP_031305, VSP_031306; Note=No experimental confirmation available.; Name=6; IsoId=Q9P2D7-6; Sequence=VSP_059797, VSP_059798; Note=No experimental confirmation available.; Name=7; IsoId=Q9P2D7-8; Sequence=VSP_059799, VSP_059800; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:24360805}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:E9Q8T7}.


uniprotID: Q08554
geneSymbol: DSC1
reactome: R-HSA-6798695;R-HSA-6805567;R-HSA-6809371;
pdb: 5IRY;
name: Desmocollin-1 (Cadherin family member 1) (Desmosomal glycoprotein 2/3) (DG2/DG3)
length: 894
go: ENSG00000134765;
snps: rs35338395 rs17800159 rs985861
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.
sequence:

opentargets:
cornified envelope [GO:0001533]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; gap junction [GO:0005921]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 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]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1A; Synonyms=DG2; IsoId=Q08554-1; Sequence=Displayed; Name=1B; Synonyms=DG3; IsoId=Q08554-2; Sequence=VSP_000651, VSP_000652; 


uniprotID: Q8NEJ0
geneSymbol: DUSP18
pdb: 2ESB;
length: 188
go: ENSG00000167065;
name:
Dual specificity protein phosphatase 18 (EC 3.1.3.16) (EC 3.1.3.48) (Low molecular weight dual specificity phosphatase 20) (LMW-DSP20)

sequence:
MTAPSCAFPVQFRQPSVSGLSQITKSLYISNGVAANNKLMLSSNQITMVINVSVEVVNTLYEDIQYMQVPVADSPNSRLCDFFDPIADHIHSVEMKQGRTLLHCAAGVSRSAALCLAYLMKYHAMSLLDAHTWTKSCRPIIRPNSGFWEQLIHYEFQLFGKNTVHMVSSPVGMIPDIYEKEVRLMIPL

opentargets:
cytoplasm [GO:0005737]; mitochondrial inner membrane [GO:0005743]; 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]; dephosphorylation [GO:0016311]; peptidyl-threonine dephosphorylation [GO:0035970]; peptidyl-tyrosine dephosphorylation [GO:0035335]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12408986}. Nucleus {ECO:0000269|PubMed:12408986}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q8VE01}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8VE01}; Intermembrane side {ECO:0000250|UniProtKB:Q8VE01}. Note=Translocates to cytoplasm in response to apoptotic stimuli such as staurosporine treatment. {ECO:0000250|UniProtKB:Q8VE01}.


uniprotID: Q7RTS9
geneSymbol: DYM
name: Dymeclin (Dyggve-Melchior-Clausen syndrome protein)
length: 669
go: ENSG00000141627;
snps: rs120074164 rs120074163 rs120074165
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; enzyme binding [GO:0019899]; bone development [GO:0060348]; Golgi organization [GO:0007030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7RTS9-1; Sequence=Displayed; Name=2; IsoId=Q7RTS9-2; Sequence=VSP_036442, VSP_036443; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.


uniprotID: P59020
geneSymbol: DSCR9
name: Down syndrome critical region protein 9
length: 149
snps: rs1888464 rs13864
sequence:
MGRICPVNSRARRLRARPGRPSGDSLPYHQLQGGAPRLWSPDPGRPAAYRRAHVCDVTAPRWGSTSRQGEGAVLQRMLGRRAPPSWSRDHAYSRRGWENAALFLNRKRKQEGTENTSICCRPESALACGGNLSPQFLKKVIQIQTQELW


uniprotID: O95147
geneSymbol: DUSP14
pdb: 2WGP;
length: 198
go: ENSG00000276023;
name:
Dual specificity protein phosphatase 14 (EC 3.1.3.16) (EC 3.1.3.48) (MKP-1-like protein tyrosine phosphatase) (MKP-L) (Mitogen-activated protein kinase phosphatase 6) (MAP kinase phosphatase 6) (MKP-6)

sequence:
MSSRGHSTLPRTLMAPRMISEGDIGGIAQITSSLFLGRGSVASNRHLLQARGITCIVNATIEIPNFNWPQFEYVKVPLADMPHAPIGLYFDTVADKIHSVSRKHGATLVHCAAGVSRSATLCIAYLMKFHNVCLLEAYNWVKARRPVIRPNVGFWRQLIDYERQLFGKSTVKMVQTPYGIVPDVYEKESRHLMPYWGI

opentargets:
MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; protein tyrosine phosphatase activity [GO:0004725]; RNA binding [GO:0003723]


uniprotID: Q9NRD9
geneSymbol: DUOX1
reactome: R-HSA-209968;
length: 1551
go: ENSG00000137857;
snps: rs16939743 rs16939752 rs2458236
name:
Dual oxidase 1 (EC 1.11.1.-) (EC 1.6.3.1) (Large NOX 1) (Long NOX 1) (NADPH thyroid oxidase 1) (Thyroid oxidase 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; 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]; NADP binding [GO:0050661]; peroxidase activity [GO:0004601]; cuticle development [GO:0042335]; cytokine-mediated signaling pathway [GO:0019221]; hormone biosynthetic process [GO:0042446]; hydrogen peroxide biosynthetic process [GO:0050665]; hydrogen peroxide catabolic process [GO:0042744]; oxidation-reduction process [GO:0055114]; response to cAMP [GO:0051591]; response to oxidative stress [GO:0006979]; superoxide anion generation [GO:0042554]; thyroid hormone generation [GO:0006590]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRD9-1; Sequence=Displayed; Name=2; IsoId=Q9NRD9-2; Sequence=VSP_017262, VSP_017263; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:10806195, ECO:0000269|PubMed:15210697}; Multi-pass membrane protein {ECO:0000269|PubMed:10806195, ECO:0000269|PubMed:15210697}. Note=Localizes to the apical membrane of epithelial cells.


uniprotID: O77932
geneSymbol: DXO
name: Decapping and exoribonuclease protein (DXO) (EC 3.1.13.-) (EC 3.6.1.-) (Dom-3 homolog Z)
length: 396
go: ENSG00000204348;
snps: rs1056694 rs2746396 rs17207867 rs12205138
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21750099}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 5'-3' exonuclease activity [GO:0008409]; magnesium ion binding [GO:0000287]; mRNA binding [GO:0003729]; nucleotide binding [GO:0000166]; RNA pyrophosphohydrolase activity [GO:0034353]; mRNA catabolic process [GO:0006402]; nuclear mRNA surveillance [GO:0071028]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; RNA destabilization [GO:0050779]


uniprotID: A6NLW8
geneSymbol: DUXA
name: Double homeobox protein A
length: 204
go: ENSG00000258873;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:


uniprotID: P50570
geneSymbol: DNM2
pdb: 2YS1;
name: Dynamin-2 (EC 3.6.5.5)
length: 870
go: ENSG00000079805;
reactome:
R-HSA-166016;R-HSA-177504;R-HSA-190873;R-HSA-196025;R-HSA-203641;R-HSA-2132295;R-HSA-432720;R-HSA-432722;R-HSA-437239;R-HSA-8856828;

sequence:

