# annotation

uniprotID: Q8NGJ0
geneSymbol: OR5A1
reactome: R-HSA-381753;
name: Olfactory receptor 5A1 (OST181) (Olfactory receptor OR11-249)
length: 315
snps: rs17153732 rs6591536
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGZ4
geneSymbol: OR2G3
reactome: R-HSA-381753;
name: Olfactory receptor 2G3 (Olfactory receptor OR1-33)
length: 309
go: ENSG00000177476;
snps: rs6658792 rs12072304
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9NZP2
geneSymbol: OR6C2
reactome: R-HSA-381753;
name: Olfactory receptor 6C2 (HSA3)
length: 312
go: ENSG00000179695;
snps: rs11171466 rs11171467
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9NZP0
geneSymbol: OR6C3
reactome: R-HSA-381753;
name: Olfactory receptor 6C3 (HSA8)
length: 311
snps: rs4318060 rs11835321 rs11832940
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGL4
geneSymbol: OR5D13
reactome: R-HSA-381753;
name: Olfactory receptor 5D13 (Olfactory receptor OR11-142) (Olfactory receptor OR11-148)
length: 314
snps: rs297118 rs11230983 rs7124871
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q15620
geneSymbol: OR8B8
reactome: R-HSA-381753;
name: Olfactory receptor 8B8 (Olfactory receptor TPCR85) (Olfactory-like receptor JCG8)
length: 311
go: ENSG00000197125;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGT1
geneSymbol: OR2K2
reactome: R-HSA-381753;
name: Olfactory receptor 2K2 (HTPCRH06) (Olfactory receptor OR9-17)
length: 345
go: ENSG00000171133;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0C6T2
geneSymbol: OST4
pdb: 2LAT;
name: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4
sequence: MITDVQLAIFANMLGVSLFLLVVLYHYVAVNNPKKQE
length: 37
go: ENSG00000228474;
opentargets:
integral component of membrane [GO:0016021]; oligosaccharyltransferase complex [GO:0008250]; protein N-linked glycosylation via asparagine [GO:0018279]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305|PubMed:23606741}. Endoplasmic reticulum membrane; Single-pass type III membrane protein {ECO:0000305}. Note=The single transmembrane helix has a kink in the middle of the transmembrane span.


uniprotID: A0A2R8YFL7
geneSymbol: OOSP4A
name: Oocyte-secreted protein 4A
length: 184
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKISCVLGKLLMLFELIHGLQDLSITCSESWLQVKLRRTPLLNDLQPLQNELSLGIGCPVNMVEVDFFGFLYLLTFCGIRVSEHGVGILIESLIVYEPTNFDFNLHIPVSCYVQRRFPIILVMRGRENDSRRECRRSVGQHRSLSHELEDLEIRPRVSYVNSVPLLSYLIVSLPKCKNKAVHSG


uniprotID: P53370
geneSymbol: NUDT6
pdb: 3FXT;3H95;
length: 316
go: ENSG00000170917;
snps: rs12648093 rs1048201
name:
Nucleoside diphosphate-linked moiety X motif 6 (Nudix motif 6) (EC 3.6.1.-) (Antisense basic fibroblast growth factor) (Protein GFG)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ADP-ribose diphosphatase activity [GO:0047631]; NAD binding [GO:0051287]; NADH pyrophosphatase activity [GO:0035529]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell proliferation [GO:0008285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=B; IsoId=P53370-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=P53370-2; Sequence=VSP_003729; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion. Note=Subcellular location may vary between isoforms.


uniprotID: Q8NGI1
geneSymbol: OR56B2P
reactome: R-HSA-381753;
name: Putative olfactory receptor 56B2
length: 322
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF3
geneSymbol: OR51D1
reactome: R-HSA-381753;
name: Olfactory receptor 51D1 (Olfactory receptor OR11-14)
length: 324
snps: rs905871
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH04
geneSymbol: OR2T27
reactome: R-HSA-381753;
name: Olfactory receptor 2T27 (Olfactory receptor OR1-67)
length: 317
snps: rs1782242 rs28533004
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGP9
geneSymbol: OR5AR1
reactome: R-HSA-381753;
name: Olfactory receptor 5AR1 (Olfactory receptor OR11-209)
length: 310
snps: rs56067375
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; copper ion binding [GO:0005507]; 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: Q9UBU9
geneSymbol: NXF1
reactome: R-HSA-159227;R-HSA-159230;R-HSA-159231;R-HSA-159236;
pdb: 1FO1;1FT8;1GO5;1JKG;1JN5;1KOH;1KOO;1OAI;2Z5K;2Z5M;3RW6;3RW7;4WYK;
length: 619
go: ENSG00000162231;
name:
Nuclear RNA export factor 1 (Tip-associated protein) (Tip-associating protein) (mRNA export factor TAP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear inclusion body [GO:0042405]; nuclear pore [GO:0005643]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA export from nucleus [GO:0006406]; poly(A)+ mRNA export from nucleus [GO:0016973]; RNA export from nucleus [GO:0006405]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBU9-1; Sequence=Displayed; Name=2; IsoId=Q9UBU9-2; Sequence=VSP_041427, VSP_041428; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10924507, ECO:0000269|PubMed:19864460, ECO:0000269|PubMed:25662211}. Nucleus, nucleoplasm {ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:23826332}. Nucleus speckle {ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:23826332}. Cytoplasm {ECO:0000269|PubMed:10924507, ECO:0000269|PubMed:19324961, ECO:0000269|PubMed:19864460}. Note=Localized predominantly in the nucleoplasm and at both the nucleoplasmic and cytoplasmic faces of the nuclear pore complex. Shuttles between the nucleus and the cytoplasm. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. The association with the TREX complex seems to occur in regions surrounding nuclear speckles known as perispeckles (PubMed:23826332). Nucleus; nuclear rim (PubMed:25662211). {ECO:0000269|PubMed:23826332, ECO:0000269|PubMed:25662211}.


uniprotID: Q8NGZ3
geneSymbol: OR13G1
reactome: R-HSA-381753;
name: Olfactory receptor 13G1 (Olfactory receptor OR1-37)
length: 307
go: ENSG00000197437;
snps: rs28711149 rs1151640 rs28556931 rs28446289
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IF99
geneSymbol: OR10K2
reactome: R-HSA-381753;
name: Olfactory receptor 10K2 (Olfactory receptor OR1-4)
length: 312
go: ENSG00000180708;
snps: rs12240099
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGX6
geneSymbol: OR10R2
reactome: R-HSA-381753;
name: Olfactory receptor 10R2 (Olfactory receptor OR1-8)
length: 335
snps: rs3820678 rs6679056 rs1418843
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NMU1
geneSymbol: OR52A4P
reactome: R-HSA-381753;
name: Olfactory receptor 52A4
length: 304
snps: rs7947334 rs10837375 rs4426129 rs10837374
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF6
geneSymbol: OR10W1
reactome: R-HSA-381753;
name: Olfactory receptor 10W1 (Olfactory receptor OR11-236)
length: 305
go: ENSG00000172772;
snps: rs10792156
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGY0
geneSymbol: OR10X1
reactome: R-HSA-381753;
name: Olfactory receptor 10X1 (Olfactory receptor OR1-14)
length: 326
snps: rs863363 rs950164 rs7550131 rs16840360
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH55
geneSymbol: OR52E5
reactome: R-HSA-381753;
name: Olfactory receptor 52E5
length: 327
snps: rs17234326 rs16926732 rs7106300
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGK4
geneSymbol: OR52K1
reactome: R-HSA-381753;
name: Olfactory receptor 52K1 (Olfactory receptor OR11-8)
length: 314
go: ENSG00000196778;
snps: rs96489 rs331510
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGK3
geneSymbol: OR52K2
reactome: R-HSA-381753;
name: Olfactory receptor 52K2 (Olfactory receptor OR11-7)
length: 314
go: ENSG00000181963;
snps: rs11032296 rs331537 rs7934336
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q86UD1
geneSymbol: OAF
name: Out at first protein homolog (HCV NS5A-transactivated protein 13 target protein 2)
length: 273
go: ENSG00000184232;
snps: rs2508489 rs2508490
sequence:


uniprotID: Q15646
geneSymbol: OASL
reactome: R-HSA-877300;R-HSA-909733;
pdb: 1WH3;4XQ7;
length: 514
go: ENSG00000135114;
snps: rs35249920
name:
2'-5'-oligoadenylate synthase-like protein (2'-5'-OAS-related protein) (2'-5'-OAS-RP) (59 kDa 2'-5'-oligoadenylate synthase-like protein) (Thyroid receptor-interacting protein 14) (TR-interacting protein 14) (TRIP-14) (p59 OASL) (p59OASL)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; RNA binding [GO:0003723]; thyroid hormone receptor binding [GO:0046966]; transferase activity [GO:0016740]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of viral genome replication [GO:0045071]; regulation of ribonuclease activity [GO:0060700]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=p56; Synonyms=OASL a; IsoId=Q15646-1; Sequence=Displayed; Name=p30; IsoId=Q15646-2; Sequence=VSP_003743, VSP_003744; Note=No experimental confirmation available.; Name=3; Synonyms=OASL d; IsoId=Q15646-3; Sequence=VSP_046572; Note=Has antiviral activity against RNA viruses.; 

location:
SUBCELLULAR LOCATION: Isoform p56: Nucleus, nucleolus. Cytoplasm.; SUBCELLULAR LOCATION: Isoform p30: Cytoplasm.


uniprotID: Q16633
geneSymbol: POU2AF1
pdb: 1CQT;
length: 256
go: ENSG00000110777;
snps: rs1042750 rs1042751
location: SUBCELLULAR LOCATION: Nucleus.
name:
POU domain class 2-associating factor 1 (B-cell-specific coactivator OBF-1) (BOB-1) (OCA-B) (OCT-binding factor 1)

sequence:

opentargets:
RNA polymerase II transcription factor complex [GO:0090575]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; humoral immune response [GO:0006959]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]


uniprotID: P36957
geneSymbol: DLST
reactome: R-HSA-389661;R-HSA-71064;R-HSA-71403;
length: 453
go: ENSG00000119689;
name:
Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (EC 2.3.1.61) (2-oxoglutarate dehydrogenase complex component E2) (OGDC-E2) (Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex) (E2K)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; oxoglutarate dehydrogenase complex [GO:0045252]; dihydrolipoyllysine-residue succinyltransferase activity [GO:0004149]; 2-oxoglutarate metabolic process [GO:0006103]; generation of precursor metabolites and energy [GO:0006091]; histone succinylation [GO:0106077]; L-lysine catabolic process to acetyl-CoA via saccharopine [GO:0033512]; succinyl-CoA metabolic process [GO:0006104]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P36957-1; Sequence=Displayed; Name=2; IsoId=P36957-2; Sequence=VSP_056439, VSP_056440; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:29211711}. Nucleus {ECO:0000269|PubMed:29211711}. Note=Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation. {ECO:0000269|PubMed:29211711}.


uniprotID: Q9Y2G5
geneSymbol: POFUT2
reactome: R-HSA-5173214;
pdb: 4AP5;4AP6;
length: 429
go: ENSG00000186866;
name:
GDP-fucose protein O-fucosyltransferase 2 (EC 2.4.1.221) (Peptide-O-fucosyltransferase 2) (O-FucT-2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; peptide-O-fucosyltransferase activity [GO:0046922]; fucose metabolic process [GO:0006004]; mesoderm formation [GO:0001707]; protein O-linked fucosylation [GO:0036066]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of gene expression [GO:0010468]; regulation of secretion [GO:0051046]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=C; IsoId=Q9Y2G5-3; Sequence=Displayed; Name=A; IsoId=Q9Y2G5-1; Sequence=VSP_003832; Name=B; IsoId=Q9Y2G5-2; Sequence=VSP_003833, VSP_003834; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:15233996}. Golgi apparatus {ECO:0000269|PubMed:15233996}. Note=Mainly located in the endoplasmic reticulum.


uniprotID: P29803
geneSymbol: PDHA2
reactome: R-HSA-204174;R-HSA-389661;R-HSA-5362517;R-HSA-70268;
length: 388
go: ENSG00000163114;
drug: DB00157;
snps: rs17024795
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (EC 1.2.4.1) (PDHE1-A type II)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; pyruvate dehydrogenase complex [GO:0045254]; pyruvate dehydrogenase (acetyl-transferring) activity [GO:0004739]; pyruvate dehydrogenase (NAD+) activity [GO:0034604]; glucose metabolic process [GO:0006006]; pyruvate metabolic process [GO:0006090]; tricarboxylic acid cycle [GO:0006099]


uniprotID: O60813
geneSymbol: PRAMEF11
name: PRAME family member 11
length: 478
go: ENSG00000239810;
sequence:


uniprotID: Q13516
geneSymbol: OLIG2
length: 323
go: ENSG00000205927;
name:
Oligodendrocyte transcription factor 2 (Oligo2) (Class B basic helix-loop-helix protein 1) (bHLHb1) (Class E basic helix-loop-helix protein 19) (bHLHe19) (Protein kinase C-binding protein 2) (Protein kinase C-binding protein RACK17)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; protein homodimerization activity [GO:0042803]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; myelination [GO:0042552]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron fate commitment [GO:0048663]; positive regulation of oligodendrocyte differentiation [GO:0048714]; spinal cord motor neuron differentiation [GO:0021522]; spinal cord oligodendrocyte cell fate specification [GO:0021530]; thalamus development [GO:0021794]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}. Cytoplasm {ECO:0000250}. Note=The NLS contained in the bHLH domain could be masked in the native form and translocation to the nucleus could be mediated by interaction either with class E bHLH partner protein or with NKX2-2. {ECO:0000250}.


uniprotID: P11177
geneSymbol: PDHB
reactome: R-HSA-204174;R-HSA-389661;R-HSA-5362517;R-HSA-70268;
pdb: 1NI4;2OZL;3EXE;3EXF;3EXG;3EXH;3EXI;6CER;6CFO;
name: Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (PDHE1-B) (EC 1.2.4.1)
length: 359
go: ENSG00000168291;
drug: DB00157;DB00119;
snps: rs28935769 rs28933391
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pyruvate dehydrogenase complex [GO:0045254]; pyruvate dehydrogenase (acetyl-transferring) activity [GO:0004739]; pyruvate dehydrogenase activity [GO:0004738]; acetyl-CoA biosynthetic process from pyruvate [GO:0006086]; glucose metabolic process [GO:0006006]; mitochondrial acetyl-CoA biosynthetic process from pyruvate [GO:0061732]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P11177-1; Sequence=Displayed; Name=2; IsoId=P11177-2; Sequence=VSP_012675; Note=No experimental confirmation available.; Name=3; IsoId=P11177-3; Sequence=VSP_043364; Note=No experimental confirmation available.; 


uniprotID: O60831
geneSymbol: PRAF2
name: PRA1 family protein 2
length: 178
go: ENSG00000243279;
snps: rs34565429
sequence:
MSEVRLPPLRALDDFVLGSARLAAPDPCDPQRWCHRVINNLLYYQTNYLLCFGIGLALAGYVRPLHTLLSALVVAVALGVLVWAAETRAAVRRCRRSHPAACLAAVLAVGLLVLWVAGGACTFLFSIAGPVLLILVHASLRLRNLKNKIENKIESIGLKRTPMGLLLEALGQEQEAGS

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; L-glutamate transmembrane transport [GO:0015813]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000305|PubMed:17975142}; Multi-pass membrane protein {ECO:0000305|PubMed:17975142}.


uniprotID: Q86YV5
geneSymbol: PRAG1
pdb: 5VE6;
length: 1406
go: ENSG00000275342;
name:
Inactive tyrosine-protein kinase PRAG1 (PEAK1-related kinase-activating pseudokinase 1) (Pragmin) (Sugen kinase 223) (SgK223)

sequence:

opentargets:
cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein kinase activity [GO:0004672]; cell migration [GO:0016477]; negative regulation of neuron projection development [GO:0010977]; positive regulation of Rho protein signal transduction [GO:0035025]; protein phosphorylation [GO:0006468]; regulation of cell motility [GO:2000145]; regulation of cell shape [GO:0008360]; regulation of Notch signaling pathway [GO:0008593]

snps:
rs55764617 rs56290960 rs34346032 rs3896980 rs4840955 rs4840953 rs55994745 rs56351643 rs56207906 rs56215812 rs56289289 rs28533138 rs12549973 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:D3ZMK9}. Cell junction, focal adhesion {ECO:0000269|PubMed:27116701}. Nucleus {ECO:0000250|UniProtKB:Q571I4}. Note=Colocalized with NOTCH1 in the nucleus. {ECO:0000250|UniProtKB:Q571I4}.


uniprotID: O95521
geneSymbol: PRAMEF1
name: PRAME family member 1
length: 474
go: ENSG00000116721;
snps: rs1063767 rs1063769 rs1769774 rs1063776 rs5003730 rs1063795 rs1052908
sequence:


uniprotID: O95803
geneSymbol: NDST3
reactome: R-HSA-2022928;
length: 873
go: ENSG00000164100;
name:
Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 (EC 2.8.2.8) (Glucosaminyl N-deacetylase/N-sulfotransferase 3) (NDST-3) (hNDST-3) (N-heparan sulfate sulfotransferase 3) (N-HSST 3) [Includes: Heparan sulfate N-deacetylase 3 (EC 3.-.-.-); Heparan sulfate N-sulfotransferase 3 (EC 2.8.2.-)]

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine N-sulfotransferase activity [GO:0015016]; heparan sulfate N-acetylglucosaminyltransferase activity [GO:0042328]; hydrolase activity [GO:0016787]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0015014]; heparin biosynthetic process [GO:0030210]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95803-1; Sequence=Displayed; Name=2; IsoId=O95803-2; Sequence=VSP_017405, VSP_017406; Note=No experimental confirmation available.; Name=3; IsoId=O95803-3; Sequence=VSP_054350, VSP_054351, VSP_054352; Note=No experimental confirmation available.; 


uniprotID: Q969S2
geneSymbol: NEIL2
reactome: R-HSA-110328;R-HSA-110329;R-HSA-5649702;
pdb: 1VZP;
length: 332
go: ENSG00000154328;
snps: rs8191611 rs8191613 rs8191612 rs8191664 rs8191666
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12097317}.
name:
Endonuclease 8-like 2 (EC 3.2.2.-) (EC 4.2.99.18) (DNA glycosylase/AP lyase Neil2) (DNA-(apurinic or apyrimidinic site) lyase Neil2) (Endonuclease VIII-like 2) (Nei homolog 2) (NEH2) (Nei-like protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle microtubule [GO:0005876]; 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]; microtubule binding [GO:0008017]; zinc ion binding [GO:0008270]; base-excision repair [GO:0006284]; depyrimidination [GO:0045008]; nucleotide-excision repair [GO:0006289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q969S2-1; Sequence=Displayed; Name=2; IsoId=Q969S2-2; Sequence=VSP_012209; Note=No experimental confirmation available.; Name=3; IsoId=Q969S2-3; Sequence=VSP_012208; Note=No experimental confirmation available.; Name=4; IsoId=Q969S2-4; Sequence=VSP_043343; Note=No experimental confirmation available.; 


uniprotID: Q96E22
geneSymbol: NUS1
reactome: R-HSA-446199;
length: 293
go: ENSG00000153989;
snps: rs28362518 rs28362519 rs1052237 rs1052239 rs1132147 rs886037858
name:
Dehydrodolichyl diphosphate synthase complex subunit NUS1 (EC 2.5.1.87) (Cis-prenyltransferase subunit NgBR) (Nogo-B receptor) (NgBR) (Nuclear undecaprenyl pyrophosphate synthase 1 homolog)

sequence:

opentargets:
dehydrodolichyl diphosphate synthase complex [GO:1904423]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; dehydrodolichyl diphosphate synthase activity [GO:0045547]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; cholesterol homeostasis [GO:0042632]; dolichol biosynthetic process [GO:0019408]; dolichyl diphosphate biosynthetic process [GO:0006489]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of nitric-oxide synthase activity [GO:0051000]; protein mannosylation [GO:0035268]; regulation of intracellular cholesterol transport [GO:0032383]; vascular endothelial growth factor signaling pathway [GO:0038084]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19723497, ECO:0000269|PubMed:21572394}; Multi-pass membrane protein {ECO:0000303|PubMed:21572394}. Note=Colocalizes with Nogo-B during VEGF and wound healing angiogenesis. {ECO:0000269|PubMed:19723497}.


uniprotID: Q92832
geneSymbol: NELL1
name: Protein kinase C-binding protein NELL1 (NEL-like protein 1) (Nel-related protein 1)
length: 810
go: ENSG00000165973;
snps: rs8176785 rs35809043 rs11820003 rs8176786
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; nuclear envelope [GO:0005635]; perinuclear region of cytoplasm [GO:0048471]; calcium ion binding [GO:0005509]; cell differentiation [GO:0030154]; negative regulation of cellular protein catabolic process [GO:1903363]; negative regulation of osteoblast proliferation [GO:0033689]; nervous system development [GO:0007399]; positive regulation of bone mineralization [GO:0030501]; positive regulation of osteoblast differentiation [GO:0045669]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92832-1; Sequence=Displayed; Name=2; IsoId=Q92832-2; Sequence=VSP_039954; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21723284}. Nucleus envelope {ECO:0000269|PubMed:21723284}. Secreted {ECO:0000250}. Note=Colocalizes with ATRAID on the nuclear envelope and the perinuclear region.


uniprotID: Q9HB89
geneSymbol: NMUR1
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
name: Neuromedin-U receptor 1 (NMU-R1) (G-protein coupled receptor 66) (G-protein coupled receptor FM-3)
length: 426
go: ENSG00000171596;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuromedin U binding [GO:0042924]; neuromedin U receptor activity [GO:0001607]; neuropeptide receptor activity [GO:0008188]; activation of phospholipase C activity [GO:0007202]; calcium ion transport [GO:0006816]; calcium-mediated signaling [GO:0019722]; chloride transport [GO:0006821]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate-mediated signaling [GO:0048016]; neuropeptide signaling pathway [GO:0007218]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; smooth muscle contraction [GO:0006939]


uniprotID: Q9Y2X3
geneSymbol: NOP58
reactome: R-HSA-4570464;R-HSA-6790901;R-HSA-6791226;
name: Nucleolar protein 58 (Nucleolar protein 5)
length: 529
go: ENSG00000055044;
snps: rs34748654 rs34458926 rs35900977 rs34523815
location: SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus, nucleoplasm {ECO:0000305}.
sequence:

opentargets:
box C/D snoRNP complex [GO:0031428]; Cajal body [GO:0015030]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pre-snoRNP complex [GO:0070761]; small nucleolar ribonucleoprotein complex [GO:0005732]; small-subunit processome [GO:0032040]; ATPase binding [GO:0051117]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; TFIID-class transcription factor complex binding [GO:0001094]; rRNA processing [GO:0006364]; snoRNA localization [GO:0048254]


uniprotID: Q8NA29
geneSymbol: MFSD2A
reactome: R-HSA-1483191;
length: 543
go: ENSG00000168389;
snps: rs1057517688 rs1057517689 rs1057519087
name:
Sodium-dependent lysophosphatidylcholine symporter 1 (NLS1) (Sodium-dependent LPC symporter 1) (Major facilitator superfamily domain-containing protein 2A)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; fatty acid transmembrane transporter activity [GO:0015245]; lysophospholipid transporter activity [GO:0051978]; phospholipid transporter activity [GO:0005548]; symporter activity [GO:0015293]; establishment of blood-brain barrier [GO:0060856]; fatty acid transport [GO:0015908]; hippocampus development [GO:0021766]; lipid transport across blood brain barrier [GO:1990379]; lysophospholipid transport [GO:0051977]; phosphatidylcholine biosynthetic process [GO:0006656]; transcytosis [GO:0045056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NA29-1; Sequence=Displayed; Name=2; IsoId=Q8NA29-2; Sequence=VSP_022539; Name=3; IsoId=Q8NA29-3; Sequence=VSP_022540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26005868}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9DA75}; Multi-pass membrane protein {ECO:0000255}. Note=Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane (PubMed:21677192). {ECO:0000269|PubMed:21677192}.


uniprotID: O00567
geneSymbol: NOP56
reactome: R-HSA-390471;R-HSA-6790901;R-HSA-6791226;
name: Nucleolar protein 56 (Nucleolar protein 5A)
length: 594
go: ENSG00000101361;
snps: rs2273137 rs6753 rs5856
sequence:

opentargets:
box C/D snoRNP complex [GO:0031428]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; pre-snoRNP complex [GO:0070761]; small nucleolar ribonucleoprotein complex [GO:0005732]; small-subunit processome [GO:0032040]; cadherin binding [GO:0045296]; histone methyltransferase binding [GO:1990226]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:12777385, ECO:0000269|PubMed:9372940}. Cytoplasm {ECO:0000250|UniProtKB:Q9D6Z1}. Nucleus, nucleoplasm {ECO:0000305|PubMed:15574333}.


uniprotID: P35228
geneSymbol: NOS2
reactome: R-HSA-1222556;R-HSA-392154;R-HSA-6785807;R-HSA-9033241;
pdb: 1NSI;2LL6;2NSI;3E7G;3EJ8;3HR4;4CX7;4NOS;5TP6;5XN3;
length: 1153
go: ENSG00000007171;
snps: rs3730017 rs2297518 rs769900089 rs28944173 rs28944201
name:
Nitric oxide synthase, inducible (EC 1.14.13.39) (Hepatocyte NOS) (HEP-NOS) (Inducible NO synthase) (Inducible NOS) (iNOS) (NOS type II) (Peptidyl-cysteine S-nitrosylase NOS2)

sequence:

opentargets:
cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; arginine binding [GO:0034618]; calmodulin binding [GO:0005516]; flavin adenine dinucleotide binding [GO:0050660]; FMN binding [GO:0010181]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; NADP binding [GO:0050661]; NADPH-hemoprotein reductase activity [GO:0003958]; nitric-oxide synthase activity [GO:0004517]; oxidoreductase activity [GO:0016491]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; tetrahydrobiopterin binding [GO:0034617]; arginine catabolic process [GO:0006527]; cell redox homeostasis [GO:0045454]; cellular response to drug [GO:0035690]; cellular response to interferon-gamma [GO:0071346]; cellular response to lipopolysaccharide [GO:0071222]; circadian rhythm [GO:0007623]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; innate immune response in mucosa [GO:0002227]; interleukin-6 secretion [GO:0072604]; interleukin-8 secretion [GO:0072606]; negative regulation of blood pressure [GO:0045776]; negative regulation of gene expression [GO:0010629]; negative regulation of protein catabolic process [GO:0042177]; nitric oxide biosynthetic process [GO:0006809]; nitric oxide mediated signal transduction [GO:0007263]; peptidyl-cysteine S-nitrosylation [GO:0018119]; positive regulation of guanylate cyclase activity [GO:0031284]; positive regulation of killing of cells of other organism [GO:0051712]; positive regulation of leukocyte mediated cytotoxicity [GO:0001912]; prostaglandin secretion [GO:0032310]; protein targeting to peroxisome [GO:0006625]; regulation of cell proliferation [GO:0042127]; regulation of cellular respiration [GO:0043457]; regulation of cytokine production involved in inflammatory response [GO:1900015]; regulation of insulin secretion [GO:0050796]; response to bacterium [GO:0009617]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]; response to lipopolysaccharide [GO:0032496]; superoxide metabolic process [GO:0006801]

drug:
DB01997;DB08214;DB07002;DB01835;DB04534;DB03100;DB02207;DB05252;DB02533;DB01234;DB00997;DB07306;DB07388;DB02234;DB05214;DB00125;DB00155;DB03953;DB01110;DB02044;DB03449;DB07389;DB03144;DB02644;DB02539;DB02462;DB08814;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35228-1; Sequence=Displayed; Name=2; IsoId=P35228-2; Sequence=VSP_003582, VSP_003583; 


uniprotID: Q6P499
geneSymbol: NIPAL3
reactome: R-HSA-5223345;
name: NIPA-like protein 3
length: 406
go: ENSG00000001461;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
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=3;  Name=1; IsoId=Q6P499-1; Sequence=Displayed; Name=2; IsoId=Q6P499-2; Sequence=VSP_019445; Note=No experimental confirmation available.; Name=3; IsoId=Q6P499-3; Sequence=VSP_019446, VSP_019447; Note=No experimental confirmation available.; 


uniprotID: Q9NZP6
geneSymbol: NPAP1
name: Nuclear pore-associated protein 1
length: 1156
go: ENSG00000185823;
sequence:

opentargets:
nuclear inner membrane [GO:0005637]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nuclear localization sequence binding [GO:0008139]; structural constituent of nuclear pore [GO:0017056]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; protein import into nucleus [GO:0006606]; spermatogenesis [GO:0007283]

snps:
rs35022251 rs772577429 rs778802437 rs35870568 rs3784246 rs1563102 rs7165533 rs36025315 rs3742950 rs36032407 rs34413216 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:22694955}. Nucleus inner membrane {ECO:0000269|PubMed:22694955}. Note=Colocalizes with the NPC and nuclear lamins at the nuclear periphery.


