# annotation

uniprotID: Q13216
geneSymbol: ERCC8
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-8951664;
pdb: 4A11;
name: DNA excision repair protein ERCC-8 (Cockayne syndrome WD repeat protein CSA)
length: 396
go: ENSG00000049167;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; cytoplasm [GO:0005737]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleotide-excision repair complex [GO:0000109]; nucleus [GO:0005634]; perikaryon [GO:0043204]; protein-containing complex [GO:0032991]; protein-containing complex binding [GO:0044877]; cellular response to DNA damage stimulus [GO:0006974]; DNA duplex unwinding [GO:0032508]; nucleotide-excision repair [GO:0006289]; positive regulation of DNA repair [GO:0045739]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein polyubiquitination [GO:0000209]; response to auditory stimulus [GO:0010996]; response to organic cyclic compound [GO:0014070]; response to oxidative stress [GO:0006979]; response to UV [GO:0009411]; response to X-ray [GO:0010165]; transcription-coupled nucleotide-excision repair [GO:0006283]

snps:
rs167037 rs281875222 rs121434325 rs281875223 rs4647105 rs281875224 rs121434326 rs281875225 rs281875221 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13216-1; Sequence=Displayed; Name=2; IsoId=Q13216-2; Sequence=VSP_013914, VSP_013915; Note=No experimental confirmation available.; 


uniprotID: Q96M86
geneSymbol: DNHD1
length: 4753
go: ENSG00000179532;
name:
Dynein heavy chain domain-containing protein 1 (Dynein heavy chain domain 1-like protein) (Protein CCDC35)

sequence:

opentargets:
dynein complex [GO:0030286]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule-based movement [GO:0007018]

snps:
rs2555158 rs11605196 rs2555152 rs11040904 rs4758423 rs11603869 rs12574381 rs16915277 rs11825154 rs10769699 rs11604362 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96M86-3; Sequence=Displayed; Name=2; IsoId=Q96M86-4; Sequence=VSP_040683, VSP_040684; Name=3; IsoId=Q96M86-5; Sequence=VSP_040682, VSP_040683, VSP_040684; Note=No experimental confirmation available.; 


uniprotID: P18858
geneSymbol: LIG1
pdb: 1X9N;
name: DNA ligase 1 (EC 6.5.1.1) (DNA ligase I) (Polydeoxyribonucleotide synthase [ATP] 1)
length: 919
go: ENSG00000105486;
drug: DB00290;
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-110362;R-HSA-162594;R-HSA-174414;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5696397;R-HSA-6782210;R-HSA-69183;

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA ligase (ATP) activity [GO:0003910]; DNA ligase activity [GO:0003909]; metal ion binding [GO:0046872]; anatomical structure morphogenesis [GO:0009653]; base-excision repair [GO:0006284]; cell division [GO:0051301]; DNA biosynthetic process [GO:0071897]; DNA ligation [GO:0006266]; DNA ligation involved in DNA repair [GO:0051103]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; lagging strand elongation [GO:0006273]; mismatch repair [GO:0006298]; nucleotide-excision repair, DNA gap filling [GO:0006297]; Okazaki fragment processing involved in mitotic DNA replication [GO:1903461]; transcription-coupled nucleotide-excision repair [GO:0006283]

snps:
rs3730855 rs4987181 rs3730863 rs4987070 rs780748107 rs3730911 rs3730933 rs3730947 rs3730966 rs4987068 rs3730980 rs121434560 rs780324684 rs3731003 rs3731008 rs121434561 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P18858-1; Sequence=Displayed; Name=2; IsoId=P18858-2; Sequence=VSP_056139, VSP_056140; Note=No experimental confirmation available.; Name=3; IsoId=P18858-3; Sequence=VSP_057320, VSP_057321; Note=No experimental confirmation available.; 


uniprotID: P25686
geneSymbol: DNAJB2
pdb: 2LGW;
name: DnaJ homolog subfamily B member 2 (Heat shock 40 kDa protein 3) (Heat shock protein J1) (HSJ-1)
length: 324
go: ENSG00000135924;
snps: rs730882140 rs34127289
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of endoplasmic reticulum membrane [GO:0098554]; cytosol [GO:0005829]; extrinsic component of endoplasmic reticulum membrane [GO:0042406]; inclusion body [GO:0016234]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]; Hsp70 protein binding [GO:0030544]; polyubiquitin modification-dependent protein binding [GO:0031593]; proteasome binding [GO:0070628]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-dependent protein binding [GO:0140036]; unfolded protein binding [GO:0051082]; chaperone-mediated protein folding [GO:0061077]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of inclusion body assembly [GO:0090084]; negative regulation of protein binding [GO:0032091]; negative regulation of protein deubiquitination [GO:0090086]; neuron cellular homeostasis [GO:0070050]; positive regulation of ATPase activity [GO:0032781]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein refolding [GO:0042026]; regulation of chaperone-mediated protein folding [GO:1903644]; regulation of protein localization [GO:0032880]; regulation of protein ubiquitination [GO:0031396]; response to unfolded protein [GO:0006986]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HSJ1b {ECO:0000303|PubMed:1599432}; IsoId=P25686-3; Sequence=Displayed; Name=2; Synonyms=HSJ1a {ECO:0000303|PubMed:1599432}, DNAJB2a {ECO:0000303|PubMed:20889486}; IsoId=P25686-2; Sequence=VSP_001286, VSP_001287; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:12754272, ECO:0000269|PubMed:21625540}. Nucleus {ECO:0000269|PubMed:12754272}.; SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12754272}; Lipid-anchor {ECO:0000269|PubMed:12754272}; Cytoplasmic side {ECO:0000269|PubMed:12754272}.


uniprotID: O75953
geneSymbol: DNAJB5
length: 348
go: ENSG00000137094;
name:
DnaJ homolog subfamily B member 5 (Heat shock protein Hsp40-2) (Heat shock protein Hsp40-3) (Heat shock protein cognate 40) (Hsc40)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; unfolded protein binding [GO:0051082]; chaperone cofactor-dependent protein refolding [GO:0051085]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75953-3; Sequence=Displayed; Name=2; IsoId=O75953-4; Sequence=VSP_046223; Name=3; IsoId=O75953-5; Sequence=VSP_047250; Note=Gene prediction based on EST data.; 


uniprotID: O76062
geneSymbol: TM7SF2
reactome: R-HSA-191273;R-HSA-2426168;
length: 418
go: ENSG00000149809;
snps: rs11539360 rs1129195
name:
Delta(14)-sterol reductase (Delta-14-SR) (EC 1.3.1.70) (Another new gene 1 protein) (C-14 sterol reductase) (Putative sterol reductase SR-1) (Sterol C14-reductase) (Transmembrane 7 superfamily member 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nuclear inner membrane [GO:0005637]; receptor complex [GO:0043235]; delta14-sterol reductase activity [GO:0050613]; NADP binding [GO:0050661]; cholesterol biosynthetic process [GO:0006695]; regulation of cholesterol biosynthetic process [GO:0045540]; sterol biosynthetic process [GO:0016126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O76062-1; Sequence=Displayed; Name=2; IsoId=O76062-2; Sequence=VSP_017898; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:9878250}; Multi-pass membrane protein {ECO:0000269|PubMed:9878250}.


uniprotID: Q9UKR5
geneSymbol: ERG28
name: Probable ergosterol biosynthetic protein 28
length: 140
go: ENSG00000133935;
sequence:
MSRFLNVLRSWLVMVSIIAMGNTLQSFRDHTFLYEKLYTGKPNLVNGLQARTFGIWTLLSSVIRCLCAIDIHNKTLYHITLWTFLLALGHFLSELFVYGTAAPTIGVLAPLMVASFSILGMLVGLRYLEVEPVSRQKKRN

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; transport vesicle [GO:0030133]; protein binding, bridging [GO:0030674]; ergosterol biosynthetic process [GO:0006696]


uniprotID: Q96RQ1
geneSymbol: ERGIC2
name: Endoplasmic reticulum-Golgi intermediate compartment protein 2
length: 377
go: ENSG00000087502;
sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ER to Golgi vesicle-mediated transport [GO:0006888]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm. Nucleus. Note=Cycles between the endoplasmic reticulum and the Golgi. According to a report, localizes to the nucleus (PubMed:11445006). Another report shows a partial localization in the nucleus (PubMed:17980171). {ECO:0000269|PubMed:11445006, ECO:0000269|PubMed:17980171}.


uniprotID: Q9Y282
geneSymbol: ERGIC3
length: 383
go: ENSG00000125991;
snps: rs35505616
name:
Endoplasmic reticulum-Golgi intermediate compartment protein 3 (Serologically defined breast cancer antigen NY-BR-84)

sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; ER to Golgi vesicle-mediated transport [GO:0006888]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y282-1; Sequence=Displayed; Name=2; IsoId=Q9Y282-2; Sequence=VSP_008652, VSP_008653; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y282-3; Sequence=VSP_019208; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Note=Cycles between the endoplasmic reticulum and the Golgi.


uniprotID: A8K979
geneSymbol: ERI2
name: ERI1 exoribonuclease 2 (EC 3.1.-.-) (Exonuclease domain-containing protein 1)
length: 691
go: ENSG00000196678;
snps: rs997506328 rs2301770 rs17850670
sequence:

opentargets:
3'-5'-exoribonuclease activity [GO:0000175]; nucleic acid binding [GO:0003676]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A8K979-1; Sequence=Displayed; Name=2; IsoId=A8K979-2; Sequence=VSP_034077; Name=3; IsoId=A8K979-3; Sequence=VSP_034079, VSP_034080; Name=4; IsoId=A8K979-4; Sequence=VSP_034078, VSP_034081; 


uniprotID: Q9Y6K1
geneSymbol: DNMT3A
reactome: R-HSA-212300;R-HSA-3214858;R-HSA-4655427;R-HSA-5334118;
pdb: 2QRV;3A1A;3A1B;3LLR;3SVM;4QBQ;4QBR;4QBS;4U7P;4U7T;5YX2;6BRR;6F57;
length: 912
go: ENSG00000119772;
name:
DNA (cytosine-5)-methyltransferase 3A (Dnmt3a) (EC 2.1.1.37) (DNA methyltransferase HsaIIIA) (DNA MTase HsaIIIA) (M.HsaIIIA)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytoplasm [GO:0005737]; euchromatin [GO:0000791]; nuclear heterochromatin [GO:0005720]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; XY body [GO:0001741]; chromatin binding [GO:0003682]; DNA (cytosine-5-)-methyltransferase activity [GO:0003886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-methyltransferase activity [GO:0009008]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; aging [GO:0007568]; cellular response to amino acid stimulus [GO:0071230]; cellular response to ethanol [GO:0071361]; cellular response to hypoxia [GO:0071456]; DNA methylation [GO:0006306]; DNA methylation involved in embryo development [GO:0043045]; DNA methylation involved in gamete generation [GO:0043046]; hepatocyte apoptotic process [GO:0097284]; methylation-dependent chromatin silencing [GO:0006346]; mitotic cell cycle [GO:0000278]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; positive regulation of cell death [GO:0010942]; regulation of gene expression by genetic imprinting [GO:0006349]; response to cocaine [GO:0042220]; response to estradiol [GO:0032355]; response to ionizing radiation [GO:0010212]; response to lead ion [GO:0010288]; response to vitamin A [GO:0033189]; spermatogenesis [GO:0007283]

snps:
rs587777508 rs144062658 rs962805778 rs951361433 rs587777509 rs587777507 rs761064473 rs772368909 rs754613602 rs757823678 rs979932565 rs961377711 rs377577594 rs147001633 rs147001633 rs587777510 rs149095705 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6K1-1; Sequence=Displayed; Name=2; IsoId=Q9Y6K1-2; Sequence=VSP_046254; Note=It is uncertain whether Met-1 or Met-35 is the initiator.; Name=3; IsoId=Q9Y6K1-3; Sequence=VSP_040998, VSP_040999; Note=Produced by alternative splicing.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12145218}. Cytoplasm {ECO:0000269|PubMed:12145218}. Note=Accumulates in the major satellite repeats at pericentric heterochromatin. {ECO:0000250}.


uniprotID: Q5SXM8
geneSymbol: DNLZ
name: DNL-type zinc finger protein (Hsp70-escort protein 1) (HEP1) (mtHsp70-escort protein)
length: 178
go: ENSG00000213221;
snps: rs3812553 rs3812552
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23462535}.
sequence:
MLRTALRGAPRLLSRVQPRAPCLRRLWGRGARPEVAGRRRAWAWGWRRSSSEQGPGPAAALGRVEAAHYQLVYTCKVCGTRSSKRISKLAYHQGVVIVTCPGCQNHHIIADNLGWFSDLNGKRNIEEILTARGEQVHRVAGEGALELVLEAAGAPTSTAAPEAGEDEGPPSPGKTEPS

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; chaperone binding [GO:0051087]; zinc ion binding [GO:0008270]; protein folding [GO:0006457]; protein import into mitochondrial matrix [GO:0030150]; protein stabilization [GO:0050821]


uniprotID: Q9UBC3
geneSymbol: DNMT3B
reactome: R-HSA-212300;R-HSA-427413;R-HSA-4655427;R-HSA-5334118;
pdb: 3FLG;3QKJ;5CIU;5NR3;5NRR;5NRS;5NRV;5NV0;5NV2;5NV7;5NVO;
length: 853
go: ENSG00000088305;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11735126, ECO:0000269|PubMed:12145218}.
name:
DNA (cytosine-5)-methyltransferase 3B (Dnmt3b) (EC 2.1.1.37) (DNA methyltransferase HsaIIIB) (DNA MTase HsaIIIB) (M.HsaIIIB)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA (cytosine-5-)-methyltransferase activity [GO:0003886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-methyltransferase activity [GO:0009008]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to hyperoxia [GO:0071455]; DNA methylation [GO:0006306]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of histone H3-K9 methylation [GO:0051573]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of gene expression [GO:0010628]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of neuron differentiation [GO:0045666]; response to activity [GO:0014823]; response to caffeine [GO:0031000]; response to cocaine [GO:0042220]; response to estradiol [GO:0032355]; response to hypoxia [GO:0001666]; response to ionizing radiation [GO:0010212]; response to toxic substance [GO:0009636]; response to vitamin A [GO:0033189]

snps:
rs17123590 rs121908947 rs750849178 rs121908943 rs867732105 rs121908942 rs889145646 rs121908941 rs1191203668 rs1219696128 rs121908939 rs121908940 rs866792483 rs121908946 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9UBC3-1; Sequence=Displayed; Name=2; IsoId=Q9UBC3-2; Sequence=VSP_005637; Name=3; IsoId=Q9UBC3-3; Sequence=VSP_005637, VSP_005638; Name=4; IsoId=Q9UBC3-4; Sequence=VSP_005637, VSP_005639, VSP_005640; Name=5; IsoId=Q9UBC3-5; Sequence=VSP_005637, VSP_005641; Name=6; IsoId=Q9UBC3-6; Sequence=VSP_005636, VSP_005637; Name=7; IsoId=Q9UBC3-7; Sequence=VSP_045874, VSP_005637, VSP_045876; Note=No experimental confirmation available.; Name=8; IsoId=Q9UBC3-8; Sequence=VSP_045875, VSP_005637, VSP_045876; Note=No experimental confirmation available.; 


uniprotID: P49184
geneSymbol: DNASE1L1
reactome: R-HSA-6798695;
length: 302
go: ENSG00000013563;
snps: rs34952165
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:16107205}.
name:
Deoxyribonuclease-1-like 1 (EC 3.1.21.-) (DNase X) (Deoxyribonuclease I-like 1) (DNase I-like 1) (Muscle-specific DNase I-like) (XIB)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; deoxyribonuclease activity [GO:0004536]; deoxyribonuclease I activity [GO:0004530]; DNA binding [GO:0003677]; DNA catabolic process [GO:0006308]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA metabolic process [GO:0006259]; neutrophil degranulation [GO:0043312]


uniprotID: P13765
geneSymbol: HLA-DOB
reactome: R-HSA-2132295;
pdb: 4I0P;
name: HLA class II histocompatibility antigen, DO beta chain (MHC class II antigen DOB)
length: 273
go: ENSG00000241106;
snps: rs2071554 rs11575907 rs2070121 rs2621330
sequence:

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; MHC class II protein complex [GO:0042613]; MHC class II protein complex binding [GO:0023026]; MHC class II receptor activity [GO:0032395]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; negative regulation of antigen processing and presentation of peptide antigen via MHC class II [GO:0002587]

location:
SUBCELLULAR LOCATION: Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=Complexes with HLA-DM molecule during intracellular transport and in endosomal/lysosomal compartments. Heterotetramerization is necessary to exit the ER.


uniprotID: Q5JSL3
geneSymbol: DOCK11
reactome: R-HSA-983231;
length: 2073
go: ENSG00000147251;
snps: rs16995229
name:
Dedicator of cytokinesis protein 11 (Activated Cdc42-associated guanine nucleotide exchange factor) (ACG) (Zizimin-2)

sequence:

opentargets:
cytosol [GO:0005829]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; B cell homeostasis [GO:0001782]; blood coagulation [GO:0007596]; marginal zone B cell differentiation [GO:0002315]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of GTPase activity [GO:0043547]; small GTPase mediated signal transduction [GO:0007264]


uniprotID: Q14184
geneSymbol: DOC2B
name: Double C2-like domain-containing protein beta (Doc2-beta)
length: 412
go: ENSG00000272636;
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; syntaxin binding [GO:0019905]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of insulin secretion [GO:0032024]; positive regulation of vesicle fusion [GO:0031340]; protein localization [GO:0008104]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic granule {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Translocates to the plasma membrane in a calcium-dependent manner. {ECO:0000250}.


uniprotID: Q8TAM6
geneSymbol: ERMN
name: Ermin (Juxtanodin) (JN)
length: 284
go: ENSG00000136541;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; internode region of axon [GO:0033269]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; paranode region of axon [GO:0033270]; actin filament binding [GO:0051015]; actin filament organization [GO:0007015]; morphogenesis of a branching structure [GO:0001763]; regulation of cell projection organization [GO:0031344]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAM6-1; Sequence=Displayed; Name=2; IsoId=Q8TAM6-2; Sequence=VSP_036982; 


uniprotID: Q7Z2K6
geneSymbol: ERMP1
name: Endoplasmic reticulum metallopeptidase 1 (EC 3.4.-.-) (Felix-ina)
length: 904
go: ENSG00000099219;
snps: rs13284203
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z2K6-1; Sequence=Displayed; Name=2; IsoId=Q7Z2K6-2; Sequence=VSP_056121, VSP_056122; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q6UPR8}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8N1I0
geneSymbol: DOCK4
reactome: R-HSA-983231;
name: Dedicator of cytokinesis protein 4
length: 1966
go: ENSG00000128512;
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; stereocilium bundle [GO:0032421]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; PDZ domain binding [GO:0030165]; Rac GTPase binding [GO:0048365]; receptor tyrosine kinase binding [GO:0030971]; SH3 domain binding [GO:0017124]; cell chemotaxis [GO:0060326]; negative regulation of vascular smooth muscle contraction [GO:1904694]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; small GTPase mediated signal transduction [GO:0007264]

snps:
rs1396518456 rs12705801 rs2074130 rs3757650 rs3757651 rs150569245 rs10281942 rs369715294 rs12705795 rs199706346 rs34597439 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N1I0-1; Sequence=Displayed; Name=2; IsoId=Q8N1I0-2; Sequence=VSP_007703, VSP_007706; Note=No experimental confirmation available.; Name=3; IsoId=Q8N1I0-3; Sequence=VSP_007703; Note=No experimental confirmation available.; Name=4; IsoId=Q8N1I0-4; Sequence=VSP_007701, VSP_007705; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12628187}. Cell projection {ECO:0000269|PubMed:20679435}. Cytoplasm, cytosol {ECO:0000305|PubMed:20679435}. Note=Colocalizes with EPHA2, RhoG and CTTN/cortactin at the tip of protrusions in migrating cells. {ECO:0000269|PubMed:20679435}.


uniprotID: Q9H7D0
geneSymbol: DOCK5
reactome: R-HSA-983231;
name: Dedicator of cytokinesis protein 5
length: 1870
go: ENSG00000147459;
snps: rs17053341 rs2271111 rs2659585 rs35688737
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; negative regulation of vascular smooth muscle contraction [GO:1904694]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7D0-1; Sequence=Displayed; Name=2; IsoId=Q9H7D0-2; Sequence=VSP_021868; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19004829}. Cell membrane {ECO:0000269|PubMed:19004829}. Note=Associated with the edge of the plasma membrane in Caco-2 intestinal epithelial cells spreading on type IV collagen. {ECO:0000269|PubMed:19004829}.


uniprotID: Q9ULA0
geneSymbol: DNPEP
pdb: 4DYO;
name: Aspartyl aminopeptidase (EC 3.4.11.21)
length: 475
drug: DB00142;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9632644}.
sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; nucleus [GO:0005634]; aminopeptidase activity [GO:0004177]; identical protein binding [GO:0042802]; metalloaminopeptidase activity [GO:0070006]; zinc ion binding [GO:0008270]; peptide metabolic process [GO:0006518]


uniprotID: Q96N67
geneSymbol: DOCK7
reactome: R-HSA-8875555;R-HSA-983231;
name: Dedicator of cytokinesis protein 7
length: 2140
go: ENSG00000116641;
snps: rs35400360
sequence:

opentargets:
axon [GO:0030424]; basal part of cell [GO:0045178]; focal adhesion [GO:0005925]; growth cone [GO:0030426]; intracellular [GO:0005622]; neuron projection [GO:0043005]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rac GTPase binding [GO:0048365]; activation of GTPase activity [GO:0090630]; axonogenesis [GO:0007409]; establishment of neuroblast polarity [GO:0045200]; interkinetic nuclear migration [GO:0022027]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of cold-induced thermogenesis [GO:0120163]; neuron projection development [GO:0031175]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; regulation of neurogenesis [GO:0050767]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q96N67-1; Sequence=Displayed; Name=2; IsoId=Q96N67-2; Sequence=VSP_022240, VSP_007707; Name=3; IsoId=Q96N67-3; Sequence=VSP_012440, VSP_022240; Name=4; IsoId=Q96N67-4; Sequence=VSP_012440, VSP_022240, VSP_007707; Name=5; IsoId=Q96N67-5; Sequence=VSP_012440; Name=6; IsoId=Q96N67-6; Sequence=VSP_022240; Name=7; IsoId=Q96N67-7; Sequence=VSP_054534, VSP_054535; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, axon {ECO:0000269|PubMed:16982419}. Note=Enriched in the developing axons of hippocampal neurons.


uniprotID: Q8NF50
geneSymbol: DOCK8
reactome: R-HSA-983231;
name: Dedicator of cytokinesis protein 8
length: 2099
go: ENSG00000107099;
snps: rs529208 rs11789099 rs11789099 rs10970979 rs112321280 rs17673268 rs16937932 rs34908836
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium membrane [GO:0031258]; leading edge membrane [GO:0031256]; membrane [GO:0016020]; guanyl-nucleotide exchange factor activity [GO:0005085]; blood coagulation [GO:0007596]; cellular response to chemokine [GO:1990869]; dendritic cell migration [GO:0036336]; immunological synapse formation [GO:0001771]; memory T cell proliferation [GO:0061485]; negative regulation of T cell apoptotic process [GO:0070233]; positive regulation of establishment of T cell polarity [GO:1903905]; positive regulation of GTPase activity [GO:0043547]; positive regulation of T cell migration [GO:2000406]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NF50-1; Sequence=Displayed; Name=2; IsoId=Q8NF50-2; Sequence=VSP_027373; Note=No experimental confirmation available.; Name=3; IsoId=Q8NF50-3; Sequence=VSP_039838; Name=4; IsoId=Q8NF50-4; Sequence=VSP_039838, VSP_027373; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28028151}. Cell membrane {ECO:0000269|PubMed:28028151}; Peripheral membrane protein {ECO:0000305|PubMed:28028151}; Cytoplasmic side {ECO:0000305}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:28028151}; Peripheral membrane protein {ECO:0000305|PubMed:28028151}; Cytoplasmic side {ECO:0000305}. Note=Enriched and co-localizes with GTPase CDC42 at the immunological synapse formed during T cell/antigen presenting cell cognate interaction. Translocates from the cytoplasm to the plasma membrane in response to chemokine CXCL12/SDF-1-alpha stimulation. {ECO:0000269|PubMed:28028151}.


uniprotID: Q9BZ29
geneSymbol: DOCK9
reactome: R-HSA-983231;
pdb: 1WG7;2WM9;2WMN;2WMO;
name: Dedicator of cytokinesis protein 9 (Cdc42 guanine nucleotide exchange factor zizimin-1) (Zizimin-1)
length: 2069
go: ENSG00000088387;
snps: rs56010605 rs16955934
sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; membrane [GO:0016020]; cadherin binding [GO:0045296]; guanyl-nucleotide exchange factor activity [GO:0005085]; blood coagulation [GO:0007596]; positive regulation of GTPase activity [GO:0043547]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BZ29-1; Sequence=Displayed; Name=2; IsoId=Q9BZ29-5; Sequence=VSP_017128; Name=3; IsoId=Q9BZ29-3; Sequence=VSP_004024; Note=No experimental confirmation available.; Name=4; IsoId=Q9BZ29-4; Sequence=VSP_007709, VSP_007710; Note=Produced by exon skipping that results in a frameshift. No experimental confirmation available.; Name=5; IsoId=Q9BZ29-6; Sequence=VSP_017128, VSP_045683, VSP_045684; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000305}. Note=Associated with membranes. {ECO:0000305}.


uniprotID: Q7L591
geneSymbol: DOK3
reactome: R-HSA-6798695;
name: Docking protein 3 (Downstream of tyrosine kinase 3)
length: 496
go: ENSG00000146094;
snps: rs3749728 rs41275297
sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; neutrophil degranulation [GO:0043312]; Ras protein signal transduction [GO:0007265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7L591-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q7L591-2; Sequence=VSP_013713, VSP_013715, VSP_013716; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q7L591-3; Sequence=VSP_013712, VSP_013715, VSP_013716; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q7L591-4; Sequence=VSP_013712, VSP_013714, VSP_013715, VSP_013716; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: Q8NEU8
geneSymbol: APPL2
pdb: 4H8S;5C5B;
length: 664
go: ENSG00000136044;
snps: rs2272495
name:
DCC-interacting protein 13-beta (Dip13-beta) (Adapter protein containing PH domain, PTB domain and leucine zipper motif 2)

sequence:

opentargets:
early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; protein-containing complex binding [GO:0044877]; cell cycle [GO:0007049]; cell proliferation [GO:0008283]; signal transduction [GO:0007165]; signaling [GO:0023052]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEU8-1; Sequence=Displayed; Name=2; IsoId=Q8NEU8-2; Sequence=VSP_044771; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEU8-3; Sequence=VSP_044772; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:15016378}; Peripheral membrane protein {ECO:0000269|PubMed:15016378}. Nucleus {ECO:0000269|PubMed:15016378}. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF.


uniprotID: Q86YN1
geneSymbol: DOLPP1
reactome: R-HSA-446199;
name: Dolichyldiphosphatase 1 (EC 3.6.1.43) (Dolichyl pyrophosphate phosphatase 1)
length: 238
go: ENSG00000167130;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; dolichyldiphosphatase activity [GO:0047874]; dolichyl diphosphate biosynthetic process [GO:0006489]; lipid biosynthetic process [GO:0008610]; protein N-linked glycosylation [GO:0006487]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YN1-1; Sequence=Displayed; Name=2; IsoId=Q86YN1-2; Sequence=VSP_042210; 


uniprotID: A0A0U1RQF7
geneSymbol: DPEP2NB
name: DPEP2 neighbor protein
length: 123
sequence:
MTDRILYIVSNMSSVPWEGSAAAAVPATSPPTPGHYHVLYRGCGETQVGWHGETYCLVGGYRVHGDAPLATPTKAEAEKPAPRRAPKRRQATIESDKDLGCSSPKIRRLEHRGRRLTPQKLAG


uniprotID: Q9H4B8
geneSymbol: DPEP3
reactome: R-HSA-2142691;R-HSA-5423646;
name: Dipeptidase 3 (EC 3.4.13.19)
length: 488
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; anchored component of membrane [GO:0031225]; plasma membrane [GO:0005886]; dipeptidase activity [GO:0016805]; dipeptidyl-peptidase activity [GO:0008239]; metal ion binding [GO:0046872]; metalloexopeptidase activity [GO:0008235]; male meiotic nuclear division [GO:0007140]


uniprotID: Q9H4G8
geneSymbol: DPH3P1
name: Putative DPH3 homolog B (CSL-type zinc finger-containing protein 1)
sequence: MAVFHDEVEIEDFQYDEDSETYFCPCPCGDNFSITKEELENGEGVAMCPGCSLIIKVIYDKDQFACGETVPVPSVNKE
length: 78
opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]; tRNA wobble uridine modification [GO:0002098]


uniprotID: P11474
geneSymbol: ESRRA
reactome: R-HSA-1989781;R-HSA-2151201;R-HSA-383280;R-HSA-8939902;
pdb: 1XB7;2PJL;3D24;3K6P;
length: 423
go: ENSG00000173153;
drug: DB06833;DB00197;
name:
Steroid hormone receptor ERR1 (Estrogen receptor-like 1) (Estrogen-related receptor alpha) (ERR-alpha) (Nuclear receptor subfamily 3 group B member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; cartilage development [GO:0051216]; mitochondrion organization [GO:0007005]; positive regulation of cellular response to insulin stimulus [GO:1900078]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell proliferation [GO:0042127]; regulation of osteoblast differentiation [GO:0045667]; regulation of osteoclast differentiation [GO:0045670]; regulation of transcription, DNA-templated [GO:0006355]; response to estradiol [GO:0032355]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11474-1; Sequence=Displayed; Name=2; IsoId=P11474-2; Sequence=VSP_035756; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:18063693, ECO:0000269|PubMed:21190936}. Cytoplasm {ECO:0000269|PubMed:21190936}. Note=Co-localizes to the cytoplasm only in presence of MAPK15. {ECO:0000269|PubMed:21190936}.