opentargets:
axon [GO:0030424]; centrosome [GO:0005813]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated pit [GO:0005905]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; dendritic spine head [GO:0044327]; endocytic vesicle membrane [GO:0030666]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; membrane [GO:0016020]; microtubule [GO:0005874]; midbody [GO:0030496]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; phagocytic cup [GO:0001891]; phagocytic vesicle membrane [GO:0030670]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density, intracellular component [GO:0099092]; postsynaptic endocytic zone membrane [GO:0098844]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; synapse [GO:0045202]; trans-Golgi network [GO:0005802]; D2 dopamine receptor binding [GO:0031749]; enzyme binding [GO:0019899]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; microtubule binding [GO:0008017]; nitric-oxide synthase binding [GO:0050998]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; SH3 domain binding [GO:0017124]; WW domain binding [GO:0050699]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; aorta development [GO:0035904]; cellular response to carbon monoxide [GO:0071245]; cellular response to dopamine [GO:1903351]; cellular response to nitric oxide [GO:0071732]; cellular response to X-ray [GO:0071481]; coronary vasculature development [GO:0060976]; endocytosis [GO:0006897]; G protein-coupled receptor internalization [GO:0002031]; G2/M transition of mitotic cell cycle [GO:0000086]; Golgi to plasma membrane transport [GO:0006893]; macropinocytosis [GO:0044351]; membrane organization [GO:0061024]; negative regulation of membrane tubulation [GO:1903526]; negative regulation of non-motile cilium assembly [GO:1902856]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neuron projection morphogenesis [GO:0048812]; phagocytosis [GO:0006909]; positive regulation of apoptotic process [GO:0043065]; positive regulation of clathrin-dependent endocytosis [GO:2000370]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of phagocytosis [GO:0050766]; positive regulation of sodium:potassium-exchanging ATPase activity [GO:1903408]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of transcription, DNA-templated [GO:0045893]; postsynaptic neurotransmitter receptor internalization [GO:0098884]; receptor internalization [GO:0031623]; receptor-mediated endocytosis [GO:0006898]; regulation of axon extension [GO:0030516]; regulation of Golgi organization [GO:1903358]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of Rac protein signal transduction [GO:0035020]; regulation of synapse structure or activity [GO:0050803]; regulation of transcription, DNA-templated [GO:0006355]; response to cocaine [GO:0042220]; response to light stimulus [GO:0009416]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]; synaptic vesicle budding from presynaptic endocytic zone membrane [GO:0016185]; synaptic vesicle transport [GO:0048489]; transferrin transport [GO:0033572]; ventricular septum development [GO:0003281]

snps:
rs3745674 rs267606772 rs121909092 rs121909089 rs121909090 rs397514735 rs121909091 rs587783595 rs587783596 rs121909093 rs879254086 rs121909088 rs121909094 rs121909095 rs121909095 rs587783597 rs587783598 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P50570-1; Sequence=Displayed; Name=2; IsoId=P50570-2; Sequence=VSP_001325; Name=3; IsoId=P50570-3; Sequence=VSP_044280, VSP_001325; Name=4; IsoId=P50570-4; Sequence=VSP_044280; Note=Gene prediction based on EST data.; Name=5; IsoId=P50570-5; Sequence=VSP_047534; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cell junction {ECO:0000250|UniProtKB:P39052}. Membrane, clathrin-coated pit {ECO:0000250|UniProtKB:P39052}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Midbody. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:P39054}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:P39054}; Peripheral membrane protein {ECO:0000250|UniProtKB:P39054}. Note=Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. Co-localizes with PIK3C3 and RAB5A to the nascent phagosome (By similarity). {ECO:0000250|UniProtKB:P39052, ECO:0000250|UniProtKB:P39054}.


uniprotID: Q9H8V3
geneSymbol: ECT2
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 3L46;4N40;
name: Protein ECT2 (Epithelial cell-transforming sequence 2 oncogene)
length: 914
go: ENSG00000114346;
snps: rs34703432
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; centralspindlin complex [GO:0097149]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein homodimerization activity [GO:0042803]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; activation of GTPase activity [GO:0090630]; activation of protein kinase activity [GO:0032147]; bicellular tight junction assembly [GO:0070830]; cell morphogenesis [GO:0000902]; cellular response to calcium ion [GO:0071277]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to ionizing radiation [GO:0071479]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; mitotic cytokinesis [GO:0000281]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cytokinesis [GO:0032467]; positive regulation of GTPase activity [GO:0043547]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of protein import into nucleus [GO:0042307]; protein homooligomerization [GO:0051260]; protein transport [GO:0015031]; regulation of attachment of spindle microtubules to kinetochore [GO:0051988]; regulation of cytokinesis, actomyosin contractile ring assembly [GO:2000431]; regulation of protein kinase activity [GO:0045859]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H8V3-1; Sequence=Displayed; Name=2; IsoId=Q9H8V3-2; Sequence=VSP_041976, VSP_041977; Name=3; IsoId=Q9H8V3-3; Sequence=VSP_041978; 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=4; IsoId=Q9H8V3-4; Sequence=VSP_041977; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Midbody. Cell junction. Cell junction, tight junction. Note=Sequestered within the nucleus during interphase. Dispersed throughout the cytoplasm upon breakdown of the nuclear envelope during mitosis. Colocalizes with the centralspindlin complex to the mitotic spindles during anaphase/metaphase, the cleavage furrow during telophase and at the midbody at the end of cytokinesis. Colocalized with RhoA at the midbody. Its subcellular localization to tight junction is increased by calcium. Localized predominantly in the cytoplasm of numerous carcinoma cells.


uniprotID: Q96AV8
geneSymbol: E2F7
reactome: R-HSA-6804116;
name: Transcription factor E2F7 (E2F-7)
length: 911
go: ENSG00000165891;
snps: rs310791 rs3829295 rs310831
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15133492}.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; 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]; identical protein binding [GO:0042802]; 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]; chorionic trophoblast cell differentiation [GO:0060718]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; hepatocyte differentiation [GO:0070365]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cytokinesis [GO:0032466]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0071930]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=E2F7b; IsoId=Q96AV8-1; Sequence=Displayed; Name=2; Synonyms=E2F7a; IsoId=Q96AV8-2; Sequence=VSP_027473, VSP_027474; Name=3; IsoId=Q96AV8-3; Sequence=VSP_044617; Note=No experimental confirmation available.; 


uniprotID: Q8NBA8
geneSymbol: DTWD2
name: DTW domain-containing protein 2
length: 298
go: ENSG00000169570;
sequence:


uniprotID: Q05639
geneSymbol: EEF1A2
reactome: R-HSA-156842;
pdb: 3C5J;
length: 463
go: ENSG00000101210;
snps: rs587777162 rs786205866 rs786205865
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Elongation factor 1-alpha 2 (EF-1-alpha-2) (Eukaryotic elongation factor 1 A-2) (eEF1A-2) (Statin-S1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of lysosomal membrane [GO:0098574]; eukaryotic translation elongation factor 1 complex [GO:0005853]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; synapse [GO:0045202]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; translation elongation factor activity [GO:0003746]; translation factor activity, RNA binding [GO:0008135]; positive regulation of apoptotic process [GO:0043065]; positive regulation of lipid kinase activity [GO:0090218]; regulation of chaperone-mediated autophagy [GO:1904714]; response to electrical stimulus [GO:0051602]; response to inorganic substance [GO:0010035]; translation [GO:0006412]; translational elongation [GO:0006414]


uniprotID: Q9Y2J2
geneSymbol: EPB41L3
reactome: R-HSA-6794361;
pdb: 2HE7;3BIN;
length: 1087
go: ENSG00000082397;
snps: rs9966357 rs8082898 rs8096452
name:
Band 4.1-like protein 3 (4.1B) (Differentially expressed in adenocarcinoma of the lung protein 1) (DAL-1) [Cleaved into: Band 4.1-like protein 3, N-terminally processed]

sequence:

opentargets:
axolemma [GO:0030673]; cell-cell junction [GO:0005911]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; juxtaparanode region of axon [GO:0044224]; paranode region of axon [GO:0033270]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; actin binding [GO:0003779]; structural constituent of cytoskeleton [GO:0005200]; actomyosin structure organization [GO:0031032]; apoptotic process [GO:0006915]; cortical actin cytoskeleton organization [GO:0030866]; cortical cytoskeleton organization [GO:0030865]; cytoskeletal anchoring at plasma membrane [GO:0007016]; myelin maintenance [GO:0043217]; neuron projection morphogenesis [GO:0048812]; paranodal junction assembly [GO:0030913]; protein localization to juxtaparanode region of axon [GO:0071205]; protein localization to paranode region of axon [GO:0002175]; protein localization to plasma membrane [GO:0072659]; regulation of cell growth [GO:0001558]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9Y2J2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2J2-2; Sequence=VSP_000482, VSP_000483, VSP_000484, VSP_000485; Name=3; IsoId=Q9Y2J2-3; Sequence=VSP_000482, VSP_000483, VSP_000484, VSP_000485, VSP_000486; Name=4; IsoId=Q9Y2J2-4; Sequence=VSP_000482, VSP_000483, VSP_054819, VSP_054820; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction {ECO:0000269|PubMed:9892180}. Cell membrane {ECO:0000269|PubMed:9892180}; Peripheral membrane protein {ECO:0000269|PubMed:9892180}; Cytoplasmic side {ECO:0000269|PubMed:9892180}. Cytoplasm {ECO:0000269|PubMed:9892180}. Note=Detected in the cytoplasm of actively dividing cells.