uniprotID: Q99743
geneSymbol: NPAS2
reactome: R-HSA-1368108;R-HSA-1989781;R-HSA-400253;
length: 824
go: ENSG00000170485;
snps: rs2305160 rs11541353
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:14645221}.
name:
Neuronal PAS domain-containing protein 2 (Neuronal PAS2) (Basic-helix-loop-helix-PAS protein MOP4) (Class E basic helix-loop-helix protein 9) (bHLHe9) (Member of PAS protein 4) (PAS domain-containing protein 4)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; Hsp90 protein binding [GO:0051879]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; cellular response to DNA damage stimulus [GO:0006974]; central nervous system development [GO:0007417]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; negative regulation of cell death [GO:0060548]; positive regulation of DNA repair [GO:0045739]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of lipid metabolic process [GO:0019216]; regulation of response to DNA damage stimulus [GO:2001020]; response to redox state [GO:0051775]


uniprotID: Q9Y5S8
geneSymbol: NOX1
reactome: R-HSA-5668599;
length: 564
go: ENSG00000007952;
snps: rs2071756 rs34688635 rs35404864
name:
NADPH oxidase 1 (NOX-1) (EC 1.-.-.-) (Mitogenic oxidase 1) (MOX-1) (NADH/NADPH mitogenic oxidase subunit P65-MOX) (NOH-1)

sequence:

opentargets:
cell junction [GO:0030054]; early endosome [GO:0005769]; invadopodium membrane [GO:0071438]; NADPH oxidase complex [GO:0043020]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; NADP binding [GO:0050661]; Rac GTPase binding [GO:0048365]; superoxide-generating NADPH oxidase activity [GO:0016175]; voltage-gated ion channel activity [GO:0005244]; angiogenesis [GO:0001525]; cell migration [GO:0016477]; cellular response to hyperoxia [GO:0071455]; cellular stress response to acidic pH [GO:1990451]; extracellular matrix organization [GO:0030198]; hydrogen peroxide metabolic process [GO:0042743]; inflammatory response [GO:0006954]; intracellular pH elevation [GO:0051454]; NADP metabolic process [GO:0006739]; oxidation-reduction process [GO:0055114]; oxygen metabolic process [GO:0072592]; positive regulation of cell proliferation [GO:0008284]; positive regulation of integrin biosynthetic process [GO:0045726]; positive regulation of JNK cascade [GO:0046330]; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902177]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of blood pressure [GO:0008217]; regulation of ion transmembrane transport [GO:0034765]; regulation of systemic arterial blood pressure by renin-angiotensin [GO:0003081]; respiratory burst [GO:0045730]; signal transduction [GO:0007165]; superoxide anion generation [GO:0042554]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=NOH-1L; IsoId=Q9Y5S8-1; Sequence=Displayed; Name=NOH-1S; IsoId=Q9Y5S8-2; Sequence=VSP_001577, VSP_001578; Name=NOH-1LV; IsoId=Q9Y5S8-3; Sequence=VSP_001579; 

location:
SUBCELLULAR LOCATION: Cell projection, invadopodium membrane {ECO:0000269|PubMed:19755710}; Multi-pass membrane protein {ECO:0000269|PubMed:19755710}. Cell membrane {ECO:0000269|PubMed:26301257}.


uniprotID: P61583
geneSymbol: ERVK-5
sequence: MNPSEMQRKGPPQRWCLQVYPTAPKRQRPSRTGHDDDGGFVEKKRGKCGEKQERSDCYCVCVERSRHRRLHFVLY
length: 75
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=When overexpressed. {ECO:0000250}.
name:
Endogenous retrovirus group K member 5 Np9 protein (Endogenous retrovirus K protein 5) (HERV-K(II) Np9 protein) (HERV-K_3q12.3 provirus Np9 protein)


uniprotID: P61582
geneSymbol: ERVK-7
sequence: MNPLEMQRKGPPRRWCLQVYPTAPKRQRPSRTGHDDDGGFVEKKRGKCGEKQERSDCYCVCVERSRHGRLHFVMC
length: 75
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=When overexpressed. {ECO:0000250}.
name:
Endogenous retrovirus group K member 7 Np9 protein (HERV-K(III) Np9 protein) (HERV-K102 Np9 protein) (HERV-K_1q22 provirus Np9 protein)


uniprotID: Q9HBY0
geneSymbol: NOX3
reactome: R-HSA-5668599;
name: NADPH oxidase 3 (EC 1.6.3.-) (Mitogenic oxidase 2) (MOX-2) (gp91phox homolog 3) (GP91-3)
length: 568
go: ENSG00000074771;
snps: rs3749930
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; NADPH oxidase complex [GO:0043020]; plasma membrane [GO:0005886]; superoxide-generating NADPH oxidase activity [GO:0016175]; detection of gravity [GO:0009590]; otolith development [GO:0048840]; superoxide anion generation [GO:0042554]; temperature homeostasis [GO:0001659]


uniprotID: P48145
geneSymbol: NPBWR1
reactome: R-HSA-375276;R-HSA-418594;
name: Neuropeptides B/W receptor type 1 (G-protein coupled receptor 7)
length: 328
go: ENSG00000183729;
snps: rs772418985 rs33977775 rs36068168
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide binding [GO:0042923]; neuropeptide receptor activity [GO:0008188]; opioid receptor activity [GO:0004985]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; regulation of metabolic process [GO:0019222]


uniprotID: Q8IVI9
geneSymbol: NOSTRIN
reactome: R-HSA-203641;
pdb: 2YUN;
length: 506
go: ENSG00000163072;
snps: rs479661
name:
Nostrin (BM247 homolog) (Nitric oxide synthase traffic inducer) (Nitric oxide synthase trafficker) (eNOS-trafficking inducer)

sequence:

opentargets:
cytoskeleton [GO:0005856]; endocytic vesicle membrane [GO:0030666]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; endocytosis [GO:0006897]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of nitric-oxide synthase activity [GO:0050999]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=NOSTRINalpha; IsoId=Q8IVI9-1; Sequence=Displayed; Name=2; IsoId=Q8IVI9-2; Sequence=VSP_025885; Name=3; Synonyms=NOSTRINbeta; IsoId=Q8IVI9-3; Sequence=VSP_025884; Note=May negatively regulate transcription of the NOSTRIN gene. {ECO:0000269|PubMed:18980613}; Name=4; IsoId=Q8IVI9-4; Sequence=VSP_044995; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:12446846, ECO:0000269|PubMed:16376344}; Peripheral membrane protein {ECO:0000269|PubMed:12446846, ECO:0000269|PubMed:16376344}; Cytoplasmic side {ECO:0000269|PubMed:12446846, ECO:0000269|PubMed:16376344}. Cytoplasmic vesicle {ECO:0000269|PubMed:12446846}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16234328, ECO:0000269|PubMed:16376344}. Note=Enriched in selected actin structures (PubMed:16234328, PubMed:16376344).; SUBCELLULAR LOCATION: Isoform 3: Nucleus {ECO:0000269|PubMed:18980613}.


uniprotID: Q9NQX5
geneSymbol: NPDC1
reactome: R-HSA-198933;
name: Neural proliferation differentiation and control protein 1 (NPDC-1)
length: 325
go: ENSG00000107281;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; regulation of immune response [GO:0050776]


uniprotID: O15118
geneSymbol: NPC1
reactome: R-HSA-8964038;
pdb: 3GKH;3GKI;3GKJ;3JD8;5F18;5F1B;5HNS;5JNX;5KWY;5U73;5U74;
name: NPC intracellular cholesterol transporter 1 (Niemann-Pick C1 protein)
length: 1278
go: ENSG00000141458;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of lysosomal membrane [GO:1905103]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; membrane raft [GO:0045121]; nuclear envelope [GO:0005635]; perinuclear region of cytoplasm [GO:0048471]; cholesterol binding [GO:0015485]; signaling receptor activity [GO:0038023]; sterol transporter activity [GO:0015248]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; adult walking behavior [GO:0007628]; autophagy [GO:0006914]; bile acid metabolic process [GO:0008206]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cellular response to steroid hormone stimulus [GO:0071383]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; endocytosis [GO:0006897]; establishment of protein localization to membrane [GO:0090150]; intracellular cholesterol transport [GO:0032367]; low-density lipoprotein particle clearance [GO:0034383]; lysosomal transport [GO:0007041]; membrane raft organization [GO:0031579]; negative regulation of cell death [GO:0060548]; negative regulation of macroautophagy [GO:0016242]; protein glycosylation [GO:0006486]; response to cadmium ion [GO:0046686]; response to drug [GO:0042493]; viral entry into host cell [GO:0046718]

snps:
rs747049347 rs120074136 rs372947142 rs17855819 rs866966704 rs80358252 rs1805081 rs55680026 rs80358251 rs120074134 rs1053321823 rs139751448 rs1064793791 rs774333145 rs61731962 rs781065429 rs372445155 rs1190383931 rs13381670 rs483352886 rs377515417 rs138184115 rs369368181 rs761660695 rs745777805 rs773351341 rs1788799 rs765652543 rs376213990 rs750480579 rs1057518942 rs370323921 rs1393388896 rs757475924 rs752386083 rs80358253 rs550562774 rs1057519242 rs1805082 rs1160114136 rs372030650 rs120074130 rs768999208 rs564631426 rs753768576 rs28940897 rs786204714 rs143124972 rs748837410 rs1428599096 rs120074135 rs543206298 rs120074132 rs34084984 rs773767253 rs28942108 rs757534240 rs80358254 rs80358254 rs150334966 rs80358257 rs761773567 rs140211089 rs28942107 rs28942104 rs80358258 rs771000314 rs80358259 rs772622214 rs746715353 rs28942106 rs374526072 rs758829443 rs778878523 rs34715591 rs28942105 rs28942105 rs748862167 rs780175800 rs200444084 rs369098773 rs758902805 rs753419933 rs120074131 rs766178353 rs761653115 rs745892286 rs1805084 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15118-1; Sequence=Displayed; Name=2; IsoId=O15118-2; Sequence=VSP_056431, VSP_056432, VSP_056433; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:12554680}; Multi-pass membrane protein {ECO:0000269|PubMed:10821832, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760}. Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:9927649}; Multi-pass membrane protein {ECO:0000269|PubMed:10821832, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760}.


uniprotID: Q9GZQ6
geneSymbol: NPFFR1
reactome: R-HSA-389397;R-HSA-416476;
length: 430
go: ENSG00000148734;
snps: rs3812694
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Neuropeptide FF receptor 1 (G-protein coupled receptor 147) (RFamide-related peptide receptor OT7T022)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide receptor activity [GO:0008188]; cellular response to hormone stimulus [GO:0032870]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q96MF7
geneSymbol: NSMCE2
reactome: R-HSA-3108214;
pdb: 2YU4;
length: 247
go: ENSG00000156831;
snps: rs11542104
name:
E3 SUMO-protein ligase NSE2 (EC 2.3.2.-) (E3 SUMO-protein transferase NSE2) (MMS21 homolog) (hMMS21) (Non-structural maintenance of chromosomes element 2 homolog) (Non-SMC element 2 homolog)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; Smc5-Smc6 complex [GO:0030915]; SUMO transferase activity [GO:0019789]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular senescence [GO:0090398]; double-strand break repair via homologous recombination [GO:0000724]; positive regulation of maintenance of mitotic sister chromatid cohesion [GO:0034184]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]; telomere maintenance via recombination [GO:0000722]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18086888}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Nucleus, PML body {ECO:0000269|PubMed:17589526}. Note=Localizes to PML nuclear bodies in ALT cell lines. {ECO:0000269|PubMed:17589526}.


uniprotID: Q9NXE4
geneSymbol: SMPD4
reactome: R-HSA-1660662;
length: 866
go: ENSG00000136699;
drug: DB00144;
name:
Sphingomyelin phosphodiesterase 4 (EC 3.1.4.12) (Neutral sphingomyelinase 3) (nSMase-3) (nSMase3) (Neutral sphingomyelinase III)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; metal ion binding [GO:0046872]; sphingomyelin phosphodiesterase activity [GO:0004767]; sphingomyelin phosphodiesterase D activity [GO:0050290]; cellular response to tumor necrosis factor [GO:0071356]; ceramide biosynthetic process [GO:0046513]; glycerophospholipid catabolic process [GO:0046475]; glycosphingolipid metabolic process [GO:0006687]; sphingomyelin catabolic process [GO:0006685]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=Q9NXE4-1; Sequence=Displayed; Name=2; IsoId=Q9NXE4-2; Sequence=VSP_022481; Name=3; IsoId=Q9NXE4-3; Sequence=VSP_022480; Note=No experimental confirmation available.; Name=4; IsoId=Q9NXE4-4; Sequence=VSP_022482; Note=No experimental confirmation available.; Name=5; IsoId=Q9NXE4-5; Sequence=VSP_022479, VSP_022483; Note=No experimental confirmation available.; Name=6; IsoId=Q9NXE4-6; Sequence=VSP_044495, VSP_022481; Name=7; IsoId=Q9NXE4-7; Sequence=VSP_054382, VSP_054385; Note=No experimental confirmation available.; Name=8; IsoId=Q9NXE4-8; Sequence=VSP_044495, VSP_054386, VSP_022481; Note=No experimental confirmation available.; Name=9; IsoId=Q9NXE4-9; Sequence=VSP_054383, VSP_054384; Note=No experimental confirmation available.; Name=10; IsoId=Q9NXE4-10; Sequence=VSP_055343, VSP_022481; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16517606, ECO:0000269|PubMed:18505924}; Single-pass membrane protein {ECO:0000269|PubMed:16517606}. Golgi apparatus membrane {ECO:0000269|PubMed:16517606}; Single-pass membrane protein {ECO:0000269|PubMed:16517606}.


uniprotID: Q3KNT7
geneSymbol: NSUN5P1
length: 163
name:
Putative NOL1/NOP2/Sun domain family member 5B (EC 2.1.1.-) (Williams-Beuren syndrome chromosomal region 20B protein)

sequence:
MATLLAWVGVSCCELAEEDFLAVSPLDPRYREVHYVLLDPSCSGSGMPSRQLEDPGAGTPSPVRLHALAGFQQRALCHALTFPSLQRLVYSMCSLCQEENEDMVPDALQQNPGAFRLAPALPARPHRGLSTFPGAEHCLRASPKTTLSGGFFVAVIERVEMPT

opentargets:
nucleolus [GO:0005730]; methyltransferase activity [GO:0008168]; RNA binding [GO:0003723]; rRNA base methylation [GO:0070475]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3KNT7-1; Sequence=Displayed; Name=2; IsoId=Q3KNT7-2; Sequence=VSP_021757; Name=3; IsoId=Q3KNT7-3; Sequence=VSP_021757, VSP_021758; 


uniprotID: Q96EP9
geneSymbol: SLC10A4
length: 437
go: ENSG00000145248;
name:
Sodium/bile acid cotransporter 4 (Na(+)/bile acid cotransporter 4) (Solute carrier family 10 member 4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bile acid:sodium symporter activity [GO:0008508]; bile acid and bile salt transport [GO:0015721]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23589386}; Multi-pass membrane protein {ECO:0000269|PubMed:23589386}.


uniprotID: Q0GE19
geneSymbol: SLC10A7
length: 340
go: ENSG00000120519;
name:
Sodium/bile acid cotransporter 7 (Na(+)/bile acid cotransporter 7) (Solute carrier family 10 member 7)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; symporter activity [GO:0015293]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=2; Synonyms=A; IsoId=Q0GE19-2; Sequence=Displayed; Name=1; Synonyms=C; IsoId=Q0GE19-1; Sequence=VSP_059321; Name=3; IsoId=Q0GE19-3; Sequence=VSP_023219; Name=4; Synonyms=B; IsoId=Q0GE19-4; Sequence=VSP_023222, VSP_023223; Name=5; IsoId=Q0GE19-5; Sequence=VSP_023220, VSP_023221; Note=No experimental confirmation available.; Name=6; IsoId=Q0GE19-6; Sequence=VSP_023216, VSP_023217; Note=No experimental confirmation available.; Name=7; IsoId=Q0GE19-7; Sequence=VSP_023215, VSP_023218; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17628207}; Multi-pass membrane protein {ECO:0000305|PubMed:17628207}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17628207}; Multi-pass membrane protein {ECO:0000305|PubMed:17628207}.


uniprotID: P78549
geneSymbol: NTHL1
reactome: R-HSA-110328;R-HSA-110329;R-HSA-110357;
length: 312
go: ENSG00000065057;
snps: rs3087469 rs2302172 rs1805378 rs3211977 rs3087468
name:
Endonuclease III-like protein 1 (hNTH1) (EC 3.2.2.-) (EC 4.2.99.18) (Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase) (DNA glycosylase/AP lyase)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; DNA N-glycosylase activity [GO:0019104]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; double-stranded DNA binding [GO:0003690]; endonuclease activity [GO:0004519]; metal ion binding [GO:0046872]; oxidized purine nucleobase lesion DNA N-glycosylase activity [GO:0008534]; oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity [GO:0000703]; base-excision repair, AP site formation [GO:0006285]; depyrimidination [GO:0045008]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=1; Synonyms=M-8; IsoId=P78549-1; Sequence=Displayed; Name=2; Synonyms=M+1; IsoId=P78549-2; Sequence=VSP_054293; Name=3; Synonyms=M+8; IsoId=P78549-3; Sequence=VSP_054292; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03183, ECO:0000269|PubMed:10882850, ECO:0000269|PubMed:12531031, ECO:0000269|PubMed:9611236}. Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03183, ECO:0000269|PubMed:9611236}.


uniprotID: O00634
geneSymbol: NTN3
reactome: R-HSA-375170;
name: Netrin-3 (Netrin-2-like protein)
length: 580
go: ENSG00000162068;
snps: rs34818219
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]


uniprotID: Q8N5F7
geneSymbol: NKAP
name: NF-kappa-B-activating protein
length: 415
go: ENSG00000101882;
snps: rs34728541
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14550261}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; RNA binding [GO:0003723]; granulocyte differentiation [GO:0030851]; hematopoietic stem cell proliferation [GO:0071425]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; stem cell population maintenance [GO:0019827]; T cell differentiation in thymus [GO:0033077]


uniprotID: Q9BSH3
geneSymbol: NICN1
reactome: R-HSA-8955332;
name: Nicolin-1 (NPCEDRG) (Tubulin polyglutamylase complex subunit 5) (PGs5)
length: 213
go: ENSG00000145029;ENSG00000283189;
opentargets: microtubule [GO:0005874]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12392556}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSH3-1; Sequence=Displayed; Name=2; IsoId=Q9BSH3-2; Sequence=VSP_011420; 


uniprotID: Q9H2Z4
geneSymbol: NKX2-4
name: Homeobox protein Nkx-2.4 (Homeobox protein NK-2 homolog D)
length: 354
go: ENSG00000125816;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; multicellular organism development [GO:0007275]


uniprotID: Q8NFZ4
geneSymbol: NLGN2
reactome: R-HSA-6794361;
pdb: 5XEQ;
name: Neuroligin-2
length: 835
go: ENSG00000169992;
sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; dopaminergic synapse [GO:0098691]; glycinergic synapse [GO:0098690]; inhibitory synapse [GO:0060077]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of postsynaptic specialization membrane [GO:0099060]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; spanning component of membrane [GO:0089717]; symmetric, GABA-ergic, inhibitory synapse [GO:0098983]; synapse [GO:0045202]; cell adhesion molecule binding [GO:0050839]; identical protein binding [GO:0042802]; neurexin family protein binding [GO:0042043]; signaling receptor activity [GO:0038023]; cell-cell adhesion [GO:0098609]; cell-cell junction maintenance [GO:0045217]; gephyrin clustering involved in postsynaptic density assembly [GO:0097116]; inhibitory synapse assembly [GO:1904862]; locomotory exploration behavior [GO:0035641]; modulation of chemical synaptic transmission [GO:0050804]; neuromuscular process controlling balance [GO:0050885]; neuron cell-cell adhesion [GO:0007158]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of inhibitory postsynaptic potential [GO:0097151]; positive regulation of insulin secretion [GO:0032024]; positive regulation of protein localization to synapse [GO:1902474]; 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]; postsynaptic density protein 95 clustering [GO:0097119]; postsynaptic membrane assembly [GO:0097104]; presynapse assembly [GO:0099054]; presynaptic membrane assembly [GO:0097105]; protein localization to synapse [GO:0035418]; regulation of AMPA receptor activity [GO:2000311]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; sensory perception of pain [GO:0019233]; synapse assembly [GO:0007416]; synapse organization [GO:0050808]; synaptic vesicle endocytosis [GO:0048488]; terminal button organization [GO:0072553]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}. Note=Detected at postsynaptic membranes in brain. Detected at dendritic spines in cultured neurons. Colocalizes with GPHN and ARHGEF9 at neuronal cell membranes (By similarity). Localized at presynaptic membranes in retina. Colocalizes with GABRG2 at inhibitory synapses in the retina (By similarity). {ECO:0000250}.


uniprotID: Q9BVI4
geneSymbol: NOC4L
reactome: R-HSA-6790901;R-HSA-6791226;
length: 516
go: ENSG00000184967;
name:
Nucleolar complex protein 4 homolog (NOC4 protein homolog) (NOC4-like protein) (Nucleolar complex-associated protein 4-like protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; Noc4p-Nop14p complex [GO:0030692]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:12429849}; Multi-pass membrane protein {ECO:0000269|PubMed:12429849}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.


uniprotID: Q99801
geneSymbol: NKX3-1
pdb: 2L9R;
name: Homeobox protein Nkx-3.1 (Homeobox protein NK-3 homolog A)
length: 234
go: ENSG00000167034;
snps: rs2228013
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:11137288}.
sequence:

opentargets:
intracellular [GO:0005622]; nucleus [GO:0005634]; androgen receptor activity [GO:0004882]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; estrogen receptor activity [GO:0030284]; estrogen receptor binding [GO:0030331]; histone deacetylase binding [GO:0042826]; MADS box domain binding [GO:0097162]; protein kinase activator activity [GO:0030295]; protein self-association [GO:0043621]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; androgen receptor signaling pathway [GO:0030521]; branching involved in prostate gland morphogenesis [GO:0060442]; branching morphogenesis of an epithelial tube [GO:0048754]; cellular response to drug [GO:0035690]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-1 [GO:0071347]; cellular response to steroid hormone stimulus [GO:0071383]; cellular response to tumor necrosis factor [GO:0071356]; dorsal aorta development [GO:0035907]; epithelial cell proliferation involved in salivary gland morphogenesis [GO:0060664]; heart development [GO:0007507]; male gonad development [GO:0008584]; metanephros development [GO:0001656]; mitotic cell cycle arrest [GO:0071850]; multicellular organism development [GO:0007275]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial cell proliferation involved in prostate gland development [GO:0060770]; negative regulation of estrogen receptor binding [GO:0071899]; negative regulation of gene expression [GO:0010629]; negative regulation of insulin-like growth factor receptor signaling pathway [GO:0043569]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of transcription, DNA-templated [GO:0045892]; pharyngeal system development [GO:0060037]; positive regulation of androgen secretion [GO:2000836]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of cell death [GO:0010942]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of gene expression [GO:0010628]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of response to DNA damage stimulus [GO:2001022]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein kinase B signaling [GO:0043491]; regulation of transcription, DNA-templated [GO:0006355]; response to testosterone [GO:0033574]; salivary gland development [GO:0007431]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q99801-1; Sequence=Displayed; Name=2; Synonyms=V2; IsoId=Q99801-2; Sequence=VSP_002230; Name=3; Synonyms=V4; IsoId=Q99801-3; Sequence=VSP_002231; Name=4; Synonyms=V3; IsoId=Q99801-4; Sequence=VSP_002232; Name=5; Synonyms=V1; IsoId=Q99801-5; Sequence=VSP_002233; 


uniprotID: Q05586
geneSymbol: GRIN1
reactome: R-HSA-3928662;R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;R-HSA-6794361;R-HSA-8849932;
pdb: 2HQW;2NR1;3BYA;5H8F;5H8H;5H8N;5H8Q;5I2K;5I2N;5KCJ;5KDT;5TP9;5TPA;
length: 938
go: ENSG00000176884;
name:
Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glutamate [NMDA] receptor subunit zeta-1) (N-methyl-D-aspartate receptor subunit NR1) (NMD-R1)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; endoplasmic reticulum [GO:0005783]; excitatory synapse [GO:0060076]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; intracellular [GO:0005622]; neuron projection [GO:0043005]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; synaptic cleft [GO:0043083]; synaptic membrane [GO:0097060]; synaptic vesicle [GO:0008021]; terminal bouton [GO:0043195]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; glutamate binding [GO:0016595]; glutamate-gated calcium ion channel activity [GO:0022849]; glycine binding [GO:0016594]; neurotransmitter binding [GO:0042165]; NMDA glutamate receptor activity [GO:0004972]; protein-containing complex binding [GO:0044877]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; adult locomotory behavior [GO:0008344]; brain development [GO:0007420]; calcium ion homeostasis [GO:0055074]; calcium ion transmembrane import into cytosol [GO:0097553]; cation transport [GO:0006812]; cerebral cortex development [GO:0021987]; conditioned taste aversion [GO:0001661]; ephrin receptor signaling pathway [GO:0048013]; excitatory chemical synaptic transmission [GO:0098976]; excitatory postsynaptic potential [GO:0060079]; ionotropic glutamate receptor signaling pathway [GO:0035235]; long-term memory [GO:0007616]; male mating behavior [GO:0060179]; MAPK cascade [GO:0000165]; negative regulation of neuron apoptotic process [GO:0043524]; olfactory learning [GO:0008355]; pons maturation [GO:0021586]; positive regulation of apoptotic process [GO:0043065]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prepulse inhibition [GO:0060134]; propylene metabolic process [GO:0018964]; protein heterotetramerization [GO:0051290]; protein localization to postsynaptic membrane [GO:1903539]; regulation of axonogenesis [GO:0050770]; regulation of dendrite morphogenesis [GO:0048814]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of membrane potential [GO:0042391]; regulation of respiratory gaseous exchange [GO:0043576]; regulation of synapse assembly [GO:0051963]; regulation of synaptic plasticity [GO:0048167]; respiratory gaseous exchange [GO:0007585]; response to amphetamine [GO:0001975]; response to ethanol [GO:0045471]; response to glycine [GO:1905429]; response to morphine [GO:0043278]; sensory perception of pain [GO:0019233]; social behavior [GO:0035176]; suckling behavior [GO:0001967]; synaptic transmission, glutamatergic [GO:0035249]; visual learning [GO:0008542]

drug:
DB00659;DB06151;DB08838;DB00289;DB05824;DB04620;DB03929;DB00996;DB06741;DB08954;DB06738;DB00142;DB01043;DB04896;DB01173;DB00312;DB00454;DB01174;DB01708;DB00418;

snps:
rs869312865 rs148008303 rs763133592 rs3181457 rs878853143 rs797045047 rs1060500046 rs387906635 rs1126448 rs797044925 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=3; Synonyms=Long, NR1-3; IsoId=Q05586-1; Sequence=Displayed; Name=1; Synonyms=Short, NR1-1; IsoId=Q05586-2; Sequence=VSP_000137, VSP_000138; Name=2; Synonyms=Medium, NR1-2; IsoId=Q05586-3; Sequence=VSP_000139; Name=4; IsoId=Q05586-4; Sequence=VSP_011778, VSP_011779; Name=5; IsoId=Q05586-5; Sequence=VSP_011777; Name=6; IsoId=Q05586-6; Sequence=VSP_011777, VSP_011778, VSP_011779; Name=7; IsoId=Q05586-7; Sequence=VSP_011777, VSP_045464; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:28105280, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:7685113}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. {ECO:0000250}.


