# annotation

uniprotID: Q13087
geneSymbol: PDIA2
name: Protein disulfide-isomerase A2 (EC 5.3.4.1) (Pancreas-specific protein disulfide isomerase) (PDIp)
length: 525
go: ENSG00000185615;
snps: rs45455191 rs45614840 rs419949 rs2685127 rs45529833 rs400037 rs1048786
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; disulfide oxidoreductase activity [GO:0015036]; peptide disulfide oxidoreductase activity [GO:0015037]; protein disulfide isomerase activity [GO:0003756]; steroid binding [GO:0005496]; cell redox homeostasis [GO:0045454]; peptidyl-proline hydroxylation [GO:0019511]; protein folding [GO:0006457]; protein folding in endoplasmic reticulum [GO:0034975]; protein retention in ER lumen [GO:0006621]; regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902175]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13087-1; Sequence=Displayed; Name=2; IsoId=Q13087-2; Sequence=VSP_039292; 


uniprotID: Q29RF7
geneSymbol: PDS5A
reactome: R-HSA-2467813;R-HSA-2468052;R-HSA-2470946;R-HSA-2500257;
length: 1337
go: ENSG00000121892;
name:
Sister chromatid cohesion protein PDS5 homolog A (Cell proliferation-inducing gene 54 protein) (Sister chromatid cohesion protein 112) (SCC-112)

sequence:

opentargets:
chromatin [GO:0000785]; chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cell division [GO:0051301]; DNA repair [GO:0006281]; mitotic sister chromatid cohesion [GO:0007064]; negative regulation of DNA replication [GO:0008156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15489334}; IsoId=Q29RF7-1; Sequence=Displayed; Name=2; IsoId=Q29RF7-3; Sequence=VSP_052491, VSP_052492; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11076961, ECO:0000269|PubMed:15019998}. Note=Associated with chromatin through most of the cell cycle. Dissociates from chromatin in late prophase, reassociates during late telophase. {ECO:0000269|PubMed:11076961, ECO:0000269|PubMed:15019998}.


uniprotID: P52945
geneSymbol: PDX1
reactome: R-HSA-210745;R-HSA-210747;
length: 283
go: ENSG00000139515;
snps: rs137852785 rs137852784 rs137852783 rs137852786
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol {ECO:0000250}.
name:
Pancreas/duodenum homeobox protein 1 (PDX-1) (Glucose-sensitive factor) (GSF) (Insulin promoter factor 1) (IPF-1) (Insulin upstream factor 1) (IUF-1) (Islet/duodenum homeobox-1) (IDX-1) (Somatostatin-transactivating factor 1) (STF-1)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; animal organ morphogenesis [GO:0009887]; detection of glucose [GO:0051594]; digestive tract development [GO:0048565]; endocrine pancreas development [GO:0031018]; exocrine pancreas development [GO:0031017]; generation of precursor metabolites and energy [GO:0006091]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; insulin secretion [GO:0030073]; liver development [GO:0001889]; morphogenesis of embryonic epithelium [GO:0016331]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of type B pancreatic cell apoptotic process [GO:2000675]; nitric oxide mediated signal transduction [GO:0007263]; positive regulation of cell proliferation [GO:0008284]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]; type B pancreatic cell differentiation [GO:0003309]


uniprotID: Q9Y248
geneSymbol: GINS2
reactome: R-HSA-176974;
pdb: 2E9X;2EHO;2Q9Q;
name: DNA replication complex GINS protein PSF2 (GINS complex subunit 2)
length: 185
go: ENSG00000131153;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:
MDAAEVEFLAEKELVTIIPNFSLDKIYLIGGDLGPFNPGLPVEVPLWLAINLKQRQKCRLLPPEWMDVEKLEKMRDHERKEETFTPMPSPYYMELTKLLLNHASDNIPKADEIRTLVKDMWDTRIAKLRVSADSFVRQQEAHAKLDNLTLMEINTSGTFLTQALNHMYKLRTNLQPLESTQSQDF

opentargets:
GINS complex [GO:0000811]; nucleoplasm [GO:0005654]; replication fork protection complex [GO:0031298]; DNA duplex unwinding [GO:0032508]; DNA strand elongation involved in DNA replication [GO:0006271]; double-strand break repair via break-induced replication [GO:0000727]


uniprotID: Q16557
geneSymbol: PSG3
reactome: R-HSA-202733;
length: 428
go: ENSG00000221826;
opentargets: extracellular region [GO:0005576]; defense response [GO:0006952]; female pregnancy [GO:0007565]
snps: rs11559136 rs12185496 rs12185496 rs16976174 rs17173152 rs28698193
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Pregnancy-specific beta-1-glycoprotein 3 (PS-beta-G-3) (PSBG-3) (Pregnancy-specific glycoprotein 3) (Carcinoembryonic antigen SG5)

sequence:


uniprotID: Q13200
geneSymbol: PSMD2
length: 908
go: ENSG00000175166;
snps: rs11545172 rs11545169 rs17856236
pdb:
5GJQ;5GJR;5L4K;5LN3;5T0C;5T0G;5T0H;5T0I;5T0J;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;5VHF;5VHH;5VHI;5VHJ;5VHM;5VHN;5VHO;5VHP;5VHQ;5VHR;5VHS;

name:
26S proteasome non-ATPase regulatory subunit 2 (26S proteasome regulatory subunit RPN1) (26S proteasome regulatory subunit S2) (26S proteasome subunit p97) (Protein 55.11) (Tumor necrosis factor type 1 receptor-associated protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle [GO:0005838]; proteasome regulatory particle, base subcomplex [GO:0008540]; proteasome storage granule [GO:0034515]; secretory granule lumen [GO:0034774]; enzyme regulator activity [GO:0030234]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; regulation of protein catabolic process [GO:0042176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13200-1; Sequence=Displayed; Name=2; IsoId=Q13200-2; Sequence=VSP_055065; Note=No experimental confirmation available.; Name=3; IsoId=Q13200-3; Sequence=VSP_055066; Note=No experimental confirmation available.; 


uniprotID: O60542
geneSymbol: PSPN
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
name: Persephin (PSP)
length: 156
go: ENSG00000125650;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MAVGKFLLGSLLLLSLQLGQGWGPDARGVPVADGEFSSEQVAKAGGTWLGTHRPLARLRRALSGPCQLWSLTLSVAELGLGYASEEKVIFRYCAGSCPRGARTQHGLALARLQGQGRAHGGPCCRPTRYTDVAFLDDRHRWQRLPQLSAAACGCGG

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; growth factor activity [GO:0008083]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; central nervous system development [GO:0007417]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]


uniprotID: Q9NZ53
geneSymbol: PODXL2
reactome: R-HSA-156584;
name: Podocalyxin-like protein 2 (Endoglycan)
length: 605
go: ENSG00000114631;
snps: rs34117815
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; glycosaminoglycan binding [GO:0005539]; leukocyte tethering or rolling [GO:0050901]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZ53-1; Sequence=Displayed; Name=2; IsoId=Q9NZ53-2; Sequence=VSP_020876; Note=No experimental confirmation available.; 


uniprotID: P01213
geneSymbol: PDYN
reactome: R-HSA-111885;R-HSA-202040;R-HSA-375276;R-HSA-418594;
pdb: 2N2F;
length: 254
go: ENSG00000101327;
snps: rs773876922 rs369559888 rs267606941 rs575606358 rs1004881058 rs267606940 rs201486601 rs267606939
location: SUBCELLULAR LOCATION: Secreted.
name:
Proenkephalin-B (Beta-neoendorphin-dynorphin) (Preprodynorphin) [Cleaved into: Alpha-neoendorphin; Beta-neoendorphin; Big dynorphin (Big Dyn); Dynorphin A(1-17) (Dyn-A17) (Dynorphin A); Dynorphin A(1-13); Dynorphin A(1-8); Leu-enkephalin; Rimorphin (Dynorphin B) (Dyn-B) (Dynorphin B(1-13)); Leumorphin (Dynorphin B-29)]

sequence:

opentargets:
axon terminus [GO:0043679]; dendrite [GO:0030425]; extracellular region [GO:0005576]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; opioid peptide activity [GO:0001515]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q9NZ42
geneSymbol: PSENEN
pdb: 5A63;5FN2;5FN3;5FN4;5FN5;
name: Gamma-secretase subunit PEN-2 (Presenilin enhancer protein 2)
length: 101
go: ENSG00000205155;
drug: DB05171;
reactome:
R-HSA-1251985;R-HSA-193692;R-HSA-205043;R-HSA-2122948;R-HSA-2644606;R-HSA-2894862;R-HSA-2979096;R-HSA-3928665;R-HSA-9013507;R-HSA-9013700;R-HSA-9017802;

sequence:
MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRSAVGFLFWVIVLTSWITIFQIYRPRWGALGDYLSFTIPLGTP

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; gamma-secretase complex [GO:0070765]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amyloid precursor protein catabolic process [GO:0042987]; amyloid precursor protein metabolic process [GO:0042982]; amyloid-beta formation [GO:0034205]; membrane protein ectodomain proteolysis [GO:0006509]; Notch receptor processing [GO:0007220]; Notch receptor processing, ligand-dependent [GO:0035333]; positive regulation of catalytic activity [GO:0043085]; protein processing [GO:0016485]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12639958}; Multi-pass membrane protein {ECO:0000269|PubMed:12639958, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12639958}; Multi-pass membrane protein {ECO:0000269|PubMed:12639958, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Cell membrane {ECO:0000269|PubMed:24941111}; Multi-pass membrane protein {ECO:0000269|PubMed:12639958, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Membrane {ECO:0000269|PubMed:12198112}; Multi-pass membrane protein {ECO:0000269|PubMed:12639958, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000269|PubMed:12639958}.


uniprotID: Q5VVQ6
geneSymbol: YOD1
reactome: R-HSA-5689896;
pdb: 4BOQ;4BOS;4BOZ;
length: 348
go: ENSG00000180667;
name:
Ubiquitin thioesterase OTU1 (EC 3.4.19.12) (DUBA-8) (HIV-1-induced protease 7) (HIN-7) (HsHIN7) (OTU domain-containing protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Lys48-specific deubiquitinase activity [GO:1990380]; Lys63-specific deubiquitinase activity [GO:0061578]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-specific protease activity involved in negative regulation of retrograde protein transport, ER to cytosol [GO:1904265]; endoplasmic reticulum unfolded protein response [GO:0030968]; macroautophagy [GO:0016236]; protein deubiquitination [GO:0016579]; protein K11-linked deubiquitination [GO:0035871]; protein K27-linked deubiquitination [GO:1990167]; protein K29-linked deubiquitination [GO:0035523]; protein K33-linked deubiquitination [GO:1990168]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VVQ6-1; Sequence=Displayed; Name=2; IsoId=Q5VVQ6-2; Sequence=VSP_024122; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27753622}. Note=Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains. {ECO:0000269|PubMed:27753622}.


uniprotID: Q6IE37
geneSymbol: OVOS1
name: Ovostatin homolog 1
length: 1185
opentargets: extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:


uniprotID: Q6IE36
geneSymbol: OVOS2
name: Ovostatin homolog 2
length: 1432
opentargets: extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]
snps: rs7971718 rs12309295 rs11051266 rs17418189
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:


uniprotID: Q9H0X9
geneSymbol: OSBPL5
reactome: R-HSA-1482801;
length: 879
go: ENSG00000021762;
snps: rs6578323 rs2277301
name:
Oxysterol-binding protein-related protein 5 (ORP-5) (OSBP-related protein 5) (Oxysterol-binding protein homolog 1)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; oxysterol binding [GO:0008142]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylserine binding [GO:0001786]; phospholipid transporter activity [GO:0005548]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; Golgi to plasma membrane transport [GO:0006893]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid transport [GO:0015914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H0X9-1; Sequence=Displayed; Name=2; IsoId=Q9H0X9-2; Sequence=VSP_043071; Note=No experimental confirmation available.; Name=3; IsoId=Q9H0X9-3; Sequence=VSP_057408, VSP_057409; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21220512, ECO:0000269|PubMed:26206935}; Single-pass membrane protein {ECO:0000269|PubMed:21220512}. Note=Localizes to the cortical endoplasmic reticulum at the endoplasmic reticulum-plasma membrane contact sites. {ECO:0000269|PubMed:26206935}.


uniprotID: Q96HA1
geneSymbol: POM121
pdb: 5T6W;
length: 1249
go: ENSG00000196313;
snps: rs3177261
reactome:
R-HSA-1169408;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;R-HSA-165054;R-HSA-168271;R-HSA-168276;R-HSA-168325;R-HSA-168333;R-HSA-170822;R-HSA-180746;R-HSA-180910;R-HSA-191859;R-HSA-3108214;R-HSA-3232142;R-HSA-3301854;R-HSA-3371453;R-HSA-4085377;R-HSA-4551638;R-HSA-4570464;R-HSA-4615885;R-HSA-5578749;R-HSA-6784531;

name:
Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nuclear localization sequence binding [GO:0008139]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; protein import into nucleus [GO:0006606]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96HA1-1; Sequence=Displayed; Name=2; IsoId=Q96HA1-2; Sequence=VSP_035010; Name=3; IsoId=Q96HA1-3; Sequence=VSP_035010, VSP_035011; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:17900573}. Nucleus membrane {ECO:0000269|PubMed:17900573}; Single-pass membrane protein {ECO:0000269|PubMed:17900573}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Stably associated with the NPC throughout interphase and the endoplasmic reticulum during metaphase. {ECO:0000250}.


uniprotID: Q5VU65
geneSymbol: NUP210L
name: Nuclear pore membrane glycoprotein 210-like (Nucleoporin 210 kDa-like) (Nucleoporin Nup210-like)
length: 1888
go: ENSG00000143552;
snps: rs11264875
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear pore [GO:0005643]; Sertoli cell development [GO:0060009]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VU65-1; Sequence=Displayed; Name=2; IsoId=Q5VU65-2; Sequence=VSP_053811; 


uniprotID: Q15072
geneSymbol: ZNF146
name: Zinc finger protein OZF (Only zinc finger protein) (Zinc finger protein 146)
length: 292
go: ENSG00000167635;
snps: rs2070132
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8665923}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; heparin binding [GO:0008201]; zinc ion binding [GO:0008270]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q8N7R1
geneSymbol: POM121L12
name: POM121-like protein 12
length: 296
go: ENSG00000221900;
snps: rs10229800 rs11238247 rs1689291
sequence:

opentargets:
nuclear pore [GO:0005643]; nuclear localization sequence binding [GO:0008139]; structural constituent of nuclear pore [GO:0017056]; protein import into nucleus [GO:0006606]


uniprotID: Q3MJ16
geneSymbol: PLA2G4E
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1483115;
name: Cytosolic phospholipase A2 epsilon (cPLA2-epsilon) (EC 3.1.1.4) (Phospholipase A2 group IVE)
length: 868
go: ENSG00000188089;
snps: rs4924595 rs8030775
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosomal membrane [GO:0005765]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; calcium-dependent phospholipid binding [GO:0005544]; lysophospholipase activity [GO:0004622]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; glycerophospholipid catabolic process [GO:0046475]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3MJ16-3; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q3MJ16-2; Sequence=VSP_019883; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Lysosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Translocates to lysosomal membranes in a calcium-dependent fashion. {ECO:0000250}.


uniprotID: O60829
geneSymbol: PAGE4
name: P antigen family member 4 (PAGE-4) (G antigen family C member 1) (PAGE-1)
length: 102
go: ENSG00000101951;
sequence:
MSARVRSRSRGRGDGQEAPDVVAFVAPGESQQEEPPTDNQDIEPGQEREGTPPIEERKVEGDCQEMDLEKTRSERGDGSDVKEKTPPNPKHAKTKEAGDGQP


uniprotID: P11940
geneSymbol: PABPC1
reactome: R-HSA-156827;R-HSA-429947;R-HSA-450408;R-HSA-72649;R-HSA-9010553;R-HSA-975956;R-HSA-975957;
name: Polyadenylate-binding protein 1 (PABP-1) (Poly(A)-binding protein 1)
length: 636
go: ENSG00000070756;
pdb:
1CVJ;1G9L;1JGN;1JH4;2K8G;2RQG;2RQH;2X04;3KTP;3KTR;3KUI;3KUJ;3KUR;3KUS;3KUT;3PKN;3PTH;4F02;4F25;4F26;5DX1;5DX8;5DXA;5LGP;5LGQ;5LGR;5LGS;

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; protein C-terminus binding [GO:0008022]; RNA binding [GO:0003723]; translation activator activity [GO:0008494]; gene silencing by RNA [GO:0031047]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; mRNA stabilization [GO:0048255]; negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:2000623]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; positive regulation of viral genome replication [GO:0045070]; regulation of mRNA stability [GO:0043488]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11940-1; Sequence=Displayed; Name=2; IsoId=P11940-2; Sequence=VSP_009846; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20573744, ECO:0000269|PubMed:7908267, ECO:0000269|PubMed:9582337}. Nucleus {ECO:0000269|PubMed:18799579, ECO:0000269|PubMed:9582337}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs (PubMed:17289661). Shuttles between the cytoplasm and the nucleus (PubMed:9582337). {ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:9582337}.


uniprotID: Q6VY07
geneSymbol: PACS1
reactome: R-HSA-164940;
name: Phosphofurin acidic cluster sorting protein 1 (PACS-1)
length: 963
go: ENSG00000175115;
snps: rs398123009 rs12798852
sequence:

opentargets:
COPI-coated vesicle [GO:0030137]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; ion channel binding [GO:0044325]; protein localization to Golgi apparatus [GO:0034067]; protein localization to plasma membrane [GO:0072659]; regulation of defense response to virus by virus [GO:0050690]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6VY07-1; Sequence=Displayed; Name=2; IsoId=Q6VY07-2; Sequence=VSP_011557; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:O88588}. Note=Localizes in the perinuclear region, probably the TGN. {ECO:0000305|PubMed:11331585}.


uniprotID: F5H284
geneSymbol: PPIAL4D
name: Peptidyl-prolyl cis-trans isomerase A-like 4D (PPIase A-like 4D) (EC 5.2.1.8)
length: 164
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P62937}.
sequence:
MVNSVVFFEITRDGKPLGRISIKLFADKIPKTAENFRALSTGEKGFRYKGSCFHRIIPGFMCQGGDFTRPNGTGDKSIYGEKFDDENLIRKHTGSGILSMANAGPNTNGSQFFICAAKTEWLDGKHVAFGKVKERVNIVEATEHFGYRNSKTSKKITIADCGQF

opentargets:
mitochondrion [GO:0005739]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q8N7H5
geneSymbol: PAF1
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;R-HSA-8866654;
pdb: 4M6T;5ZYQ;6GMH;
name: RNA polymerase II-associated factor 1 homolog (hPAF1) (Pancreatic differentiation protein 2)
length: 531
go: ENSG00000006712;
sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; transcriptionally active chromatin [GO:0035327]; chromatin binding [GO:0003682]; RNA polymerase II complex binding [GO:0000993]; cellular response to lipopolysaccharide [GO:0071222]; endodermal cell fate commitment [GO:0001711]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; mRNA polyadenylation [GO:0006378]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleosome positioning [GO:0016584]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of histone methylation [GO:0031062]; positive regulation of mRNA 3'-end processing [GO:0031442]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; protein localization to nucleus [GO:0034504]; protein ubiquitination [GO:0016567]; stem cell population maintenance [GO:0019827]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N7H5-1; Sequence=Displayed; Name=2; IsoId=Q8N7H5-2; Sequence=VSP_032650, VSP_032651, VSP_032652; Note=No experimental confirmation available.; Name=3; IsoId=Q8N7H5-3; Sequence=VSP_032650, VSP_055740, VSP_055741; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16491129}. Note=Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin.


uniprotID: Q9ULR5
geneSymbol: PAIP2B
length: 123
go: ENSG00000124374;
name:
Polyadenylate-binding protein-interacting protein 2B (PABP-interacting protein 2B) (PAIP-2B) (Poly(A)-binding protein-interacting protein 2B)

sequence:
MNGSNMANTSPSVKSKEDQGLSGHDEKENPFAEYMWMENEEDFNRQVEEELQEQDFLDRCFQEMLDEEDQDWFIPSRDLPQAMGQLQQQLNGLSVSEGHDSEDILSKSNLNPDAKEFIPGEKY

opentargets:
cytoplasm [GO:0005737]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; negative regulation of translational initiation [GO:0045947]


uniprotID: P05120
geneSymbol: SERPINB2
reactome: R-HSA-75205;R-HSA-8950505;
pdb: 1BY7;1JRR;2ARQ;2ARR;
length: 415
go: ENSG00000197632;
drug: DB00031;DB00013;
snps: rs6098 rs6100 rs34066931 rs6103 rs6104
location: SUBCELLULAR LOCATION: Cytoplasm. Secreted, extracellular space.
name:
Plasminogen activator inhibitor 2 (PAI-2) (Monocyte Arg-serpin) (Placental plasminogen activator inhibitor) (Serpin B2) (Urokinase inhibitor)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; serine-type endopeptidase inhibitor activity [GO:0004867]; fibrinolysis [GO:0042730]; interleukin-12-mediated signaling pathway [GO:0035722]; negative regulation of apoptotic process [GO:0043066]; negative regulation of endopeptidase activity [GO:0010951]; wound healing [GO:0042060]


uniprotID: A0A0B4J2A2
geneSymbol: PPIAL4C
name: Peptidyl-prolyl cis-trans isomerase A-like 4C (PPIase A-like 4C) (EC 5.2.1.8)
length: 164
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P62937}.
sequence:
MVNSVVFFDITVDGKPLGRISIKLFADKIPKTAENFRALSTGEKGFRYKGSCFHRIIPGFMCQGGDFTRPNGTGDKSIYGEKFDDENLIRKHTGSGILSMANAGPNTNGSQFFICTAKTEWLDGKHVAFGKVKERVNIVEAMEHFGYRNSKTSKKITIADCGQF

opentargets:
mitochondrion [GO:0005739]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q7Z2X4
geneSymbol: PID1
length: 250
go: ENSG00000153823;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16815647}.
name:
PTB-containing, cubilin and LRP1-interacting protein (P-CLI1) (Phosphotyrosine interaction domain-containing protein 1) (Protein NYGGF4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cellular response to cytokine stimulus [GO:0071345]; cellular response to fatty acid [GO:0071398]; cellular response to interleukin-6 [GO:0071354]; cellular response to leptin stimulus [GO:0044320]; cellular response to tumor necrosis factor [GO:0071356]; energy reserve metabolic process [GO:0006112]; mitochondrion morphogenesis [GO:0070584]; negative regulation of ATP biosynthetic process [GO:2001170]; negative regulation of glucose import [GO:0046325]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of protein localization to plasma membrane [GO:1903077]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of fat cell proliferation [GO:0070346]; positive regulation of gene expression [GO:0010628]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of mitochondrial fusion [GO:0010635]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of reactive oxygen species metabolic process [GO:2000377]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z2X4-1; Sequence=Displayed; Name=2; IsoId=Q7Z2X4-2; Sequence=VSP_022910; Name=3; IsoId=Q7Z2X4-3; Sequence=VSP_022909, VSP_022912; Name=4; IsoId=Q7Z2X4-4; Sequence=VSP_022911; 


uniprotID: Q9Y6V0
geneSymbol: PCLO
pdb: 1UJD;
name: Protein piccolo (Aczonin)
length: 5142
go: ENSG00000186472;
snps: rs10261848 rs976714
sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytoskeleton of presynaptic active zone [GO:0048788]; extracellular exosome [GO:0070062]; postsynaptic density [GO:0014069]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; profilin binding [GO:0005522]; structural constituent of presynaptic active zone [GO:0098882]; cAMP-mediated signaling [GO:0019933]; cytoskeleton organization [GO:0007010]; insulin secretion [GO:0030073]; presynapse to nucleus signaling pathway [GO:0099526]; protein localization to synapse [GO:0035418]; regulation of exocytosis [GO:0017157]; synapse assembly [GO:0007416]; synaptic vesicle clustering [GO:0097091]; synaptic vesicle exocytosis [GO:0016079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=5; IsoId=Q9Y6V0-5; Sequence=Displayed; Name=3; IsoId=Q9Y6V0-3; Sequence=VSP_059461, VSP_059462, VSP_059463, VSP_059464, VSP_059465; Name=6; IsoId=Q9Y6V0-6; Sequence=VSP_059464, VSP_059465; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250}. Note=Concentrated at the presynaptic side of synaptic junctions. {ECO:0000250}.


uniprotID: Q15154
geneSymbol: PCM1
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Pericentriolar material 1 protein (PCM-1) (hPCM-1)
length: 2024
sequence:

opentargets:
apical part of cell [GO:0045177]; centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary transition zone [GO:0035869]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; pericentriolar material [GO:0000242]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; cytoplasmic microtubule organization [GO:0031122]; G2/M transition of mitotic cell cycle [GO:0000086]; interkinetic nuclear migration [GO:0022027]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule anchoring [GO:0034453]; microtubule anchoring at centrosome [GO:0034454]; negative regulation of neurogenesis [GO:0050768]; neuron migration [GO:0001764]; neuronal stem cell population maintenance [GO:0097150]; non-motile cilium assembly [GO:1905515]; positive regulation of intracellular protein transport [GO:0090316]; protein localization to centrosome [GO:0071539]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; social behavior [GO:0035176]

snps:
rs412750 rs2285302 rs208753 rs34325017 rs17635381 rs7009117 rs17514547 rs34932823 rs370429 rs36113670 rs35789133 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q15154-1; Sequence=Displayed; Name=2; IsoId=Q15154-2; Sequence=VSP_022611; Name=3; IsoId=Q15154-3; Sequence=VSP_022609, VSP_022610; Name=4; IsoId=Q15154-4; Sequence=VSP_059399, VSP_022611, VSP_059401; Note=Gene prediction based on EST data.; Name=5; IsoId=Q15154-5; Sequence=VSP_059400; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20719959}. Cytoplasmic granule {ECO:0000269|PubMed:15107855}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:15107855, ECO:0000269|PubMed:20719959}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24121310}. Note=Recruitment to the centrosome requires microtubules and dynein. The majority of the protein dissociates from the centrosome during metaphase and subsequently localizes to the cleavage site in telophase. Displaced from centriolar satellites and centrosome in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling.