uniprotID: Q13115
geneSymbol: DUSP4
reactome: R-HSA-112409;R-HSA-202670;R-HSA-5675221;
pdb: 3EZZ;
length: 394
go: ENSG00000120875;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7535768}.
name:
Dual specificity protein phosphatase 4 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase hVH2) (Mitogen-activated protein kinase phosphatase 2) (MAP kinase phosphatase 2) (MKP-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; MAP kinase serine/threonine phosphatase activity [GO:1990439]; 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]; protein tyrosine/threonine phosphatase activity [GO:0008330]; dephosphorylation [GO:0016311]; inactivation of MAPK activity [GO:0000188]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; peptidyl-threonine dephosphorylation [GO:0035970]; peptidyl-tyrosine dephosphorylation [GO:0035335]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MKP-2-L; IsoId=Q13115-1; Sequence=Displayed; Name=2; Synonyms=MKP-2-S; IsoId=Q13115-2; Sequence=VSP_044667, VSP_044668; Note=Does not bind to JNK or ERK, and is more susceptible to proteosomal degradation.; 


uniprotID: Q92611
geneSymbol: EDEM1
reactome: R-HSA-381038;R-HSA-901032;
name: ER degradation-enhancing alpha-mannosidase-like protein 1
length: 657
go: ENSG00000134109;
sequence:

opentargets:
aggresome [GO:0016235]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum quality control compartment [GO:0044322]; integral component of endoplasmic reticulum membrane [GO:0030176]; calcium ion binding [GO:0005509]; mannosyl-oligosaccharide 1,2-alpha-mannosidase activity [GO:0004571]; misfolded protein binding [GO:0051787]; IRE1-mediated unfolded protein response [GO:0036498]; mannose trimming involved in glycoprotein ERAD pathway [GO:1904382]; positive regulation of retrograde protein transport, ER to cytosol [GO:1904154]; trimming of terminal mannose on C branch [GO:0036510]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent glycoprotein ERAD pathway [GO:0097466]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92611-1; Sequence=Displayed; Name=2; IsoId=Q92611-2; Sequence=VSP_056703, VSP_056704; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19934218}; Single-pass type II membrane protein {ECO:0000269|PubMed:19934218}.


uniprotID: Q9UFH2
geneSymbol: DNAH17
length: 4462
go: ENSG00000187775;
snps: rs34868091 rs16971526 rs11651537 rs691652
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
name:
Dynein heavy chain 17, axonemal (Axonemal beta dynein heavy chain 17) (Axonemal dynein heavy chain-like protein 1) (Ciliary dynein heavy chain 17) (Ciliary dynein heavy chain-like protein 1) (Dynein light chain 2, axonemal)

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-dependent cell motility [GO:0060285]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UFH2-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on partial mRNA data. {ECO:0000305}; Name=4; IsoId=Q9UFH2-4; Sequence=VSP_032109, VSP_032110, VSP_032111; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9NR20
geneSymbol: DYRK4
name: Dual specificity tyrosine-phosphorylation-regulated kinase 4 (EC 2.7.12.1)
length: 520
go: ENSG00000010219;
snps: rs12306130 rs746486416 rs3741927 rs1801016
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NR20-1; Sequence=Displayed; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; Name=2; IsoId=Q9NR20-2; Sequence=VSP_013745; Name=3; IsoId=Q9NR20-3; Sequence=VSP_057132; Note=No experimental confirmation available.; Name=4; Synonyms=DYRK4-L; IsoId=Q9NR20-4; Sequence=VSP_057133; Note=Contains a bipartite nuclear localization signal at positions 19-37. {ECO:0000269|PubMed:21127067}; Name=5; IsoId=Q9NR20-5; Sequence=VSP_057134; Note=Due to an alternative splicing donor site in exon 19. Markedly reduced enzymatic activity. {ECO:0000269|PubMed:21127067}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:17292540}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000269|PubMed:21127067}. Nucleus {ECO:0000269|PubMed:21127067}.


uniprotID: O95620
geneSymbol: DUS4L
length: 317
go: ENSG00000105865;
snps: rs6956789 rs6957510
name:
tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like (EC 1.3.1.-) (pp35) (tRNA-dihydrouridine synthase 4-like)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95620-1; Sequence=Displayed; Name=2; IsoId=O95620-2; Sequence=VSP_019975; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9BV47
geneSymbol: DUSP26
pdb: 2E0T;4B04;4HRF;5GTJ;
length: 211
go: ENSG00000133878;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Golgi apparatus.
name:
Dual specificity protein phosphatase 26 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity phosphatase SKRP3) (Low-molecular-mass dual-specificity phosphatase 4) (DSP-4) (LDP-4) (Mitogen-activated protein kinase phosphatase 8) (MAP kinase phosphatase 8) (MKP-8) (Novel amplified gene in thyroid anaplastic cancer)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; p53 binding [GO:0002039]; phosphoprotein phosphatase activity [GO:0004721]; phosphoserine phosphatase activity [GO:0004647]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; RNA polymerase II activating transcription factor binding [GO:0001102]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell adhesion [GO:0045785]; positive regulation of peptidyl-serine dephosphorylation [GO:1902310]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV47-1; Sequence=Displayed; Name=2; IsoId=Q9BV47-2; Sequence=VSP_026406; 


uniprotID: Q4G0W2
geneSymbol: DUSP28
pdb: 5Y15;5Y16;
name: Dual specificity phosphatase 28 (EC 3.1.3.16) (EC 3.1.3.48)
length: 176
go: ENSG00000188542;
sequence:
MGPAEAGRRGAASPVPPPLVRVAPSLFLGSARAAGAEEQLARAGVTLCVNVSRQQPGPRAPGVAELRVPVFDDPAEDLLAHLEPTCAAMEAAVRAGGACLVYCKNGRSRSAAVCTAYLMRHRGLSLAKAFQMVKSARPVAEPNPGFWSQLQKYEEALQAQSCLQGEPPALGLGPEA

opentargets:
phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]


uniprotID: Q01094
geneSymbol: E2F1
pdb: 1H24;1O9K;2AZE;5M9N;5M9O;
length: 437
go: ENSG00000101412;
snps: rs35385772 rs3213172 rs3213173 rs3213174 rs3213176
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20040599}.
reactome:
R-HSA-111448;R-HSA-113501;R-HSA-1362277;R-HSA-1362300;R-HSA-139915;R-HSA-1912408;R-HSA-2559580;R-HSA-2559585;R-HSA-539107;R-HSA-6804116;R-HSA-68689;R-HSA-68911;R-HSA-69202;R-HSA-69231;R-HSA-69656;R-HSA-8953750;

name:
Transcription factor E2F1 (E2F-1) (PBR3) (Retinoblastoma-associated protein 1) (RBAP-1) (Retinoblastoma-binding protein 3) (RBBP-3) (pRB-binding protein E2F-1)

sequence:

opentargets:
centrosome [GO:0005813]; mitochondrion [GO:0005739]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; Rb-E2F complex [GO:0035189]; 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]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein dimerization activity [GO:0046983]; protein kinase binding [GO:0019901]; 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]; anoikis [GO:0043276]; cellular response to fatty acid [GO:0071398]; cellular response to hypoxia [GO:0071456]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to xenobiotic stimulus [GO:0071466]; DNA damage checkpoint [GO:0000077]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; forebrain development [GO:0030900]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; lens fiber cell apoptotic process [GO:1990086]; mRNA stabilization [GO:0048255]; negative regulation of DNA binding [GO:0043392]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of fat cell proliferation [GO:0070345]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0071930]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene expression [GO:0010628]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell cycle [GO:0051726]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; regulation of transcription, DNA-templated [GO:0006355]; spermatogenesis [GO:0007283]; transcription, DNA-templated [GO:0006351]