uniprotID: O95478
geneSymbol: NSA2
length: 260
go: ENSG00000164346;
snps: rs3733793
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
Ribosome biogenesis protein NSA2 homolog (Hairy cell leukemia protein 1) (TGF-beta-inducible nuclear protein 1)

sequence:

opentargets:
nucleolus [GO:0005730]; preribosome, large subunit precursor [GO:0030687]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]


uniprotID: P42857
geneSymbol: NSG1
length: 185
go: ENSG00000168824;
name:
Neuronal vesicle trafficking-associated protein 1 (Neuron-enriched endosomal protein of 21 kDa) (Neuron-specific protein family member 1)

sequence:
MVKLGNNFAEKGTKQPLLEDGFDTIPLMTPLDVNQLQFPPPDKVVVKTKTEYEPDRKKGKARPPQIAEFTVSITEGVTERFKVSVLVLFALAFLTCVVFLVVYKVYKYDRACPDGFVLKNTQCIPEGLESYYAEQDSSAREKFYTVINHYNLAKQSITRSVSPWMSVLSEEKLSEQETEAAEKSA

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; dendrite [GO:0030425]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; glutamatergic synapse [GO:0098978]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lateral plasma membrane [GO:0016328]; lysosomal lumen [GO:0043202]; multivesicular body membrane [GO:0032585]; nucleus [GO:0005634]; postsynaptic endosome [GO:0098845]; postsynaptic membrane [GO:0045211]; recycling endosome membrane [GO:0055038]; somatodendritic compartment [GO:0036477]; trans-Golgi network membrane [GO:0032588]; clathrin light chain binding [GO:0032051]; signaling receptor binding [GO:0005102]; amyloid precursor protein metabolic process [GO:0042982]; apoptotic process [GO:0006915]; clathrin coat assembly [GO:0048268]; dopamine receptor signaling pathway [GO:0007212]; endosomal transport [GO:0016197]; neurotransmitter receptor cycle [GO:0099627]; neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0098887]; positive regulation of receptor recycling [GO:0001921]; postsynaptic neurotransmitter receptor cycle [GO:0099630]; receptor recycling [GO:0001881]; regulation of long-term synaptic potentiation [GO:1900271]; spontaneous synaptic transmission [GO:0098814]; vesicle-mediated transport in synapse [GO:0099003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42857-1; Sequence=Displayed; Name=2; IsoId=P42857-2; Sequence=VSP_054333; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P02683}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:P02683}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:P02683}. Endosome membrane {ECO:0000250|UniProtKB:P02683}. Cell projection, dendrite {ECO:0000250|UniProtKB:P02683}. Early endosome membrane {ECO:0000250|UniProtKB:P02683}. Late endosome membrane {ECO:0000250|UniProtKB:P02683}. Lysosome lumen {ECO:0000250|UniProtKB:P02683}. Recycling endosome membrane {ECO:0000250|UniProtKB:P02683}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P02683}. Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:P02683}. Endosome, multivesicular body membrane {ECO:0000250|UniProtKB:P02683}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:20599942}. Note=Endocytosed from the cell surface, thus enters into early endosomes, trafficks to late endosomes and degradates in lysosomes (By similarity). Endoplasmic reticulum targeting is essential for apoptosis (PubMed:20599942). Found in both stationary and motile endosomes. A previous study supports a type I membrane protein topology (By similarity). {ECO:0000250|UniProtKB:P02683, ECO:0000250|UniProtKB:Q62092, ECO:0000269|PubMed:20599942}.


uniprotID: Q5PT55
geneSymbol: SLC10A5
length: 438
go: ENSG00000253598;
snps: rs7012758
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium/bile acid cotransporter 5 (Na(+)/bile acid cotransporter 5) (Solute carrier family 10 member 5)

sequence:

opentargets:
integral component of membrane [GO:0016021]; symporter activity [GO:0015293]; sodium ion transport [GO:0006814]


uniprotID: Q5VT03
geneSymbol: NUTM2D
name: NUT family member 2D
length: 806
go: ENSG00000214562;
sequence:


uniprotID: Q9H3P2
geneSymbol: NELFA
pdb: 5L3X;6GML;
name: Negative elongation factor A (NELF-A) (Wolf-Hirschhorn syndrome candidate 2 protein)
length: 528
go: ENSG00000185049;
snps: rs2234569
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11150502}.
sequence:

opentargets:
cytosol [GO:0005829]; NELF complex [GO:0032021]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; multicellular organism development [GO:0007275]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3P2-1; Sequence=Displayed; Name=2; IsoId=Q9H3P2-7; Sequence=VSP_035589; 


uniprotID: Q13469
geneSymbol: NFATC2
reactome: R-HSA-2025928;R-HSA-2871809;R-HSA-5607763;R-HSA-8877330;
pdb: 1A02;1OWR;1P7H;1PZU;1S9K;2AS5;2O93;3QRF;
length: 925
go: ENSG00000101096;
snps: rs12479626
name:
Nuclear factor of activated T-cells, cytoplasmic 2 (NF-ATc2) (NFATc2) (NFAT pre-existing subunit) (NF-ATp) (T-cell transcription factor NFAT1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; phosphatase binding [GO:0019902]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; B cell receptor signaling pathway [GO:0050853]; calcineurin-NFAT signaling cascade [GO:0033173]; cell migration [GO:0016477]; cellular response to DNA damage stimulus [GO:0006974]; cytokine production [GO:0001816]; Fc-epsilon receptor signaling pathway [GO:0038095]; myotube cell development [GO:0014904]; negative regulation of vascular smooth muscle cell differentiation [GO:1905064]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of regulatory T cell differentiation [GO:0045589]; regulation of transcription, DNA-templated [GO:0006355]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=C, NFATc2_IB_IIL; IsoId=Q13469-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q13469-2; Sequence=VSP_005595; Name=3; Synonyms=NFATc2_IA_IIL; IsoId=Q13469-3; Sequence=VSP_042757, VSP_005595; Name=4; IsoId=Q13469-4; Sequence=VSP_042757; Name=5; IsoId=Q13469-5; Sequence=VSP_055926, VSP_005595; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic for the phosphorylated form and nuclear after activation that is controlled by calcineurin-mediated dephosphorylation. Rapid nuclear exit of NFATC is thought to be one mechanism by which cells distinguish between sustained and transient calcium signals. The subcellular localization of NFATC plays a key role in the regulation of gene transcription.


uniprotID: O95096
geneSymbol: NKX2-2
reactome: R-HSA-210745;R-HSA-210746;
name: Homeobox protein Nkx-2.2 (Homeobox protein NK-2 homolog B)
length: 273
go: ENSG00000125820;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter sequence-specific DNA binding [GO:0000987]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; astrocyte differentiation [GO:0048708]; brain development [GO:0007420]; digestive tract development [GO:0048565]; endocrine pancreas development [GO:0031018]; negative regulation of neuron differentiation [GO:0045665]; neuron fate specification [GO:0048665]; oligodendrocyte development [GO:0014003]; optic nerve development [GO:0021554]; pancreatic A cell fate commitment [GO:0003326]; pancreatic PP cell fate commitment [GO:0003329]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to glucose [GO:0009749]; response to progesterone [GO:0032570]; smoothened signaling pathway [GO:0007224]; spinal cord motor neuron differentiation [GO:0021522]; spinal cord oligodendrocyte cell fate specification [GO:0021530]; type B pancreatic cell development [GO:0003323]; type B pancreatic cell fate commitment [GO:0003327]; ventral spinal cord interneuron fate determination [GO:0060580]


uniprotID: Q9NZ94
geneSymbol: NLGN3
reactome: R-HSA-6794361;
name: Neuroligin-3 (Gliotactin homolog)
length: 848
go: ENSG00000196338;
snps: rs17854698 rs17854697 rs17857400 rs17857401
sequence:

opentargets:
asymmetric, glutamatergic, excitatory synapse [GO:0098985]; cell junction [GO:0030054]; cell surface [GO:0009986]; endocytic vesicle [GO:0030139]; excitatory synapse [GO:0060076]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; plasma membrane [GO:0005886]; 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]; neurexin family protein binding [GO:0042043]; scaffold protein binding [GO:0097110]; signaling receptor activity [GO:0038023]; adult behavior [GO:0030534]; axon extension [GO:0048675]; excitatory postsynaptic potential [GO:0060079]; inhibitory postsynaptic potential [GO:0060080]; learning [GO:0007612]; long-term synaptic potentiation [GO:0060291]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of dendritic spine morphogenesis [GO:0061002]; negative regulation of excitatory postsynaptic potential [GO:0090394]; neuron cell-cell adhesion [GO:0007158]; oligodendrocyte differentiation [GO:0048709]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of synaptic vesicle clustering [GO:2000809]; postsynaptic membrane assembly [GO:0097104]; presynapse assembly [GO:0099054]; presynaptic membrane assembly [GO:0097105]; receptor-mediated endocytosis [GO:0006898]; regulation of long-term synaptic potentiation [GO:1900271]; regulation of NMDA receptor activity [GO:2000310]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; regulation of terminal button organization [GO:2000331]; rhythmic synaptic transmission [GO:0060024]; social behavior [GO:0035176]; synapse assembly [GO:0007416]; synapse organization [GO:0050808]; synaptic vesicle endocytosis [GO:0048488]; visual learning [GO:0008542]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=HNL3s; IsoId=Q9NZ94-1; Sequence=Displayed; Name=2; Synonyms=HNL3; IsoId=Q9NZ94-2; Sequence=VSP_007534; Name=3; IsoId=Q9NZ94-3; Sequence=VSP_053827; Note=No experimental evidence available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Detected at both glutamatergic and GABAergic synapses. {ECO:0000250}.


uniprotID: O95897
geneSymbol: OLFM2
name: Noelin-2 (Olfactomedin-2)
length: 454
go: ENSG00000105088;
snps: rs1298178636 rs2303100 rs11556087
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extrinsic component of synaptic membrane [GO:0099243]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; locomotory behavior [GO:0007626]; positive regulation of smooth muscle cell differentiation [GO:0051152]; protein secretion [GO:0009306]; regulation of vascular smooth muscle cell dedifferentiation [GO:1905174]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:21228389}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8BM13}. Membrane {ECO:0000250|UniProtKB:Q8BM13}. Nucleus {ECO:0000269|PubMed:25298399}. Cytoplasm {ECO:0000269|PubMed:25298399}. Note=Nuclear localization is induced by TGF-beta. {ECO:0000269|PubMed:25298399}.


uniprotID: Q9ULX3
geneSymbol: NOB1
reactome: R-HSA-6791226;
pdb: 6G18;6G4S;6G51;6G53;6G5I;
name: RNA-binding protein NOB1 (Phosphorylation regulatory protein HP-10) (Protein ART-4)
length: 412
go: ENSG00000141101;
snps: rs3811348 rs1075935
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16172919}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; preribosome, small subunit precursor [GO:0030688]; endoribonuclease activity [GO:0004521]; metal ion binding [GO:0046872]; cleavage involved in rRNA processing [GO:0000469]; maturation of SSU-rRNA [GO:0030490]; rRNA processing [GO:0006364]; visual perception [GO:0007601]


uniprotID: Q9BSC4
geneSymbol: NOL10
name: Nucleolar protein 10
length: 688
go: ENSG00000115761;
snps: rs2287059
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
sequence:

opentargets:
nucleolus [GO:0005730]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BSC4-1; Sequence=Displayed; Name=2; IsoId=Q9BSC4-2; Sequence=VSP_015456; Note=No experimental confirmation available.; Name=3; IsoId=Q9BSC4-3; Sequence=VSP_015454, VSP_015455, VSP_015457, VSP_015458; Note=No experimental confirmation available.; Name=4; IsoId=Q9BSC4-4; Sequence=VSP_045122; 


uniprotID: Q9NRX3
geneSymbol: NDUFA4L2
sequence: MAGASLGARFYRQIKRHPGIIPMIGLICLGMGSAALYLLRLALRSPDVCWDRKNNPEPWNRLSPNDQYKFLAVSTDYKKLKKDRPDF
length: 87
go: ENSG00000185633;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 (NADH-ubiquinone oxidoreductase MLRQ subunit homolog) (NUOMS)

opentargets:
mitochondrial respiratory chain complex IV [GO:0005751]; electron transport chain [GO:0022900]; proton transmembrane transport [GO:1902600]


uniprotID: Q9NPH0
geneSymbol: ACP6
reactome: R-HSA-1483166;
pdb: 4JOB;4JOC;4JOD;
length: 428
go: ENSG00000162836;
snps: rs6593795
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10506173}.
name:
Lysophosphatidic acid phosphatase type 6 (EC 3.1.3.2) (Acid phosphatase 6, lysophosphatidic) (Acid phosphatase-like protein 1) (PACPL1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acid phosphatase activity [GO:0003993]; lysophosphatidic acid phosphatase activity [GO:0052642]; hematopoietic progenitor cell differentiation [GO:0002244]; lysobisphosphatidic acid metabolic process [GO:2001311]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPH0-1; Sequence=Displayed; Name=2; IsoId=Q9NPH0-2; Sequence=VSP_014121, VSP_014122; Note=No experimental confirmation available.; 


uniprotID: Q9H093
geneSymbol: NUAK2
length: 628
snps: rs55745939 rs35208615 rs35070935
name:
NUAK family SNF1-like kinase 2 (EC 2.7.11.1) (Omphalocele kinase 2) (SNF1/AMP kinase-related kinase) (SNARK)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton organization [GO:0030036]; apoptotic process [GO:0006915]; cellular response to glucose starvation [GO:0042149]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; protein phosphorylation [GO:0006468]


uniprotID: Q9BQG2
geneSymbol: NUDT12
reactome: R-HSA-197264;
length: 462
go: ENSG00000112874;
snps: rs35903418 rs34468716
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:12790796}.
name:
Peroxisomal NADH pyrophosphatase NUDT12 (EC 3.6.1.22) (Nucleoside diphosphate-linked moiety X motif 12) (Nudix motif 12)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]; NAD+ diphosphatase activity [GO:0000210]; NADH pyrophosphatase activity [GO:0035529]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; NAD catabolic process [GO:0019677]; NADH metabolic process [GO:0006734]; NADP catabolic process [GO:0006742]


uniprotID: Q86X67
geneSymbol: NUDT13
reactome: R-HSA-499943;
name: Nucleoside diphosphate-linked moiety X motif 13 (Nudix motif 13) (EC 3.-.-.-) (Protein KiSS-16)
length: 352
go: ENSG00000166321;
snps: rs34284214 rs17658872
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; metal ion binding [GO:0046872]; pyrophosphatase activity [GO:0016462]; nucleobase-containing small molecule interconversion [GO:0015949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86X67-1; Sequence=Displayed; Name=2; IsoId=Q86X67-2; Sequence=VSP_011417; Note=No experimental confirmation available.; Name=3; IsoId=Q86X67-3; Sequence=VSP_054559; Note=No experimental confirmation available.; Name=4; IsoId=Q86X67-4; Sequence=VSP_055695, VSP_055696; 


uniprotID: Q9NV35
geneSymbol: NUDT15
reactome: R-HSA-2393930;
pdb: 5BON;5LPG;
length: 164
go: ENSG00000136159;
snps: rs186364861 rs116855232 rs147390019
name:
Nucleotide triphosphate diphosphatase NUDT15 (EC 3.6.1.9) (MutT homolog 2) (MTH2) (Nucleoside diphosphate-linked moiety X motif 15) (Nudix motif 15) (Nucleoside diphosphate-linked to another moiety X hydrolase 15) (Nudix hydrolase 15)

sequence:
MTASAQPRGRRPGVGVGVVVTSCKHPRCVLLGKRKGSVGAGSFQLPGGHLEFGETWEECAQRETWEEAALHLKNVHFASVVNSFIEKENYHYVTILMKGEVDVTHDSEPKNVEPEKNESWEWVPWEELPPLDQLFWGLRCLKEQGYDPFKEDLNHLVGYKGNHL

opentargets:
cytosol [GO:0005829]; 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity [GO:0035539]; 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity [GO:0008413]; metal ion binding [GO:0046872]; NADH pyrophosphatase activity [GO:0035529]; nucleoside-diphosphatase activity [GO:0017110]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; dGTP catabolic process [GO:0006203]; DNA protection [GO:0042262]; exogenous drug catabolic process [GO:0042738]; mitotic cell cycle [GO:0000278]; nucleobase-containing small molecule catabolic process [GO:0034656]; nucleoside phosphate catabolic process [GO:1901292]; purine nucleotide catabolic process [GO:0006195]; regulation of proteasomal protein catabolic process [GO:0061136]


uniprotID: P15309
geneSymbol: ACPP
reactome: R-HSA-6798695;
pdb: 1CVI;1ND5;1ND6;2HPA;2L3H;2L77;2L79;2MG0;3PPD;
length: 386
go: ENSG00000014257;
drug: DB03577;DB03390;DB06688;
snps: rs17850347 rs17856254 rs17856253 rs17851392 rs17850198
name:
Prostatic acid phosphatase (PAP) (EC 3.1.3.2) (5'-nucleotidase) (5'-NT) (EC 3.1.3.5) (Ecto-5'-nucleotidase) (Thiamine monophosphatase) (TMPase) [Cleaved into: PAPf39]

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; lysosomal membrane [GO:0005765]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; 5'-nucleotidase activity [GO:0008253]; acid phosphatase activity [GO:0003993]; identical protein binding [GO:0042802]; lysophosphatidic acid phosphatase activity [GO:0052642]; phosphatase activity [GO:0016791]; protein homodimerization activity [GO:0042803]; thiamine phosphate phosphatase activity [GO:0042131]; adenosine metabolic process [GO:0046085]; dephosphorylation [GO:0016311]; neutrophil degranulation [GO:0043312]; nucleotide metabolic process [GO:0009117]; positive regulation of adenosine receptor signaling pathway [GO:0060168]; protein homotetramerization [GO:0051289]; purine nucleobase metabolic process [GO:0006144]; regulation of sensory perception of pain [GO:0051930]; thiamine metabolic process [GO:0006772]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Secreted PAP, sPAP; IsoId=P15309-1; Sequence=Displayed; Name=2; Synonyms=TMPase, TM-PAP, cellular PAP, cPAP; IsoId=P15309-2; Sequence=VSP_036023; Name=3; IsoId=P15309-3; Sequence=VSP_053360; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000305|PubMed:17638863}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:17638863, ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17638863, ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255}. Note=Appears to shuttle between the cell membrane and intracellular vesicles. Colocalizes with FLOT1 at cell membrane and in intracellular vesicles (PubMed:17638863). Colocalizes with LAMP2 on the lysosome membrane (PubMed:17897319). {ECO:0000269|PubMed:17638863, ECO:0000269|PubMed:17897319}.


uniprotID: P55160
geneSymbol: NCKAP1L
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;R-HSA-6798695;
name: Nck-associated protein 1-like (Hematopoietic protein 1) (Membrane-associated protein HEM-1)
length: 1127
go: ENSG00000123338;
snps: rs7311877 rs2270581
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; SCAR complex [GO:0031209]; secretory granule membrane [GO:0030667]; GTPase activator activity [GO:0005096]; protein kinase activator activity [GO:0030295]; protein-containing complex binding [GO:0044877]; actin polymerization-dependent cell motility [GO:0070358]; B cell homeostasis [GO:0001782]; B cell receptor signaling pathway [GO:0050853]; cell migration [GO:0016477]; cell morphogenesis [GO:0000902]; cell projection assembly [GO:0030031]; chemotaxis [GO:0006935]; cortical actin cytoskeleton organization [GO:0030866]; erythrocyte development [GO:0048821]; erythrocyte homeostasis [GO:0034101]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; maintenance of cell polarity [GO:0030011]; myeloid cell homeostasis [GO:0002262]; negative regulation of apoptotic process [GO:0043066]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of myosin-light-chain-phosphatase activity [GO:0035509]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043372]; positive regulation of CD8-positive, alpha-beta T cell differentiation [GO:0043378]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gamma-delta T cell differentiation [GO:0045588]; positive regulation of lymphocyte differentiation [GO:0045621]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of phosphorylation [GO:0042327]; positive regulation of T cell proliferation [GO:0042102]; protein-containing complex assembly [GO:0065003]; response to drug [GO:0042493]; T cell homeostasis [GO:0043029]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55160-1; Sequence=Displayed; Name=2; IsoId=P55160-2; Sequence=VSP_045191; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16417406}; Single-pass membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:16417406}. Note=Localizes to the leading edge of polarized neutrophils. {ECO:0000269|PubMed:16417406, ECO:0000269|PubMed:17696648}.


uniprotID: Q9HB63
geneSymbol: NTN4
reactome: R-HSA-3000171;R-HSA-373752;
name: Netrin-4 (Beta-netrin) (Hepar-derived netrin-like protein)
length: 628
go: ENSG00000074527;
snps: rs17288108
sequence:

opentargets:
basement membrane [GO:0005604]; plasma membrane [GO:0005886]; laminin-1 binding [GO:0043237]; axon guidance [GO:0007411]; neuron remodeling [GO:0016322]; regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling [GO:0060668]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HB63-1; Sequence=Displayed; Name=2; IsoId=Q9HB63-2; Sequence=VSP_015746; Note=No experimental confirmation available.; Name=3; Synonyms=Hetrin; IsoId=Q9HB63-3; Sequence=VSP_015745; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:11038171}. Note=Major component.


uniprotID: Q96TA1
geneSymbol: FAM129B
name: Niban-like protein 1 (Meg-3) (Melanoma invasion by ERK) (MINERVA) (Protein FAM129B)
length: 746
go: ENSG00000136830;
sequence:

opentargets:
adherens junction [GO:0005912]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; transcription coactivator activity [GO:0003713]; axon guidance [GO:0007411]; cell differentiation [GO:0030154]; gonadotropin secretion [GO:0032274]; hypomethylation of CpG island [GO:0044029]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; positive regulation of embryonic development [GO:0040019]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96TA1-1; Sequence=Displayed; Name=2; IsoId=Q96TA1-2; Sequence=VSP_041810; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell junction, adherens junction. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=In exponentially growing cells, exclusively cytoplasmic. Cell membrane localization is observed when cells reach confluency and during telophase. In melanoma cells, targeting to the plasma membrane may be impaired by C-terminal phosphorylation.