uniprotID: P62508
geneSymbol: ESRRG
reactome: R-HSA-383280;
pdb: 1KV6;1TFC;1VJB;2E2R;2EWP;2GP7;2GPO;2GPP;2GPU;2GPV;2P7A;2P7G;2P7Z;2ZAS;2ZBS;2ZKC;
length: 458
go: ENSG00000196482;
drug: DB06902;DB06884;DB04468;DB02659;DB00255;DB00197;
snps: rs11572693
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Estrogen-related receptor gamma (ERR gamma-2) (Estrogen receptor-related protein 3) (Nuclear receptor subfamily 3 group B member 3)

sequence:

opentargets:
nucleoplasm [GO:0005654]; AF-2 domain binding [GO:0050682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; retinoic acid receptor activity [GO:0003708]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Long; IsoId=P62508-1, O75454-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P62508-2, O75454-2; Sequence=VSP_003702; Name=3; IsoId=P62508-3; Sequence=VSP_003702, VSP_013301; Name=4; IsoId=P62508-4; Sequence=VSP_003702, VSP_045980; Note=No experimental confirmation available.; Name=5; IsoId=P62508-5; Sequence=VSP_047156, VSP_013301; Note=Gene prediction based on EST data.; 


uniprotID: O94777
geneSymbol: DPM2
reactome: R-HSA-162699;R-HSA-162710;R-HSA-4719377;
sequence: MATGTDQVVGLGLVAVSLIIFTYYTAWVILLPFIDSQHVIHKYFLPRAYAVAIPLAAGLLLLLFVGLFISYVMLKTKRVTKKAQ
length: 84
go: ENSG00000136908;
snps: rs397514503 rs7997
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
Dolichol phosphate-mannose biosynthesis regulatory protein (Dolichol-phosphate mannose synthase subunit 2) (DPM synthase subunit 2)

opentargets:
dolichol-phosphate-mannose synthase complex [GO:0033185]; endoplasmic reticulum membrane [GO:0005789]; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex [GO:0000506]; integral component of endoplasmic reticulum membrane [GO:0030176]; enzyme regulator activity [GO:0030234]; dolichol metabolic process [GO:0019348]; GPI anchor biosynthetic process [GO:0006506]; preassembly of GPI anchor in ER membrane [GO:0016254]; protein O-linked mannosylation [GO:0035269]; regulation of protein stability [GO:0031647]


uniprotID: P56282
geneSymbol: POLE2
pdb: 2V6Z;5VBN;
length: 527
go: ENSG00000100479;
drug: DB00242;
snps: rs34857719 rs34574266 rs45515094
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-110314;R-HSA-174430;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-68952;R-HSA-68962;

name:
DNA polymerase epsilon subunit 2 (EC 2.7.7.7) (DNA polymerase II subunit 2) (DNA polymerase epsilon subunit B)

sequence:

opentargets:
epsilon DNA polymerase complex [GO:0008622]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA-dependent DNA replication [GO:0006261]; error-prone translesion synthesis [GO:0042276]; G1/S transition of mitotic cell cycle [GO:0000082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P56282-1; Sequence=Displayed; Name=2; IsoId=P56282-2; Sequence=VSP_042551; Note=No experimental confirmation available.; Name=3; IsoId=P56282-3; Sequence=VSP_043796; 


uniprotID: Q9NRF9
geneSymbol: POLE3
length: 147
go: ENSG00000148229;
drug: DB00242;
snps: rs36023979 rs34852828 rs35933626
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-110314;R-HSA-174430;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-68952;R-HSA-68962;

name:
DNA polymerase epsilon subunit 3 (EC 2.7.7.7) (Arsenic-transactivated protein) (AsTP) (Chromatin accessibility complex 17 kDa protein) (CHRAC-17) (HuCHRAC17) (DNA polymerase II subunit 3) (DNA polymerase epsilon subunit p17)

sequence:
MAERPEDLNLPNAVITRIIKEALPDGVNISKEARSAISRAASVFVLYATSCANNFAMKGKRKTLNASDVLSAMEEMEFQRFVTPLKEALEAYRREQKGKKEASEQKKKDKDKKTDSEEQDKSRDEDNDEDEERLEEEEQNEEEEVDN

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; epsilon DNA polymerase complex [GO:0008622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; protein heterodimerization activity [GO:0046982]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; CENP-A containing nucleosome assembly [GO:0034080]; DNA replication [GO:0006260]; G1/S transition of mitotic cell cycle [GO:0000082]; heterochromatin assembly involved in chromatin silencing [GO:0070869]; histone H3 acetylation [GO:0043966]; nucleosome mobilization [GO:0042766]


uniprotID: P03372
geneSymbol: ESR1
length: 595
go: ENSG00000091831;
snps: rs139960913 rs9340773 rs149308960 rs397509428 rs1131692059
reactome:
R-HSA-1251985;R-HSA-1257604;R-HSA-2219530;R-HSA-383280;R-HSA-4090294;R-HSA-5689896;R-HSA-6811558;R-HSA-8866910;R-HSA-8931987;R-HSA-8939211;R-HSA-8939256;R-HSA-8939902;R-HSA-9018519;

pdb:
1A52;1AKF;1ERE;1ERR;1G50;1GWQ;1GWR;1HCP;1HCQ;1L2I;1PCG;1QKT;1QKU;1R5K;1SJ0;1UOM;1X7E;1X7R;1XP1;1XP6;1XP9;1XPC;1XQC;1YIM;1YIN;1ZKY;2AYR;2B1V;2B1Z;2B23;2BJ4;2FAI;2G44;2G5O;2I0J;2IOG;2IOK;2JF9;2JFA;2LLO;2LLQ;2OCF;2OUZ;2P15;2POG;2Q6J;2Q70;2QA6;2QA8;2QAB;2QE4;2QGT;2QGW;2QH6;2QR9;2QSE;2QXM;2QXS;2QZO;2R6W;2R6Y;2YAT;2YJA;3CBM;3CBO;3CBP;3DT3;3ERD;3ERT;3HLV;3HM1;3L03;3OS8;3OS9;3OSA;3Q95;3UU7;3UUA;3UUC;3UUD;4AA6;4DMA;4IU7;4IUI;4IV2;4IV4;4IVW;4IVY;4IW6;4IW8;4IWC;4IWF;4JC3;4JDD;4MG5;4MG6;4MG7;4MG8;4MG9;4MGA;4MGB;4MGC;4MGD;4O6F;4PP6;4PPP;4PPS;4PXM;4Q13;4Q50;4TUZ;4TV1;4XI3;4ZN7;4ZN9;4ZNH;4ZNS;4ZNT;4ZNU;4ZNV;4ZNW;5AAU;5AAV;5ACC;5AK2;5DI7;5DID;5DIE;5DIG;5DK9;5DKB;5DKE;5DKG;5DKS;5DL4;5DLR;5DMC;5DMF;5DP0;5DRJ;5DRM;5DTV;5DU5;5DUE;5DUG;5DUH;5DVS;5DVV;5DWE;5DWG;5DWI;5DWJ;5DX3;5DXB;5DXE;5DXG;5DXK;5DXM;5DXP;5DXQ;5DXR;5DY8;5DYB;5DYD;5DZ0;5DZ1;5DZ3;5DZH;5DZI;5E0W;5E0X;5E14;5E15;5E19;5E1C;5EGV;5EHJ;5EI1;5EIT;5FQP;5FQR;5FQS;5FQT;5FQV;5GS4;5GTR;5HYR;5JMM;5KCC;5KCD;5KCE;5KCF;5KCT;5KCU;5KCW;5KD9;5KR9;5KRA;5KRC;5KRF;5KRH;5KRI;5KRJ;5KRK;5KRL;5KRM;5KRO;5N10;5T0X;5T1Z;5T92;5T97;5TLD;5TLF;5TLG;5TLL;5TLM;5TLO;5TLP;5TLT;5TLU;5TLV;5TLX;5TLY;5TM1;5TM2;5TM3;5TM4;5TM5;5TM6;5TM7;5TM8;5TM9;5TML;5TMM;5TMO;5TMQ;5TMR;5TMS;5TMT;5TMU;5TMV;5TMW;5TMZ;5TN1;5TN3;5TN4;5TN5;5TN6;5TN7;5TN8;5TN9;5TNB;5U2B;5U2D;5UFW;5UFX;5W9C;5W9D;5WGD;5WGQ;6B0F;6C42;6CBZ;6CHW;6CHZ;

name:
Estrogen receptor (ER) (ER-alpha) (Estradiol receptor) (Nuclear receptor subfamily 3 group A member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; transcriptional preinitiation complex [GO:0097550]; transcriptionally active chromatin [GO:0035327]; ATPase binding [GO:0051117]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; estrogen receptor activity [GO:0030284]; estrogen receptor binding [GO:0030331]; estrogen response element binding [GO:0034056]; identical protein binding [GO:0042802]; nitric-oxide synthase regulator activity [GO:0030235]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding [GO:0038052]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; TBP-class protein binding [GO:0017025]; TFIIB-class transcription factor binding [GO:0001093]; transcription coactivator binding [GO:0001223]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; androgen metabolic process [GO:0008209]; antral ovarian follicle growth [GO:0001547]; cellular response to estradiol stimulus [GO:0071392]; cellular response to estrogen stimulus [GO:0071391]; chromatin remodeling [GO:0006338]; epithelial cell development [GO:0002064]; epithelial cell proliferation involved in mammary gland duct elongation [GO:0060750]; intracellular estrogen receptor signaling pathway [GO:0030520]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; male gonad development [GO:0008584]; mammary gland alveolus development [GO:0060749]; mammary gland branching involved in pregnancy [GO:0060745]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of gene expression [GO:0010629]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903799]; negative regulation of transcription by RNA polymerase II [GO:0000122]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045899]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis [GO:0060527]; prostate epithelial cord elongation [GO:0060523]; protein deubiquitination [GO:0016579]; protein localization to chromatin [GO:0071168]; regulation of apoptotic process [GO:0042981]; regulation of branching involved in prostate gland morphogenesis [GO:0060687]; regulation of inflammatory response [GO:0050727]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; regulation of toll-like receptor signaling pathway [GO:0034121]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; regulation of Wnt signaling pathway [GO:0030111]; response to estradiol [GO:0032355]; response to estrogen [GO:0043627]; signal transduction [GO:0007165]; stem cell differentiation [GO:0048863]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription, DNA-templated [GO:0006351]; uterus development [GO:0060065]; vagina development [GO:0060068]

drug:
DB06871;DB07708;DB07712;DB06927;DB04468;DB01431;DB05233;DB05338;DB06401;DB05487;DB05882;DB00269;DB00882;DB02715;DB02615;DB03742;DB00286;DB01406;DB00304;DB00890;DB00255;DB00783;DB01196;DB04573;DB00655;DB04574;DB00977;DB00823;DB00294;DB01185;DB00947;DB01645;DB06202;DB00367;DB00603;DB01065;DB01357;DB07991;DB01183;DB00957;DB05662;DB04938;DB01708;DB00396;DB04575;DB00481;DB08773;DB00675;DB09070;DB00539;DB01108;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long, hER-alpha66, ER66; IsoId=P03372-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P03372-2; Sequence=VSP_003680; Note=No experimental confirmation available.; Name=3; Synonyms=hER-alpha46, ER46; IsoId=P03372-3; Sequence=VSP_042460; Note=Produced by alternative promoter usage.; Name=4; Synonyms=hER-alpha36, ER36; IsoId=P03372-4; Sequence=VSP_042460, VSP_042461; Note=Produced by alternative splicing of isoform 3.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:12682286, ECO:0000269|PubMed:20074560}. Cytoplasm {ECO:0000269|PubMed:12682286}. Cell membrane {ECO:0000269|PubMed:12682286}; Peripheral membrane protein {ECO:0000269|PubMed:12682286}; Cytoplasmic side {ECO:0000269|PubMed:12682286}. Note=A minor fraction is associated with the inner membrane.; SUBCELLULAR LOCATION: Isoform 3: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Single-pass type I membrane protein. Note=Associated with the inner membrane via palmitoylation (Probable). At least a subset exists as a transmembrane protein with a N-terminal extracellular domain. {ECO:0000305}.; SUBCELLULAR LOCATION: Nucleus. Golgi apparatus. Cell membrane. Note=Colocalizes with ZDHHC7 and ZDHHC21 in the Golgi apparatus where most probably palmitoylation occurs. Associated with the plasma membrane when palmitoylated.


uniprotID: Q8N608
geneSymbol: DPP10
pdb: 4WJL;
length: 796
go: ENSG00000175497;
snps: rs2053724 rs1446495 rs13421193
name:
Inactive dipeptidyl peptidase 10 (Dipeptidyl peptidase IV-related protein 3) (DPRP-3) (Dipeptidyl peptidase X) (DPP X) (Dipeptidyl peptidase-like protein 2) (DPL2)

sequence:

opentargets:
membrane [GO:0016020]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; serine-type peptidase activity [GO:0008236]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein localization to plasma membrane [GO:0072659]; regulation of potassium ion transmembrane transport [GO:1901379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist, which may have different subcellular locations.; Name=1; IsoId=Q8N608-1; Sequence=Displayed; Name=2; IsoId=Q8N608-2; Sequence=VSP_013873; Name=3; IsoId=Q8N608-3; Sequence=VSP_044466; Name=4; IsoId=Q8N608-4; Sequence=VSP_047152; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q6NXK7, ECO:0000269|PubMed:14566338}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:P42658}.


uniprotID: A6NC42
geneSymbol: DPPA5
length: 116
go: ENSG00000203909;
opentargets: cytoplasm [GO:0005737]; RNA binding [GO:0003723]; multicellular organism development [GO:0007275]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Developmental pluripotency-associated 5 protein (hDPPA5) (Embryonal stem cell-specific gene 1 protein) (ESG-1)

sequence:
MGTLPARRHIPPWVKVPEDLKDPEVFQVQTRLLKAIFGPDGSRIPYIEQVSKAMLELKALESSDLTEVVVYGSYLYKLRTKWMLQSMAEWHRQRQERGMLKLAEAMNALELGPWMK


uniprotID: Q6NXG1
geneSymbol: ESRP1
reactome: R-HSA-6802952;R-HSA-6803529;
pdb: 2DHA;2RVJ;
name: Epithelial splicing regulatory protein 1 (RNA-binding motif protein 35A) (RNA-binding protein 35A)
length: 681
go: ENSG00000104413;
snps: rs2303454
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19285943}.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; fibroblast growth factor receptor signaling pathway [GO:0008543]; mRNA processing [GO:0006397]; regulation of inner ear auditory receptor cell fate specification [GO:0042669]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6NXG1-1; Sequence=Displayed; Name=2; IsoId=Q6NXG1-2; Sequence=VSP_022465, VSP_022466; Name=3; IsoId=Q6NXG1-3; Sequence=VSP_022464; Note=No experimental confirmation available.; Name=4; IsoId=Q6NXG1-4; Sequence=VSP_022467; Note=No experimental confirmation available.; Name=5; IsoId=Q6NXG1-5; Sequence=VSP_022464, VSP_022467; Note=No experimental confirmation available.; 


uniprotID: Q7L190
geneSymbol: DPPA4
reactome: R-HSA-2892247;
name: Developmental pluripotency-associated protein 4
length: 304
go: ENSG00000121570;
snps: rs3762648 rs3905734
sequence:

opentargets:
nucleoplasm [GO:0005654]; multicellular organism development [GO:0007275]; somatic stem cell population maintenance [GO:0035019]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CCG4}. Note=Associated with transcriptionally active chromatin. {ECO:0000250|UniProtKB:Q8CCG4}.


uniprotID: Q8IXS2
geneSymbol: CCDC65
length: 484
go: ENSG00000139537;
snps: rs10747556 rs4760600
name:
Dynein regulatory complex subunit 2 (Coiled-coil domain-containing protein 65) (Testis development protein NYD-SP28)

sequence:

opentargets:
axoneme [GO:0005930]; motile cilium [GO:0031514]; axonemal dynein complex assembly [GO:0070286]; cilium assembly [GO:0060271]; cilium-dependent cell motility [GO:0060285]; regulation of cilium movement [GO:0003352]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXS2-1; Sequence=Displayed; Name=2; IsoId=Q8IXS2-2; Sequence=VSP_024644; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum basal body {ECO:0000250|UniProtKB:A8JB22}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:A8JB22}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8JB22}.


uniprotID: P14416
geneSymbol: DRD2
reactome: R-HSA-390651;R-HSA-418594;
pdb: 1I15;5AER;6CM4;
name: D(2) dopamine receptor (Dopamine D2 receptor)
length: 443
go: ENSG00000149295;
snps: rs104894220 rs1800496 rs1801028 rs71653614
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; axon [GO:0030424]; axon terminus [GO:0043679]; ciliary membrane [GO:0060170]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; dopaminergic synapse [GO:0098691]; endocytic vesicle [GO:0030139]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; intracellular [GO:0005622]; lateral plasma membrane [GO:0016328]; non-motile cilium [GO:0097730]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; sperm flagellum [GO:0036126]; synaptic vesicle membrane [GO:0030672]; adrenergic receptor activity [GO:0004935]; dopamine binding [GO:0035240]; dopamine neurotransmitter receptor activity, coupled via Gi/Go [GO:0001591]; drug binding [GO:0008144]; identical protein binding [GO:0042802]; ionotropic glutamate receptor binding [GO:0035255]; potassium channel regulator activity [GO:0015459]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; activation of protein kinase activity [GO:0032147]; adenohypophysis development [GO:0021984]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:0007195]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; adult walking behavior [GO:0007628]; arachidonic acid secretion [GO:0050482]; associative learning [GO:0008306]; auditory behavior [GO:0031223]; autophagy [GO:0006914]; axonogenesis [GO:0007409]; behavioral response to cocaine [GO:0048148]; behavioral response to ethanol [GO:0048149]; branching morphogenesis of a nerve [GO:0048755]; cellular calcium ion homeostasis [GO:0006874]; cerebral cortex GABAergic interneuron migration [GO:0021853]; circadian regulation of gene expression [GO:0032922]; dopamine metabolic process [GO:0042417]; drinking behavior [GO:0042756]; excitatory postsynaptic potential [GO:0060079]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; grooming behavior [GO:0007625]; intracellular signal transduction [GO:0035556]; locomotory behavior [GO:0007626]; long-term memory [GO:0007616]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of blood pressure [GO:0045776]; negative regulation of cell death [GO:0060548]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of circadian sleep/wake cycle, sleep [GO:0042321]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; negative regulation of dopamine receptor signaling pathway [GO:0060160]; negative regulation of dopamine secretion [GO:0033602]; negative regulation of innate immune response [GO:0045824]; negative regulation of insulin secretion [GO:0046676]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein secretion [GO:0050709]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; neurological system process involved in regulation of systemic arterial blood pressure [GO:0001976]; neuron-neuron synaptic transmission [GO:0007270]; orbitofrontal cortex development [GO:0021769]; peristalsis [GO:0030432]; phospholipase C-activating dopamine receptor signaling pathway [GO:0060158]; pigmentation [GO:0043473]; positive regulation of cytokinesis [GO:0032467]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of dopamine uptake involved in synaptic transmission [GO:0051586]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; positive regulation of glial cell-derived neurotrophic factor secretion [GO:1900168]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of receptor internalization [GO:0002092]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of urine volume [GO:0035810]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; prepulse inhibition [GO:0060134]; protein localization [GO:0008104]; regulation of dopamine uptake involved in synaptic transmission [GO:0051584]; regulation of heart rate [GO:0002027]; regulation of locomotion involved in locomotory behavior [GO:0090325]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of phosphoprotein phosphatase activity [GO:0043666]; regulation of potassium ion transport [GO:0043266]; regulation of sodium ion transport [GO:0002028]; regulation of synapse structural plasticity [GO:0051823]; regulation of synaptic transmission, GABAergic [GO:0032228]; regulation of synaptic vesicle exocytosis [GO:2000300]; release of sequestered calcium ion into cytosol [GO:0051209]; response to amphetamine [GO:0001975]; response to axon injury [GO:0048678]; response to cocaine [GO:0042220]; response to drug [GO:0042493]; response to histamine [GO:0034776]; response to hypoxia [GO:0001666]; response to inactivity [GO:0014854]; response to iron ion [GO:0010039]; response to light stimulus [GO:0009416]; response to morphine [GO:0043278]; response to nicotine [GO:0035094]; sensory perception of smell [GO:0007608]; striatum development [GO:0021756]; synapse assembly [GO:0007416]; synaptic transmission, dopaminergic [GO:0001963]; temperature homeostasis [GO:0001659]; visual learning [GO:0008542]; Wnt signaling pathway [GO:0016055]

drug:
DB01614;DB01063;DB05766;DB01425;DB00915;DB06288;DB00543;DB00182;DB04599;DB00714;DB01238;DB09207;DB06216;DB04889;DB04888;DB05687;DB04857;DB09128;DB01200;DB09018;DB00490;DB00248;DB06016;DB01038;DB00477;DB01239;DB00568;DB00363;DB01151;DB01184;DB00988;DB01142;DB00450;DB01049;DB00696;DB00875;DB00623;DB04842;DB00502;DB04946;DB00458;DB05816;DB04924;DB01221;DB01235;DB00589;DB00408;DB06077;DB08815;DB00934;DB01043;DB00933;DB01403;DB01233;DB06148;DB00805;DB00370;DB01618;DB00540;DB00334;DB01267;DB01186;DB00850;DB05316;DB01100;DB01621;DB00413;DB00433;DB00420;DB01069;DB00777;DB01224;DB00409;DB00734;DB01549;DB00268;DB05271;DB06144;DB05280;DB00391;DB04844;DB00372;DB01622;DB00679;DB01623;DB13025;DB00831;DB00508;DB00726;DB01392;DB00246;DB01624;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=D2(Long); IsoId=P14416-1; Sequence=Displayed; Name=2; Synonyms=D2(Short); IsoId=P14416-2; Sequence=VSP_001870; Name=3; Synonyms=D2(Longer); IsoId=P14416-3; Sequence=VSP_026455; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21645528}; Multi-pass membrane protein {ECO:0000269|PubMed:21645528}.


uniprotID: P35462
geneSymbol: DRD3
reactome: R-HSA-390651;R-HSA-418594;
pdb: 3PBL;
name: D(3) dopamine receptor (Dopamine D3 receptor)
length: 400
snps: rs6280
sequence:

opentargets:
apical part of cell [GO:0045177]; cell projection [GO:0042995]; dopaminergic synapse [GO:0098691]; endocytic vesicle [GO:0030139]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; adrenergic receptor activity [GO:0004935]; D1 dopamine receptor binding [GO:0031748]; dopamine binding [GO:0035240]; dopamine neurotransmitter receptor activity, coupled via Gi/Go [GO:0001591]; drug binding [GO:0008144]; protein domain specific binding [GO:0019904]; acid secretion [GO:0046717]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:0007195]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; arachidonic acid secretion [GO:0050482]; autophagy [GO:0006914]; behavioral response to cocaine [GO:0048148]; cellular calcium ion homeostasis [GO:0006874]; circadian regulation of gene expression [GO:0032922]; dopamine metabolic process [GO:0042417]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; gastric emptying [GO:0035483]; learning [GO:0007612]; learning or memory [GO:0007611]; locomotory behavior [GO:0007626]; musculoskeletal movement, spinal reflex action [GO:0050883]; negative regulation of apoptotic process [GO:0043066]; negative regulation of blood pressure [GO:0045776]; negative regulation of dopamine receptor signaling pathway [GO:0060160]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein secretion [GO:0050709]; negative regulation of sodium:proton antiporter activity [GO:0032416]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokinesis [GO:0032467]; positive regulation of dopamine receptor signaling pathway [GO:0060161]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prepulse inhibition [GO:0060134]; regulation of blood volume by renin-angiotensin [GO:0002016]; regulation of circadian sleep/wake cycle, sleep [GO:0045187]; regulation of dopamine secretion [GO:0014059]; regulation of dopamine uptake involved in synaptic transmission [GO:0051584]; regulation of lipid metabolic process [GO:0019216]; regulation of locomotion involved in locomotory behavior [GO:0090325]; regulation of multicellular organism growth [GO:0040014]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; response to amphetamine [GO:0001975]; response to cocaine [GO:0042220]; response to drug [GO:0042493]; response to histamine [GO:0034776]; response to morphine [GO:0043278]; social behavior [GO:0035176]; synaptic transmission, dopaminergic [GO:0001963]; visual learning [GO:0008542]

drug:
DB05766;DB06288;DB00543;DB00714;DB01238;DB09207;DB06216;DB01200;DB00248;DB09014;DB06016;DB00477;DB01239;DB00363;DB01184;DB00988;DB00502;DB04946;DB01235;DB00589;DB00408;DB01403;DB06148;DB00370;DB00334;DB01267;DB01186;DB01100;DB00413;DB01224;DB00409;DB00734;DB00268;DB05271;DB05280;DB00391;DB13025;DB01392;DB00246;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=D3; IsoId=P35462-1; Sequence=Displayed; Name=3; IsoId=P35462-3; Sequence=VSP_040570; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19520868}; Multi-pass membrane protein {ECO:0000269|PubMed:19520868}. Note=Both membrane-bound and scattered in the cytoplasm during basal conditions. Receptor stimulation results in the rapid internalization and sequestration of the receptors at the perinuclear area (5 and 15 minutes), followed by the dispersal of the receptors to the membrane (30 minutes). DRD3 and GRK4 co-localize in lipid rafts of renal proximal tubule cells.


uniprotID: P14921
geneSymbol: ETS1
reactome: R-HSA-2559585;
name: Protein C-ets-1 (p54)
length: 441
go: ENSG00000134954;
pdb:
1GVJ;2NNY;2STT;2STW;3MFK;3RI4;3WTS;3WTT;3WTU;3WTV;3WTW;3WTX;3WTY;3WTZ;3WU0;3WU1;4L0Y;4L0Z;4L18;4LG0;5ZMC;

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; identical protein binding [GO:0042802]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription factor binding [GO:0008134]; angiogenesis involved in wound healing [GO:0060055]; cell differentiation [GO:0030154]; cell motility [GO:0048870]; cellular response to hydrogen peroxide [GO:0070301]; estrous cycle [GO:0044849]; female pregnancy [GO:0007565]; hypothalamus development [GO:0021854]; immune response [GO:0006955]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell proliferation [GO:0008285]; negative regulation of inflammatory response [GO:0050728]; pituitary gland development [GO:0021983]; PML body organization [GO:0030578]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular component movement [GO:0051272]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gene expression [GO:0010628]; positive regulation of inflammatory response [GO:0050729]; positive regulation of leukocyte adhesion to vascular endothelial cell [GO:1904996]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of angiogenesis [GO:0045765]; regulation of apoptotic process [GO:0042981]; regulation of extracellular matrix disassembly [GO:0010715]; regulation of transcription by RNA polymerase II [GO:0006357]; response to antibiotic [GO:0046677]; response to estradiol [GO:0032355]; response to hypoxia [GO:0001666]; response to interleukin-1 [GO:0070555]; response to laminar fluid shear stress [GO:0034616]; response to mechanical stimulus [GO:0009612]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=c-ETS-1A; Synonyms=Ets-1 p51; IsoId=P14921-1; Sequence=Displayed; Name=c-ETS-1B; Synonyms=Ets-1 p42; IsoId=P14921-2; Sequence=VSP_001464; Name=3; IsoId=P14921-3; Sequence=VSP_043152; Note=No experimental confirmation available.; Name=Ets-1 p27; Synonyms=Ets-1Delta(III-VI); IsoId=P14921-4; Sequence=VSP_046056; Note=Acts as a dominant-negative for isoform c-ETS-1A.; Name=5; IsoId=P14921-5; Sequence=VSP_055485, VSP_055486; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19377509}. Nucleus {ECO:0000269|PubMed:11909962, ECO:0000269|PubMed:19377509}. Note=Delocalizes from nucleus to cytoplasm when coexpressed with isoform Ets-1 p27. {ECO:0000269|PubMed:19377509}.