uniprotID: P25101
geneSymbol: EDNRA
reactome: R-HSA-375276;R-HSA-416476;
name: Endothelin-1 receptor (Endothelin receptor type A) (ET-A) (ETA-R) (hET-AR)
length: 427
go: ENSG00000151617;
drug: DB00945;DB05367;DB06403;DB00559;DB04883;DB08932;DB05206;DB06268;DB05290;
snps: rs786205230 rs876657388
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; endothelin receptor activity [GO:0004962]; phosphatidylinositol phospholipase C activity [GO:0004435]; activation of adenylate cyclase activity [GO:0007190]; activation of phospholipase C activity [GO:0007202]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; artery smooth muscle contraction [GO:0014824]; branching involved in blood vessel morphogenesis [GO:0001569]; cell proliferation [GO:0008283]; enteric nervous system development [GO:0048484]; G protein-coupled receptor signaling pathway [GO:0007186]; head development [GO:0060322]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; neural crest cell development [GO:0014032]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of blood pressure [GO:0008217]; regulation of glucose transmembrane transport [GO:0010827]; respiratory gaseous exchange [GO:0007585]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; smooth muscle contraction [GO:0006939]; vasoconstriction [GO:0042310]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P25101-1; Sequence=Displayed; Name=2; Synonyms=Delta-3; IsoId=P25101-2; Sequence=VSP_011059, VSP_011060; Name=3; Synonyms=Delta-4; IsoId=P25101-3; Sequence=VSP_011062, VSP_011063; Name=4; Synonyms=Delta-3,4; IsoId=P25101-4; Sequence=VSP_011061; Name=5; IsoId=P25101-5; Sequence=VSP_045578; Note=No experimental confirmation available.; 


uniprotID: Q8WWZ3
geneSymbol: EDARADD
reactome: R-HSA-5669034;
length: 215
go: ENSG00000186197;
snps: rs966365 rs114632254 rs121908116 rs74315309
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Ectodysplasin-A receptor-associated adapter protein (EDAR-associated death domain protein) (Protein crinkled homolog)

sequence:

opentargets:
cytosol [GO:0005829]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q8WWZ3-1; Sequence=Displayed; Name=B; IsoId=Q8WWZ3-2; Sequence=VSP_003861; 


uniprotID: Q96JC9
geneSymbol: EAF1
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;
name: ELL-associated factor 1
length: 268
go: ENSG00000144597;
sequence:

opentargets:
Cajal body [GO:0015030]; ELL-EAF complex [GO:0032783]; intercellular bridge [GO:0045171]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023]; regulation of transcription, DNA-templated [GO:0006355]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JC9-1; Sequence=Displayed; Name=2; IsoId=Q96JC9-2; Sequence=VSP_056193, VSP_056194; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:11418481}. Nucleus, Cajal body {ECO:0000269|PubMed:12686606}.


uniprotID: P60507
geneSymbol: ERVFC1
length: 584
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
name:
Endogenous retrovirus group FC1 Env polyprotein (Envelope polyprotein) (Fc1env) (HERV-F(c)1_Xq21.33 provirus ancestral Env polyprotein) (HERV-Fc1env) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Virion.; SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q8IYY4
geneSymbol: DZIP1L
name: Zinc finger protein DZIP1L (DAZ-interacting protein 1-like protein)
length: 767
go: ENSG00000158163;
snps: rs555349004 rs1135402754 rs2724693 rs446644 rs11917468 rs374045 rs442800
sequence:

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; cilium assembly [GO:0060271]; regulation of protein localization [GO:0032880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYY4-1; Sequence=Displayed; Name=2; IsoId=Q8IYY4-2; Sequence=VSP_033158, VSP_033159; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:19852954, ECO:0000269|PubMed:28530676}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28530676}. Note=Localizes to centrioles and to the distal ends of basal bodies (PubMed:28530676). {ECO:0000269|PubMed:28530676}.


uniprotID: Q9BQL6
geneSymbol: FERMT1
length: 677
go: ENSG00000101311;
snps: rs16991866 rs55666319 rs869312718 rs2232074 rs2232078 rs869312719
name:
Fermitin family homolog 1 (Kindlerin) (Kindlin syndrome protein) (Kindlin-1) (Unc-112-related protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; ruffle membrane [GO:0032587]; actin filament binding [GO:0051015]; basement membrane organization [GO:0071711]; cell adhesion [GO:0007155]; establishment of epithelial cell polarity [GO:0090162]; integrin-mediated signaling pathway [GO:0007229]; keratinocyte migration [GO:0051546]; keratinocyte proliferation [GO:0043616]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of gene expression [GO:0010629]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of stem cell proliferation [GO:2000647]; negative regulation of timing of anagen [GO:0051886]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; positive regulation of transforming growth factor-beta secretion [GO:2001203]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQL6-1; Sequence=Displayed; Name=2; IsoId=Q9BQL6-2; Sequence=VSP_003810, VSP_003811; Name=3; IsoId=Q9BQL6-3; Sequence=VSP_003809; Name=4; IsoId=Q9BQL6-4; Sequence=VSP_009224, VSP_009225; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions. Localized at the basal aspect of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes to membrane ruffles.


uniprotID: Q9NYC9
geneSymbol: DNAH9
name: Dynein heavy chain 9, axonemal (Axonemal beta dynein heavy chain 9) (Ciliary dynein heavy chain 9)
length: 4486
go: ENSG00000007174;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme.
sequence:

opentargets:
9+2 motile cilium [GO:0097729]; axoneme [GO:0005930]; distal portion of axoneme [GO:0120135]; 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]; cell projection organization [GO:0030030]; microtubule-based movement [GO:0007018]

snps:
rs17599639 rs9892256 rs16945138 rs8070501 rs9916482 rs9892290 rs3744581 rs2277658 rs11870983 rs11871037 rs138874996 rs16945431 rs3760436 rs17612861 rs1990236 rs9913494 rs8074656 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYC9-1; Sequence=Displayed; Name=2; IsoId=Q9NYC9-2; Sequence=VSP_035285; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYC9-3; Sequence=VSP_043443; Note=No experimental confirmation available.; 


uniprotID: Q9BV94
geneSymbol: EDEM2
reactome: R-HSA-901032;
name: ER degradation-enhancing alpha-mannosidase-like protein 2
length: 578
go: ENSG00000088298;
snps: rs3746429 rs6060248 rs1052056
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:15537790}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; 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]; positive regulation of retrograde protein transport, ER to cytosol [GO:1904154]; response to unfolded protein [GO:0006986]; trimming of first mannose on A branch [GO:0036511]; trimming of second mannose on A branch [GO:0036512]; trimming of terminal mannose on B branch [GO:0036509]; trimming of terminal mannose on C branch [GO:0036510]; ubiquitin-dependent glycoprotein ERAD pathway [GO:0097466]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV94-1; Sequence=Displayed; Name=2; IsoId=Q9BV94-2; Sequence=VSP_013183; 


uniprotID: Q8N7B9
geneSymbol: EFCAB3
name: EF-hand calcium-binding domain-containing protein 3
length: 438
go: ENSG00000172421;
opentargets: calcium ion binding [GO:0005509]
snps: rs12602985 rs1056642 rs1056643
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7B9-1; Sequence=Displayed; Name=2; IsoId=Q8N7B9-2; Sequence=VSP_047183; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9BUP0
geneSymbol: EFHD1
name: EF-hand domain-containing protein D1 (EF-hand domain-containing protein 1) (Swiprosin-2)
length: 239
go: ENSG00000115468;
snps: rs11550699
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q9D4J1}.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; calcium ion binding [GO:0005509]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUP0-1; Sequence=Displayed; Name=2; IsoId=Q9BUP0-2; Sequence=VSP_045541; Note=No experimental confirmation available.; 