uniprotID: Q9NV79
geneSymbol: PCMTD2
name: Protein-L-isoaspartate O-methyltransferase domain-containing protein 2
length: 361
go: ENSG00000203880;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; protein-L-isoaspartate (D-aspartate) O-methyltransferase activity [GO:0004719]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NV79-1; Sequence=Displayed; Name=2; IsoId=Q9NV79-2; Sequence=VSP_008547; Note=No experimental confirmation available.; Name=3; IsoId=Q9NV79-3; Sequence=VSP_008546, VSP_008548; Note=No experimental confirmation available.; 


uniprotID: Q8IVA1
geneSymbol: PCP2
reactome: R-HSA-418594;
name: Purkinje cell protein 2 homolog
length: 136
go: ENSG00000174788;
sequence:
MMDQEEKTEEGSGPCAEAGSPDQEGFFNLLSHVQGDRMEGQRCSLQAGPGQTTKSQSDPTPEMDSLMDMLASTQGRRMDDQRVTVSSLPGFQPVGSKDGAQKRAGTLSPQPLLTPQDPTALGFRRNSSPQPPTQAP

opentargets:
neuronal cell body [GO:0043025]; GTPase regulator activity [GO:0030695]; guanyl-nucleotide exchange factor activity [GO:0005085]; rhodopsin mediated signaling pathway [GO:0016056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVA1-1; Sequence=Displayed; Name=2; IsoId=Q8IVA1-2; Sequence=VSP_055654; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q15113
geneSymbol: PCOLCE
reactome: R-HSA-1650814;R-HSA-2243919;
pdb: 1UAP;6FZV;6FZW;
length: 449
go: ENSG00000106333;
location: SUBCELLULAR LOCATION: Secreted.
name:
Procollagen C-endopeptidase enhancer 1 (Procollagen COOH-terminal proteinase enhancer 1) (PCPE-1) (Procollagen C-proteinase enhancer 1) (Type 1 procollagen C-proteinase enhancer protein) (Type I procollagen COOH-terminal proteinase enhancer)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; peptidase activator activity [GO:0016504]; cellular response to leukemia inhibitory factor [GO:1990830]; multicellular organism development [GO:0007275]; proteolysis [GO:0006508]


uniprotID: P42785
geneSymbol: PRCP
reactome: R-HSA-140837;R-HSA-6798695;
pdb: 3N2Z;
length: 496
go: ENSG00000137509;
snps: rs2229437 rs2228312
location: SUBCELLULAR LOCATION: Lysosome.
name:
Lysosomal Pro-X carboxypeptidase (EC 3.4.16.2) (Angiotensinase C) (Lysosomal carboxypeptidase C) (Proline carboxypeptidase) (Prolylcarboxypeptidase) (PRCP)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; basal part of cell [GO:0045178]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; plasma membrane [GO:0005886]; dipeptidyl-peptidase activity [GO:0008239]; serine-type carboxypeptidase activity [GO:0004185]; angiogenesis involved in wound healing [GO:0060055]; blood coagulation, intrinsic pathway [GO:0007597]; energy homeostasis [GO:0097009]; glucose homeostasis [GO:0042593]; negative regulation of systemic arterial blood pressure [GO:0003085]; neutrophil degranulation [GO:0043312]; plasma kallikrein-kinin cascade [GO:0002353]; proteolysis [GO:0006508]; regulation of blood vessel endothelial cell migration [GO:0043535]; regulation of reactive oxygen species metabolic process [GO:2000377]; regulation of thyroid hormone mediated signaling pathway [GO:0002155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42785-1; Sequence=Displayed; Name=2; IsoId=P42785-2; Sequence=VSP_045799; Note=No experimental confirmation available.; 


uniprotID: Q9UHG2
geneSymbol: PCSK1N
length: 260
go: ENSG00000102109;
snps: rs11538176
name:
ProSAAS (Proprotein convertase subtilisin/kexin type 1 inhibitor) (Proprotein convertase 1 inhibitor) (pro-SAAS) [Cleaved into: KEP; Big SAAS (b-SAAS); Little SAAS (l-SAAS) (N-proSAAS); Big PEN-LEN (b-PEN-LEN) (SAAS CT(1-49)); PEN; Little LEN (l-LEN); Big LEN (b-LEN) (SAAS CT(25-40))]

sequence:

opentargets:
extracellular space [GO:0005615]; secretory granule [GO:0030141]; trans-Golgi network [GO:0005802]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; signaling receptor binding [GO:0005102]; neuropeptide signaling pathway [GO:0007218]; peptide hormone processing [GO:0016486]; response to cold [GO:0009409]; response to dietary excess [GO:0002021]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9QXV0}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q9QXV0}. Note=A N-terminal processed peptide, probably Big SAAS or Little SAAS, is accumulated in cytoplasmic protein tau deposits in frontotemporal dementia and parkinsonism linked to chromosome 17 (Pick disease), Alzheimer disease and amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (Guam disease). {ECO:0000269|PubMed:12914799, ECO:0000269|PubMed:14746899}.


uniprotID: Q6UW60
geneSymbol: PCSK4
name: Proprotein convertase subtilisin/kexin type 4 (EC 3.4.21.-) (Proprotein convertase 4) (PC4)
length: 755
go: ENSG00000115257;
snps: rs36123574
sequence:

opentargets:
acrosomal membrane [GO:0002080]; acrosomal vesicle [GO:0001669]; integral component of membrane [GO:0016021]; serine-type endopeptidase activity [GO:0004252]; acrosome reaction [GO:0007340]; binding of sperm to zona pellucida [GO:0007339]; fertilization [GO:0009566]; protein processing [GO:0016485]; reproductive process [GO:0022414]; sperm capacitation [GO:0048240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12975309}; IsoId=Q6UW60-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q6UW60-2; Sequence=VSP_052097; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250|UniProtKB:P29121}.


uniprotID: P29122
geneSymbol: PCSK6
reactome: R-HSA-1181150;R-HSA-167060;R-HSA-6809371;R-HSA-8963889;
length: 969
go: ENSG00000140479;
snps: rs1058260
name:
Proprotein convertase subtilisin/kexin type 6 (EC 3.4.21.-) (Paired basic amino acid cleaving enzyme 4) (Subtilisin-like proprotein convertase 4) (SPC4) (Subtilisin/kexin-like protease PACE4)

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; endopeptidase activity [GO:0004175]; heparin binding [GO:0008201]; nerve growth factor binding [GO:0048406]; serine-type endopeptidase activity [GO:0004252]; cornification [GO:0070268]; determination of left/right symmetry [GO:0007368]; glycoprotein metabolic process [GO:0009100]; nerve growth factor production [GO:0032902]; peptide hormone processing [GO:0016486]; protein processing [GO:0016485]; regulation of BMP signaling pathway [GO:0030510]; regulation of lipoprotein lipase activity [GO:0051004]; secretion by cell [GO:0032940]; zygotic determination of anterior/posterior axis, embryo [GO:0007354]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=PACE4A-I; Synonyms=PACE4; IsoId=P29122-1; Sequence=Displayed; Name=PACE4A-II; IsoId=P29122-2; Sequence=VSP_005436; Name=PACE4B; Synonyms=PACE4.1; IsoId=P29122-3; Sequence=VSP_005428, VSP_005429; Note=Probably enzymatically inactive.; Name=PACE4C; IsoId=P29122-4; Sequence=VSP_005432, VSP_005433; Note=Probably enzymatically inactive.; Name=PACE4CS; IsoId=P29122-5; Sequence=VSP_005430, VSP_005431; Note=Probably enzymatically inactive.; Name=PACE4D; IsoId=P29122-6; Sequence=VSP_005427, VSP_005434, VSP_005435; Note=Probably enzymatically inactive.; Name=PACE4E-I; IsoId=P29122-7; Sequence=VSP_005437; Name=PACE4E-II; IsoId=P29122-8; Sequence=VSP_005436, VSP_005437; 

location:
SUBCELLULAR LOCATION: Isoform PACE4A-I: Secreted.; SUBCELLULAR LOCATION: Isoform PACE4A-II: Secreted.; SUBCELLULAR LOCATION: Isoform PACE4C: Endoplasmic reticulum. Note=Not secreted, remains probably in zymogen form in endoplasmic reticulum.; SUBCELLULAR LOCATION: Isoform PACE4CS: Endoplasmic reticulum. Note=Not secreted, remains probably in zymogen form in endoplasmic reticulum.; SUBCELLULAR LOCATION: Isoform PACE4E-I: Endomembrane system; Peripheral membrane protein. Note=Retained intracellularly probably through a hydrophobic cluster in their C-terminus.; SUBCELLULAR LOCATION: Isoform PACE4E-II: Endomembrane system; Peripheral membrane protein. Note=Retained intracellularly probably through a hydrophobic cluster in their C-terminus.; SUBCELLULAR LOCATION: Isoform PACE4B: Secreted.


uniprotID: Q8NBP7
geneSymbol: PCSK9
reactome: R-HSA-381426;R-HSA-8866427;R-HSA-8957275;R-HSA-8964038;
length: 692
go: ENSG00000169174;
drug: DB09302;DB09303;
pdb:
2P4E;2PMW;2QTW;2W2M;2W2N;2W2O;2W2P;2W2Q;2XTJ;3BPS;3GCW;3GCX;3H42;3M0C;3P5B;3P5C;3SQO;4K8R;4NE9;4NMX;4OV6;5OCA;5VL7;5VLA;5VLH;5VLK;5VLL;5VLP;

name:
Proprotein convertase subtilisin/kexin type 9 (EC 3.4.21.-) (Neural apoptosis-regulated convertase 1) (NARC-1) (Proprotein convertase 9) (PC9) (Subtilisin/kexin-like protease PC9)

sequence:

opentargets:
cell surface [GO:0009986]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; endolysosome membrane [GO:0036020]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of external side of plasma membrane [GO:0031232]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; PCSK9-AnxA2 complex [GO:1990667]; PCSK9-LDLR complex [GO:1990666]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; apolipoprotein binding [GO:0034185]; apolipoprotein receptor binding [GO:0034190]; low-density lipoprotein particle binding [GO:0030169]; low-density lipoprotein particle receptor binding [GO:0050750]; protein self-association [GO:0043621]; receptor inhibitor activity [GO:0030547]; RNA binding [GO:0003723]; serine-type endopeptidase activity [GO:0004252]; sodium channel inhibitor activity [GO:0019871]; very-low-density lipoprotein particle binding [GO:0034189]; very-low-density lipoprotein particle receptor binding [GO:0070326]; apoptotic process [GO:0006915]; cellular protein metabolic process [GO:0044267]; cellular response to insulin stimulus [GO:0032869]; cellular response to starvation [GO:0009267]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; kidney development [GO:0001822]; lipoprotein metabolic process [GO:0042157]; liver development [GO:0001889]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; lysosomal transport [GO:0007041]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; negative regulation of low-density lipoprotein particle receptor binding [GO:1905596]; negative regulation of low-density lipoprotein receptor activity [GO:1905598]; negative regulation of receptor recycling [GO:0001920]; negative regulation of receptor-mediated endocytosis involved in cholesterol transport [GO:1905601]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; neurogenesis [GO:0022008]; neuron differentiation [GO:0030182]; phospholipid metabolic process [GO:0006644]; positive regulation of low-density lipoprotein particle receptor catabolic process [GO:0032805]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of receptor internalization [GO:0002092]; post-translational protein modification [GO:0043687]; protein autoprocessing [GO:0016540]; regulation of neuron apoptotic process [GO:0043523]; regulation of signaling receptor activity [GO:0010469]; triglyceride metabolic process [GO:0006641]

snps:
rs11591147 rs11583680 rs145886902 rs756060557 rs151193009 rs775988212 rs28942111 rs143117125 rs533273863 rs794728683 rs28942112 rs970575319 rs778617372 rs148195424 rs72646508 rs370507566 rs137852912 rs137852912 rs146471967 rs368257906 rs143275858 rs28362261 rs28362263 rs141502002 rs562556 rs141995194 rs374603772 rs1356131564 rs777300852 rs28362270 rs149311926 rs755750316 rs28362277 rs762298323 rs505151 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBP7-1; Sequence=Displayed; Name=2; IsoId=Q8NBP7-2; Sequence=VSP_008844, VSP_008845, VSP_008846; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Secreted. Endosome. Lysosome. Cell surface. Endoplasmic reticulum. Golgi apparatus. Note=Autocatalytic cleavage is required to transport it from the endoplasmic reticulum to the Golgi apparatus and for the secretion of the mature protein. Localizes to the endoplasmic reticulum in the absence of LDLR and colocalizes to the cell surface and to the endosomes/lysosomes in the presence of LDLR. The sorting to the cell surface and endosomes is required in order to fully promote LDLR degradation.


uniprotID: O00231
geneSymbol: PSMD11
length: 422
go: ENSG00000108671;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}.
name:
26S proteasome non-ATPase regulatory subunit 11 (26S proteasome regulatory subunit RPN6) (26S proteasome regulatory subunit S9) (26S proteasome regulatory subunit p44.5)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle, lid subcomplex [GO:0008541]; secretory granule lumen [GO:0034774]; structural molecule activity [GO:0005198]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasome assembly [GO:0043248]; protein deubiquitination [GO:0016579]; stem cell differentiation [GO:0048863]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00231-1; Sequence=Displayed; Name=2; IsoId=O00231-2; Sequence=VSP_044400; Note=No experimental confirmation available.; 


uniprotID: Q9Y5K3
geneSymbol: PCYT1B
reactome: R-HSA-1483191;
length: 369
go: ENSG00000102230;
drug: DB00122;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum.
name:
Choline-phosphate cytidylyltransferase B (EC 2.7.7.15) (CCT-beta) (CTP:phosphocholine cytidylyltransferase B) (CCT B) (CT B) (Phosphorylcholine transferase B)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; choline-phosphate cytidylyltransferase activity [GO:0004105]; phosphatidylcholine binding [GO:0031210]; ovarian follicle development [GO:0001541]; phosphatidylcholine biosynthetic process [GO:0006656]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=Q9Y5K3-1; Sequence=Displayed; Name=1; IsoId=Q9Y5K3-2; Sequence=VSP_001226; Name=3; IsoId=Q9Y5K3-3; Sequence=VSP_020045, VSP_020046; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y5K3-4; Sequence=VSP_044659; Note=No experimental confirmation available.; 


uniprotID: A5PKW4
geneSymbol: PSD
length: 1024
go: ENSG00000059915;
name:
PH and SEC7 domain-containing protein 1 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6) (Exchange factor for ARF6) (Exchange factor for ARF6 A) (Pleckstrin homology and SEC7 domain-containing protein 1)

sequence:

opentargets:
cleavage furrow [GO:0032154]; dendritic spine [GO:0043197]; extrinsic component of postsynaptic endosome membrane [GO:0098999]; postsynaptic density, intracellular component [GO:0099092]; ruffle membrane [GO:0032587]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; phospholipid binding [GO:0005543]; neuron projection development [GO:0031175]; regulation of ARF protein signal transduction [GO:0032012]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms may exist.; Name=1; IsoId=A5PKW4-1; Sequence=Displayed; Name=2; IsoId=A5PKW4-2; Sequence=VSP_031186; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23603394}. Cell projection, ruffle membrane {ECO:0000269|PubMed:23603394}. Cleavage furrow {ECO:0000269|PubMed:23603394}. Note=Distributed uniformly on the plasma membrane, as well as throughout the cytoplasm during metaphase. Subsequently concentrated at patches in the equatorial region at the onset of cytokinesis, and becomes distributed in the equatorial region concurrent with cleavage furrow ingression. In later cytokinesis phases, fades away from the cleavage furrow and becomes uniformly distributed throughout the plasma membrane. {ECO:0000269|PubMed:23603394}.


uniprotID: Q8NDX1
geneSymbol: PSD4
length: 1056
go: ENSG00000125637;
snps: rs1562277 rs12472091 rs4849167 rs45487591 rs45574835
name:
PH and SEC7 domain-containing protein 4 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B) (Exchange factor for ARF6 B) (Pleckstrin homology and SEC7 domain-containing protein 4) (Telomeric of interleukin-1 cluster protein)

sequence:

opentargets:
membrane [GO:0016020]; ruffle membrane [GO:0032587]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; phospholipid binding [GO:0005543]; regulation of ARF protein signal transduction [GO:0032012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDX1-1; Sequence=Displayed; Name=2; IsoId=Q8NDX1-2; Sequence=VSP_020772, VSP_020773; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12082148, ECO:0000269|PubMed:23603394}. Cell projection, ruffle membrane {ECO:0000269|PubMed:12082148, ECO:0000269|PubMed:23603394}. Note=In interphase associated with the plasma membrane, in particular with membrane ruffling regions (PubMed:23603394). Accumulates in dynamic actin-rich membrane ruffles and microvilli-like structures (PubMed:12082148). Recruited to membranes via phosphatidylinositol phosphate-binding (Probable). {ECO:0000269|PubMed:12082148, ECO:0000269|PubMed:23603394, ECO:0000305|PubMed:12082148}.


uniprotID: Q9BUL8
geneSymbol: PDCD10
pdb: 3AJM;3L8I;3L8J;3RQE;3RQF;3RQG;3W8H;3W8I;4GEH;4TVQ;
length: 212
go: ENSG00000114209;
snps: rs1129087
name:
Programmed cell death protein 10 (Cerebral cavernous malformations 3 protein) (TF-1 cell apoptosis-related protein 15)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; angiogenesis [GO:0001525]; cellular response to leukemia inhibitory factor [GO:1990830]; establishment of Golgi localization [GO:0051683]; Golgi reassembly [GO:0090168]; intrinsic apoptotic signaling pathway in response to hydrogen peroxide [GO:0036481]; negative regulation of apoptotic process [GO:0043066]; negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903588]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of gene expression [GO:0010629]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of stress-activated MAPK cascade [GO:0032874]; protein stabilization [GO:0050821]; response to hydrogen peroxide [GO:0042542]; wound healing, spreading of cells [GO:0044319]

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Partially co-localizes with endogenous PXN at the leading edges of migrating cells.


uniprotID: Q8N4E4
geneSymbol: PDCL2
pdb: 3EVI;
name: Phosducin-like protein 2
length: 241
go: ENSG00000163440;
sequence:


uniprotID: Q9H2J4
geneSymbol: PDCL3
name: Phosducin-like protein 3 (HTPHLP) (PhPL3) (Viral IAP-associated factor 1) (VIAF-1)
length: 239
go: ENSG00000115539;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15371430}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; protein binding involved in protein folding [GO:0044183]; vascular endothelial growth factor receptor 2 binding [GO:0043184]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation [GO:0001938]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; viral process [GO:0016032]


uniprotID: Q14432
geneSymbol: PDE3A
reactome: R-HSA-418457;R-HSA-418555;
pdb: 1LRC;
length: 1141
go: ENSG00000172572;
drug: DB01223;DB01427;DB00261;DB00201;DB01166;DB04880;DB05266;DB00922;DB00235;DB01303;DB00277;DB08811;
snps: rs12305038 rs794726865 rs794726864 rs794726864 rs794726866 rs794726867 rs794726868
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
cGMP-inhibited 3',5'-cyclic phosphodiesterase A (EC 3.1.4.17) (Cyclic GMP-inhibited phosphodiesterase A) (CGI-PDE A)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cGMP-inhibited cyclic-nucleotide phosphodiesterase activity [GO:0004119]; metal ion binding [GO:0046872]; cAMP-mediated signaling [GO:0019933]; cellular response to cGMP [GO:0071321]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cGMP-mediated signaling [GO:0019934]; G protein-coupled receptor signaling pathway [GO:0007186]; lipid metabolic process [GO:0006629]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of vascular permeability [GO:0043116]; oocyte maturation [GO:0001556]; positive regulation of oocyte development [GO:0060282]; positive regulation of vascular permeability [GO:0043117]; regulation of meiotic nuclear division [GO:0040020]; response to drug [GO:0042493]


uniprotID: Q13370
geneSymbol: PDE3B
reactome: R-HSA-165160;R-HSA-418457;R-HSA-418555;
pdb: 1SO2;1SOJ;
length: 1112
go: ENSG00000152270;
drug: DB07954;DB00201;
snps: rs1056584
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
cGMP-inhibited 3',5'-cyclic phosphodiesterase B (EC 3.1.4.17) (CGIPDE1) (CGIP1) (Cyclic GMP-inhibited phosphodiesterase B) (CGI-PDE B)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; guanyl-nucleotide exchange factor complex [GO:0032045]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; 3',5'-cyclic-nucleotide phosphodiesterase activity [GO:0004114]; cGMP-inhibited cyclic-nucleotide phosphodiesterase activity [GO:0004119]; metal ion binding [GO:0046872]; protein kinase B binding [GO:0043422]; angiogenesis [GO:0001525]; cellular response to insulin stimulus [GO:0032869]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of lipid catabolic process [GO:0050995]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13370-1; Sequence=Displayed; Name=2; IsoId=Q13370-2; Sequence=VSP_054138; Note=No experimental confirmation available.; 


uniprotID: Q9HCR9
geneSymbol: PDE11A
reactome: R-HSA-418457;R-HSA-418555;
length: 933
go: ENSG00000128655;
drug: DB00201;DB00820;
snps: rs75127279 rs61306957
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10906126}.
name:
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (EC 3.1.4.35) (EC 3.1.4.53) (cAMP and cGMP phosphodiesterase 11A)

sequence:

opentargets:
cytosol [GO:0005829]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; 3',5'-cyclic-nucleotide phosphodiesterase activity [GO:0004114]; cGMP binding [GO:0030553]; cGMP-stimulated cyclic-nucleotide phosphodiesterase activity [GO:0004118]; cyclic-nucleotide phosphodiesterase activity [GO:0004112]; metal ion binding [GO:0046872]; G protein-coupled receptor signaling pathway [GO:0007186]; metabolic process [GO:0008152]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=PDE11A4; IsoId=Q9HCR9-1; Sequence=Displayed; Name=2; Synonyms=PDE11A3; IsoId=Q9HCR9-2; Sequence=VSP_019900, VSP_019901; Name=3; Synonyms=PDE11A2; IsoId=Q9HCR9-3; Sequence=VSP_019899; Name=4; Synonyms=PDE11A1; IsoId=Q9HCR9-4; Sequence=VSP_019898; 


uniprotID: Q07343
geneSymbol: PDE4B
reactome: R-HSA-180024;R-HSA-418555;
name: cAMP-specific 3',5'-cyclic phosphodiesterase 4B (EC 3.1.4.53) (DPDE4) (PDE32)
length: 736
go: ENSG00000184588;
snps: rs2227297
pdb:
1F0J;1JP1;1JP2;1RO6;1RO9;1ROR;1TB5;1XLX;1XLZ;1XM4;1XM6;1XMU;1XMY;1XN0;1XOS;1XOT;1Y2H;1Y2J;2CHM;2QYL;3D3P;3FRG;3G45;3GWT;3HC8;3HDZ;3HMV;3KKT;3LY2;3O0J;3O56;3O57;3W5E;3WD9;4KP6;4MYQ;4NW7;4WZI;4X0F;5K6J;5LAQ;5OHJ;6BOJ;

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; gamma-tubulin complex [GO:0000930]; postsynaptic density [GO:0014069]; synaptic vesicle [GO:0008021]; voltage-gated calcium channel complex [GO:0005891]; Z disc [GO:0030018]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; cAMP binding [GO:0030552]; gamma-tubulin binding [GO:0043015]; ion channel binding [GO:0044325]; metal ion binding [GO:0046872]; cAMP catabolic process [GO:0006198]; cellular response to drug [GO:0035690]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to lipopolysaccharide [GO:0071222]; G protein-coupled receptor signaling pathway [GO:0007186]; leukocyte migration [GO:0050900]; negative regulation of relaxation of cardiac muscle [GO:1901898]; neutrophil chemotaxis [GO:0030593]; neutrophil homeostasis [GO:0001780]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-2 production [GO:0032743]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of high voltage-gated calcium channel activity [GO:1901841]; T cell receptor signaling pathway [GO:0050852]

drug:
DB01647;DB04149;DB03606;DB03349;DB00131;DB01427;DB05676;DB00201;DB03849;DB05219;DB00651;DB00824;DB02660;DB05266;DB01088;DB01113;DB00806;DB01791;DB01656;DB01954;DB01412;DB00277;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=PDE4B1; IsoId=Q07343-1; Sequence=Displayed; Name=PDE4B2; IsoId=Q07343-2; Sequence=VSP_004572; Name=PDE4B3; IsoId=Q07343-3; Sequence=VSP_004571; Name=PDE4B5; IsoId=Q07343-4; Sequence=VSP_047723, VSP_047724; Note=Brain-specific isoform.; 


uniprotID: Q08493
geneSymbol: PDE4C
reactome: R-HSA-180024;R-HSA-418555;
pdb: 1LXU;2QYM;
name: cAMP-specific 3',5'-cyclic phosphodiesterase 4C (EC 3.1.4.53) (DPDE1) (PDE21)
length: 712
go: ENSG00000105650;
drug: DB00201;DB05219;DB00651;DB05266;DB01088;DB01791;DB01656;
snps: rs10413646 rs34503849 rs2229228 rs11879710
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
sequence:

opentargets:
cilium [GO:0005929]; cytosol [GO:0005829]; extracellular space [GO:0005615]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; metal ion binding [GO:0046872]; cAMP catabolic process [GO:0006198]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=PDE4C1; IsoId=Q08493-1; Sequence=Displayed; Name=PDE4C2; IsoId=Q08493-2; Sequence=VSP_004575; Name=PDE4C3; IsoId=Q08493-3; Sequence=VSP_004574; Name=PDE4C4; IsoId=Q08493-4; Sequence=Not described; Name=PDE4C5; IsoId=Q08493-5; Sequence=Not described; Name=PDE4C6; IsoId=Q08493-6; Sequence=Not described; Name=PDE4C7; IsoId=Q08493-7; Sequence=Not described; 


uniprotID: P54750
geneSymbol: PDE1A
reactome: R-HSA-111957;R-HSA-418457;R-HSA-418555;
pdb: 1LXQ;
length: 535
go: ENSG00000115252;
drug: DB01244;DB00201;DB01023;DB00622;
name:
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (Cam-PDE 1A) (EC 3.1.4.17) (61 kDa Cam-PDE) (hCam-1)

sequence:

opentargets:
cytosol [GO:0005829]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity [GO:0048101]; calmodulin binding [GO:0005516]; calmodulin-dependent cyclic-nucleotide phosphodiesterase activity [GO:0004117]; metal ion binding [GO:0046872]; cGMP catabolic process [GO:0046069]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of smooth muscle cell apoptotic process [GO:0034391]; regulation of smooth muscle cell proliferation [GO:0048660]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=PDE1A3, PDE1A6; IsoId=P54750-1; Sequence=Displayed; Name=2; Synonyms=PDE1A4, PDE1A5; IsoId=P54750-2; Sequence=VSP_004547; Name=3; Synonyms=PDE1A10; IsoId=P54750-3; Sequence=VSP_004548; Name=4; Synonyms=PDE1A5; IsoId=P54750-4; Sequence=VSP_004549; Name=5; Synonyms=PDE1A9; IsoId=P54750-5; Sequence=VSP_004550; Name=6; Synonyms=PDE1A1; IsoId=P54750-6; Sequence=VSP_004547, VSP_004549; Name=7; Synonyms=PDE1A8; IsoId=P54750-7; Sequence=VSP_004547, VSP_004550; Name=8; Synonyms=PDE1A11; IsoId=P54750-8; Sequence=VSP_004548, VSP_004549; Name=9; Synonyms=PDE1A12; IsoId=P54750-9; Sequence=VSP_004548, VSP_004550; 