uniprotID: Q12879
geneSymbol: GRIN2A
reactome: R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;R-HSA-6794361;R-HSA-8849932;
pdb: 3NFL;5H8F;5H8H;5H8N;5H8Q;5I2K;5I2N;5KCJ;5KDT;5TP9;5TPA;
length: 1464
go: ENSG00000183454;
name:
Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon-1) (N-methyl D-aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; neuron projection [GO:0043005]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; presynaptic membrane [GO:0042734]; synaptic membrane [GO:0097060]; synaptic vesicle [GO:0008021]; glutamate-gated calcium ion channel activity [GO:0022849]; NMDA glutamate receptor activity [GO:0004972]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity [GO:0097202]; brain development [GO:0007420]; calcium ion transmembrane import into cytosol [GO:0097553]; chemical synaptic transmission [GO:0007268]; directional locomotion [GO:0033058]; dopamine metabolic process [GO:0042417]; excitatory chemical synaptic transmission [GO:0098976]; excitatory postsynaptic potential [GO:0060079]; glutamate receptor signaling pathway [GO:0007215]; learning or memory [GO:0007611]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; memory [GO:0007613]; negative regulation of protein catabolic process [GO:0042177]; neurogenesis [GO:0022008]; positive regulation of apoptotic process [GO:0043065]; positive regulation of long-term synaptic potentiation [GO:1900273]; protein localization to postsynaptic membrane [GO:1903539]; regulation of sensory perception of pain [GO:0051930]; regulation of synaptic plasticity [GO:0048167]; response to amphetamine [GO:0001975]; response to ethanol [GO:0045471]; response to wounding [GO:0009611]; sensory perception of pain [GO:0019233]; serotonin metabolic process [GO:0042428]; sleep [GO:0030431]; startle response [GO:0001964]; visual learning [GO:0008542]

drug:
DB00659;DB06151;DB00289;DB00949;DB00996;DB06741;DB00145;DB01159;DB06738;DB00142;DB01043;DB04896;DB00312;DB00454;DB01174;DB01708;DB00418;DB01520;

snps:
rs587780353 rs868215122 rs148531310 rs199528312 rs568484876 rs148511104 rs761168789 rs149344082 rs1057519551 rs139033056 rs145956175 rs796052543 rs397518470 rs397518468 rs397518450 rs551688681 rs397518447 rs397514557 rs397518471 rs796052548 rs143031592 rs1057519552 rs762659685 rs796052549 rs780654733 rs796052551 rs150316865 rs777684328 rs200037904 rs767268773 rs933322445 rs769602505 rs765370528 rs886039239 rs531782747 rs138809301 rs867432846 rs267604687 rs867464241 rs747136651 rs145063086 rs367543132 rs774419037 rs976259560 rs138415164 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12879-1; Sequence=Displayed; Name=2; IsoId=Q12879-2; Sequence=VSP_044300; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:28105280, ECO:0000269|PubMed:8768735}; Multi-pass membrane protein {ECO:0000305}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q00959}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P48645
geneSymbol: NMU
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
name: Neuromedin-U [Cleaved into: Neuromedin-U-25 (NmU-25)]
length: 174
go: ENSG00000109255;
snps: rs35892915 rs12108463
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MLRTESCRPRSPAGQVAAASPLLLLLLLLAWCAGACRGAPILPQGLQPEQQLQLWNEIDDTCSSFLSIDSQPQASNALEELCFMIMGMLPKPQEQDEKDNTKRFLFHYSKTQKLGKSNVVSSVVHPLLQLVPHLHERRMKRFRVDEEFQSPFASQSRGYFLFRPRNGRRSAGFI

opentargets:
extracellular region [GO:0005576]; terminal bouton [GO:0043195]; neuromedin U receptor binding [GO:0042922]; signaling receptor binding [GO:0005102]; type 1 neuromedin U receptor binding [GO:0031839]; type 2 neuromedin U receptor binding [GO:0031840]; eating behavior [GO:0042755]; energy homeostasis [GO:0097009]; G protein-coupled receptor signaling pathway [GO:0007186]; gastric acid secretion [GO:0001696]; negative regulation of eating behavior [GO:1903999]; negative regulation of gastric acid secretion [GO:0060455]; negative regulation of gastric emptying [GO:0120061]; neuropeptide signaling pathway [GO:0007218]; photoperiodism [GO:0009648]; positive regulation of blood pressure in other organism [GO:0044497]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of heart rate [GO:0010460]; positive regulation of heat generation [GO:0031652]; positive regulation of prolactin secretion [GO:1902722]; positive regulation of sensory perception of pain [GO:1904058]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of stomach fundus smooth muscle contraction [GO:0120069]; positive regulation of synaptic transmission [GO:0050806]; regulation of circadian sleep/wake cycle, sleep [GO:0045187]; regulation of grooming behavior [GO:2000821]; sensory perception of pain [GO:0019233]; temperature homeostasis [GO:0001659]


uniprotID: Q8TCU5
geneSymbol: GRIN3A
length: 1115
go: ENSG00000198785;
name:
Glutamate receptor ionotropic, NMDA 3A (GluN3A) (N-methyl-D-aspartate receptor subtype 3A) (NMDAR3A) (NR3A) (NMDAR-L)

sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; calcium channel activity [GO:0005262]; glycine binding [GO:0016594]; identical protein binding [GO:0042802]; NMDA glutamate receptor activity [GO:0004972]; protein phosphatase 2A binding [GO:0051721]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; calcium ion transport [GO:0006816]; dendrite development [GO:0016358]; prepulse inhibition [GO:0060134]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to ethanol [GO:0045471]

drug:
DB00659;DB06151;DB00915;DB00289;DB01161;DB00514;DB00898;DB00392;DB00949;DB00996;DB06741;DB01159;DB01221;DB06738;DB00142;DB01043;DB00333;DB04896;DB04926;DB01173;DB00312;DB03575;DB01174;DB01708;DB00721;DB01549;DB00418;DB01520;DB00193;

snps:
rs558734093 rs111415222 rs773593066 rs10989591 rs144427058 rs776062103 rs34755188 rs10989589 rs773322226 rs371244839 rs142284927 rs144770241 rs10989563 rs144712629 rs141253502 rs755464674 rs3739722 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. Requires the presence of GRIN1 to be targeted at the plasma membrane (By similarity). {ECO:0000250}.


uniprotID: Q6XQN6
geneSymbol: NAPRT
reactome: R-HSA-197264;R-HSA-6798695;
pdb: 4YUB;
length: 538
go: ENSG00000147813;
snps: rs896950
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17604275}.
name:
Nicotinate phosphoribosyltransferase (NAPRTase) (EC 6.3.4.21) (FHA-HIT-interacting protein) (Nicotinate phosphoribosyltransferase domain-containing protein 1)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; metal ion binding [GO:0046872]; nicotinate phosphoribosyltransferase activity [GO:0004516]; nicotinate-nucleotide diphosphorylase (carboxylating) activity [GO:0004514]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; NAD biosynthetic process [GO:0009435]; NAD salvage [GO:0034355]; neutrophil degranulation [GO:0043312]; nicotinate nucleotide salvage [GO:0019358]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6XQN6-1; Sequence=Displayed; Name=2; IsoId=Q6XQN6-2; Sequence=VSP_030612; Note=No experimental confirmation available.; Name=3; IsoId=Q6XQN6-3; Sequence=VSP_030610; Note=No experimental confirmation available.; 


uniprotID: O75694
geneSymbol: NUP155
pdb: 5A9Q;5IJN;5IJO;
name: Nuclear pore complex protein Nup155 (155 kDa nucleoporin) (Nucleoporin Nup155)
length: 1391
go: ENSG00000113569;
snps: rs587777339
sequence:

opentargets:
membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore inner ring [GO:0044611]; structural constituent of nuclear pore [GO:0017056]; transporter activity [GO:0005215]; atrial cardiac muscle cell action potential [GO:0086014]; mRNA export from nucleus [GO:0006406]; nuclear envelope organization [GO:0006998]; protein import into nucleus [GO:0006606]; protein localization to nuclear inner membrane [GO:0036228]; transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery [GO:0000972]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75694-1; Sequence=Displayed; Name=2; IsoId=O75694-2; Sequence=VSP_014437; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000250|UniProtKB:P37199}. Nucleus membrane {ECO:0000250|UniProtKB:P37199}; Peripheral membrane protein {ECO:0000250|UniProtKB:P37199}; Cytoplasmic side {ECO:0000250|UniProtKB:P37199}. Nucleus membrane {ECO:0000250|UniProtKB:P37199}; Peripheral membrane protein {ECO:0000250|UniProtKB:P37199}; Nucleoplasmic side {ECO:0000250|UniProtKB:P37199}. Note=In mitosis, assumes a diffuse cytoplasmic distribution probably as a monomer, before reversing back into a punctate nuclear surface localization at the end of mitosis. {ECO:0000250|UniProtKB:P37199}.


uniprotID: Q96CB9
geneSymbol: NSUN4
reactome: R-HSA-6793080;
pdb: 4FP9;4FZV;
name: 5-methylcytosine rRNA methyltransferase NSUN4 (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 4)
length: 384
go: ENSG00000117481;
snps: rs3737744 rs17102152 rs13374337 rs9865
sequence:

opentargets:
mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial matrix [GO:0005759]; methyltransferase activity [GO:0008168]; rRNA (cytosine-C5-)-methyltransferase activity [GO:0009383]; small ribosomal subunit rRNA binding [GO:0070181]; mature ribosome assembly [GO:0042256]; positive regulation of mitochondrial translation [GO:0070131]; rRNA methylation [GO:0031167]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96CB9-1; Sequence=Displayed; Name=2; IsoId=Q96CB9-2; Sequence=VSP_025972; Note=No experimental confirmation available.; Name=3; IsoId=Q96CB9-3; Sequence=VSP_025971, VSP_025973; Note=No experimental confirmation available.; Name=4; IsoId=Q96CB9-4; Sequence=VSP_045053; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21531335, ECO:0000269|PubMed:22949673, ECO:0000269|PubMed:23022348}.


uniprotID: Q12908
geneSymbol: SLC10A2
reactome: R-HSA-159418;
length: 348
go: ENSG00000125255;
drug: DB00787;DB02659;DB00091;DB03619;DB02123;DB04348;DB01586;DB00577;
snps: rs55971546 rs60380298 rs188096 rs121917848 rs72547505 rs56398830
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Ileal sodium/bile acid cotransporter (Apical sodium-dependent bile acid transporter) (ASBT) (Ileal Na(+)/bile acid cotransporter) (Ileal sodium-dependent bile acid transporter) (IBAT) (ISBT) (Na(+)-dependent ileal bile acid transporter) (Sodium/taurocholate cotransporting polypeptide, ileal) (Solute carrier family 10 member 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of plasma membrane [GO:0005887]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; bile acid:sodium symporter activity [GO:0008508]; bile acid and bile salt transport [GO:0015721]; response to bacterium [GO:0009617]


uniprotID: Q5VZR2
geneSymbol: NUTM2G
name: NUT family member 2G
length: 741
go: ENSG00000188152;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZR2-1; Sequence=Displayed; Name=2; IsoId=Q5VZR2-2; Sequence=VSP_034023, VSP_034024; 


uniprotID: Q9H857
geneSymbol: NT5DC2
name: 5'-nucleotidase domain-containing protein 2 (EC 3.1.3.-)
length: 520
go: ENSG00000168268;
opentargets: 5'-nucleotidase activity [GO:0008253]; metal ion binding [GO:0046872]
snps: rs35920544
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H857-1; Sequence=Displayed; Name=2; IsoId=Q9H857-2; Sequence=VSP_019952; Note=No experimental confirmation available.; Name=3; IsoId=Q9H857-3; Sequence=VSP_019952, VSP_019953; Note=No experimental confirmation available.; Name=4; IsoId=Q9H857-4; Sequence=VSP_019951; Note=No experimental confirmation available.; 


uniprotID: Q8WUM0
geneSymbol: NUP133
pdb: 1XKS;3CQC;3CQG;3I4R;5A9Q;
name: Nuclear pore complex protein Nup133 (133 kDa nucleoporin) (Nucleoporin Nup133)
length: 1156
go: ENSG00000069248;
snps: rs428231 rs11805194 rs1065674
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nuclear pore outer ring [GO:0031080]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; neural tube development [GO:0021915]; neurogenesis [GO:0022008]; nuclear pore distribution [GO:0031081]; nuclear pore organization [GO:0006999]; paraxial mesoderm development [GO:0048339]; protein import into nucleus [GO:0006606]; somite development [GO:0061053]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:11684705}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11564755}. Note=Located on both the cytoplasmic and nuclear sides of the nuclear pore (PubMed:11564755). During mitosis, localizes to the kinetochores (PubMed:11564755). {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:11684705}.


uniprotID: Q9HC98
geneSymbol: NEK6
reactome: R-HSA-2980767;R-HSA-3301854;
length: 313
go: ENSG00000119408;
name:
Serine/threonine-protein kinase Nek6 (EC 2.7.11.1) (Never in mitosis A-related kinase 6) (NimA-related protein kinase 6) (Protein kinase SID6-1512)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spindle pole [GO:0000922]; activating transcription factor binding [GO:0033613]; ATP binding [GO:0005524]; kinesin binding [GO:0019894]; magnesium ion binding [GO:0000287]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; transcription corepressor binding [GO:0001222]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic nuclear envelope disassembly [GO:0007077]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cellular senescence [GO:2000772]; regulation of mitotic cell cycle [GO:0007346]; regulation of mitotic metaphase/anaphase transition [GO:0030071]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HC98-1; Sequence=Displayed; Name=2; IsoId=Q9HC98-2; Sequence=VSP_041798; Name=3; IsoId=Q9HC98-3; Sequence=VSP_041799; Name=4; IsoId=Q9HC98-4; Sequence=VSP_041800; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus speckle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=Colocalizes with APBB1 at the nuclear speckles. Colocalizes with PIN1 in the nucleus. Colocalizes with ATF4, CIR1, ARHGAP33, ANKRA2, CDC42, NEK9, RAD26L, RBBP6, RPS7, TRIP4, RELB and PHF1 in the centrosome. Localizes to spindle microtubules in metaphase and anaphase and to the midbody during cytokinesis.


uniprotID: Q96JN8
geneSymbol: NEURL4
pdb: 2E63;
name: Neuralized-like protein 4
length: 1562
go: ENSG00000215041;
opentargets: centriole [GO:0005814]
snps: rs3809813
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JN8-1; Sequence=Displayed; Name=2; IsoId=Q96JN8-2; Sequence=VSP_027563; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22261722, ECO:0000269|PubMed:22441691}. Note=Localizes to procentriole and daughter centriole in growing and quiescent cells (PubMed:22441691). May loose association with centrosomes during mitosis (PubMed:22261722). {ECO:0000269|PubMed:22261722, ECO:0000269|PubMed:22441691}.


uniprotID: Q14112
geneSymbol: NID2
reactome: R-HSA-3000157;
name: Nidogen-2 (NID-2) (Osteonidogen)
length: 1375
go: ENSG00000087303;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; basement membrane organization [GO:0071711]; cell adhesion [GO:0007155]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]

snps:
rs3920038 rs17124969 rs35657569 rs2101919 rs17831525 rs3742536 rs35147930 rs2273430 rs10134590 rs7144523 rs28507587 rs1305582875 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14112-1; Sequence=Displayed; Name=2; IsoId=Q14112-2; Sequence=VSP_038779, VSP_038780; Note=No experimental confirmation available.; 


uniprotID: Q9GZT8
geneSymbol: NIF3L1
name: NIF3-like protein 1 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein)
length: 377
go: ENSG00000196290;
snps: rs7917
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; transcription factor binding [GO:0008134]; negative regulation of nucleic acid-templated transcription [GO:1903507]; neuron differentiation [GO:0030182]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9GZT8-1; Sequence=Displayed; Name=2; IsoId=Q9GZT8-2; Sequence=VSP_029328; Name=3; Synonyms=beta; IsoId=Q9GZT8-3; Sequence=VSP_043248; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11124544, ECO:0000269|PubMed:12951069}. Nucleus {ECO:0000250|UniProtKB:Q9EQ80}. Note=Interaction with COPS2 may regulate localization to the nucleus. {ECO:0000250|UniProtKB:Q9EQ80}.


uniprotID: Q16649
geneSymbol: NFIL3
reactome: R-HSA-400253;
length: 462
go: ENSG00000165030;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}.
name:
Nuclear factor interleukin-3-regulated protein (E4 promoter-binding protein 4) (Interleukin-3 promoter transcriptional activator) (Interleukin-3-binding protein 1) (Transcriptional activator NF-IL3A)

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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; cellular response to interleukin-4 [GO:0071353]; circadian rhythm [GO:0007623]; immune response [GO:0006955]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of gene expression [GO:0010628]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q13224
geneSymbol: GRIN2B
pdb: 1S11;1S2S;2IPV;5EWJ;5EWL;5EWM;
length: 1484
go: ENSG00000273079;
reactome:
R-HSA-3928662;R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;R-HSA-6794361;R-HSA-8849932;R-HSA-9032500;

name:
Glutamate receptor ionotropic, NMDA 2B (GluN2B) (Glutamate [NMDA] receptor subunit epsilon-2) (N-methyl D-aspartate receptor subtype 2B) (NMDAR2B) (NR2B) (N-methyl-D-aspartate receptor subunit 3) (NR3) (hNR3)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; neuron projection [GO:0043005]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; postsynaptic membrane [GO:0045211]; synaptic membrane [GO:0097060]; glutamate binding [GO:0016595]; glutamate-gated calcium ion channel activity [GO:0022849]; glycine binding [GO:0016594]; NMDA glutamate receptor activity [GO:0004972]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; zinc ion binding [GO:0008270]; brain development [GO:0007420]; calcium ion transmembrane import into cytosol [GO:0097553]; chemical synaptic transmission [GO:0007268]; ephrin receptor signaling pathway [GO:0048013]; excitatory chemical synaptic transmission [GO:0098976]; excitatory postsynaptic potential [GO:0060079]; glutamate receptor signaling pathway [GO:0007215]; learning or memory [GO:0007611]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; multicellular organism development [GO:0007275]; negative regulation of dendritic spine maintenance [GO:1902951]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of neuron death [GO:1901216]; protein heterotetramerization [GO:0051290]; regulation of synaptic plasticity [GO:0048167]; response to ethanol [GO:0045471]

drug:
DB00659;DB06151;DB00289;DB00949;DB00996;DB06741;DB00502;DB08954;DB06738;DB00142;DB01043;DB04896;DB00312;DB00454;DB01174;DB01708;DB00418;DB01520;

snps:
rs1057519553 rs201094029 rs138098032 rs527236034 rs397514555 rs672601378 rs397514556 rs672601377 rs672601376 rs387906636 rs201963596 rs201463390 rs748128078 rs758042475 rs756790727 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:28126851, ECO:0000269|PubMed:8768735}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q00960}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q00960}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q00960}.


uniprotID: Q9Y3T9
geneSymbol: NOC2L
reactome: R-HSA-6804756;
length: 749
go: ENSG00000188976;
snps: rs3828049 rs3748597 rs35471880
name:
Nucleolar complex protein 2 homolog (Protein NOC2 homolog) (NOC2-like protein) (Novel INHAT repressor)

sequence:

opentargets:
cytosol [GO:0005829]; Noc1p-Noc2p complex [GO:0030690]; Noc2p-Noc3p complex [GO:0030691]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; nucleosome binding [GO:0031491]; repressing transcription factor binding [GO:0070491]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; apoptotic process [GO:0006915]; cellular response to UV [GO:0034644]; chromatin assembly [GO:0031497]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of histone acetylation [GO:0035067]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of signal transduction by p53 class mediator [GO:1901796]; ribosomal large subunit biogenesis [GO:0042273]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Translocates from the nucleoli to the nucleoplasm in presence of several stressors like ultraviolet irradiation and actinomycin-D. Predominantly detected in the nucleoli in non-mitotic cells. Predominantly detected in nucleoplasma in cells undergoing mitosis.


uniprotID: Q9BX97
geneSymbol: PLVAP
length: 442
go: ENSG00000130300;
name:
Plasmalemma vesicle-associated protein (Fenestrated endothelial-linked structure protein) (Plasmalemma vesicle protein 1) (PV-1)

sequence:

opentargets:
caveola [GO:0005901]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; protein homodimerization activity [GO:0042803]; MAPK cascade [GO:0000165]; positive regulation of cellular extravasation [GO:0002693]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9WV78}; Single-pass type II membrane protein {ECO:0000255}. Membrane, caveola {ECO:0000250|UniProtKB:Q9WV78}; Single-pass type II membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9WV78}. Note=Membrane-associated protein of caveolae. Found in fenestral and stomatal diaphragms in fenestrated endothelia and transendothelial channels. Also colocalized with CAV1 in perinuclear region. {ECO:0000250|UniProtKB:Q9WV78}.


uniprotID: P51513
geneSymbol: NOVA1
pdb: 1DT4;2ANN;2ANR;
length: 510
go: ENSG00000139910;
location: SUBCELLULAR LOCATION: Nucleus.
name:
RNA-binding protein Nova-1 (Neuro-oncological ventral antigen 1) (Onconeural ventral antigen 1) (Paraneoplastic Ri antigen) (Ventral neuron-specific protein 1)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; chemical synaptic transmission [GO:0007268]; locomotory behavior [GO:0007626]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of cold-induced thermogenesis [GO:0120163]; regulation of RNA metabolic process [GO:0051252]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P51513-1; Sequence=Displayed; Name=2; Synonyms=Tumor; IsoId=P51513-2; Sequence=VSP_002841, VSP_002843, VSP_002844; Name=3; IsoId=P51513-3; Sequence=VSP_002842; Name=4; IsoId=P51513-4; Sequence=VSP_002841; Name=5; IsoId=P51513-5; Sequence=VSP_002841, VSP_002842; Note=Gene prediction based on EST data.; 


uniprotID: O60287
geneSymbol: URB1
length: 2271
go: ENSG00000142207;
snps: rs3761342 rs762225
name:
Nucleolar pre-ribosomal-associated protein 1 (Nucleolar protein 254 kDa) (URB1 ribosome biogenesis 1 homolog)

sequence:

opentargets:
fibrillar center [GO:0001650]; nucleolus [GO:0005730]; RNA binding [GO:0003723]; maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000466]; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000463]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:16963496}.


uniprotID: P46531
geneSymbol: NOTCH1
length: 2555
go: ENSG00000148400;
snps: rs11574885 rs587777736 rs11574895 rs587781259 rs2229968 rs587777734
reactome:
R-HSA-1912399;R-HSA-1912408;R-HSA-1912420;R-HSA-210744;R-HSA-2122947;R-HSA-2122948;R-HSA-2644606;R-HSA-2644607;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-350054;R-HSA-5083630;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

pdb:
1PB5;1TOZ;1YYH;2F8X;2F8Y;2HE0;2VJ3;3ETO;3I08;3L95;3NBN;3V79;4CUD;4CUE;4CUF;4D0E;4D0F;5FM9;5FMA;5KZO;5L0R;5UB5;

name:
Neurogenic locus notch homolog protein 1 (Notch 1) (hN1) (Translocation-associated notch protein TAN-1) [Cleaved into: Notch 1 extracellular truncation (NEXT); Notch 1 intracellular domain (NICD)]

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; adherens junction [GO:0005912]; apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; MAML1-RBP-Jkappa- ICN1 complex [GO:0002193]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; calcium ion binding [GO:0005509]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; Notch binding [GO:0005112]; protein heterodimerization activity [GO:0046982]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transmembrane signaling receptor activity [GO:0004888]; animal organ regeneration [GO:0031100]; aortic valve morphogenesis [GO:0003180]; apoptotic process involved in embryonic digit morphogenesis [GO:1902263]; arterial endothelial cell differentiation [GO:0060842]; astrocyte differentiation [GO:0048708]; atrioventricular node development [GO:0003162]; atrioventricular valve morphogenesis [GO:0003181]; auditory receptor cell fate commitment [GO:0009912]; axonogenesis [GO:0007409]; branching morphogenesis of an epithelial tube [GO:0048754]; cardiac atrium morphogenesis [GO:0003209]; cardiac chamber formation [GO:0003207]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac left ventricle morphogenesis [GO:0003214]; cardiac muscle cell proliferation [GO:0060038]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac right atrium morphogenesis [GO:0003213]; cardiac right ventricle formation [GO:0003219]; cardiac septum morphogenesis [GO:0060411]; cardiac vascular smooth muscle cell development [GO:0060948]; cardiac ventricle morphogenesis [GO:0003208]; cell cycle arrest [GO:0007050]; cell differentiation in spinal cord [GO:0021515]; cell fate specification [GO:0001708]; cell migration involved in endocardial cushion formation [GO:0003273]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; cilium assembly [GO:0060271]; collecting duct development [GO:0072044]; compartment pattern specification [GO:0007386]; coronary artery morphogenesis [GO:0060982]; coronary sinus valve morphogenesis [GO:0003182]; coronary vein morphogenesis [GO:0003169]; determination of left/right symmetry [GO:0007368]; distal tubule development [GO:0072017]; embryonic hindlimb morphogenesis [GO:0035116]; endocardial cell differentiation [GO:0060956]; endocardial cushion morphogenesis [GO:0003203]; endocardium development [GO:0003157]; endocardium morphogenesis [GO:0003160]; endoderm development [GO:0007492]; epithelial to mesenchymal transition [GO:0001837]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; forebrain development [GO:0030900]; foregut morphogenesis [GO:0007440]; glomerular mesangial cell development [GO:0072144]; growth involved in heart morphogenesis [GO:0003241]; hair follicle morphogenesis [GO:0031069]; heart development [GO:0007507]; heart looping [GO:0001947]; heart trabecula morphogenesis [GO:0061384]; homeostasis of number of cells within a tissue [GO:0048873]; humoral immune response [GO:0006959]; immune response [GO:0006955]; in utero embryonic development [GO:0001701]; inflammatory response to antigenic stimulus [GO:0002437]; interleukin-4 secretion [GO:0072602]; keratinocyte differentiation [GO:0030216]; left/right axis specification [GO:0070986]; liver development [GO:0001889]; lung development [GO:0030324]; mesenchymal cell development [GO:0014031]; mitral valve formation [GO:0003192]; negative regulation of anoikis [GO:2000811]; negative regulation of biomineral tissue development [GO:0070168]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of catalytic activity [GO:0043086]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell proliferation involved in heart valve morphogenesis [GO:0003252]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of endothelial cell chemotaxis [GO:2001027]; negative regulation of extracellular matrix constituent secretion [GO:0003332]; negative regulation of gene expression [GO:0010629]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of growth rate [GO:0045967]; negative regulation of inner ear auditory receptor cell differentiation [GO:0045608]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of neurogenesis [GO:0050768]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of ossification [GO:0030279]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of photoreceptor cell differentiation [GO:0046533]; negative regulation of pro-B cell differentiation [GO:2000974]; negative regulation of stem cell differentiation [GO:2000737]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neural tube development [GO:0021915]; neuronal stem cell population maintenance [GO:0097150]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation [GO:0003270]; oligodendrocyte differentiation [GO:0048709]; outflow tract morphogenesis [GO:0003151]; pericardium morphogenesis [GO:0003344]; positive regulation of aorta morphogenesis [GO:1903849]; positive regulation of apoptotic process involved in morphogenesis [GO:1902339]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cardiac epithelial to mesenchymal transition [GO:0062043]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061419]; positive regulation of transcription of Notch receptor target [GO:0007221]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of viral genome replication [GO:0045070]; prostate gland epithelium morphogenesis [GO:0060740]; pulmonary valve morphogenesis [GO:0003184]; regulation of epithelial cell proliferation involved in prostate gland development [GO:0060768]; regulation of extracellular matrix assembly [GO:1901201]; regulation of somitogenesis [GO:0014807]; regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003256]; regulation of transcription, DNA-templated [GO:0006355]; response to corticosteroid [GO:0031960]; response to lipopolysaccharide [GO:0032496]; response to muramyl dipeptide [GO:0032495]; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development [GO:0060528]; skeletal muscle cell differentiation [GO:0035914]; somatic stem cell division [GO:0048103]; spermatogenesis [GO:0007283]; sprouting angiogenesis [GO:0002040]; tissue regeneration [GO:0042246]; transcription initiation from RNA polymerase II promoter [GO:0006367]; tube formation [GO:0035148]; vasculogenesis involved in coronary vascular morphogenesis [GO:0060979]; venous endothelial cell differentiation [GO:0060843]; ventricular septum morphogenesis [GO:0060412]; ventricular trabecula myocardium morphogenesis [GO:0003222]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q01705}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q01705}.; SUBCELLULAR LOCATION: Notch 1 intracellular domain: Nucleus {ECO:0000250|UniProtKB:Q01705}. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10. {ECO:0000250|UniProtKB:Q01705}.