uniprotID: Q9UKW6
geneSymbol: ELF5
pdb: 1WWX;
length: 265
go: ENSG00000135374;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00237}.
name:
ETS-related transcription factor Elf-5 (E74-like factor 5) (Epithelium-restricted ESE-1-related Ets factor) (Epithelium-specific Ets transcription factor 2) (ESE-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; ectodermal cell fate commitment [GO:0001712]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of cell differentiation [GO:0045596]; regulation of transcription by RNA polymerase II [GO:0006357]; somatic stem cell population maintenance [GO:0035019]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ESE-2a; IsoId=Q9UKW6-1; Sequence=Displayed; Name=2; Synonyms=ESE-2b; IsoId=Q9UKW6-2; Sequence=VSP_014510; Name=3; IsoId=Q9UKW6-3; Sequence=VSP_014510, VSP_014511, VSP_014512; Note=No experimental confirmation available.; Name=4; IsoId=Q9UKW6-4; Sequence=VSP_014510, VSP_054662; 


uniprotID: O00472
geneSymbol: ELL2
reactome: R-HSA-6807505;
pdb: 2E5N;5JW9;
name: RNA polymerase II elongation factor ELL2
length: 640
go: ENSG00000118985;
snps: rs3815768
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription elongation factor complex [GO:0008023]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00472-1; Sequence=Displayed; Name=2; IsoId=O00472-2; Sequence=VSP_055476; Note=No experimental confirmation available.; 


uniprotID: Q9NXB9
geneSymbol: ELOVL2
reactome: R-HSA-2046105;R-HSA-2046106;R-HSA-75876;
length: 296
go: ENSG00000197977;
snps: rs17855038 rs6919726
name:
Elongation of very long chain fatty acids protein 2 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL2) (ELOVL fatty acid elongase 2) (ELOVL FA elongase 2) (Very long chain 3-ketoacyl-CoA synthase 2) (Very long chain 3-oxoacyl-CoA synthase 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; 3-oxo-arachidoyl-CoA synthase activity [GO:0102336]; 3-oxo-cerotoyl-CoA synthase activity [GO:0102337]; 3-oxo-lignoceronyl-CoA synthase activity [GO:0102338]; fatty acid elongase activity [GO:0009922]; very-long-chain 3-ketoacyl-CoA synthase activity [GO:0102756]; alpha-linolenic acid metabolic process [GO:0036109]; fatty acid elongation, monounsaturated fatty acid [GO:0034625]; fatty acid elongation, polyunsaturated fatty acid [GO:0034626]; fatty acid elongation, saturated fatty acid [GO:0019367]; linoleic acid metabolic process [GO:0043651]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; sphingolipid biosynthetic process [GO:0030148]; unsaturated fatty acid biosynthetic process [GO:0006636]; very long-chain fatty acid biosynthetic process [GO:0042761]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03202, ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03202}.


uniprotID: Q8N336
geneSymbol: ELMOD1
name: ELMO domain-containing protein 1
length: 334
go: ENSG00000110675;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]; GTPase activator activity [GO:0005096]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N336-1; Sequence=Displayed; Name=2; IsoId=Q8N336-2; Sequence=VSP_044832, VSP_044833; Note=No experimental confirmation available.; Name=3; IsoId=Q8N336-3; Sequence=VSP_044833; Note=No experimental confirmation available.; 


uniprotID: Q9NYP7
geneSymbol: ELOVL5
reactome: R-HSA-2046105;R-HSA-2046106;R-HSA-75876;
length: 299
go: ENSG00000012660;
snps: rs587777671 rs587777670
name:
Elongation of very long chain fatty acids protein 5 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL5) (ELOVL fatty acid elongase 5) (ELOVL FA elongase 5) (Fatty acid elongase 1) (hELO1) (Very long chain 3-ketoacyl-CoA synthase 5) (Very long chain 3-oxoacyl-CoA synthase 5)

sequence:

opentargets:
dendrite [GO:0030425]; dendritic tree [GO:0097447]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; 3-oxo-arachidoyl-CoA synthase activity [GO:0102336]; 3-oxo-cerotoyl-CoA synthase activity [GO:0102337]; 3-oxo-lignoceronyl-CoA synthase activity [GO:0102338]; fatty acid elongase activity [GO:0009922]; very-long-chain 3-ketoacyl-CoA synthase activity [GO:0102756]; alpha-linolenic acid metabolic process [GO:0036109]; fatty acid elongation, monounsaturated fatty acid [GO:0034625]; fatty acid elongation, polyunsaturated fatty acid [GO:0034626]; fatty acid elongation, saturated fatty acid [GO:0019367]; linoleic acid metabolic process [GO:0043651]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; positive regulation of fatty acid biosynthetic process [GO:0045723]; sphingolipid biosynthetic process [GO:0030148]; unsaturated fatty acid biosynthetic process [GO:0006636]; very long-chain fatty acid biosynthetic process [GO:0042761]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYP7-1; Sequence=Displayed; Name=2; IsoId=Q9NYP7-2; Sequence=VSP_045918; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYP7-3; Sequence=VSP_045917, VSP_045919; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:20937905}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03205}. Cell projection, dendrite {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:25065913}. Note=In Purkinje cells, the protein localizes to the soma and proximal portion of the dendritic tree. {ECO:0000255|HAMAP-Rule:MF_03205, ECO:0000269|PubMed:25065913}.


uniprotID: Q00013
geneSymbol: MPP1
pdb: 2EJY;2EV8;3NEY;
name: 55 kDa erythrocyte membrane protein (p55) (Membrane protein, palmitoylated 1)
length: 466
go: ENSG00000130830;
snps: rs14092
sequence:

opentargets:
cortical cytoskeleton [GO:0030863]; cytosol [GO:0005829]; intracellular [GO:0005622]; membrane [GO:0016020]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; guanylate kinase activity [GO:0004385]; regulation of neutrophil chemotaxis [GO:0090022]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q00013-1; Sequence=Displayed; Name=2; IsoId=Q00013-2; Sequence=VSP_042675; Note=No experimental confirmation available.; Name=3; IsoId=Q00013-3; Sequence=VSP_044634; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Cell projection, stereocilium {ECO:0000250}. Note=Colocalizes with WHRN at stereocilium tip during hair cell development (By similarity). Colocalizes with MPP5 in the retina, at the outer limiting membrane (OLM). Colocalizes with WHRN in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). Colocalizes with NF2 in non-myelin-forming Schwann cells. {ECO:0000250}.


uniprotID: Q96AY2
geneSymbol: EME1
reactome: R-HSA-5693568;R-HSA-6783310;
pdb: 2ZIU;2ZIV;2ZIW;2ZIX;4P0P;4P0Q;4P0R;4P0S;
name: Crossover junction endonuclease EME1 (EC 3.1.22.-) (MMS4 homolog) (hMMS4)
length: 570
go: ENSG00000154920;
snps: rs35248609 rs9896405 rs17714854 rs3760413 rs7222520 rs12450550
sequence:

opentargets:
Holliday junction resolvase complex [GO:0048476]; nuclear chromatin [GO:0000790]; nuclear heterochromatin [GO:0005720]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; endodeoxyribonuclease activity [GO:0004520]; metal ion binding [GO:0046872]; double-strand break repair [GO:0006302]; interstrand cross-link repair [GO:0036297]; intra-S DNA damage checkpoint [GO:0031573]; replication fork processing [GO:0031297]; resolution of meiotic recombination intermediates [GO:0000712]; response to intra-S DNA damage checkpoint signaling [GO:0072429]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AY2-1; Sequence=Displayed; Name=2; IsoId=Q96AY2-2; Sequence=VSP_017284; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:14617801}. Note=Recruited to regions of DNA damage in S-phase cells.