uniprotID: Q08499
geneSymbol: PDE4D
reactome: R-HSA-180024;R-HSA-418555;
name: cAMP-specific 3',5'-cyclic phosphodiesterase 4D (EC 3.1.4.53) (DPDE3) (PDE43)
length: 809
go: ENSG00000113448;
snps: rs397514466 rs397514464 rs397514465 rs397514468 rs397515433 rs397514467 rs397514469 rs587777188
pdb:
1E9K;1MKD;1OYN;1PTW;1Q9M;1TB7;1TBB;1XOM;1XON;1XOQ;1XOR;1Y2B;1Y2C;1Y2D;1Y2E;1Y2K;1ZKN;2FM0;2FM5;2PW3;2QYN;3G4G;3G4I;3G4K;3G4L;3G58;3IAD;3IAK;3K4S;3SL3;3SL4;3SL5;3SL6;3SL8;3V9B;4OGB;4W1O;4WCU;5K1I;5K32;5LBO;5TKB;5WH5;5WH6;5WQA;6BOJ;6F6U;6F8R;6F8T;6F8U;6F8V;6F8W;6F8X;6FDC;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; calcium channel complex [GO:0034704]; centrosome [GO:0005813]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-nucleotide phosphodiesterase activity [GO:0004114]; ATPase binding [GO:0051117]; beta-2 adrenergic receptor binding [GO:0031698]; cAMP binding [GO:0030552]; drug binding [GO:0008144]; enzyme binding [GO:0019899]; ion channel binding [GO:0044325]; metal ion binding [GO:0046872]; scaffold protein binding [GO:0097110]; ubiquitin protein ligase binding [GO:0031625]; adenylate cyclase-activating adrenergic receptor signaling pathway involved in positive regulation of heart rate [GO:0086024]; adrenergic receptor signaling pathway [GO:0071875]; aging [GO:0007568]; cAMP catabolic process [GO:0006198]; cAMP-mediated signaling [GO:0019933]; cellular response to cAMP [GO:0071320]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to lipopolysaccharide [GO:0071222]; establishment of endothelial barrier [GO:0061028]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism growth [GO:0035264]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of heart contraction [GO:0045822]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of relaxation of cardiac muscle [GO:1901898]; neutrophil chemotaxis [GO:0030593]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of interleukin-5 production [GO:0032754]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of heart rate [GO:0002027]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of signaling receptor activity [GO:0010469]; smooth muscle contraction [GO:0006939]; T cell receptor signaling pathway [GO:0050852]

drug:
DB06842;DB04149;DB03606;DB07954;DB02918;DB00131;DB05676;DB00201;DB03849;DB05219;DB00651;DB05266;DB01088;DB05298;DB01791;DB01656;DB01954;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=4; Synonyms=hPDE4D4; IsoId=Q08499-1; Sequence=Displayed; Name=3; Synonyms=hPDE4D3; IsoId=Q08499-2; Sequence=VSP_004577; Note=Activated by phosphorylation at Ser-53. Mutagenesis of Ser-53 abolishes activation. {ECO:0000269|PubMed:15131123}; Name=10; IsoId=Q08499-3; Sequence=VSP_004578; Name=1; Synonyms=hPDE4D1; IsoId=Q08499-4; Sequence=VSP_004579; Name=2; Synonyms=hPDE4D2; IsoId=Q08499-5; Sequence=VSP_004580; Name=5; Synonyms=hPDE4D5; IsoId=Q08499-6; Sequence=VSP_012384; Name=N3; Synonyms=PDE4DN3; IsoId=Q08499-7; Sequence=VSP_012384, VSP_012391, VSP_012392; Name=6; Synonyms=PDE4D6; IsoId=Q08499-8; Sequence=VSP_012383, VSP_012393; Name=8; Synonyms=PDE4D8; IsoId=Q08499-9; Sequence=VSP_012386, VSP_012389; Name=9; Synonyms=PDE4D9; IsoId=Q08499-10; Sequence=VSP_012385, VSP_012390; Name=7; Synonyms=PDE4D7; IsoId=Q08499-11; Sequence=VSP_012387, VSP_012388; Name=12; IsoId=Q08499-12; Sequence=VSP_012384, VSP_023326, VSP_023327; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:14500724}. Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Found in the soluble fraction, associated with membranes, and associated with the cytoskeleton and the centrosome (By similarity). Colocalized with SHANK2 to the apical membrane of colonic crypt cells. {ECO:0000250}.


uniprotID: Q14123
geneSymbol: PDE1C
reactome: R-HSA-111957;
pdb: 1LXS;
length: 709
go: ENSG00000154678;
drug: DB00201;
name:
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C (Cam-PDE 1C) (EC 3.1.4.17) (hCam-3)

sequence:

opentargets:
cytosol [GO:0005829]; calmodulin binding [GO:0005516]; calmodulin-dependent cyclic-nucleotide phosphodiesterase activity [GO:0004117]; metal ion binding [GO:0046872]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=PDE1C2; Synonyms=HCam-3A; IsoId=Q14123-1; Sequence=Displayed; Name=PDE1C1; Synonyms=HCam-3B; IsoId=Q14123-2; Sequence=VSP_004552, VSP_004553; Name=3; IsoId=Q14123-3; Sequence=VSP_044468; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O76074
geneSymbol: PDE5A
reactome: R-HSA-418457;
length: 875
go: ENSG00000138735;
snps: rs3733526 rs17051276
pdb:
1RKP;1T9R;1T9S;1TBF;1UDT;1UDU;1UHO;1XOZ;1XP0;2CHM;2H40;2H42;2H44;2XSS;3B2R;3BJC;3HC8;3HDZ;3JWQ;3JWR;3LFV;3MF0;3SHY;3SHZ;3SIE;3TGE;3TGG;4G2W;4G2Y;4I9Z;4IA0;4MD6;4OEW;4OEX;5JO3;5ZZ2;6ACB;

name:
cGMP-specific 3',5'-cyclic phosphodiesterase (EC 3.1.4.35) (cGMP-binding cGMP-specific phosphodiesterase) (CGB-PDE)

sequence:

opentargets:
cytosol [GO:0005829]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; 3',5'-cyclic-nucleotide phosphodiesterase activity [GO:0004114]; cGMP binding [GO:0030553]; metal ion binding [GO:0046872]; cGMP catabolic process [GO:0046069]; negative regulation of cardiac muscle contraction [GO:0055118]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of oocyte development [GO:0060282]; regulation of nitric oxide mediated signal transduction [GO:0010749]; relaxation of cardiac muscle [GO:0055119]; signal transduction [GO:0007165]

drug:
DB07954;DB06237;DB00201;DB04272;DB00975;DB03597;DB01972;DB05415;DB00806;DB00203;DB00820;DB00277;DB06267;DB00862;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=PDE5A1; IsoId=O76074-1; Sequence=Displayed; Name=PDE5A2; IsoId=O76074-2; Sequence=VSP_004591; 


uniprotID: O60658
geneSymbol: PDE8A
reactome: R-HSA-418555;
pdb: 1LHQ;1LXX;3ECM;3ECN;
name: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A (EC 3.1.4.53)
length: 829
go: ENSG00000073417;
drug: DB07954;DB00201;
snps: rs17855018
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; cAMP catabolic process [GO:0006198]; cellular response to epidermal growth factor stimulus [GO:0071364]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of cell death [GO:0060548]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein phosphorylation [GO:0001934]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=PDE8A1; IsoId=O60658-1; Sequence=Displayed; Name=2; Synonyms=PDE8A2; IsoId=O60658-2; Sequence=VSP_004597; Name=3; Synonyms=PDE8A3; IsoId=O60658-3; Sequence=VSP_041675, VSP_041677; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=4; Synonyms=PDE8A4; IsoId=O60658-4; Sequence=VSP_041674, VSP_041676; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; Synonyms=PDE8A5; IsoId=O60658-5; Sequence=VSP_041678, VSP_041679; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=6; IsoId=O60658-6; Sequence=VSP_046017; Note=No experimental confirmation available.; 


uniprotID: P13667
geneSymbol: PDIA4
pdb: 3IDV;
length: 645
go: ENSG00000155660;
snps: rs2290971
name:
Protein disulfide-isomerase A4 (EC 5.3.4.1) (Endoplasmic reticulum resident protein 70) (ER protein 70) (ERp70) (Endoplasmic reticulum resident protein 72) (ER protein 72) (ERp-72) (ERp72)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; melanosome [GO:0042470]; peptide disulfide oxidoreductase activity [GO:0015037]; protein disulfide isomerase activity [GO:0003756]; RNA binding [GO:0003723]; cell redox homeostasis [GO:0045454]; chaperone-mediated protein folding [GO:0061077]; protein folding [GO:0006457]; protein secretion [GO:0009306]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:12643545}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000269|PubMed:17081065}.


uniprotID: Q14554
geneSymbol: PDIA5
reactome: R-HSA-381038;
pdb: 4I6X;
name: Protein disulfide-isomerase A5 (EC 5.3.4.1) (Protein disulfide isomerase-related protein)
length: 519
go: ENSG00000065485;
snps: rs2292661
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; oxidoreductase activity [GO:0016491]; peptide disulfide oxidoreductase activity [GO:0015037]; protein disulfide isomerase activity [GO:0003756]; cell redox homeostasis [GO:0045454]; IRE1-mediated unfolded protein response [GO:0036498]; oxidation-reduction process [GO:0055114]; protein folding [GO:0006457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14554-1; Sequence=Displayed; Name=2; IsoId=Q14554-2; Sequence=VSP_056536, VSP_056537; Note=No experimental confirmation available.; 


uniprotID: Q9NRA1
geneSymbol: PDGFC
reactome: R-HSA-186797;
length: 345
go: ENSG00000145431;
name:
Platelet-derived growth factor C (PDGF-C) (Fallotein) (Spinal cord-derived growth factor) (SCDGF) (VEGF-E) [Cleaved into: Platelet-derived growth factor C, latent form (PDGFC latent form); Platelet-derived growth factor C, receptor-binding form (PDGFC receptor-binding form)]

sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; growth factor activity [GO:0008083]; platelet-derived growth factor receptor binding [GO:0005161]; protein homodimerization activity [GO:0042803]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; animal organ morphogenesis [GO:0009887]; bone development [GO:0060348]; cellular response to amino acid stimulus [GO:0071230]; central nervous system development [GO:0007417]; digestive tract development [GO:0048565]; embryonic organ development [GO:0048568]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cell division [GO:0051781]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein autophosphorylation [GO:0031954]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NRA1-1; Sequence=Displayed; Name=2; IsoId=Q9NRA1-2; Sequence=VSP_034703; Note=No experimental confirmation available.; Name=3; IsoId=Q9NRA1-3; Sequence=VSP_034701, VSP_034702; Note=No experimental confirmation available.; Name=4; IsoId=Q9NRA1-4; Sequence=VSP_047606; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16443219}. Secreted {ECO:0000269|PubMed:10806482, ECO:0000269|PubMed:10858496, ECO:0000269|PubMed:11297552, ECO:0000269|PubMed:15061151, ECO:0000269|PubMed:15372073, ECO:0000269|PubMed:15911618}. Nucleus {ECO:0000269|PubMed:16443219}. Cytoplasmic granule {ECO:0000269|PubMed:15061151}. Cell membrane {ECO:0000269|PubMed:16443219}. Note=Sumoylated form is predominant in the nucleus (PubMed:15247255). Stored in alpha granules in platelets (PubMed:15061151). {ECO:0000269|PubMed:16443219}.


uniprotID: Q15118
geneSymbol: PDK1
reactome: R-HSA-204174;R-HSA-5362517;
pdb: 2Q8F;2Q8G;2Q8H;
length: 436
go: ENSG00000152256;
drug: DB08809;
snps: rs35661499 rs34250425
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:22195962}.
name:
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 1) (PDH kinase 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial pyruvate dehydrogenase complex [GO:0005967]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; pyruvate dehydrogenase (acetyl-transferring) kinase activity [GO:0004740]; cell proliferation [GO:0008283]; glucose metabolic process [GO:0006006]; hypoxia-inducible factor-1alpha signaling pathway [GO:0097411]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; regulation of acetyl-CoA biosynthetic process from pyruvate [GO:0010510]; regulation of glucose metabolic process [GO:0010906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15118-1; Sequence=Displayed; Name=2; IsoId=Q15118-2; Sequence=VSP_055172; 


uniprotID: Q15119
geneSymbol: PDK2
reactome: R-HSA-204174;R-HSA-5362517;
pdb: 2BTZ;2BU2;2BU5;2BU6;2BU7;2BU8;4MP2;4MP7;4MPC;4MPE;4MPN;4V25;4V26;5J6A;5J71;5M4K;5M4M;5M4N;5M4P;
length: 407
go: ENSG00000005882;
drug: DB08610;
snps: rs17855787
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 2) (PDH kinase 2) (PDKII)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrial pyruvate dehydrogenase complex [GO:0005967]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; pyruvate dehydrogenase (acetyl-transferring) kinase activity [GO:0004740]; cellular response to nutrient [GO:0031670]; cellular response to reactive oxygen species [GO:0034614]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; insulin receptor signaling pathway [GO:0008286]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; regulation of acetyl-CoA biosynthetic process from pyruvate [GO:0010510]; regulation of calcium-mediated signaling [GO:0050848]; regulation of cellular ketone metabolic process [GO:0010565]; regulation of gluconeogenesis [GO:0006111]; regulation of glucose metabolic process [GO:0010906]; regulation of pH [GO:0006885]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15119-1; Sequence=Displayed; Name=2; IsoId=Q15119-2; Sequence=VSP_042549; Note=No experimental confirmation available.; 


uniprotID: Q16654
geneSymbol: PDK4
reactome: R-HSA-204174;R-HSA-5362517;
pdb: 2E0A;2ZDX;2ZDY;2ZKJ;3D2R;
length: 411
go: ENSG00000004799;
snps: rs56391840 rs55761955 rs34898343
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial (EC 2.7.11.2) (Pyruvate dehydrogenase kinase isoform 4)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; pyruvate dehydrogenase (acetyl-transferring) kinase activity [GO:0004740]; cellular response to fatty acid [GO:0071398]; cellular response to starvation [GO:0009267]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; insulin receptor signaling pathway [GO:0008286]; negative regulation of anoikis [GO:2000811]; reactive oxygen species metabolic process [GO:0072593]; regulation of acetyl-CoA biosynthetic process from pyruvate [GO:0010510]; regulation of bone resorption [GO:0045124]; regulation of cellular ketone metabolic process [GO:0010565]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of fatty acid oxidation [GO:0046320]; regulation of glucose metabolic process [GO:0010906]; regulation of pH [GO:0006885]; response to starvation [GO:0042594]


uniprotID: Q9NUG6
geneSymbol: PDRG1
name: p53 and DNA damage-regulated protein 1
length: 133
go: ENSG00000088356;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:
MLSPEAERVLRYLVEVEELAEEVLADKRQIVDLDTKRNQNREGLRALQKDLSLSEDVMVCFGNMFIKMPHPETKEMIEKDQDHLDKEIEKLRKQLKVKVNRLFEAQGKPELKGFNLNPLNQDELKALKVILKG

opentargets:
cytoplasm [GO:0005737]; prefoldin complex [GO:0016272]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q53GG5
geneSymbol: PDLIM3
length: 364
go: ENSG00000154553;
snps: rs11944325
name:
PDZ and LIM domain protein 3 (Actinin-associated LIM protein) (Alpha-actinin-2-associated LIM protein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Z disc [GO:0030018]; cytoskeletal protein binding [GO:0008092]; metal ion binding [GO:0046872]; structural constituent of muscle [GO:0008307]; actin filament organization [GO:0007015]; heart development [GO:0007507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ALP-SK; IsoId=Q53GG5-1; Sequence=Displayed; Name=2; Synonyms=ALP-H; IsoId=Q53GG5-2; Sequence=VSP_016501; Name=3; IsoId=Q53GG5-3; Sequence=VSP_016500, VSP_016502; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:10063829}. Note=Localizes to myofiber Z-lines.


uniprotID: Q6A1A2
geneSymbol: PDPK2P
length: 396
name:
Putative 3-phosphoinositide-dependent protein kinase 2 (EC 2.7.11.1) (3-phosphoinositide-dependent protein kinase 2 pseudogene)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q86YL7
geneSymbol: PDPN
reactome: R-HSA-114604;
pdb: 3WSR;4YO0;5XCV;
length: 162
go: ENSG00000162493;
snps: rs2486188 rs2486188
name:
Podoplanin (Aggrus) (Glycoprotein 36) (Gp36) (PA2.26 antigen) (T1-alpha) (T1A) [Cleaved into: 29kDa cytosolic podoplanin intracellular domain (PICD)]

sequence:
MWKVSALLFVLGSASLWVLAEGASTGQPEDDTETTGLEGGVAMPGAEDDVVTPGTSEDRYKSGLTTLVATSVNSVTGIRIEDLPTSESTVHAQEQSPSATASNVATSHSTEKVDGDTQTTVEKDGLSTVTLVGIIVGVLLAIGFIGAIIVVVMRKMSGRYSP

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cell projection [GO:0042995]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; filopodium [GO:0030175]; filopodium membrane [GO:0031527]; integral component of plasma membrane [GO:0005887]; invadopodium [GO:0071437]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; leading edge of lamellipodium [GO:0061851]; membrane [GO:0016020]; membrane raft [GO:0045121]; microvillus membrane [GO:0031528]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; tetraspanin-enriched microdomain [GO:0097197]; chaperone binding [GO:0051087]; chemokine binding [GO:0019956]; signaling receptor binding [GO:0005102]; actin-mediated cell contraction [GO:0070252]; amino acid transmembrane transport [GO:0003333]; cell morphogenesis [GO:0000902]; folic acid transport [GO:0015884]; invadopodium organization [GO:1905863]; lung development [GO:0030324]; lymph node development [GO:0048535]; lymphangiogenesis [GO:0001946]; lymphatic endothelial cell fate commitment [GO:0060838]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; platelet activation [GO:0030168]; positive regulation of cell migration [GO:0030335]; positive regulation of cellular component movement [GO:0051272]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of extracellular matrix disassembly [GO:0090091]; positive regulation of platelet aggregation [GO:1901731]; regulation of cell shape [GO:0008360]; regulation of lamellipodium morphogenesis [GO:2000392]; regulation of myofibroblast contraction [GO:1904328]; regulation of substrate adhesion-dependent cell spreading [GO:1900024]; Rho protein signal transduction [GO:0007266]; water transport [GO:0006833]; wound healing, spreading of cells [GO:0044319]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1 {ECO:0000269|PubMed:9651190}; Synonyms=hT1alpha-2 {ECO:0000303|PubMed:9651190}; IsoId=Q86YL7-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9651190}; Synonyms=hT1alpha-1 {ECO:0000303|PubMed:9651190}; IsoId=Q86YL7-2; Sequence=VSP_051949, VSP_051950, VSP_051951; Name=3; IsoId=Q86YL7-3; Sequence=VSP_035753; Name=4; IsoId=Q86YL7-4; Sequence=VSP_035753, VSP_035754; Name=5; IsoId=Q86YL7-5; Sequence=VSP_046799, VSP_046800; Note=No experimental confirmation available.; Name=6; IsoId=Q86YL7-6; Sequence=VSP_046799; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Podoplanin: Membrane {ECO:0000269|PubMed:17046996, ECO:0000269|PubMed:20962267, ECO:0000305|PubMed:18215137}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q62011}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:17046996, ECO:0000269|PubMed:20962267}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q62011}. Cell projection, filopodium membrane {ECO:0000269|PubMed:17046996}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q62011}. Cell projection, microvillus membrane {ECO:0000269|PubMed:17046996}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q62011}. Cell projection, ruffle membrane {ECO:0000269|PubMed:17046996}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q62011}. Membrane raft {ECO:0000269|PubMed:21376833}. Apical cell membrane {ECO:0000269|PubMed:20962267}. Basolateral cell membrane {ECO:0000269|PubMed:14978162}. Cell projection, invadopodium {ECO:0000269|PubMed:25486435}. Note=Localized to actin-rich microvilli and plasma membrane projections such as filopodia, lamellipodia and ruffles (By similarity). Association to the lipid rafts is required for PDPN-induced epithelial to mesenchymal transition (EMT) (PubMed:21376833). Colocalizes with CD9 in tetraspanin microdomains (PubMed:18541721). Localized at invadopodium adhesion rings in tumor cell. Association to the lipid rafts is essential for PDPN recruitment to invadopodia and ECM degradation (PubMed:25486435). {ECO:0000250|UniProtKB:Q62011, ECO:0000269|PubMed:18541721, ECO:0000269|PubMed:21376833, ECO:0000269|PubMed:25486435}.; SUBCELLULAR LOCATION: 29kDa cytosolic podoplanin intracellular domain: Cytoplasm, cytosol {ECO:0000269|PubMed:24275092}.


uniprotID: Q9NTI5
geneSymbol: PDS5B
reactome: R-HSA-2467813;R-HSA-2468052;R-HSA-2470946;R-HSA-2500257;
pdb: 5HDT;
length: 1447
go: ENSG00000083642;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6TRW4}.
name:
Sister chromatid cohesion protein PDS5 homolog B (Androgen-induced proliferation inhibitor) (Androgen-induced prostate proliferative shutoff-associated protein AS3)

sequence:

opentargets:
chromatin [GO:0000785]; chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; cell division [GO:0051301]; cell proliferation [GO:0008283]; DNA repair [GO:0006281]; enteric nervous system development [GO:0048484]; lens development in camera-type eye [GO:0002088]; mitotic sister chromatid cohesion [GO:0007064]; negative regulation of cell proliferation [GO:0008285]; neuroblast migration [GO:0097402]; regulation of cell proliferation [GO:0042127]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:10231032}; IsoId=Q9NTI5-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10215036}; IsoId=Q9NTI5-2; Sequence=VSP_052402; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q9NTI5-3; Sequence=VSP_052399, VSP_052400; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:15489334}; IsoId=Q9NTI5-4; Sequence=VSP_052397, VSP_052398; Note=No experimental confirmation available. {ECO:0000305}; Name=5 {ECO:0000269|PubMed:14702039}; IsoId=Q9NTI5-5; Sequence=VSP_052396, VSP_052401; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q6P474
geneSymbol: PDXDC2P
length: 469
snps: rs3169319 rs11648231 rs929843
name:
Putative pyridoxal-dependent decarboxylase domain-containing protein 2 (EC 4.1.1.-) (pyridoxal-dependent decarboxylase domain-containing 2 pseudogene)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; carboxy-lyase activity [GO:0016831]; pyridoxal phosphate binding [GO:0030170]; sphinganine-1-phosphate aldolase activity [GO:0008117]; ameboidal-type cell migration [GO:0001667]; carboxylic acid metabolic process [GO:0019752]; sphingolipid catabolic process [GO:0030149]; sphingolipid metabolic process [GO:0006665]


uniprotID: P51665
geneSymbol: PSMD7
length: 324
go: ENSG00000103035;
pdb:
2O95;2O96;5GJQ;5GJR;5L4K;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;5VGZ;5VHF;5VHH;5VHI;5VHS;

name:
26S proteasome non-ATPase regulatory subunit 7 (26S proteasome regulatory subunit RPN8) (26S proteasome regulatory subunit S12) (Mov34 protein homolog) (Proteasome subunit p40)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome regulatory particle [GO:0005838]; secretory granule lumen [GO:0034774]; protein homodimerization activity [GO:0042803]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]


uniprotID: O00233
geneSymbol: PSMD9
name: 26S proteasome non-ATPase regulatory subunit 9 (26S proteasome regulatory subunit p27)
length: 223
go: ENSG00000110801;
snps: rs2230681 rs2291116 rs1177573 rs14259
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome regulatory particle [GO:0005838]; proteasome regulatory particle, base subcomplex [GO:0008540]; bHLH transcription factor binding [GO:0043425]; transcription coactivator activity [GO:0003713]; negative regulation of insulin secretion [GO:0046676]; positive regulation of insulin secretion [GO:0032024]; positive regulation of transcription, DNA-templated [GO:0045893]; post-translational protein modification [GO:0043687]; proteasome regulatory particle assembly [GO:0070682]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=p27-L; IsoId=O00233-1; Sequence=Displayed; Name=p27-S; IsoId=O00233-2; Sequence=VSP_005300; Name=3; IsoId=O00233-3; Sequence=VSP_046004; Note=No experimental confirmation available.; 


uniprotID: P07988
geneSymbol: SFTPB
reactome: R-HSA-5683826;R-HSA-5688031;R-HSA-5688354;R-HSA-5688849;R-HSA-5688890;
pdb: 1DFW;1KMR;1RG3;1RG4;1SSZ;2DWF;2JOU;2M0H;2M1T;
length: 381
go: ENSG00000168878;
snps: rs1130866 rs3024801 rs137853202 rs3024809
location: SUBCELLULAR LOCATION: Secreted, extracellular space, surface film.
name:
Pulmonary surfactant-associated protein B (SP-B) (18 kDa pulmonary-surfactant protein) (6 kDa protein) (Pulmonary surfactant-associated proteolipid SPL(Phe))

sequence:

opentargets:
alveolar lamellar body [GO:0097208]; clathrin-coated endocytic vesicle [GO:0045334]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lamellar body [GO:0042599]; lysosome [GO:0005764]; multivesicular body [GO:0005771]; multivesicular body lumen [GO:0097486]; nucleoplasm [GO:0005654]; animal organ morphogenesis [GO:0009887]; cellular protein metabolic process [GO:0044267]; respiratory gaseous exchange [GO:0007585]; sphingolipid metabolic process [GO:0006665]


uniprotID: O00764
geneSymbol: PDXK
reactome: R-HSA-6798695;R-HSA-964975;
pdb: 2AJP;2F7K;2YXT;2YXU;3FHX;3FHY;3KEU;4EN4;4EOH;
name: Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase)
length: 312
go: ENSG00000160209;
drug: DB04776;DB00147;DB00165;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; specific granule lumen [GO:0035580]; ATP binding [GO:0005524]; lithium ion binding [GO:0031403]; magnesium ion binding [GO:0000287]; potassium ion binding [GO:0030955]; protein homodimerization activity [GO:0042803]; pyridoxal kinase activity [GO:0008478]; pyridoxal phosphate binding [GO:0030170]; sodium ion binding [GO:0031402]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; neutrophil degranulation [GO:0043312]; pyridoxal 5'-phosphate salvage [GO:0009443]; pyridoxal phosphate biosynthetic process [GO:0042823]; vitamin B6 metabolic process [GO:0042816]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00764-1; Sequence=Displayed; Name=2; IsoId=O00764-2; Sequence=VSP_004653; Note=No experimental confirmation available.; Name=3; Synonyms=PKH-T; IsoId=O00764-3; Sequence=VSP_010671; 


uniprotID: Q6PGN9
geneSymbol: PSRC1
name: Proline/serine-rich coiled-coil protein 1
length: 363
go: ENSG00000134222;
snps: rs34863121
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; spindle [GO:0005819]; spindle pole [GO:0000922]; microtubule binding [GO:0008017]; cell division [GO:0051301]; microtubule bundle formation [GO:0001578]; mitotic metaphase plate congression [GO:0007080]; negative regulation of cell growth [GO:0030308]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of mitotic spindle organization [GO:0060236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=C; IsoId=Q6PGN9-1; Sequence=Displayed; Name=A; IsoId=Q6PGN9-2; Sequence=VSP_022591; Name=B; IsoId=Q6PGN9-3; Sequence=VSP_022592, VSP_022593; Name=D; IsoId=Q6PGN9-4; Sequence=VSP_022602, VSP_022591; Note=No experimental confirmation available. {ECO:0000244|PubMed:16964243, ECO:0000244|PubMed:20068231}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Detected at the mitotic spindle and spindle poles. Diffusely distributed throughout the cell during interphase.