uniprotID: Q9BY65
geneSymbol: NPCDR1
length: 106
name:
Nasopharyngeal carcinoma down-regulated gene protein 1 (NPCDRG) (Nasopharyngeal carcinoma-related gene protein)

sequence:
MPTVKTRKLNSLELTYLAQGHTMSEWGNLDMDFSLPELRADQRLCLNFQDPFLPLVDAHGIEKCRAFSFSVEKFCLPLVMKGILQKGVSPLNSSIDYGRLAKKESL


uniprotID: Q9NPH5
geneSymbol: NOX4
reactome: R-HSA-3299685;
length: 578
go: ENSG00000086991;
snps: rs317139
name:
NADPH oxidase 4 (EC 1.6.3.-) (Kidney oxidase-1) (KOX-1) (Kidney superoxide-producing NADPH oxidase) (Renal NAD(P)H-oxidase)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; endoplasmic reticulum membrane [GO:0005789]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; NADPH oxidase complex [GO:0043020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; perinuclear region of cytoplasm [GO:0048471]; stress fiber [GO:0001725]; electron transfer activity [GO:0009055]; flavin adenine dinucleotide binding [GO:0050660]; heme binding [GO:0020037]; modified amino acid binding [GO:0072341]; NAD(P)H oxidase activity [GO:0016174]; nucleotide binding [GO:0000166]; oxygen sensor activity [GO:0019826]; protein tyrosine kinase binding [GO:1990782]; superoxide-generating NADPH oxidase activity [GO:0016175]; bone resorption [GO:0045453]; cardiac muscle cell differentiation [GO:0055007]; cell aging [GO:0007569]; cell morphogenesis [GO:0000902]; cellular response to cAMP [GO:0071320]; cellular response to gamma radiation [GO:0071480]; cellular response to glucose stimulus [GO:0071333]; cellular response to oxidative stress [GO:0034599]; cellular response to transforming growth factor beta stimulus [GO:0071560]; gene expression [GO:0010467]; heart process [GO:0003015]; homocysteine metabolic process [GO:0050667]; inflammatory response [GO:0006954]; negative regulation of cell proliferation [GO:0008285]; oxidation-reduction process [GO:0055114]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of stress fiber assembly [GO:0051496]; reactive oxygen species biosynthetic process [GO:1903409]; reactive oxygen species metabolic process [GO:0072593]; response to hypoxia [GO:0001666]; superoxide anion generation [GO:0042554]; superoxide metabolic process [GO:0006801]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q9NPH5-1; Sequence=Displayed; Name=2; Synonyms=Nox4A; IsoId=Q9NPH5-2; Sequence=VSP_019052; Name=3; Synonyms=Nox4E; IsoId=Q9NPH5-3; Sequence=VSP_019053, VSP_019058; Name=4; Synonyms=28 kDa, Nox4D; IsoId=Q9NPH5-4; Sequence=VSP_019053; Name=5; Synonyms=Nox4C; IsoId=Q9NPH5-5; Sequence=VSP_019056, VSP_019057; Name=6; Synonyms=Nox4B; IsoId=Q9NPH5-6; Sequence=VSP_019058; Name=7; IsoId=Q9NPH5-7; Sequence=VSP_019054, VSP_019055; Name=8; IsoId=Q9NPH5-8; Sequence=VSP_053826; Name=9; IsoId=Q9NPH5-9; Sequence=VSP_053826, VSP_019058; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell junction, focal adhesion {ECO:0000305}. Note=May localize to plasma membrane and focal adhesions. According to PubMed:15927447, may also localize to the nucleus.; SUBCELLULAR LOCATION: Isoform 4: Nucleus {ECO:0000269|PubMed:23393389}. Nucleus, nucleolus {ECO:0000269|PubMed:23393389}.


uniprotID: E5RHQ5
geneSymbol: NPIPB11
name: Nuclear pore complex-interacting protein family member B11
length: 1161
go: ENSG00000254206;
opentargets: integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y4D7
geneSymbol: PLXND1
reactome: R-HSA-416700;R-HSA-9013508;
pdb: 3H6N;
name: Plexin-D1
length: 1925
go: ENSG00000004399;
snps: rs2285372 rs2255703 rs2625962 rs2625973 rs2713625
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; protein domain specific binding [GO:0019904]; semaphorin receptor activity [GO:0017154]; angiogenesis [GO:0001525]; aorta development [GO:0035904]; branching involved in blood vessel morphogenesis [GO:0001569]; cardiac septum development [GO:0003279]; coronary vasculature development [GO:0060976]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; endothelial cell migration [GO:0043542]; negative regulation of cell adhesion [GO:0007162]; outflow tract morphogenesis [GO:0003151]; positive regulation of axonogenesis [GO:0050772]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription of Notch receptor target [GO:0007221]; regulation of angiogenesis [GO:0045765]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y4D7-1; Sequence=Displayed; Name=2; IsoId=Q9Y4D7-2; Sequence=VSP_011516; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q3UH93}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q3UH93}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:24841563}.


uniprotID: Q17RQ9
geneSymbol: NKPD1
name: NTPase KAP family P-loop domain-containing protein 1
length: 610
go: ENSG00000179846;
opentargets: integral component of membrane [GO:0016021]
snps: rs3810144
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P30414
geneSymbol: NKTR
pdb: 2HE9;
length: 1462
go: ENSG00000114857;
snps: rs35726114 rs33969824 rs35770315 rs34897686
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8421688}.
name:
NK-tumor recognition protein (NK-TR protein) (Natural-killer cells cyclophilin-related protein) (Peptidyl-prolyl cis-trans isomerase NKTR) (PPIase) (EC 5.2.1.8) (Rotamase)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; unfolded protein binding [GO:0051082]; protein peptidyl-prolyl isomerization [GO:0000413]; protein refolding [GO:0042026]


uniprotID: P43699
geneSymbol: NKX2-1
length: 371
go: ENSG00000136352;
snps: rs137852692 rs28936672 rs28936671 rs537209983
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P50220}.
name:
Homeobox protein Nkx-2.1 (Homeobox protein NK-2 homolog A) (Thyroid nuclear factor 1) (Thyroid transcription factor 1) (TTF-1) (Thyroid-specific enhancer-binding protein) (T/EBP)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; intronic transcription regulatory region DNA binding [GO:0044213]; intronic transcription regulatory region sequence-specific DNA binding [GO:0001161]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region DNA binding [GO:0001012]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; anatomical structure formation involved in morphogenesis [GO:0048646]; axon guidance [GO:0007411]; brain development [GO:0007420]; cerebral cortex cell migration [GO:0021795]; cerebral cortex GABAergic interneuron differentiation [GO:0021892]; Clara cell differentiation [GO:0060486]; developmental induction [GO:0031128]; endoderm development [GO:0007492]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; forebrain development [GO:0030900]; forebrain dorsal/ventral pattern formation [GO:0021798]; forebrain neuron fate commitment [GO:0021877]; globus pallidus development [GO:0021759]; hippocampus development [GO:0021766]; Leydig cell differentiation [GO:0033327]; locomotory behavior [GO:0007626]; lung development [GO:0030324]; lung saccule development [GO:0060430]; negative regulation of cell migration [GO:0030336]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neuron migration [GO:0001764]; oligodendrocyte differentiation [GO:0048709]; phospholipid metabolic process [GO:0006644]; pituitary gland development [GO:0021983]; positive regulation of circadian rhythm [GO:0042753]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; response to hormone [GO:0009725]; rhythmic process [GO:0048511]; thyroid gland development [GO:0030878]; type II pneumocyte differentiation [GO:0060510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43699-1; Sequence=Displayed; Name=3; IsoId=P43699-3; Sequence=VSP_037890; 


uniprotID: O60936
geneSymbol: NOL3
pdb: 4UZ0;
length: 208
go: ENSG00000140939;
snps: rs397514600 rs780601409
name:
Nucleolar protein 3 (Apoptosis repressor with CARD) (Muscle-enriched cytoplasmic protein) (Myp) (Nucleolar protein of 30 kDa) (Nop30)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; sarcoplasmic reticulum [GO:0016529]; calcium ion binding [GO:0005509]; caspase binding [GO:0089720]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; death effector domain binding [GO:0035877]; death receptor binding [GO:0005123]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; blood vessel remodeling [GO:0001974]; cardiac muscle cell apoptotic process [GO:0010659]; inhibition of cysteine-type endopeptidase activity involved in apoptotic process [GO:1990001]; intrinsic apoptotic signaling pathway [GO:0097193]; mRNA splice site selection [GO:0006376]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway [GO:1903298]; negative regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902109]; negative regulation of muscle atrophy [GO:0014736]; negative regulation of necrotic cell death [GO:0060547]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; protein complex oligomerization [GO:0051259]; regulation of NIK/NF-kappaB signaling [GO:1901222]; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0014808]; response to hypoxia [GO:0001666]; response to injury involved in regulation of muscle adaptation [GO:0014876]; response to ischemia [GO:0002931]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2 {ECO:0000305}; Synonyms=Myp {ECO:0000303|PubMed:10196175}; IsoId=O60936-2; Sequence=Displayed; Name=1 {ECO:0000305}; Synonyms=Nop30 {ECO:0000303|PubMed:10196175}; IsoId=O60936-1; Sequence=VSP_057515; Name=3 {ECO:0000305}; IsoId=O60936-3; Sequence=VSP_054607; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus {ECO:0000269|PubMed:10196175}. Note=The SR-rich C-terminus mediates nuclear localization. {ECO:0000269|PubMed:10196175}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:10196175}. Mitochondrion {ECO:0000250|UniProtKB:Q62881}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:Q62881}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Phosphorylation at Thr-149 results in translocation to mitochondria. Colocalized with mitochondria in response to oxidative stress. {ECO:0000250|UniProtKB:Q62881}.


uniprotID: Q15155
geneSymbol: NOMO1
name: Nodal modulator 1 (pM5 protein)
length: 1222
go: ENSG00000103512;
snps: rs2561962 rs1345150579 rs1062412 rs141860762 rs17356851 rs17855981 rs200317822 rs376397163 rs9330
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; carbohydrate binding [GO:0030246]


uniprotID: Q9H6R4
geneSymbol: NOL6
reactome: R-HSA-6790901;R-HSA-6791226;
name: Nucleolar protein 6 (Nucleolar RNA-associated protein) (Nrap)
length: 1146
go: ENSG00000165271;
snps: rs10971523 rs35135082
sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; CURI complex [GO:0032545]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; UTP-C complex [GO:0034456]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]; tRNA export from nucleus [GO:0006409]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Alpha, Long; IsoId=Q9H6R4-1; Sequence=Displayed; Name=2; Synonyms=Beta, Mid; IsoId=Q9H6R4-2; Sequence=VSP_013532; Name=3; Synonyms=Gamma, Short; IsoId=Q9H6R4-3; Sequence=VSP_013531; Name=4; IsoId=Q9H6R4-4; Sequence=VSP_013530; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Chromosome {ECO:0000250}. Note=Localizes to condensed chromosomes in mitosis. {ECO:0000250}.


uniprotID: Q9UMY1
geneSymbol: NOL7
name: Nucleolar protein 7 (Nucleolar protein of 27 kDa)
length: 257
go: ENSG00000225921;
opentargets: mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UMY1-1; Sequence=Displayed; Name=2; IsoId=Q9UMY1-2; Sequence=VSP_014791, VSP_014792; Note=Gene prediction based on EST data. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11790298, ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:16205646}.


uniprotID: Q9NZM5
geneSymbol: NOP53
length: 478
go: ENSG00000105373;
snps: rs1042401 rs1804994
name:
Ribosome biogenesis protein NOP53 (Glioma tumor suppressor candidate region gene 2 protein) (Protein interacting with carboxyl terminus 1) (PICT-1) (p60)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; intracellular [GO:0005622]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; 5S rRNA binding [GO:0008097]; identical protein binding [GO:0042802]; p53 binding [GO:0002039]; RNA binding [GO:0003723]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hypoxia [GO:0071456]; DNA repair [GO:0006281]; mitotic G2 DNA damage checkpoint [GO:0007095]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of signal transduction by p53 class mediator [GO:1901797]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901837]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein K63-linked deubiquitination [GO:1903006]; protein localization to nucleolus [GO:1902570]; protein localization to nucleoplasm [GO:1990173]; protein stabilization [GO:0050821]; regulation of aerobic respiration [GO:1903715]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]; regulation of protein phosphorylation [GO:0001932]; regulation of RIG-I signaling pathway [GO:0039535]; regulation of signal transduction by p53 class mediator [GO:1901796]; ribosomal large subunit assembly [GO:0000027]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10196275, ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:20042497, ECO:0000269|PubMed:22292050, ECO:0000269|PubMed:22522597, ECO:0000269|PubMed:24923447, ECO:0000269|PubMed:25956029, ECO:0000269|PubMed:27729611, ECO:0000269|PubMed:27829214}. Nucleus, nucleoplasm {ECO:0000269|PubMed:22522597, ECO:0000269|PubMed:24923447, ECO:0000269|PubMed:26903295, ECO:0000269|PubMed:27323397}. Note=In the nucleolus may be more specifically localized to the fibrillar center (PubMed:27729611). Mainly nucleolar it relocalizes to the nucleoplasm under specific conditions including ribosomal stress enabling it to interact and regulate nucleoplasmic proteins like p53/TP53 (PubMed:22522597, PubMed:24923447, PubMed:27323397, PubMed:26903295). Also detected in the cytosol (PubMed:24923447, PubMed:27824081). {ECO:0000269|PubMed:22522597, ECO:0000269|PubMed:24923447, ECO:0000269|PubMed:26903295, ECO:0000269|PubMed:27323397, ECO:0000269|PubMed:27729611, ECO:0000269|PubMed:27824081}.


uniprotID: Q96P11
geneSymbol: NSUN5
pdb: 2B9E;
length: 429
go: ENSG00000130305;
snps: rs34913552
name:
Probable 28S rRNA (cytosine-C(5))-methyltransferase (EC 2.1.1.-) (NOL1-related protein) (NOL1R) (NOL1/NOP2/Sun domain family member 5) (Williams-Beuren syndrome chromosomal region 20A protein)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; methyltransferase activity [GO:0008168]; RNA binding [GO:0003723]; rRNA base methylation [GO:0070475]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96P11-1; Sequence=Displayed; Name=2; IsoId=Q96P11-2; Sequence=VSP_021756; Name=3; IsoId=Q96P11-3; Sequence=VSP_021752, VSP_021753, VSP_021754, VSP_021755; Name=4; IsoId=Q96P11-4; Sequence=VSP_043352; Note=No experimental confirmation available.; Name=5; IsoId=Q96P11-5; Sequence=VSP_045492; Note=No experimental confirmation available.; 


uniprotID: Q8NE18
geneSymbol: NSUN7
name: Putative methyltransferase NSUN7 (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 7)
length: 718
go: ENSG00000179299;
opentargets: methyltransferase activity [GO:0008168]; RNA binding [GO:0003723]
snps: rs2437323 rs4861066
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NE18-1; Sequence=Displayed; Name=2; IsoId=Q8NE18-2; Sequence=VSP_025978, VSP_025979; Note=No experimental confirmation available.; Name=3; IsoId=Q8NE18-3; Sequence=VSP_025976, VSP_025977; Note=No experimental confirmation available.; 


uniprotID: P34130
geneSymbol: NTF4
reactome: R-HSA-9026357;R-HSA-9026519;R-HSA-9026527;R-HSA-9028335;R-HSA-9028731;
pdb: 1B8M;1B98;1HCF;
name: Neurotrophin-4 (NT-4) (Neurotrophin-5) (NT-5) (Neutrophic factor 4)
length: 210
go: ENSG00000225950;
drug: DB05066;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
axon [GO:0030424]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; synaptic vesicle [GO:0008021]; growth factor activity [GO:0008083]; activation of phospholipase C activity [GO:0007202]; adult locomotory behavior [GO:0008344]; epidermis development [GO:0008544]; ganglion mother cell fate determination [GO:0007402]; innervation [GO:0060384]; long-term memory [GO:0007616]; mechanoreceptor differentiation [GO:0042490]; memory [GO:0007613]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of neuron apoptotic process [GO:0043524]; nerve development [GO:0021675]; nerve growth factor signaling pathway [GO:0038180]; neuron projection morphogenesis [GO:0048812]; neurotrophin TRK receptor signaling pathway [GO:0048011]; peripheral nervous system development [GO:0007422]; regulation of neuron differentiation [GO:0045664]; sensory organ boundary specification [GO:0008052]; taste bud development [GO:0061193]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

snps:
rs756962734 rs61732310 rs374367338 rs751743400 rs766504681 rs377553005 rs977260366 rs201069064 rs121918428 rs121918427 rs371861346 rs200675509 


uniprotID: P03891
geneSymbol: MT-ND2
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 2 (EC 7.1.1.2) (NADH dehydrogenase subunit 2)
length: 347
go: ENSG00000198763;
drug: DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; postsynaptic density [GO:0014069]; ionotropic glutamate receptor binding [GO:0035255]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; protein kinase binding [GO:0019901]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; reactive oxygen species metabolic process [GO:0072593]

snps:
rs1117207 rs41510547 rs201854167 rs28357980 rs879058895 rs28357984 rs199476115 rs370378529 rs41320049 rs878853115 rs3020601 rs3021088 


uniprotID: P35658
geneSymbol: NUP214
pdb: 2OIT;3FHC;3FMO;3FMP;5DIS;
name: Nuclear pore complex protein Nup214 (214 kDa nucleoporin) (Nucleoporin Nup214) (Protein CAN)
length: 2090
go: ENSG00000126883;
snps: rs103612 rs777822003 rs28594669
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-450520;R-HSA-4551638;R-HSA-4570464;R-HSA-4615885;R-HSA-5578749;R-HSA-6784531;

sequence:

opentargets:
cytoplasmic side of nuclear pore [GO:1990876]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear export signal receptor activity [GO:0005049]; nuclear localization sequence binding [GO:0008139]; structural constituent of nuclear pore [GO:0017056]; mitotic cell cycle [GO:0000278]; mRNA export from nucleus [GO:0006406]; protein export from nucleus [GO:0006611]; protein import into nucleus [GO:0006606]; regulation of cell cycle [GO:0051726]; regulation of mRNA stability [GO:0043488]; regulation of nucleocytoplasmic transport [GO:0046822]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P35658-1; Sequence=Displayed; Name=2; IsoId=P35658-2; Sequence=VSP_034896; Note=No experimental confirmation available.; Name=3; IsoId=P35658-3; Sequence=VSP_034897; Note=No experimental confirmation available.; Name=4; IsoId=P35658-4; Sequence=VSP_034896, VSP_034897; Name=5; IsoId=P35658-5; Sequence=VSP_034896, VSP_034898, VSP_034899; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:8108440}. Note=Cytoplasmic side of the nuclear pore complex. {ECO:0000269|PubMed:8108440}.


uniprotID: B1AL46
geneSymbol: NUTM2E
name: NUT family member 2E
length: 878
go: ENSG00000228570;
sequence:


uniprotID: Q5TFE4
geneSymbol: NT5DC1
name: 5'-nucleotidase domain-containing protein 1 (EC 3.1.3.-)
length: 455
go: ENSG00000178425;
opentargets: 5'-nucleotidase activity [GO:0008253]; metal ion binding [GO:0046872]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TFE4-1; Sequence=Displayed; Name=2; IsoId=Q5TFE4-2; Sequence=VSP_054236; Note=No experimental confirmation available.; 


uniprotID: Q86SG6
geneSymbol: NEK8
length: 692
go: ENSG00000160602;
snps: rs199962228 rs118204032 rs146326420
name:
Serine/threonine-protein kinase Nek8 (EC 2.7.11.1) (Never in mitosis A-related kinase 8) (NimA-related protein kinase 8) (Nima-related protein kinase 12a)

sequence:

opentargets:
ciliary base [GO:0097546]; ciliary inversin compartment [GO:0097543]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; animal organ morphogenesis [GO:0009887]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; regulation of hippo signaling [GO:0035330]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton. Cell projection, cilium {ECO:0000250}. Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.


uniprotID: Q8TB73
geneSymbol: NDNF
name: Protein NDNF (Neuron-derived neurotrophic factor)
length: 568
go: ENSG00000173376;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20969804, ECO:0000269|PubMed:24706764}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; intracellular [GO:0005622]; glycosaminoglycan binding [GO:0005539]; heparin binding [GO:0008201]; angiogenesis [GO:0001525]; cellular response to hypoxia [GO:0071456]; extracellular matrix organization [GO:0030198]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of neuron apoptotic process [GO:0043524]; neuron migration [GO:0001764]; nitric oxide mediated signal transduction [GO:0007263]; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan [GO:0019800]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of neuron projection development [GO:0010976]; response to ischemia [GO:0002931]; vascular wound healing [GO:0061042]


uniprotID: Q8N4C6
geneSymbol: NIN
name: Ninein (hNinein) (Glycogen synthase kinase 3 beta-interacting protein) (GSK3B-interacting protein)
length: 2090
go: ENSG00000100503;
snps: rs2236316 rs12882191 rs187464517 rs2073347 rs387907308 rs12717411 rs2295847
sequence:

opentargets:
apical part of cell [GO:0045177]; axonal growth cone [GO:0044295]; centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary transition fiber [GO:0097539]; dendrite [GO:0030425]; microtubule minus-end [GO:0036449]; mitotic spindle [GO:0072686]; mitotic spindle pole [GO:0097431]; nucleolus [GO:0005730]; nucleus [GO:0005634]; pericentriolar material [GO:0000242]; plasma membrane [GO:0005886]; spindle pole [GO:0000922]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; kinase binding [GO:0019900]; centriole-centriole cohesion [GO:0010457]; centrosome localization [GO:0051642]; centrosome-templated microtubule nucleation [GO:0090222]; collateral sprouting [GO:0048668]; corpus callosum morphogenesis [GO:0021540]; corticospinal tract morphogenesis [GO:0021957]; microtubule anchoring at centrosome [GO:0034454]; positive regulation of axonogenesis [GO:0050772]; positive regulation of microtubule polymerization [GO:0031116]; protein localization [GO:0008104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Lm; IsoId=Q8N4C6-1; Sequence=Displayed; Name=2; Synonyms=Isotype 3; IsoId=Q8N4C6-2; Sequence=VSP_010952; Note=Dubious isoform produced through aberrant splice sites.; Name=3; Synonyms=Isotype 2; IsoId=Q8N4C6-10; Sequence=VSP_010952, VSP_010960; Note=Dubious isoform produced through aberrant splice sites.; Name=4; Synonyms=Isotype 1; IsoId=Q8N4C6-4; Sequence=VSP_010952, VSP_010957, VSP_010958; Note=Dubious isoform produced through aberrant splice sites.; Name=5; IsoId=Q8N4C6-5; Sequence=VSP_010950; Name=6; IsoId=Q8N4C6-6; Sequence=VSP_010953, VSP_010954, VSP_010955, VSP_010956; Note=No experimental confirmation available.; Name=7; Synonyms=B; IsoId=Q8N4C6-7; Sequence=VSP_010960; Note=No experimental confirmation available.; Name=8; IsoId=Q8N4C6-9; Sequence=VSP_040039; Note=No experimental confirmation available.; Name=9; IsoId=Q8N4C6-11; Sequence=VSP_010953; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11004522, ECO:0000269|PubMed:11956314, ECO:0000269|PubMed:12403812, ECO:0000269|PubMed:12927815, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:15190203}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23386061}. Note=Component of the core centrosome. Arranged in a tubular conformation with an open and a closed end within the centrosome. In the mother centrosome, it localizes at both ends of the centrosome tube, including the site of centrosome duplication, while in the daughter centrosome it is present only at the closed end. Requires PCM1 for centrosome localization. Localizes to the subdistal appendage region of the centriole in a DCTN1-dependent manner. {ECO:0000269|PubMed:11956314, ECO:0000269|PubMed:12403812, ECO:0000269|PubMed:23386061}.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm {ECO:0000250|UniProtKB:Q61043}. Note=Seems to have a dominant-negative effect on localization of other isoforms, promoting their dissociation from the centrosome. {ECO:0000250|UniProtKB:Q61043}.


uniprotID: Q6KC79
geneSymbol: NIPBL
reactome: R-HSA-2470946;
name: Nipped-B-like protein (Delangin) (SCC2 homolog)
length: 2804
go: ENSG00000164190;
sequence:

opentargets:
chromatin [GO:0000785]; extracellular exosome [GO:0070062]; integrator complex [GO:0032039]; nuclear chromatin [GO:0000790]; nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Scc2-Scc4 cohesin loading complex [GO:0090694]; SMC loading complex [GO:0032116]; chromatin binding [GO:0003682]; chromo shadow domain binding [GO:0070087]; histone deacetylase binding [GO:0042826]; mediator complex binding [GO:0036033]; protein C-terminus binding [GO:0008022]; protein N-terminus binding [GO:0047485]; brain development [GO:0007420]; cellular protein localization [GO:0034613]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to X-ray [GO:0071481]; cognition [GO:0050890]; cohesin loading [GO:0071921]; developmental growth [GO:0048589]; double-strand break repair [GO:0006302]; ear morphogenesis [GO:0042471]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic forelimb morphogenesis [GO:0035115]; embryonic viscerocranium morphogenesis [GO:0048703]; establishment of mitotic sister chromatid cohesion [GO:0034087]; establishment of protein localization to chromatin [GO:0071169]; external genitalia morphogenesis [GO:0035261]; eye morphogenesis [GO:0048592]; face morphogenesis [GO:0060325]; fat cell differentiation [GO:0045444]; forelimb morphogenesis [GO:0035136]; gall bladder development [GO:0061010]; heart development [GO:0007507]; heart morphogenesis [GO:0003007]; maintenance of mitotic sister chromatid cohesion [GO:0034088]; metanephros development [GO:0001656]; mitotic chromosome condensation [GO:0007076]; mitotic sister chromatid cohesion [GO:0007064]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; outflow tract morphogenesis [GO:0003151]; positive regulation of histone deacetylation [GO:0031065]; positive regulation of mitotic cohesin loading [GO:1905406]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of neuron migration [GO:2001224]; positive regulation of ossification [GO:0045778]; rDNA condensation [GO:0070550]; regulation of developmental growth [GO:0048638]; regulation of embryonic development [GO:0045995]; regulation of hair cycle [GO:0042634]; replication-born double-strand break repair via sister chromatid exchange [GO:1990414]; sensory perception of sound [GO:0007605]; stem cell population maintenance [GO:0019827]; transcriptional activation by promoter-enhancer looping [GO:0071733]; uterus morphogenesis [GO:0061038]

snps:
rs3822471 rs142923613 rs587784042 rs16903425 rs2291703 rs3822471 rs149629686 rs587783929 rs121918268 rs727503769 rs587784000 rs80358376 rs587784024 rs587784025 rs587784036 rs121918265 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A, IDN3-A; IsoId=Q6KC79-1; Sequence=Displayed; Name=2; Synonyms=B, IDN3-B; IsoId=Q6KC79-2; Sequence=VSP_011092, VSP_011093; Name=3; IsoId=Q6KC79-3; Sequence=VSP_011091; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}. Chromosome {ECO:0000250|UniProtKB:Q6KCD5}.