uniprotID: Q9H095
geneSymbol: IQCG
pdb: 4LZX;4M1L;
name: Dynein regulatory complex protein 9 (IQ domain-containing protein G)
length: 443
go: ENSG00000114473;
snps: rs9880989
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; manchette [GO:0002177]; motile cilium [GO:0031514]; sperm flagellum [GO:0036126]; calmodulin binding [GO:0005516]; Hsp70 protein binding [GO:0030544]; cilium organization [GO:0044782]; sperm axoneme assembly [GO:0007288]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H095-1; Sequence=Displayed; Name=2; IsoId=Q9H095-2; Sequence=VSP_024187; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24787902}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q80W32}. Cell projection, cilium {ECO:0000250|UniProtKB:Q80W32}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q80W32}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:A8HQ54}. Note=First detected in the cytoplasm of pachytene spermatocytes. Colocalizes with alpha-tubulin at the manchette in developing spermatids. Detected in the flagellum of mature testicular spermatozoa, and in the flagellum and post-acrosomal region of the head of epididymal spermatozoa. Detected in cilia in trachea and oviduct. {ECO:0000250|UniProtKB:Q80W32}.


uniprotID: P08174
geneSymbol: CD55
reactome: R-HSA-373080;R-HSA-6798695;R-HSA-6807878;R-HSA-977606;
name: Complement decay-accelerating factor (CD antigen CD55)
length: 381
go: ENSG00000196352;
drug: DB00446;
snps: rs28371588 rs28371588 rs147474393 rs1135402914 rs60822373 rs199705465 rs1135402917
pdb:
1H03;1H04;1H2P;1H2Q;1M11;1NWV;1OJV;1OJW;1OJY;1OK1;1OK2;1OK3;1OK9;1UOT;1UPN;2C8I;2QZD;2QZF;2QZH;3IYP;3J24;5FOA;

sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule membrane [GO:0101003]; Golgi membrane [GO:0000139]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; transport vesicle [GO:0030133]; lipid binding [GO:0008289]; virus receptor activity [GO:0001618]; CD4-positive, alpha-beta T cell cytokine production [GO:0035743]; complement activation, classical pathway [GO:0006958]; ER to Golgi vesicle-mediated transport [GO:0006888]; innate immune response [GO:0045087]; negative regulation of complement activation [GO:0045916]; neutrophil degranulation [GO:0043312]; positive regulation of CD4-positive, alpha-beta T cell activation [GO:2000516]; positive regulation of CD4-positive, alpha-beta T cell proliferation [GO:2000563]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of complement activation [GO:0030449]; regulation of lipopolysaccharide-mediated signaling pathway [GO:0031664]; respiratory burst [GO:0045730]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=2; Synonyms=DAF-2; IsoId=P08174-1; Sequence=Displayed; Name=1; Synonyms=DAF-1; IsoId=P08174-2; Sequence=VSP_001200; Name=3; Synonyms=VDAF3; IsoId=P08174-3; Sequence=VSP_047636; Name=4; Synonyms=VDAF2; IsoId=P08174-4; Sequence=VSP_047637; Name=5; Synonyms=VDAF1; IsoId=P08174-5; Sequence=VSP_047638; Name=6; Synonyms=VDAF4; IsoId=P08174-6; Sequence=VSP_047635; Note=Includes partial sequence of the intron 7.; Name=7; Synonyms=VDAF5; IsoId=P08174-7; Sequence=VSP_047634; Note=Includes full sequence of the intron 7.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Lipid-anchor, GPI-anchor.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:16503113}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000269|PubMed:16503113}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000269|PubMed:16503113}.; SUBCELLULAR LOCATION: Isoform 6: Cell membrane {ECO:0000305|PubMed:16503113}; Lipid-anchor, GPI-anchor {ECO:0000305|PubMed:16503113}.; SUBCELLULAR LOCATION: Isoform 7: Cell membrane {ECO:0000305|PubMed:16503113}; Lipid-anchor, GPI-anchor {ECO:0000305|PubMed:16503113}.


uniprotID: Q30KQ8
geneSymbol: DEFB112
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 112 (Beta-defensin 12) (DEFB-12) (Defensin, beta 112)
length: 113
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MKLLTTICRLKLEKMYSKTNTSSTIFEKARHGTEKISTARSEGHHITFSRWKSCTAIGGRCKNQCDDSEFRISYCARPTTHCCVTECDPTDPNNWIPKDSVGTQEWYPKDSRH

opentargets:
extracellular region [GO:0005576]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]


uniprotID: O43293
geneSymbol: DAPK3
reactome: R-HSA-418889;
pdb: 1YRP;2J90;3BHY;3BQR;5A6N;5A6O;5VJA;
length: 454
go: ENSG00000167657;
name:
Death-associated protein kinase 3 (DAP kinase 3) (EC 2.7.11.1) (DAP-like kinase) (Dlk) (MYPT1 kinase) (Zipper-interacting protein kinase) (ZIP-kinase)

sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; membrane raft [GO:0045121]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; cAMP response element binding protein binding [GO:0008140]; identical protein binding [GO:0042802]; leucine zipper domain binding [GO:0043522]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; Rho GTPase binding [GO:0017048]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cellular response to interferon-gamma [GO:0071346]; chromatin organization [GO:0006325]; intracellular signal transduction [GO:0035556]; negative regulation of translation [GO:0017148]; neuron differentiation [GO:0030182]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of apoptotic process [GO:0042981]; regulation of autophagy [GO:0010506]; regulation of cell motility [GO:2000145]; regulation of cell shape [GO:0008360]; regulation of focal adhesion assembly [GO:0051893]; regulation of mitotic cell cycle [GO:0007346]; regulation of mitotic nuclear division [GO:0007088]; regulation of myosin II filament organization [GO:0043519]; regulation of smooth muscle contraction [GO:0006940]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=ZIPK-L; IsoId=O43293-1; Sequence=Displayed; Name=2; Synonyms=ZIPK-S; IsoId=O43293-2; Sequence=VSP_042059, VSP_042060; Note=The internal splice site between exon 8 and the 3' UTR, which yields this truncated isoform, is non-canonical.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15367680, ECO:0000269|PubMed:15910542, ECO:0000269|PubMed:20854903}. Cytoplasm {ECO:0000269|PubMed:15367680, ECO:0000269|PubMed:15611134, ECO:0000269|PubMed:17953487, ECO:0000269|PubMed:20854903}. Note=Predominantly localizes to the cytoplasm but can shuttle between the nucleus and cytoplasm; cytoplasmic localization is promoted by phosphorylation at Thr-299 and involves Rho/Rock signaling. {ECO:0000269|PubMed:17953487, ECO:0000269|PubMed:20854903}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:17126281}. Cytoplasm {ECO:0000269|PubMed:17126281}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:17126281}. Cytoplasm {ECO:0000269|PubMed:17126281}.


uniprotID: Q7Z7B8
geneSymbol: DEFB128
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 128 (Beta-defensin 28) (DEFB-28) (Defensin, beta 128)
sequence: MKLFLVLIILLFEVLTDGARLKKCFNKVTGYCRKKCKVGERYEIGCLSGKLCCANDEEEKKHVSFKKPHQHSGEKLSVLQDYIILPTITIFTV
length: 93
go: ENSG00000185982;
snps: rs4813043
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular region [GO:0005576]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; killing of cells of other organism [GO:0031640]


uniprotID: Q92988
geneSymbol: DLX4
name: Homeobox protein DLX-4 (Beta protein 1) (Homeobox protein DLX-7) (Homeobox protein DLX-8)
length: 240
go: ENSG00000108813;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25954033}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist. PubMed:9073066 (AAC51171) sequence may be an additional isoform.; Name=1; IsoId=Q92988-1; Sequence=Displayed; Name=2; IsoId=Q92988-2; Sequence=VSP_002236; Name=3; IsoId=Q92988-3; Sequence=VSP_002236, VSP_017043; 


uniprotID: P56178
geneSymbol: DLX5
reactome: R-HSA-8939902;
pdb: 2DJN;4RDU;
name: Homeobox protein DLX-5
length: 289
go: ENSG00000105880;
snps: rs387906737 rs35273378
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; anatomical structure formation involved in morphogenesis [GO:0048646]; BMP signaling pathway [GO:0030509]; cell proliferation [GO:0008283]; cellular response to BMP stimulus [GO:0071773]; embryonic limb morphogenesis [GO:0030326]; endochondral ossification [GO:0001958]; epithelial cell differentiation [GO:0030855]; face morphogenesis [GO:0060325]; inner ear morphogenesis [GO:0042472]; interneuron axon guidance [GO:0097376]; nervous system development [GO:0007399]; olfactory bulb interneuron differentiation [GO:0021889]; olfactory pit development [GO:0060166]; osteoblast differentiation [GO:0001649]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus [GO:1901522]; positive regulation of transcription, DNA-templated [GO:0045893]; roof of mouth development [GO:0060021]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56178-1; Sequence=Displayed; Name=2; IsoId=P56178-2; Sequence=VSP_056884; Note=No experimental confirmation available.; 


uniprotID: Q8IXT2
geneSymbol: DMRTC2
name: Doublesex- and mab-3-related transcription factor C2
length: 367
go: ENSG00000142025;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
sequence:

opentargets:
nucleus [GO:0005634]; XY body [GO:0001741]; 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]; male meiosis I [GO:0007141]; positive regulation of histone H3-K9 dimethylation [GO:1900111]; positive regulation of histone H3-K9 trimethylation [GO:1900114]; sex differentiation [GO:0007548]; spermatid nucleus elongation [GO:0007290]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXT2-1; Sequence=Displayed; Name=2; IsoId=Q8IXT2-2; Sequence=VSP_019525, VSP_019526; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P19235
geneSymbol: EPOR
pdb: 1CN4;1EBA;1EBP;1EER;1ERN;2JIX;2MV6;4Y5V;4Y5X;4Y5Y;6E2Q;
name: Erythropoietin receptor (EPO-R)
length: 508
go: ENSG00000187266;
drug: DB00012;DB08923;DB00016;DB09107;DB08894;
snps: rs35423344 rs62638745 rs142094773
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; erythropoietin receptor activity [GO:0004900]; identical protein binding [GO:0042802]; brain development [GO:0007420]; decidualization [GO:0046697]; heart development [GO:0007507]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=EPOR-F; Synonyms=Full-length form; IsoId=P19235-1; Sequence=Displayed; Name=EPOR-S; Synonyms=Soluble form; IsoId=P19235-2; Sequence=VSP_009508, VSP_009509; Name=EPOR-T; Synonyms=Truncated form; IsoId=P19235-3; Sequence=VSP_009510, VSP_009511; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform EPOR-S: Secreted {ECO:0000269|PubMed:11722595}. Note=Secreted and located to the cell surface.


uniprotID: Q9NW81
geneSymbol: DMAC2
name: Distal membrane-arm assembly complex protein 2 (ATP synthase subunit s-like protein)
length: 257
go: ENSG00000105341;
snps: rs2231938 rs2231939 rs2231940 rs1043413 rs2231943
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9D7K5}.
sequence:

opentargets:
mitochondrion [GO:0005739]; SCF ubiquitin ligase complex [GO:0019005]; mitochondrial respiratory chain complex I assembly [GO:0032981]; protein ubiquitination [GO:0016567]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9NW81-1; Sequence=Displayed; Name=2; IsoId=Q9NW81-2; Sequence=VSP_031270, VSP_031271; Note=No experimental confirmation available.; Name=3; IsoId=Q9NW81-3; Sequence=VSP_043807, VSP_031271; Name=4; IsoId=Q9NW81-4; Sequence=VSP_043807; Note=No experimental confirmation available.; Name=5; IsoId=Q9NW81-5; Sequence=VSP_031270; Note=No experimental confirmation available.; Name=6; IsoId=Q9NW81-6; Sequence=VSP_031271; Note=No experimental confirmation available.; 


uniprotID: Q9NQL9
geneSymbol: DMRT3
name: Doublesex- and mab-3-related transcription factor 3
length: 472
go: ENSG00000064218;
snps: rs10978001 rs7854621 rs16927037
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 heterodimerization activity [GO:0046982]; sequence-specific DNA binding [GO:0043565]; adult walking behavior [GO:0007628]; male sex differentiation [GO:0046661]; regulation of odontogenesis of dentin-containing tooth [GO:0042487]; sex differentiation [GO:0007548]; transmission of nerve impulse [GO:0019226]; ventral spinal cord interneuron specification [GO:0021521]


uniprotID: P60509
geneSymbol: ERVPABLB-1
length: 514
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
name:
Endogenous retrovirus group PABLB member 1 Env polyprotein (Endogenous retrovirus group PABLB member 1) (Envelope polyprotein) (HERV-R(b) Env protein) (HERV-R(b)_3p24.3 provirus ancestral Env polyprotein) [Includes: Surface protein domain (SU); Transmembrane protein domain (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: P07992
geneSymbol: ERCC1
reactome: R-HSA-5685938;R-HSA-5696395;R-HSA-5696400;R-HSA-6782135;R-HSA-6783310;
pdb: 1Z00;2A1I;2A1J;2JNW;2JPD;2MUT;
name: DNA excision repair protein ERCC-1
length: 297
go: ENSG00000012061;
snps: rs121913028 rs3212977
sequence:

opentargets:
cytosol [GO:0005829]; ERCC4-ERCC1 complex [GO:0070522]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleotide-excision repair complex [GO:0000109]; nucleotide-excision repair factor 1 complex [GO:0000110]; transcription factor TFIID complex [GO:0005669]; damaged DNA binding [GO:0003684]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; single-stranded DNA binding [GO:0003697]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; TFIID-class transcription factor complex binding [GO:0001094]; cell proliferation [GO:0008283]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; double-strand break repair via nonhomologous end joining [GO:0006303]; embryonic organ development [GO:0048568]; global genome nucleotide-excision repair [GO:0070911]; interstrand cross-link repair [GO:0036297]; isotype switching [GO:0045190]; male gonad development [GO:0008584]; meiotic mismatch repair [GO:0000710]; mitotic recombination [GO:0006312]; multicellular organism aging [GO:0010259]; multicellular organism growth [GO:0035264]; negative regulation of protection from non-homologous end joining at telomere [GO:1905765]; negative regulation of telomere maintenance [GO:0032205]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 3'-to lesion [GO:0006295]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; oogenesis [GO:0048477]; positive regulation of t-circle formation [GO:1904431]; post-embryonic hemopoiesis [GO:0035166]; pyrimidine dimer repair by nucleotide-excision repair [GO:0000720]; replicative cell aging [GO:0001302]; response to cadmium ion [GO:0046686]; response to immobilization stress [GO:0035902]; response to nutrient [GO:0007584]; response to oxidative stress [GO:0006979]; response to sucrose [GO:0009744]; response to X-ray [GO:0010165]; spermatogenesis [GO:0007283]; syncytium formation [GO:0006949]; t-circle formation [GO:0090656]; telomeric DNA-containing double minutes formation [GO:0061819]; transcription-coupled nucleotide-excision repair [GO:0006283]; UV protection [GO:0009650]; UV-damage excision repair [GO:0070914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=202; IsoId=P07992-1; Sequence=Displayed; Name=2; Synonyms=203; IsoId=P07992-2; Sequence=VSP_042727; Note=Not functional in the nucleotide excision repair pathway. Does not interact with XPF/ERCC4.; Name=3; Synonyms=201; IsoId=P07992-3; Sequence=VSP_043455; Note=Not functional in the nucleotide excision repair pathway. Does not interact with XPF/ERCC4.; Name=4; Synonyms=204; IsoId=P07992-4; Sequence=VSP_053474; Note=Not functional in the nucleotide excision repair pathway. Does not interact with XPF/ERCC4.; 

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


uniprotID: P18074
geneSymbol: ERCC2
pdb: 5IVW;5IY6;5IY7;5IY8;5IY9;5OF4;
length: 760
go: ENSG00000104884;
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167246;R-HSA-2564830;R-HSA-427413;R-HSA-5696395;R-HSA-5696400;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-72086;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;

name:
General transcription and DNA repair factor IIH helicase subunit XPD (TFIIH subunit XPD) (EC 3.6.4.12) (Basic transcription factor 2 80 kDa subunit) (BTF2 p80) (CXPD) (DNA excision repair protein ERCC-2) (DNA repair protein complementing XP-D cells) (TFIIH basal transcription factor complex 80 kDa subunit) (TFIIH 80 kDa subunit) (TFIIH p80) (Xeroderma pigmentosum group D-complementing protein)

sequence:

opentargets:
CAK-ERCC2 complex [GO:0070516]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; MMXD complex [GO:0071817]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIH core complex [GO:0000439]; transcription factor TFIIH holo complex [GO:0005675]; 4 iron, 4 sulfur cluster binding [GO:0051539]; 5'-3' DNA helicase activity [GO:0043139]; ATP binding [GO:0005524]; ATP-dependent 5'-3' DNA helicase activity [GO:0043141]; ATP-dependent DNA helicase activity [GO:0004003]; damaged DNA binding [GO:0003684]; DNA-dependent ATPase activity [GO:0008094]; metal ion binding [GO:0046872]; protein binding, bridging [GO:0030674]; protein C-terminus binding [GO:0008022]; protein N-terminus binding [GO:0047485]; 7-methylguanosine mRNA capping [GO:0006370]; aging [GO:0007568]; apoptotic process [GO:0006915]; bone mineralization [GO:0030282]; cell proliferation [GO:0008283]; central nervous system myelin formation [GO:0032289]; chromosome segregation [GO:0007059]; embryonic cleavage [GO:0040016]; embryonic organ development [GO:0048568]; erythrocyte maturation [GO:0043249]; extracellular matrix organization [GO:0030198]; global genome nucleotide-excision repair [GO:0070911]; hair cell differentiation [GO:0035315]; hair follicle maturation [GO:0048820]; hematopoietic stem cell differentiation [GO:0060218]; in utero embryonic development [GO:0001701]; multicellular organism growth [GO:0035264]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA duplex unwinding [GO:0000717]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation of DNA binding [GO:0043388]; positive regulation of mitotic recombination [GO:0045951]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; protein phosphorylation [GO:0006468]; regulation of mitotic cell cycle phase transition [GO:1901990]; regulation of mitotic recombination [GO:0000019]; response to hypoxia [GO:0001666]; response to oxidative stress [GO:0006979]; response to UV [GO:0009411]; spinal cord development [GO:0021510]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]; UV protection [GO:0009650]; viral process [GO:0016032]

snps:
rs121913020 rs1799791 rs1799792 rs370454709 rs1799793 rs121913016 rs121913025 rs772572683 rs121913019 rs140522180 rs753641926 rs771824813 rs376556895 rs121913024 rs121913021 rs762141272 rs770367713 rs752510317 rs121913023 rs758439420 rs41556519 rs121913022 rs121913026 rs121913018 rs13181 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P18074-1; Sequence=Displayed; Name=2; IsoId=P18074-2; Sequence=VSP_043132, VSP_043133, VSP_043134; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:23585563}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20797633}.


uniprotID: Q1HG43
geneSymbol: DUOXA1
name: Dual oxidase maturation factor 1 (Dual oxidase activator 1) (Numb-interacting protein)
length: 343
go: ENSG00000140254;
snps: rs34734975 rs16977686
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]; plasma membrane [GO:0005886]; hydrogen peroxide metabolic process [GO:0042743]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; protein transport [GO:0015031]; regulation of inflammatory response [GO:0050727]; regulation of thyroid hormone generation [GO:2000609]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q1HG43-1; Sequence=Displayed; Name=2; IsoId=Q1HG43-2; Sequence=VSP_021891; Note=No experimental confirmation available.; Name=3; IsoId=Q1HG43-3; Sequence=VSP_021890; 


uniprotID: Q92782
geneSymbol: DPF1
length: 380
go: ENSG00000011332;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
name:
Zinc finger protein neuro-d4 (BRG1-associated factor 45B) (BAF45B) (D4, zinc and double PHD fingers family 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; histone acetyltransferase complex [GO:0000123]; nBAF complex [GO:0071565]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q92782-1; Sequence=Displayed; Name=2; IsoId=Q92782-2; Sequence=VSP_040225, VSP_040226; Name=3; IsoId=Q92782-3; Sequence=VSP_040224, VSP_040225, VSP_040226; 


uniprotID: Q96FX2
geneSymbol: DPH3
reactome: R-HSA-5358493;
pdb: 2JR7;
name: DPH3 homolog (CSL-type zinc finger-containing protein 2) (DelGEF-interacting protein 1) (DelGIP1)
sequence: MAVFHDEVEIEDFQYDEDSETYFYPCPCGDNFSITKEDLENGEDVATCPSCSLIIKVIYDKDQFVCGETVPAPSANKELVKC
length: 82
go: ENSG00000154813;
opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; negative regulation of protein secretion [GO:0050709]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]; positive regulation of binding [GO:0051099]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FX2-1; Sequence=Displayed; Name=2; IsoId=Q96FX2-2; Sequence=VSP_012411; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14980502}. Nucleus {ECO:0000269|PubMed:14980502}.


uniprotID: O95718
geneSymbol: ESRRB
reactome: R-HSA-383280;
pdb: 1LO1;
length: 433
go: ENSG00000119715;
snps: rs121909110 rs121909111 rs61742642 rs201714970
name:
Steroid hormone receptor ERR2 (ERR beta-2) (Estrogen receptor-like 2) (Estrogen-related receptor beta) (ERR-beta) (Nuclear receptor subfamily 3 group B member 2)

sequence:

opentargets:
condensed chromosome [GO:0000793]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; nuclear receptor activity [GO:0004879]; RNA polymerase II complex binding [GO:0000993]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; cell dedifferentiation [GO:0043697]; cell proliferation [GO:0008283]; inner ear development [GO:0048839]; negative regulation of stem cell differentiation [GO:2000737]; photoreceptor cell maintenance [GO:0045494]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of glycolytic process [GO:0045821]; positive regulation of stem cell population maintenance [GO:1902459]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0071931]; positive regulation of transcription involved in G2/M transition of mitotic cell cycle [GO:0090282]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of stem cell division [GO:2000035]; regulation of transcription, DNA-templated [GO:0006355]; stem cell division [GO:0017145]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; Synonyms=ERRbeta-short-form {ECO:0000303|PubMed:16332939}; IsoId=O95718-3; Sequence=Displayed; Name=1; Synonyms=ERRbeta2-delta10 {ECO:0000303|PubMed:16332939}; IsoId=O95718-1; Sequence=VSP_058967; Note=Primate-specific splicing isoform. {ECO:0000303|PubMed:16332939}; Name=2; Synonyms=ERRbeta2 {ECO:0000303|PubMed:16332939}; IsoId=O95718-2; Sequence=VSP_058968; Note=Primate-specific splicing isoform. {ECO:0000303|PubMed:16332939}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18775884}. Cytoplasm {ECO:0000250|UniProtKB:Q61539}. Chromosome {ECO:0000250|UniProtKB:Q61539}.


uniprotID: Q9H2P9
geneSymbol: DPH5
reactome: R-HSA-5358493;
name: Diphthine methyl ester synthase (EC 2.1.1.314) (Diphthamide biosynthesis methyltransferase)
length: 285
go: ENSG00000117543;
drug: DB01752;
sequence:

opentargets:
cytosol [GO:0005829]; diphthine synthase activity [GO:0004164]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9H2P9-1; Sequence=Displayed; Name=2; IsoId=Q9H2P9-2; Sequence=VSP_008508; Note=No experimental confirmation available.; Name=3; IsoId=Q9H2P9-3; Sequence=VSP_008509; Note=No experimental confirmation available.; Name=4; IsoId=Q9H2P9-4; Sequence=VSP_008510; Note=No experimental confirmation available.; Name=5; IsoId=Q9H2P9-5; Sequence=VSP_008511; Note=No experimental confirmation available.; Name=6; IsoId=Q9H2P9-6; Sequence=VSP_043444; Note=No experimental confirmation available.; 


uniprotID: Q9BVM2
geneSymbol: DPCD
name: Protein DPCD
length: 203
go: ENSG00000166171;
snps: rs7006
sequence:

opentargets:
nucleus [GO:0005634]; determination of left/right symmetry [GO:0007368]; epithelial cilium movement [GO:0003351]; flagellated sperm motility [GO:0030317]; lateral ventricle development [GO:0021670]; left/right pattern formation [GO:0060972]; spermatogenesis [GO:0007283]; third ventricle development [GO:0021678]


uniprotID: B6SEH9
geneSymbol: ERVV-2
length: 535
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Endogenous retrovirus group V member 2 Env polyprotein (HERV-V_19q13.41 provirus ancestral Env polyprotein 2)

sequence:


uniprotID: Q8TE68
geneSymbol: EPS8L1
pdb: 2K2M;2ROL;
length: 723
go: ENSG00000131037;
snps: rs12609976 rs1620074 rs1628576 rs1054940 rs60073068
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14565974}.
name:
Epidermal growth factor receptor kinase substrate 8-like protein 1 (EPS8-like protein 1) (Epidermal growth factor receptor pathway substrate 8-related protein 1) (EPS8-related protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; T cell receptor binding [GO:0042608]; positive regulation of ruffle assembly [GO:1900029]; regulation of Rho protein signal transduction [GO:0035023]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=Q8TE68-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8TE68-2; Sequence=VSP_019083, VSP_019085; Name=3; Synonyms=C; IsoId=Q8TE68-3; Sequence=VSP_019084, VSP_019088, VSP_019089; Name=4; IsoId=Q8TE68-4; Sequence=VSP_019082, VSP_019086, VSP_019087, VSP_019088; 


uniprotID: Q9H6S3
geneSymbol: EPS8L2
pdb: 1WWU;1WXB;
length: 715
go: ENSG00000177106;
name:
Epidermal growth factor receptor kinase substrate 8-like protein 2 (EPS8-like protein 2) (Epidermal growth factor receptor pathway substrate 8-related protein 2) (EPS8-related protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; stereocilium bundle [GO:0032421]; stereocilium tip [GO:0032426]; vesicle [GO:0031982]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; positive regulation of ruffle assembly [GO:1900029]; regulation of Rho protein signal transduction [GO:0035023]; Rho protein signal transduction [GO:0007266]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H6S3-1; Sequence=Displayed; Name=2; IsoId=Q9H6S3-2; Sequence=VSP_019092; Name=3; IsoId=Q9H6S3-3; Sequence=VSP_054144; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14565974}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q99K30}. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells. {ECO:0000250|UniProtKB:Q99K30}.


uniprotID: Q8TE67
geneSymbol: EPS8L3
pdb: 1WXT;
length: 593
go: ENSG00000198758;
snps: rs17598321 rs6693815 rs3818562 rs11102001 rs35072794
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14565974}.
name:
Epidermal growth factor receptor kinase substrate 8-like protein 3 (EPS8-like protein 3) (Epidermal growth factor receptor pathway substrate 8-related protein 3) (EPS8-related protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; actin binding [GO:0003779]; positive regulation of ruffle assembly [GO:1900029]; regulation of hair cycle [GO:0042634]; regulation of Rho protein signal transduction [GO:0035023]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TE67-1; Sequence=Displayed; Name=2; IsoId=Q8TE67-2; Sequence=VSP_019096; Name=3; Synonyms=A; IsoId=Q8TE67-3; Sequence=VSP_019095; 


uniprotID: Q5FWF5
geneSymbol: ESCO1
reactome: R-HSA-2468052;
pdb: 4MXE;5T53;
length: 840
go: ENSG00000141446;
snps: rs35087820 rs13381941
name:
N-acetyltransferase ESCO1 (EC 2.3.1.-) (CTF7 homolog 1) (Establishment factor-like protein 1) (EFO1p) (hEFO1) (Establishment of cohesion 1 homolog 1) (ECO1 homolog 1) (ESO1 homolog 1)

sequence:

opentargets:
chromatin [GO:0000785]; chromosome [GO:0005694]; nucleoplasm [GO:0005654]; acetyltransferase activity [GO:0016407]; identical protein binding [GO:0042802]; N-acetyltransferase activity [GO:0008080]; peptide-lysine-N-acetyltransferase activity [GO:0061733]; zinc ion binding [GO:0008270]; peptidyl-lysine acetylation [GO:0018394]; post-translational protein acetylation [GO:0034421]; regulation of DNA replication [GO:0006275]; sister chromatid cohesion [GO:0007062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5FWF5-1; Sequence=Displayed; Name=2; IsoId=Q5FWF5-2; Sequence=VSP_014029, VSP_014030; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14576321, ECO:0000269|PubMed:15958495}. Chromosome {ECO:0000269|PubMed:15958495}. Note=Nuclear at interphase, associated with chromosomes during mitosis. {ECO:0000269|PubMed:15958495}.