uniprotID: Q5EBL8
geneSymbol: PDZD11
reactome: R-HSA-196780;R-HSA-199220;R-HSA-425397;R-HSA-6803544;R-HSA-936837;
length: 140
go: ENSG00000120509;
name:
PDZ domain-containing protein 11 (ATPase-interacting PDZ protein) (Plasma membrane calcium ATPase-interacting single-PDZ protein) (PMCA-interacting single-PDZ protein)

sequence:
MDSRIPYDDYPVVFLPAYENPPAWIPPHERVHHPDYNNELTQFLPRTITLKKPPGAQLGFNIRGGKASQLGIFISKVIPDSDAHRAGLQEGDQVLAVNDVDFQDIEHSKAVEILKTAREISMRVRFFPYNYHRQKERTVH

opentargets:
basolateral plasma membrane [GO:0016323]; cell-cell junction [GO:0005911]; cytosol [GO:0005829]; extracellular region [GO:0005576]; presynapse [GO:0098793]; synapse [GO:0045202]; protein C-terminus binding [GO:0008022]; neurotransmitter secretion [GO:0007269]; protein localization to basolateral plasma membrane [GO:1903361]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AIPP1a; IsoId=Q5EBL8-1; Sequence=Displayed; Name=2; Synonyms=AIPP1b; IsoId=Q5EBL8-2; Sequence=VSP_015077; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:12763866}.


uniprotID: Q15121
geneSymbol: PEA15
reactome: R-HSA-112409;R-HSA-5673001;
pdb: 4IZ5;4IZA;
length: 130
go: ENSG00000162734;
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with microtubules.
name:
Astrocytic phosphoprotein PEA-15 (15 kDa phosphoprotein enriched in astrocytes) (Phosphoprotein enriched in diabetes) (PED)

sequence:
MAEYGTLLQDLTNNITLEDLEQLKSACKEDIPSEKSEEITTGSAWFSFLESHNKLDKDNLSYIEHIFEISRRPDLLTMVVDYRTRVLKISEEDELDTKLTRIPSAKKYKDIIRQPSEEEIIKLAPPPKKA

opentargets:
cytosol [GO:0005829]; microtubule associated complex [GO:0005875]; nucleus [GO:0005634]; activation of MAPK activity [GO:0000187]; apoptotic process [GO:0006915]; carbohydrate transport [GO:0008643]; DNA damage checkpoint [GO:0000077]; MAPK cascade [GO:0000165]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of glucose import [GO:0046325]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; response to morphine [GO:0043278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15121-1; Sequence=Displayed; Name=2; IsoId=Q15121-2; Sequence=VSP_056174; Note=No experimental confirmation available.; 


uniprotID: Q8NEN9
geneSymbol: PDZD8
name: PDZ domain-containing protein 8 (Sarcoma antigen NY-SAR-84/NY-SAR-104)
length: 1154
go: ENSG00000165650;
snps: rs35664484 rs363294
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; Mitochondria-associated ER Membrane [GO:0044233]; mitochondrion [GO:0005739]; lipid binding [GO:0008289]; metal ion binding [GO:0046872]; cytoskeleton organization [GO:0007010]; intracellular signal transduction [GO:0035556]; lipid transport [GO:0006869]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrion-endoplasmic reticulum membrane tethering [GO:1990456]; regulation of cell morphogenesis [GO:0022604]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:29097544}; Single-pass membrane protein {ECO:0000255}. Note=Localizes at mitochondria-endoplasmic reticulum contact sites. {ECO:0000269|PubMed:29097544}.


uniprotID: Q8IXQ8
geneSymbol: PDZD9
name: PDZ domain-containing protein 9
length: 264
go: ENSG00000155714;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IXQ8-1; Sequence=Displayed; Name=2; IsoId=Q8IXQ8-2; Sequence=VSP_022286, VSP_022287; Note=No experimental confirmation available.; Name=3; IsoId=Q8IXQ8-3; Sequence=VSP_053798; Note=No experimental confirmation available.; 


uniprotID: Q9H792
geneSymbol: PEAK1
pdb: 6BHC;
length: 1746
go: ENSG00000173517;
name:
Inactive tyrosine-protein kinase PEAK1 (Pseudopodium-enriched atypical kinase 1) (Sugen kinase 269) (Tyrosine-protein kinase SgK269)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; identical protein binding [GO:0042802]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein kinase activity [GO:0004672]; cell migration [GO:0016477]; focal adhesion assembly [GO:0048041]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of focal adhesion assembly [GO:0051893]; substrate adhesion-dependent cell spreading [GO:0034446]

snps:
rs35459975 rs56129428 rs35335169 rs34885462 rs56388121 rs12909704 rs56133554 rs56079860 rs1867780 rs34004337 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20534451, ECO:0000269|PubMed:23105102}. Cell junction, focal adhesion {ECO:0000269|PubMed:20534451, ECO:0000269|PubMed:23105102}. Note=Colocalizes with F-actin in serum-rich medium (PubMed:20534451). Actin colocalization is reduced during serum starvation (PubMed:20534451). {ECO:0000269|PubMed:20534451}.


uniprotID: P16284
geneSymbol: PECAM1
reactome: R-HSA-114608;R-HSA-202733;R-HSA-210990;R-HSA-216083;R-HSA-432142;R-HSA-6798695;
pdb: 2KY5;5C14;5GNI;
name: Platelet endothelial cell adhesion molecule (PECAM-1) (EndoCAM) (GPIIA') (PECA1) (CD antigen CD31)
length: 738
go: ENSG00000261371;
snps: rs281865545 rs7209607 rs12953 rs12953 rs1131012
sequence:

opentargets:
cell-cell contact zone [GO:0044291]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; secretory granule membrane [GO:0030667]; smooth muscle contractile fiber [GO:0030485]; protein homodimerization activity [GO:0042803]; angiogenesis [GO:0001525]; cell recognition [GO:0008037]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; diapedesis [GO:0050904]; endothelial cell migration [GO:0043542]; endothelial cell morphogenesis [GO:0001886]; endothelial cell-matrix adhesion [GO:0090673]; extracellular matrix organization [GO:0030198]; glomerular endothelium development [GO:0072011]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]; neutrophil extravasation [GO:0072672]; phagocytosis [GO:0006909]; platelet degranulation [GO:0002576]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of cell migration [GO:0030334]; Rho protein signal transduction [GO:0007266]; signal transduction [GO:0007165]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=Long; IsoId=P16284-1; Sequence=Displayed; Name=Delta12; IsoId=P16284-2; Sequence=VSP_011806; Name=Delta13; IsoId=P16284-3; Sequence=VSP_011807; Name=Delta14; IsoId=P16284-4; Sequence=VSP_011809; Name=Delta14-15; IsoId=P16284-5; Sequence=VSP_011808, VSP_011811; Name=Delta15; IsoId=P16284-6; Sequence=VSP_011810, VSP_011811; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17580308}; Single-pass type I membrane protein {ECO:0000305}. Note=Cell surface expression on neutrophils is down-regulated upon fMLP or CXCL8/IL8-mediated stimulation. {ECO:0000269|PubMed:17580308}.; SUBCELLULAR LOCATION: Isoform Long: Cell membrane {ECO:0000269|PubMed:18388311, ECO:0000269|PubMed:19342684}; Single-pass type I membrane protein {ECO:0000305|PubMed:18388311}. Membrane raft {ECO:0000269|PubMed:17139370, ECO:0000269|PubMed:22496122}. Cell junction {ECO:0000269|PubMed:18388311}. Note=Localizes to the lateral border recycling compartment (LBRC) and recycles from the LBRC to the junction in resting endothelial cells. {ECO:0000269|PubMed:19342684}.; SUBCELLULAR LOCATION: Isoform Delta15: Cell junction {ECO:0000269|PubMed:18388311}. Note=Localizes to the lateral border recycling compartment (LBRC) and recycles from the LBRC to the junction in resting endothelial cells.


uniprotID: P36955
geneSymbol: SERPINF1
pdb: 1IMV;
length: 418
go: ENSG00000132386;
snps: rs1136287 rs1804145
name:
Pigment epithelium-derived factor (PEDF) (Cell proliferation-inducing gene 35 protein) (EPC-1) (Serpin F1)

sequence:

opentargets:
axon hillock [GO:0043203]; basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; melanosome [GO:0042470]; perinuclear region of cytoplasm [GO:0048471]; serine-type endopeptidase inhibitor activity [GO:0004867]; aging [GO:0007568]; cell proliferation [GO:0008283]; cellular response to cobalt ion [GO:0071279]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucose stimulus [GO:0071333]; cellular response to retinoic acid [GO:0071300]; kidney development [GO:0001822]; multicellular organism development [GO:0007275]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of epithelial cell proliferation involved in prostate gland development [GO:0060770]; negative regulation of gene expression [GO:0010629]; negative regulation of inflammatory response [GO:0050728]; negative regulation of neuron death [GO:1901215]; ovulation cycle [GO:0042698]; positive regulation of neurogenesis [GO:0050769]; positive regulation of neuron projection development [GO:0010976]; response to acidic pH [GO:0010447]; response to arsenic-containing substance [GO:0046685]; retina development in camera-type eye [GO:0060041]; short-term memory [GO:0007614]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Enriched in stage I melanosomes.


uniprotID: Q86TG7
geneSymbol: PEG10
length: 708
go: ENSG00000242265;
name:
Retrotransposon-derived protein PEG10 (Embryonal carcinoma differentiation-regulated protein) (Mammalian retrotransposon-derived protein 2) (Myelin expression factor 3-like protein 1) (MEF3-like protein 1) (Paternally expressed gene 10 protein) (Retrotransposon gag domain-containing protein 3) (Retrotransposon-derived gag-like polyprotein) (Ty3/Gypsy-like protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=2;  Comment=The ribosomal frameshifting efficiency yield up to 66% of isoform 1 compared to isoform 2. {ECO:0000269|PubMed:17942406}; Name=1; Synonyms=RF1/RF2; IsoId=Q86TG7-1; Sequence=Displayed; Note=Produced by a -1 ribosomal frameshifting due to a slippery site occurring between the codons for Gly-319 and Lys-320.; Name=2; Synonyms=RF1; IsoId=Q86TG7-2; Sequence=VSP_032007, VSP_032008; Note=Produced by conventional translation. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:20068231}; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Detected predominantly in the cytoplasm of breast and prostate carcinomas, in hepatocellular carcinoma (HCC) and B-cell chronic lymphocytic leukemia (B-CLL) cells and in the Hep-G2 cell line. Colocalized with ALK1.


uniprotID: P25105
geneSymbol: PTAFR
reactome: R-HSA-373076;R-HSA-416476;R-HSA-6783783;R-HSA-6798695;R-HSA-877300;
pdb: 2B0X;
name: Platelet-activating factor receptor (PAF-R) (PAFr)
length: 342
go: ENSG00000169403;
snps: rs5938 rs5939
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; tertiary granule membrane [GO:0070821]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; G protein-coupled receptor activity [GO:0004930]; lipopolysaccharide binding [GO:0001530]; lipopolysaccharide receptor activity [GO:0001875]; mitogen-activated protein kinase binding [GO:0051019]; phospholipid binding [GO:0005543]; platelet activating factor receptor activity [GO:0004992]; cellular response to 2-O-acetyl-1-O-hexadecyl-sn-glycero-3-phosphocholine [GO:1904317]; cellular response to cAMP [GO:0071320]; cellular response to fatty acid [GO:0071398]; cellular response to gravity [GO:0071258]; chemotaxis [GO:0006935]; cytokine production [GO:0001816]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; inositol trisphosphate biosynthetic process [GO:0032959]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of blood pressure [GO:0045776]; neutrophil degranulation [GO:0043312]; parturition [GO:0007567]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of gastro-intestinal system smooth muscle contraction [GO:1904306]; positive regulation of inositol phosphate biosynthetic process [GO:0060732]; positive regulation of interleukin-6 biosynthetic process [GO:0045410]; positive regulation of leukocyte tethering or rolling [GO:1903238]; positive regulation of maternal process involved in parturition [GO:1904303]; positive regulation of neutrophil degranulation [GO:0043315]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of sensory perception of pain [GO:1904058]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcytosis [GO:1904300]; positive regulation of translation [GO:0045727]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of vasoconstriction [GO:0045907]; positive regulation of voltage-gated chloride channel activity [GO:1902943]; regulation of transcription by RNA polymerase II [GO:0006357]; response to dexamethasone [GO:0071548]; response to symbiotic bacterium [GO:0009609]; transcytosis [GO:0045056]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1374385}; Multi-pass membrane protein {ECO:0000269|PubMed:1374385}.


uniprotID: P12955
geneSymbol: PEPD
pdb: 2IW2;2OKN;5M4G;5M4J;5M4L;5M4Q;5MBY;5MBZ;5MC0;5MC1;5MC2;5MC3;5MC4;5MC5;6H2P;6H2Q;
length: 493
go: ENSG00000124299;
snps: rs121917722 rs121917721 rs121917723 rs2230062 rs17570 rs121917724
name:
Xaa-Pro dipeptidase (X-Pro dipeptidase) (EC 3.4.13.9) (Imidodipeptidase) (Peptidase D) (Proline dipeptidase) (Prolidase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; aminopeptidase activity [GO:0004177]; manganese ion binding [GO:0030145]; metallocarboxypeptidase activity [GO:0004181]; proline dipeptidase activity [GO:0102009]; cellular amino acid metabolic process [GO:0006520]; collagen catabolic process [GO:0030574]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P12955-1; Sequence=Displayed; Name=2; IsoId=P12955-2; Sequence=VSP_042629; Note=No experimental confirmation available.; Name=3; IsoId=P12955-3; Sequence=VSP_045370; Note=No experimental confirmation available.; 


uniprotID: Q8NDH3
geneSymbol: NPEPL1
name: Probable aminopeptidase NPEPL1 (EC 3.4.11.-) (Aminopeptidase-like 1)
length: 523
go: ENSG00000215440;
snps: rs8116292 rs6026468
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; aminopeptidase activity [GO:0004177]; manganese ion binding [GO:0030145]; metalloexopeptidase activity [GO:0008235]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NDH3-1; Sequence=Displayed; Name=2; IsoId=Q8NDH3-2; Sequence=VSP_007253, VSP_007254; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q8NDH3-3; Sequence=VSP_007251, VSP_007252; Note=No experimental confirmation available.; Name=4; IsoId=Q8NDH3-4; Sequence=VSP_044526; Note=No experimental confirmation available.; Name=5; IsoId=Q8NDH3-5; Sequence=VSP_044527; Note=No experimental confirmation available.; 


uniprotID: P25208
geneSymbol: NFYB
reactome: R-HSA-1989781;R-HSA-2426168;R-HSA-380994;R-HSA-381183;
pdb: 1N1J;4AWL;4CSR;
length: 207
go: ENSG00000120837;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear transcription factor Y subunit beta (CAAT box DNA-binding protein subunit B) (Nuclear transcription factor Y subunit B) (NF-YB)

sequence:

opentargets:
CCAAT-binding factor complex [GO:0016602]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; repressing transcription factor binding [GO:0070491]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cellular response to leukemia inhibitory factor [GO:1990830]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: P22392
geneSymbol: NME2
reactome: R-HSA-499943;R-HSA-6798695;
pdb: 1NSK;1NUE;3BBB;3BBC;3BBF;
length: 152
go: ENSG00000011052;ENSG00000243678;
drug: DB00718;DB04315;DB00709;DB00300;
name:
Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (EC 2.7.4.6) (C-myc purine-binding transcription factor PUF) (Histidine protein kinase NDKB) (EC 2.7.13.3) (nm23-H2)

sequence:
MANLERTFIAIKPDGVQRGLVGEIIKRFEQKGFRLVAMKFLRASEEHLKQHYIDLKDRPFFPGLVKYMNSGPVVAMVWEGLNVVKTGRVMLGETNPADSKPGTIRGDFCIQVGRNIIHGSDSVKSAEKEISLWFKPEELVDYKSCAHDWVYE

opentargets:
cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; intermediate filament [GO:0005882]; lamellipodium [GO:0030027]; mitochondrial membrane [GO:0031966]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ruffle [GO:0001726]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; enzyme binding [GO:0019899]; fatty acid binding [GO:0005504]; G-quadruplex DNA binding [GO:0051880]; GDP binding [GO:0019003]; intermediate filament binding [GO:0019215]; metal ion binding [GO:0046872]; nucleoside diphosphate kinase activity [GO:0004550]; protein histidine kinase activity [GO:0004673]; protein serine/threonine kinase activity [GO:0004674]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell adhesion [GO:0007155]; cellular response to fatty acid [GO:0071398]; cellular response to glucose stimulus [GO:0071333]; cellular response to oxidative stress [GO:0034599]; CTP biosynthetic process [GO:0006241]; GTP biosynthetic process [GO:0006183]; integrin-mediated signaling pathway [GO:0007229]; negative regulation of apoptotic process [GO:0043066]; negative regulation of myeloid leukocyte differentiation [GO:0002762]; neutrophil degranulation [GO:0043312]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of neuron projection development [GO:0010976]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein autophosphorylation [GO:0046777]; protein complex oligomerization [GO:0051259]; regulation of epidermis development [GO:0045682]; regulation of transcription, DNA-templated [GO:0006355]; response to growth hormone [GO:0060416]; UTP biosynthetic process [GO:0006228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=NM23-H2; IsoId=P22392-1; Sequence=Displayed; Name=3; Synonyms=NM23-LV; IsoId=P22392-2; Sequence=VSP_036708; Note=Based on a naturally occurring readthrough transcript which produces an NME1-NME2 fusion protein. {ECO:0000250}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16442775}. Nucleus {ECO:0000269|PubMed:16442775}. Cell projection, lamellipodium {ECO:0000269|PubMed:11919189}. Cell projection, ruffle {ECO:0000269|PubMed:11919189}. Note=Isoform 3 is mainly cytoplasmic and isoform 1 and isoform 3 are excluded from the nucleolus. Colocalizes with ITGB1 and ITGB1BP1 at the edge or peripheral ruffles and lamellipodia during the early stages of cell spreading on fibronectin or collagen but not on vitronectin or laminin substrates. {ECO:0000269|PubMed:11919189, ECO:0000269|PubMed:16442775}.


uniprotID: Q16617
geneSymbol: NKG7
length: 165
go: ENSG00000105374;
opentargets: integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]
name:
Protein NKG7 (G-CSF-induced gene 1 protein) (GIG-1 protein) (Granule membrane protein of 17 kDa) (GMP-17) (Natural killer cell protein 7) (p15-TIA-1)

sequence:
MELCRSLALLGGSLGLMFCLIALSTDFWFEAVGPTHSAHSGLWPTGHGDIISGYIHVTQTFSIMAVLWALVSVSFLVLSCFPSLFPPGHGPLVSTTAAFAAAISMVVAMAVYTSERWDQPPHPQIQTFFSWSFYLGWVSAILLLCTGALSLGAHCGGPRPGYETL

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8570616}; Multi-pass membrane protein {ECO:0000269|PubMed:8570616}. Cytoplasmic granule membrane {ECO:0000269|PubMed:8570616}; Multi-pass membrane protein {ECO:0000269|PubMed:8570616}. Note=Cytoplasmic granules of cytolytic T-lymphocytes, NK cells, and neutrophils.


uniprotID: Q9NPP4
geneSymbol: NLRC4
reactome: R-HSA-6803207;R-HSA-844623;
length: 1024
go: ENSG00000091106;
snps: rs587777840 rs587781260 rs606231460
name:
NLR family CARD domain-containing protein 4 (CARD, LRR, and NACHT-containing protein) (Clan protein) (Caspase recruitment domain-containing protein 12) (Ice protease-activating factor) (Ipaf)

sequence:

opentargets:
cytosol [GO:0005829]; IPAF inflammasome complex [GO:0072557]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; protein homodimerization activity [GO:0042803]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of innate immune response [GO:0002218]; apoptotic process [GO:0006915]; defense response to bacterium [GO:0042742]; detection of bacterium [GO:0016045]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1 beta secretion [GO:0050702]; positive regulation of apoptotic process [GO:0043065]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein homooligomerization [GO:0051260]; pyroptosis [GO:0070269]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CLANA; IsoId=Q9NPP4-1; Sequence=Displayed; Name=2; Synonyms=CLANB; IsoId=Q9NPP4-2; Sequence=VSP_000784; Name=3; Synonyms=CLANC; IsoId=Q9NPP4-3; Sequence=VSP_000785, VSP_000786; Name=4; Synonyms=CLAND; IsoId=Q9NPP4-4; Sequence=VSP_000787, VSP_000788; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11390368}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q3UP24}. Note=Cytoplasmic filaments.


uniprotID: Q86WI3
geneSymbol: NLRC5
reactome: R-HSA-168928;R-HSA-936440;
length: 1866
go: ENSG00000140853;
snps: rs16965150 rs9938543 rs28438857 rs35534915 rs1672867 rs289723 rs7190199 rs7185320
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20061403, ECO:0000269|PubMed:20434986}.
name:
Protein NLRC5 (Caterpiller protein 16.1) (CLR16.1) (Nucleotide-binding oligomerization domain protein 27) (Nucleotide-binding oligomerization domain protein 4)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of type I interferon production [GO:0032480]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]; positive regulation of interferon-gamma-mediated signaling pathway [GO:0060335]; positive regulation of MHC class I biosynthetic process [GO:0045345]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; regulation of kinase activity [GO:0043549]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q86WI3-1; Sequence=Displayed; Name=2; IsoId=Q86WI3-2; Sequence=VSP_027152, VSP_027153; 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.; Name=3; IsoId=Q86WI3-3; Sequence=VSP_027150; 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.; Name=4; IsoId=Q86WI3-4; Sequence=VSP_027151; Note=No experimental confirmation available.; Name=5; IsoId=Q86WI3-5; Sequence=VSP_027151, VSP_027154, VSP_027155; 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.; Name=6; IsoId=Q86WI3-6; Sequence=VSP_027156, VSP_027157; 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: Q9UBE8
geneSymbol: NLK
reactome: R-HSA-4086398;
name: Serine/threonine-protein kinase NLK (EC 2.7.11.24) (Nemo-like kinase) (Protein LAK1)
length: 527
go: ENSG00000087095;
snps: rs11871287
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; MAP kinase activity [GO:0004707]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; SH2 domain binding [GO:0042169]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; intracellular signal transduction [GO:0035556]; negative regulation of Wnt signaling pathway [GO:0030178]; peptidyl-threonine phosphorylation [GO:0018107]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of gene expression [GO:0010468]; regulation of transcription, DNA-templated [GO:0006355]; serine phosphorylation of STAT protein [GO:0042501]; transforming growth factor beta receptor signaling pathway [GO:0007179]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Predominantly nuclear. A smaller fraction is cytoplasmic (By similarity). {ECO:0000250}.


uniprotID: Q86U38
geneSymbol: NOP9
name: Nucleolar protein 9
length: 636
go: ENSG00000196943;
opentargets: RNA binding [GO:0003723]
snps: rs11848295 rs4280164 rs374412139
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86U38-1; Sequence=Displayed; Name=2; IsoId=Q86U38-2; Sequence=VSP_055693, VSP_055694; Note=No experimental confirmation available.; 


uniprotID: A1L443
geneSymbol: NUTM2F
name: NUT family member 2F
length: 756
go: ENSG00000130950;
snps: rs202099818 rs190275133
sequence:


uniprotID: Q13253
geneSymbol: NOG
reactome: R-HSA-201451;
pdb: 1M4U;
name: Noggin
length: 232
go: ENSG00000183691;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine binding [GO:0019955]; protein homodimerization activity [GO:0042803]; atrial cardiac muscle tissue morphogenesis [GO:0055009]; axial mesoderm development [GO:0048318]; BMP signaling pathway [GO:0030509]; BMP signaling pathway involved in heart development [GO:0061312]; cartilage development [GO:0051216]; cell differentiation in hindbrain [GO:0021533]; dorsal/ventral pattern formation [GO:0009953]; embryonic digit morphogenesis [GO:0042733]; embryonic skeletal joint morphogenesis [GO:0060272]; embryonic skeletal system development [GO:0048706]; endocardial cushion morphogenesis [GO:0003203]; endoderm formation [GO:0001706]; epithelial to mesenchymal transition [GO:0001837]; face morphogenesis [GO:0060325]; fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation [GO:0060825]; heart trabecula morphogenesis [GO:0061384]; in utero embryonic development [GO:0001701]; limb development [GO:0060173]; lung morphogenesis [GO:0060425]; membranous septum morphogenesis [GO:0003149]; mesoderm formation [GO:0001707]; middle ear morphogenesis [GO:0042474]; motor neuron axon guidance [GO:0008045]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of cartilage development [GO:0061037]; negative regulation of cell migration [GO:0030336]; negative regulation of cytokine activity [GO:0060302]; negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation [GO:1905006]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]; neural plate morphogenesis [GO:0001839]; neural tube closure [GO:0001843]; notochord morphogenesis [GO:0048570]; osteoblast differentiation [GO:0001649]; outflow tract morphogenesis [GO:0003151]; pharyngeal arch artery morphogenesis [GO:0061626]; pituitary gland development [GO:0021983]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of gene expression [GO:0010628]; positive regulation of glomerulus development [GO:0090193]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prostatic bud formation [GO:0060513]; regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation [GO:2000313]; skeletal system development [GO:0001501]; somatic stem cell population maintenance [GO:0035019]; somite development [GO:0061053]; spinal cord development [GO:0021510]; ureteric bud formation [GO:0060676]; ventricular compact myocardium morphogenesis [GO:0003223]; ventricular septum morphogenesis [GO:0060412]; wound healing [GO:0042060]

snps:
rs28937580 rs104894611 rs28937580 rs121908949 rs104894612 rs104894609 rs104894610 rs104894615 rs104894603 rs104894602 rs121908948 rs104894608 rs387906844 


uniprotID: Q9H649
geneSymbol: NSUN3
length: 340
go: ENSG00000178694;
snps: rs17854922
name:
tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 3)

sequence:

opentargets:
mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; methyltransferase activity [GO:0008168]; tRNA (cytosine-5-)-methyltransferase activity [GO:0016428]; tRNA binding [GO:0000049]; regulation of mitochondrial translation [GO:0070129]; rRNA methylation [GO:0031167]; tRNA wobble base cytosine methylation [GO:0002127]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:27214402, ECO:0000269|PubMed:27356879, ECO:0000269|PubMed:27497299}.