uniprotID: O43402
geneSymbol: EMC8
name: ER membrane protein complex subunit 8 (Neighbor of COX4) (Protein FAM158B)
length: 210
go: ENSG00000131148;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22119785}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ER membrane protein complex [GO:0072546]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43402-1; Sequence=Displayed; Name=2; IsoId=O43402-2; Sequence=VSP_045089; Note=No experimental confirmation available.; 


uniprotID: Q96A84
geneSymbol: EMID1
name: EMI domain-containing protein 1 (Emilin and multimerin domain-containing protein 1) (Emu1)
length: 441
go: ENSG00000186998;
snps: rs743920
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen trimer [GO:0005581]; endoplasmic reticulum [GO:0005783]; extracellular matrix [GO:0031012]; Golgi apparatus [GO:0005794]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96A84-1; Sequence=Displayed; Name=2; IsoId=Q96A84-2; Sequence=VSP_008445; Note=May be due to a competing acceptor splice site.; Name=3; IsoId=Q96A84-3; Sequence=VSP_011824; Note=May be due to a competing acceptor splice site.; 


uniprotID: P54849
geneSymbol: EMP1
name: Epithelial membrane protein 1 (EMP-1) (CL-20) (Protein B4B) (Tumor-associated membrane protein)
length: 157
go: ENSG00000134531;
snps: rs34412222
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MLVLLAGIFVVHIATVIMLFVSTIANVWLVSNTVDASVGLWKNCTNISCSDSLSYASEDALKTVQAFMILSIIFCVIALLVFVFQLFTMEKGNRFFLSGATTLVCWLCILVGVSIYTSHYANRDGTQYHHGYSYILGWICFCFSFIIGVLYLVLRKK

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; bleb assembly [GO:0032060]; cell death [GO:0008219]; cell proliferation [GO:0008283]; epidermis development [GO:0008544]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P54849-1; Sequence=Displayed; Name=2; IsoId=P54849-2; Sequence=VSP_056984; Note=No experimental confirmation available.; 


uniprotID: Q8N8S7
geneSymbol: ENAH
reactome: R-HSA-202433;R-HSA-376176;
pdb: 2HO2;2IYB;2XQN;4MY6;5N91;5N9C;5N9P;5NAJ;5NBF;5NBX;5NC2;5NC7;5NCF;5NCG;5NCP;5ND0;5NDU;5NEG;
name: Protein enabled homolog
length: 591
go: ENSG00000154380;
sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; synapse [GO:0045202]; actin binding [GO:0003779]; SH3 domain binding [GO:0017124]; WW domain binding [GO:0050699]; axon guidance [GO:0007411]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N8S7-1; Sequence=Displayed; Name=2; IsoId=Q8N8S7-2; Sequence=VSP_010564; Name=3; Synonyms=Deltav6; IsoId=Q8N8S7-3; Sequence=VSP_053772, VSP_053773; Note=Expression restricted to invasive cancer cells. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, focal adhesion. Note=Targeted to the leading edge of lamellipodia and filopodia by MRL family members. Colocalizes at filopodial tips with a number of other proteins including vinculin and zyxlin. Colocalizes with N-WASP at the leading edge. Colocalizes with GPHN and PFN at synapses (By similarity). {ECO:0000250}.


uniprotID: O14682
geneSymbol: ENC1
length: 589
go: ENSG00000171617;
snps: rs16872126
name:
Ectoderm-neural cortex protein 1 (ENC-1) (Kelch-like protein 37) (Nuclear matrix protein NRP/B) (p53-induced gene 10 protein)

sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; neuronal cell body [GO:0043025]; nuclear chromatin [GO:0000790]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; actin binding [GO:0003779]; multicellular organism development [GO:0007275]; negative regulation of translation [GO:0017148]; nervous system development [GO:0007399]; positive regulation of neuron projection development [GO:0010976]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14682-1; Sequence=Displayed; Name=2; IsoId=O14682-2; Sequence=VSP_045074; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000269|PubMed:19424503}. Cytoplasm {ECO:0000269|PubMed:19424503}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19424503}.


uniprotID: Q6PIW4
geneSymbol: FIGNL1
pdb: 3D8B;
name: Fidgetin-like protein 1 (EC 3.6.4.-)
length: 674
go: ENSG00000132436;
snps: rs10235371 rs35929700
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nuclear chromosome [GO:0000228]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; hydrolase activity [GO:0016787]; magnesium ion binding [GO:0000287]; microtubule-severing ATPase activity [GO:0008568]; ATP metabolic process [GO:0046034]; cellular response to ionizing radiation [GO:0071479]; cytoplasmic microtubule organization [GO:0031122]; male meiotic nuclear division [GO:0007140]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; osteoblast differentiation [GO:0001649]; osteoblast proliferation [GO:0033687]; regulation of cell cycle [GO:0051726]; regulation of double-strand break repair via homologous recombination [GO:0010569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PIW4-1; Sequence=Displayed; Name=2; IsoId=Q6PIW4-2; Sequence=VSP_027937; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23754376}. Cytoplasm {ECO:0000250|UniProtKB:Q8BPY9}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q8BPY9}. Note=Together with RAD51 and a subset of H2A histone proteins, redistributed in discrete nuclear DNA damage-induced foci after ionizing radiation (IR) treatment (PubMed:23754376).


uniprotID: P21128
geneSymbol: ENDOU
length: 410
go: ENSG00000111405;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Poly(U)-specific endoribonuclease (EC 3.1.-.-) (Placental protein 11) (PP11) (Protein endoU) (Uridylate-specific endoribonuclease)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; endoribonuclease activity [GO:0004521]; growth factor activity [GO:0008083]; manganese ion binding [GO:0030145]; polysaccharide binding [GO:0030247]; RNA binding [GO:0003723]; scavenger receptor activity [GO:0005044]; serine-type peptidase activity [GO:0008236]; female pregnancy [GO:0007565]; immune response [GO:0006955]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P21128-1; Sequence=Displayed; Name=2; IsoId=P21128-2; Sequence=VSP_039216; Name=3; IsoId=P21128-3; Sequence=VSP_039215; Note=No experimental confirmation available.; 


uniprotID: P68106
geneSymbol: FKBP1B
reactome: R-HSA-2672351;R-HSA-5578775;
length: 108
go: ENSG00000119782;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Sarcoplasmic reticulum {ECO:0000250}.
pdb:
1C9H;4C02;4IQ2;4IQC;5HKG;5L1D;5T15;5T9M;5T9N;5T9R;5T9S;5T9V;5TA3;5TAL;5TAM;5TAN;5TAP;5TAQ;5TAS;5TAT;5TAU;5TAV;5TAW;5TAX;5TAY;5TAZ;5TB0;5TB1;5TB2;5TB3;5TB4;

name:
Peptidyl-prolyl cis-trans isomerase FKBP1B (PPIase FKBP1B) (EC 5.2.1.8) (12.6 kDa FK506-binding protein) (12.6 kDa FKBP) (FKBP-12.6) (FK506-binding protein 1B) (FKBP-1B) (Immunophilin FKBP12.6) (Rotamase) (h-FKBP-12)

sequence:
MGVEIETISPGDGRTFPKKGQTCVVHYTGMLQNGKKFDSSRDRNKPFKFRIGKQEVIKGFEEGAAQMSLGQRAKLTCTPDVAYGATGHPGVIPPNATLIFDVELLNLE

opentargets:
calcium channel complex [GO:0034704]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; sarcoplasmic reticulum membrane [GO:0033017]; Z disc [GO:0030018]; calcium channel inhibitor activity [GO:0019855]; cyclic nucleotide binding [GO:0030551]; FK506 binding [GO:0005528]; ion channel binding [GO:0044325]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; signaling receptor binding [GO:0005102]; 'de novo' protein folding [GO:0006458]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; chaperone-mediated protein folding [GO:0061077]; insulin secretion [GO:0030073]; ion transmembrane transport [GO:0034220]; negative regulation of heart rate [GO:0010459]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; negative regulation of release of sequestered calcium ion into cytosol [GO:0051280]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; neuronal action potential propagation [GO:0019227]; positive regulation of axon regeneration [GO:0048680]; positive regulation of sequestering of calcium ion [GO:0051284]; protein maturation by protein folding [GO:0022417]; protein peptidyl-prolyl isomerization [GO:0000413]; protein refolding [GO:0042026]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0014808]; response to glucose [GO:0009749]; response to hydrogen peroxide [GO:0042542]; response to redox state [GO:0051775]; response to vitamin E [GO:0033197]; smooth muscle contraction [GO:0006939]; T cell proliferation [GO:0042098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P68106-1, Q16645-1; Sequence=Displayed; Name=2; IsoId=P68106-2, Q16645-2; Sequence=VSP_005184; 


uniprotID: Q902F8
geneSymbol: ERVK-8
length: 699
name:
Endogenous retrovirus group K member 8 Env polyprotein (EnvK6 protein) (Envelope polyprotein) (HERV-K115 envelope protein) (HERV-K_8p23.1 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; structural molecule activity [GO:0005198]

location:
SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.; SUBCELLULAR LOCATION: Endogenous retrovirus group K member 8 Env polyprotein: Virion {ECO:0000250}.