uniprotID: Q9H501
geneSymbol: ESF1
name: ESF1 homolog (ABT1-associated protein)
length: 851
go: ENSG00000089048;
snps: rs6079171 rs3180370 rs34414644
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}. Nucleus, nucleoplasm {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]


uniprotID: Q14181
geneSymbol: POLA2
reactome: R-HSA-113501;R-HSA-174411;R-HSA-174430;R-HSA-68952;R-HSA-68962;R-HSA-69091;R-HSA-69166;R-HSA-69183;
pdb: 2KEB;4E2I;4Y97;5EXR;
name: DNA polymerase alpha subunit B (DNA polymerase alpha 70 kDa subunit)
length: 598
go: ENSG00000014138;
drug: DB00851;
snps: rs487989 rs7123885
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
alpha DNA polymerase:primase complex [GO:0005658]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; protein heterodimerization activity [GO:0046982]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]; telomere maintenance via semi-conservative replication [GO:0032201]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14181-1; Sequence=Displayed; Name=2; IsoId=Q14181-2; Sequence=VSP_056608, VSP_056609; Note=No experimental confirmation available.; 


uniprotID: P28340
geneSymbol: POLD1
length: 1107
go: ENSG00000062822;
reactome:
R-HSA-110314;R-HSA-174411;R-HSA-174414;R-HSA-174417;R-HSA-174437;R-HSA-2564830;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-69091;R-HSA-69166;R-HSA-69183;

name:
DNA polymerase delta catalytic subunit (EC 2.7.7.7) (EC 3.1.11.-) (DNA polymerase subunit delta p125)

sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; delta DNA polymerase complex [GO:0043625]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleotide-excision repair complex [GO:0000109]; nucleus [GO:0005634]; 3'-5'-exodeoxyribonuclease activity [GO:0008296]; 4 iron, 4 sulfur cluster binding [GO:0051539]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; base-excision repair, gap-filling [GO:0006287]; cellular response to UV [GO:0034644]; DNA damage response, detection of DNA damage [GO:0042769]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA replication proofreading [GO:0045004]; DNA synthesis involved in DNA repair [GO:0000731]; DNA-dependent DNA replication [GO:0006261]; fatty acid homeostasis [GO:0055089]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; response to UV [GO:0009411]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

snps:
rs9282830 rs3218773 rs9282831 rs3218772 rs1726801 rs1726803 rs3218750 rs2230243 rs587777627 rs397514632 rs199783227 rs771700024 rs3218775 rs3219457 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:20227374, ECO:0000269|PubMed:22801543}. Note=Colocalizes with PCNA and POLD3 at S phase replication sites (PubMed:11595739). After UV irradiation, recruited to DNA damage sites within 2 hours, independently on the cell cycle phase, nor on PCNA ubiquitination. This recruitement requires POLD3, PCNA and RFC1-replication factor C complex (PubMed:20227374, PubMed:22801543). {ECO:0000269|PubMed:11595739, ECO:0000269|PubMed:20227374, ECO:0000269|PubMed:22801543}.


uniprotID: Q96BH3
geneSymbol: ELSPBP1
name: Epididymal sperm-binding protein 1 (Epididymal secretory protein 12) (hE12)
length: 223
go: ENSG00000169393;
snps: rs3745751 rs35362679 rs2303690 rs6509358
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11144225, ECO:0000269|PubMed:17307309}.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; heparin binding [GO:0008201]; single fertilization [GO:0007338]; sperm capacitation [GO:0048240]


uniprotID: Q9NR33
geneSymbol: POLE4
length: 117
go: ENSG00000115350;
drug: DB00242;
snps: rs12366
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
reactome:
R-HSA-110314;R-HSA-174430;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-68952;R-HSA-68962;

name:
DNA polymerase epsilon subunit 4 (EC 2.7.7.7) (DNA polymerase II subunit 4) (DNA polymerase epsilon subunit p12)

sequence:
MAAAAAAGSGTPREEEGPAGEAAASQPQAPTSVPGARLSRLPLARVKALVKADPDVTLAGQEAIFILARAAELFVETIAKDAYCCAQQGKRKTLQRRDLDNAIEAVDEFAFLEGTLD

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; epsilon DNA polymerase complex [GO:0008622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; protein heterodimerization activity [GO:0046982]; G1/S transition of mitotic cell cycle [GO:0000082]; histone H3 acetylation [GO:0043966]


uniprotID: P06746
geneSymbol: POLB
reactome: R-HSA-110362;R-HSA-110373;R-HSA-110381;R-HSA-5649702;R-HSA-5651801;R-HSA-5689880;R-HSA-73930;
name: DNA polymerase beta (EC 2.7.7.7) (EC 4.2.99.-)
length: 335
go: ENSG00000070501;
drug: DB03222;DB00987;
snps: rs3136797
pdb:
1BPX;1BPY;1BPZ;1MQ2;1MQ3;1TV9;1TVA;1ZJM;1ZJN;1ZQA;1ZQB;1ZQC;1ZQD;1ZQE;1ZQF;1ZQG;1ZQH;1ZQI;1ZQJ;1ZQK;1ZQL;1ZQM;1ZQN;1ZQO;1ZQP;1ZQQ;1ZQR;1ZQS;1ZQT;2FMP;2FMQ;2FMS;2I9G;2ISO;2ISP;2P66;2PXI;3C2K;3C2L;3C2M;3GDX;3ISB;3ISC;3ISD;3JPN;3JPO;3JPP;3JPQ;3JPR;3JPS;3JPT;3LK9;3MBY;3OGU;3RH4;3RH5;3RH6;3RJE;3RJF;3RJG;3RJH;3RJI;3RJJ;3RJK;3TFR;3TFS;4DO9;4DOA;4DOB;4DOC;4F5N;4F5O;4F5P;4F5Q;4F5R;4GXI;4GXJ;4GXK;4JWM;4JWN;4KLD;4KLE;4KLF;4KLG;4KLH;4KLI;4KLJ;4KLL;4KLM;4KLO;4KLQ;4KLS;4KLT;4KLU;4LVS;4M2Y;4M47;4M9G;4M9H;4M9J;4M9L;4M9N;4MF2;4MF8;4MFA;4MFC;4MFF;4NLK;4NLN;4NLZ;4NM1;4NM2;4NXZ;4NY8;4O5C;4O5E;4O5K;4O9M;4P2H;4PGQ;4PGX;4PGY;4PH5;4PHA;4PHD;4PHE;4PHP;4PPX;4R63;4R64;4R65;4R66;4RPX;4RPY;4RPZ;4RQ0;4RQ1;4RQ2;4RQ3;4RQ4;4RQ5;4RQ6;4RQ7;4RQ8;4RT2;4RT3;4TUP;4TUQ;4TUR;4TUS;4UAW;4UAY;4UAZ;4UB1;4UB2;4UB3;4UB4;4UB5;4UBB;4UBC;4YMM;4YMN;4YMO;4YN4;4Z6C;4Z6D;4Z6E;4Z6F;5BOL;5BOM;5BPC;5DB6;5DB7;5DB8;5DB9;5DBA;5DBB;5DBC;5EOZ;5HHH;5HHI;5J0O;5J0P;5J0Q;5J0R;5J0S;5J0T;5J0U;5J0W;5J0X;5J0Y;5J29;5J2A;5J2B;5J2C;5J2D;5J2E;5J2F;5J2G;5J2H;5J2I;5J2J;5J2K;5TB8;5TB9;5TBA;5TBB;5TBC;5TZV;5U2R;5U2S;5U2T;5U8G;5U8H;5U8I;5U9H;5UGN;5UGO;5UGP;5V1F;5V1G;5V1H;5V1I;5V1J;5V1N;5V1O;5V1P;5V1R;5VEZ;5VRW;5VRX;5VRY;5VRZ;5VS0;5VS1;5VS2;5VS3;5VS4;5WNX;5WNY;5WNZ;5WO0;6BTE;6BTF;6CR3;6CR4;6CR5;6CR6;6CR7;6CR8;6CR9;6CRB;6CRC;6CTI;6CTJ;6CTK;6CTL;6CTM;6CTN;6CTO;6CTP;6CTQ;6CTR;6CTT;6CTU;6CTV;6CTW;6CTX;6G2Q;7ICE;7ICF;7ICG;7ICH;7ICI;7ICJ;7ICK;7ICL;7ICM;7ICN;7ICO;7ICP;7ICQ;7ICR;7ICS;7ICT;7ICU;7ICV;8ICA;8ICB;8ICC;8ICE;8ICF;8ICG;8ICH;8ICI;8ICJ;8ICK;8ICL;8ICM;8ICN;8ICO;8ICP;8ICQ;8ICR;8ICS;8ICT;8ICU;8ICV;8ICW;8ICX;8ICY;8ICZ;9ICA;9ICB;9ICC;9ICE;9ICF;9ICG;9ICH;9ICI;9ICJ;9ICK;9ICL;9ICM;9ICN;9ICO;9ICP;9ICQ;9ICR;9ICS;9ICT;9ICU;9ICV;9ICW;9ICX;9ICY;

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spindle microtubule [GO:0005876]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; DNA-directed DNA polymerase activity [GO:0003887]; enzyme binding [GO:0019899]; lyase activity [GO:0016829]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; aging [GO:0007568]; base-excision repair [GO:0006284]; base-excision repair, base-free sugar-phosphate removal [GO:0006286]; base-excision repair, DNA ligation [GO:0006288]; base-excision repair, gap-filling [GO:0006287]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; DNA-dependent DNA replication [GO:0006261]; homeostasis of number of cells [GO:0048872]; immunoglobulin heavy chain V-D-J recombination [GO:0071707]; inflammatory response [GO:0006954]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; lymph node development [GO:0048535]; neuron apoptotic process [GO:0051402]; protein deubiquitination [GO:0016579]; pyrimidine dimer repair [GO:0006290]; response to ethanol [GO:0045471]; response to gamma radiation [GO:0010332]; response to hyperoxia [GO:0055093]; salivary gland morphogenesis [GO:0007435]; somatic hypermutation of immunoglobulin genes [GO:0016446]; spleen development [GO:0048536]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Cytoplasmic in normal conditions. Translocates to the nucleus following DNA damage.


uniprotID: Q6ZVH7
geneSymbol: ESPNL
name: Espin-like protein
length: 1005
go: ENSG00000144488;
snps: rs34046909 rs13033248 rs13006204 rs4663845 rs10172220
location: SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250|UniProtKB:Q3UYR4}.
sequence:

opentargets:
cytoplasm [GO:0005737]; stereocilium tip [GO:0032426]; actin filament binding [GO:0051015]; actin filament bundle assembly [GO:0051017]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZVH7-1; Sequence=Displayed; Name=2; IsoId=Q6ZVH7-2; Sequence=VSP_029859; Name=3; IsoId=Q6ZVH7-3; Sequence=VSP_029858; 


uniprotID: B1AK53
geneSymbol: ESPN
name: Espin (Autosomal recessive deafness type 36 protein) (Ectoplasmic specialization protein)
length: 854
go: ENSG00000187017;
snps: rs3817911 rs3817910 rs121908134 rs121908135 rs121908136
sequence:

opentargets:
brush border [GO:0005903]; cytoplasm [GO:0005737]; filamentous actin [GO:0031941]; microvillus [GO:0005902]; stereocilium tip [GO:0032426]; actin filament binding [GO:0051015]; SH3 domain binding [GO:0017124]; actin filament bundle assembly [GO:0051017]; locomotory behavior [GO:0007626]; negative regulation of cytoskeleton organization [GO:0051494]; parallel actin filament bundle assembly [GO:0030046]; positive regulation of filopodium assembly [GO:0051491]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=B1AK53-1; Sequence=Displayed; Name=2; IsoId=B1AK53-2; Sequence=VSP_033728, VSP_033729; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9ET47}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q9ET47}. Cell projection, microvillus {ECO:0000250|UniProtKB:Q9ET47}.


uniprotID: P27487
geneSymbol: DPP4
reactome: R-HSA-381771;R-HSA-400511;
length: 766
go: ENSG00000197635;
pdb:
1J2E;1N1M;1NU6;1NU8;1PFQ;1R9M;1R9N;1RWQ;1TK3;1TKR;1U8E;1W1I;1WCY;1X70;2AJL;2BGN;2BGR;2BUB;2FJP;2G5P;2G5T;2G63;2HHA;2I03;2I78;2IIT;2IIV;2JID;2OAG;2OGZ;2OLE;2ONC;2OPH;2OQI;2OQV;2P8S;2QJR;2QKY;2QOE;2QT9;2QTB;2RGU;2RIP;3BJM;3C43;3C45;3CCB;3CCC;3D4L;3EIO;3F8S;3G0B;3G0C;3G0D;3G0G;3H0C;3HAB;3HAC;3KWF;3KWJ;3NOX;3O95;3O9V;3OC0;3OPM;3Q0T;3Q8W;3QBJ;3SWW;3SX4;3VJK;3VJL;3VJM;3W2T;3WQH;4A5S;4DSA;4DSZ;4DTC;4G1F;4J3J;4JH0;4KR0;4L72;4LKO;4N8D;4N8E;4PNZ;4PV7;4QZV;5I7U;5ISM;5J3J;5KBY;5T4B;5T4E;5T4F;5T4H;6B1E;6B1O;

name:
Dipeptidyl peptidase 4 (EC 3.4.14.5) (ADABP) (Adenosine deaminase complexing protein 2) (ADCP-2) (Dipeptidyl peptidase IV) (DPP IV) (T-cell activation antigen CD26) (TP103) (CD antigen CD26) [Cleaved into: Dipeptidyl peptidase 4 membrane form (Dipeptidyl peptidase IV membrane form); Dipeptidyl peptidase 4 soluble form (Dipeptidyl peptidase IV soluble form)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; endocytic vesicle [GO:0030139]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; intercellular canaliculus [GO:0046581]; invadopodium membrane [GO:0071438]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; dipeptidyl-peptidase activity [GO:0008239]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; signaling receptor binding [GO:0005102]; virus receptor activity [GO:0001618]; behavioral fear response [GO:0001662]; cell adhesion [GO:0007155]; endothelial cell migration [GO:0043542]; locomotory exploration behavior [GO:0035641]; negative regulation of extracellular matrix disassembly [GO:0010716]; positive regulation of cell proliferation [GO:0008284]; proteolysis [GO:0006508]; psychomotor behavior [GO:0036343]; regulation of cell-cell adhesion mediated by integrin [GO:0033632]; regulation of insulin secretion [GO:0050796]; response to hypoxia [GO:0001666]; T cell activation [GO:0042110]; T cell costimulation [GO:0031295]

drug:
DB07482;DB03253;DB04577;DB08024;DB07412;DB08588;DB01884;DB08672;DB03660;DB07239;DB06203;DB01076;DB04491;DB06127;DB08882;DB06655;DB07779;DB08429;DB05065;DB05001;DB06335;DB01261;DB04876;

location:
SUBCELLULAR LOCATION: Dipeptidyl peptidase 4 soluble form: Secreted {ECO:0000269|PubMed:10951221}. Note=Detected in the serum and the seminal fluid.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10900005, ECO:0000269|PubMed:11772392, ECO:0000305|PubMed:8101391}; Single-pass type II membrane protein. Apical cell membrane {ECO:0000269|PubMed:11773049}; Single-pass type II membrane protein. Cell projection, invadopodium membrane {ECO:0000269|PubMed:16651416}; Single-pass type II membrane protein. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:16651416}; Single-pass type II membrane protein. Cell junction {ECO:0000269|PubMed:11772392}. Membrane raft {ECO:0000269|PubMed:17287217}. Note=Translocated to the apical membrane through the concerted action of N- and O-Glycans and its association with lipid microdomains containing cholesterol and sphingolipids (PubMed:11773049). Redistributed to membrane rafts in T-cell in a interleukin-12-dependent activation (PubMed:12676959). Its interaction with CAV1 is necessary for its translocation to membrane rafts (PubMed:17287217). Colocalized with PTPRC in membrane rafts (PubMed:12676959). Colocalized with FAP in invadopodia and lamellipodia of migratory activated endothelial cells in collagenous matrix. Colocalized with FAP on endothelial cells of capillary-like microvessels but not large vessels within invasive breast ductal carcinoma (PubMed:16651416). Colocalized with ADA at the cell junction in lymphocyte-epithelial cell adhesion (PubMed:11772392). Colocalized with IGF2R in internalized cytoplasmic vesicles adjacent to the cell surface (PubMed:10900005). {ECO:0000269|PubMed:10900005, ECO:0000269|PubMed:11772392, ECO:0000269|PubMed:11773049, ECO:0000269|PubMed:12676959, ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:17287217}.


uniprotID: A6NFQ7
geneSymbol: DPRX
name: Divergent paired-related homeobox
length: 191
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:
MPGSEDLRKGKDQMHSHRKRTMFTKKQLEDLNILFNENPYPNPSLQKEMASKIDIHPTVLQVWFKNHRAKLKKAKCKHIHQKQETPQPPIPEGGVSTSVGLRNADTLPRLPNAAHPIGLVYTGHRVPSFQLILYPNLKVPANDFIGHRIVHFGCCRDPNIYCLYPILESQVCAPSFHSGSPACSSNQSRER

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


uniprotID: Q8TB45
geneSymbol: DEPTOR
name: DEP domain-containing mTOR-interacting protein (DEP domain-containing protein 6)
length: 409
go: ENSG00000155792;
snps: rs34057546 rs2271900 rs4871827
sequence:

opentargets:
intracellular [GO:0005622]; intracellular signal transduction [GO:0035556]; negative regulation of cell size [GO:0045792]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of TOR signaling [GO:0032007]; regulation of extrinsic apoptotic signaling pathway [GO:2001236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TB45-1; Sequence=Displayed; Name=2; IsoId=Q8TB45-2; Sequence=VSP_054681; Note=No experimental confirmation available.; 


uniprotID: Q9H6T0
geneSymbol: ESRP2
reactome: R-HSA-6803529;
name: Epithelial splicing regulatory protein 2 (RNA-binding motif protein 35B) (RNA-binding protein 35B)
length: 727
go: ENSG00000103067;
snps: rs12597504 rs3743738 rs36054935
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19285943}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; alternative mRNA splicing, via spliceosome [GO:0000380]; branching involved in salivary gland morphogenesis [GO:0060445]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; fibroblast growth factor receptor signaling pathway [GO:0008543]; positive regulation of epithelial cell proliferation [GO:0050679]; regulation of RNA splicing [GO:0043484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6T0-1; Sequence=Displayed; Name=2; IsoId=Q9H6T0-2; Sequence=VSP_022474; Note=No experimental confirmation available.; 


uniprotID: Q96DF8
geneSymbol: ESS2
length: 476
go: ENSG00000100056;
snps: rs113904207 rs17743887 rs712965
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P34420}.
name:
Splicing factor ESS-2 homolog (DiGeorge syndrome critical region 13) (DiGeorge syndrome critical region 14) (DiGeorge syndrome protein H) (DGS-H) (Protein ES2)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleus [GO:0005634]; mRNA splicing, via spliceosome [GO:0000398]; nervous system development [GO:0007399]


uniprotID: Q86US8
geneSymbol: SMG6
reactome: R-HSA-975957;
pdb: 2DOK;2HWW;2HWX;4UM2;
length: 1419
go: ENSG00000070366;
drug: DB05036;
snps: rs1885986 rs216195 rs1885987 rs34047637 rs903160 rs35173108 rs58801957 rs2273980
name:
Telomerase-binding protein EST1A (EC 3.1.-.-) (EST1-like protein A) (Ever shorter telomeres 1A) (Smg-6 homolog) (Telomerase subunit EST1A) (hSmg5/7a)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; DNA polymerase binding [GO:0070182]; endoribonuclease activity [GO:0004521]; metal ion binding [GO:0046872]; ribonuclease activity [GO:0004540]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; telomeric DNA binding [GO:0042162]; mRNA export from nucleus [GO:0006406]; negative regulation of telomere capping [GO:1904354]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of dephosphorylation [GO:0035303]; regulation of RNA stability [GO:0043487]; regulation of telomerase activity [GO:0051972]; regulation of telomere maintenance [GO:0032204]; regulation of telomere maintenance via telomerase [GO:0032210]; telomere maintenance via telomerase [GO:0007004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86US8-1; Sequence=Displayed; Name=2; IsoId=Q86US8-2; Sequence=VSP_010360, VSP_010361; Name=3; IsoId=Q86US8-3; Sequence=VSP_047157; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Chromosome, telomere {ECO:0000305}. Cytoplasm, cytosol. Note=Particularly enriched in the nucleolus.


uniprotID: P23141
geneSymbol: CES1
reactome: R-HSA-211945;
pdb: 1MX1;1MX5;1MX9;1YA4;1YA8;1YAH;1YAJ;2DQY;2DQZ;2DR0;2H7C;2HRQ;2HRR;3K9B;4AB1;5A7F;5A7G;5A7H;
length: 567
go: ENSG00000198848;
snps: rs2307240 rs71647871 rs2307243 rs2307227
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:10562416}.
name:
Liver carboxylesterase 1 (Acyl-coenzyme A:cholesterol acyltransferase) (ACAT) (Brain carboxylesterase hBr1) (Carboxylesterase 1) (CE-1) (hCE-1) (EC 3.1.1.1) (Cocaine carboxylesterase) (Egasyn) (HMSE) (Methylumbelliferyl-acetate deacetylase 1) (EC 3.1.1.56) (Monocyte/macrophage serine esterase) (Retinyl ester hydrolase) (REH) (Serine esterase 1) (Triacylglycerol hydrolase) (TGH)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; carboxylic ester hydrolase activity [GO:0052689]; methylumbelliferyl-acetate deacetylase activity [GO:0047374]; sterol esterase activity [GO:0004771]; triglyceride lipase activity [GO:0004806]; cholesterol biosynthetic process [GO:0006695]; cholesterol ester hydrolysis involved in cholesterol transport [GO:0090122]; epithelial cell differentiation [GO:0030855]; lipid catabolic process [GO:0016042]; medium-chain fatty acid metabolic process [GO:0051791]; response to toxic substance [GO:0009636]; xenobiotic metabolic process [GO:0006805]

drug:
DB03056;DB01086;DB01101;DB02659;DB01410;DB00758;DB04838;DB06695;DB02161;DB00328;DB00762;DB00583;DB06693;DB00688;DB03721;DB04509;DB00198;DB09269;DB01599;DB06201;DB11362;DB00675;DB04795;DB00519;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P23141-1; Sequence=Displayed; Name=2; IsoId=P23141-2; Sequence=VSP_021026; Name=3; IsoId=P23141-3; Sequence=VSP_047158; 


uniprotID: O00748
geneSymbol: CES2
reactome: R-HSA-211945;
length: 559
go: ENSG00000172831;
drug: DB06695;DB00762;DB00688;DB06209;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:22446793}.
name:
Cocaine esterase (EC 3.1.1.84) (Carboxylesterase 2) (CE-2) (hCE-2) (EC 3.1.1.1) (Methylumbelliferyl-acetate deacetylase 2) (EC 3.1.1.56)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; carboxylic ester hydrolase activity [GO:0052689]; methylumbelliferyl-acetate deacetylase activity [GO:0047374]; catabolic process [GO:0009056]; prostaglandin metabolic process [GO:0006693]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; IsoId=O00748-1; Sequence=Displayed; Name=2; IsoId=O00748-2; Sequence=VSP_010161; Name=3; IsoId=O00748-4; Sequence=VSP_059804; Note=Probably produced by alternative initiation of isoform 1. Does not contain a signal peptide. The biological function of the extra amino acids in the N-terminus remains to be determined. {ECO:0000303|PubMed:28677105}; Name=4; IsoId=O00748-5; Sequence=VSP_059804, VSP_010161; Note=Probably produced by alternative initiation of isoform 2. Does not contain a signal peptide. The biological function of the extra amino acids in the N-terminus remains to be determined. {ECO:0000303|PubMed:28677105}; 


uniprotID: Q6UWW8
geneSymbol: CES3
reactome: R-HSA-211945;R-HSA-8964038;
name: Carboxylesterase 3 (EC 3.1.1.1) (Liver carboxylesterase 31 homolog)
length: 571
go: ENSG00000172828;
snps: rs61745806 rs71647891 rs71647892 rs61742964 rs71647894 rs61743167 rs71649615 rs8059252
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; carboxylic ester hydrolase activity [GO:0052689]; sterol esterase activity [GO:0004771]; triglyceride lipase activity [GO:0004806]; lipid catabolic process [GO:0016042]; low-density lipoprotein particle clearance [GO:0034383]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWW8-1; Sequence=Displayed; Name=2; IsoId=Q6UWW8-2; Sequence=VSP_044994; Note=No experimental confirmation available.; 


uniprotID: Q5XG92
geneSymbol: CES4A
name: Carboxylesterase 4A (EC 3.1.1.-)
length: 561
go: ENSG00000172824;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; carboxylic ester hydrolase activity [GO:0052689]; sterol esterase activity [GO:0004771]; triglyceride lipase activity [GO:0004806]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q5XG92-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=2; IsoId=Q5XG92-2; Sequence=VSP_032483, VSP_032485; Note=No experimental confirmation available. Inactive.; Name=3; IsoId=Q5XG92-4; Sequence=VSP_032480; 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=Q5XG92-5; Sequence=VSP_040066, VSP_040067; Note=No experimental confirmation available.; Name=5; IsoId=Q5XG92-6; Sequence=VSP_040063; Note=No experimental confirmation available.; Name=6; IsoId=Q5XG92-7; Sequence=VSP_040063, VSP_040065, VSP_040066, VSP_040067; Note=No experimental confirmation available.; Name=7; IsoId=Q5XG92-8; Sequence=VSP_040064, VSP_032483, VSP_040066, VSP_040067; Note=No experimental confirmation available.; 


uniprotID: Q6NT32
geneSymbol: CES5A
name: Carboxylesterase 5A (EC 3.1.1.1) (Carboxylesterase-like urinary excreted protein homolog) (Cauxin)
length: 575
go: ENSG00000159398;
snps: rs2397965 rs11076126 rs11860946 rs16955812 rs11860456
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; carboxylic ester hydrolase activity [GO:0052689]; sterol esterase activity [GO:0004771]; triglyceride lipase activity [GO:0004806]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NT32-1; Sequence=Displayed; Name=2; IsoId=Q6NT32-2; Sequence=VSP_029006; Name=3; IsoId=Q6NT32-3; Sequence=VSP_029005; Note=No experimental confirmation available.; Name=4; IsoId=Q6NT32-4; Sequence=VSP_043296; Note=No experimental confirmation available.; 


uniprotID: Q8IXQ9
geneSymbol: ETFBKMT
reactome: R-HSA-8876725;
length: 262
go: ENSG00000139160;
name:
Electron transfer flavoprotein beta subunit lysine methyltransferase (EC 2.1.1.-) (ETFB lysine methyltransferase) (ETFB-KMT) (Protein N-lysine methyltransferase METTL20)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; protein-containing complex [GO:0032991]; heat shock protein binding [GO:0031072]; protein-lysine N-methyltransferase activity [GO:0016279]; negative regulation of electron transfer activity [GO:1904733]; negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:1904736]; peptidyl-lysine methylation [GO:0018022]; peptidyl-lysine trimethylation [GO:0018023]; protein methylation [GO:0006479]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23349634}. Mitochondrion matrix {ECO:0000269|PubMed:25023281, ECO:0000305|PubMed:25416781}. Note=Concentrated in cytoplasmic granular foci. {ECO:0000269|PubMed:23349634}.


uniprotID: P01903
geneSymbol: HLA-DRA
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 alpha chain (MHC class II antigen DRA)
length: 254
snps: rs16822586 rs7192
pdb:
1A6A;1AQD;1BX2;1D5M;1D5X;1D5Z;1D6E;1DLH;1FV1;1FYT;1H15;1HQR;1HXY;1J8H;1JWM;1JWS;1JWU;1KG0;1KLG;1KLU;1LO5;1PYW;1R5I;1SEB;1SJE;1SJH;1T5W;1T5X;1YMM;1ZGL;2FSE;2G9H;2IAM;2IAN;2ICW;2IPK;2OJE;2Q6W;2SEB;2WBJ;2XN9;3C5J;3L6F;3O6F;3PDO;3PGC;3PGD;3QXA;3QXD;3S4S;3S5L;3T0E;4AEN;4AH2;4C56;4E41;4FQX;4GBX;4H1L;4H25;4H26;4I5B;4IS6;4MCY;4MCZ;4MD0;4MD4;4MD5;4MDI;4MDJ;4OV5;4X5W;4X5X;4Y19;4Y1A;5JLZ;5LAX;5NI9;5NIG;5V4M;5V4N;6ATF;6ATI;6ATZ;6BIJ;6BIL;6BIN;6BIR;6BIV;6BIX;6BIY;6BIZ;6CPL;6CPN;6CPO;6CQJ;6CQL;6CQN;6CQQ;6CQR;