uniprotID: Q96AB6
geneSymbol: NTAN1
length: 310
go: ENSG00000157045;
snps: rs1136001 rs1135999
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q28955}.
name:
Protein N-terminal asparagine amidohydrolase (EC 3.5.1.121) (Protein NH2-terminal asparagine amidohydrolase) (PNAA) (Protein NH2-terminal asparagine deamidase) (PNAD) (Protein N-terminal Asn amidase) (Protein N-terminal asparagine amidase) (Protein NTN-amidase)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein-N-terminal asparagine amidohydrolase activity [GO:0008418]; adult locomotory behavior [GO:0008344]; memory [GO:0007613]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: P60510
geneSymbol: PPP4C
reactome: R-HSA-5693607;
length: 307
go: ENSG00000149923;
name:
Serine/threonine-protein phosphatase 4 catalytic subunit (PP4C) (Pp4) (EC 3.1.3.16) (Protein phosphatase X) (PP-X)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein phosphatase 4 complex [GO:0030289]; metal ion binding [GO:0046872]; NF-kappaB-inducing kinase activity [GO:0004704]; protein serine/threonine phosphatase activity [GO:0004722]; regulation of double-strand break repair via homologous recombination [GO:0010569]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.


uniprotID: Q8N4L2
geneSymbol: PIP4P2
length: 257
go: ENSG00000155099;
name:
Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase (Type 2 PtdIns-4,5-P2 4-Ptase) (EC 3.1.3.78) (PtdIns-4,5-P2 4-Ptase II) (Transmembrane protein 55A)

sequence:

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity [GO:0034597]; phosphatidylinositol dephosphorylation [GO:0046856]

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:16365287}; Multi-pass membrane protein {ECO:0000269|PubMed:16365287}. Lysosome membrane {ECO:0000269|PubMed:16365287}; Multi-pass membrane protein {ECO:0000269|PubMed:16365287}.


uniprotID: Q6NUP7
geneSymbol: PPP4R4
name: Serine/threonine-protein phosphatase 4 regulatory subunit 4
length: 873
go: ENSG00000119698;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18715871}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; protein serine/threonine phosphatase complex [GO:0008287]; protein phosphatase regulator activity [GO:0019888]; blastocyst hatching [GO:0001835]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; regulation of protein serine/threonine phosphatase activity [GO:0080163]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUP7-1; Sequence=Displayed; Name=2; IsoId=Q6NUP7-2; Sequence=VSP_029616, VSP_029617; Note=No experimental confirmation available.; 


uniprotID: O75170
geneSymbol: PPP6R2
name: Serine/threonine-protein phosphatase 6 regulatory subunit 2 (SAPS domain family member 2)
length: 966
go: ENSG00000100239;
opentargets: cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]
snps: rs11555194 rs13057311
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16769727}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O75170-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O75170-2; Sequence=VSP_030758, VSP_030759, VSP_030760, VSP_030761; Note=No experimental confirmation available.; Name=3; IsoId=O75170-3; Sequence=VSP_037768, VSP_030758, VSP_030760; Name=4; IsoId=O75170-4; Sequence=VSP_030758, VSP_030760; Name=5; IsoId=O75170-5; Sequence=VSP_030760; Name=6; IsoId=O75170-6; Sequence=VSP_037767, VSP_030758, VSP_030760; 


uniprotID: P29371
geneSymbol: TACR3
reactome: R-HSA-380095;R-HSA-416476;
name: Neuromedin-K receptor (NKR) (NK-3 receptor) (NK-3R) (Neurokinin B receptor) (Tachykinin receptor 3)
length: 465
go: ENSG00000169836;
drug: DB04872;
snps: rs121918124 rs2276973 rs200148989 rs121918125 rs150288991 rs17033889
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite membrane [GO:0032590]; integral component of plasma membrane [GO:0005887]; neuronal cell body membrane [GO:0032809]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sperm midpiece [GO:0097225]; tachykinin receptor activity [GO:0004995]; aging [GO:0007568]; G protein-coupled receptor signaling pathway [GO:0007186]; hyperosmotic salinity response [GO:0042538]; positive regulation of blood pressure [GO:0045777]; positive regulation of flagellated sperm motility [GO:1902093]; positive regulation of heart rate [GO:0010460]; positive regulation of uterine smooth muscle contraction [GO:0070474]; regulation of dopamine metabolic process [GO:0042053]; regulation of feeding behavior [GO:0060259]; response to cocaine [GO:0042220]; response to estradiol [GO:0032355]; response to morphine [GO:0043278]; tachykinin receptor signaling pathway [GO:0007217]


uniprotID: Q8N2Q7
geneSymbol: NLGN1
reactome: R-HSA-6794361;
pdb: 5OJ6;5OJK;
name: Neuroligin-1
length: 840
go: ENSG00000169760;
sequence:

opentargets:
asymmetric, glutamatergic, excitatory synapse [GO:0098985]; cell junction [GO:0030054]; cell surface [GO:0009986]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; external side of plasma membrane [GO:0009897]; filopodium tip [GO:0032433]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of postsynaptic specialization membrane [GO:0099060]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; spanning component of membrane [GO:0089717]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; cell adhesion molecule binding [GO:0050839]; neurexin family protein binding [GO:0042043]; PDZ domain binding [GO:0030165]; protein dimerization activity [GO:0046983]; scaffold protein binding [GO:0097110]; signaling receptor activity [GO:0038023]; AMPA glutamate receptor clustering [GO:0097113]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cellular response to calcium ion [GO:0071277]; cytoskeletal matrix organization at active zone [GO:0048789]; establishment of protein localization [GO:0045184]; excitatory synapse assembly [GO:1904861]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; long-term synaptic potentiation [GO:0060291]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of dendritic spine morphogenesis [GO:0061002]; nervous system development [GO:0007399]; neurexin clustering involved in presynaptic membrane assembly [GO:0097115]; neuron cell-cell adhesion [GO:0007158]; neuron projection arborization [GO:0140058]; neuron projection development [GO:0031175]; neuronal signal transduction [GO:0023041]; NMDA glutamate receptor clustering [GO:0097114]; positive regulation of circadian sleep/wake cycle, wakefulness [GO:0010841]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of intracellular signal transduction [GO:1902533]; positive regulation of presynaptic active zone assembly [GO:1905520]; positive regulation of protein localization to synapse [GO:1902474]; positive regulation of ruffle assembly [GO:1900029]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of synaptic vesicle clustering [GO:2000809]; positive regulation of synaptic vesicle endocytosis [GO:1900244]; positive regulation of synaptic vesicle exocytosis [GO:2000302]; postsynaptic density protein 95 clustering [GO:0097119]; postsynaptic membrane assembly [GO:0097104]; postsynaptic specialization assembly [GO:0098698]; presynapse assembly [GO:0099054]; presynaptic membrane assembly [GO:0097105]; protein heterotetramerization [GO:0051290]; protein homooligomerization [GO:0051260]; protein localization to synapse [GO:0035418]; protein targeting [GO:0006605]; receptor localization to synapse [GO:0097120]; regulation of AMPA receptor activity [GO:2000311]; regulation of neuron differentiation [GO:0045664]; regulation of NMDA receptor activity [GO:2000310]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; retrograde trans-synaptic signaling by trans-synaptic protein complex [GO:0098942]; rhythmic process [GO:0048511]; synapse assembly [GO:0007416]; synaptic membrane adhesion [GO:0099560]; synaptic vesicle clustering [GO:0097091]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle targeting [GO:0016080]; terminal button organization [GO:0072553]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N2Q7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N2Q7-2; Sequence=VSP_007527; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Enriched in synaptic plasma membranes and clustered in synaptic clefts and postsynaptic densities. Detected at dendritic spines. Colocalized with DLG4/PSD-95 and GRIN1/NMDAR1 (By similarity). {ECO:0000250}.


uniprotID: Q96D46
geneSymbol: NMD3
name: 60S ribosomal export protein NMD3 (hNMD3)
length: 503
go: ENSG00000169251;
snps: rs12490341
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein binding, bridging [GO:0030674]; ribosomal large subunit binding [GO:0043023]; RNA binding [GO:0003723]; positive regulation of protein binding [GO:0032092]; positive regulation of protein localization to nucleolus [GO:1904751]; positive regulation of RNA biosynthetic process [GO:1902680]; ribosomal large subunit export from nucleus [GO:0000055]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12724356, ECO:0000269|PubMed:12773398}. Nucleus {ECO:0000269|PubMed:12724356, ECO:0000269|PubMed:12773398}. Note=Shuttles between the nucleus/nucleolus and the cytoplasm in a XPO1/CRM1-dependent manner. {ECO:0000269|PubMed:12724356, ECO:0000269|PubMed:12773398}.


uniprotID: P57740
geneSymbol: NUP107
pdb: 3CQC;3CQG;3I4R;5A9Q;
name: Nuclear pore complex protein Nup107 (107 kDa nucleoporin) (Nucleoporin Nup107)
length: 925
go: ENSG00000111581;
snps: rs864321633 rs864321632
reactome:
R-HSA-1169408;R-HSA-141444;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;R-HSA-165054;R-HSA-168271;R-HSA-168276;R-HSA-168325;R-HSA-168333;R-HSA-170822;R-HSA-180746;R-HSA-180910;R-HSA-191859;R-HSA-2467813;R-HSA-2500257;R-HSA-3108214;R-HSA-3232142;R-HSA-3301854;R-HSA-3371453;R-HSA-4085377;R-HSA-4551638;R-HSA-4570464;R-HSA-4615885;R-HSA-5578749;R-HSA-5663220;R-HSA-6784531;R-HSA-68877;

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; nuclear pore outer ring [GO:0031080]; structural constituent of nuclear pore [GO:0017056]; female gonad development [GO:0008585]; mRNA export from nucleus [GO:0006406]; nuclear pore complex assembly [GO:0051292]; posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery [GO:0000973]; protein import into nucleus [GO:0006606]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P57740-1; Sequence=Displayed; Name=2; IsoId=P57740-2; Sequence=VSP_054263; Note=No experimental confirmation available.; Name=3; IsoId=P57740-3; Sequence=VSP_054262, VSP_054264; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:26411495}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:26411495}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11564755}. Note=Located on both the cytoplasmic and nuclear sides of the NPC core structure (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). Dissociates from the dissasembled NPC structure late during prophase of mitosis (PubMed:11564755). {ECO:0000269|PubMed:11564755}.


uniprotID: Q03181
geneSymbol: PPARD
reactome: R-HSA-200425;R-HSA-204174;R-HSA-383280;R-HSA-5362517;
length: 441
go: ENSG00000112033;
drug: DB04801;DB07070;DB07724;DB01393;DB05187;DB09462;DB03338;DB00159;DB05188;DB00605;DB00374;DB08078;
location: SUBCELLULAR LOCATION: Nucleus.
pdb:
1GWX;1Y0S;2AWH;2B50;2BAW;2ENV;2GWX;2J14;2Q5G;2XYJ;2XYW;2XYX;2ZNP;2ZNQ;3D5F;3DY6;3ET2;3GWX;3GZ9;3OZ0;3PEQ;3SP9;3TKM;5U3Q;5U3R;5U3S;5U3T;5U3U;5U3V;5U3W;5U3X;5U3Y;5U3Z;5U40;5U41;5U42;5U43;5U44;5U45;5U46;5XMX;5Y7X;

name:
Peroxisome proliferator-activated receptor delta (PPAR-delta) (NUCI) (Nuclear hormone receptor 1) (NUC1) (Nuclear receptor subfamily 1 group C member 2) (Peroxisome proliferator-activated receptor beta) (PPAR-beta)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; drug binding [GO:0008144]; fatty acid binding [GO:0005504]; linoleic acid binding [GO:0070539]; lipid binding [GO:0008289]; NF-kappaB binding [GO:0051059]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II repressing transcription factor binding [GO:0001103]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; adipose tissue development [GO:0060612]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; axon ensheathment [GO:0008366]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cell-substrate adhesion [GO:0031589]; cellular response to hypoxia [GO:0071456]; cellular response to lipopolysaccharide [GO:0071222]; cholesterol metabolic process [GO:0008203]; decidualization [GO:0046697]; embryo implantation [GO:0007566]; fatty acid beta-oxidation [GO:0006635]; fatty acid catabolic process [GO:0009062]; fatty acid metabolic process [GO:0006631]; fatty acid transport [GO:0015908]; generation of precursor metabolites and energy [GO:0006091]; glucose metabolic process [GO:0006006]; glucose transmembrane transport [GO:1904659]; heart development [GO:0007507]; hormone-mediated signaling pathway [GO:0009755]; keratinocyte migration [GO:0051546]; keratinocyte proliferation [GO:0043616]; lipid metabolic process [GO:0006629]; mRNA transcription [GO:0009299]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of inflammatory response [GO:0050728]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; phospholipid biosynthetic process [GO:0008654]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of epidermis development [GO:0045684]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of insulin secretion [GO:0032024]; positive regulation of myoblast proliferation [GO:2000288]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of skeletal muscle tissue regeneration [GO:0043415]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; proteoglycan metabolic process [GO:0006029]; regulation of lipid metabolic process [GO:0019216]; regulation of skeletal muscle satellite cell proliferation [GO:0014842]; regulation of transcription by RNA polymerase II [GO:0006357]; response to activity [GO:0014823]; response to glucose [GO:0009749]; response to lipid [GO:0033993]; response to vitamin A [GO:0033189]; transcription initiation from RNA polymerase II promoter [GO:0006367]; vitamin A metabolic process [GO:0006776]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q03181-1; Sequence=Displayed; Name=2; IsoId=Q03181-2; Sequence=VSP_010133, VSP_010134; Name=3; IsoId=Q03181-3; Sequence=VSP_043787; Name=4; IsoId=Q03181-4; Sequence=VSP_046104; Note=No experimental confirmation available.; 


uniprotID: Q9NZJ9
geneSymbol: NUDT4
reactome: R-HSA-1855167;
pdb: 5LTU;
length: 180
go: ENSG00000173598;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12121577}.
name:
Diphosphoinositol polyphosphate phosphohydrolase 2 (DIPP-2) (EC 3.6.1.52) (Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 2) (Nucleoside diphosphate-linked moiety X motif 4) (Nudix motif 4)

sequence:
MMKFKPNQTRTYDREGFKKRAACLCFRSEQEDEVLLVSSSRYPDQWIVPGGGMEPEEEPGGAAVREVYEEAGVKGKLGRLLGIFENQDRKHRTYVYVLTVTEILEDWEDSVNIGRKREWFKVEDAIKVLQCHKPVHAEYLEKLKLGCSPANGNSTVPSLPDNNALFVTAAQTSGLPSSVR

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleus [GO:0005634]; bis(5'-adenosyl)-hexaphosphatase activity [GO:0034431]; bis(5'-adenosyl)-pentaphosphatase activity [GO:0034432]; diphosphoinositol-polyphosphate diphosphatase activity [GO:0008486]; endopolyphosphatase activity [GO:0000298]; inositol bisdiphosphate tetrakisphosphate diphosphatase activity [GO:0052841]; inositol diphosphate pentakisphosphate diphosphatase activity [GO:0052842]; inositol diphosphate tetrakisphosphate diphosphatase activity [GO:0052840]; inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity [GO:0052846]; inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity [GO:0052847]; inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity [GO:0052843]; inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity [GO:0052848]; inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity [GO:0052844]; inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity [GO:0052845]; m7G(5')pppN diphosphatase activity [GO:0050072]; metal ion binding [GO:0046872]; snoRNA binding [GO:0030515]; adenosine 5'-(hexahydrogen pentaphosphate) catabolic process [GO:1901911]; calcium-mediated signaling [GO:0019722]; cyclic-nucleotide-mediated signaling [GO:0019935]; diadenosine hexaphosphate catabolic process [GO:1901909]; diadenosine pentaphosphate catabolic process [GO:1901907]; diphosphoinositol polyphosphate metabolic process [GO:0071543]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha, DIPP2alpha; IsoId=Q9NZJ9-1; Sequence=Displayed; Name=2; Synonyms=Beta, DIPP2beta; IsoId=Q9NZJ9-2; Sequence=VSP_014270; Name=3; IsoId=Q9NZJ9-3; Sequence=VSP_014269, VSP_014270; 


uniprotID: Q92621
geneSymbol: NUP205
pdb: 5IJN;5IJO;
name: Nuclear pore complex protein Nup205 (205 kDa nucleoporin) (Nucleoporin Nup205)
length: 2012
go: ENSG00000155561;
snps: rs7797639 rs7810767 rs869312984
sequence:

opentargets:
membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; nuclear pore inner ring [GO:0044611]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; nuclear pore complex assembly [GO:0051292]; nuclear pore organization [GO:0006999]; nucleocytoplasmic transport [GO:0006913]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283}; Peripheral membrane protein {ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:9348540}. Note=Localized near the center, on both the cytoplasmic and nuclear side, of the NPC core structure. {ECO:0000269|PubMed:15229283}.


uniprotID: O95989
geneSymbol: NUDT3
reactome: R-HSA-1855167;
pdb: 2FVV;2Q9P;
length: 172
go: ENSG00000272325;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Diphosphoinositol polyphosphate phosphohydrolase 1 (DIPP-1) (EC 3.6.1.52) (Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 1) (EC 3.6.1.-) (Nucleoside diphosphate-linked moiety X motif 3) (Nudix motif 3)

sequence:
MMKLKSNQTRTYDGDGYKKRAACLCFRSESEEEVLLVSSSRHPDRWIVPGGGMEPEEEPSVAAVREVCEEAGVKGTLGRLVGIFENQERKHRTYVYVLIVTEVLEDWEDSVNIGRKREWFKIEDAIKVLQYHKPVQASYFETLRQGYSANNGTPVVATTYSVSAQSSMSGIR

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; bis(5'-adenosyl)-hexaphosphatase activity [GO:0034431]; bis(5'-adenosyl)-pentaphosphatase activity [GO:0034432]; diphosphoinositol-polyphosphate diphosphatase activity [GO:0008486]; endopolyphosphatase activity [GO:0000298]; inositol bisdiphosphate tetrakisphosphate diphosphatase activity [GO:0052841]; inositol diphosphate pentakisphosphate diphosphatase activity [GO:0052842]; inositol diphosphate tetrakisphosphate diphosphatase activity [GO:0052840]; inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity [GO:0052846]; inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity [GO:0052847]; inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity [GO:0052843]; inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity [GO:0052848]; inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity [GO:0052844]; inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity [GO:0052845]; m7G(5')pppN diphosphatase activity [GO:0050072]; magnesium ion binding [GO:0000287]; adenosine 5'-(hexahydrogen pentaphosphate) catabolic process [GO:1901911]; cell-cell signaling [GO:0007267]; diadenosine hexaphosphate catabolic process [GO:1901909]; diadenosine pentaphosphate catabolic process [GO:1901907]; diadenosine polyphosphate catabolic process [GO:0015961]; diphosphoinositol polyphosphate catabolic process [GO:0071544]; diphosphoinositol polyphosphate metabolic process [GO:0071543]; inositol phosphate metabolic process [GO:0043647]


uniprotID: Q8NFH4
geneSymbol: NUP37
pdb: 5A9Q;
name: Nucleoporin Nup37 (p37) (Nup107-160 subcomplex subunit Nup37)
length: 326
go: ENSG00000075188;
location: SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex.
reactome:
R-HSA-1169408;R-HSA-141444;R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;R-HSA-165054;R-HSA-168271;R-HSA-168276;R-HSA-168325;R-HSA-168333;R-HSA-170822;R-HSA-180746;R-HSA-180910;R-HSA-191859;R-HSA-2467813;R-HSA-2500257;R-HSA-3108214;R-HSA-3232142;R-HSA-3301854;R-HSA-3371453;R-HSA-4085377;R-HSA-4551638;R-HSA-4570464;R-HSA-4615885;R-HSA-5578749;R-HSA-5663220;R-HSA-6784531;R-HSA-68877;

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; nuclear envelope [GO:0005635]; nuclear pore outer ring [GO:0031080]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mRNA export from nucleus [GO:0006406]; viral process [GO:0016032]


uniprotID: Q8NG94
geneSymbol: OR11H1
reactome: R-HSA-381753;
name: Olfactory receptor 11H1 (Olfactory receptor OR22-1)
length: 326
go: ENSG00000130538;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]


uniprotID: Q8NH07
geneSymbol: OR11H2
reactome: R-HSA-381753;
name: Olfactory receptor 11H2 (Olfactory receptor OR14-1)
length: 326
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]


uniprotID: Q9UKX7
geneSymbol: NUP50
pdb: 2EC1;3TJ3;
length: 468
go: ENSG00000093000;
name:
Nuclear pore complex protein Nup50 (50 kDa nucleoporin) (Nuclear pore-associated protein 60 kDa-like) (Nucleoporin Nup50)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Ran GTPase binding [GO:0008536]; mRNA export from nucleus [GO:0006406]; positive regulation of GTPase activity [GO:0043547]; protein import into nucleus [GO:0006606]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Npap60L; IsoId=Q9UKX7-1; Sequence=Displayed; Name=2; Synonyms=Npap60S; IsoId=Q9UKX7-2; Sequence=VSP_040633; Note=Contrarily to Npap60L, Npap60S does not displaces NLSs, but stabilizes their binding to importin-alpha. {ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:12802065}. Nucleus membrane {ECO:0000250|UniProtKB:O08587}; Peripheral membrane protein {ECO:0000250|UniProtKB:O08587}; Nucleoplasmic side {ECO:0000250|UniProtKB:O08587}. Note=Localizes to the nucleoplasmic fibrils of the nuclear pore complex (By similarity). Dissociates from the NPC structure early during prophase of mitosis (PubMed:12802065). Associates with the newly formed nuclear membrane during telophase (PubMed:12802065). In the testis, the localization changes during germ cell differentiation from the nuclear surface in spermatocytes to the whole nucleus (interior) in spermatids and back to the nuclear surface in spermatozoa (By similarity). {ECO:0000250|UniProtKB:O08587, ECO:0000269|PubMed:12802065}.


uniprotID: Q8NH74
geneSymbol: OR10A6
reactome: R-HSA-381753;
name: Olfactory receptor 10A6 (Olfactory receptor OR11-96)
length: 314
snps: rs7928451 rs7933807 rs4758258
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]


uniprotID: Q8NGC8
geneSymbol: OR11H7
reactome: R-HSA-381753;
name: Olfactory receptor 11H7 (Olfactory receptor OR14-32)
length: 314
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; olfactory receptor activity [GO:0004984]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]


uniprotID: Q149M9
geneSymbol: NWD1
name: NACHT domain- and WD repeat-containing protein 1
length: 1564
go: ENSG00000188039;
opentargets: cytosol [GO:0005829]; ATP binding [GO:0005524]
snps: rs3888834 rs11668502 rs706764 rs773930 rs2608737 rs2608738 rs11671361
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24681825}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q149M9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q149M9-2; Sequence=VSP_040651, VSP_040652; 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.; Name=3; IsoId=Q149M9-3; Sequence=VSP_028940, VSP_028941; Note=No experimental confirmation available.; 


uniprotID: Q9Y5P0
geneSymbol: OR51B4
reactome: R-HSA-381753;
name: Olfactory receptor 51B4 (Odorant receptor HOR5'beta1)
length: 310
go: ENSG00000183251;
snps: rs7118113 rs10837771
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; sensory perception of smell [GO:0007608]


uniprotID: Q8NH81
geneSymbol: OR10G6
reactome: R-HSA-381753;
name: Olfactory receptor 10G6 (Olfactory receptor OR11-280)
length: 332
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0C628
geneSymbol: OR5AC1
reactome: R-HSA-381753;
name: Olfactory receptor 5AC1 (Olfactory receptor OR3-2)
length: 307
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; odorant binding [GO:0005549]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]


uniprotID: Q8NGS9
geneSymbol: OR13C2
reactome: R-HSA-381753;
name: Olfactory receptor 13C2 (Olfactory receptor OR9-12)
length: 318
snps: rs1851716 rs10156474
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS6
geneSymbol: OR13C3
reactome: R-HSA-381753;
name: Olfactory receptor 13C3 (Olfactory receptor OR9-8)
length: 347
snps: rs10512330
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS5
geneSymbol: OR13C4
reactome: R-HSA-381753;
name: Olfactory receptor 13C4 (Olfactory receptor OR9-7)
length: 318
go: ENSG00000148136;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGC0
geneSymbol: OR5AU1
reactome: R-HSA-381753;
name: Olfactory receptor 5AU1 (Olfactory receptor OR14-38)
length: 362
go: ENSG00000169327;
snps: rs17102042 rs4982419 rs59120409 rs57985939 rs7145814
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; odorant binding [GO:0005549]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]


uniprotID: Q8NGX2
geneSymbol: OR2T35
reactome: R-HSA-381753;
name: Olfactory receptor 2T35 (Olfactory receptor OR1-66)
length: 323
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGX5
geneSymbol: OR10K1
reactome: R-HSA-381753;
name: Olfactory receptor 10K1 (Olfactory receptor OR1-6)
length: 313
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9GZY0
geneSymbol: NXF2; NXF2B
reactome: R-HSA-159236;
name: Nuclear RNA export factor 2 (Cancer/testis antigen 39) (CT39) (TAP-like protein 2) (TAPL-2)
length: 626
go: ENSG00000269405;ENSG00000269437;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear RNA export factor complex [GO:0042272]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA export from nucleus [GO:0006406]; multicellular organism development [GO:0007275]; poly(A)+ mRNA export from nucleus [GO:0016973]; RNA transport [GO:0050658]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Cytoplasm. Note=Localized in the nucleoplasm and at the nuclear envelope. Shuttles between the nucleus and the cytoplasm.