uniprotID: P29322
geneSymbol: EPHA8
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 1UCV;1X5L;3KUL;
length: 1005
go: ENSG00000070886;
snps: rs45498698 rs56402644 rs56656925 rs2295021 rs999765
name:
Ephrin type-A receptor 8 (EC 2.7.10.1) (EPH- and ELK-related kinase) (EPH-like kinase 3) (EK3) (hEK3) (Tyrosine-protein kinase receptor EEK)

sequence:

opentargets:
cytoplasm [GO:0005737]; early endosome membrane [GO:0031901]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; GPI-linked ephrin receptor activity [GO:0005004]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; neuron projection development [GO:0031175]; neuron remodeling [GO:0016322]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; protein autophosphorylation [GO:0046777]; regulation of cell adhesion [GO:0030155]; regulation of cell adhesion mediated by integrin [GO:0033628]; substrate-dependent cell migration [GO:0006929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29322-1; Sequence=Displayed; Name=2; IsoId=P29322-2; Sequence=VSP_041946, VSP_041947; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O09127}; Single-pass type I membrane protein {ECO:0000255}. Cell projection {ECO:0000250|UniProtKB:O09127}. Early endosome membrane {ECO:0000250|UniProtKB:O09127}. Note=Undergoes clathrin-mediated endocytosis upon EFNA5-binding and is targeted to early endosomes. {ECO:0000250|UniProtKB:O09127}.


uniprotID: P54762
geneSymbol: EPHB1
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
pdb: 2DJS;2EAO;3ZFX;5MJA;5MJB;
length: 984
go: ENSG00000154928;
name:
Ephrin type-B receptor 1 (EC 2.7.10.1) (ELK) (EPH tyrosine kinase 2) (EPH-like kinase 6) (EK6) (hEK6) (Neuronally-expressed EPH-related tyrosine kinase) (NET) (Tyrosine-protein kinase receptor EPH-2)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; filopodium tip [GO:0032433]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; axon guidance receptor activity [GO:0008046]; protein tyrosine kinase activity [GO:0004713]; protein-containing complex binding [GO:0044877]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; angiogenesis [GO:0001525]; axon guidance [GO:0007411]; camera-type eye morphogenesis [GO:0048593]; cell chemotaxis [GO:0060326]; cell differentiation [GO:0030154]; cell-substrate adhesion [GO:0031589]; central nervous system projection neuron axonogenesis [GO:0021952]; dendritic spine development [GO:0060996]; dendritic spine morphogenesis [GO:0060997]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; ephrin receptor signaling pathway [GO:0048013]; establishment of cell polarity [GO:0030010]; immunological synapse formation [GO:0001771]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of apoptotic process [GO:0043066]; negative regulation of satellite cell differentiation [GO:1902725]; negative regulation of signal transduction [GO:0009968]; negative regulation of skeletal muscle satellite cell proliferation [GO:1902723]; neural precursor cell proliferation [GO:0061351]; neurogenesis [GO:0022008]; optic nerve morphogenesis [GO:0021631]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of synapse assembly [GO:0051965]; protein autophosphorylation [GO:0046777]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of JNK cascade [GO:0046328]; regulation of neuron death [GO:1901214]; retinal ganglion cell axon guidance [GO:0031290]; skeletal muscle satellite cell activation [GO:0014719]

snps:
rs55650774 rs1042794 rs1042793 rs1042789 rs56396912 rs1042788 rs1042785 rs56345346 rs1042784 rs56186270 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54762-1; Sequence=Displayed; Name=2; IsoId=P54762-5; Sequence=VSP_056017; Note=No experimental confirmation available.; Name=3; IsoId=P54762-6; Sequence=VSP_056018, VSP_056019; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18034775}; Single-pass type I membrane protein {ECO:0000269|PubMed:18034775}. Early endosome membrane {ECO:0000269|PubMed:18034775}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8CBF3}.


uniprotID: Q7L775
geneSymbol: EPM2AIP1
name: EPM2A-interacting protein 1 (Laforin-interacting protein)
length: 607
go: ENSG00000178567;
snps: rs4647202 rs4647201
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:12782127}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; positive regulation of glycogen (starch) synthase activity [GO:2000467]; positive regulation of glycogen biosynthetic process [GO:0045725]; response to insulin [GO:0032868]


uniprotID: Q9Y6I3
geneSymbol: EPN1
reactome: R-HSA-182971;R-HSA-8856825;R-HSA-8856828;
pdb: 1INZ;1KYD;
name: Epsin-1 (EH domain-binding mitotic phosphoprotein) (EPS-15-interacting protein 1)
length: 576
go: ENSG00000063245;
sequence:

opentargets:
clathrin-coated pit [GO:0005905]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; lipid binding [GO:0008289]; embryonic organ development [GO:0048568]; endocytosis [GO:0006897]; female pregnancy [GO:0007565]; in utero embryonic development [GO:0001701]; membrane organization [GO:0061024]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of sprouting angiogenesis [GO:1903671]; Notch signaling pathway [GO:0007219]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6I3-2; Sequence=Displayed; Name=2; IsoId=Q9Y6I3-1; Sequence=VSP_041010, VSP_041011; Name=3; IsoId=Q9Y6I3-3; Sequence=VSP_041011, VSP_041012; Note=May be due to a competing donor splice site. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Membrane, clathrin-coated pit {ECO:0000250}. Note=Associated with the cytoplasmic membrane at sites where clathrin-coated pits are forming. Colocalizes with clathrin and AP-2 in a punctate pattern on the plasma membrane. Detected in presynaptic nerve terminals and in Golgi stacks. May shuttle to the nucleus when associated with ZBTB16/ZNF145 (By similarity). {ECO:0000250}.


uniprotID: P54756
geneSymbol: EPHA5
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 2R2P;4ET7;
length: 1037
go: ENSG00000145242;
name:
Ephrin type-A receptor 5 (EC 2.7.10.1) (Brain-specific kinase) (EPH homology kinase 1) (EHK-1) (EPH-like kinase 7) (EK7) (hEK7)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; rough endoplasmic reticulum [GO:0005791]; ATP binding [GO:0005524]; ephrin receptor activity [GO:0005003]; GPI-linked ephrin receptor activity [GO:0005004]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; axon guidance [GO:0007411]; cAMP-mediated signaling [GO:0019933]; cell differentiation [GO:0030154]; ephrin receptor signaling pathway [GO:0048013]; hippocampus development [GO:0021766]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; neuron development [GO:0048666]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of GTPase activity [GO:0043087]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]

snps:
rs33932471 rs55710198 rs56205382 rs199614818 rs56074660 rs1057520012 rs36050417 rs56359290 rs56312931 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P54756-1; Sequence=Displayed; Name=2; IsoId=P54756-2; Sequence=VSP_002999; Name=3; IsoId=P54756-3; Sequence=VSP_039118, VSP_039119; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10375373}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:P54757}. Cell projection, dendrite {ECO:0000269|PubMed:10375373, ECO:0000269|PubMed:9191074}.


uniprotID: Q9UF33
geneSymbol: EPHA6
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
name: Ephrin type-A receptor 6 (EC 2.7.10.1) (EPH homology kinase 2) (EHK-2) (EPH-like kinase 12) (EK12)
length: 1036
go: ENSG00000080224;
snps: rs4857276
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; cell differentiation [GO:0030154]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UF33-1; Sequence=Displayed; Name=2; IsoId=Q9UF33-2; Sequence=VSP_018473, VSP_018474, VSP_018475, VSP_018476; Name=3; IsoId=Q9UF33-3; Sequence=VSP_018473, VSP_018474, VSP_054716, VSP_054717; 


uniprotID: Q13045
geneSymbol: FLII
name: Protein flightless-1 homolog
length: 1269
go: ENSG00000177731;
snps: rs8821
sequence:

opentargets:
brush border [GO:0005903]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]; actin filament severing [GO:0051014]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13045-1; Sequence=Displayed; Name=2; IsoId=Q13045-2; Sequence=VSP_044686, VSP_044687; Note=No experimental confirmation available.; Name=3; IsoId=Q13045-3; Sequence=VSP_046887; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cell junction, focal adhesion {ECO:0000250}. Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity). {ECO:0000250}.