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; 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]; lysosome [GO:0005764]; 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 protein complex binding [GO:0023026]; 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]; antigen processing and presentation of peptide or polysaccharide antigen via MHC class II [GO:0002504]; cognition [GO:0050890]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; peptide antigen assembly with MHC class II protein complex [GO:0002503]; polysaccharide assembly with MHC class II protein complex [GO:0002506]; T cell receptor signaling pathway [GO:0050852]; viral process [GO:0016032]

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: P21917
geneSymbol: DRD4
reactome: R-HSA-390651;R-HSA-418594;
pdb: 5WIU;5WIV;
name: D(4) dopamine receptor (D(2C) dopamine receptor) (Dopamine D4 receptor)
length: 467
snps: rs1800443 rs3889692
sequence:

opentargets:
dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; dopamine binding [GO:0035240]; dopamine neurotransmitter receptor activity [GO:0004952]; dopamine neurotransmitter receptor activity, coupled via Gi/Go [GO:0001591]; drug binding [GO:0008144]; epinephrine binding [GO:0051379]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; neurotransmitter receptor activity [GO:0030594]; norepinephrine binding [GO:0051380]; potassium channel regulator activity [GO:0015459]; SH3 domain binding [GO:0017124]; activation of MAPK activity [GO:0000187]; adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:0007195]; adult locomotory behavior [GO:0008344]; arachidonic acid secretion [GO:0050482]; behavioral fear response [GO:0001662]; behavioral response to cocaine [GO:0048148]; behavioral response to ethanol [GO:0048149]; cellular calcium ion homeostasis [GO:0006874]; chemical synaptic transmission [GO:0007268]; dopamine metabolic process [GO:0042417]; dopamine receptor signaling pathway [GO:0007212]; fear response [GO:0042596]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; inhibitory postsynaptic potential [GO:0060080]; negative regulation of protein secretion [GO:0050709]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; positive regulation of dopamine uptake involved in synaptic transmission [GO:0051586]; positive regulation of kinase activity [GO:0033674]; positive regulation of sodium:proton antiporter activity [GO:0032417]; regulation of circadian rhythm [GO:0042752]; regulation of dopamine metabolic process [GO:0042053]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; response to amphetamine [GO:0001975]; response to histamine [GO:0034776]; rhythmic process [GO:0048511]; social behavior [GO:0035176]

drug:
DB00543;DB00714;DB01238;DB06216;DB01200;DB00248;DB00477;DB00363;DB00988;DB04908;DB04946;DB01235;DB00589;DB00408;DB01403;DB00334;DB01267;DB01186;DB00413;DB00420;DB00777;DB01224;DB00409;DB00734;DB00268;DB05271;DB05280;DB00372;DB00246;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1319557, ECO:0000269|PubMed:16423344, ECO:0000269|PubMed:1840645, ECO:0000269|PubMed:20100572, ECO:0000269|PubMed:27659709, ECO:0000269|PubMed:29051383, ECO:0000269|PubMed:7512953, ECO:0000269|PubMed:7643093, ECO:0000269|PubMed:8078498, ECO:0000269|PubMed:9003072}; Multi-pass membrane protein {ECO:0000269|PubMed:20100572, ECO:0000269|PubMed:29051383}.


uniprotID: Q13474
geneSymbol: DRP2
name: Dystrophin-related protein 2 (DRP-2)
length: 957
go: ENSG00000102385;
snps: rs7066252
sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; perikaryon [GO:0043204]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; zinc ion binding [GO:0008270]; central nervous system development [GO:0007417]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13474-1; Sequence=Displayed; Name=2; IsoId=Q13474-2; Sequence=VSP_042662; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q9EPA0}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9EPA0}. Perikaryon {ECO:0000250|UniProtKB:Q9EPA0}. Cell membrane {ECO:0000250|UniProtKB:Q05AA6}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q05AA6}. Note=Detected in Schwann cells at periaxonal myelin membranes. {ECO:0000250|UniProtKB:Q05AA6}.


uniprotID: P21728
geneSymbol: DRD1
reactome: R-HSA-390651;R-HSA-418555;
pdb: 1OZ5;
name: D(1A) dopamine receptor (Dopamine D1 receptor)
length: 446
go: ENSG00000184845;
snps: rs5327 rs5327 rs5330 rs5331 rs74414188
sequence:

opentargets:
ciliary membrane [GO:0060170]; endoplasmic reticulum membrane [GO:0005789]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; dopamine binding [GO:0035240]; dopamine neurotransmitter receptor activity [GO:0004952]; dopamine neurotransmitter receptor activity, coupled via Gs [GO:0001588]; G-protein alpha-subunit binding [GO:0001965]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adult walking behavior [GO:0007628]; astrocyte development [GO:0014002]; behavioral fear response [GO:0001662]; behavioral response to cocaine [GO:0048148]; cellular response to catecholamine stimulus [GO:0071870]; cellular response to dopamine [GO:1903351]; cerebral cortex GABAergic interneuron migration [GO:0021853]; conditioned taste aversion [GO:0001661]; dentate gyrus development [GO:0021542]; dopamine metabolic process [GO:0042417]; dopamine transport [GO:0015872]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; glucose import [GO:0046323]; grooming behavior [GO:0007625]; habituation [GO:0046959]; histone H3-S10 phosphorylation [GO:0043987]; long-term synaptic depression [GO:0060292]; long-term synaptic potentiation [GO:0060291]; maternal behavior [GO:0042711]; mating behavior [GO:0007617]; memory [GO:0007613]; neuronal action potential [GO:0019228]; operant conditioning [GO:0035106]; peristalsis [GO:0030432]; phospholipase C-activating dopamine receptor signaling pathway [GO:0060158]; positive regulation of cell migration [GO:0030335]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of gene expression [GO:0010628]; positive regulation of potassium ion transport [GO:0043268]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; prepulse inhibition [GO:0060134]; protein import into nucleus [GO:0006606]; regulation of dopamine metabolic process [GO:0042053]; regulation of dopamine uptake involved in synaptic transmission [GO:0051584]; regulation of protein phosphorylation [GO:0001932]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to amphetamine [GO:0001975]; response to drug [GO:0042493]; sensitization [GO:0046960]; striatum development [GO:0021756]; synapse assembly [GO:0007416]; synaptic transmission, dopaminergic [GO:0001963]; temperature homeostasis [GO:0001659]; transmission of nerve impulse [GO:0019226]; vasodilation [GO:0042311]; visual learning [GO:0008542]

drug:
DB01614;DB01063;DB00543;DB00714;DB01238;DB06216;DB01200;DB00248;DB01038;DB00477;DB01239;DB00568;DB00363;DB00988;DB01049;DB00696;DB00800;DB00875;DB00623;DB00502;DB04946;DB00458;DB05816;DB01235;DB00589;DB00408;DB01403;DB00353;DB06148;DB00805;DB00370;DB00334;DB01267;DB01186;DB00850;DB00397;DB01621;DB00413;DB00420;DB01608;DB00777;DB01224;DB00734;DB00268;DB05271;DB00372;DB01622;DB00679;DB01623;DB00508;DB00726;DB00246;DB01624;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Transport from the endoplasmic reticulum to the cell surface is regulated by interaction with DNAJC14. {ECO:0000250}.


uniprotID: P53355
geneSymbol: DAPK1
reactome: R-HSA-418889;
name: Death-associated protein kinase 1 (DAP kinase 1) (EC 2.7.11.1)
length: 1430
go: ENSG00000196730;
drug: DB04395;
snps: rs12343465 rs56327474 rs36214022 rs36215047 rs371784492 rs56169226 rs1056719 rs36220450
pdb:
1IG1;1JKK;1JKL;1JKS;1JKT;1P4F;1WVW;1WVX;1WVY;1YR5;2W4J;2W4K;2X0G;2XUU;2XZS;2Y0A;2Y4P;2Y4V;2YAK;3DFC;3DGK;3EH9;3EHA;3F5G;3F5U;3GU4;3GU5;3GU6;3GU7;3GU8;3GUB;3ZXT;4B4L;4PF4;4TL0;4TXC;4UV0;4YO4;4YPD;5AUT;5AUU;5AUV;5AUW;5AUX;5AUY;5AUZ;5AV0;5AV1;5AV2;5AV3;5AV4;

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; syntaxin-1 binding [GO:0017075]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cellular response to hydroperoxide [GO:0071447]; cellular response to interferon-gamma [GO:0071346]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; negative regulation of translation [GO:0017148]; positive regulation of autophagy [GO:0010508]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of apoptotic process [GO:0042981]; regulation of autophagy [GO:0010506]; regulation of NMDA receptor activity [GO:2000310]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Alpha; IsoId=P53355-1; Sequence=Displayed; Name=2; Synonyms=s-DAPK-1; IsoId=P53355-2; Sequence=VSP_042053, VSP_042054, VSP_042055; Name=3; Synonyms=Beta; IsoId=P53355-3; Sequence=VSP_042056; Name=4; IsoId=P53355-4; Sequence=VSP_054478; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with MAP1B in the microtubules and cortical actin fibers.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Cytoplasm, cytoskeleton.


uniprotID: Q96LJ7
geneSymbol: DHRS1
pdb: 2QQ5;
length: 313
go: ENSG00000157379;
opentargets: endoplasmic reticulum [GO:0005783]; oxidoreductase activity [GO:0016491]
snps: rs10134537
name:
Dehydrogenase/reductase SDR family member 1 (EC 1.1.-.-) (Short chain dehydrogenase/reductase family 19C member 1)

sequence:


uniprotID: Q8IY37
geneSymbol: DHX37
reactome: R-HSA-6790901;R-HSA-6791226;
name: Probable ATP-dependent RNA helicase DHX37 (EC 3.6.4.13) (DEAH box protein 37)
length: 1157
go: ENSG00000150990;
snps: rs11558556 rs11057939 rs35165507 rs35016004 rs4516060 rs4447263
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; rRNA processing [GO:0006364]


uniprotID: Q9Y394
geneSymbol: DHRS7
length: 339
go: ENSG00000100612;
opentargets: membrane [GO:0016020]; oxidoreductase activity [GO:0016491]
snps: rs34583017
name:
Dehydrogenase/reductase SDR family member 7 (EC 1.1.-.-) (Retinal short-chain dehydrogenase/reductase 4) (retSDR4) (Short chain dehydrogenase/reductase family 34C member 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y394-1; Sequence=Displayed; Name=2; IsoId=Q9Y394-2; Sequence=VSP_008103; Note=No experimental confirmation available.; 


uniprotID: Q08211
geneSymbol: DHX9
reactome: R-HSA-1810476;R-HSA-3134963;R-HSA-72163;
pdb: 3LLM;3VYX;3VYY;
length: 1270
go: ENSG00000135829;
snps: rs1049264
name:
ATP-dependent RNA helicase A (EC 3.6.4.13) (DEAH box protein 9) (DExH-box helicase 9) (Leukophysin) (LKP) (Nuclear DNA helicase II) (NDH II) (RNA helicase A)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; centrosome [GO:0005813]; CRD-mediated mRNA stability complex [GO:0070937]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; membrane [GO:0016020]; micro-ribonucleoprotein complex [GO:0035068]; nuclear body [GO:0016604]; nuclear stress granule [GO:0097165]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perichromatin fibrils [GO:0005726]; polysomal ribosome [GO:0042788]; polysome [GO:0005844]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; RISC-loading complex [GO:0070578]; ATP binding [GO:0005524]; ATP-dependent 3'-5' DNA helicase activity [GO:0043140]; ATP-dependent 3'-5' DNA/RNA helicase activity [GO:0033681]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; ATP-dependent DNA helicase activity [GO:0004003]; ATP-dependent RNA helicase activity [GO:0004004]; ATPase activity [GO:0016887]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA replication origin binding [GO:0003688]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; importin-alpha family protein binding [GO:0061676]; metal ion binding [GO:0046872]; mRNA binding [GO:0003729]; nucleoside-triphosphatase activity [GO:0017111]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; polysome binding [GO:1905538]; promoter-specific chromatin binding [GO:1990841]; regulatory region RNA binding [GO:0001069]; RISC complex binding [GO:1905172]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; RNA polymerase binding [GO:0070063]; RNA polymerase II complex binding [GO:0000993]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; RNA stem-loop binding [GO:0035613]; sequence-specific mRNA binding [GO:1990825]; single-stranded DNA binding [GO:0003697]; single-stranded DNA-dependent ATP-dependent 3'-5' DNA helicase activity [GO:1990518]; single-stranded RNA binding [GO:0003727]; siRNA binding [GO:0035197]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; triplex DNA binding [GO:0045142]; alternative mRNA splicing, via spliceosome [GO:0000380]; cellular response to exogenous dsRNA [GO:0071360]; cellular response to tumor necrosis factor [GO:0071356]; CRD-mediated mRNA stabilization [GO:0070934]; DNA duplex unwinding [GO:0032508]; DNA replication [GO:0006260]; DNA-templated transcription, termination [GO:0006353]; DNA-templated viral transcription [GO:0039695]; G-quadruplex DNA unwinding [GO:0044806]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; mRNA splicing, via spliceosome [GO:0000398]; mRNA transport [GO:0051028]; osteoblast differentiation [GO:0001649]; positive regulation of cytoplasmic translation [GO:2000767]; positive regulation of DNA repair [GO:0045739]; positive regulation of DNA replication [GO:0045740]; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity [GO:2000373]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene silencing by miRNA [GO:2000637]; positive regulation of inflammatory response [GO:0050729]; positive regulation of innate immune response [GO:0045089]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interferon-beta secretion [GO:0035549]; positive regulation of interleukin-18 production [GO:0032741]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of polysome binding [GO:1905698]; positive regulation of response to cytokine stimulus [GO:0060760]; positive regulation of RNA export from nucleus [GO:0046833]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor secretion [GO:1904469]; positive regulation of type I interferon production [GO:0032481]; positive regulation of viral transcription [GO:0050434]; positive regulation of viral translation [GO:1904973]; protein localization to cytoplasmic stress granule [GO:1903608]; pyroptosis [GO:0070269]; regulation of cytoplasmic translation [GO:2000765]; regulation of defense response to virus by host [GO:0050691]; regulation of mRNA processing [GO:0050684]; regulation of transcription by RNA polymerase II [GO:0006357]; rhythmic process [GO:0048511]; RNA secondary structure unwinding [GO:0010501]; small RNA loading onto RISC [GO:0070922]; targeting of mRNA for destruction involved in RNA interference [GO:0030423]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08211-1; Sequence=Displayed; Name=2; Synonyms=Leukophysin, LKP; IsoId=Q08211-2; Sequence=VSP_042314; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10198287, ECO:0000269|PubMed:10207077, ECO:0000269|PubMed:11687588, ECO:0000269|PubMed:16375861, ECO:0000269|PubMed:17303075, ECO:0000269|PubMed:9162007}. Nucleus, nucleoplasm {ECO:0000269|PubMed:28221134}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Cytoplasm {ECO:0000269|PubMed:10198287, ECO:0000269|PubMed:10207077, ECO:0000269|PubMed:16375861, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:19029303, ECO:0000269|PubMed:20696886, ECO:0000269|PubMed:8690889, ECO:0000269|PubMed:9162007}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:17498979}. Note=Nucleoplasmic shuttling protein (PubMed:10198287, PubMed:16375861, PubMed:10207077, PubMed:9162007). Its nuclear import involves the nucleocytoplasmic transport receptor Importin alpha/Importin beta receptor pathway in a Ran-dependent manner (PubMed:16375861). In interphase, localizes in nuclear stress granules and at perichromatin fibrils and in cytoplasmic ribonucleoprotein granules (PubMed:10198287). Colocalizes with WRN and H2AFX at centrosomes in a microtubule-dependent manner following DNA damaging agent treatment (PubMed:17498979). Excluded from the mitotic nucleus as early as prophase and re-entered the nucleus at telophase (PubMed:10198287). Recruited in diffuse and discrete intranuclear foci (GLFG-body) in a NUP98-dependent manner (PubMed:28221134). Colocalizes with SP7 in the nucleus (PubMed:17303075). Colocalizes with ACTB at nuclear actin filaments inside the nucleus or at the nuclear pore (PubMed:11687588). Colocalizes with HNRNPC at nuclear ribonucleoprotein complex proteins in the nucleus (PubMed:11687588). Localized in cytoplasmic mRNP granules containing untranslated mRNAs (PubMed:17289661). {ECO:0000269|PubMed:10198287, ECO:0000269|PubMed:10207077, ECO:0000269|PubMed:11687588, ECO:0000269|PubMed:16375861, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:17303075, ECO:0000269|PubMed:17498979, ECO:0000269|PubMed:28221134, ECO:0000269|PubMed:9162007}.


uniprotID: O60231
geneSymbol: DHX16
reactome: R-HSA-72163;
pdb: 5Z56;5Z57;5Z58;
length: 1041
go: ENSG00000204560;
snps: rs17189239 rs17189232 rs9262138
name:
Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 (EC 3.6.4.13) (ATP-dependent RNA helicase #3) (DEAH-box protein 16)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; ATPase activity [GO:0016887]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20423332, ECO:0000269|PubMed:20841358, ECO:0000269|PubMed:25296192}. Nucleus, nucleoplasm {ECO:0000269|PubMed:20423332}.


uniprotID: Q9H5Z1
geneSymbol: DHX35
name: Probable ATP-dependent RNA helicase DHX35 (EC 3.6.4.13) (DEAH box protein 35)
length: 703
go: ENSG00000101452;
snps: rs36053162 rs3752302
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H5Z1-1; Sequence=Displayed; Name=2; IsoId=Q9H5Z1-2; Sequence=VSP_047178; Note=No experimental confirmation available.; 


uniprotID: Q9P265
geneSymbol: DIP2B
name: Disco-interacting protein 2 homolog B (DIP2 homolog B)
length: 1576
go: ENSG00000066084;
snps: rs11169525
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; catalytic activity [GO:0003824]


uniprotID: Q9NRI5
geneSymbol: DISC1
pdb: 5V4B;
name: Disrupted in schizophrenia 1 protein
length: 854
go: ENSG00000162946;
snps: rs3738400 rs56020408 rs3738401 rs55795950 rs34622148 rs56229136 rs6675281 rs821616
sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; ciliary base [GO:0097546]; intermediate filament cytoskeleton [GO:0045111]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of protein binding [GO:0032091]; neuron migration [GO:0001764]; non-motile cilium assembly [GO:1905515]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of Wnt signaling pathway [GO:0030177]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist. More than 50 different isoforms are produced in the brain.; Name=1; Synonyms=L; IsoId=Q9NRI5-1; Sequence=Displayed; Note=Non-canonical donor and acceptor splice sites for the last 2 exons. {ECO:0000305}; Name=2; Synonyms=LV; IsoId=Q9NRI5-2; Sequence=VSP_003849; Note=Non-canonical donor and acceptor splice sites for the last 2 exons. {ECO:0000305}; Name=3; Synonyms=S; IsoId=Q9NRI5-3; Sequence=VSP_019316, VSP_019317; Name=4; Synonyms=ES; IsoId=Q9NRI5-4; Sequence=VSP_019314, VSP_019315; Name=5; Synonyms=26; IsoId=Q9NRI5-5; Sequence=VSP_043214; Name=6; IsoId=Q9NRI5-6; Sequence=VSP_043585, VSP_043586; Name=7; IsoId=Q9NRI5-7; Sequence=VSP_043583, VSP_043584, VSP_043586; Name=8; IsoId=Q9NRI5-8; Sequence=VSP_043587, VSP_043588; Name=9; IsoId=Q9NRI5-9; Sequence=VSP_047530, VSP_047531; Name=10; IsoId=Q9NRI5-10; Sequence=VSP_047526, VSP_047527; Name=11; IsoId=Q9NRI5-11; Sequence=VSP_047525, VSP_047528, VSP_047529; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:15797709}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:14962739, ECO:0000269|PubMed:15797709}. Mitochondrion {ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:15797709}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12812986, ECO:0000269|PubMed:18955030}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q811T9}. Note=Colocalizes with NDEL1 in the perinuclear region and the centrosome (By similarity). Localizes to punctate cytoplasmic foci which overlap in part with mitochondria (PubMed:12506198, PubMed:15797709). Colocalizes with PCNT at the centrosome (PubMed:18955030). {ECO:0000250|UniProtKB:Q811T9, ECO:0000269|PubMed:12506198, ECO:0000269|PubMed:15797709, ECO:0000269|PubMed:18955030}.


uniprotID: Q9UKB3
geneSymbol: DNAJC12
pdb: 2CTQ;
name: DnaJ homolog subfamily C member 12 (J domain-containing protein 1)
length: 198
go: ENSG00000108176;
opentargets: cytoplasm [GO:0005737]
snps: rs35690028 rs36099123
location: SUBCELLULAR LOCATION: Isoform a: Cytoplasm {ECO:0000269|PubMed:24122553}.
sequence:
MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPDKHPENPKAVETFQKLQKAKEILTNEESRARYDHWRRSQMSMPFQQWEALNDSVKTSMHWVVRGKKDLMLEESDKTHTTKMENEECNEQRERKKEELASTAEKTEQKEPKPLEKSVSPQNSDSSGFADVNGWHLRFRWSKDAPSELLRKFRNYEI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=a; Synonyms=JDP1a; IsoId=Q9UKB3-1; Sequence=Displayed; Name=B; Synonyms=JDP1b; IsoId=Q9UKB3-2; Sequence=VSP_001295, VSP_001296; 


uniprotID: Q9Y2G8
geneSymbol: DNAJC16
name: DnaJ homolog subfamily C member 16
length: 782
go: ENSG00000116138;
opentargets: cell [GO:0005623]; integral component of membrane [GO:0016021]; cell redox homeostasis [GO:0045454]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2G8-1; Sequence=Displayed; Name=2; IsoId=Q9Y2G8-2; Sequence=VSP_018583; 


uniprotID: Q9H819
geneSymbol: DNAJC18
name: DnaJ homolog subfamily C member 18
length: 358
go: ENSG00000170464;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9UBS4
geneSymbol: DNAJB11
reactome: R-HSA-381038;
length: 358
go: ENSG00000090520;
snps: rs8147
name:
DnaJ homolog subfamily B member 11 (APOBEC1-binding protein 2) (ABBP-2) (DnaJ protein homolog 9) (ER-associated DNAJ) (ER-associated Hsp40 co-chaperone) (Endoplasmic reticulum DNA J domain-containing protein 3) (ER-resident protein ERdj3) (ERdj3) (ERj3p) (HEDJ) (Human DnaJ protein 9) (hDj-9) (PWP1-interacting protein 4)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; membrane [GO:0016020]; unfolded protein binding [GO:0051082]; IRE1-mediated unfolded protein response [GO:0036498]; positive regulation of ATPase activity [GO:0032781]; protein folding [GO:0006457]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:10827079, ECO:0000269|PubMed:15195998, ECO:0000269|PubMed:15525676, ECO:0000269|PubMed:15544163}. Note=Associated with the ER membrane in a C-terminally epitope-tagged construct.


uniprotID: Q8N4W6
geneSymbol: DNAJC22
name: DnaJ homolog subfamily C member 22
length: 341
go: ENSG00000178401;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8TBM8
geneSymbol: DNAJB14
name: DnaJ homolog subfamily B member 14
length: 379
go: ENSG00000164031;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; Hsp70 protein binding [GO:0030544]; cellular protein-containing complex assembly [GO:0034622]; chaperone cofactor-dependent protein refolding [GO:0051085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBM8-1; Sequence=Displayed; Name=2; IsoId=Q8TBM8-2; Sequence=VSP_024006, VSP_024007; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23018488, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}; Single-pass membrane protein {ECO:0000255}. Nucleus membrane {ECO:0000269|PubMed:24732912}; Single-pass membrane protein {ECO:0000255}. Note=Localizes to the endoplasmic reticulum membrane (PubMed:23018488, PubMed:24732912, PubMed:27916661). When overexpressed, forms membranous structures in the nucleus (PubMed:24732912). {ECO:0000269|PubMed:23018488, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}.


uniprotID: Q8IXB1
geneSymbol: DNAJC10
length: 793
go: ENSG00000077232;
snps: rs6729801 rs13414223 rs11681366 rs288334
name:
DnaJ homolog subfamily C member 10 (EC 1.8.4.-) (Endoplasmic reticulum DNA J domain-containing protein 5) (ER-resident protein ERdj5) (ERdj5) (Macrothioredoxin) (MTHr)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; membrane [GO:0016020]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; chaperone binding [GO:0051087]; disulfide oxidoreductase activity [GO:0015036]; Hsp70 protein binding [GO:0030544]; misfolded protein binding [GO:0051787]; oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor [GO:0016671]; protein disulfide oxidoreductase activity [GO:0015035]; cell redox homeostasis [GO:0045454]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of ATPase activity [GO:0032781]; protein folding in endoplasmic reticulum [GO:0034975]; response to endoplasmic reticulum stress [GO:0034976]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IXB1-1; Sequence=Displayed; Name=2; IsoId=Q8IXB1-2; Sequence=VSP_024011; Name=3; IsoId=Q8IXB1-3; Sequence=VSP_054434, VSP_054435; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:12411443, ECO:0000269|PubMed:23769672}.


uniprotID: O95886
geneSymbol: DLGAP3
reactome: R-HSA-6794361;
length: 979
go: ENSG00000116544;
snps: rs758215471
name:
Disks large-associated protein 3 (DAP-3) (PSD-95/SAP90-binding protein 3) (SAP90/PSD-95-associated protein 3) (SAPAP3)

sequence:

opentargets:
cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; glutamatergic synapse [GO:0098978]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; amyloid-beta binding [GO:0001540]; modification of synaptic structure [GO:0099563]; signaling [GO:0023052]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Postsynaptic density of neuronal cells. {ECO:0000250}.


uniprotID: P78352
geneSymbol: DLG4
pdb: 1KEF;2MES;3I4W;3K82;3ZRT;5J7J;5JXB;5OHW;5OI4;5OI6;5OIB;5OIG;5OIH;5OII;5OIJ;
length: 724
go: ENSG00000132535;
drug: DB00536;DB01972;
reactome:
R-HSA-399719;R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-447038;R-HSA-451308;R-HSA-5625900;R-HSA-5673001;R-HSA-5682910;R-HSA-6794361;R-HSA-8849932;

name:
Disks large homolog 4 (Postsynaptic density protein 95) (PSD-95) (Synapse-associated protein 90) (SAP-90) (SAP90)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; dendritic spine [GO:0043197]; endocytic vesicle membrane [GO:0030666]; endoplasmic reticulum [GO:0005783]; excitatory synapse [GO:0060076]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; juxtaparanode region of axon [GO:0044224]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; neuron projection terminus [GO:0044306]; neuron spine [GO:0044309]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; acetylcholine receptor binding [GO:0033130]; beta-1 adrenergic receptor binding [GO:0031697]; D1 dopamine receptor binding [GO:0031748]; ionotropic glutamate receptor binding [GO:0035255]; kinase binding [GO:0019900]; ligand-gated ion channel activity [GO:0015276]; neuroligin family protein binding [GO:0097109]; P2Y1 nucleotide receptor binding [GO:0031812]; PDZ domain binding [GO:0030165]; protein C-terminus binding [GO:0008022]; protein phosphatase binding [GO:0019903]; protein-containing complex binding [GO:0044877]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; scaffold protein binding [GO:0097110]; AMPA glutamate receptor clustering [GO:0097113]; cell-cell adhesion [GO:0098609]; cellular response to potassium ion [GO:0035865]; chemical synaptic transmission [GO:0007268]; dendritic spine morphogenesis [GO:0060997]; establishment of protein localization [GO:0045184]; learning [GO:0007612]; MAPK cascade [GO:0000165]; negative regulation of receptor internalization [GO:0002091]; nervous system development [GO:0007399]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of synaptic transmission [GO:0050806]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; protein localization to synapse [GO:0035418]; protein-containing complex assembly [GO:0065003]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of NMDA receptor activity [GO:2000310]; signal transduction [GO:0007165]; synaptic vesicle maturation [GO:0016188]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=PSD95-alpha; IsoId=P78352-1; Sequence=Displayed; Name=2; Synonyms=PSD95-beta; IsoId=P78352-2; Sequence=VSP_014929; Name=3; IsoId=P78352-3; Sequence=VSP_047247; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12151521}; Lipid-anchor {ECO:0000269|PubMed:12151521}; Cytoplasmic side {ECO:0000269|PubMed:12151521}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:P31016}. Cell junction, synapse {ECO:0000269|PubMed:12151521}. Cytoplasm {ECO:0000250|UniProtKB:P31016}. Cell projection, axon {ECO:0000250|UniProtKB:P31016}. Note=High levels in postsynaptic density of neurons in the forebrain. Also in presynaptic region of inhibitory synapses formed by cerebellar basket cells on axon hillocks of Purkinje cells. {ECO:0000250|UniProtKB:P31016}.