uniprotID: Q9GZQ4
geneSymbol: NMUR2
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
length: 415
go: ENSG00000132911;
snps: rs4958535 rs1895245 rs4958532 rs4958531 rs1363422
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Neuromedin-U receptor 2 (NMU-R2) (G-protein coupled receptor FM-4) (G-protein coupled receptor TGR-1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; GTP binding [GO:0005525]; intracellular calcium activated chloride channel activity [GO:0005229]; neuromedin U binding [GO:0042924]; neuromedin U receptor activity [GO:0001607]; activation of phospholipase A2 activity by calcium-mediated signaling [GO:0043006]; arachidonic acid secretion [GO:0050482]; calcium ion transport [GO:0006816]; calcium-mediated signaling [GO:0019722]; cell-cell signaling [GO:0007267]; central nervous system development [GO:0007417]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; grooming behavior [GO:0007625]; inositol phosphate-mediated signaling [GO:0048016]; neuropeptide signaling pathway [GO:0007218]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; reduction of food intake in response to dietary excess [GO:0002023]; regulation of sensory perception of pain [GO:0051930]; regulation of smooth muscle contraction [GO:0006940]; response to pain [GO:0048265]


uniprotID: Q8TAU0
geneSymbol: NKX2-3
name: Homeobox protein Nkx-2.3 (Homeobox protein NK-2 homolog C)
length: 364
go: ENSG00000119919;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; CD4-positive, alpha-beta T cell differentiation [GO:0043367]; gland morphogenesis [GO:0022612]; leukocyte homeostasis [GO:0001776]; leukocyte migration [GO:0050900]; lymph node development [GO:0048535]; macrophage differentiation [GO:0030225]; odontogenesis of dentin-containing tooth [GO:0042475]; Peyer's patch development [GO:0048541]; plasma cell differentiation [GO:0002317]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic digestive tract morphogenesis [GO:0048621]; regulation of cell proliferation [GO:0042127]; spleen development [GO:0048536]; triglyceride metabolic process [GO:0006641]


uniprotID: Q16517
geneSymbol: NNAT
name: Neuronatin
sequence: MAAVAAASAELLIIGWYIFRVLLQVFLECCIYWVGFAFRNPPGTQPIARSEVFRYSLQKLAYTVSRTGRQVLGERRQRAPN
length: 81
go: ENSG00000053438;
opentargets:
cytoplasm [GO:0005737]; brain development [GO:0007420]; neuron differentiation [GO:0030182]; positive regulation of insulin secretion [GO:0032024]; protein lipoylation [GO:0009249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; IsoId=Q16517-1; Sequence=Displayed; Name=Beta; IsoId=Q16517-2; Sequence=VSP_004331; 


uniprotID: A6NCS4
geneSymbol: NKX2-6
name: Homeobox protein Nkx-2.6 (Homeobox protein NK-2 homolog F)
length: 301
go: ENSG00000180053;
snps: rs267606914
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; atrial cardiac muscle cell development [GO:0055014]; cell differentiation [GO:0030154]; digestive tract development [GO:0048565]; embryonic heart tube development [GO:0035050]; hypothalamus development [GO:0021854]; negative regulation of apoptotic process [GO:0043066]; pericardium development [GO:0060039]; pharyngeal system development [GO:0060037]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; tongue development [GO:0043586]; ventricular cardiac muscle cell development [GO:0055015]


uniprotID: Q86UT6
geneSymbol: NLRX1
reactome: R-HSA-168928;R-HSA-936440;
pdb: 3UN9;
length: 975
go: ENSG00000160703;
snps: rs643423 rs3809045 rs4245191 rs35500631
name:
NLR family member X1 (Caterpiller protein 11.3) (CLR11.3) (Nucleotide-binding oligomerization domain protein 26) (Nucleotide-binding oligomerization domain protein 5) (Nucleotide-binding oligomerization domain protein 9)

sequence:

opentargets:
cell junction [GO:0030054]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response [GO:0050728]; negative regulation of innate immune response [GO:0045824]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of RIG-I signaling pathway [GO:0039536]; negative regulation of type I interferon production [GO:0032480]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UT6-1; Sequence=Displayed; Name=2; IsoId=Q86UT6-2; Sequence=VSP_027158, VSP_027159; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:18200010, ECO:0000269|PubMed:18219313, ECO:0000269|PubMed:27393910}.


uniprotID: Q15233
geneSymbol: NONO
pdb: 3SDE;5IFM;
length: 471
go: ENSG00000147140;
name:
Non-POU domain-containing octamer-binding protein (NonO protein) (54 kDa nuclear RNA- and DNA-binding protein) (55 kDa nuclear protein) (DNA-binding p52/p100 complex, 52 kDa subunit) (NMT55) (p54(nrb)) (p54nrb)

sequence:

opentargets:
membrane [GO:0016020]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; paraspeckles [GO:0042382]; RNA polymerase II transcription factor complex [GO:0090575]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; activation of innate immune response [GO:0002218]; circadian rhythm [GO:0007623]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; innate immune response [GO:0045087]; mRNA processing [GO:0006397]; negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903377]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of circadian rhythm [GO:0042752]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15233-1; Sequence=Displayed; Name=2; IsoId=Q15233-2; Sequence=VSP_045470; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Nucleus speckle. Note=Detected in punctate subnuclear structures often located adjacent to splicing speckles, called paraspeckles.


uniprotID: Q14978
geneSymbol: NOLC1
length: 699
go: ENSG00000166197;
snps: rs11191224 rs1049455
name:
Nucleolar and coiled-body phosphoprotein 1 (140 kDa nucleolar phosphoprotein) (Nopp140) (Hepatitis C virus NS5A-transactivated protein 13) (HCV NS5A-transactivated protein 13) (Nucleolar 130 kDa protein) (Nucleolar phosphoprotein p130)

sequence:

opentargets:
box C/D snoRNP complex [GO:0031428]; box H/ACA snoRNP complex [GO:0031429]; Cajal body [GO:0015030]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; box C/D snoRNA binding [GO:0034512]; box C/D snoRNP complex binding [GO:0062064]; box H/ACA snoRNA binding [GO:0034513]; box H/ACA snoRNP complex binding [GO:0062065]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; GTP binding [GO:0005525]; nuclear localization sequence binding [GO:0008139]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; RNA polymerase I core binding [GO:0001042]; transcription factor binding [GO:0008134]; box H/ACA snoRNA metabolic process [GO:0033979]; mitotic cell cycle [GO:0000278]; neural crest cell development [GO:0014032]; neural crest formation [GO:0014029]; nucleolus organization [GO:0007000]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of protein import into nucleus [GO:0042306]; regulation of translation [GO:0006417]; response to osmotic stress [GO:0006970]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=Q14978-1; Sequence=Displayed; Name=Beta; IsoId=Q14978-2; Sequence=VSP_004338; Name=3; IsoId=Q14978-3; Sequence=VSP_035415; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:7657714}. Cytoplasm {ECO:0000269|PubMed:7657714}. Note=Shuttles between the nucleolus and the cytoplasm. At telophase it begins to assemble into granular-like pre-nucleolar bodies which are subsequently relocated to nucleoli at the early G1-phase. {ECO:0000269|PubMed:7657714}.


uniprotID: Q9HAN9
geneSymbol: NMNAT1
reactome: R-HSA-196807;
pdb: 1GZU;1KKU;1KQN;1KQO;1KR2;
length: 279
go: ENSG00000173614;
drug: DB04099;DB03227;
name:
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (NMN/NaMN adenylyltransferase 1) (EC 2.7.7.1) (EC 2.7.7.18) (Nicotinamide-nucleotide adenylyltransferase 1) (NMN adenylyltransferase 1) (Nicotinate-nucleotide adenylyltransferase 1) (NaMN adenylyltransferase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; nicotinamide-nucleotide adenylyltransferase activity [GO:0000309]; nicotinate-nucleotide adenylyltransferase activity [GO:0004515]; 'de novo' NAD biosynthetic process from aspartate [GO:0034628]; ATP generation from poly-ADP-D-ribose [GO:1990966]; NAD biosynthetic process [GO:0009435]; NAD metabolic process [GO:0019674]; negative regulation of apoptotic DNA fragmentation [GO:1902511]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of MAPK cascade [GO:0043410]; response to wounding [GO:0009611]

snps:
rs387907294 rs138613460 rs761948762 rs760965874 rs763325435 rs756903689 rs372066126 rs771336246 rs387907292 rs387907293 rs757724544 rs748913297 rs142968179 rs375110174 rs368062092 rs778606847 rs150726175 rs387907291 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11248244, ECO:0000269|PubMed:12574164, ECO:0000269|PubMed:16118205, ECO:0000269|PubMed:22842230}.


uniprotID: Q96T66
geneSymbol: NMNAT3
reactome: R-HSA-196807;
pdb: 1NUP;1NUQ;1NUR;1NUS;1NUT;1NUU;
length: 252
go: ENSG00000163864;
drug: DB04099;DB03227;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12574164, ECO:0000269|PubMed:16118205}.
name:
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (NMN/NaMN adenylyltransferase 3) (Nicotinamide-nucleotide adenylyltransferase 3) (NMN adenylyltransferase 3) (Nicotinate-nucleotide adenylyltransferase 3) (NaMN adenylyltransferase 3) (EC 2.7.7.18) (Pyridine nucleotide adenylyltransferase 3) (PNAT-3) (EC 2.7.7.1)

sequence:

opentargets:
axon [GO:0030424]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; ATP binding [GO:0005524]; nicotinamide-nucleotide adenylyltransferase activity [GO:0000309]; nicotinate-nucleotide adenylyltransferase activity [GO:0004515]; 'de novo' NAD biosynthetic process from aspartate [GO:0034628]; NAD biosynthetic process [GO:0009435]; NAD metabolic process [GO:0019674]; response to tumor necrosis factor [GO:0034612]; response to wounding [GO:0009611]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96T66-1; Sequence=Displayed; Name=2; IsoId=Q96T66-2; Sequence=VSP_010267; Note=No experimental confirmation available.; Name=3; IsoId=Q96T66-3; Sequence=VSP_043203; Note=No experimental confirmation available.; 


uniprotID: P61580
geneSymbol: ERVK-10
sequence: MNPSEMQRKGPPRRWCLQVYPTAPKRQRPSRTGHDDDGGFVEKKRGKCGEKQERSNCYCVCVERSRHRRLHFVMC
length: 75
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=When overexpressed. {ECO:0000250}.
name:
Endogenous retrovirus group K member 10 Np9 protein (HERV-K10 Np9 protein) (HERV-K107 Np9 protein) (HERV-K_5q33.3 provirus Np9 protein)


uniprotID: Q9UIW2
geneSymbol: PLXNA1
reactome: R-HSA-399954;R-HSA-399955;R-HSA-399956;R-HSA-416700;
name: Plexin-A1 (Semaphorin receptor NOV)
length: 1896
go: ENSG00000114554;
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; semaphorin receptor activity [GO:0017154]; signaling receptor activity [GO:0038023]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; multicellular organism development [GO:0007275]; negative regulation of cell adhesion [GO:0007162]; neuron projection extension [GO:1990138]; positive regulation of axonogenesis [GO:0050772]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of smooth muscle cell migration [GO:0014910]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q9ULW6
geneSymbol: NAP1L2
name: Nucleosome assembly protein 1-like 2 (Brain-specific protein, X-linked)
length: 460
go: ENSG00000186462;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; nucleosome assembly [GO:0006334]; positive regulation of histone H3-K14 acetylation [GO:0071442]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of neuron differentiation [GO:0045666]; regulation of stem cell division [GO:2000035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULW6-1; Sequence=Displayed; Name=2; IsoId=Q9ULW6-2; Sequence=VSP_057064; Note=No experimental confirmation available.; 


uniprotID: Q9H841
geneSymbol: NIPAL2
reactome: R-HSA-5223345;
name: NIPA-like protein 2
length: 368
go: ENSG00000104361;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H841-1; Sequence=Displayed; Name=2; IsoId=Q9H841-2; Sequence=VSP_056271; Note=No experimental confirmation available.; 


uniprotID: Q9HCM2
geneSymbol: PLXNA4
reactome: R-HSA-399954;R-HSA-399955;R-HSA-399956;R-HSA-416700;
pdb: 4E74;
name: Plexin-A4
length: 1894
go: ENSG00000221866;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; semaphorin receptor activity [GO:0017154]; anterior commissure morphogenesis [GO:0021960]; chemorepulsion of branchiomotor axon [GO:0021793]; facial nerve structural organization [GO:0021612]; glossopharyngeal nerve morphogenesis [GO:0021615]; negative regulation of cell adhesion [GO:0007162]; positive regulation of axonogenesis [GO:0050772]; postganglionic parasympathetic fiber development [GO:0021784]; regulation of axon extension involved in axon guidance [GO:0048841]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of negative chemotaxis [GO:0050923]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; sympathetic nervous system development [GO:0048485]; trigeminal nerve structural organization [GO:0021637]; vagus nerve morphogenesis [GO:0021644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HCM2-1; Sequence=Displayed; Name=2; IsoId=Q9HCM2-2; Sequence=VSP_019331, VSP_019332; Name=3; IsoId=Q9HCM2-3; Sequence=VSP_019330, VSP_019333; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q9HCM2-4; Sequence=VSP_019334; 


uniprotID: P61581
geneSymbol: ERVK-24
sequence: MNPSEMQRKGPPRRWCLQVYPTAPKRQRPSRTGHDDDGGFVEKKRGKCGEKQERSDCYCVCVERSRHRRLHFVMC
length: 75
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus. Note=When overexpressed.
name:
Endogenous retrovirus group K member 24 Np9 protein (HERV-K101 Np9 protein) (HERV-K_22q11.21 provirus Np9 protein)


uniprotID: Q8IUM7
geneSymbol: NPAS4
length: 802
go: ENSG00000174576;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8BGD7, ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Neuronal PAS domain-containing protein 4 (Neuronal PAS4) (Class E basic helix-loop-helix protein 79) (bHLHe79) (HLH-PAS transcription factor NXF) (PAS domain-containing protein 10)

sequence:

opentargets:
nucleus [GO:0005634]; postsynapse [GO:0098794]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; cellular response to corticosterone stimulus [GO:0071386]; excitatory postsynaptic potential [GO:0060079]; inhibitory postsynaptic potential [GO:0060080]; inhibitory synapse assembly [GO:1904862]; learning [GO:0007612]; long-term memory [GO:0007616]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic transmission, GABAergic [GO:0032228]; regulation of transcription by RNA polymerase II [GO:0006357]; short-term memory [GO:0007614]; social behavior [GO:0035176]

snps:
rs79072452 rs905768 rs375915619 rs200310338 rs76159120 rs140299985 rs145746289 rs150700317 rs71457718 rs142965018 rs147463475 rs139929410 rs111848728 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IUM7-1; Sequence=Displayed; Name=2; IsoId=Q8IUM7-3; Sequence=VSP_056596, VSP_056597; Note=No experimental confirmation available.; 


uniprotID: Q04721
geneSymbol: NOTCH2
pdb: 2OO4;5MWB;
length: 2471
go: ENSG00000134250;
snps: rs111033632 rs17024517
reactome:
R-HSA-1912399;R-HSA-1912408;R-HSA-1912420;R-HSA-2197563;R-HSA-2979096;R-HSA-350054;R-HSA-5083630;R-HSA-9013695;

name:
Neurogenic locus notch homolog protein 2 (Notch 2) (hN2) [Cleaved into: Notch 2 extracellular truncation (N2ECD); Notch 2 intracellular domain (N2ICD)]

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; calcium ion binding [GO:0005509]; signaling receptor activity [GO:0038023]; animal organ morphogenesis [GO:0009887]; apoptotic process [GO:0006915]; atrial septum morphogenesis [GO:0060413]; bone remodeling [GO:0046849]; cell cycle arrest [GO:0007050]; cell fate determination [GO:0001709]; hemopoiesis [GO:0030097]; marginal zone B cell differentiation [GO:0002315]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; negative regulation of growth rate [GO:0045967]; nervous system development [GO:0007399]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of Ras protein signal transduction [GO:0046579]; pulmonary valve morphogenesis [GO:0003184]; regulation of osteoclast development [GO:2001204]; regulation of transcription, DNA-templated [GO:0006355]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Notch 2 extracellular truncation: Cell membrane {ECO:0000269|PubMed:29329397, ECO:0000269|PubMed:9244302}; Single-pass type I membrane protein {ECO:0000269|PubMed:9244302}.; SUBCELLULAR LOCATION: Notch 2 intracellular domain: Nucleus {ECO:0000269|PubMed:25985737}. Cytoplasm {ECO:0000269|PubMed:25985737}. Note=Following proteolytical processing NICD is translocated to the nucleus. Retained at the cytoplasm by TCIM (PubMed:25985737). {ECO:0000269|PubMed:25985737}.


uniprotID: Q9BV86
geneSymbol: NTMT1
pdb: 2EX4;5CVD;5CVE;5E1B;5E1D;5E1M;5E1O;5E2A;5E2B;
length: 223
go: ENSG00000148335;
name:
N-terminal Xaa-Pro-Lys N-methyltransferase 1 (EC 2.1.1.244) (Alpha N-terminal protein methyltransferase 1A) (Methyltransferase-like protein 11A) (N-terminal RCC1 methyltransferase) (X-Pro-Lys N-terminal protein methyltransferase 1A) (NTM1A) [Cleaved into: N-terminal Xaa-Pro-Lys N-methyltransferase 1, N-terminally processed]

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone methyltransferase activity [GO:0042054]; N-terminal protein N-methyltransferase activity [GO:0071885]; protein methyltransferase activity [GO:0008276]; chromosome segregation [GO:0007059]; histone methylation [GO:0016571]; N-terminal peptidyl-alanine trimethylation [GO:0018012]; N-terminal peptidyl-glycine methylation [GO:0018013]; N-terminal peptidyl-proline dimethylation [GO:0018016]; N-terminal peptidyl-serine dimethylation [GO:0035572]; N-terminal peptidyl-serine trimethylation [GO:0035573]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV86-1; Sequence=Displayed; Name=2; IsoId=Q9BV86-2; Sequence=VSP_039886; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20668449, ECO:0000269|PubMed:24090352}. Note=Predominantly nuclear (PubMed:24090352).


uniprotID: Q6ZSK4
geneSymbol: NTM-AS1
name: Putative uncharacterized protein NTM-AS1 (NTM antisense RNA 1) (NTM antisense gene protein 1)
length: 140
sequence:
MKGQEGIRGEGCTDPEIKASPQMWAARFRGMRSRFSPLFSQATEMGPRVSAGWCLSGGGRKVSSLQGDFPPGGFWALSNDSALSLPPLSLPHPHPLRPPGLGVNEFTQGLHPPLHPAASVFQTCFYRKPHYCSTLRPTTT


uniprotID: A6NNL0
geneSymbol: NUTM2B
name: NUT family member 2B
length: 878
go: ENSG00000188199;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NNL0-1; Sequence=Displayed; Name=2; IsoId=A6NNL0-2; Sequence=VSP_034025, VSP_034026, VSP_034027; 


uniprotID: P03897
geneSymbol: MT-ND3
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 3 (EC 7.1.1.2) (NADH dehydrogenase subunit 3)
length: 115
go: ENSG00000198840;
drug: DB00157;
snps: rs28358274 rs199476117 rs267606890 rs267606891 rs2853826
sequence:
MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase complex [GO:0030964]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; cellular response to glucocorticoid stimulus [GO:0071385]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to light intensity [GO:0009642]; response to oxidative stress [GO:0006979]


uniprotID: P13686
geneSymbol: ACP5
reactome: R-HSA-196843;
pdb: 1WAR;2BQ8;
length: 325
go: ENSG00000102575;
drug: DB02325;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Tartrate-resistant acid phosphatase type 5 (TR-AP) (EC 3.1.3.2) (Tartrate-resistant acid ATPase) (TrATPase) (Type 5 acid phosphatase)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; acid phosphatase activity [GO:0003993]; ferric iron binding [GO:0008199]; ferrous iron binding [GO:0008198]; bone morphogenesis [GO:0060349]; bone resorption [GO:0045453]; defense response to Gram-positive bacterium [GO:0050830]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of superoxide anion generation [GO:0032929]; negative regulation of tumor necrosis factor production [GO:0032720]; ossification [GO:0001503]; response to cytokine [GO:0034097]; response to lipopolysaccharide [GO:0032496]; riboflavin metabolic process [GO:0006771]

snps:
rs387906668 rs781050795 rs2305799 rs2229531 rs387906672 rs781199182 rs2229532 rs1449857485 rs387906670 


uniprotID: P80303
geneSymbol: NUCB2
length: 420
go: ENSG00000070081;
snps: rs757081
name:
Nucleobindin-2 (DNA-binding protein NEFA) (Epididymis secretory protein Li 109) (Gastric cancer antigen Zg4) (Prepronesfatin) [Cleaved into: Nesfatin-1]

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; nuclear outer membrane [GO:0005640]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; DNA binding [GO:0003677]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P80303-1; Sequence=Displayed; Name=2; IsoId=P80303-2; Sequence=VSP_036450; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:11749975}. Membrane {ECO:0000269|PubMed:11749975}; Peripheral membrane protein {ECO:0000269|PubMed:11749975}. Cytoplasm {ECO:0000269|PubMed:11749975}. Secreted {ECO:0000269|PubMed:11749975}. Endoplasmic reticulum {ECO:0000250}. Nucleus envelope {ECO:0000250}. Note=Golgi retention is mediated by its N-terminal region.; SUBCELLULAR LOCATION: Nesfatin-1: Secreted.


uniprotID: Q9Y5A7
geneSymbol: NUB1
reactome: R-HSA-8951664;
pdb: 1WJU;
length: 615
go: ENSG00000013374;
snps: rs2302131
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11259415}. Note=Predominantly nuclear.
name:
NEDD8 ultimate buster 1 (Negative regulator of ubiquitin-like proteins 1) (Renal carcinoma antigen NY-REN-18)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; response to interferon-gamma [GO:0034341]; response to tumor necrosis factor [GO:0034612]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=NUB1L; IsoId=Q9Y5A7-1; Sequence=Displayed; Name=2; IsoId=Q9Y5A7-2; Sequence=VSP_008335; 


uniprotID: Q8IW45
geneSymbol: NAXD
reactome: R-HSA-197264;
length: 347
go: ENSG00000213995;
snps: rs3742191 rs3742192 rs1044112
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03157}.
name:
ATP-dependent (S)-NAD(P)H-hydrate dehydratase (EC 4.2.1.93) (ATP-dependent NAD(P)HX dehydratase) (Carbohydrate kinase domain-containing protein) (NAD(P)HX dehydratase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; ADP-dependent NAD(P)H-hydrate dehydratase activity [GO:0052855]; ATP binding [GO:0005524]; ATP-dependent NAD(P)H-hydrate dehydratase activity [GO:0047453]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IW45-1; Sequence=Displayed; Name=2; IsoId=Q8IW45-2; Sequence=VSP_033830; Name=3; IsoId=Q8IW45-3; Sequence=VSP_033829; Name=4; IsoId=Q8IW45-4; Sequence=VSP_042012; Note=No experimental confirmation available.; 


uniprotID: Q7RTR0
geneSymbol: NLRP9
length: 991
go: ENSG00000185792;
name:
NACHT, LRR and PYD domains-containing protein 9 (Nucleotide-binding oligomerization domain protein 6) (PYRIN and NACHT-containing protein 12)

sequence:

opentargets:
inflammasome complex [GO:0061702]; ATP binding [GO:0005524]; defense response to virus [GO:0051607]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of interleukin-18 production [GO:0032741]; pyroptosis [GO:0070269]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7RTR0-1; Sequence=Displayed; Name=2; IsoId=Q7RTR0-2; Sequence=VSP_025021; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q66X22}. Inflammasome {ECO:0000269|PubMed:28636595}.


uniprotID: Q96S42
geneSymbol: NODAL
reactome: R-HSA-1181150;R-HSA-1433617;
pdb: 4N1D;
name: Nodal homolog
length: 347
go: ENSG00000156574;
snps: rs1904589 rs104894169 rs10999334 rs121909283 rs781366461 rs755116310
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; morphogen activity [GO:0016015]; transforming growth factor beta receptor binding [GO:0005160]; type I activin receptor binding [GO:0070698]; axial mesodermal cell fate specification [GO:0048327]; BMP signaling pathway [GO:0030509]; brain development [GO:0007420]; cell development [GO:0048468]; cell migration involved in gastrulation [GO:0042074]; digestive tract morphogenesis [GO:0048546]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic pattern specification [GO:0009880]; embryonic placenta development [GO:0001892]; embryonic process involved in female pregnancy [GO:0060136]; endodermal cell differentiation [GO:0035987]; epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification [GO:0060802]; floor plate morphogenesis [GO:0033505]; formation of anatomical boundary [GO:0048859]; heart looping [GO:0001947]; inhibition of neuroepithelial cell differentiation [GO:0002085]; left lung morphogenesis [GO:0060460]; liver development [GO:0001889]; maternal placenta development [GO:0001893]; maternal process involved in parturition [GO:0060137]; mesendoderm development [GO:0048382]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of cell development [GO:0010721]; negative regulation of chorionic trophoblast cell proliferation [GO:1901383]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of trophoblast cell migration [GO:1901164]; neural fold formation [GO:0001842]; nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900164]; placenta development [GO:0001890]; polarity specification of proximal/distal axis [GO:0010085]; positive regulation of activin receptor signaling pathway [GO:0032927]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900224]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of apoptotic process [GO:0042981]; regulation of gastrulation [GO:0010470]; regulation of MAPK cascade [GO:0043408]; regulation of stem cell population maintenance [GO:2000036]; SMAD protein signal transduction [GO:0060395]; stem cell population maintenance [GO:0019827]; transforming growth factor beta receptor signaling pathway involved in primitive streak formation [GO:0090010]; trophectodermal cellular morphogenesis [GO:0001831]; vasculature development [GO:0001944]


uniprotID: Q9BZE4
geneSymbol: GTPBP4
name: Nucleolar GTP-binding protein 1 (Chronic renal failure gene protein) (GTP-binding protein NGB)
length: 634
go: ENSG00000107937;
snps: rs3207775
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000463]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of collagen binding [GO:0033342]; negative regulation of DNA replication [GO:0008156]; negative regulation of protein ubiquitination [GO:0031397]; osteoblast differentiation [GO:0001649]; protein stabilization [GO:0050821]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZE4-1; Sequence=Displayed; Name=2; IsoId=Q9BZE4-2; Sequence=VSP_056147; Note=No experimental confirmation available.; Name=3; IsoId=Q9BZE4-3; Sequence=VSP_056146; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11316846, ECO:0000269|PubMed:12429849, ECO:0000269|Ref.8}.


uniprotID: Q9UGY1
geneSymbol: NOL12
reactome: R-HSA-6791226;
name: Nucleolar protein 12
length: 213
go: ENSG00000273899;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
nucleolus [GO:0005730]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; single-stranded DNA binding [GO:0003697]; negative regulation of apoptotic process [GO:0043066]; nucleolus organization [GO:0007000]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; rRNA processing [GO:0006364]


uniprotID: P49790
geneSymbol: NUP153
pdb: 2EBQ;2EBR;2EBV;2GQE;4U0C;4U0D;5TSV;5TSX;6AYA;
name: Nuclear pore complex protein Nup153 (153 kDa nucleoporin) (Nucleoporin Nup153)
length: 1475
go: ENSG00000124789;
snps: rs16879902 rs2228375 rs17857419 rs6906499 rs6905654 rs2274136 rs2228379
sequence:

opentargets:
cytosol [GO:0005829]; host cell [GO:0043657]; nuclear inclusion body [GO:0042405]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; nuclear pore central transport channel [GO:0044613]; nuclear pore nuclear basket [GO:0044615]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; nuclear localization sequence binding [GO:0008139]; protein membrane anchor [GO:0043495]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; negative regulation of RNA export from nucleus [GO:0046832]; nuclear pore complex assembly [GO:0051292]; protein import into nucleus [GO:0006606]; viral entry into host cell [GO:0046718]; viral penetration into host nucleus [GO:0075732]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49790-1; Sequence=Displayed; Name=2; IsoId=P49790-2; Sequence=VSP_054265; Note=No experimental confirmation available.; Name=3; IsoId=P49790-3; Sequence=VSP_055134; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus membrane. Nucleus, nuclear pore complex. Note=Tightly associated with the nuclear membrane and lamina (By similarity). Localized to the nucleoplasmic side of the nuclear pore complex (NPC) core structure, forming a fibrous structure called the nuclear basket. Dissociates from the NPC structure early during prophase of mitosis. Integrated in the newly assembled nuclear envelope of postmitotic cells early in G1. Colocalized with NUP98 and TPR to the nuclear basket at the nucleoplasmic side of the NPC. Detected in diffuse and discrete intranuclear foci. Remained localized to the nuclear membrane after poliovirus (PV) infection. {ECO:0000250}.