uniprotID: Q9P2P1
geneSymbol: NYNRIN
length: 1898
go: ENSG00000205978;
snps: rs12437434 rs8008203 rs8017377 rs3742518 rs17103672
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Protein NYNRIN (NYN domain and retroviral integrase catalytic domain-containing protein) (Protein cousin of GIN1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleic acid binding [GO:0003676]; DNA integration [GO:0015074]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2P1-1; Sequence=Displayed; Name=2; IsoId=Q9P2P1-2; Sequence=VSP_030237, VSP_030238, VSP_030239; Note=No experimental confirmation available.; 


uniprotID: Q8NGY1
geneSymbol: OR10Z1
reactome: R-HSA-381753;
name: Olfactory receptor 10Z1 (Olfactory receptor OR1-15)
length: 313
go: ENSG00000198967;
snps: rs857685
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q8NGH9
geneSymbol: OR52E4
reactome: R-HSA-381753;
name: Olfactory receptor 52E4 (Olfactory receptor OR11-55)
length: 312
snps: rs16914094 rs4758168 rs4757986 rs11823828 rs4757987 rs11823842
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P50897
geneSymbol: PPT1
reactome: R-HSA-75105;
pdb: 3GRO;
name: Palmitoyl-protein thioesterase 1 (PPT-1) (EC 3.1.2.22) (Palmitoyl-protein hydrolase 1)
length: 306
go: ENSG00000131238;
drug: DB02035;DB03796;
sequence:

opentargets:
axon [GO:0030424]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; membrane [GO:0016020]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; synaptic vesicle [GO:0008021]; palmitoyl-(protein) hydrolase activity [GO:0008474]; palmitoyl-CoA hydrolase activity [GO:0016290]; adult locomotory behavior [GO:0008344]; associative learning [GO:0008306]; brain development [GO:0007420]; cellular protein catabolic process [GO:0044257]; cofactor metabolic process [GO:0051186]; cofactor transport [GO:0051181]; fatty-acyl-CoA biosynthetic process [GO:0046949]; grooming behavior [GO:0007625]; lipid catabolic process [GO:0016042]; lysosomal lumen acidification [GO:0007042]; membrane raft organization [GO:0031579]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]; neuron development [GO:0048666]; neurotransmitter secretion [GO:0007269]; pinocytosis [GO:0006907]; positive regulation of pinocytosis [GO:0048549]; positive regulation of receptor-mediated endocytosis [GO:0048260]; protein catabolic process [GO:0030163]; protein depalmitoylation [GO:0002084]; protein transport [GO:0015031]; receptor-mediated endocytosis [GO:0006898]; regulation of phospholipase A2 activity [GO:0032429]; regulation of synapse structure or activity [GO:0050803]; response to stimulus [GO:0050896]; sphingolipid catabolic process [GO:0030149]; visual perception [GO:0007601]

snps:
rs386833626 rs386833627 rs386833631 rs137852702 rs137852696 rs137852697 rs137852701 rs386833642 rs137852695 rs1800205 rs386833646 rs386833647 rs386833650 rs148412181 rs148412181 rs386833657 rs386833658 rs137852698 rs386833661 rs386833663 rs386833665 rs386833666 rs386833669 rs386833671 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50897-1; Sequence=Displayed; Name=2; IsoId=P50897-2; Sequence=VSP_042033; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:19941651}. Secreted {ECO:0000250|UniProtKB:P45478}.


uniprotID: Q8NGI0
geneSymbol: OR52N2
reactome: R-HSA-381753;
name: Olfactory receptor 52N2 (Olfactory receptor OR11-57)
length: 321
snps: rs8181529 rs8181512
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9Y6R0
geneSymbol: NUMBL
pdb: 3F0W;
name: Numb-like protein (Numb-related protein) (Numb-R)
length: 609
go: ENSG00000105245;
sequence:

opentargets:
cytoplasm [GO:0005737]; adherens junction organization [GO:0034332]; axonogenesis [GO:0007409]; cytokine-mediated signaling pathway [GO:0019221]; lateral ventricle development [GO:0021670]; nervous system development [GO:0007399]; neuroblast division in subventricular zone [GO:0021849]; positive regulation of neurogenesis [GO:0050769]; protein metabolic process [GO:0019538]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Symmetrically distributed throughout the cytoplasm in non dividing neuroblasts of the CNS. {ECO:0000250}.


uniprotID: Q8NGC1
geneSymbol: OR11G2
reactome: R-HSA-381753;
name: Olfactory receptor 11G2 (Olfactory receptor OR14-34)
length: 345
snps: rs4981822 rs4981088
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0DN82
geneSymbol: OR12D1
name: Olfactory receptor 12D1 (Olfactory receptor 12D1 pseudogene)
length: 309
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9H205
geneSymbol: OR2AG1
reactome: R-HSA-381753;
name: Olfactory receptor 2AG1 (HT3) (Olfactory receptor 2AG3) (Olfactory receptor OR11-79)
length: 316
go: ENSG00000279486;
snps: rs2659880 rs2659879 rs2659879
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN3
geneSymbol: OR10G4
reactome: R-HSA-381753;
name: Olfactory receptor 10G4 (Olfactory receptor OR11-278)
length: 311
go: ENSG00000254737;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

snps:
rs547068 rs4474449 rs1893766 rs503223 rs503223 rs503223 rs1893764 rs4084209 rs11219408 rs4936880 rs4936881 


uniprotID: Q8NH76
geneSymbol: OR56B4
reactome: R-HSA-381753;
name: Olfactory receptor 56B4 (Olfactory receptor OR11-67)
length: 319
snps: rs1462983
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGE2
geneSymbol: OR2AP1
reactome: R-HSA-381753;
name: Olfactory receptor 2AP1 (Olfactory receptor OR12-9)
length: 309
go: ENSG00000179615;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q7Z3B4
geneSymbol: NUP54
pdb: 4JNU;4JNV;4JO7;4JO9;5IJN;5IJO;
name: Nucleoporin p54 (54 kDa nucleoporin)
length: 507
go: ENSG00000138750;
sequence:

opentargets:
nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore central transport channel [GO:0044613]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; NLS-bearing protein import into nucleus [GO:0006607]; nuclear pore organization [GO:0006999]; protein heterotetramerization [GO:0051290]; protein heterotrimerization [GO:0070208]; protein homooligomerization [GO:0051260]; protein localization to nuclear inner membrane [GO:0036228]; protein targeting [GO:0006605]; regulation of protein import into nucleus [GO:0042306]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z3B4-1; Sequence=Displayed; Name=2; IsoId=Q7Z3B4-2; Sequence=VSP_008740, VSP_008741; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z3B4-3; Sequence=VSP_054355; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000250|UniProtKB:P70582}. Nucleus membrane {ECO:0000250|UniProtKB:P70582}; Peripheral membrane protein {ECO:0000250|UniProtKB:P70582}; Cytoplasmic side {ECO:0000250|UniProtKB:P70582}. Nucleus membrane {ECO:0000250|UniProtKB:P70582}; Peripheral membrane protein {ECO:0000250|UniProtKB:P70582}; Nucleoplasmic side {ECO:0000250|UniProtKB:P70582}. Note=Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the transporter. {ECO:0000250|UniProtKB:P70582}.


uniprotID: P0DN81
geneSymbol: OR13C7
name: Olfactory receptor 13C7
length: 318
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q8NGV5
geneSymbol: OR13D1
reactome: R-HSA-381753;
name: Olfactory receptor 13D1 (Olfactory receptor OR9-15)
length: 346
go: ENSG00000179055;
snps: rs10991359 rs13294411 rs10820709 rs10761073
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H341
geneSymbol: OR51M1
reactome: R-HSA-381753;
name: Olfactory receptor 51M1 (Odorant receptor HOR5'beta7) (Olfactory receptor OR11-40)
length: 326
snps: rs1498467 rs1498468 rs1498469 rs9783355 rs2736531 rs10768907
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; sensory perception of smell [GO:0007608]


uniprotID: Q9Y530
geneSymbol: OARD1
pdb: 2EEE;2L8R;2LGR;4J5Q;4J5R;4J5S;
name: O-acetyl-ADP-ribose deacetylase 1 (EC 3.5.1.-)
length: 152
go: ENSG00000124596;
sequence:
MASSLNEDPEGSRITYVKGDLFACPKTDSLAHCISEDCRMGAGIAVLFKKKFGGVQELLNQQKKSGEVAVLKRDGRYIYYLITKKRASHKPTYENLQKSLEAMKSHCLKNGVTDLSMPRIGCGLDRLQWENVSAMIEEVFEATDIKITVYTL

opentargets:
deacetylase activity [GO:0019213]; purine nucleoside binding [GO:0001883]; purine nucleoside metabolic process [GO:0042278]


uniprotID: Q9H1B4
geneSymbol: NXF5
name: Nuclear RNA export factor 5 (TAP-like protein 1) (TAPL-1)
length: 397
go: ENSG00000126952;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA export from nucleus [GO:0006406]; multicellular organism development [GO:0007275]; poly(A)+ mRNA export from nucleus [GO:0016973]; RNA transport [GO:0050658]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=A; Synonyms=TAPL-1a; IsoId=Q9H1B4-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=B; Synonyms=TAPL-1b; IsoId=Q9H1B4-2; Sequence=VSP_003734, VSP_003737; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=C; Synonyms=TAPL-1c; IsoId=Q9H1B4-3; Sequence=VSP_003732, VSP_003733; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=D; Synonyms=TAPL-1d; IsoId=Q9H1B4-4; Sequence=VSP_003731, VSP_003734, VSP_003737; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=E; Synonyms=TAPL-1e; IsoId=Q9H1B4-5; Sequence=VSP_003731, VSP_003735, VSP_003736; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=F; IsoId=Q9H1B4-6; Sequence=VSP_043896; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly localized in the cytoplasm of cells and more particularly in the cell body and neurites of hippocampal neurons. Although nuclear localization is also observed. Not detected at nuclear rim.


uniprotID: Q8NGA8
geneSymbol: OR4F17
reactome: R-HSA-381753;
length: 305
go: ENSG00000176695;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 4F17 (Olfactory receptor 4F11) (Olfactory receptor 4F18) (Olfactory receptor 4F19)

sequence:


uniprotID: O60356
geneSymbol: NUPR1
sequence: MATFPPATSAPQQPPGPEDEDSSLDESDLYSLAHSYLGGGGRKGRTKREAAANTNRPSPGGHERKLVTKLQNSERKKRGARR
length: 82
go: ENSG00000176046;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10092851}.
name:
Nuclear protein 1 (Candidate of metastasis 1) (Nuclear transcriptional regulator protein 1) (Protein p8)

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; acute inflammatory response [GO:0002526]; cell proliferation [GO:0008283]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; male gonad development [GO:0008584]; negative regulation of cell cycle [GO:0045786]; negative regulation of fibroblast proliferation [GO:0048147]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein modification process [GO:0031401]; protein acetylation [GO:0006473]; protein-containing complex assembly [GO:0065003]; regulation of female gonad development [GO:2000194]; response to toxic substance [GO:0009636]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60356-1; Sequence=Displayed; Name=2; IsoId=O60356-2; Sequence=VSP_053816; Note=No experimental confirmation available.; 


uniprotID: O95156
geneSymbol: NXPH2
name: Neurexophilin-2
length: 264
go: ENSG00000144227;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; signaling receptor binding [GO:0005102]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q8NGC9
geneSymbol: OR11H4
reactome: R-HSA-381753;
name: Olfactory receptor 11H4 (Olfactory receptor OR14-36)
length: 324
go: ENSG00000176198;
snps: rs17277270
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; olfactory receptor activity [GO:0004984]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]


uniprotID: O95158
geneSymbol: NXPH4
name: Neurexophilin-4
length: 308
go: ENSG00000182379;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; signaling receptor binding [GO:0005102]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q9H255
geneSymbol: OR51E2
reactome: R-HSA-381753;
length: 320
go: ENSG00000167332;
name:
Olfactory receptor 51E2 (HPRAJ) (Olfactory receptor OR11-16) (Prostate-specific G-protein coupled receptor)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; cellular response to fatty acid [GO:0071398]; positive regulation of blood pressure [GO:0045777]; positive regulation of renin secretion into blood stream [GO:1900135]; steroid hormone mediated signaling pathway [GO:0043401]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23401498}; Multi-pass membrane protein {ECO:0000269|PubMed:23401498}.


uniprotID: Q8NGA6
geneSymbol: OR10H5
reactome: R-HSA-381753;
name: Olfactory receptor 10H5 (Olfactory receptor OR19-25) (Olfactory receptor OR19-26)
length: 315
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; olfactory receptor activity [GO:0004984]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]


uniprotID: Q8NGX1
geneSymbol: OR2T34
reactome: R-HSA-381753;
name: Olfactory receptor 2T34 (Olfactory receptor OR1-63)
length: 318
snps: rs1770107
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGT0
geneSymbol: OR13C9
reactome: R-HSA-381753;
name: Olfactory receptor 13C9 (Olfactory receptor OR9-13)
length: 318
snps: rs2900373 rs993658 rs10761054
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NJZ3
geneSymbol: OR6C65
reactome: R-HSA-381753;
name: Olfactory receptor 6C65
length: 312
snps: rs12424958 rs7971073
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P37198
geneSymbol: NUP62
pdb: 2H4D;5IJN;5IJO;
name: Nuclear pore glycoprotein p62 (62 kDa nucleoporin) (Nucleoporin Nup62)
length: 522
go: ENSG00000213024;
snps: rs3745489 rs2290772 rs1062798 rs121917865
sequence:

opentargets:
annulate lamellae [GO:0005642]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; Flemming body [GO:0090543]; mitotic spindle [GO:0072686]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nuclear pore central transport channel [GO:0044613]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; spindle pole [GO:0000922]; chromatin binding [GO:0003682]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; kinesin binding [GO:0019894]; phospholipid binding [GO:0005543]; PTB domain binding [GO:0051425]; receptor signaling complex scaffold activity [GO:0030159]; SH2 domain binding [GO:0042169]; structural constituent of nuclear pore [GO:0017056]; thyroid hormone receptor binding [GO:0046966]; ubiquitin binding [GO:0043130]; cell aging [GO:0007569]; cell death [GO:0008219]; cell surface receptor signaling pathway [GO:0007166]; centriole assembly [GO:0098534]; centrosome cycle [GO:0007098]; hormone-mediated signaling pathway [GO:0009755]; mitotic centrosome separation [GO:0007100]; mitotic metaphase plate congression [GO:0007080]; mRNA export from nucleus [GO:0006406]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of programmed cell death [GO:0043069]; negative regulation of Ras protein signal transduction [GO:0046580]; positive regulation of centriole replication [GO:0046601]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of mitotic cytokinetic process [GO:1903438]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of protein localization to centrosome [GO:1904781]; positive regulation of transcription, DNA-templated [GO:0045893]; protein heterotrimerization [GO:0070208]; protein import into nucleus [GO:0006606]; regulation of mitotic spindle organization [GO:0060236]; regulation of protein import into nucleus [GO:0042306]; regulation of Ras protein signal transduction [GO:0046578]; regulation of signal transduction [GO:0009966]; spermatogenesis [GO:0007283]; transcription, DNA-templated [GO:0006351]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:1915414}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:24107630}. Nucleus envelope {ECO:0000269|PubMed:24107630}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:24107630}. Note=Central region of the nuclear pore, within the transporter (PubMed:1915414). During mitotic cell division, it associates with the poles of the mitotic spindle (PubMed:24107630). {ECO:0000269|PubMed:1915414, ECO:0000269|PubMed:24107630}.


uniprotID: Q969Y0
geneSymbol: NXPE3
name: NXPE family member 3 (Protein FAM55C)
length: 559
go: ENSG00000144815;
opentargets: extracellular region [GO:0005576]
snps: rs3796277
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q86Y26
geneSymbol: NUTM1
name: NUT family member 1 (Nuclear protein in testis)
length: 1132
go: ENSG00000184507;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
snps: rs374230 rs16959028 rs17236868 rs2279683 rs2279684 rs2279685
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86Y26-1; Sequence=Displayed; Name=2; IsoId=Q86Y26-2; Sequence=VSP_029559, VSP_029560, VSP_029561; Name=3; IsoId=Q86Y26-3; Sequence=VSP_055644; Note=No experimental confirmation available.; Name=4; IsoId=Q86Y26-4; Sequence=VSP_055645; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17934517}. Nucleus {ECO:0000269|PubMed:17934517}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000269|PubMed:17934517}.


uniprotID: P58181
geneSymbol: OR10A3
reactome: R-HSA-381753;
name: Olfactory receptor 10A3 (HTPCRX12) (Olfactory receptor OR11-97)
length: 314
go: ENSG00000170683;
snps: rs16934214
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; sensory perception of smell [GO:0007608]


uniprotID: Q9UGF7
geneSymbol: OR12D3
reactome: R-HSA-381753;
name: Olfactory receptor 12D3 (Hs6M1-27) (Olfactory receptor OR6-27)
length: 316
go: ENSG00000112462;
snps: rs3749971 rs545611345 rs9380122
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGZ0
geneSymbol: OR2AJ1
reactome: R-HSA-381753;
name: Olfactory receptor 2AJ1
length: 328
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9ULI1
geneSymbol: NWD2
length: 1742
go: ENSG00000174145;
opentargets: unfolded protein binding [GO:0051082]; ribosomal large subunit biogenesis [GO:0042273]
snps: rs4634233
name:
NACHT and WD repeat domain-containing protein 2 (Leucine-rich repeat and WD repeat-containing protein KIAA1239)

sequence:


uniprotID: Q9H340
geneSymbol: OR51B6
reactome: R-HSA-381753;
name: Olfactory receptor 51B6 (Odorant receptor HOR5'beta6)
length: 312
go: ENSG00000176239;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

snps:
rs4910755 rs4910756 rs7483122 rs5006889 rs7479477 rs5006888 rs5006887 rs5006886 rs5006885 rs5006884 rs5006883 rs7106330 rs5024042 


uniprotID: Q9BZD4
geneSymbol: NUF2
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 2VE7;3IZ0;
name: Kinetochore protein Nuf2 (hNuf2) (hNuf2R) (hsNuf2) (Cell division cycle-associated protein 1)
length: 464
go: ENSG00000143228;
snps: rs11802875 rs16852767
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; condensed nuclear chromosome kinetochore [GO:0000778]; cytosol [GO:0005829]; membrane [GO:0016020]; Ndc80 complex [GO:0031262]; nucleus [GO:0005634]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; kinetochore organization [GO:0051383]; meiotic chromosome segregation [GO:0045132]; mitotic spindle organization [GO:0007052]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore. NDC80 is required for efficient kinetochore localization.


uniprotID: P58417
geneSymbol: NXPH1
name: Neurexophilin-1
length: 271
go: ENSG00000122584;
opentargets: extracellular region [GO:0005576]; signaling receptor binding [GO:0005102]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q8NGC7
geneSymbol: OR11H6
reactome: R-HSA-381753;
name: Olfactory receptor 11H6 (Olfactory receptor OR14-35)
length: 330
snps: rs10140652 rs9323693 rs12891553 rs17106351 rs17211285 rs17277221 rs17277228
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGE5
geneSymbol: OR10A7
reactome: R-HSA-381753;
name: Olfactory receptor 10A7 (Olfactory receptor OR12-6)
length: 316
snps: rs12578318
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: B2RN74
geneSymbol: OR11H12
name: Olfactory receptor 11H12
length: 326
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9BXS6
geneSymbol: NUSAP1
name: Nucleolar and spindle-associated protein 1 (NuSAP)
length: 441
go: ENSG00000137804;
snps: rs7178634 rs7178777
sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; mitotic spindle [GO:0072686]; nucleolus [GO:0005730]; spindle microtubule [GO:0005876]; DNA binding [GO:0003677]; microtubule binding [GO:0008017]; RNA binding [GO:0003723]; establishment of mitotic spindle localization [GO:0040001]; mitotic chromosome condensation [GO:0007076]; mitotic cytokinesis [GO:0000281]; mitotic sister chromatid segregation [GO:0000070]; positive regulation of mitotic nuclear division [GO:0045840]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q9BXS6-1; Sequence=Displayed; Name=2; IsoId=Q9BXS6-2; Sequence=VSP_027912; Name=3; IsoId=Q9BXS6-3; Sequence=VSP_027911, VSP_027912; Name=4; IsoId=Q9BXS6-4; Sequence=VSP_027910, VSP_027912; Name=5; IsoId=Q9BXS6-5; Sequence=VSP_027911; Name=6; IsoId=Q9BXS6-6; Sequence=VSP_027910; Note=No experimental confirmation available.; Name=7; IsoId=Q9BXS6-7; Sequence=VSP_046805, VSP_027912, VSP_046806; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Chromosome {ECO:0000250}. Note=Found in the cytoplasm and nucleolus during interphase and redistributes to the mitotic spindle in prometaphase (By similarity). Localizes to the mitotic spindle during anaphase and telophase then disappears from around the chromosomes during cytokinesis (By similarity). Localizes to multiple distinct regions of chromosomes throughout mitosis. {ECO:0000250, ECO:0000269|PubMed:17276916, ECO:0000269|PubMed:17618083}.


uniprotID: Q8NFH3
geneSymbol: NUP43
pdb: 4I79;5A9Q;
name: Nucleoporin Nup43 (Nup107-160 subcomplex subunit Nup43) (p42)
length: 380
go: ENSG00000120253;
location: SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex.
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; nuclear envelope [GO:0005635]; nuclear pore outer ring [GO:0031080]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mRNA export from nucleus [GO:0006406]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFH3-1; Sequence=Displayed; Name=2; IsoId=Q8NFH3-2; Sequence=VSP_056167; Note=No experimental confirmation available.; 


uniprotID: Q8N1F7
geneSymbol: NUP93
pdb: 5IJN;5IJO;
name: Nuclear pore complex protein Nup93 (93 kDa nucleoporin) (Nucleoporin Nup93)
length: 819
go: ENSG00000102900;
snps: rs145146218 rs17853288 rs145473779 rs757674160
sequence:

opentargets:
membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; structural constituent of nuclear pore [GO:0017056]; glomerular visceral epithelial cell development [GO:0072015]; glomerular visceral epithelial cell migration [GO:0090521]; mRNA export from nucleus [GO:0006406]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; nuclear envelope organization [GO:0006998]; nuclear pore complex assembly [GO:0051292]; poly(A)+ mRNA export from nucleus [GO:0016973]; positive regulation of SMAD protein signal transduction [GO:0060391]; protein import into nucleus [GO:0006606]; renal system development [GO:0072001]; SMAD protein signal transduction [GO:0060395]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1F7-1; Sequence=Displayed; Name=2; IsoId=Q8N1F7-2; Sequence=VSP_043117; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q66HC5}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q66HC5}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:9348540}. Nucleus envelope {ECO:0000269|PubMed:26878725, ECO:0000269|PubMed:9348540}. Note=Localizes at the nuclear basket and at or near the nuclear entry to the gated channel of the pore. {ECO:0000269|PubMed:9348540}.


uniprotID: Q6ZNB6
geneSymbol: NFXL1
name: NF-X1-type zinc finger protein NFXL1 (Ovarian zinc finger protein) (hOZFP)
length: 911
go: ENSG00000170448;
snps: rs12651301
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; 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 regulatory region sequence-specific DNA binding [GO:0000977]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZNB6-1; Sequence=Displayed; Name=2; IsoId=Q6ZNB6-2; Sequence=VSP_023410, VSP_023411; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8WUJ1
geneSymbol: CYB5D2
name: Neuferricin (Cytochrome b5 domain-containing protein 2)
length: 264
go: ENSG00000167740;
snps: rs200936057
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; heme binding [GO:0020037]; positive regulation of neuron differentiation [GO:0045666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUJ1-1; Sequence=Displayed; Name=2; IsoId=Q8WUJ1-3; Sequence=VSP_045028; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q8WWR8
geneSymbol: NEU4
reactome: R-HSA-1660662;R-HSA-4085001;
name: Sialidase-4 (EC 3.2.1.18) (N-acetyl-alpha-neuraminidase 4)
length: 484
go: ENSG00000204099;
snps: rs11545301
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; organelle inner membrane [GO:0019866]; exo-alpha-(2->3)-sialidase activity [GO:0052794]; exo-alpha-(2->6)-sialidase activity [GO:0052795]; exo-alpha-(2->8)-sialidase activity [GO:0052796]; exo-alpha-sialidase activity [GO:0004308]; ganglioside catabolic process [GO:0006689]; glycoprotein catabolic process [GO:0006516]; glycosphingolipid metabolic process [GO:0006687]; oligosaccharide catabolic process [GO:0009313]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWR8-1; Sequence=Displayed; Name=2; IsoId=Q8WWR8-2; Sequence=VSP_037491; Name=3; IsoId=Q8WWR8-3; Sequence=VSP_047123; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane; Peripheral membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Lysosome lumen. Note=According to PubMed:15213228, isoform 2 is soluble, N-glycosylated and found in the lumen of lysosomes. However, no signal sequence nor N-glycosylation site is predicted from the sequence.


uniprotID: Q9NQS3
geneSymbol: NECTIN3
reactome: R-HSA-418990;R-HSA-420597;
pdb: 4FOM;
length: 549
go: ENSG00000177707;
snps: rs15611
name:
Nectin-3 (CDw113) (Nectin cell adhesion molecule 3) (Poliovirus receptor-related protein 3) (CD antigen CD113)

sequence:

opentargets:
apical junction complex [GO:0043296]; cell-cell adherens junction [GO:0005913]; cell-cell contact zone [GO:0044291]; cell-cell junction [GO:0005911]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; adherens junction organization [GO:0034332]; establishment of protein localization to plasma membrane [GO:0061951]; fertilization [GO:0009566]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; lens morphogenesis in camera-type eye [GO:0002089]; protein localization to cell junction [GO:1902414]; retina morphogenesis in camera-type eye [GO:0060042]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQS3-1; Sequence=Displayed; Name=2; IsoId=Q9NQS3-2; Sequence=VSP_017435, VSP_017436; Note=No experimental confirmation available.; Name=3; IsoId=Q9NQS3-3; Sequence=VSP_046893, VSP_046894; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.


uniprotID: Q92982
geneSymbol: NINJ1
name: Ninjurin-1 (Nerve injury-induced protein 1)
length: 152
go: ENSG00000131669;
snps: rs2275848
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MDSGTEEYELNGGLPPGTPGSPDASPARWGWRHGPINVNHYASKKSAAESMLDIALLMANASQLKAVVEQGPSFAFYVPLVVLISISLVLQIGVGVLLIFLVKYDLNNPAKHAKLDFLNNLATGLVFIIVVVNIFITAFGVQKPLMDMAPQQ

opentargets:
integral component of membrane [GO:0016021]; cell adhesion [GO:0007155]; hyaloid vascular plexus regression [GO:1990384]; nervous system development [GO:0007399]; positive regulation of cell-matrix adhesion [GO:0001954]; tissue regeneration [GO:0042246]


uniprotID: Q5JS37
geneSymbol: NHLRC3
reactome: R-HSA-6798695;
name: NHL repeat-containing protein 3
length: 347
go: ENSG00000188811;
snps: rs9603498
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular region [GO:0005576]; ubiquitin protein ligase activity [GO:0061630]; neutrophil degranulation [GO:0043312]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JS37-1; Sequence=Displayed; Name=2; IsoId=Q5JS37-2; Sequence=VSP_042858; Note=No experimental confirmation available.; 


uniprotID: Q8IVV8
geneSymbol: NKAIN4
length: 208
go: ENSG00000101198;
snps: rs1129659 rs2236194 rs872808 rs11556207
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 (Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 4) (Protein FAM77A)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; regulation of sodium ion transport [GO:0002028]


uniprotID: Q6ZUT1
geneSymbol: NKAPD1
name: Uncharacterized protein NKAPD1 (NKAP domain containing protein 1)
length: 292
go: ENSG00000150776;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZUT1-1; Sequence=Displayed; Name=2; IsoId=Q6ZUT1-2; Sequence=VSP_022686; Name=3; IsoId=Q6ZUT1-3; Sequence=VSP_022685, VSP_022686; 


uniprotID: Q5C9Z4
geneSymbol: NOM1
name: Nucleolar MIF4G domain-containing protein 1 (SGD1 homolog)
length: 860
go: ENSG00000146909;
snps: rs6969990 rs6952214 rs12919 rs2302445 rs2302443 rs12919
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; hair follicle maturation [GO:0048820]; ribosomal small subunit biogenesis [GO:0042274]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15715967, ECO:0000269|PubMed:17965019}.