uniprotID: P80370
geneSymbol: DLK1
reactome: R-HSA-2122948;
name: Protein delta homolog 1 (DLK-1) (pG2) [Cleaved into: Fetal antigen 1 (FA1)]
length: 383
go: ENSG00000185559;
snps: rs34686110 rs6575799 rs2273607 rs1058006 rs1058009
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; cell differentiation [GO:0030154]; negative regulation of Notch signaling pathway [GO:0045746]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=Long; IsoId=P80370-1; Sequence=Displayed; Name=Short; IsoId=P80370-2; Sequence=VSP_001377; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cytoplasm {ECO:0000250|UniProtKB:O70534}.


uniprotID: Q9H201
geneSymbol: EPN3
name: Epsin-3 (EPS-15-interacting protein 3)
length: 632
go: ENSG00000049283;
snps: rs4794159
sequence:

opentargets:
clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; extracellular exosome [GO:0070062]; extrinsic component of plasma membrane [GO:0019897]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; EH domain binding [GO:1990175]; lipid binding [GO:0008289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H201-1; Sequence=Displayed; Name=2; IsoId=Q9H201-2; Sequence=VSP_009158, VSP_009159; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11359770}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:11359770}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:11359770}. Nucleus {ECO:0000305|PubMed:11359770}. Note=Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the cell periphery. May shuttle to the nucleus.


uniprotID: P56179
geneSymbol: DLX6
reactome: R-HSA-8939902;
name: Homeobox protein DLX-6
length: 175
go: ENSG00000006377;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:
MSHSQHSPYLQSYHNSSAAAQTRGDDTDQQKTTVIENGEIRFNGKGKKIRKPRTIYSSLQLQALNHRFQQTQYLALPERAELAASLGLTQTQVKIWFQNKRSKFKKLLKQGSNPHESDPLQGSAALSPRSPALPPVWDVSASAKGVSMPPNSYMPGYSHWYSSPHQDTMQRPQMM

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure formation involved in morphogenesis [GO:0048646]; embryonic limb morphogenesis [GO:0030326]; epithelial cell differentiation [GO:0030855]; head development [GO:0060322]; inner ear morphogenesis [GO:0042472]; nervous system development [GO:0007399]; positive regulation of epithelial cell proliferation [GO:0050679]; roof of mouth development [GO:0060021]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P56179-1; Sequence=Displayed; Name=2; IsoId=P56179-2; Sequence=VSP_040732; Name=3; IsoId=P56179-3; Sequence=VSP_047248; 


uniprotID: Q96SC8
geneSymbol: DMRTA2
length: 542
go: ENSG00000142700;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
name:
Doublesex- and mab-3-related transcription factor A2 (Doublesex- and mab-3-related transcription factor 5)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; sequence-specific DNA binding [GO:0043565]; cerebral cortex regionalization [GO:0021796]; dopaminergic neuron differentiation [GO:0071542]; neuron fate specification [GO:0048665]; positive regulation of neuroblast proliferation [GO:0002052]; skeletal muscle cell differentiation [GO:0035914]


uniprotID: Q8NHS0
geneSymbol: DNAJB8
pdb: 2DMX;
name: DnaJ homolog subfamily B member 8
length: 232
go: ENSG00000179407;
snps: rs35948511
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; chaperone-mediated protein folding [GO:0061077]; negative regulation of inclusion body assembly [GO:0090084]


uniprotID: P31689
geneSymbol: DNAJA1
reactome: R-HSA-3371497;
pdb: 2LO1;2M6Y;
length: 397
go: ENSG00000086061;
name:
DnaJ homolog subfamily A member 1 (DnaJ protein homolog 2) (HSDJ) (Heat shock 40 kDa protein 4) (Heat shock protein J2) (HSJ-2) (Human DnaJ protein 2) (hDj-2)

sequence:

opentargets:
cytoplasmic side of endoplasmic reticulum membrane [GO:0098554]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; ATPase activator activity [GO:0001671]; C3HC4-type RING finger domain binding [GO:0055131]; chaperone binding [GO:0051087]; G protein-coupled receptor binding [GO:0001664]; Hsp70 protein binding [GO:0030544]; low-density lipoprotein particle receptor binding [GO:0050750]; metal ion binding [GO:0046872]; Tat protein binding [GO:0030957]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; androgen receptor signaling pathway [GO:0030521]; DNA damage response, detection of DNA damage [GO:0042769]; flagellated sperm motility [GO:0030317]; negative regulation of apoptotic process [GO:0043066]; negative regulation of establishment of protein localization to mitochondrion [GO:1903748]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway [GO:1905259]; negative regulation of protein ubiquitination [GO:0031397]; positive regulation of apoptotic process [GO:0043065]; protein folding [GO:0006457]; protein localization to mitochondrion [GO:0070585]; regulation of protein transport [GO:0051223]; response to heat [GO:0009408]; response to unfolded protein [GO:0006986]; spermatogenesis [GO:0007283]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31689-1; Sequence=Displayed; Name=2; Synonyms=nDnaJA1; IsoId=P31689-2; Sequence=VSP_046566; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:10816573}; Lipid-anchor {ECO:0000305|PubMed:10816573}. Cytoplasm {ECO:0000269|PubMed:10816573}. Microsome {ECO:0000250}. Nucleus {ECO:0000269|PubMed:10816573}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:10816573}. Mitochondrion {ECO:0000250}. Note=Primarily associated with microsomes. A minor proportion is associated with mitochondria (By similarity). Primarily cytoplasmic. A minor proportion is associated with nuclei. {ECO:0000250}.


uniprotID: Q99543
geneSymbol: DNAJC2
reactome: R-HSA-3371453;
pdb: 2M2E;
length: 621
go: ENSG00000105821;
name:
DnaJ homolog subfamily C member 2 (M-phase phosphoprotein 11) (Zuotin-related factor 1) [Cleaved into: DnaJ homolog subfamily C member 2, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATPase activator activity [GO:0001671]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone binding [GO:0042393]; Hsp70 protein binding [GO:0030544]; RNA binding [GO:0003723]; ubiquitin modification-dependent histone binding [GO:0061649]; 'de novo' cotranslational protein folding [GO:0051083]; chromatin organization [GO:0006325]; DNA replication [GO:0006260]; negative regulation of DNA biosynthetic process [GO:2000279]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cellular response to heat [GO:1900034]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99543-1; Sequence=Displayed; Name=2; IsoId=Q99543-2; Sequence=VSP_023562; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21179169}. Cytoplasm, cytosol {ECO:0000269|PubMed:16002468, ECO:0000269|PubMed:21179169}.


uniprotID: Q96EY1
geneSymbol: DNAJA3
pdb: 2CTT;2DN9;
length: 480
go: ENSG00000103423;
snps: rs1139653
name:
DnaJ homolog subfamily A member 3, mitochondrial (DnaJ protein Tid-1) (hTid-1) (Hepatocellular carcinoma-associated antigen 57) (Tumorous imaginal discs protein Tid56 homolog)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of plasma membrane [GO:0019897]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; neuromuscular junction [GO:0031594]; nucleus [GO:0005634]; postsynaptic membrane [GO:0045211]; ATP binding [GO:0005524]; GTPase regulator activity [GO:0030695]; Hsp70 protein binding [GO:0030544]; IkappaB kinase complex binding [GO:0106137]; interferon-gamma receptor binding [GO:0005133]; metal ion binding [GO:0046872]; NF-kappaB binding [GO:0051059]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; transcription factor binding [GO:0008134]; unfolded protein binding [GO:0051082]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation-induced cell death of T cells [GO:0006924]; cell aging [GO:0007569]; mitochondrial DNA replication [GO:0006264]; mitochondrion organization [GO:0007005]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of programmed cell death [GO:0043069]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuromuscular junction development [GO:0007528]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of T cell proliferation [GO:0042102]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; response to heat [GO:0009408]; response to interferon-gamma [GO:0034341]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]; small GTPase mediated signal transduction [GO:0007264]; T cell differentiation in thymus [GO:0033077]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Tid-1(L); IsoId=Q96EY1-1; Sequence=Displayed; Name=2; Synonyms=Tid-1(S); IsoId=Q96EY1-2; Sequence=VSP_007425, VSP_007426; Name=3; IsoId=Q96EY1-3; Sequence=VSP_055728, VSP_007425, VSP_007426; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix. Cytoplasm, cytosol {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Recruited to the postsynaptic cell membrane of the neuromuscular junction through interaction with MUSK. {ECO:0000250}.


uniprotID: Q13217
geneSymbol: DNAJC3
reactome: R-HSA-192823;R-HSA-381038;R-HSA-381426;R-HSA-6798695;R-HSA-8957275;
pdb: 2Y4T;2Y4U;
length: 504
go: ENSG00000102580;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}.
name:
DnaJ homolog subfamily C member 3 (Endoplasmic reticulum DNA J domain-containing protein 6) (ER-resident protein ERdj6) (ERdj6) (Interferon-induced, double-stranded RNA-activated protein kinase inhibitor) (Protein kinase inhibitor of 58 kDa) (Protein kinase inhibitor p58)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular vesicle [GO:1903561]; membrane [GO:0016020]; smooth endoplasmic reticulum [GO:0005790]; chaperone binding [GO:0051087]; misfolded protein binding [GO:0051787]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; unfolded protein binding [GO:0051082]; cellular protein metabolic process [GO:0044267]; cellular response to cold [GO:0070417]; defense response to virus [GO:0051607]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of apoptotic process [GO:0043066]; negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation [GO:1903912]; neutrophil degranulation [GO:0043312]; positive regulation of translation initiation in response to endoplasmic reticulum stress [GO:0036494]; post-translational protein modification [GO:0043687]; protein folding in endoplasmic reticulum [GO:0034975]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: P25685
geneSymbol: DNAJB1
reactome: R-HSA-3371453;R-HSA-3371497;R-HSA-3371568;R-HSA-3371571;R-HSA-5687128;
pdb: 1HDJ;2QLD;3AGX;3AGY;3AGZ;4WB7;
length: 340
go: ENSG00000132002;
name:
DnaJ homolog subfamily B member 1 (DnaJ protein homolog 1) (Heat shock 40 kDa protein 1) (HSP40) (Heat shock protein 40) (Human DnaJ protein 1) (hDj-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; sperm head [GO:0061827]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; cadherin binding [GO:0045296]; chaperone binding [GO:0051087]; Hsp70 protein binding [GO:0030544]; transcription corepressor activity [GO:0003714]; unfolded protein binding [GO:0051082]; chaperone cofactor-dependent protein refolding [GO:0051085]; forebrain development [GO:0030900]; negative regulation of inclusion body assembly [GO:0090084]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter in response to stress [GO:0097201]; positive regulation of ATPase activity [GO:0032781]; regulation of cellular response to heat [GO:1900034]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25685-1; Sequence=Displayed; Name=2; IsoId=P25685-2; Sequence=VSP_056414; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1586970}. Nucleus {ECO:0000269|PubMed:1586970}. Nucleus, nucleolus {ECO:0000269|PubMed:1586970}. Note=Translocates rapidly from the cytoplasm to the nucleus, and especially to the nucleoli, upon heat shock.


uniprotID: Q9H3Z4
geneSymbol: DNAJC5
reactome: R-HSA-6798695;R-HSA-888590;
pdb: 2N04;2N05;
length: 198
go: ENSG00000101152;
snps: rs387907043
name:
DnaJ homolog subfamily C member 5 (Ceroid-lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP)

sequence:
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHAILTDATKRNIYDKYGSLGLYVAEQFGEENVNTYFVLSSWWAKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKAPEGEETEFYVSPEDLEAQLQSDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN

opentargets:
anchored component of synaptic vesicle membrane [GO:0098993]; azurophil granule membrane [GO:0035577]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; membrane [GO:0016020]; mitochondrion [GO:0005739]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; ATP-dependent protein binding [GO:0043008]; chaperone-mediated protein folding [GO:0061077]; exocytosis [GO:0006887]; negative regulation of neuron apoptotic process [GO:0043524]; neutrophil degranulation [GO:0043312]; regulated exocytosis [GO:0045055]; regulation of synaptic vesicle cycle [GO:0098693]; synaptic vesicle exocytosis [GO:0016079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3Z4-1; Sequence=Displayed; Name=2; IsoId=Q9H3Z4-2; Sequence=VSP_001292; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P60904}; Lipid-anchor {ECO:0000250|UniProtKB:P60904}. Melanosome {ECO:0000269|PubMed:17081065}. Cell membrane {ECO:0000269|PubMed:21820099}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.


uniprotID: Q9UDY4
geneSymbol: DNAJB4
length: 337
go: ENSG00000162616;
name:
DnaJ homolog subfamily B member 4 (Heat shock 40 kDa protein 1 homolog) (HSP40 homolog) (Heat shock protein 40 homolog) (Human liver DnaJ-like protein)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]; unfolded protein binding [GO:0051082]; chaperone cofactor-dependent protein refolding [GO:0051085]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to heat [GO:0009408]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18837411}. Cell membrane {ECO:0000269|PubMed:16542645}. Note=Cytoplasmic according to PubMed:18837411 and membrane-associated according to PubMed:16542645.


uniprotID: Q8WXX5
geneSymbol: DNAJC9
name: DnaJ homolog subfamily C member 9 (HDJC9) (DnaJ protein SB73)
length: 260
go: ENSG00000213551;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; heat shock protein binding [GO:0031072]; positive regulation of ATPase activity [GO:0032781]; social behavior [GO:0035176]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17182002}. Cytoplasm {ECO:0000269|PubMed:17182002}. Cell membrane {ECO:0000269|PubMed:17182002}. Note=Predominantly nuclear. Translocates to the cytoplasm and membrane after heat shock. {ECO:0000269|PubMed:17182002}.


uniprotID: P62495
geneSymbol: ETF1
reactome: R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;
length: 437
go: ENSG00000120705;
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1DT9;2HST;2KTU;2KTV;2LGT;2LLX;2MQ6;2MQ9;3E1Y;3J5Y;3JAG;3JAH;3JAI;4D5N;4D61;5A8L;5LZT;5LZU;5LZV;6D90;

name:
Eukaryotic peptide chain release factor subunit 1 (Eukaryotic release factor 1) (eRF1) (Protein Cl1) (TB3-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; translation release factor complex [GO:0018444]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; sequence-specific mRNA binding [GO:1990825]; translation release factor activity [GO:0003747]; translation release factor activity, codon specific [GO:0016149]; translation termination factor activity [GO:0008079]; cytoplasmic translational termination [GO:0002184]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; protein methylation [GO:0006479]; regulation of translational termination [GO:0006449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62495-1; Sequence=Displayed; Name=2; IsoId=P62495-2; Sequence=VSP_056189; 


uniprotID: Q969X5
geneSymbol: ERGIC1
length: 290
go: ENSG00000113719;
name:
Endoplasmic reticulum-Golgi intermediate compartment protein 1 (ER-Golgi intermediate compartment 32 kDa protein) (ERGIC-32)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ER to Golgi vesicle-mediated transport [GO:0006888]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969X5-1; Sequence=Displayed; Name=2; IsoId=Q969X5-2; Sequence=VSP_011560; Note=No experimental confirmation available.; Name=3; IsoId=Q969X5-3; Sequence=VSP_011561, VSP_011562, VSP_011563, VSP_011564; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Golgi apparatus membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Note=Cycles between the endoplasmic reticulum and the Golgi.


uniprotID: Q8IV48
geneSymbol: ERI1
reactome: R-HSA-6791226;
pdb: 1W0H;1ZBH;1ZBU;4L8R;4QOZ;
length: 349
go: ENSG00000104626;
snps: rs2288672
name:
3'-5' exoribonuclease 1 (EC 3.1.-.-) (3'-5' exonuclease ERI1) (Eri-1 homolog) (Histone mRNA 3'-end-specific exoribonuclease) (Histone mRNA 3'-exonuclease 1) (Protein 3'hExo) (HEXO)

sequence:

opentargets:
cytoplasm [GO:0005737]; histone pre-mRNA 3'end processing complex [GO:0071204]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 3'-5' exonuclease activity [GO:0008408]; 3'-5'-exoribonuclease activity [GO:0000175]; histone pre-mRNA stem-loop binding [GO:0071207]; metal ion binding [GO:0046872]; ribosome binding [GO:0043022]; rRNA binding [GO:0019843]; DNA catabolic process, exonucleolytic [GO:0000738]; exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000467]; gene silencing by RNA [GO:0031047]; rRNA 3'-end processing [GO:0031125]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16912046}. Nucleus {ECO:0000269|PubMed:16912046}. Nucleus, nucleolus {ECO:0000269|PubMed:16912046}.


uniprotID: Q5W0A0
geneSymbol: ERICH6B
name: Glutamate-rich protein 6B (Protein FAM194B)
length: 696
sequence:

snps:
rs12020217 rs12020731 rs17066954 rs3014939 rs11618506 rs749071 rs12429125 rs17066902 rs7327901 rs1536207 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5W0A0-1; Sequence=Displayed; Name=2; IsoId=Q5W0A0-2; Sequence=VSP_032523; Note=No experimental confirmation available.; 


uniprotID: O76042
geneSymbol: ERC2-IT1
name: Putative uncharacterized protein encoded by ERC2-IT1 (ERC2 intronic transcript protein 1) (PO42)
length: 136
sequence:
MLACFPCFLRRKMPCLLKVADAGCSVGLGKVHCSCHLPNPRVLRHCDILTGVLTLGLDMSCHACLSAGTGLGEELVGLGPGSTCLVKHLWLLFPCHRLASQNYSDSLAQQWSFSLLIMWLCNREREIFMSKCAKCI


uniprotID: O00429
geneSymbol: DNM1L
reactome: R-HSA-75153;
pdb: 3W6N;3W6O;3W6P;4BEJ;4H1U;4H1V;5WP9;
length: 736
go: ENSG00000087470;
snps: rs1064610 rs879255685 rs886037861 rs121908531 rs863223953 rs2389105
name:
Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-like protein) (DVLP) (Dynamin family member proline-rich carboxyl-terminal domain less) (Dymple) (Dynamin-like protein) (Dynamin-like protein 4) (Dynamin-like protein IV) (HdynIV) (Dynamin-related protein 1)

sequence:

opentargets:
brush border [GO:0005903]; cell junction [GO:0030054]; clathrin-coated pit [GO:0005905]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; microtubule [GO:0005874]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; peroxisome [GO:0005777]; postsynapse [GO:0098794]; presynaptic endocytic zone membrane [GO:0098835]; protein-containing complex [GO:0032991]; synaptic vesicle membrane [GO:0030672]; BH2 domain binding [GO:0051433]; clathrin binding [GO:0030276]; GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; Rab GTPase binding [GO:0017137]; ubiquitin protein ligase binding [GO:0031625]; apoptotic mitochondrial changes [GO:0008637]; cellular response to oxygen-glucose deprivation [GO:0090650]; cellular response to thapsigargin [GO:1904579]; dynamin family protein polymerization involved in mitochondrial fission [GO:0003374]; execution phase of apoptosis [GO:0097194]; heart contraction [GO:0060047]; intracellular distribution of mitochondria [GO:0048312]; membrane fusion [GO:0061025]; mitochondrial fission [GO:0000266]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mitochondrial membrane fission [GO:0090149]; mitochondrion morphogenesis [GO:0070584]; mitochondrion organization [GO:0007005]; necroptotic process [GO:0070266]; negative regulation of mitochondrial fusion [GO:0010637]; peroxisome fission [GO:0016559]; positive regulation of apoptotic process [GO:0043065]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of protein secretion [GO:0050714]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of synaptic vesicle endocytosis [GO:1900244]; positive regulation of synaptic vesicle exocytosis [GO:2000302]; protein complex oligomerization [GO:0051259]; protein homotetramerization [GO:0051289]; protein localization to mitochondrion [GO:0070585]; regulation of ATP metabolic process [GO:1903578]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of mitochondrion organization [GO:0010821]; regulation of peroxisome organization [GO:1900063]; regulation of protein oligomerization [GO:0032459]; release of cytochrome c from mitochondria [GO:0001836]; response to flavonoid [GO:1905395]; response to hypobaric hypoxia [GO:1990910]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle recycling via endosome [GO:0036466]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=HdynIV-WT, DLP1F; IsoId=O00429-1; Sequence=Displayed; Name=4; Synonyms=HdynIV-11, DLP1c; IsoId=O00429-2; Sequence=VSP_013688; Name=2; Synonyms=DLP1a; IsoId=O00429-3; Sequence=VSP_013686; Name=3; Synonyms=HdynIV-37, DLP1b; IsoId=O00429-4; Sequence=VSP_013685; Name=5; Synonyms=HdynIV-26; IsoId=O00429-5; Sequence=VSP_013687; Note=No experimental confirmation available.; Name=6; IsoId=O00429-6; Sequence=VSP_039097; Name=7; IsoId=O00429-7; Sequence=VSP_054544, VSP_054545; Note=No experimental confirmation available.; Name=8; IsoId=O00429-8; Sequence=VSP_039097, VSP_013688; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Golgi apparatus. Endomembrane system; Peripheral membrane protein. Mitochondrion outer membrane {ECO:0000269|PubMed:26122121, ECO:0000269|PubMed:27145208, ECO:0000269|PubMed:28969390}; Peripheral membrane protein. Peroxisome. Membrane, clathrin-coated pit {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}. Note=Mainly cytosolic. Translocated to the mitochondrial membrane through O-GlcNAcylation and interaction with FIS1. Recruited to the mitochondrial outer membrane by interaction with MIEF1. Colocalized with MARCH5 at mitochondrial membrane. Localizes to mitochondria at sites of division. Localizes to mitochondria following necrosis induction. Associated with peroxisomal membranes, partly recruited there by PEX11B. May also be associated with endoplasmic reticulum tubules and cytoplasmic vesicles and found to be perinuclear. In some cell types, localizes to the Golgi complex. Binds to phospholipid membranes.


uniprotID: O00115
geneSymbol: DNASE2
reactome: R-HSA-432720;
length: 360
go: ENSG00000105612;
snps: rs36075196 rs16978744 rs1061192
location: SUBCELLULAR LOCATION: Lysosome.
name:
Deoxyribonuclease-2-alpha (EC 3.1.22.1) (Acid DNase) (Deoxyribonuclease II alpha) (DNase II alpha) (Lysosomal DNase II) (R31240_2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosome [GO:0005764]; deoxyribonuclease II activity [GO:0004531]; DNA binding [GO:0003677]; apoptotic DNA fragmentation [GO:0006309]; DNA metabolic process [GO:0006259]; erythrocyte differentiation [GO:0030218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00115-1; Sequence=Displayed; Name=2; IsoId=O00115-2; Sequence=VSP_056921; Note=No experimental confirmation available.; 


uniprotID: Q8WZ79
geneSymbol: DNASE2B
length: 361
go: ENSG00000137976;
snps: rs3738573 rs3754274 rs3754274
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000305}.
name:
Deoxyribonuclease-2-beta (EC 3.1.22.1) (DNase II-like acid DNase) (DNase2-like acid DNase) (Deoxyribonuclease II beta) (DNase II beta) (Endonuclease DLAD)

sequence:

opentargets:
extracellular region [GO:0005576]; lysosome [GO:0005764]; deoxyribonuclease II activity [GO:0004531]; apoptotic DNA fragmentation [GO:0006309]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WZ79-1; Sequence=Displayed; Name=2; IsoId=Q8WZ79-2; Sequence=VSP_009812; 


uniprotID: P06340
geneSymbol: HLA-DOA
reactome: R-HSA-2132295;
pdb: 4I0P;
length: 250
go: ENSG00000204252;
snps: rs41542323 rs11575906
name:
HLA class II histocompatibility antigen, DO alpha chain (MHC DN-alpha) (MHC DZ alpha) (MHC class II antigen DOA)

sequence:

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; MHC class II protein complex binding [GO:0023026]; MHC class II receptor activity [GO:0032395]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; negative regulation of antigen processing and presentation of peptide antigen via MHC class II [GO:0002587]; regulation of T cell differentiation [GO:0045580]

location:
SUBCELLULAR LOCATION: Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=Complexes with HLA-DM molecule during intracellular transport and in endosomal/lysosomal compartments. Heterotetramerization is necessary to exit the ER.


uniprotID: Q6XZF7
geneSymbol: DNMBP
pdb: 1UG1;1UHC;4CC2;4CC3;4CC4;4CC7;4GLM;
name: Dynamin-binding protein (Scaffold protein Tuba)
length: 1577
go: ENSG00000107554;
snps: rs12267912 rs35924554 rs7919507 rs11190305
sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; Golgi stack [GO:0005795]; synapse [GO:0045202]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; aging [GO:0007568]; intracellular signal transduction [GO:0035556]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6XZF7-1; Sequence=Displayed; Name=2; IsoId=Q6XZF7-2; Sequence=VSP_012079; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus, Golgi stack {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Localized to synapses and Golgi stacks. {ECO:0000250}.


uniprotID: P26358
geneSymbol: DNMT1
reactome: R-HSA-212300;R-HSA-427413;R-HSA-4655427;R-HSA-5334118;
pdb: 3EPZ;3PTA;3SWR;4WXX;4YOC;4Z96;4Z97;5WVO;5YDR;
length: 1616
go: ENSG00000130816;
drug: DB00928;DB01262;DB01099;DB01035;
snps: rs16999593 rs2228612 rs199473691 rs199473690 rs397509392 rs397509393 rs397509391
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12145218}.
name:
DNA (cytosine-5)-methyltransferase 1 (Dnmt1) (EC 2.1.1.37) (CXXC-type zinc finger protein 9) (DNA methyltransferase HsaI) (DNA MTase HsaI) (M.HsaI) (MCMT)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; replication fork [GO:0005657]; DNA (cytosine-5-)-methyltransferase activity [GO:0003886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-methyltransferase activity [GO:0009008]; methyl-CpG binding [GO:0008327]; promoter-specific chromatin binding [GO:1990841]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cellular response to amino acid stimulus [GO:0071230]; chromatin organization [GO:0006325]; DNA methylation [GO:0006306]; DNA methylation involved in embryo development [GO:0043045]; DNA methylation on cytosine within a CG sequence [GO:0010424]; gene silencing [GO:0016458]; maintenance of DNA methylation [GO:0010216]; negative regulation of gene expression [GO:0010629]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of histone H3-K9 methylation [GO:0051573]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vascular associated smooth muscle cell apoptotic process [GO:1905460]; negative regulation of vascular smooth muscle cell differentiation involved in phenotypic switching [GO:1905931]; positive regulation of gene expression [GO:0010628]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of methylation-dependent chromatin silencing [GO:0090309]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; Ras protein signal transduction [GO:0007265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P26358-1; Sequence=Displayed; Name=2; Synonyms=Dnmt1b; IsoId=P26358-2; Sequence=VSP_005618; Name=3; IsoId=P26358-3; Sequence=VSP_005617; 


uniprotID: Q96HP0
geneSymbol: DOCK6
reactome: R-HSA-983231;
name: Dedicator of cytokinesis protein 6
length: 2047
go: ENSG00000130158;
snps: rs12978266 rs12609039 rs17001264 rs35881692 rs8108071 rs34243815
sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; guanyl-nucleotide exchange factor activity [GO:0005085]; blood coagulation [GO:0007596]; small GTPase mediated signal transduction [GO:0007264]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17196961}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:17196961}. Note=Mainly located near the cell surface.


uniprotID: O43598
geneSymbol: DNPH1
reactome: R-HSA-74259;
pdb: 4P5E;
name: 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 (EC 3.2.2.-) (c-Myc-responsive protein RCL)
length: 174
go: ENSG00000112667;
sequence:
MAAAMVPGRSESWERGEPGRPALYFCGSIRGGREDRTLYERIVSRLRRFGTVLTEHVAAAELGARGEEAAGGDRLIHEQDLEWLQQADVVVAEVTQPSLGVGYELGRAVAFNKRILCLFRPQSGRVLSAMIRGAADGSRFQVWDYEEGEVEALLDRYFEADPPGQVAASPDPTT

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; deoxyribonucleoside 5'-monophosphate N-glycosidase activity [GO:0070694]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; cell proliferation [GO:0008283]; deoxyribonucleoside monophosphate catabolic process [GO:0009159]; epithelial cell differentiation [GO:0030855]; nucleoside metabolic process [GO:0009116]; positive regulation of cell growth [GO:0030307]; purine nucleotide catabolic process [GO:0006195]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43598-1; Sequence=Displayed; Name=2; IsoId=O43598-2; Sequence=VSP_040509, VSP_040510; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03036, ECO:0000269|PubMed:18726892}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03036}.