uniprotID: Q9GZY6
geneSymbol: LAT2
reactome: R-HSA-2730905;
pdb: 3MAZ;
length: 243
go: ENSG00000086730;
name:
Linker for activation of T-cells family member 2 (Linker for activation of B-cells) (Membrane-associated adapter molecule) (Non-T-cell activation linker) (Williams-Beuren syndrome chromosomal region 15 protein) (Williams-Beuren syndrome chromosomal region 5 protein)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; mast cell granule [GO:0042629]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; SH2 domain binding [GO:0042169]; adaptive immune response [GO:0002250]; B cell activation [GO:0042113]; B cell receptor signaling pathway [GO:0050853]; calcium-mediated signaling [GO:0019722]; Fc-epsilon receptor signaling pathway [GO:0038095]; intracellular signal transduction [GO:0035556]; mast cell degranulation [GO:0043303]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZY6-1; Sequence=Displayed; Name=2; IsoId=Q9GZY6-2; Sequence=VSP_016643; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734}; Single-pass type III membrane protein {ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734}. Note=Present in lipid rafts.


uniprotID: Q16288
geneSymbol: NTRK3
reactome: R-HSA-388844;R-HSA-9034013;R-HSA-9034015;R-HSA-9034793;R-HSA-9034864;R-HSA-9603381;R-HSA-9603505;
pdb: 1WWC;3V5Q;4YMJ;
length: 839
go: ENSG00000140538;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
NT-3 growth factor receptor (EC 2.7.10.1) (GP145-TrkC) (Trk-C) (Neurotrophic tyrosine kinase receptor type 3) (TrkC tyrosine kinase)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; GPI-linked ephrin receptor activity [GO:0005004]; neurotrophin binding [GO:0043121]; neurotrophin receptor activity [GO:0005030]; p53 binding [GO:0002039]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; activation of GTPase activity [GO:0090630]; activation of MAPK activity [GO:0000187]; activation of protein kinase B activity [GO:0032148]; cell differentiation [GO:0030154]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to retinoic acid [GO:0071300]; circadian rhythm [GO:0007623]; cochlea development [GO:0090102]; heart development [GO:0007507]; lens fiber cell differentiation [GO:0070306]; mechanoreceptor differentiation [GO:0042490]; modulation by virus of host transcription [GO:0019056]; myelination in peripheral nervous system [GO:0022011]; negative regulation of apoptotic process [GO:0043066]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of signal transduction [GO:0009968]; neuron fate specification [GO:0048665]; neuron migration [GO:0001764]; neuronal action potential propagation [GO:0019227]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of apoptotic process [GO:0043065]; positive regulation of axon extension involved in regeneration [GO:0048691]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of synapse assembly [GO:0051965]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; response to axon injury [GO:0048678]; response to corticosterone [GO:0051412]; response to ethanol [GO:0045471]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

snps:
rs200822610 rs200923715 rs147992979 rs368222977 rs547862658 rs56386352 rs869112057 rs55890138 rs55770052 rs56393451 rs869209165 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A; IsoId=Q16288-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q16288-2; Sequence=VSP_002925, VSP_002926; Name=3; Synonyms=C; IsoId=Q16288-3; Sequence=VSP_002927; Name=4; Synonyms=D; IsoId=Q16288-4; Sequence=VSP_002924; Name=5; Synonyms=E; IsoId=Q16288-5; Sequence=VSP_002924, VSP_002927; Note=No experimental confirmation.; 


uniprotID: Q96HA8
geneSymbol: WDYHV1
pdb: 3C9Q;4W79;
length: 205
go: ENSG00000156795;
snps: rs6999234 rs7014678 rs6470147 rs3824250
name:
Protein N-terminal glutamine amidohydrolase (EC 3.5.1.122) (Protein NH2-terminal glutamine deamidase) (N-terminal Gln amidase) (Nt(Q)-amidase) (WDYHV motif-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; protein-N-terminal glutamine amidohydrolase activity [GO:0070773]; cellular protein modification process [GO:0006464]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HA8-1; Sequence=Displayed; Name=2; IsoId=Q96HA8-2; Sequence=VSP_055268; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q80WB5}. Nucleus {ECO:0000250|UniProtKB:Q80WB5}.


uniprotID: Q5VVY1
geneSymbol: METTL11B
pdb: 5UBB;6DUB;
length: 283
go: ENSG00000203740;
snps: rs12073565 rs6427235 rs12735494
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24090352}.
name:
Alpha N-terminal protein methyltransferase 1B (EC 2.1.1.299) (Methyltransferase-like protein 11B) (X-Pro-Lys N-terminal protein methyltransferase 1B) (NTM1B)

sequence:

opentargets:
nucleus [GO:0005634]; N-terminal protein N-methyltransferase activity [GO:0071885]; N-terminal protein amino acid methylation [GO:0006480]


uniprotID: Q7Z3S9
geneSymbol: NOTCH2NLA
name: Notch homolog 2 N-terminal-like protein A (Notch homolog 2 N-terminal-like protein)
length: 236
go: ENSG00000264343;ENSG00000271383;
snps: rs10910779 rs8002 rs4649852 rs1053710
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; Notch binding [GO:0005112]; cell differentiation [GO:0030154]; cerebral cortex development [GO:0021987]; Notch signaling pathway [GO:0007219]; positive regulation of Notch signaling pathway [GO:0045747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z3S9-1; Sequence=Displayed; Name=2; IsoId=Q7Z3S9-2; Sequence=VSP_033896; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z3S9-3; Sequence=VSP_033895; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14673143, ECO:0000269|PubMed:29856954}. Cytoplasm {ECO:0000269|PubMed:14673143}.


uniprotID: P0DPK3
geneSymbol: NOTCH2NLB
name: Notch homolog 2 N-terminal-like protein B
length: 275
go: ENSG00000270629;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:29856954, ECO:0000269|PubMed:29856955}.
sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; Notch binding [GO:0005112]; cerebral cortex development [GO:0021987]; Notch signaling pathway [GO:0007219]; positive regulation of Notch signaling pathway [GO:0045747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DPK3-1, A0A0B4J2B3-1; Sequence=Displayed; Name=2; IsoId=P0DPK3-2, A0A0B4J2B3-2; Sequence=VSP_059805; 


uniprotID: P0DPK4
geneSymbol: NOTCH2NLC
name: Notch homolog 2 N-terminal-like protein C
length: 236
go: ENSG00000264343;ENSG00000271383;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:29856954}.
sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; cerebral cortex development [GO:0021987]; Notch signaling pathway [GO:0007219]; positive regulation of Notch signaling pathway [GO:0045747]


uniprotID: Q8IVF1
geneSymbol: NUTM2A
name: NUT family member 2A
length: 878
go: ENSG00000184923;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVF1-1; Sequence=Displayed; Name=2; IsoId=Q8IVF1-2; Sequence=VSP_034018, VSP_034020; 


uniprotID: Q9Y4Z2
geneSymbol: NEUROG3
reactome: R-HSA-210744;R-HSA-210746;
name: Neurogenin-3 (NGN-3) (Class A basic helix-loop-helix protein 7) (bHLHa7) (Protein atonal homolog 5)
length: 214
go: ENSG00000122859;
snps: rs121917838 rs121917837 rs4536103
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; central nervous system development [GO:0007417]; endocrine pancreas development [GO:0031018]; epithelial cell differentiation [GO:0030855]; forebrain development [GO:0030900]; hindbrain development [GO:0030902]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]; peripheral nervous system development [GO:0007422]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of dendrite morphogenesis [GO:0048814]; spinal cord development [GO:0021510]; transdifferentiation [GO:0060290]


uniprotID: Q96EH8
geneSymbol: NEURL3
length: 262
go: ENSG00000163121;
opentargets: metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]
name:
E3 ubiquitin-protein ligase NEURL3 (EC 2.3.2.27) (Lung-inducible neuralized-related C3CH4 RING domain protein) (Neuralized-like protein 3) (RING-type E3 ubiquitin transferase NEURL3)

sequence:


uniprotID: Q86XR2
geneSymbol: FAM129C
name: Niban-like protein 2 (B-cell novel protein 1) (Protein FAM129C)
length: 697
go: ENSG00000167483;
snps: rs8107859 rs45532635 rs10401716 rs11666267
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=3; IsoId=Q86XR2-1; Sequence=Displayed; Name=2; Synonyms=1; IsoId=Q86XR2-2; Sequence=VSP_032129; Name=3; Synonyms=2; IsoId=Q86XR2-3; Sequence=VSP_032130, VSP_032131; Name=4; IsoId=Q86XR2-4; Sequence=VSP_032126, VSP_032130, VSP_032131; Note=No experimental confirmation available.; Name=5; IsoId=Q86XR2-5; Sequence=VSP_032127, VSP_032128; Note=No experimental confirmation available.; Name=6; IsoId=Q86XR2-6; Sequence=VSP_054124; Note=No experimental confirmation available.; Name=7; IsoId=Q86XR2-7; Sequence=VSP_054125, VSP_054126, VSP_032130, VSP_032131; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O75323
geneSymbol: NIPSNAP2
name: Protein NipSnap homolog 2 (NipSnap2) (Glioblastoma-amplified sequence)
length: 286
go: ENSG00000146729;
sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ATP biosynthetic process [GO:0006754]; negative regulation of ATP citrate synthase activity [GO:2000984]; oxidative phosphorylation [GO:0006119]; positive regulation of high voltage-gated calcium channel activity [GO:1901843]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75323-1; Sequence=Displayed; Name=2; IsoId=O75323-2; Sequence=VSP_044708; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O55126}. Mitochondrion outer membrane {ECO:0000269|PubMed:26387735}.


uniprotID: O60393
geneSymbol: NOBOX
name: Homeobox protein NOBOX
length: 691
go: ENSG00000106410;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:27798098}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; multicellular organism development [GO:0007275]; oogenesis [GO:0048477]; regulation of transcription by RNA polymerase II [GO:0006357]

snps:
rs115206969 rs77587352 rs571490209 rs7800847 rs201806397 rs193303103 rs193303104 rs201947677 rs199538689 rs189306575 rs112190116 rs2525702 rs2699503 rs146227301 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60393-1; Sequence=Displayed; Name=2; IsoId=O60393-2; Sequence=VSP_028796; Note=No experimental confirmation available.; 


uniprotID: Q8WTT2
geneSymbol: NOC3L
length: 800
go: ENSG00000173145;
snps: rs12572897 rs11187895 rs3758526 rs11187892 rs12259382 rs17517578
location: SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus speckle.
name:
Nucleolar complex protein 3 homolog (NOC3 protein homolog) (Factor for adipocyte differentiation 24) (NOC3-like protein) (Nucleolar complex-associated protein 3-like protein)

sequence:

opentargets:
mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA binding [GO:0003723]; fat cell differentiation [GO:0045444]


uniprotID: Q96PB7
geneSymbol: OLFM3
name: Noelin-3 (Olfactomedin-3) (Optimedin)
length: 478
go: ENSG00000118733;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Cell junction, synapse {ECO:0000250}.
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; synapse [GO:0045202]; eye photoreceptor cell development [GO:0042462]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96PB7-1; Sequence=Displayed; Name=2; IsoId=Q96PB7-2; Sequence=VSP_003771, VSP_003772; Name=3; IsoId=Q96PB7-3; Sequence=VSP_003769; Name=4; IsoId=Q96PB7-4; Sequence=VSP_003769, VSP_003771, VSP_003772; Name=5; IsoId=Q96PB7-5; Sequence=VSP_003770; Name=6; IsoId=Q96PB7-6; Sequence=VSP_003770, VSP_003771, VSP_003772; 


uniprotID: Q5SY16
geneSymbol: NOL9
reactome: R-HSA-6791226;
name: Polynucleotide 5'-hydroxyl-kinase NOL9 (EC 2.7.1.-) (Nucleolar protein 9)
length: 702
go: ENSG00000162408;
snps: rs4908923 rs6693400 rs6693391 rs17029613
sequence:

opentargets:
intermediate filament cytoskeleton [GO:0045111]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; polynucleotide 5'-hydroxyl-kinase activity [GO:0051731]; RNA binding [GO:0003723]; cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000448]; maturation of 5.8S rRNA [GO:0000460]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:21063389}. Note=Colocalizes with pre-60S rRNP particles.


uniprotID: Q9NPE3
geneSymbol: NOP10
reactome: R-HSA-6790901;
sequence: MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQPRPVL
length: 64
go: ENSG00000182117;
snps: rs121908092
name:
H/ACA ribonucleoprotein complex subunit 3 (Nucleolar protein 10) (Nucleolar protein family A member 3) (snoRNP protein NOP10)

opentargets:
box H/ACA scaRNP complex [GO:0072589]; box H/ACA snoRNP complex [GO:0031429]; box H/ACA telomerase RNP complex [GO:0090661]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; small nucleolar ribonucleoprotein complex [GO:0005732]; telomerase holoenzyme complex [GO:0005697]; box H/ACA snoRNA binding [GO:0034513]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; pseudouridine synthesis [GO:0001522]; rRNA pseudouridine synthesis [GO:0031118]; snoRNA guided rRNA pseudouridine synthesis [GO:0000454]; snRNA pseudouridine synthesis [GO:0031120]; telomere maintenance via telomerase [GO:0007004]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11074001}. Nucleus, Cajal body {ECO:0000269|PubMed:11074001}. Note=Also localized to Cajal bodies (coiled bodies).


uniprotID: P29475
geneSymbol: NOS1
reactome: R-HSA-1222556;R-HSA-392154;R-HSA-5578775;
length: 1434
go: ENSG00000089250;
snps: rs9658279 rs9658356 rs9658403 rs9658445 rs9658482
pdb:
4D1N;4UCH;4UH5;4UH6;4V3U;5ADF;5ADG;5ADI;5FVU;5FVV;5FVW;5FVX;5UO1;5UO2;5UO3;5UO4;5UO5;5UO6;5UO7;5VUV;5VUW;5VUX;5VUY;5VUZ;5VV0;5VV1;5VV2;5VV3;5VV4;5VV5;6AUY;6AUZ;6AV0;6AV1;6AV2;6AV3;6AV4;6AV5;

name:
Nitric oxide synthase, brain (EC 1.14.13.39) (Constitutive NOS) (NC-NOS) (NOS type I) (Neuronal NOS) (N-NOS) (nNOS) (Peptidyl-cysteine S-nitrosylase NOS1) (bNOS)

sequence:

opentargets:
calyx of Held [GO:0044305]; caveola [GO:0005901]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; synapse [GO:0045202]; T-tubule [GO:0030315]; vesicle membrane [GO:0012506]; Z disc [GO:0030018]; arginine binding [GO:0034618]; cadmium ion binding [GO:0046870]; calmodulin binding [GO:0005516]; flavin adenine dinucleotide binding [GO:0050660]; FMN binding [GO:0010181]; heme binding [GO:0020037]; ion channel binding [GO:0044325]; NADP binding [GO:0050661]; NADPH-hemoprotein reductase activity [GO:0003958]; nitric-oxide synthase activity [GO:0004517]; oxidoreductase activity [GO:0016491]; scaffold protein binding [GO:0097110]; sodium channel regulator activity [GO:0017080]; tetrahydrobiopterin binding [GO:0034617]; arginine catabolic process [GO:0006527]; cell redox homeostasis [GO:0045454]; cellular response to growth factor stimulus [GO:0071363]; exogenous drug catabolic process [GO:0042738]; multicellular organismal response to stress [GO:0033555]; myoblast fusion [GO:0007520]; negative regulation of blood pressure [GO:0045776]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of calcium ion transport into cytosol [GO:0010523]; negative regulation of hydrolase activity [GO:0051346]; negative regulation of potassium ion transport [GO:0043267]; negative regulation of serotonin uptake [GO:0051612]; neurotransmitter biosynthetic process [GO:0042136]; nitric oxide biosynthetic process [GO:0006809]; nitric oxide mediated signal transduction [GO:0007263]; peptidyl-cysteine S-nitrosylation [GO:0018119]; positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process [GO:0140196]; positive regulation of guanylate cyclase activity [GO:0031284]; positive regulation of histone acetylation [GO:0035066]; positive regulation of sodium ion transmembrane transport [GO:1902307]; positive regulation of the force of heart contraction [GO:0098735]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction [GO:0055117]; regulation of neurogenesis [GO:0050767]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of sodium ion transport [GO:0002028]; response to heat [GO:0009408]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]; response to lipopolysaccharide [GO:0032496]; retrograde trans-synaptic signaling by nitric oxide [GO:0098924]; striated muscle contraction [GO:0006941]; vasodilation [GO:0042311]

drug:
DB03461;DB01997;DB03892;DB00997;DB03147;DB01942;DB00155;DB02077;DB09241;DB02044;DB03449;DB02727;DB02143;DB03144;DB02644;DB02027;DB03710;DB04223;DB06096;DB03247;DB02991;DB03707;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Isoform 3 is produced by different alternative splicing events implicating either the untranslated exons TEX1 (TN-NOS) or TEX1B (TN-NOSB) leading to a N-terminally truncated protein which possesses enzymatic activity comparable to that of isoform 1. The C-terminally truncated isoform 4 is produced by insertion of the TEX2 exon between exons 3 and 4 of isoform 1, leading to a frameshift and a premature stop codon. {ECO:0000269|PubMed:9791007}; Name=1; Synonyms=N-NOS-1; IsoId=P29475-1; Sequence=Displayed; Name=2; Synonyms=N-NOS-2; IsoId=P29475-2; Sequence=VSP_003574; Name=3; Synonyms=TN-NOS, TN-NOSB; IsoId=P29475-3; Sequence=VSP_003571; Name=4; Synonyms=TEX2-insertion; IsoId=P29475-4; Sequence=VSP_003572, VSP_003573; Name=5; Synonyms=nNOSmu; IsoId=P29475-5; Sequence=VSP_044916; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein. Cell projection, dendritic spine {ECO:0000250}. Note=In skeletal muscle, it is localized beneath the sarcolemma of fast-twitch muscle fiber by associating with the dystrophin glycoprotein complex. In neurons, enriched in dendritic spines (By similarity). {ECO:0000250}.


uniprotID: Q12796
geneSymbol: PNRC1
name: Proline-rich nuclear receptor coactivator 1 (Proline-rich protein 2) (Protein B4-2)
length: 327
go: ENSG00000146278;
opentargets: nucleus [GO:0005634]
snps: rs2231277
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12796-1; Sequence=Displayed; Name=2; IsoId=Q12796-2; Sequence=VSP_055501; 


uniprotID: Q9QC07
geneSymbol: ERVK-18
length: 812
name:
Endogenous retrovirus group K member 18 Pol protein (HERV-K(C1a) Pol protein) (HERV-K110 Pol protein) (HERV-K18 Pol protein) (HERV-K_1q23.3 provirus ancestral Pol protein) [Includes: Reverse transcriptase (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4)]

sequence:

opentargets:
DNA binding [GO:0003677]; RNA-directed DNA polymerase activity [GO:0003964]; RNA-DNA hybrid ribonuclease activity [GO:0004523]; zinc ion binding [GO:0008270]; DNA integration [GO:0015074]


uniprotID: O60927
geneSymbol: PPP1R11
length: 126
go: ENSG00000204619;
name:
E3 ubiquitin-protein ligase PPP1R11 (EC 2.3.2.27) (Hemochromatosis candidate gene V protein) (HCG V) (Protein phosphatase 1 regulatory subunit 11) (Protein phosphatase inhibitor 3)

sequence:
MAEAGAGLSETVTETTVTVTTEPENRSLTIKLRKRKPEKKVEWTSDTVDNEHMGRRSSKCCCIYEKPRAFGESSTESDEEEEEGCGHTHCVRGHRKGRRRATLGPTPTTPPQPPDPSQPPPGPMQH

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein phosphatase 1 binding [GO:0008157]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; ubiquitin protein ligase activity [GO:0061630]; defense response to Gram-positive bacterium [GO:0050830]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; negative regulation of protein dephosphorylation [GO:0035308]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: B7ZBB8
geneSymbol: PPP1R3G
name: Protein phosphatase 1 regulatory subunit 3G
length: 358
go: ENSG00000219607;
snps: rs436556
sequence:

opentargets:
cytoplasm [GO:0005737]; glycogen binding [GO:2001069]; protein phosphatase binding [GO:0019903]; glucose homeostasis [GO:0042593]; positive regulation of glycogen (starch) synthase activity [GO:2000467]; positive regulation of glycogen biosynthetic process [GO:0045725]


uniprotID: P16298
geneSymbol: PPP3CB
reactome: R-HSA-180024;R-HSA-2025928;R-HSA-2871809;R-HSA-4086398;R-HSA-5607763;R-HSA-9010642;
pdb: 4OR9;4ORA;4ORC;
length: 524
go: ENSG00000107758;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19154138}.
name:
Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (EC 3.1.3.16) (CAM-PRP catalytic subunit) (Calmodulin-dependent calcineurin A subunit beta isoform) (CNA beta)

sequence:

opentargets:
calcineurin complex [GO:0005955]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; calmodulin-dependent protein phosphatase activity [GO:0033192]; drug binding [GO:0008144]; enzyme binding [GO:0019899]; protein dimerization activity [GO:0046983]; protein phosphatase 2B binding [GO:0030346]; protein serine/threonine phosphatase activity [GO:0004722]; axon extension [GO:0048675]; calcineurin-mediated signaling [GO:0097720]; calcineurin-NFAT signaling cascade [GO:0033173]; calcium ion regulated exocytosis [GO:0017156]; cellular response to drug [GO:0035690]; dephosphorylation [GO:0016311]; Fc-epsilon receptor signaling pathway [GO:0038095]; heart development [GO:0007507]; learning [GO:0007612]; locomotion involved in locomotory behavior [GO:0031987]; lymphangiogenesis [GO:0001946]; memory [GO:0007613]; negative regulation of T cell mediated cytotoxicity [GO:0001915]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein dephosphorylation [GO:0006470]; protein phosphorylation [GO:0006468]; regulation of insulin secretion [GO:0050796]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic vesicle endocytosis [GO:1900242]; response to cytokine [GO:0034097]; signal transduction [GO:0007165]; social behavior [GO:0035176]; T cell activation [GO:0042110]; T cell differentiation [GO:0030217]; T cell homeostasis [GO:0043029]; T cell proliferation [GO:0042098]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist. Calcineurin A beta isoform consists of at least two isoenzymes that may result from alternative splicing events.; Name=1; IsoId=P16298-1; Sequence=Displayed; Name=2; IsoId=P16298-2; Sequence=VSP_005096, VSP_005097; Name=3; IsoId=P16298-3; Sequence=VSP_043803, VSP_012617; Name=4; IsoId=P16298-4; Sequence=VSP_043803; Note=No experimental confirmation available.; 


uniprotID: A8MPX8
geneSymbol: PP2D1
name: Protein phosphatase 2C-like domain-containing protein 1
length: 630
go: ENSG00000183977;
opentargets: protein serine/threonine phosphatase activity [GO:0004722]
snps: rs9882323 rs7652446 rs4103004
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A8MPX8-1; Sequence=Displayed; Name=2; IsoId=A8MPX8-2; Sequence=VSP_031721, VSP_031722; Note=No experimental confirmation available.; Name=3; IsoId=A8MPX8-3; Sequence=VSP_031723, VSP_031724; Note=No experimental confirmation available.; 


uniprotID: Q6PEW0
geneSymbol: PRSS54
name: Inactive serine protease 54 (Cancer/testis antigen 67) (CT67) (Plasma kallikrein-like protein 4)
length: 395
go: ENSG00000103023;
snps: rs3815803 rs1052276 rs2241414
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q8WWY3
geneSymbol: PRPF31
reactome: R-HSA-72163;
pdb: 2OZB;3JCR;3SIU;3SIV;5O9Z;
length: 499
go: ENSG00000105618;
snps: rs119475043 rs119475042
name:
U4/U6 small nuclear ribonucleoprotein Prp31 (Pre-mRNA-processing factor 31) (Serologically defined breast cancer antigen NY-BR-99) (U4/U6 snRNP 61 kDa protein) (Protein 61K) (hPrp31)

sequence:

opentargets:
Cajal body [GO:0015030]; MLL1 complex [GO:0071339]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; U2-type spliceosomal complex [GO:0005684]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U4atac snRNP [GO:0005690]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; snRNP binding [GO:0070990]; U4 snRNA binding [GO:0030621]; U4atac snRNA binding [GO:0030622]; mRNA splicing, via spliceosome [GO:0000398]; ribonucleoprotein complex localization [GO:0071166]; spliceosomal tri-snRNP complex assembly [GO:0000244]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WWY3-1; Sequence=Displayed; Name=2; IsoId=Q8WWY3-2; Sequence=VSP_017582, VSP_017584; Note=No experimental confirmation available.; Name=3; IsoId=Q8WWY3-3; Sequence=VSP_017581, VSP_017583; Note=No experimental confirmation available.; Name=4; IsoId=Q8WWY3-4; Sequence=VSP_057390; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}. Nucleus speckle {ECO:0000269|PubMed:11867543}. Nucleus, Cajal body {ECO:0000269|PubMed:11867543}. Note=Predominantly found in speckles and in Cajal bodies. {ECO:0000269|PubMed:11867543}.


uniprotID: Q8NF86
geneSymbol: PRSS33
name: Serine protease 33 (EC 3.4.21.-) (Serine protease EOS)
length: 280
go: ENSG00000103355;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; protein kinase C signaling [GO:0070528]; proteolysis [GO:0006508]


uniprotID: Q8TAE6
geneSymbol: PPP1R14C
length: 165
go: ENSG00000198729;
snps: rs2297672
name:
Protein phosphatase 1 regulatory subunit 14C (Kinase-enhanced PP1 inhibitor) (PKC-potentiated PP1 inhibitory protein) (Serologically defined breast cancer antigen NY-BR-81)

sequence:
MSVATGSSETAGGASGGGARVFFQSPRGGAGGSPGSSSGSGSSREDSAPVATAAAAGQVQQQQQRRHQQGKVTVKYDRKELRKRLVLEEWIVEQLGQLYGCEEEEMPEVEIDIDDLLDADSDEERASKLQEALVDCYKPTEEFIKELLSRIRGMRKLSPPQKKSV