uniprotID: Q99784
geneSymbol: OLFM1
pdb: 4XAT;
name: Noelin (Neuronal olfactomedin-related ER localized protein) (Olfactomedin-1)
length: 485
go: ENSG00000130558;
sequence:

opentargets:
axon [GO:0030424]; axonal growth cone [GO:0044295]; cell [GO:0005623]; cell junction [GO:0030054]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; synapse [GO:0045202]; atrioventricular valve formation [GO:0003190]; cardiac epithelial to mesenchymal transition [GO:0060317]; negative regulation of gene expression [GO:0010629]; nervous system development [GO:0007399]; neuronal signal transduction [GO:0023041]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of gene expression [GO:0010628]; regulation of axon extension [GO:0030516]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q99784-1; Sequence=Displayed; Name=2; IsoId=Q99784-2; Sequence=VSP_003760, VSP_003761; Name=3; IsoId=Q99784-3; Sequence=VSP_003759; Name=4; Synonyms=AMY; IsoId=Q99784-4; Sequence=VSP_003759, VSP_003760, VSP_003761; Name=5; IsoId=Q99784-5; Sequence=VSP_055625; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:O88998}. Cell junction, synapse {ECO:0000250|UniProtKB:O88998}. Endoplasmic reticulum {ECO:0000250|UniProtKB:O88998}. Cell projection, axon {ECO:0000250|UniProtKB:O88998}. Perikaryon {ECO:0000250|UniProtKB:O88998}.


uniprotID: Q8N0W4
geneSymbol: NLGN4X
reactome: R-HSA-6794361;
pdb: 2WQZ;2XB6;3BE8;
name: Neuroligin-4, X-linked (Neuroligin X) (HNLX)
length: 816
go: ENSG00000146938;
snps: rs749477993
sequence:

opentargets:
asymmetric, glutamatergic, excitatory synapse [GO:0098985]; cell junction [GO:0030054]; cell surface [GO:0009986]; dendrite [GO:0030425]; excitatory synapse [GO:0060076]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; spanning component of membrane [GO:0089717]; symmetric, GABA-ergic, inhibitory synapse [GO:0098983]; synapse [GO:0045202]; cell adhesion molecule binding [GO:0050839]; chloride ion binding [GO:0031404]; neurexin family protein binding [GO:0042043]; protein homodimerization activity [GO:0042803]; scaffold protein binding [GO:0097110]; signaling receptor activity [GO:0038023]; adult behavior [GO:0030534]; brainstem development [GO:0003360]; cell-cell junction organization [GO:0045216]; cerebellum development [GO:0021549]; learning [GO:0007612]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of excitatory postsynaptic potential [GO:0090394]; neuron cell-cell adhesion [GO:0007158]; neuron differentiation [GO:0030182]; organ growth [GO:0035265]; postsynaptic membrane assembly [GO:0097104]; presynapse assembly [GO:0099054]; presynaptic membrane assembly [GO:0097105]; social behavior [GO:0035176]; synapse organization [GO:0050808]; synaptic vesicle endocytosis [GO:0048488]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N0W4-1; Sequence=Displayed; Name=2; IsoId=Q8N0W4-2; Sequence=VSP_013270; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density.


uniprotID: Q9UI40
geneSymbol: SLC24A2
reactome: R-HSA-425561;
length: 661
go: ENSG00000155886;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/potassium/calcium exchanger 2 (Na(+)/K(+)/Ca(2+)-exchange protein 2) (Retinal cone Na-Ca+K exchanger) (Solute carrier family 24 member 2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; calcium, potassium:sodium antiporter activity [GO:0008273]; protein dimerization activity [GO:0046983]; symporter activity [GO:0015293]; calcium ion transmembrane transport [GO:0070588]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; learning [GO:0007612]; long-term synaptic depression [GO:0060292]; long-term synaptic potentiation [GO:0060291]; memory [GO:0007613]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UI40-1; Sequence=Displayed; Name=2; IsoId=Q9UI40-2; Sequence=VSP_006164; 


uniprotID: Q8TD19
geneSymbol: NEK9
reactome: R-HSA-2980767;R-HSA-3301854;
pdb: 3ZKE;3ZKF;
length: 979
go: ENSG00000119638;
snps: rs879253775 rs10146482 rs142859694 rs36014869
name:
Serine/threonine-protein kinase Nek9 (EC 2.7.11.1) (Nercc1 kinase) (Never in mitosis A-related kinase 9) (NimA-related protein kinase 9) (NimA-related kinase 8) (Nek8)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; cell division [GO:0051301]; mitotic nuclear envelope disassembly [GO:0007077]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14660563}. Nucleus {ECO:0000269|PubMed:14660563}.


uniprotID: Q9Y221
geneSymbol: NIP7
reactome: R-HSA-6791226;
pdb: 1SQW;1T5Y;
name: 60S ribosome subunit biogenesis protein NIP7 homolog (KD93)
length: 180
go: ENSG00000132603;
sequence:
MRPLTEEETRVMFEKIAKYIGENLQLLVDRPDGTYCFRLHNDRVYYVSEKIMKLAANISGDKLVSLGTCFGKFTKTHKFRLHVTALDYLAPYAKYKVWIKPGAEQSFLYGNHVLKSGLGRITENTSQYQGVVVYSMADIPLGFGVAAKSTQDCRKVDPMAIVVFHQADIGEYVRHEETLT

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; preribosome, large subunit precursor [GO:0030687]; RNA binding [GO:0003723]; ribosomal large subunit biogenesis [GO:0042273]; ribosome assembly [GO:0042255]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y221-1; Sequence=Displayed; Name=2; IsoId=Q9Y221-2; Sequence=VSP_012094; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:22195017}.


uniprotID: Q5JPE7
geneSymbol: NOMO2
name: Nodal modulator 2 (pM5 protein 2)
length: 1267
snps: rs1062413 rs15984
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; protein-containing complex [GO:0032991]; carbohydrate binding [GO:0030246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JPE7-1; Sequence=Displayed; Name=2; IsoId=Q5JPE7-2; Sequence=VSP_013850; Note=No experimental confirmation available.; Name=3; IsoId=Q5JPE7-3; Sequence=VSP_053928, VSP_053929; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15257293, ECO:0000269|PubMed:17261586}; Single-pass membrane protein {ECO:0000269|PubMed:15257293, ECO:0000269|PubMed:17261586}.


uniprotID: P46087
geneSymbol: NOP2
reactome: R-HSA-6790901;R-HSA-8869496;
length: 812
go: ENSG00000111641;
snps: rs1128164
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase (EC 2.1.1.-) (Nucleolar protein 1) (Nucleolar protein 2 homolog) (Proliferating-cell nucleolar antigen p120) (Proliferation-associated nucleolar protein p120)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; rRNA (cytosine-C5-)-methyltransferase activity [GO:0009383]; positive regulation of cell proliferation [GO:0008284]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription by RNA polymerase II [GO:0006357]; ribosomal large subunit assembly [GO:0000027]; rRNA base methylation [GO:0070475]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P46087-1; Sequence=Displayed; Name=2; IsoId=P46087-2; Sequence=VSP_023494; Name=3; IsoId=P46087-3; Sequence=VSP_023494, VSP_045309; Name=4; IsoId=P46087-4; Sequence=VSP_045308; 


uniprotID: Q9C002
geneSymbol: NMES1
name: Normal mucosa of esophagus-specific gene 1 protein (Protein FOAP-11)
sequence: MSFFQLLMKRKELIPLVVFMTVAAGGASSFAVYSLWKTDVILDRKKNPEPWETVDPTVPQKLITINQQWKPIEELQNVQRVTK
length: 83
go: ENSG00000166920;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12209954}.
opentargets:
mitochondrial respiratory chain complex IV [GO:0005751]; nucleus [GO:0005634]; electron transport chain [GO:0022900]; proton transmembrane transport [GO:1902600]; response to bacterium [GO:0009617]


uniprotID: A8MVU1
geneSymbol: NCF1C
name: Putative neutrophil cytosol factor 1C (NCF-1C) (Putative SH3 and PX domain-containing protein 1C)
length: 366
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; NADPH oxidase complex [GO:0043020]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; superoxide-generating NADPH oxidase activator activity [GO:0016176]; superoxide-generating NADPH oxidase activity [GO:0016175]; respiratory burst [GO:0045730]; superoxide metabolic process [GO:0006801]


uniprotID: Q9Y2I6
geneSymbol: NINL
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Ninein-like protein
length: 1382
go: ENSG00000101004;
snps: rs6115203 rs34585177 rs13044759 rs379538 rs6115193 rs428801 rs35666277 rs41310175 rs17857107
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; microtubule [GO:0005874]; calcium ion binding [GO:0005509]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule anchoring at centrosome [GO:0034454]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=Q9Y2I6-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9Y2I6-2; Sequence=VSP_037883; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16254247}. Cytoplasm {ECO:0000269|PubMed:16254247}. Note=In interphase cells, NINL is transported to the centrosomes by the dynein-dynactin motor complex (PubMed:16254247). During centrosome maturation, PLK1 directly phosphorylates NINL resulting in its release into the cytoplasm (PubMed:16254247).


uniprotID: P07197
geneSymbol: NEFM
length: 916
go: ENSG00000104722;
snps: rs196864 rs196863
name:
Neurofilament medium polypeptide (NF-M) (160 kDa neurofilament protein) (Neurofilament 3) (Neurofilament triplet M protein)

sequence:

opentargets:
axon [GO:0030424]; intermediate filament cytoskeleton [GO:0045111]; neurofibrillary tangle [GO:0097418]; neurofilament [GO:0005883]; microtubule binding [GO:0008017]; structural constituent of cytoskeleton [GO:0005200]; axon development [GO:0061564]; neurofilament bundle assembly [GO:0033693]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07197-1; Sequence=Displayed; Name=2; IsoId=P07197-2; Sequence=VSP_046306; Note=No experimental confirmation available.; 


uniprotID: O94818
geneSymbol: NOL4
name: Nucleolar protein 4 (Nucleolar-localized protein)
length: 638
go: ENSG00000101746;
opentargets: nucleolus [GO:0005730]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:9813152, ECO:0000269|PubMed:9853615}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O94818-1; Sequence=Displayed; Name=2; IsoId=O94818-2; Sequence=VSP_010080; Name=3; IsoId=O94818-3; Sequence=VSP_043344; Note=No experimental confirmation available.; Name=4; IsoId=O94818-4; Sequence=VSP_045836; Note=No experimental confirmation available.; 


uniprotID: Q9Y3C1
geneSymbol: NOP16
name: Nucleolar protein 16 (HBV pre-S2 trans-regulated protein 3)
length: 178
go: ENSG00000048162;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
sequence:
MPKAKGKTRRQKFGYSVNRKRLNRNARRKAAPRIECSHIRHAWDHAKSVRQNLAEMGLAVDPNRAVPLRKRKVKAMEVDIEERPKELVRKPYVLNDLEAEASLPEKKGNTLSRDLIDYVRYMVENHGEDYKAMARDEKNYYQDTPKQIRSKINVYKRFYPAEWQDFLDSLQKRKMEVE

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; ribosomal large subunit biogenesis [GO:0042273]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y3C1-1; Sequence=Displayed; Name=2; IsoId=Q9Y3C1-2; Sequence=VSP_045583; Name=3; IsoId=Q9Y3C1-3; Sequence=VSP_057393; Note=No experimental confirmation available. {ECO:0000244|PubMed:28112733}; 


uniprotID: Q8NC60
geneSymbol: NOA1
name: Nitric oxide-associated protein 1
length: 698
go: ENSG00000084092;
snps: rs3733306 rs11553077
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; mitochondrial translation [GO:0032543]; regulation of cell death [GO:0010941]; regulation of cellular respiration [GO:0043457]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:19103604}; Peripheral membrane protein {ECO:0000269|PubMed:19103604}; Matrix side {ECO:0000269|PubMed:19103604}.


uniprotID: Q8NCF5
geneSymbol: NFATC2IP
pdb: 2JXX;2L76;3RD2;
length: 419
go: ENSG00000176953;
snps: rs7201257
name:
NFATC2-interacting protein (45 kDa NF-AT-interacting protein) (45 kDa NFAT-interacting protein) (Nuclear factor of activated T-cells, cytoplasmic 2-interacting protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cytokine production [GO:0001816]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCF5-1; Sequence=Displayed; Name=2; IsoId=Q8NCF5-2; Sequence=VSP_023932; Note=No experimental confirmation available.; Name=3; IsoId=Q8NCF5-3; Sequence=VSP_023931; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=TRAF1 is associated with a fraction of NFATC2IP in the cytoplasm and prevents its translocation to the nucleus. {ECO:0000250}.


uniprotID: P21452
geneSymbol: TACR2
reactome: R-HSA-380095;R-HSA-416476;
name: Substance-K receptor (SKR) (NK-2 receptor) (NK-2R) (Neurokinin A receptor) (Tachykinin receptor 2)
length: 398
go: ENSG00000075073;
snps: rs5030920 rs57500981 rs55953810 rs57900755 rs2229170 rs58692969
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sperm flagellum [GO:0036126]; sperm head [GO:0061827]; sperm midpiece [GO:0097225]; substance K receptor activity [GO:0016497]; tachykinin receptor activity [GO:0004995]; excretion [GO:0007588]; G protein-coupled receptor signaling pathway [GO:0007186]; intestine smooth muscle contraction [GO:0014827]; muscle contraction [GO:0006936]; negative regulation of luteinizing hormone secretion [GO:0033685]; operant conditioning [GO:0035106]; positive regulation of acetylcholine secretion, neurotransmission [GO:0014057]; positive regulation of flagellated sperm motility [GO:1902093]; positive regulation of uterine smooth muscle contraction [GO:0070474]; positive regulation of vascular permeability [GO:0043117]; prolactin secretion [GO:0070459]; response to electrical stimulus [GO:0051602]; tachykinin receptor signaling pathway [GO:0007217]


uniprotID: P08651
geneSymbol: NFIC
reactome: R-HSA-73980;R-HSA-749476;
length: 508
go: ENSG00000141905;
snps: rs10412720
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear factor 1 C-type (NF1-C) (Nuclear factor 1/C) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/C) (NF-I/C) (NFI-C) (TGGCA-binding protein)

sequence:

opentargets:
fibrillar center [GO:0001650]; 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 activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; DNA replication [GO:0006260]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=4; IsoId=P08651-1; Sequence=Displayed; Name=1; IsoId=P08651-2; Sequence=VSP_003552; Name=2; IsoId=P08651-3; Sequence=VSP_003552, VSP_003555, VSP_003556; Name=3; IsoId=P08651-4; Sequence=VSP_003552, VSP_003553, VSP_003555, VSP_003556; Name=5; IsoId=P08651-5; Sequence=VSP_003554; Name=6; IsoId=P08651-6; Sequence=VSP_047539; Note=No experimental confirmation available.; 


uniprotID: Q86WB0
geneSymbol: ZC3HC1
length: 502
go: ENSG00000091732;
snps: rs1464890 rs11556924
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12748172}.
name:
Nuclear-interacting partner of ALK (Nuclear-interacting partner of anaplastic lymphoma kinase) (hNIPA) (Zinc finger C3HC-type protein 1)

sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleus [GO:0005634]; protein kinase binding [GO:0019901]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell division [GO:0051301]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86WB0-1; Sequence=Displayed; Name=2; IsoId=Q86WB0-2; Sequence=VSP_015217; Note=No experimental confirmation available.; Name=3; IsoId=Q86WB0-3; Sequence=VSP_015218; Note=No experimental confirmation available.; 


uniprotID: P18615
geneSymbol: NELFE
pdb: 1X5P;2BZ2;2JX2;5OOB;6GML;
name: Negative elongation factor E (NELF-E) (RNA-binding protein RD)
length: 380
go: ENSG00000204356;
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;

sequence:

opentargets:
NELF complex [GO:0032021]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chromatin binding [GO:0003682]; RNA binding [GO:0003723]; negative regulation of mRNA polyadenylation [GO:1900364]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P18615-1; Sequence=Displayed; Name=2; IsoId=P18615-3; Sequence=VSP_056151; Note=No experimental confirmation available.; Name=3; IsoId=P18615-4; Sequence=VSP_056152; Note=No experimental confirmation available.; 


uniprotID: Q9BPW8
geneSymbol: NIPSNAP1
name: Protein NipSnap homolog 1 (NipSnap1)
length: 284
go: ENSG00000184117;
snps: rs1058646
sequence:

opentargets:
mitochondrion [GO:0005739]; synaptic membrane [GO:0097060]; neurotransmitter binding [GO:0042165]; sensory perception of pain [GO:0019233]


uniprotID: Q5H8A3
geneSymbol: NMS
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
name: Neuromedin-S
length: 153
go: ENSG00000204640;
snps: rs13411940
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MKHLRPQFPLILAIYCFCMLQIPSSGFPQPLADPSDGLDIVQLEQLAYCLSQWAPLSRQPKDNQDIYKRFLFHYSRTQEATHPVKTGFPPVHPLMHLAAKLANRRMKRILQRGSGTAAVDFTKKDHTATWGRPFFLFRPRNGRNIEDEAQIQW

opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotor rhythm [GO:0045475]; neuropeptide signaling pathway [GO:0007218]


uniprotID: P26718
geneSymbol: KLRK1
reactome: R-HSA-198933;R-HSA-2172127;R-HSA-2424491;
pdb: 1HYR;1KCG;1MPU;4PDC;4S0U;
length: 216
snps: rs2255336 rs2306182
name:
NKG2-D type II integral membrane protein (Killer cell lectin-like receptor subfamily K member 1) (NK cell receptor D) (NKG2-D-activating NK receptor) (CD antigen CD314)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; kinase binding [GO:0019900]; MHC class I protein binding [GO:0042288]; MHC class Ib receptor activity [GO:0032394]; protein homodimerization activity [GO:0042803]; signaling receptor activity [GO:0038023]; adaptive immune response [GO:0002250]; cell differentiation [GO:0030154]; cellular response to lipopolysaccharide [GO:0071222]; defense response to Gram-positive bacterium [GO:0050830]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of GTPase activity [GO:0034260]; negative regulation of natural killer cell chemotaxis [GO:2000502]; positive regulation of apoptotic process [GO:0043065]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of myeloid dendritic cell activation [GO:0030887]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=A number of isoforms are produced.; Name=1; IsoId=P26718-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10426994, ECO:0000269|PubMed:11015446, ECO:0000269|PubMed:15294961}; Single-pass type II membrane protein {ECO:0000269|PubMed:10426994, ECO:0000269|PubMed:11015446, ECO:0000269|PubMed:15294961}. Note=Colocalized with HCST on the cell surface.


uniprotID: Q14957
geneSymbol: GRIN2C
reactome: R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;R-HSA-6794361;R-HSA-8849932;
length: 1233
go: ENSG00000161509;
name:
Glutamate receptor ionotropic, NMDA 2C (GluN2C) (Glutamate [NMDA] receptor subunit epsilon-3) (N-methyl D-aspartate receptor subtype 2C) (NMDAR2C) (NR2C)

sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; glutamate-gated calcium ion channel activity [GO:0022849]; NMDA glutamate receptor activity [GO:0004972]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; brain development [GO:0007420]; calcium ion transmembrane import into cytosol [GO:0097553]; directional locomotion [GO:0033058]; excitatory chemical synaptic transmission [GO:0098976]; excitatory postsynaptic potential [GO:0060079]; glutamate receptor signaling pathway [GO:0007215]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; negative regulation of protein catabolic process [GO:0042177]; neuromuscular process controlling balance [GO:0050885]; protein localization to postsynaptic membrane [GO:1903539]; regulation of synaptic plasticity [GO:0048167]; response to wounding [GO:0009611]

drug:
DB00659;DB00289;DB00996;DB06741;DB00145;DB06738;DB00142;DB04896;DB00312;DB00454;DB01174;DB01708;DB00418;DB01520;

snps:
rs192960268 rs201199917 rs746610735 rs765016248 rs139011774 rs370546831 rs960726960 rs552196496 rs889196426 rs751640851 rs115230539 rs143282101 rs3744215 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26875626}; Multi-pass membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.


uniprotID: P48681
geneSymbol: NES
name: Nestin
length: 1621
go: ENSG00000132688;
snps: rs4278369 rs951781 rs2365718 rs2886443 rs17393797 rs3748570
sequence:

opentargets:
cytoplasm [GO:0005737]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; intermediate filament binding [GO:0019215]; structural molecule activity [GO:0005198]; brain development [GO:0007420]; central nervous system development [GO:0007417]; embryonic camera-type eye development [GO:0031076]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of catalytic activity [GO:0043086]; negative regulation of protein binding [GO:0032091]; positive regulation of intermediate filament depolymerization [GO:0030844]; positive regulation of neural precursor cell proliferation [GO:2000179]; stem cell proliferation [GO:0072089]


uniprotID: P01138
geneSymbol: NGF
pdb: 1SG1;1WWW;2IFG;4EDW;4EDX;4ZBN;5JZ7;
name: Beta-nerve growth factor (Beta-NGF)
length: 241
go: ENSG00000134259;
drug: DB01407;DB05892;
snps: rs6330 rs11466110 rs11466111 rs11466112
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-167021;R-HSA-167044;R-HSA-167060;R-HSA-170968;R-HSA-170984;R-HSA-177504;R-HSA-187042;R-HSA-187706;R-HSA-193648;R-HSA-193670;R-HSA-193681;R-HSA-198203;R-HSA-198745;R-HSA-205017;R-HSA-205025;R-HSA-205043;R-HSA-209543;R-HSA-209560;R-HSA-209563;

sequence:

opentargets:
axon [GO:0030424]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; endosome [GO:0005768]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; synaptic vesicle [GO:0008021]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; death receptor agonist activity [GO:0038177]; growth factor activity [GO:0008083]; metalloendopeptidase inhibitor activity [GO:0008191]; nerve growth factor receptor binding [GO:0005163]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of MAPKK activity [GO:0000186]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; memory [GO:0007613]; modulation of chemical synaptic transmission [GO:0050804]; 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 neuron apoptotic process [GO:0043524]; nerve development [GO:0021675]; nerve growth factor processing [GO:0032455]; nerve growth factor signaling pathway [GO:0038180]; neuron apoptotic process [GO:0051402]; neuron projection morphogenesis [GO:0048812]; neurotrophin TRK receptor signaling pathway [GO:0048011]; peripheral nervous system development [GO:0007422]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of apoptotic process [GO:0043065]; positive regulation of axonogenesis [GO:0050772]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of DNA binding [GO:0043388]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of Ras protein signal transduction [GO:0046579]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; regulation of neuron differentiation [GO:0045664]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]


uniprotID: Q9NPE2
geneSymbol: NGRN
length: 291
go: ENSG00000182768;
snps: rs11073922 rs16944113
name:
Neugrin (Mesenchymal stem cell protein DSC92) (Neurite outgrowth-associated protein) (Spinal cord-derived protein FI58G)

sequence:

opentargets:
extracellular region [GO:0005576]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; neuron differentiation [GO:0030182]; positive regulation of mitochondrial translation [GO:0070131]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPE2-2; Sequence=Displayed; Name=2; IsoId=Q9NPE2-3; Sequence=VSP_039710, VSP_039711; Note=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:11118320}. Secreted {ECO:0000305}. Mitochondrion membrane {ECO:0000269|PubMed:27667664}.


uniprotID: Q5VXU1
geneSymbol: NKAIN2
length: 208
go: ENSG00000188580;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 (Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2) (Protein FAM77B) (T-cell lymphoma breakpoint-associated target protein 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; regulation of sodium ion transport [GO:0002028]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VXU1-1; Sequence=Displayed; Name=2; IsoId=Q5VXU1-2; Sequence=VSP_021902; Note=No experimental confirmation available.; Name=3; IsoId=Q5VXU1-3; Sequence=VSP_029298; 


uniprotID: O15226
geneSymbol: NKRF
name: NF-kappa-B-repressing factor (NFkB-repressing factor) (Protein ITBA4) (Transcription factor NRF)
length: 690
go: ENSG00000186416;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15226-1; Sequence=Displayed; Name=2; IsoId=O15226-2; Sequence=VSP_047377; Note=No experimental confirmation available.; 


uniprotID: Q9HBL8
geneSymbol: NMRAL1
reactome: R-HSA-70635;
pdb: 2EXX;2WM3;2WMD;3DXF;3E5M;
name: NmrA-like family domain-containing protein 1
length: 299
go: ENSG00000153406;
drug: DB08784;
snps: rs11557236 rs3747582
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; identical protein binding [GO:0042802]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Note=Under normal redox growth conditions localizes in the cytoplasm and perinuclear region. Nuclear localization is promoted by increased intracellular nitric oxide and reduced NADPH/NADP(+) ratios.


uniprotID: O60391
geneSymbol: GRIN3B
length: 1043
go: ENSG00000116032;
name:
Glutamate receptor ionotropic, NMDA 3B (GluN3B) (N-methyl-D-aspartate receptor subtype 3B) (NMDAR3B) (NR3B)

sequence:

opentargets:
cell junction [GO:0030054]; neuronal cell body [GO:0043025]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; calcium channel activity [GO:0005262]; cation channel activity [GO:0005261]; glycine binding [GO:0016594]; ionotropic glutamate receptor activity [GO:0004970]; neurotransmitter binding [GO:0042165]; neurotransmitter receptor activity [GO:0030594]; ionotropic glutamate receptor signaling pathway [GO:0035235]; protein insertion into membrane [GO:0051205]; regulation of calcium ion transport [GO:0051924]

drug:
DB00659;DB00289;DB00996;DB06741;DB00145;DB01159;DB06738;DB00142;DB04896;DB01173;DB00312;DB01174;DB01708;DB00418;DB01520;

snps:
rs2240154 rs201484790 rs199717057 rs370645758 rs143106549 rs200777913 rs1043645806 rs144334537 rs935843296 rs4807399 rs2240157 rs1253903191 rs375104717 rs2240158 rs769335041 rs139187576 rs540348423 rs60621387 rs778377243 rs138448790 rs2285906 rs750024778 rs200419950 rs769956227 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=Requires the presence of GRIN1 to be targeted at the plasma membrane. {ECO:0000250}.