uniprotID: Q76MJ5
geneSymbol: ERN2
length: 926
go: ENSG00000134398;
name:
Serine/threonine-protein kinase/endoribonuclease IRE2 (Endoplasmic reticulum-to-nucleus signaling 2) (Inositol-requiring protein 2) (hIRE2p) (Ire1-beta) (IRE1b) [Includes: Serine/threonine-protein kinase (EC 2.7.11.1); Endoribonuclease (EC 3.1.26.-)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; IRE1-TRAF2-ASK1 complex [GO:1990604]; ATP binding [GO:0005524]; endonuclease activity [GO:0004519]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; ribonuclease activity [GO:0004540]; activation of JUN kinase activity [GO:0007257]; apoptotic chromosome condensation [GO:0030263]; cell cycle arrest [GO:0007050]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; mRNA processing [GO:0006397]; negative regulation of transcription, DNA-templated [GO:0045892]; protein phosphorylation [GO:0006468]; response to endoplasmic reticulum stress [GO:0034976]; rRNA catabolic process [GO:0016075]

snps:
rs9932495 rs56117885 rs34683474 rs55772851 rs56191901 rs55687638 rs26764 rs56001432 rs56176960 rs56137182 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11175748}; Single-pass type I membrane protein {ECO:0000269|PubMed:11175748}.


uniprotID: Q9UPQ8
geneSymbol: DOLK
reactome: R-HSA-446199;R-HSA-4755583;
name: Dolichol kinase (EC 2.7.1.108) (Transmembrane protein 15)
length: 538
go: ENSG00000175283;
snps: rs137853109 rs17485436 rs137853110
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; dolichol kinase activity [GO:0004168]; dolichyl diphosphate biosynthetic process [GO:0006489]; dolichyl monophosphate biosynthetic process [GO:0043048]


uniprotID: Q5JWR5
geneSymbol: DOP1A
name: Protein dopey-1
length: 2465
go: ENSG00000083097;
snps: rs4706980 rs9444039
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; Golgi membrane [GO:0000139]; trans-Golgi network [GO:0005802]; Golgi to endosome transport [GO:0006895]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q03921}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q03921}.


uniprotID: Q9Y3R5
geneSymbol: DOP1B
name: Protein dopey-2
length: 2298
go: ENSG00000142197;
snps: rs7278340 rs4817788 rs3746866 rs3746867 rs3827183
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; trans-Golgi network [GO:0005802]; cognition [GO:0050890]; endoplasmic reticulum organization [GO:0007029]; Golgi to endosome transport [GO:0006895]; multicellular organism development [GO:0007275]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y3R5-1; Sequence=Displayed; Name=2; IsoId=Q9Y3R5-2; Sequence=VSP_027387; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q03921}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q03921}.


uniprotID: Q9P104
geneSymbol: DOK5
reactome: R-HSA-8853659;
pdb: 1J0W;
name: Docking protein 5 (Downstream of tyrosine kinase 5) (Insulin receptor substrate 6) (IRS-6) (IRS6)
length: 306
go: ENSG00000101134;
sequence:

opentargets:
cytosol [GO:0005829]; axon guidance [GO:0007411]; positive regulation of MAPK cascade [GO:0043410]; regulation of neurotrophin TRK receptor signaling pathway [GO:0051386]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P104-1; Sequence=Displayed; Name=2; IsoId=Q9P104-2; Sequence=VSP_003854; Note=No experimental confirmation available.; 


uniprotID: Q1HG44
geneSymbol: DUOXA2
name: Dual oxidase maturation factor 2 (Dual oxidase activator 2)
length: 320
go: ENSG00000140274;
snps: rs2576090
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; hydrogen peroxide metabolic process [GO:0042743]; protein transport [GO:0015031]; regulation of inflammatory response [GO:0050727]; regulation of thyroid hormone generation [GO:2000609]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q1HG44-1; Sequence=Displayed; Name=2; IsoId=Q1HG44-2; Sequence=VSP_046554, VSP_046555; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16651268}; Multi-pass membrane protein {ECO:0000269|PubMed:16651268}.


uniprotID: Q9UKG1
geneSymbol: APPL1
reactome: R-HSA-418889;
pdb: 2EJ8;2ELA;2ELB;2Q12;2Q13;2Z0N;2Z0O;5C5B;
length: 709
go: ENSG00000157500;
snps: rs796065047 rs4381906 rs11544593
name:
DCC-interacting protein 13-alpha (Dip13-alpha) (Adapter protein containing PH domain, PTB domain and leucine zipper motif 1)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; vesicle membrane [GO:0012506]; identical protein binding [GO:0042802]; protein kinase B binding [GO:0043422]; protein-containing complex binding [GO:0044877]; cell cycle [GO:0007049]; cell proliferation [GO:0008283]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; insulin receptor signaling pathway [GO:0008286]; regulation of glucose import [GO:0046324]; regulation of protein localization to plasma membrane [GO:1903076]; signal transduction [GO:0007165]; signaling [GO:0023052]

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:20133602}; Peripheral membrane protein {ECO:0000269|PubMed:15016378}. Nucleus {ECO:0000269|PubMed:15016378}. Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF. {ECO:0000269|PubMed:15016378}.


uniprotID: Q15828
geneSymbol: CST6
pdb: 4N6L;4N6M;4N6N;4N6O;6FK0;
name: Cystatin-M (Cystatin-6) (Cystatin-E)
length: 149
go: ENSG00000175315;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MARSNLPLALGLALVAFCLLALPRDARARPQERMVGELRDLSPDDPQVQKAAQAAVASYNMGSNSIYYFRDTHIIKAQSQLVAGIKYFLTMEMGSTDCRKTRVTGDHVDLTTCPLAAGAQQEKLRCDFEVLVVPWQNSSQLLKHNCVQM

opentargets:
cornified envelope [GO:0001533]; extracellular exosome [GO:0070062]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; anatomical structure morphogenesis [GO:0009653]; epidermis development [GO:0008544]


uniprotID: Q9UN19
geneSymbol: DAPP1
reactome: R-HSA-983695;
pdb: 1FAO;1FB8;
length: 280
go: ENSG00000070190;
name:
Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide (hDAPP1) (B lymphocyte adapter protein Bam32) (B-cell adapter molecule of 32 kDa)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; PDZ domain binding [GO:0030165]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phospholipid binding [GO:0005543]; protein dephosphorylation [GO:0006470]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=hBam1; IsoId=Q9UN19-1; Sequence=Displayed; Name=2; Synonyms=hBam2; IsoId=Q9UN19-2; Sequence=VSP_010699; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10770799}. Membrane {ECO:0000269|PubMed:10770799}; Peripheral membrane protein {ECO:0000269|PubMed:10770799}. Note=Membrane-associated after cell stimulation leading to its translocation.


uniprotID: Q8N688
geneSymbol: DEFB123
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 123 (Beta-defensin 23) (DEFB-23) (Defensin, beta 123)
sequence: MKLLLLTLTVLLLLSQLTPGGTQRCWNLYGKCRYRCSKKERVYVYCINNKMCCVKPKYQPKERWWPF
length: 67
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N688-1; Sequence=Displayed; Name=2; IsoId=Q8N688-2; Sequence=VSP_057460, VSP_057461; 


uniprotID: O43768
geneSymbol: ENSA
reactome: R-HSA-2465910;
name: Alpha-endosulfine (ARPP-19e)
length: 121
go: ENSG00000143420;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MSQKQEEENPAEETGEEKQDTQEKEGILPERAEEAKLKAKYPSLGQKPGGSDFLMKRLQKGQKYFDSGDYNMAKAKMKNKQLPSAGPDKNLVTGDHIPTPQDLPQRKSSLVTSKLAGGQVE

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; ion channel inhibitor activity [GO:0008200]; phosphatase inhibitor activity [GO:0019212]; potassium channel inhibitor activity [GO:0019870]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase inhibitor activity [GO:0004864]; protein phosphatase regulator activity [GO:0019888]; signaling receptor binding [GO:0005102]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic cell cycle [GO:0000278]; negative regulation of protein dephosphorylation [GO:0035308]; regulation of insulin secretion [GO:0050796]; response to glucose [GO:0009749]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Alpha; IsoId=O43768-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O43768-2; Sequence=VSP_001443; Name=3; IsoId=O43768-3; Sequence=VSP_037065; Name=4; IsoId=O43768-4; Sequence=VSP_037066, VSP_001443; Name=5; IsoId=O43768-5; Sequence=VSP_037063, VSP_037064; Name=6; IsoId=O43768-6; Sequence=VSP_037063, VSP_037064, VSP_001443; Name=7; IsoId=O43768-7; Sequence=VSP_037063, VSP_037064, VSP_037065; Name=8; IsoId=O43768-8; Sequence=VSP_037067; Name=9; IsoId=O43768-9; Sequence=VSP_037065, VSP_001443; Note=No experimental confirmation available.; 


uniprotID: Q9Y5L3
geneSymbol: ENTPD2
reactome: R-HSA-8850843;
length: 495
go: ENSG00000054179;
snps: rs34618694
name:
Ectonucleoside triphosphate diphosphohydrolase 2 (NTPDase 2) (EC 3.6.1.-) (CD39 antigen-like 1) (Ecto-ATP diphosphohydrolase 2) (Ecto-ATPDase 2) (Ecto-ATPase 2)

sequence:

opentargets:
basement membrane [GO:0005604]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphatase activity [GO:0017111]; G protein-coupled receptor signaling pathway [GO:0007186]; nucleobase-containing small molecule catabolic process [GO:0034656]; platelet activation [GO:0030168]; purine ribonucleoside diphosphate catabolic process [GO:0009181]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; Synonyms=alpha; IsoId=Q9Y5L3-1; Sequence=Displayed; Name=Short; Synonyms=beta; IsoId=Q9Y5L3-2; Sequence=VSP_003610; Note=Catalytically inactive.; Name=gamma; IsoId=Q9Y5L3-3; Sequence=VSP_003610, VSP_053548; Note=Catalytically inactive.; 

location:
SUBCELLULAR LOCATION: Isoform Long: Cell membrane; Multi-pass membrane protein.; SUBCELLULAR LOCATION: Isoform Short: Endoplasmic reticulum membrane; Multi-pass membrane protein.; SUBCELLULAR LOCATION: Isoform gamma: Endoplasmic reticulum membrane; Multi-pass membrane protein.


uniprotID: O75356
geneSymbol: ENTPD5
reactome: R-HSA-8850843;
length: 428
go: ENSG00000187097;
snps: rs17094434
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}. Secreted {ECO:0000269|PubMed:10400613}.
name:
Ectonucleoside triphosphate diphosphohydrolase 5 (NTPDase 5) (EC 3.6.1.6) (CD39 antigen-like 4) (ER-UDPase) (Guanosine-diphosphatase ENTPD5) (GDPase ENTPD5) (EC 3.6.1.42) (Nucleoside diphosphatase) (Uridine-diphosphatase ENTPD5) (UDPase ENTPD5)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; guanosine-diphosphatase activity [GO:0004382]; nucleoside-diphosphatase activity [GO:0017110]; uridine-diphosphatase activity [GO:0045134]; 'de novo' posttranslational protein folding [GO:0051084]; ATP metabolic process [GO:0046034]; cell proliferation [GO:0008283]; nucleobase-containing small molecule catabolic process [GO:0034656]; positive regulation of glycolytic process [GO:0045821]; protein N-linked glycosylation [GO:0006487]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]


uniprotID: Q9BPX1
geneSymbol: HSD17B14
reactome: R-HSA-193144;
pdb: 1YDE;5EN4;5HS6;5ICM;5ICS;5JS6;5JSF;5L7T;5L7W;5L7Y;5O42;5O43;5O6O;5O6X;5O6Z;5O72;5O7C;
length: 270
go: ENSG00000087076;
snps: rs8110220 rs35299026
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17067289}.
name:
17-beta-hydroxysteroid dehydrogenase 14 (17-beta-HSD 14) (EC 1.1.1.-) (17-beta-hydroxysteroid dehydrogenase DHRS10) (Dehydrogenase/reductase SDR family member 10) (Retinal short-chain dehydrogenase/reductase retSDR3) (Short chain dehydrogenase/reductase family 47C member 1)

sequence:

opentargets:
cytosol [GO:0005829]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; identical protein binding [GO:0042802]; testosterone 17-beta-dehydrogenase (NADP+) activity [GO:0047045]; estrogen biosynthetic process [GO:0006703]; steroid catabolic process [GO:0006706]


uniprotID: P14061
geneSymbol: HSD17B1
reactome: R-HSA-193144;R-HSA-2453902;
length: 328
go: ENSG00000108786;
drug: DB03461;DB01536;DB01561;DB02901;DB02323;DB02187;DB00157;DB01708;
snps: rs147402365 rs605059
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1A27;1BHS;1DHT;1EQU;1FDS;1FDT;1FDU;1FDV;1FDW;1I5R;1IOL;1JTV;1QYV;1QYW;1QYX;3DEY;3DHE;3HB4;3HB5;3KLM;3KLP;3KM0;6DTP;

name:
Estradiol 17-beta-dehydrogenase 1 (EC 1.1.1.62) (17-beta-hydroxysteroid dehydrogenase type 1) (17-beta-HSD 1) (20 alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (E2DH) (Placental 17-beta-hydroxysteroid dehydrogenase) (Short chain dehydrogenase/reductase family 28C member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; catalytic activity [GO:0003824]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; estradiol binding [GO:1903924]; NADP+ binding [GO:0070401]; steroid binding [GO:0005496]; estrogen biosynthetic process [GO:0006703]; estrogen metabolic process [GO:0008210]; steroid biosynthetic process [GO:0006694]


uniprotID: Q53GQ0
geneSymbol: HSD17B12
reactome: R-HSA-193048;R-HSA-75876;
length: 312
go: ENSG00000149084;
snps: rs11555762
name:
Very-long-chain 3-oxoacyl-CoA reductase (EC 1.1.1.330) (17-beta-hydroxysteroid dehydrogenase 12) (17-beta-HSD 12) (3-ketoacyl-CoA reductase) (KAR) (Estradiol 17-beta-dehydrogenase 12) (EC 1.1.1.62) (Short chain dehydrogenase/reductase family 12C member 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular matrix [GO:0031012]; integral component of membrane [GO:0016021]; 3-oxo-arachidoyl-CoA reductase activity [GO:0102339]; 3-oxo-behenoyl-CoA reductase activity [GO:0102340]; 3-oxo-cerotoyl-CoA reductase activity [GO:0102342]; 3-oxo-lignoceroyl-CoA reductase activity [GO:0102341]; collagen binding [GO:0005518]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; fibronectin binding [GO:0001968]; heparin binding [GO:0008201]; long-chain-3-hydroxyacyl-CoA dehydrogenase activity [GO:0016509]; estrogen biosynthetic process [GO:0006703]; extracellular matrix organization [GO:0030198]; fatty acid biosynthetic process [GO:0006633]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53GQ0-1; Sequence=Displayed; Name=2; IsoId=Q53GQ0-2; Sequence=VSP_056380, VSP_056381; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12482854}; Multi-pass membrane protein {ECO:0000269|PubMed:12482854}.


uniprotID: Q9UBM7
geneSymbol: DHCR7
reactome: R-HSA-2426168;R-HSA-6807047;R-HSA-6807062;
length: 475
go: ENSG00000172893;
drug: DB00157;
name:
7-dehydrocholesterol reductase (7-DHC reductase) (EC 1.3.1.21) (Putative sterol reductase SR-2) (Sterol Delta(7)-reductase)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; nuclear outer membrane [GO:0005640]; 7-dehydrocholesterol reductase activity [GO:0047598]; NADP binding [GO:0050661]; sterol delta7 reductase activity [GO:0009918]; blood vessel development [GO:0001568]; brassinosteroid biosynthetic process [GO:0016132]; cell differentiation [GO:0030154]; cholesterol biosynthetic process [GO:0006695]; cholesterol biosynthetic process via desmosterol [GO:0033489]; cholesterol biosynthetic process via lathosterol [GO:0033490]; lung development [GO:0030324]; multicellular organism growth [GO:0035264]; post-embryonic development [GO:0009791]; regulation of cell proliferation [GO:0042127]; regulation of cholesterol biosynthetic process [GO:0045540]; sterol biosynthetic process [GO:0016126]

snps:
rs1127869 rs104886035 rs104886038 rs80338853 rs104886041 rs104886040 rs121912195 rs28938174 rs777425801 rs143312232 rs753960624 rs80338855 rs80338856 rs80338857 rs121909764 rs886041354 rs104894212 rs398123607 rs121909765 rs1173707321 rs80338859 rs121909768 rs80338860 rs371302153 rs373306653 rs779709646 rs773134475 rs61757582 rs1046560765 rs80338862 rs760242 rs535561852 rs751604696 rs80338864 rs542266962 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9878250}; Multi-pass membrane protein {ECO:0000269|PubMed:9878250}.


uniprotID: P49448
geneSymbol: GLUD2
reactome: R-HSA-2151201;R-HSA-70614;
name: Glutamate dehydrogenase 2, mitochondrial (GDH 2) (EC 1.4.1.3)
length: 558
go: ENSG00000182890;
drug: DB00142;DB00157;
snps: rs9697983
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:22709669}.
sequence:

opentargets:
mitochondrion [GO:0005739]; ADP binding [GO:0043531]; glutamate dehydrogenase (NAD+) activity [GO:0004352]; glutamate dehydrogenase [NAD(P)+] activity [GO:0004353]; GTP binding [GO:0005525]; leucine binding [GO:0070728]; glutamate biosynthetic process [GO:0006537]; glutamate catabolic process [GO:0006538]; glutamate metabolic process [GO:0006536]; oxidation-reduction process [GO:0055114]


uniprotID: Q6UX07
geneSymbol: DHRS13
length: 377
go: ENSG00000167536;
opentargets: extracellular region [GO:0005576]; membrane [GO:0016020]; oxidoreductase activity [GO:0016491]
snps: rs2277666 rs4795472
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Dehydrogenase/reductase SDR family member 13 (EC 1.1.-.-) (Short chain dehydrogenase/reductase family 7C member 5)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UX07-1; Sequence=Displayed; Name=2; IsoId=Q6UX07-2; Sequence=VSP_029640; Name=3; IsoId=Q6UX07-3; Sequence=VSP_057529; 


uniprotID: O14521
geneSymbol: SDHD
reactome: R-HSA-611105;R-HSA-71403;
length: 159
go: ENSG00000204370;
drug: DB00756;DB00139;DB08689;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS) (CII-4) (QPs3) (Succinate dehydrogenase complex subunit D) (Succinate-ubiquinone oxidoreductase cytochrome b small subunit) (Succinate-ubiquinone reductase membrane anchor subunit)

sequence:
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL

opentargets:
integral component of membrane [GO:0016021]; mitochondrial envelope [GO:0005740]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) [GO:0005749]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; succinate dehydrogenase activity [GO:0000104]; ubiquinone binding [GO:0048039]; mitochondrial electron transport, succinate to ubiquinone [GO:0006121]; tricarboxylic acid cycle [GO:0006099]

snps:
rs34677591 rs11214077 rs202198133 rs80338844 rs786205436 rs80338845 rs104894302 rs104894304 rs80338847 rs121908984 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O14521-1; Sequence=Displayed; Name=2; IsoId=O14521-2; Sequence=VSP_054744; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=3; IsoId=O14521-3; Sequence=VSP_054745; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=O14521-4; Sequence=VSP_054746, VSP_054747; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q8IX18
geneSymbol: DHX40
name: Probable ATP-dependent RNA helicase DHX40 (EC 3.6.4.13) (DEAH box protein 40) (Protein PAD)
length: 779
go: ENSG00000108406;
sequence:

opentargets:
ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IX18-1; Sequence=Displayed; Name=2; IsoId=Q8IX18-2; Sequence=VSP_020932, VSP_020933; Note=No experimental confirmation available.; Name=3; IsoId=Q8IX18-3; Sequence=VSP_020934, VSP_020935; Note=No experimental confirmation available.; Name=4; IsoId=Q8IX18-4; Sequence=VSP_046973; Note=Gene prediction based on EST data.; 


uniprotID: Q8NDZ4
geneSymbol: C3orf58
length: 430
go: ENSG00000181744;
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPI-coated vesicle. Golgi apparatus. Secreted.
name:
Deleted in autism protein 1 (Golgi Protein of 49 kDa) (GoPro49) (Hypoxia and AKT-induced stem cell factor) (HASF)

sequence:

opentargets:
COPI vesicle coat [GO:0030126]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; cardiac muscle cell proliferation [GO:0060038]; negative regulation of smooth muscle cell apoptotic process [GO:0034392]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDZ4-1; Sequence=Displayed; Name=2; IsoId=Q8NDZ4-2; Sequence=VSP_042939, VSP_042940; Note=No experimental confirmation available.; 


uniprotID: Q7L2E3
geneSymbol: DHX30
pdb: 2DB2;
name: ATP-dependent RNA helicase DHX30 (EC 3.6.4.13) (DEAH box protein 30)
length: 1194
go: ENSG00000132153;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ribonucleoprotein granule [GO:0035770]; 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]; chromatin binding [GO:0003682]; double-stranded RNA binding [GO:0003725]; G-quadruplex RNA binding [GO:0002151]; RNA binding [GO:0003723]; central nervous system development [GO:0007417]; mitochondrial large ribosomal subunit assembly [GO:1902775]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q7L2E3-1; Sequence=Displayed; Name=2; IsoId=Q7L2E3-2; Sequence=VSP_022118; Name=3; IsoId=Q7L2E3-3; Sequence=VSP_036891, VSP_036892; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29100085}. Mitochondrion {ECO:0000269|PubMed:16825194, ECO:0000269|PubMed:29100085}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:16825194, ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:25683715}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids (PubMed:16825194, PubMed:25683715). Relocalizes to stress granules upon heat stress (PubMed:29100085). {ECO:0000269|PubMed:16825194, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:29100085}.


uniprotID: Q9NSV4
geneSymbol: DIAPH3
reactome: R-HSA-5663220;
pdb: 5UWP;
name: Protein diaphanous homolog 3 (Diaphanous-related formin-3) (DRF3) (MDia2)
length: 1193
go: ENSG00000139734;
snps: rs36084898 rs35579086 rs7491389
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; Rho GTPase binding [GO:0017048]; actin cytoskeleton organization [GO:0030036]; actin filament polymerization [GO:0030041]; cytoskeleton organization [GO:0007010]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=3; IsoId=Q9NSV4-3; Sequence=Displayed; Name=1; IsoId=Q9NSV4-1; Sequence=VSP_015958, VSP_027777, VSP_027778; Name=2; IsoId=Q9NSV4-2; Sequence=VSP_015958, VSP_001574, VSP_001575; Name=4; IsoId=Q9NSV4-4; Sequence=VSP_027774; Name=5; IsoId=Q9NSV4-5; Sequence=VSP_027774, VSP_027776; Name=6; IsoId=Q9NSV4-6; Sequence=VSP_027774, VSP_027775; Name=7; IsoId=Q9NSV4-7; Sequence=VSP_027777, VSP_027778; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18755006, ECO:0000269|PubMed:19457867}. Nucleus {ECO:0000250|UniProtKB:Q9Z207}. Note=During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis (PubMed:18755006, PubMed:19457867). Shuttles between the cytoplasm and the nucleus (By similarity). {ECO:0000250|UniProtKB:Q9Z207, ECO:0000269|PubMed:18755006, ECO:0000269|PubMed:19457867}.


uniprotID: Q14689
geneSymbol: DIP2A
name: Disco-interacting protein 2 homolog A (DIP2 homolog A)
length: 1571
go: ENSG00000160305;
snps: rs7283507 rs16979312
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; nucleus [GO:0005634]; catalytic activity [GO:0003824]; multicellular organism development [GO:0007275]; negative regulation of gene expression [GO:0010629]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q14689-1; Sequence=Displayed; Name=2; IsoId=Q14689-2; Sequence=VSP_007749; Name=3; IsoId=Q14689-3; Sequence=VSP_007748, VSP_007749; Note=No experimental confirmation available.; Name=4; IsoId=Q14689-4; Sequence=VSP_007750, VSP_007751; Note=No experimental confirmation available.; Name=5; IsoId=Q14689-5; Sequence=VSP_045408, VSP_045409, VSP_045410; Note=No experimental confirmation available.; Name=6; IsoId=Q14689-6; Sequence=VSP_047246; 


uniprotID: Q96SL1
geneSymbol: DIRC2
name: Disrupted in renal carcinoma protein 2 (Disrupted in renal cancer protein 2)
length: 478
go: ENSG00000138463;
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SL1-1; Sequence=Displayed; Name=2; IsoId=Q96SL1-2; Sequence=VSP_022302, VSP_022303; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:21692750}; Multi-pass membrane protein {ECO:0000269|PubMed:21692750}.


uniprotID: Q9UNQ2
geneSymbol: DIMT1
reactome: R-HSA-6790901;
pdb: 1ZQ9;
length: 313
go: ENSG00000086189;
name:
Probable dimethyladenosine transferase (EC 2.1.1.183) (DIM1 dimethyladenosine transferase 1 homolog) (DIM1 dimethyladenosine transferase 1-like) (Probable 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase) (Probable 18S rRNA dimethylase) (Probable S-adenosylmethionine-6-N',N'-adenosyl(rRNA) dimethyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity [GO:0052909]; RNA binding [GO:0003723]; rRNA (adenine-N6,N6-)-dimethyltransferase activity [GO:0000179]; positive regulation of rRNA processing [GO:2000234]; rRNA methylation [GO:0031167]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:25851604}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:25851604}.


uniprotID: Q96F81
geneSymbol: DISP1
name: Protein dispatched homolog 1
length: 1524
go: ENSG00000154309;
snps: rs2609383
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; peptide transmembrane transporter activity [GO:1904680]; determination of left/right symmetry [GO:0007368]; diaphragm development [GO:0060539]; dorsal/ventral pattern formation [GO:0009953]; embryonic pattern specification [GO:0009880]; patched ligand maturation [GO:0007225]; peptide transport [GO:0015833]; protein homotrimerization [GO:0070207]; regulation of protein secretion [GO:0050708]


uniprotID: O95936
geneSymbol: EOMES
name: Eomesodermin homolog (T-box brain protein 2) (T-brain-2) (TBR-2)
length: 686
go: ENSG00000163508;
snps: rs1874198
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; adaptive immune response [GO:0002250]; brain development [GO:0007420]; cardioblast differentiation [GO:0010002]; CD8-positive, alpha-beta T cell differentiation involved in immune response [GO:0002302]; cell differentiation involved in embryonic placenta development [GO:0060706]; cerebral cortex neuron differentiation [GO:0021895]; cerebral cortex regionalization [GO:0021796]; endoderm formation [GO:0001706]; endodermal cell fate specification [GO:0001714]; interferon-gamma production [GO:0032609]; mesoderm formation [GO:0001707]; mesodermal to mesenchymal transition involved in gastrulation [GO:0060809]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription by RNA polymerase II [GO:0000122]; olfactory bulb development [GO:0021772]; positive regulation of cell differentiation [GO:0045597]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of neuron differentiation [GO:0045664]; skeletal muscle cell differentiation [GO:0035914]; stem cell population maintenance [GO:0019827]; trophectodermal cell differentiation [GO:0001829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95936-1; Sequence=Displayed; Name=2; IsoId=O95936-2; Sequence=VSP_042161, VSP_042162; Note=No experimental confirmation available. Dubious isoform produced through aberrant splice sites.; Name=3; IsoId=O95936-3; Sequence=VSP_054801, VSP_042162; Note=No experimental confirmation available.; Name=4; IsoId=O95936-4; Sequence=VSP_042162; Note=No experimental confirmation available.; 


uniprotID: O75165
geneSymbol: DNAJC13
reactome: R-HSA-6798695;
name: DnaJ homolog subfamily C member 13 (Required for receptor-mediated endocytosis 8) (RME-8)
length: 2243
go: ENSG00000138246;
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; endosome organization [GO:0007032]; neutrophil degranulation [GO:0043312]; osteoblast differentiation [GO:0001649]; protein transport [GO:0015031]; receptor-mediated endocytosis [GO:0006898]; regulation of early endosome to late endosome transport [GO:2000641]; regulation of early endosome to recycling endosome transport [GO:1902954]

snps:
rs749000301 rs199541720 rs146930051 rs387907571 rs141952333 rs752189478 rs202127368 rs751747947 rs766013346 rs61748101 rs3762672 rs4405917 rs55825559 rs139620588 rs142160751 rs145242123 rs10935014 rs138693725 rs770715465 rs140537885 

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:18256511}. Early endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000269|PubMed:18256511}. Endosome membrane {ECO:0000269|PubMed:24643499}.