uniprotID: Q7Z7B0
geneSymbol: FILIP1
name: Filamin-A-interacting protein 1 (FILIP)
length: 1213
go: ENSG00000118407;
snps: rs34807169
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23087206}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=L-FILIP; IsoId=Q7Z7B0-1; Sequence=Displayed; Name=2; IsoId=Q7Z7B0-2; Sequence=VSP_018345; Note=No experimental confirmation available.; Name=3; Synonyms=S-FILIP; IsoId=Q7Z7B0-3; Sequence=VSP_018344; 


uniprotID: P21333
geneSymbol: FLNA
reactome: R-HSA-114608;R-HSA-430116;R-HSA-446353;R-HSA-5627123;
length: 2647
go: ENSG00000196924;
location: SUBCELLULAR LOCATION: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton.
pdb:
2AAV;2BP3;2BRQ;2J3S;2JF1;2K3T;2K7P;2K7Q;2MTP;2W0P;2WFN;3CNK;3HOC;3HOP;3HOR;3ISW;3RGH;4M9P;4P3W;5XR1;6D8C;

name:
Filamin-A (FLN-A) (Actin-binding protein 280) (ABP-280) (Alpha-filamin) (Endothelial actin-binding protein) (Filamin-1) (Non-muscle filamin)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; apical dendrite [GO:0097440]; cell-cell junction [GO:0005911]; cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; Myb complex [GO:0031523]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; Fc-gamma receptor I complex binding [GO:0034988]; G protein-coupled receptor binding [GO:0001664]; GTPase binding [GO:0051020]; ion channel binding [GO:0044325]; kinase binding [GO:0019900]; mu-type opioid receptor binding [GO:0031852]; potassium channel regulator activity [GO:0015459]; protein homodimerization activity [GO:0042803]; Rac GTPase binding [GO:0048365]; Ral GTPase binding [GO:0017160]; Rho GTPase binding [GO:0017048]; RNA binding [GO:0003723]; SMAD binding [GO:0046332]; small GTPase binding [GO:0031267]; transcription factor binding [GO:0008134]; actin crosslink formation [GO:0051764]; actin cytoskeleton reorganization [GO:0031532]; adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:0007195]; cell junction assembly [GO:0034329]; cerebral cortex development [GO:0021987]; cilium assembly [GO:0060271]; cytoplasmic sequestering of protein [GO:0051220]; establishment of protein localization [GO:0045184]; establishment of Sertoli cell barrier [GO:0097368]; formation of radial glial scaffolds [GO:0021943]; mitotic spindle assembly [GO:0090307]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of transcription by RNA polymerase I [GO:0016479]; platelet activation [GO:0030168]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of actin filament bundle assembly [GO:0032233]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of integrin-mediated signaling pathway [GO:2001046]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of neuron migration [GO:2001224]; positive regulation of potassium ion transmembrane transport [GO:1901381]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; protein localization to bicellular tight junction [GO:1902396]; protein localization to cell surface [GO:0034394]; protein localization to plasma membrane [GO:0072659]; protein stabilization [GO:0050821]; receptor clustering [GO:0043113]; regulation of cell migration [GO:0030334]; regulation of membrane repolarization during atrial cardiac muscle cell action potential [GO:1905000]; regulation of membrane repolarization during cardiac muscle cell action potential [GO:1905031]; semaphorin-plexin signaling pathway [GO:0071526]; wound healing, spreading of cells [GO:0044319]

snps:
rs137853313 rs28935169 rs137853315 rs863223628 rs137853317 rs137853314 rs28935469 rs137853318 rs28935470 rs267606816 rs1064816 rs1064817 rs36051194 rs143873938 rs730319 rs782611953 rs267606815 rs137853311 rs267606817 rs17091204 rs28935471 rs80338837 rs137853312 rs28935472 rs28935473 rs137853319 rs35504556 rs137853316 rs57108893 rs368750879 rs727503930 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21333-1; Sequence=Displayed; Name=2; IsoId=P21333-2; Sequence=VSP_035454; Note=No experimental confirmation available.; 


uniprotID: O75369
geneSymbol: FLNB
reactome: R-HSA-1169408;
length: 2602
go: ENSG00000136068;
pdb:
2DI8;2DI9;2DIA;2DIB;2DIC;2DJ4;2DLG;2DMB;2DMC;2E9I;2E9J;2EE6;2EE9;2EEA;2EEB;2EEC;2EED;2WA5;2WA6;2WA7;3FER;4B7L;5DCP;

name:
Filamin-B (FLN-B) (ABP-278) (ABP-280 homolog) (Actin-binding-like protein) (Beta-filamin) (Filamin homolog 1) (Fh1) (Filamin-3) (Thyroid autoantigen) (Truncated actin-binding protein) (Truncated ABP)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; brush border [GO:0005903]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; actin cytoskeleton organization [GO:0030036]; cellular response to interferon-gamma [GO:0071346]; cytoskeletal anchoring at plasma membrane [GO:0007016]; epithelial cell morphogenesis [GO:0003382]; keratinocyte development [GO:0003334]; signal transduction [GO:0007165]; skeletal muscle tissue development [GO:0007519]

snps:
rs80356506 rs80356504 rs80356494 rs121908894 rs121908895 rs80356508 rs80356507 rs121908896 rs80356509 rs80356510 rs150747960 rs28937587 rs2276742 rs1131356 rs17058845 rs80356511 rs12632456 rs80356513 rs80356514 rs80356515 rs80356503 rs80356516 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=ABP-278; IsoId=O75369-1; Sequence=Displayed; Name=2; Synonyms=ABP-276; IsoId=O75369-2; Sequence=VSP_008773; Note=May be due to exon skipping.; Name=3; Synonyms=Var-1; IsoId=O75369-3; Sequence=VSP_008774; Note=May be due to exon skipping.; Name=7; IsoId=O75369-7; Sequence=VSP_024113, VSP_024114, VSP_024115; Name=4; Synonyms=Var-3; IsoId=O75369-4; Sequence=VSP_008775, VSP_008776; Name=5; Synonyms=Var-2; IsoId=O75369-5; Sequence=VSP_008777, VSP_008778; Note=May be due to competing donor splice sites.; Name=6; Synonyms=Var-1-DeltaH1; IsoId=O75369-6; Sequence=VSP_008773, VSP_008774; Note=May be due to exon skipping.; Name=8; IsoId=O75369-8; Sequence=VSP_043446; Name=9; IsoId=O75369-9; Sequence=VSP_024115; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform 1 is also detected within the Z-lines.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytoskeleton, stress fiber.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytoskeleton, stress fiber.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes.


uniprotID: Q14315
geneSymbol: FLNC
reactome: R-HSA-446353;
pdb: 1V05;2D7M;2D7N;2D7O;2D7P;2D7Q;2K9U;2NQC;3V8O;4MGX;
length: 2725
go: ENSG00000128591;
name:
Filamin-C (FLN-C) (FLNc) (ABP-280-like protein) (ABP-L) (Actin-binding-like protein) (Filamin-2) (Gamma-filamin)

sequence:

opentargets:
costamere [GO:0043034]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; sarcoplasm [GO:0016528]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; ankyrin binding [GO:0030506]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; cell junction assembly [GO:0034329]; muscle fiber development [GO:0048747]

snps:
rs387906587 rs387906586 rs2291569 rs2643766 rs2643767 rs879255639 rs1063261 rs879255640 rs1063262 rs200516164 rs2639142 rs2291572 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14315-1; Sequence=Displayed; Name=2; IsoId=Q14315-2; Sequence=VSP_007579; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11038172, ECO:0000269|PubMed:25351925}. Membrane {ECO:0000269|PubMed:11038172}; Peripheral membrane protein {ECO:0000269|PubMed:11038172}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11038172}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11038172}. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. Targeting to developing and mature Z lines is mediated by the intradomain insert.