uniprotID: Q9NP64
geneSymbol: ZCCHC17
pdb: 2CQO;
length: 241
go: ENSG00000121766;
opentargets: nucleolus [GO:0005730]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12893261}.
name:
Nucleolar protein of 40 kDa (pNO40) (Pnn-interacting nucleolar protein) (Putative S1 RNA-binding domain protein) (PS1D protein) (Zinc finger CCHC domain-containing protein 17)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=hpNO40; IsoId=Q9NP64-1; Sequence=Displayed; Name=2; Synonyms=hpNO40s; IsoId=Q9NP64-2; Sequence=VSP_015308; Name=3; IsoId=Q9NP64-3; Sequence=VSP_054531; Note=No experimental confirmation available.; 


uniprotID: P26717
geneSymbol: KLRC2
reactome: R-HSA-2172127;R-HSA-2424491;
pdb: 2L35;
length: 231
snps: rs28403159
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
NKG2-C type II integral membrane protein (CD159 antigen-like family member C) (NK cell receptor C) (NKG2-C-activating NK receptor) (CD antigen CD159c)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; carbohydrate binding [GO:0030246]; MHC class I protein complex binding [GO:0023024]; protein antigen binding [GO:1990405]; transmembrane signaling receptor activity [GO:0004888]; cellular defense response [GO:0006968]; innate immune response [GO:0045087]; natural killer cell mediated immunity [GO:0002228]; signal transduction [GO:0007165]


uniprotID: Q13823
geneSymbol: GNL2
name: Nucleolar GTP-binding protein 2 (Autoantigen NGP-1)
length: 731
go: ENSG00000134697;
snps: rs12025870
sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; ribosome biogenesis [GO:0042254]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:21495629}.


uniprotID: O15399
geneSymbol: GRIN2D
reactome: R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;R-HSA-6794361;R-HSA-8849932;
length: 1336
go: ENSG00000105464;
snps: rs886040861 rs750543659 rs781567305 rs571334598 rs191119443
name:
Glutamate receptor ionotropic, NMDA 2D (GluN2D) (EB11) (Glutamate [NMDA] receptor subunit epsilon-4) (N-methyl D-aspartate receptor subtype 2D) (NMDAR2D) (NR2D)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; glutamate-gated calcium ion channel activity [GO:0022849]; ionotropic glutamate receptor activity [GO:0004970]; NMDA glutamate receptor activity [GO:0004972]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; adult locomotory behavior [GO:0008344]; brain development [GO:0007420]; calcium ion transmembrane import into cytosol [GO:0097553]; excitatory chemical synaptic transmission [GO:0098976]; excitatory postsynaptic potential [GO:0060079]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; regulation of sensory perception of pain [GO:0051930]; regulation of synaptic plasticity [GO:0048167]; startle response [GO:0001964]

drug:
DB00659;DB06151;DB00289;DB00996;DB06741;DB06738;DB00142;DB04896;DB01173;DB00312;DB00454;DB01174;DB01708;DB00418;DB01520;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:9489750}; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.


uniprotID: P08473
geneSymbol: MME
reactome: R-HSA-2022377;R-HSA-6798695;
pdb: 1DL9;1DMT;1QVD;1R1H;1R1I;1R1J;1Y8J;2QPJ;2YB9;4CTH;5JMY;6GID;
length: 750
go: ENSG00000196549;
drug: DB00616;DB11623;DB06655;DB02558;DB00886;DB02557;DB09292;DB05796;DB08626;
snps: rs879255651 rs138218277 rs199567914 rs777476150 rs200308207 rs879253752
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.
name:
Neprilysin (EC 3.4.24.11) (Atriopeptidase) (Common acute lymphocytic leukemia antigen) (CALLA) (Enkephalinase) (Neutral endopeptidase 24.11) (NEP) (Neutral endopeptidase) (Skin fibroblast elastase) (SFE) (CD antigen CD10)

sequence:

opentargets:
axon [GO:0030424]; brush border [GO:0005903]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection terminus [GO:0044306]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; endopeptidase activity [GO:0004175]; exopeptidase activity [GO:0008238]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; amyloid-beta clearance [GO:0097242]; amyloid-beta metabolic process [GO:0050435]; angiotensin maturation [GO:0002003]; cellular response to cytokine stimulus [GO:0071345]; cellular response to UV-A [GO:0071492]; cellular response to UV-B [GO:0071493]; creatinine metabolic process [GO:0046449]; kidney development [GO:0001822]; neutrophil degranulation [GO:0043312]; peptide metabolic process [GO:0006518]; proteolysis [GO:0006508]; replicative senescence [GO:0090399]; sensory perception of pain [GO:0019233]


uniprotID: P56556
geneSymbol: NDUFA6
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 128
go: ENSG00000184983;
drug: DB00157;
snps: rs1801311
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 (Complex I-B14) (CI-B14) (LYR motif-containing protein 6) (NADH-ubiquinone oxidoreductase B14 subunit)

sequence:
MAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVPNTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVVDLLVIKGKIELEETIKVWKQRTHVMRFFHETEAPRPKDFLSKFYVGHDP

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to oxidative stress [GO:0006979]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.


uniprotID: P15531
geneSymbol: NME1
reactome: R-HSA-499943;
pdb: 1JXV;1UCN;2HVD;2HVE;3L7U;4ENO;5UI4;
length: 152
go: ENSG00000239672;
drug: DB03491;DB02181;DB04542;DB04366;DB00718;DB02607;DB04068;DB04315;DB00709;DB02345;DB00300;DB03103;
snps: rs121917887
name:
Nucleoside diphosphate kinase A (NDK A) (NDP kinase A) (EC 2.7.4.6) (Granzyme A-activated DNase) (GAAD) (Metastasis inhibition factor nm23) (NM23-H1) (Tumor metastatic process-associated protein)

sequence:
MANCERTFIAIKPDGVQRGLVGEIIKRFEQKGFRLVGLKFMQASEDLLKEHYVDLKDRPFFAGLVKYMHSGPVVAMVWEGLNVVKTGRVMLGETNPADSKPGTIRGDFCIQVGRNIIHGSDSVESAEKEIGLWFHPEELVDYTSCAQNWIYE

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ruffle membrane [GO:0032587]; ATP binding [GO:0005524]; deoxyribonuclease activity [GO:0004536]; enzyme binding [GO:0019899]; gamma-tubulin binding [GO:0043015]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; intermediate filament binding [GO:0019215]; magnesium ion binding [GO:0000287]; nucleoside diphosphate kinase activity [GO:0004550]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; single-stranded DNA binding [GO:0003697]; cellular response to drug [GO:0035690]; cellular response to fatty acid [GO:0071398]; cellular response to glucose stimulus [GO:0071333]; CTP biosynthetic process [GO:0006241]; endocytosis [GO:0006897]; GTP biosynthetic process [GO:0006183]; hippocampus development [GO:0021766]; lactation [GO:0007595]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression [GO:0010629]; negative regulation of myeloid leukocyte differentiation [GO:0002762]; nucleobase-containing small molecule interconversion [GO:0015949]; positive regulation of DNA binding [GO:0043388]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of neuron projection development [GO:0010976]; regulation of apoptotic process [GO:0042981]; response to amine [GO:0014075]; response to cAMP [GO:0051591]; response to testosterone [GO:0033574]; UTP biosynthetic process [GO:0006228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=NM23-H1A; IsoId=P15531-1; Sequence=Displayed; Name=2; Synonyms=NM23-H1B; IsoId=P15531-2; Sequence=VSP_036707; Name=3; Synonyms=NM23-LV; IsoId=P22392-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an NME1-NME2 fusion protein.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16442775}. Nucleus {ECO:0000269|PubMed:16442775}. Note=Cell-cycle dependent nuclear localization which can be induced by interaction with Epstein-barr viral proteins or by degradation of the SET complex by GzmA.


uniprotID: Q9H9Q4
geneSymbol: NHEJ1
reactome: R-HSA-5693571;
pdb: 2QM4;2R9A;3Q4F;3RWR;3SR2;3W03;
name: Non-homologous end-joining factor 1 (Protein cernunnos) (XRCC4-like factor)
length: 299
go: ENSG00000187736;
snps: rs34689457 rs118204451 rs1056296 rs118204452 rs35270667
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16439204, ECO:0000269|PubMed:16439205}.
sequence:

opentargets:
DNA ligase IV complex [GO:0032807]; fibrillar center [GO:0001650]; nonhomologous end joining complex [GO:0070419]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA end binding [GO:0045027]; B cell differentiation [GO:0030183]; central nervous system development [GO:0007417]; double-strand break repair via nonhomologous end joining [GO:0006303]; positive regulation of ligase activity [GO:0051351]; response to ionizing radiation [GO:0010212]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9Q4-1; Sequence=Displayed; Name=2; IsoId=Q9H9Q4-2; Sequence=VSP_017689; Note=No experimental confirmation available.; 


uniprotID: Q9HAS0
geneSymbol: C17orf75
name: Protein Njmu-R1
length: 396
go: ENSG00000108666;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; trans-Golgi network [GO:0005802]; intracellular protein transport [GO:0006886]; vesicle tethering to Golgi [GO:0099041]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:29426865}. Cytoplasmic vesicle {ECO:0000269|PubMed:29426865}.


uniprotID: P25103
geneSymbol: TACR1
reactome: R-HSA-380095;R-HSA-416476;R-HSA-8856825;R-HSA-8856828;
pdb: 2KS9;2KSA;2KSB;
name: Substance-P receptor (SPR) (NK-1 receptor) (NK-1R) (Tachykinin receptor 1)
length: 407
go: ENSG00000115353;
drug: DB00673;DB05072;DB05421;DB05418;DB01221;DB09048;DB05466;DB05790;DB04894;
snps: rs200685841
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sperm flagellum [GO:0036126]; sperm head [GO:0061827]; sperm midpiece [GO:0097225]; substance P receptor activity [GO:0016496]; tachykinin receptor activity [GO:0004995]; detection of abiotic stimulus [GO:0009582]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of flagellated sperm motility [GO:1902093]; regulation of uterine smooth muscle contraction [GO:0070472]; response to pain [GO:0048265]; tachykinin receptor signaling pathway [GO:0007217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25103-1; Sequence=Displayed; Name=2; IsoId=P25103-3; Sequence=VSP_053824; Note=In contrast to Fong et al. data (PubMed:1310144), isoform 2 is not detected by PCR in any of 24 human tissues examined including the placenta (PubMed:11864635). {ECO:0000305|PubMed:11864635, ECO:0000305|PubMed:1310144}; 


uniprotID: Q8TAT5
geneSymbol: NEIL3
length: 605
go: ENSG00000109674;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12433996}.
name:
Endonuclease 8-like 3 (EC 3.2.2.-) (EC 4.2.99.18) (DNA glycosylase FPG2) (DNA glycosylase/AP lyase Neil3) (Endonuclease VIII-like 3) (Nei-like protein 3)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; bubble DNA binding [GO:0000405]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; damaged DNA binding [GO:0003684]; DNA N-glycosylase activity [GO:0019104]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; double-stranded DNA binding [GO:0003690]; single-stranded DNA binding [GO:0003697]; zinc ion binding [GO:0008270]; base-excision repair [GO:0006284]; nucleotide-excision repair [GO:0006289]

snps:
rs34007209 rs34112288 rs7689099 rs17064658 rs34193982 rs17064676 rs13112358 rs13112390 rs1876268 rs36005630 rs35418725 


uniprotID: Q8NFF2
geneSymbol: SLC24A4
reactome: R-HSA-425561;R-HSA-5619055;
length: 622
go: ENSG00000140090;
snps: rs587777537 rs587777536 rs4900130
name:
Sodium/potassium/calcium exchanger 4 (Na(+)/K(+)/Ca(2+)-exchange protein 4) (Solute carrier family 24 member 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; calcium, potassium:sodium antiporter activity [GO:0008273]; symporter activity [GO:0015293]; amelogenesis [GO:0097186]; calcium ion transmembrane transport [GO:0070588]; cellular calcium ion homeostasis [GO:0006874]; ion transport [GO:0006811]; response to stimulus [GO:0050896]; sensory perception of smell [GO:0007608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NFF2-1; Sequence=Displayed; Name=2; IsoId=Q8NFF2-2; Sequence=VSP_008369; Name=3; IsoId=Q8NFF2-3; Sequence=VSP_008372; Name=4; IsoId=Q8NFF2-4; Sequence=VSP_008370, VSP_008371; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8CGQ8}. Cell membrane {ECO:0000250|UniProtKB:Q8CGQ8}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8CGQ8}.


uniprotID: Q9UMX5
geneSymbol: NENF
length: 172
go: ENSG00000117691;
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250}.
name:
Neudesin (Cell immortalization-related protein 2) (Neuron-derived neurotrophic factor) (Protein GIG47) (Secreted protein of unknown function) (SPUF protein)

sequence:
MVGPAPRRRLRPLAALALVLALAPGLPTARAGQTPRPAERGPPVRLFTEEELARYGGEEEDQPIYLAVKGVVFDVTSGKEFYGRGAPYNALTGKDSTRGVAKMSLDPADLTHDTTGLTAKELEALDEVFTKVYKAKYPIVGYTARRILNEDGSPNLDFKPEDQPHFDIKDEF

opentargets:
extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; growth factor activity [GO:0008083]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; negative regulation of appetite [GO:0032099]; positive regulation of MAPK cascade [GO:0043410]


uniprotID: Q0D2K0
geneSymbol: NIPAL4
reactome: R-HSA-5223345;
length: 466
go: ENSG00000172548;
snps: rs775903553 rs199422217 rs370356566 rs375688767
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Magnesium transporter NIPA4 (Ichthyin) (NIPA-like protein 4) (Non-imprinted in Prader-Willi/Angelman syndrome region protein 4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; magnesium ion transmembrane transporter activity [GO:0015095]; magnesium ion transport [GO:0015693]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0D2K0-1; Sequence=Displayed; Name=2; IsoId=Q0D2K0-2; Sequence=VSP_036122; 


uniprotID: Q5SYE7
geneSymbol: NHSL1
name: NHS-like protein 1
length: 1610
go: ENSG00000135540;
opentargets: cell differentiation [GO:0030154]
snps: rs3734305 rs11540147
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SYE7-1; Sequence=Displayed; Name=2; IsoId=Q5SYE7-2; Sequence=VSP_040818, VSP_040819; 


uniprotID: Q9NVX2
geneSymbol: NLE1
name: Notchless protein homolog 1
length: 485
go: ENSG00000073536;
snps: rs1471615 rs7215209 rs75635495 rs2306513 rs2306512
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|Ref.5}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; hematopoietic stem cell homeostasis [GO:0061484]; inner cell mass cell differentiation [GO:0001826]; kidney development [GO:0001822]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001268]; negative regulation of mitotic cell cycle [GO:0045930]; Notch signaling pathway [GO:0007219]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; ribosomal large subunit assembly [GO:0000027]; skeletal system morphogenesis [GO:0048705]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVX2-1; Sequence=Displayed; Name=2; IsoId=Q9NVX2-2; Sequence=VSP_040555; 


uniprotID: Q9BR09
geneSymbol: NEURL2
reactome: R-HSA-8951664;
name: Neuralized-like protein 2
length: 285
go: ENSG00000124257;
snps: rs35342327
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; intracellular signal transduction [GO:0035556]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]


uniprotID: O14745
geneSymbol: SLC9A3R1
pdb: 1G9O;1GQ4;1GQ5;1I92;1SGH;2D10;2JXO;2KJD;2KRG;2M0T;2M0U;2M0V;2OZF;4JL7;4LMM;4MPA;4N6X;4PQW;4Q3H;
length: 358
go: ENSG00000109062;
snps: rs139622189 rs35910969 rs41282065 rs119486097
name:
Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (NHERF-1) (Ezrin-radixin-moesin-binding phosphoprotein 50) (EBP50) (Regulatory cofactor of Na(+)/H(+) exchanger) (Sodium-hydrogen exchanger regulatory factor 1) (Solute carrier family 9 isoform A3 regulatory factor 1)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; endomembrane system [GO:0012505]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; membrane [GO:0016020]; membrane raft [GO:0045121]; microvillus [GO:0005902]; microvillus membrane [GO:0031528]; perinuclear region of cytoplasm [GO:0048471]; ruffle [GO:0001726]; sperm midpiece [GO:0097225]; stereocilium tip [GO:0032426]; vesicle [GO:0031982]; beta-2 adrenergic receptor binding [GO:0031698]; beta-catenin binding [GO:0008013]; chloride channel regulator activity [GO:0017081]; dopamine receptor binding [GO:0050780]; growth factor receptor binding [GO:0070851]; myosin II binding [GO:0045159]; PDZ domain binding [GO:0030165]; phosphatase binding [GO:0019902]; protein N-terminus binding [GO:0047485]; protein self-association [GO:0043621]; protein-containing complex binding [GO:0044877]; protein-containing complex scaffold activity [GO:0032947]; signaling receptor binding [GO:0005102]; actin cytoskeleton organization [GO:0030036]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; auditory receptor cell stereocilium organization [GO:0060088]; bile acid secretion [GO:0032782]; cellular phosphate ion homeostasis [GO:0030643]; establishment of epithelial cell apical/basal polarity [GO:0045198]; establishment of Golgi localization [GO:0051683]; gland morphogenesis [GO:0022612]; glutathione transport [GO:0034635]; microvillus assembly [GO:0030033]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of sodium:proton antiporter activity [GO:0032416]; nuclear migration [GO:0007097]; phospholipase C-activating dopamine receptor signaling pathway [GO:0060158]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of ion transmembrane transport [GO:0034767]; protein localization to plasma membrane [GO:0072659]; protein-containing complex assembly [GO:0065003]; regulation of cell shape [GO:0008360]; regulation of cell size [GO:0008361]; regulation of excretion [GO:0044062]; regulation of protein kinase activity [GO:0045859]; regulation of sodium:proton antiporter activity [GO:0032415]; renal absorption [GO:0070293]; renal phosphate ion absorption [GO:0097291]; renal sodium ion transport [GO:0003096]; sensory perception of sound [GO:0007605]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14745-1; Sequence=Displayed; Name=2; IsoId=O14745-2; Sequence=VSP_055497; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Apical cell membrane {ECO:0000250}. Endomembrane system; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus. Note=Translocates from the cytoplasm to the apical cell membrane in a PODXL-dependent manner. Colocalizes with CFTR at the midpiece of sperm tail (By similarity). Colocalizes with actin in microvilli-rich apical regions of the syncytiotrophoblast. Found in microvilli, ruffling membrane and filopodia of HeLa cells. Present in lipid rafts of T-cells. {ECO:0000250}.


uniprotID: Q8NC67
geneSymbol: NETO2
length: 525
go: ENSG00000171208;
snps: rs2231983
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Neuropilin and tolloid-like protein 2 (Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; postsynaptic density [GO:0014069]; ionotropic glutamate receptor binding [GO:0035255]; regulation of kainate selective glutamate receptor activity [GO:2000312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NC67-1; Sequence=Displayed; Name=2; IsoId=Q8NC67-2; Sequence=VSP_012856, VSP_012857; Name=3; IsoId=Q8NC67-3; Sequence=VSP_053795; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9C056
geneSymbol: NKX6-2
name: Homeobox protein Nkx-6.2 (Homeobox protein NK-6 homolog B)
length: 277
go: ENSG00000148826;
snps: rs1131692048 rs2804003
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:D3Z4R4}.
sequence:

opentargets:
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]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; central nervous system myelination [GO:0022010]; endocrine pancreas development [GO:0031018]; negative regulation of cell fate commitment [GO:0010454]; negative regulation of glial cell differentiation [GO:0045686]; negative regulation of transcription, DNA-templated [GO:0045892]; neuromuscular process controlling balance [GO:0050885]; positive regulation of cell fate commitment [GO:0010455]; positive regulation of glial cell differentiation [GO:0045687]; regulation of myelination [GO:0031641]; regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification [GO:0021912]; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification [GO:0021913]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q4KMZ8
geneSymbol: NKAIN1
length: 207
go: ENSG00000084628;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 (Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 1) (Protein FAM77C)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATPase binding [GO:0051117]; regulation of sodium ion transport [GO:0002028]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4KMZ8-1; Sequence=Displayed; Name=2; IsoId=Q4KMZ8-3; Sequence=VSP_056113, VSP_056114; Note=No experimental confirmation available.; 


uniprotID: Q8NCW5
geneSymbol: NAXE
reactome: R-HSA-197264;
length: 288
go: ENSG00000163382;
snps: rs7516274 rs879255647 rs886041064
name:
NAD(P)H-hydrate epimerase (EC 5.1.99.6) (Apolipoprotein A-I-binding protein) (AI-BP) (NAD(P)HX epimerase) (YjeF N-terminal domain-containing protein 1) (YjeF_N1)

sequence:

opentargets:
cell body [GO:0044297]; cilium [GO:0005929]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; NADHX epimerase activity [GO:0052856]; NADPHX epimerase activity [GO:0052857]; nucleotide binding [GO:0000166]; protein homodimerization activity [GO:0042803]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; nicotinamide nucleotide metabolic process [GO:0046496]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCW5-1; Sequence=Displayed; Name=2; IsoId=Q8NCW5-2; Sequence=VSP_026417; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03159}. Secreted {ECO:0000255|HAMAP-Rule:MF_03159, ECO:0000269|PubMed:11991719}. Note=In sperm, secretion gradually increases during capacitation. {ECO:0000255|HAMAP-Rule:MF_03159}.


uniprotID: P26715
geneSymbol: KLRC1
reactome: R-HSA-198933;
pdb: 2RMX;2YU7;3BDW;3CDG;3CII;
length: 233
go: ENSG00000134545;
snps: rs2253849
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
NKG2-A/NKG2-B type II integral membrane protein (CD159 antigen-like family member A) (NK cell receptor A) (NKG2-A/B-activating NK receptor) (CD antigen CD159a)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; carbohydrate binding [GO:0030246]; MHC class I protein complex binding [GO:0023024]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=NKG2-A; IsoId=P26715-1; Sequence=Displayed; Name=NKG2-B; IsoId=P26715-2; Sequence=VSP_003062; 


uniprotID: O75376
geneSymbol: NCOR1
pdb: 2EQR;3H52;3KMZ;3N00;4MDD;4WVD;
name: Nuclear receptor corepressor 1 (N-CoR) (N-CoR1)
length: 2440
go: ENSG00000141027;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00624}.
reactome:
R-HSA-1251985;R-HSA-1368071;R-HSA-1989781;R-HSA-2122947;R-HSA-2151201;R-HSA-2173795;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;R-HSA-381340;R-HSA-400206;R-HSA-400253;R-HSA-5617472;

sequence:

opentargets:
cytosol [GO:0005829]; histone deacetylase complex [GO:0000118]; membrane [GO:0016020]; mitotic spindle [GO:0072686]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; nuclear hormone receptor binding [GO:0035257]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II regulatory region DNA binding [GO:0001012]; sequence-specific DNA binding [GO:0043565]; thyroid hormone receptor binding [GO:0046966]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; chromatin organization [GO:0006325]; circadian rhythm [GO:0007623]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of JNK cascade [GO:0046329]; negative regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903799]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of fatty acid transport [GO:2000191]; regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter [GO:0072362]; regulation of lipid metabolic process [GO:0019216]; regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter [GO:0072368]; spindle assembly [GO:0051225]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75376-1; Sequence=Displayed; Name=2; IsoId=O75376-2; Sequence=VSP_010207, VSP_010208; Name=3; Synonyms=b; IsoId=O75376-3; Sequence=VSP_046468, VSP_010207, VSP_046469, VSP_046470; Note=No experimental confirmation available.; 


uniprotID: O95631
geneSymbol: NTN1
reactome: R-HSA-373752;R-HSA-376172;R-HSA-418885;R-HSA-418886;R-HSA-418890;R-HSA-428542;
pdb: 4URT;6FKQ;
name: Netrin-1 (Epididymis tissue protein Li 131P)
length: 604
go: ENSG00000065320;
snps: rs531668666
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
basement membrane [GO:0005604]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; anterior/posterior axon guidance [GO:0033564]; apoptotic process [GO:0006915]; Cdc42 protein signal transduction [GO:0032488]; cell-cell adhesion [GO:0098609]; inner ear morphogenesis [GO:0042472]; mammary gland duct morphogenesis [GO:0060603]; negative regulation of axon extension [GO:0030517]; negative regulation of netrin-activated signaling pathway [GO:1902842]; neuron migration [GO:0001764]; nuclear migration [GO:0007097]; positive regulation of axon extension [GO:0045773]; positive regulation of cell motility [GO:2000147]; positive regulation of cell proliferation [GO:0008284]; Ras protein signal transduction [GO:0007265]; regulation of cell migration [GO:0030334]; regulation of synapse assembly [GO:0051963]; substrate-dependent cell migration, cell extension [GO:0006930]


uniprotID: O75306
geneSymbol: NDUFS2
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTC;5XTD;5XTH;5XTI;
length: 463
go: ENSG00000158864;
drug: DB00997;DB00157;
snps: rs11538340 rs121434427 rs16827493 rs121434428 rs11576415 rs121434429
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I-49kD) (CI-49kD) (NADH-ubiquinone oxidoreductase 49 kDa subunit)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; 4 iron, 4 sulfur cluster binding [GO:0051539]; electron transfer activity [GO:0009055]; metal ion binding [GO:0046872]; NAD binding [GO:0051287]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; quinone binding [GO:0048038]; ubiquitin protein ligase binding [GO:0031625]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75306-1; Sequence=Displayed; Name=2; IsoId=O75306-2; Sequence=VSP_046466; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:9585441}; Peripheral membrane protein {ECO:0000269|PubMed:12611891}; Matrix side {ECO:0000269|PubMed:12611891}.


uniprotID: Q8NHV4
geneSymbol: NEDD1
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Protein NEDD1 (Neural precursor cell expressed developmentally down-regulated protein 1) (NEDD-1)
length: 660
go: ENSG00000139350;
sequence:

opentargets:
apical part of cell [GO:0045177]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; pericentriolar material [GO:0000242]; spindle pole [GO:0000922]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NHV4-1; Sequence=Displayed; Name=2; IsoId=Q8NHV4-2; Sequence=VSP_043411; Note=No experimental confirmation available.; Name=3; IsoId=Q8NHV4-3; Sequence=VSP_053794; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:19029337, ECO:0000269|PubMed:27137183}.


uniprotID: Q8N323
geneSymbol: NXPE1
name: NXPE family member 1 (Protein FAM55A)
length: 547
go: ENSG00000095110;
opentargets: extracellular region [GO:0005576]
snps: rs10891692 rs34993124
location: SUBCELLULAR LOCATION: Secreted.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N323-1; Sequence=Displayed; Name=2; IsoId=Q8N323-2; Sequence=VSP_028872; 


uniprotID: Q5VV67
geneSymbol: PPRC1
reactome: R-HSA-2151201;
length: 1664
go: ENSG00000148840;
snps: rs17114388 rs17855877 rs118161359
name:
Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 (PGC-1-related coactivator) (PRC)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; mitochondrion organization [GO:0007005]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VV67-1; Sequence=Displayed; Name=2; IsoId=Q5VV67-2; Sequence=VSP_027229, VSP_027230, VSP_027231; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11340167}. Note=Colocalizes with NRF1. {ECO:0000250}.