uniprotID: Q6Y2X3
geneSymbol: DNAJC14
length: 702
go: ENSG00000135392;
name:
DnaJ homolog subfamily C member 14 (DnaJ protein homolog 3) (Dopamine receptor-interacting protein of 78 kDa) (DRIP78) (Human DnaJ protein 3) (hDj-3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; dopamine receptor binding [GO:0050780]; protein transport [GO:0015031]


uniprotID: Q96LL9
geneSymbol: DNAJC30
pdb: 2YUA;
name: DnaJ homolog subfamily C member 30 (Williams-Beuren syndrome chromosomal region 18 protein)
length: 226
go: ENSG00000176410;
snps: rs1128349 rs13244259
sequence:


uniprotID: Q9Y5T4
geneSymbol: DNAJC15
length: 150
go: ENSG00000120675;
snps: rs12015
name:
DnaJ homolog subfamily C member 15 (Cell growth-inhibiting gene 22 protein) (Methylation-controlled J protein) (MCJ)

sequence:
MAARGVIAPVGESLRYAEYLQPSAKRPDADVDQQRLVRSLIAVGLGVAALAFAGRYAFRIWKPLEQVITETAKKISTPSFSSYYKGGFEQKMSRREAGLILGVSPSAGKAKIRTAHRRVMILNHPDKGGSPYVAAKINEAKDLLETTTKH

opentargets:
integral component of membrane [GO:0016021]; PAM complex, Tim23 associated import motor [GO:0001405]; ATPase activator activity [GO:0001671]; cellular response to starvation [GO:0009267]; negative regulation of mitochondrial electron transport, NADH to ubiquinone [GO:1902957]; negative regulation of protein complex assembly [GO:0031333]; protein import into mitochondrial matrix [GO:0030150]; regulation of lipid metabolic process [GO:0019216]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23263864, ECO:0000269|PubMed:23530063}; Single-pass membrane protein {ECO:0000269|PubMed:23263864, ECO:0000269|PubMed:23530063}.


uniprotID: Q9NXW2
geneSymbol: DNAJB12
pdb: 2CTP;
name: DnaJ homolog subfamily B member 12
length: 375
go: ENSG00000148719;
snps: rs3750784
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; Hsp70 protein binding [GO:0030544]; cellular protein-containing complex assembly [GO:0034622]; cellular response to misfolded protein [GO:0071218]; chaperone cofactor-dependent protein refolding [GO:0051085]; ERAD pathway [GO:0036503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXW2-1; Sequence=Displayed; Name=2; IsoId=Q9NXW2-2; Sequence=VSP_039040; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21148293, ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}; Single-pass membrane protein {ECO:0000255}. Nucleus membrane {ECO:0000269|PubMed:24732912}; Single-pass membrane protein {ECO:0000305}. Note=Localizes to the endoplasmic reticulum membrane (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661). When overexpressed, forms membranous structures in the nucleus (PubMed:24732912). {ECO:0000269|PubMed:21148293, ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}.


uniprotID: P59910
geneSymbol: DNAJB13
length: 316
go: ENSG00000187726;
snps: rs754776389
name:
DnaJ homolog subfamily B member 13 (Testis and spermatogenesis cell-related protein 6) (Testis spermatocyte apoptosis-related gene 6 protein) (Testis spermatogenesis apoptosis-related gene 3 protein) (Testis spermatogenesis apoptosis-related gene 6 protein)

sequence:

opentargets:
axoneme [GO:0005930]; cytosol [GO:0005829]; motile cilium [GO:0031514]; sperm connecting piece [GO:0097224]; sperm flagellum [GO:0036126]; chaperone binding [GO:0051087]; unfolded protein binding [GO:0051082]; axonemal central apparatus assembly [GO:1904158]; chaperone cofactor-dependent protein refolding [GO:0051085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59910-1; Sequence=Displayed; Name=2; Synonyms=TSARG5; IsoId=P59910-2; Sequence=VSP_008519, VSP_008520; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:27486783}. Note=Localizes both to epithelial motile cilium and the sperm flagellum (PubMed:27486783). In spermatids, rapidly enriched in the coupling apparatus with the elongation of the spermatid. Tightly attached to the implantation fossa during the maturation of the spermatid. In mature spermatzoa evenly distributed along the flagellum (By similarity). {ECO:0000250|UniProtKB:Q80Y75, ECO:0000269|PubMed:27486783}.


uniprotID: Q14507
geneSymbol: EDDM3A
name: Epididymal secretory protein E3-alpha (Human epididymis-specific protein 3-alpha) (HE3-alpha)
length: 147
go: ENSG00000181562;
opentargets: extracellular space [GO:0005615]; sperm displacement [GO:0007321]
snps: rs34552133
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MTSSLKIWGILLALLCILCRLCVYSNNIYWREFIKLHYLSPSREFKEYKCDVLMREKEALKGKSFHMFIYSLWFKIQRACINEKGSDRYRNAYVWAPGALKVLECHWEKYNNRYTESRSFSYIEFHCGVDGYVDNIEDLRIIEPISN


uniprotID: Q96L91
geneSymbol: EP400
reactome: R-HSA-2559584;R-HSA-2559586;R-HSA-3214847;
length: 3159
go: ENSG00000183495;
snps: rs13377636
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00549}.
name:
E1A-binding protein p400 (EC 3.6.4.-) (CAG repeat protein 32) (Domino homolog) (hDomino) (Trinucleotide repeat-containing gene 12 protein) (p400 kDa SWI2/SNF2-related protein)

sequence:

opentargets:
NuA4 histone acetyltransferase complex [GO:0035267]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; Swr1 complex [GO:0000812]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; protein antigen binding [GO:1990405]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96L91-1; Sequence=Displayed; Name=2; IsoId=Q96L91-2; Sequence=VSP_011992; Name=3; IsoId=Q96L91-3; Sequence=VSP_011992, VSP_011993, VSP_011994; Note=No experimental confirmation available.; Name=4; IsoId=Q96L91-4; Sequence=VSP_011992, VSP_011995; Note=No experimental confirmation available.; Name=5; IsoId=Q96L91-5; Sequence=VSP_011992, VSP_011993; Note=No experimental confirmation available.; 


uniprotID: Q99814
geneSymbol: EPAS1
reactome: R-HSA-1234158;R-HSA-1234162;R-HSA-1234176;R-HSA-452723;R-HSA-8849473;R-HSA-8951664;
pdb: 1P97;2A24;3F1N;3F1O;3F1P;3H7W;3H82;4GHI;4GS9;4PKY;4XT2;5KIZ;5TBM;5UFP;
length: 870
go: ENSG00000116016;
snps: rs137853037 rs137853036 rs137853036 rs59901247 rs61518065
name:
Endothelial PAS domain-containing protein 1 (EPAS-1) (Basic-helix-loop-helix-PAS protein MOP2) (Class E basic helix-loop-helix protein 73) (bHLHe73) (HIF-1-alpha-like factor) (HLF) (Hypoxia-inducible factor 2-alpha) (HIF-2-alpha) (HIF2-alpha) (Member of PAS protein 2) (PAS domain-containing protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; blood vessel remodeling [GO:0001974]; cell maturation [GO:0048469]; cellular response to hypoxia [GO:0071456]; embryonic placenta development [GO:0001892]; erythrocyte differentiation [GO:0030218]; iron ion homeostasis [GO:0055072]; lung development [GO:0030324]; mitochondrion organization [GO:0007005]; myoblast fate commitment [GO:0048625]; norepinephrine metabolic process [GO:0042415]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; regulation of heart rate [GO:0002027]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0043619]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; surfactant homeostasis [GO:0043129]; transcription by RNA polymerase II [GO:0006366]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P97481, ECO:0000255|PROSITE-ProRule:PRU00981}. Nucleus speckle {ECO:0000250|UniProtKB:P97481}. Note=Colocalizes with HIF3A in the nucleus and speckles. {ECO:0000250|UniProtKB:P97481}.


uniprotID: Q9H2F5
geneSymbol: EPC1
reactome: R-HSA-3214847;R-HSA-8953750;
name: Enhancer of polycomb homolog 1
length: 836
go: ENSG00000120616;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10976108}.
sequence:

opentargets:
NuA4 histone acetyltransferase complex [GO:0035267]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Piccolo NuA4 histone acetyltransferase complex [GO:0032777]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription, DNA-templated [GO:0006351]; vascular smooth muscle cell differentiation [GO:0035886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H2F5-1; Sequence=Displayed; Name=2; IsoId=Q9H2F5-2; Sequence=VSP_012877; Name=3; IsoId=Q9H2F5-3; Sequence=VSP_012875, VSP_012877; 


uniprotID: Q9UK85
geneSymbol: DKKL1
name: Dickkopf-like protein 1 (Cancer/testis antigen 34) (CT34) (Protein soggy-1) (SGY-1)
length: 242
go: ENSG00000104901;
snps: rs2303757 rs919364 rs35693137 rs2303759 rs1054770 rs2288481
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; extracellular space [GO:0005615]; co-receptor binding [GO:0039706]; receptor antagonist activity [GO:0048019]; anatomical structure morphogenesis [GO:0009653]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of testosterone biosynthetic process [GO:2000225]; penetration of zona pellucida [GO:0007341]; positive regulation of apoptotic process [GO:0043065]; positive regulation of fat cell differentiation [GO:0045600]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9QZL9}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9QZL9}. Note=Localized specifically to the crescent shaped acrosome at the apex of the sperm head. {ECO:0000250|UniProtKB:Q9QZL9}.


uniprotID: Q12959
geneSymbol: DLG1
reactome: R-HSA-399719;R-HSA-447038;R-HSA-451308;R-HSA-8849932;
pdb: 1PDR;2M3M;2OQS;2X7Z;3LRA;3RL7;3RL8;3W9Y;4AMH;4G69;
name: Disks large homolog 1 (Synapse-associated protein 97) (SAP-97) (SAP97) (hDlg)
length: 904
go: ENSG00000075711;
snps: rs1802668 rs1134986 rs34492126
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basement membrane [GO:0005604]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell projection membrane [GO:0031253]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; immunological synapse [GO:0001772]; intercalated disc [GO:0014704]; lateral loop [GO:0043219]; lateral plasma membrane [GO:0016328]; membrane raft [GO:0045121]; microtubule [GO:0005874]; MPP7-DLG1-LIN7 complex [GO:0097025]; myelin sheath abaxonal region [GO:0035748]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; node of Ranvier [GO:0033268]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; sarcolemma [GO:0042383]; cadherin binding [GO:0045296]; cytoskeletal protein binding [GO:0008092]; guanylate kinase activity [GO:0004385]; ion channel binding [GO:0044325]; ionotropic glutamate receptor binding [GO:0035255]; L27 domain binding [GO:0097016]; ligand-gated ion channel activity [GO:0015276]; mitogen-activated protein kinase kinase binding [GO:0031434]; phosphatase binding [GO:0019902]; phosphoprotein phosphatase activity [GO:0004721]; potassium channel regulator activity [GO:0015459]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein-containing complex scaffold activity [GO:0032947]; structural constituent of postsynaptic density [GO:0098919]; actin filament organization [GO:0007015]; activation of protein kinase activity [GO:0032147]; amyloid precursor protein metabolic process [GO:0042982]; astral microtubule organization [GO:0030953]; bicellular tight junction assembly [GO:0070830]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell-cell adhesion [GO:0098609]; cellular protein-containing complex localization [GO:0034629]; chemical synaptic transmission [GO:0007268]; cortical actin cytoskeleton organization [GO:0030866]; cortical microtubule organization [GO:0043622]; embryonic skeletal system morphogenesis [GO:0048704]; endothelial cell proliferation [GO:0001935]; establishment of centrosome localization [GO:0051660]; establishment or maintenance of cell polarity [GO:0007163]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; hard palate development [GO:0060022]; immunological synapse formation [GO:0001771]; lens development in camera-type eye [GO:0002088]; membrane raft organization [GO:0031579]; mitotic cell cycle checkpoint [GO:0007093]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of p38MAPK cascade [GO:1903753]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0099645]; peristalsis [GO:0030432]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell proliferation [GO:0008284]; positive regulation of potassium ion transport [GO:0043268]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein localization to plasma membrane [GO:0072659]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]; regulation of cell shape [GO:0008360]; regulation of membrane potential [GO:0042391]; regulation of myelination [GO:0031641]; regulation of potassium ion export across plasma membrane [GO:1903764]; regulation of potassium ion import [GO:1903286]; regulation of sodium ion transmembrane transport [GO:1902305]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]; regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1903760]; reproductive structure development [GO:0048608]; smooth muscle tissue development [GO:0048745]; T cell activation [GO:0042110]; T cell cytokine production [GO:0002369]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q12959-1; Sequence=Displayed; Name=2; IsoId=Q12959-2; Sequence=VSP_003150; Name=3; IsoId=Q12959-3; Sequence=VSP_012862; Name=4; IsoId=Q12959-4; Sequence=VSP_012862, VSP_003150; Name=5; IsoId=Q12959-5; Sequence=VSP_012862, VSP_012863; Name=6; IsoId=Q12959-6; Sequence=VSP_012864; Name=7; IsoId=Q12959-7; Sequence=VSP_012865; Name=8; IsoId=Q12959-8; Sequence=VSP_045896, VSP_045897; Note=No experimental confirmation available.; Name=9; IsoId=Q12959-9; Sequence=VSP_045896, VSP_045897, VSP_012865, VSP_045898; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10859302, ECO:0000269|PubMed:11723125, ECO:0000269|PubMed:8922391}; Peripheral membrane protein {ECO:0000269|PubMed:8922391}. Basolateral cell membrane {ECO:0000269|PubMed:12807908}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q62696}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q62696}. Cell junction, synapse {ECO:0000250|UniProtKB:Q62696}. Cell membrane, sarcolemma {ECO:0000269|PubMed:12445884}. Apical cell membrane {ECO:0000269|PubMed:12445884}. Cell junction {ECO:0000269|PubMed:10859302, ECO:0000269|PubMed:11723125, ECO:0000269|PubMed:7937897}. Cytoplasm {ECO:0000269|PubMed:10859302}. Note=Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells (PubMed:12807908). May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity). {ECO:0000250|UniProtKB:Q62696, ECO:0000269|PubMed:10859302, ECO:0000269|PubMed:12807908, ECO:0000269|PubMed:8922391, ECO:0000269|PubMed:9192623}.


uniprotID: O14490
geneSymbol: DLGAP1
reactome: R-HSA-6794361;
pdb: 5YPO;
length: 977
go: ENSG00000170579;
snps: rs35822832
name:
Disks large-associated protein 1 (DAP-1) (Guanylate kinase-associated protein) (hGKAP) (PSD-95/SAP90-binding protein 1) (SAP90/PSD-95-associated protein 1) (SAPAP1)

sequence:

opentargets:
cell junction [GO:0030054]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; protein-containing complex binding [GO:0044877]; chemical synaptic transmission [GO:0007268]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=DAP1-alpha; IsoId=O14490-1; Sequence=Displayed; Name=2; Synonyms=DAP1-beta; IsoId=O14490-2; Sequence=VSP_006003, VSP_006004; Name=3; IsoId=O14490-3; Sequence=VSP_006003, VSP_006004, VSP_006005, VSP_006006; Name=4; IsoId=O14490-4; Sequence=VSP_043222, VSP_043223; Note=No experimental confirmation available.; Name=5; IsoId=O14490-5; Sequence=VSP_043718, VSP_043721, VSP_043722; Note=No experimental confirmation available.; Name=6; IsoId=O14490-6; Sequence=VSP_043719, VSP_043720, VSP_043721, VSP_043723; Note=No experimental confirmation available.; Name=7; IsoId=O14490-7; Sequence=VSP_006005, VSP_006006; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}.


uniprotID: Q15700
geneSymbol: DLG2
reactome: R-HSA-6794361;
pdb: 2BYG;2HE2;
length: 870
go: ENSG00000150672;
name:
Disks large homolog 2 (Channel-associated protein of synapse-110) (Chapsyn-110) (Postsynaptic density protein PSD-93)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; juxtaparanode region of axon [GO:0044224]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; guanylate kinase activity [GO:0004385]; ionotropic glutamate receptor binding [GO:0035255]; kinase binding [GO:0019900]; structural constituent of postsynaptic density [GO:0098919]; anterograde axonal protein transport [GO:0099641]; cell-cell adhesion [GO:0098609]; cellular response to potassium ion [GO:0035865]; chemical synaptic transmission [GO:0007268]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; negative regulation of phosphatase activity [GO:0010923]; neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0099645]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]; retrograde axonal protein transport [GO:0099642]; sensory perception of pain [GO:0019233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=PSD93-alpha; IsoId=Q15700-1; Sequence=Displayed; Name=2; Synonyms=PSD93-beta; IsoId=Q15700-2; Sequence=VSP_015513; Name=3; IsoId=Q15700-3; Sequence=VSP_015512, VSP_015514, VSP_015515, VSP_015516; Name=4; Synonyms=PSD93-delta; IsoId=Q15700-4; Sequence=VSP_015511; Name=5; IsoId=Q15700-5; Sequence=VSP_045634, VSP_015516; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q63622}; Lipid-anchor {ECO:0000250|UniProtKB:Q63622}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q63622}. Cell junction, synapse {ECO:0000250}. Membrane {ECO:0000250|UniProtKB:Q63622}. Cell projection, axon {ECO:0000250|UniProtKB:Q63622}. Note=Concentrated in soma and postsynaptic density of a subset of neurons. {ECO:0000250|UniProtKB:Q63622}.


uniprotID: Q9Y2H0
geneSymbol: DLGAP4
reactome: R-HSA-6794361;
length: 992
go: ENSG00000080845;
snps: rs6019652 rs2275807
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
name:
Disks large-associated protein 4 (DAP-4) (PSD-95/SAP90-binding protein 4) (SAP90/PSD-95-associated protein 4) (SAPAP-4)

sequence:

opentargets:
cholinergic synapse [GO:0098981]; glutamatergic synapse [GO:0098978]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; postsynaptic specialization [GO:0099572]; signaling [GO:0023052]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2H0-2; Sequence=Displayed; Name=2; IsoId=Q9Y2H0-1; Sequence=VSP_006013; Name=3; IsoId=Q9Y2H0-3; Sequence=VSP_034910, VSP_034911; 


uniprotID: P16422
geneSymbol: EPCAM
reactome: R-HSA-202733;
pdb: 4MZV;
length: 314
go: ENSG00000119888;
drug: DB05831;DB05319;
snps: rs267606785 rs1126497
name:
Epithelial cell adhesion molecule (Ep-CAM) (Adenocarcinoma-associated antigen) (Cell surface glycoprotein Trop-1) (Epithelial cell surface antigen) (Epithelial glycoprotein) (EGP) (Epithelial glycoprotein 314) (EGP314) (hEGP314) (KS 1/4 antigen) (KSA) (Major gastrointestinal tumor-associated protein GA733-2) (Tumor-associated calcium signal transducer 1) (CD antigen CD326)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; cadherin binding involved in cell-cell adhesion [GO:0098641]; protein-containing complex binding [GO:0044877]; leukocyte migration [GO:0050900]; negative regulation of cell-cell adhesion mediated by cadherin [GO:2000048]; positive regulation of cell proliferation [GO:0008284]; positive regulation of stem cell proliferation [GO:2000648]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction involved in regulation of gene expression [GO:0023019]; stem cell differentiation [GO:0048863]; ureteric bud development [GO:0001657]

location:
SUBCELLULAR LOCATION: Lateral cell membrane {ECO:0000269|PubMed:15195135, ECO:0000269|PubMed:16054130, ECO:0000269|PubMed:19785009}; Single-pass type I membrane protein {ECO:0000269|PubMed:16054130}. Cell junction, tight junction {ECO:0000269|PubMed:16054130}. Note=Colocalizes with CLDN7 at the lateral cell membrane and tight junction. {ECO:0000269|PubMed:16054130}.


uniprotID: Q9UNN8
geneSymbol: PROCR
reactome: R-HSA-140875;R-HSA-202733;
pdb: 1L8J;1LQV;3JTC;4V3D;4V3E;
length: 238
go: ENSG00000101000;
drug: DB00055;DB04327;
snps: rs867186
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Endothelial protein C receptor (Activated protein C receptor) (APC receptor) (Endothelial cell protein C receptor) (CD antigen CD201)

sequence:

opentargets:
cell surface [GO:0009986]; centrosome [GO:0005813]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; blood coagulation [GO:0007596]; negative regulation of coagulation [GO:0050819]


uniprotID: Q8TDM6
geneSymbol: DLG5
pdb: 1UIT;
name: Disks large homolog 5 (Discs large protein P-dlg) (Placenta and prostate DLG)
length: 1919
go: ENSG00000151208;
snps: rs1248696 rs2289310 rs4979794
sequence:

opentargets:
cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; beta-catenin binding [GO:0008013]; cytoskeletal protein binding [GO:0008092]; receptor signaling complex scaffold activity [GO:0030159]; apical protein localization [GO:0045176]; cell-cell adhesion [GO:0098609]; epithelial to mesenchymal transition [GO:0001837]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; intracellular signal transduction [GO:0035556]; maintenance of cell polarity [GO:0030011]; metanephric collecting duct development [GO:0072205]; midbrain development [GO:0030901]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of hippo signaling [GO:0035331]; negative regulation of T cell proliferation [GO:0042130]; polarized epithelial cell differentiation [GO:0030859]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of hippo signaling [GO:0035332]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of synapse assembly [GO:0051965]; protein localization to adherens junction [GO:0071896]; protein-containing complex assembly [GO:0065003]; regulation of apoptotic process [GO:0042981]; signal transduction [GO:0007165]; zonula adherens assembly [GO:0045186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TDM6-1; Sequence=Displayed; Name=2; IsoId=Q8TDM6-2; Sequence=VSP_016349; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDM6-3; Sequence=VSP_027199, VSP_027200, VSP_027201; Note=No experimental confirmation available.; Name=4; IsoId=Q8TDM6-4; Sequence=VSP_027197; Name=5; IsoId=Q8TDM6-5; Sequence=VSP_027198; 

location:
SUBCELLULAR LOCATION: Cell junction {ECO:0000269|PubMed:12657639, ECO:0000269|PubMed:28169360}. Cell membrane {ECO:0000269|PubMed:12657639}; Peripheral membrane protein {ECO:0000269|PubMed:12657639}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:E9Q9R9}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:E9Q9R9}. Note=Localized at sites of cell-cell contact.


uniprotID: O95278
geneSymbol: EPM2A
reactome: R-HSA-3322077;R-HSA-3785653;
pdb: 4R30;4RKK;
length: 331
go: ENSG00000112425;
name:
Laforin (EC 3.1.3.-) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of rough endoplasmic reticulum membrane [GO:0098556]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; carbohydrate phosphatase activity [GO:0019203]; glycogen binding [GO:2001069]; phosphatase activity [GO:0016791]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; starch binding [GO:2001070]; autophagy [GO:0006914]; dephosphorylation [GO:0016311]; glycogen biosynthetic process [GO:0005978]; glycogen metabolic process [GO:0005977]; habituation [GO:0046959]; negative regulation of dephosphorylation [GO:0035305]; negative regulation of phosphatase activity [GO:0010923]; nervous system development [GO:0007399]; peptidyl-tyrosine dephosphorylation [GO:0035335]; phosphorylated carbohydrate dephosphorylation [GO:0046838]; positive regulation of macroautophagy [GO:0016239]; protein dephosphorylation [GO:0006470]

snps:
rs104893955 rs374338349 rs1362231306 rs137852915 rs137852916 rs375544596 rs137852917 rs796052427 rs796052428 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=8;  Name=1; Synonyms=A, LDH1 {ECO:0000303|PubMed:11883934}, Laf331 {ECO:0000303|PubMed:22036712}; IsoId=O95278-1; Sequence=Displayed; Name=2; Synonyms=B, C-terISO, Laf317 {ECO:0000303|PubMed:22036712}; IsoId=O95278-2; Sequence=VSP_011017, VSP_011018; Note=Produced by alternative splicing.; Name=4; Synonyms=Laf152 {ECO:0000303|PubMed:22036712}; IsoId=O95278-4; Sequence=VSP_011015, VSP_011016; Note=Produced by alternative splicing. May be due to an intron retention.; Name=5; Synonyms=Laf224 {ECO:0000303|PubMed:22036712}; IsoId=O95278-5; Sequence=VSP_042496, VSP_042497; Note=Produced by alternative splicing.; Name=6; Synonyms=Laf88 {ECO:0000303|PubMed:22036712}; IsoId=O95278-6; Sequence=VSP_042494; Note=Produced by alternative initiation at Met-244 of isoform 1. Transcript amplified but protein not detected. {ECO:0000269|PubMed:22036712}; Name=7; Synonyms=Laf177 {ECO:0000303|PubMed:22036712}; IsoId=O95278-7; Sequence=VSP_042495; Note=Produced by alternative splicing. Active phosphatase. {ECO:0000269|PubMed:22036712}; Name=8; IsoId=O95278-8; Sequence=VSP_042493; Note=Produced by alternative splicing. No experimental confirmation available.; Name=9; Synonyms=POCR {ECO:0000303|PubMed:22036712}; IsoId=B3EWF7-1; Sequence=External; 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.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11220751, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:15102711, ECO:0000269|PubMed:17908927}. Note=Under glycogenolytic conditions localizes to the nucleus. {ECO:0000269|PubMed:17908927}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:18311786, ECO:0000269|PubMed:18617530, ECO:0000269|PubMed:22036712}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:14722920, ECO:0000269|PubMed:18311786}; Peripheral membrane protein {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:18311786}; Cytoplasmic side {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:18311786}. Cell membrane {ECO:0000269|PubMed:11220751}. Note=Colocalizes with glycogen synthase in punctate structures in the cytoplasm (PubMed:11739371, PubMed:14532330). Primarily associated with polyribosomes at the rough endoplasmic reticulum, and also detected at the plasma membrane (PubMed:11001928, PubMed:11220751, PubMed:11883934, PubMed:18311786). {ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11220751, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:18311786}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:18617530}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11883934}; Peripheral membrane protein {ECO:0000269|PubMed:11883934}; Cytoplasmic side {ECO:0000269|PubMed:11883934}. Cell membrane {ECO:0000269|PubMed:11883934}. Nucleus {ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:14722920, ECO:0000269|PubMed:18617530}. Note=Also found in the nucleus. {ECO:0000269|PubMed:11883934, ECO:0000269|PubMed:18617530}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000269|PubMed:22036712}. Nucleus {ECO:0000269|PubMed:22036712}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:22036712}. Nucleus {ECO:0000269|PubMed:22036712}.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm {ECO:0000269|PubMed:22036712}.


uniprotID: Q9NYJ7
geneSymbol: DLL3
name: Delta-like protein 3 (Drosophila Delta homolog 3) (Delta3)
length: 618
go: ENSG00000090932;
snps: rs71647811 rs55741253 rs8107127 rs1110627 rs104894674
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]; Notch binding [GO:0005112]; compartment pattern specification [GO:0007386]; negative regulation of neurogenesis [GO:0050768]; Notch signaling pathway [GO:0007219]; paraxial mesoderm development [GO:0048339]; skeletal system development [GO:0001501]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYJ7-1; Sequence=Displayed; Name=2; IsoId=Q9NYJ7-2; Sequence=VSP_045249; Note=No experimental confirmation available.; 


uniprotID: Q9UI46
geneSymbol: DNAI1
name: Dynein intermediate chain 1, axonemal (Axonemal dynein intermediate chain 1)
length: 699
go: ENSG00000122735;
snps: rs11547035 rs16931549 rs16931555 rs11793196 rs11999454 rs79833450
sequence:

opentargets:
cilium [GO:0005929]; cytoskeleton [GO:0005856]; dynein complex [GO:0030286]; microtubule [GO:0005874]; outer dynein arm [GO:0036157]; dynein heavy chain binding [GO:0045504]; dynein light chain binding [GO:0045503]; motor activity [GO:0003774]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; flagellated sperm motility [GO:0030317]; microtubule-based movement [GO:0007018]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI46-1; Sequence=Displayed; Name=2; IsoId=Q9UI46-2; Sequence=VSP_056963, VSP_056964; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium {ECO:0000269|PubMed:27120127}.


uniprotID: Q9GZS0
geneSymbol: DNAI2
name: Dynein intermediate chain 2, axonemal (Axonemal dynein intermediate chain 2)
length: 605
go: ENSG00000171595;
snps: rs28725418 rs1979370
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.
sequence:

opentargets:
axonemal dynein complex [GO:0005858]; axoneme [GO:0005930]; dynein complex [GO:0030286]; external side of plasma membrane [GO:0009897]; microtubule [GO:0005874]; outer dynein arm [GO:0036157]; sperm flagellum [GO:0036126]; dynein heavy chain binding [GO:0045504]; dynein light chain binding [GO:0045503]; microtubule motor activity [GO:0003777]; cilium assembly [GO:0060271]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; microtubule-based movement [GO:0007018]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZS0-1; Sequence=Displayed; Name=2; IsoId=Q9GZS0-2; Sequence=VSP_036541; 


uniprotID: Q30KQ6
geneSymbol: DEFB114
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 114 (Beta-defensin 14) (DEFB-14) (Defensin, beta 114)
sequence: MRIFYYLHFLCYVTFILPATCTLVNADRCTKRYGRCKRDCLESEKQIDICSLPRKICCTEKLYEEDDMF
length: 69
go: ENSG00000177684;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
opentargets:
extracellular region [GO:0005576]; lipopolysaccharide binding [GO:0001530]; antifungal innate immune response [GO:0061760]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of tumor necrosis factor secretion [GO:1904468]; positive regulation of inflammatory response [GO:0050729]