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; regulation of phosphorylation [GO:0042325]


uniprotID: P62937
geneSymbol: PPIA
length: 165
go: ENSG00000196262;
drug: DB01742;DB00091;DB02419;DB00172;
reactome:
R-HSA-114608;R-HSA-162585;R-HSA-162588;R-HSA-162592;R-HSA-162594;R-HSA-164516;R-HSA-164525;R-HSA-173107;R-HSA-175474;R-HSA-180689;R-HSA-2025928;R-HSA-210991;R-HSA-6798695;R-HSA-8950505;

pdb:
1AK4;1AWQ;1AWR;1AWS;1AWT;1AWU;1AWV;1BCK;1CWA;1CWB;1CWC;1CWF;1CWH;1CWI;1CWJ;1CWK;1CWL;1CWM;1CWO;1FGL;1M63;1M9C;1M9D;1M9E;1M9F;1M9X;1M9Y;1MF8;1MIK;1NMK;1OCA;1RMH;1VBS;1VBT;1W8L;1W8M;1W8V;1YND;1ZKF;2ALF;2CPL;2CYH;2MS4;2MZU;2N0T;2RMA;2RMB;2X25;2X2A;2X2C;2X2D;2XGY;3CYH;3CYS;3K0M;3K0N;3K0O;3K0P;3K0Q;3K0R;3ODI;3ODL;3RDD;4CYH;4IPZ;4N1M;4N1N;4N1O;4N1P;4N1Q;4N1R;4N1S;4YUG;4YUH;4YUI;4YUJ;4YUK;4YUL;4YUM;4YUN;4YUO;4YUP;5CYH;5F66;5FJB;5KUL;5KUN;5KUO;5KUQ;5KUR;5KUS;5KUU;5KUV;5KUW;5KUZ;5KV0;5KV1;5KV2;5KV3;5KV4;5KV5;5KV6;5KV7;5LUD;5NOQ;5NOR;5NOS;5NOT;5NOU;5NOV;5NOW;5NOX;5NOY;5NOZ;5T9U;5T9W;5T9Z;5TA2;5TA4;5WC7;6BTA;

name:
Peptidyl-prolyl cis-trans isomerase A (PPIase A) (EC 5.2.1.8) (Cyclophilin A) (Cyclosporin A-binding protein) (Rotamase A) [Cleaved into: Peptidyl-prolyl cis-trans isomerase A, N-terminally processed]

sequence:
MVNPTVFFDIAVDGEPLGRVSFELFADKVPKTAENFRALSTGEKGFGYKGSCFHRIIPGFMCQGGDFTRHNGTGGKSIYGEKFEDENFILKHTGPGILSMANAGPNTNGSQFFICTAKTEWLDGKHVVFGKVKEGMNIVEAMERFGSRNGKTSKKITIADCGQLE

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; vesicle [GO:0031982]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; virion binding [GO:0046790]; entry into host cell [GO:0030260]; establishment of integrated proviral latency [GO:0075713]; fusion of virus membrane with host plasma membrane [GO:0019064]; interleukin-12-mediated signaling pathway [GO:0035722]; leukocyte migration [GO:0050900]; lipid droplet organization [GO:0034389]; neutrophil degranulation [GO:0043312]; positive regulation of protein secretion [GO:0050714]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; regulation of viral genome replication [GO:0045069]; RNA-dependent DNA biosynthetic process [GO:0006278]; uncoating of virus [GO:0019061]; viral life cycle [GO:0019058]; viral release from host cell [GO:0019076]; virion assembly [GO:0019068]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62937-1; Sequence=Displayed; Name=2; IsoId=P62937-2; Sequence=VSP_056050; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16527992}. Secreted {ECO:0000269|PubMed:16527992}. Note=Secretion occurs in response to oxidative stress in vascular smooth muscle through a vesicular secretory pathway that involves actin remodeling and myosin II activation, and mediates ERK1/2 activation.


uniprotID: O00743
geneSymbol: PPP6C
reactome: R-HSA-204005;
length: 305
go: ENSG00000119414;
name:
Serine/threonine-protein phosphatase 6 catalytic subunit (PP6C) (EC 3.1.3.16) [Cleaved into: Serine/threonine-protein phosphatase 6 catalytic subunit, N-terminally processed]

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; COPII vesicle coating [GO:0048208]; G1/S transition of mitotic cell cycle [GO:0000082]; innate immune response [GO:0045087]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00743-1; Sequence=Displayed; Name=2; IsoId=O00743-2; Sequence=VSP_038376; Name=3; IsoId=O00743-3; Sequence=VSP_041158; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:29053956}. Cytoplasm {ECO:0000269|PubMed:16769727, ECO:0000269|PubMed:17568194}.


uniprotID: Q9H4Q3
geneSymbol: PRDM13
name: PR domain zinc finger protein 13 (EC 2.1.1.-) (PR domain-containing protein 13)
length: 707
go: ENSG00000112238;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity [GO:0042054]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neurogenesis [GO:0022008]


uniprotID: Q9NNZ6
geneSymbol: PRM3
name: Protamine-3 (Sperm protamine P3)
length: 103
snps: rs429744
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Chromosome {ECO:0000250}.
sequence:
MGSRCAKLNTGQSPGHSPGHSTGHGRGHESSMKKLMACVSQDNFSLSSAGEEEEEEEEEGEEEEKEELPVQGKLLLLEPERQEEGQKDNAEAQQSPEPKQTPS

opentargets:
cytoplasm [GO:0005737]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; cell differentiation [GO:0030154]; chromosome condensation [GO:0030261]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]


uniprotID: Q01851
geneSymbol: POU4F1
reactome: R-HSA-6804759;
length: 419
go: ENSG00000152192;
name:
POU domain, class 4, transcription factor 1 (Brain-specific homeobox/POU domain protein 3A) (Brain-3A) (Brn-3A) (Homeobox/POU domain protein RDC-1) (Oct-T1)

sequence:

opentargets:
cytoplasm [GO:0005737]; neuron projection [GO:0043005]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; GTPase binding [GO:0051020]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; sequence-specific DNA binding [GO:0043565]; single-stranded DNA binding [GO:0003697]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; axonogenesis [GO:0007409]; cell migration in hindbrain [GO:0021535]; cellular response to cytokine stimulus [GO:0071345]; cellular response to estradiol stimulus [GO:0071392]; central nervous system neuron differentiation [GO:0021953]; habenula development [GO:0021986]; heart development [GO:0007507]; innervation [GO:0060384]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; mesoderm development [GO:0007498]; negative regulation of gene expression [GO:0010629]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of programmed cell death [GO:0043069]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription elongation by RNA polymerase I [GO:2001208]; neuron fate specification [GO:0048665]; neuron projection development [GO:0031175]; peripheral nervous system neuron development [GO:0048935]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of gene expression [GO:0010628]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; proprioception involved in equilibrioception [GO:0051355]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of neurogenesis [GO:0050767]; regulation of signal transduction by p53 class mediator [GO:1901796]; sensory system development [GO:0048880]; suckling behavior [GO:0001967]; synapse assembly [GO:0007416]; trigeminal nerve development [GO:0021559]; ventricular compact myocardium morphogenesis [GO:0003223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Brn-3A-Long {ECO:0000305}; IsoId=Q01851-1; Sequence=Displayed; Name=2; Synonyms=Brn-3A-Short {ECO:0000305}; IsoId=Q01851-2; Sequence=VSP_058636; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12934100}. Cytoplasm {ECO:0000250|UniProtKB:P17208}.


uniprotID: Q15165
geneSymbol: PON2
reactome: R-HSA-2142688;
length: 354
go: ENSG00000105854;
snps: rs12026 rs17876152 rs7493
name:
Serum paraoxonase/arylesterase 2 (PON 2) (EC 3.1.1.2) (EC 3.1.1.81) (Aromatic esterase 2) (A-esterase 2) (Serum aryldialkylphosphatase 2)

sequence:

opentargets:
extracellular region [GO:0005576]; lysosome [GO:0005764]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; acyl-L-homoserine-lactone lactonohydrolase activity [GO:0102007]; arylesterase activity [GO:0004064]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; aromatic compound catabolic process [GO:0019439]; lipoxygenase pathway [GO:0019372]; response to oxidative stress [GO:0006979]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q15165-2; Sequence=Displayed; Name=1; IsoId=Q15165-1; Sequence=VSP_004533; Name=3; IsoId=Q15165-3; Sequence=VSP_040715; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11579088}; Peripheral membrane protein {ECO:0000269|PubMed:11579088}.


uniprotID: P0CG39
geneSymbol: POTEJ
name: POTE ankyrin domain family member J
length: 1038
go: ENSG00000222038;
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; retina homeostasis [GO:0001895]


uniprotID: Q96T49
geneSymbol: PPP1R16B
length: 567
go: ENSG00000101445;
name:
Protein phosphatase 1 regulatory inhibitor subunit 16B (Ankyrin repeat domain-containing protein 4) (CAAX box protein TIMAP) (TGF-beta-inhibited membrane-associated protein) (hTIMAP)

sequence:

opentargets:
cell projection [GO:0042995]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein phosphatase regulator activity [GO:0019888]; establishment of endothelial barrier [GO:0061028]; negative regulation of peptidyl-serine dephosphorylation [GO:1902309]; negative regulation of protein dephosphorylation [GO:0035308]; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903589]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of protein dephosphorylation [GO:0035307]; regulation of filopodium assembly [GO:0051489]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of protein dephosphorylation [GO:0035304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96T49-1; Sequence=Displayed; Name=2; IsoId=Q96T49-2; Sequence=VSP_047508; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18586956, ECO:0000269|PubMed:26497934}. Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Nucleus {ECO:0000269|PubMed:18586956}. Cell projection {ECO:0000269|PubMed:25007873}. Note=Colocalizes with RPSA/LAMR1 in the cell membrane (PubMed:16263087). Localizes to the perinuclear region (By similarity). Colocalizes with PTEN at the tip of EC projections (PubMed:25007873). {ECO:0000250|UniProtKB:Q95N27, ECO:0000269|PubMed:16263087, ECO:0000269|PubMed:25007873}.


uniprotID: Q08209
geneSymbol: PPP3CA
reactome: R-HSA-180024;R-HSA-2025928;R-HSA-2871809;R-HSA-4086398;R-HSA-5607763;
pdb: 1AUI;1M63;1MF8;2JOG;2JZI;2P6B;2R28;2W73;3LL8;4F0Z;4Q5U;5C1V;5SVE;
length: 521
go: ENSG00000138814;
drug: DB08231;
name:
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform (EC 3.1.3.16) (CAM-PRP catalytic subunit) (Calmodulin-dependent calcineurin A subunit alpha isoform)

sequence:

opentargets:
calcineurin complex [GO:0005955]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; sarcolemma [GO:0042383]; Schaffer collateral - CA1 synapse [GO:0098685]; slit diaphragm [GO:0036057]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; calmodulin-dependent protein phosphatase activity [GO:0033192]; cyclosporin A binding [GO:0016018]; drug binding [GO:0008144]; enzyme binding [GO:0019899]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein serine/threonine phosphatase activity [GO:0004722]; brain development [GO:0007420]; calcineurin-mediated signaling [GO:0097720]; calcineurin-NFAT signaling cascade [GO:0033173]; calcium ion transport [GO:0006816]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cellular response to drug [GO:0035690]; cellular response to glucose stimulus [GO:0071333]; dephosphorylation [GO:0016311]; excitatory postsynaptic potential [GO:0060079]; Fc-epsilon receptor signaling pathway [GO:0038095]; G1/S transition of mitotic cell cycle [GO:0000082]; multicellular organismal response to stress [GO:0033555]; negative regulation of chromatin binding [GO:0035562]; negative regulation of dendrite morphogenesis [GO:0050774]; negative regulation of insulin secretion [GO:0046676]; negative regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903799]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of cardiac muscle hypertrophy in response to stress [GO:1903244]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of connective tissue replacement [GO:1905205]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endocytosis [GO:0045807]; positive regulation of transcription by RNA polymerase II [GO:0045944]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; protein dephosphorylation [GO:0006470]; protein import into nucleus [GO:0006606]; response to amphetamine [GO:0001975]; response to calcium ion [GO:0051592]; skeletal muscle fiber development [GO:0048741]; T cell activation [GO:0042110]; transition between fast and slow fiber [GO:0014883]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q08209-1; Sequence=Displayed; Name=2; IsoId=Q08209-2; Sequence=VSP_018562; Name=3; IsoId=Q08209-3; Sequence=VSP_043378, VSP_018562; Name=4; IsoId=Q08209-4; Sequence=VSP_047755; Name=5; IsoId=Q08209-5; Sequence=VSP_054467; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:22343722}. Cell membrane {ECO:0000269|PubMed:22343722}; Peripheral membrane protein {ECO:0000269|PubMed:22343722}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P63329}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:P63329}. Cell projection, dendritic spine {ECO:0000269|PubMed:22343722}. Note=Colocalizes with ACTN1 and MYOZ2 at the Z line in heart and skeletal muscle (By similarity). Recruited to the cell membrane by scaffold protein AKAP5 following L-type Ca(2+)-channel activation (PubMed:22343722). {ECO:0000250|UniProtKB:P63329, ECO:0000269|PubMed:22343722}.


uniprotID: Q9ULR3
geneSymbol: PPM1H
name: Protein phosphatase 1H (EC 3.1.3.16)
length: 514
go: ENSG00000111110;
sequence:

opentargets:
cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; phosphoprotein phosphatase activity [GO:0004721]; protein serine/threonine phosphatase activity [GO:0004722]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22586611}. Cytoplasm {ECO:0000269|PubMed:22586611}.


uniprotID: Q8NEY8
geneSymbol: PPHLN1
name: Periphilin-1 (CDC7 expression repressor) (CR) (Gastric cancer antigen Ga50)
length: 458
go: ENSG00000134283;
snps: rs140585847
sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; keratinization [GO:0031424]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q8NEY8-1; Sequence=Displayed; Name=2; Synonyms=CR {ECO:0000303|PubMed:15474462}; IsoId=Q8NEY8-2; Sequence=VSP_009899, VSP_009905, VSP_009906; Name=3; IsoId=Q8NEY8-3; Sequence=VSP_009900, VSP_009907; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q8NEY8-5; Sequence=VSP_009899, VSP_009900, VSP_009903, VSP_009904; Note=No experimental confirmation available. May be due to intron retention.; Name=6; Synonyms=CR-S {ECO:0000303|PubMed:15474462}; IsoId=Q8NEY8-6; Sequence=VSP_009899, VSP_009900, VSP_009905, VSP_009906; Name=7; IsoId=Q8NEY8-7; Sequence=VSP_009898, VSP_009902, VSP_009903, VSP_009904; Note=No experimental confirmation available. May be due to intron retention.; Name=8; IsoId=Q8NEY8-8; Sequence=VSP_009905, VSP_009906; Note=No experimental confirmation available.; Name=9; IsoId=Q8NEY8-9; Sequence=VSP_054078, VSP_009905, VSP_009906; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12853457, ECO:0000269|PubMed:15474462, ECO:0000269|PubMed:26022416}. Cytoplasm {ECO:0000269|PubMed:12853457}. Chromosome {ECO:0000269|PubMed:26022416}. Note=In undifferentiated keratinocytes expressed in speckle-type nuclear granules and at the nuclear membrane, but in the differentiated keratinocytes colocalized with periplakin at the cell periphery and at cell-cell junctions (PubMed:12853457). Localizes to chromatin (PubMed:26022416). {ECO:0000269|PubMed:12853457, ECO:0000269|PubMed:26022416}.


uniprotID: Q5JRX3
geneSymbol: PITRM1
reactome: R-HSA-1268020;
pdb: 4L3T;4NGE;4RPU;
length: 1037
go: ENSG00000107959;
name:
Presequence protease, mitochondrial (hPreP) (EC 3.4.24.-) (Pitrilysin metalloproteinase 1) (Metalloprotease 1) (hMP1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; enzyme activator activity [GO:0008047]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; protein targeting to mitochondrion [GO:0006626]; proteolysis [GO:0006508]

snps:
rs11818724 rs9423502 rs3814596 rs4242746 rs3182535 rs3765101 rs12248937 rs2388556 rs34837384 rs2279219 rs17849904 rs2279218 rs6901 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JRX3-1; Sequence=Displayed; Name=2; IsoId=Q5JRX3-2; Sequence=VSP_020597; Note=No experimental confirmation available.; Name=3; IsoId=Q5JRX3-3; Sequence=VSP_046494, VSP_046495; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:16849325, ECO:0000269|PubMed:19196155}.


uniprotID: Q8TCU6
geneSymbol: PREX1
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 3QIK;4YON;5D27;5D3V;5D3W;5D3X;5D3Y;5FI0;5FI1;
length: 1659
go: ENSG00000124126;
snps: rs55904123 rs7271583 rs41283558 rs6012504 rs16993997 rs2664521 rs3936192
name:
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein (P-Rex1) (PtdIns(3,4,5)-dependent Rac exchanger 1)

sequence:

opentargets:
cytosol [GO:0005829]; dendritic shaft [GO:0043198]; growth cone [GO:0030426]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; enzyme binding [GO:0019899]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; phospholipid binding [GO:0005543]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin filament polymerization [GO:0030041]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; neutrophil activation [GO:0042119]; neutrophil chemotaxis [GO:0030593]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell migration [GO:0030335]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of actin filament polymerization [GO:0030833]; regulation of dendrite development [GO:0050773]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; superoxide metabolic process [GO:0006801]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TCU6-1; Sequence=Displayed; Name=2; IsoId=Q8TCU6-2; Sequence=VSP_001818, VSP_001819; Name=3; IsoId=Q8TCU6-3; Sequence=VSP_015090, VSP_015091; Note=Gene prediction based on EST data. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane. Note=Mainly cytosolic. Some amount is apparently associated to the plasma membrane.


uniprotID: Q9NRX1
geneSymbol: PNO1
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 6G18;6G4S;6G4W;6G51;6G53;6G5I;
name: RNA-binding protein PNO1
length: 252
go: ENSG00000115946;
snps: rs2044693 rs7590838
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15497447}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]


uniprotID: Q8TC44
geneSymbol: POC1B
length: 478
go: ENSG00000139323;
snps: rs76216585
name:
POC1 centriolar protein homolog B (Pix1) (Proteome of centriole protein 1B) (WD repeat-containing protein 51B)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; spindle pole [GO:0000922]; cell proliferation [GO:0008283]; cilium assembly [GO:0060271]; retina homeostasis [GO:0001895]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TC44-1; Sequence=Displayed; Name=2; IsoId=Q8TC44-2; Sequence=VSP_047066; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:19109428, ECO:0000269|PubMed:23015594}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:20008567}. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles. Localizes to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. {ECO:0000250|UniProtKB:Q8BHD1}.


uniprotID: Q7Z3K3
geneSymbol: POGZ
pdb: 2E72;2N3A;6EMP;
length: 1410
go: ENSG00000143442;
snps: rs35198305
name:
Pogo transposable element with ZNF domain (Suppressor of hairy wing homolog 5) (Zinc finger protein 280E) (Zinc finger protein 635)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cell division [GO:0051301]; kinetochore assembly [GO:0051382]; mitotic sister chromatid cohesion [GO:0007064]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q7Z3K3-1; Sequence=Displayed; Name=2; IsoId=Q7Z3K3-2; Sequence=VSP_010185; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z3K3-3; Sequence=VSP_010185, VSP_010186; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z3K3-4; Sequence=VSP_010187, VSP_010188; Note=No experimental confirmation available.; Name=5; Synonyms=CRA_e; IsoId=Q7Z3K3-5; Sequence=VSP_030150; Note=Gene prediction based on EST data.; Name=6; IsoId=Q7Z3K3-6; Sequence=VSP_046785; Name=7; IsoId=Q7Z3K3-7; Sequence=VSP_010185, VSP_046785; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Cytoplasm. Note=According to some authors, it is not localized to mitotic chromatin (PubMed:19244240). Recruited to trimethylated 'Lys-9' of histone H3 (H3K9me3). {ECO:0000269|PubMed:19244240}.


uniprotID: Q9NP85
geneSymbol: NPHS2
reactome: R-HSA-373753;
name: Podocin
length: 383
go: ENSG00000116218;
sequence:

opentargets:
cell-cell junction [GO:0005911]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; intrinsic component of the cytoplasmic side of the plasma membrane [GO:0031235]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; slit diaphragm [GO:0036057]; actin cytoskeleton reorganization [GO:0031532]; excretion [GO:0007588]; metanephric glomerular visceral epithelial cell development [GO:0072249]

snps:
rs74315344 rs1340195940 rs561887984 rs201050491 rs74315345 rs200913299 rs869025495 rs750332447 rs750332447 rs74315342 rs12240233 rs74315346 rs786204583 rs530318579 rs74315347 rs200587413 rs61747728 rs146906190 rs748812981 rs61747727 rs775006954 rs369697947 rs780761368 rs200482683 rs74315348 rs199506378 rs776859868 rs866921812 rs1214047676 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP85-1; Sequence=Displayed; Name=2; Synonyms=Pod-short; IsoId=Q9NP85-2; Sequence=VSP_000499; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum {ECO:0000269|PubMed:23648087}.


uniprotID: Q8N131
geneSymbol: TMEM123
length: 208
go: ENSG00000152558;
snps: rs2155587 rs11547915 rs12288849
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Porimin (Keratinocytes-associated transmembrane protein 3) (KCT-3) (Pro-oncosis receptor inducing membrane injury) (Transmembrane protein 123)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor activity [GO:0038023]; oncosis [GO:0070267]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N131-1; Sequence=Displayed; Name=2; IsoId=Q8N131-2; Sequence=VSP_016605; 


uniprotID: Q9NUX5
geneSymbol: POT1
reactome: R-HSA-1221632;R-HSA-171306;R-HSA-2559586;
pdb: 1XJV;3KJO;3KJP;5H65;5UN7;
name: Protection of telomeres protein 1 (hPot1) (POT1-like telomere end-binding protein)
length: 634
go: ENSG00000128513;
sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; nuclear chromosome, telomeric region [GO:0000784]; nuclear telomere cap complex [GO:0000783]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; shelterin complex [GO:0070187]; 8-hydroxy-2'-deoxyguanosine DNA binding [GO:1905773]; DEAD/H-box RNA helicase binding [GO:0017151]; G-rich single-stranded DNA binding [GO:1990955]; G-rich strand telomeric DNA binding [GO:0098505]; single-stranded telomeric DNA binding [GO:0043047]; telomerase inhibitor activity [GO:0010521]; telomeric D-loop binding [GO:0061821]; telomeric DNA binding [GO:0042162]; DNA duplex unwinding [GO:0032508]; establishment of protein localization to telomere [GO:0070200]; negative regulation of telomerase activity [GO:0051974]; negative regulation of telomere maintenance via telomerase [GO:0032211]; positive regulation of DNA helicase activity [GO:1905776]; positive regulation of DNA strand elongation [GO:0060383]; positive regulation of helicase activity [GO:0051096]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere maintenance via telomerase [GO:0032212]; regulation of DNA helicase activity [GO:1905774]; regulation of telomere maintenance via telomerase [GO:0032210]; telomere assembly [GO:0032202]; telomere capping [GO:0016233]; telomere maintenance via telomerase [GO:0007004]; telomeric D-loop disassembly [GO:0061820]

snps:
rs587777472 rs587777474 rs797045168 rs587777475 rs202187871 rs587777477 rs587777476 rs34973253 rs587777478 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=A number of isoforms are produced.; Name=1; Synonyms=Variant 1; IsoId=Q9NUX5-1; Sequence=Displayed; Name=2; Synonyms=Variant 3; IsoId=Q9NUX5-2; Sequence=VSP_010846, VSP_010847; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12391173}. Chromosome, telomere {ECO:0000269|PubMed:12391173}. Note=Colocalizes with telomeric DNA.


uniprotID: Q6S5H5
geneSymbol: POTEG
length: 508
go: ENSG00000187537;
name:
POTE ankyrin domain family member G (ANKRD26-like family C member 2) (Prostate, ovary, testis-expressed protein on chromosome 14) (POTE-14)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; Synonyms=POTE14A; IsoId=Q6S5H5-3; Sequence=Displayed; Name=2; Synonyms=POTE14C; IsoId=Q6S5H5-2; Sequence=VSP_040057; 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=1; Synonyms=POTE14B; IsoId=Q6S5H5-4; Sequence=VSP_040056; 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: Q9HBV1
geneSymbol: POPDC3
name: Popeye domain-containing protein 3 (Popeye protein 3)
length: 291
go: ENSG00000132429;
snps: rs11961225
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; sarcolemma [GO:0042383]; cAMP binding [GO:0030552]; heart development [GO:0007507]; regulation of membrane potential [GO:0042391]; skeletal muscle tissue development [GO:0007519]


uniprotID: Q13427
geneSymbol: PPIG
pdb: 2GW2;2WFI;2WFJ;5YZG;
length: 754
go: ENSG00000138398;
drug: DB00172;
snps: rs1050354 rs8207
name:
Peptidyl-prolyl cis-trans isomerase G (PPIase G) (Peptidyl-prolyl isomerase G) (EC 5.2.1.8) (CASP10) (Clk-associating RS-cyclophilin) (CARS-Cyp) (CARS-cyclophilin) (SR-cyclophilin) (SR-cyp) (SRcyp) (Cyclophilin G) (Rotamase G)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; protein peptidyl-prolyl isomerization [GO:0000413]; protein refolding [GO:0042026]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13427-1; Sequence=Displayed; Name=2; IsoId=Q13427-2; Sequence=VSP_009662, VSP_009663; 

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000269|PubMed:15358154}. Nucleus speckle {ECO:0000269|PubMed:15358154}. Note=Colocalizes with RNA splicing factors at nuclear speckles. {ECO:0000269|PubMed:15358154}.


uniprotID: O95428
geneSymbol: PAPLN
name: Papilin
length: 1278
go: ENSG00000100767;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; peptidase activity [GO:0008233]; serine-type endopeptidase inhibitor activity [GO:0004867]

snps:
rs2280792 rs741842 rs17126331 rs17126352 rs17126354 rs17182244 rs2242616 rs177386 rs2107731 rs4903104 rs11626824 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O95428-1; Sequence=Displayed; Name=2; IsoId=O95428-2; Sequence=VSP_032269, VSP_032272; Note=No experimental confirmation available.; Name=5; IsoId=O95428-5; Sequence=VSP_037596; Name=6; IsoId=O95428-6; Sequence=VSP_037595; Note=No experimental confirmation available.; Name=3; IsoId=O95428-3; Sequence=VSP_032270, VSP_032271; Note=No experimental confirmation available.; Name=4; IsoId=O95428-4; Sequence=VSP_032273, VSP_032274; Note=No experimental confirmation available.; 


uniprotID: Q8WVI7
geneSymbol: PPP1R1C
name: Protein phosphatase 1 regulatory subunit 1C (Inhibitor-5 of protein phosphatase 1) (IPP5)
length: 109
go: ENSG00000150722;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MEPNSPKKIQFAVPVFQSQIAPEAAEQIRKRRPTPASLVILNEHNPPEIDDKRGPNTQGELQNASPKQRKQSVYTPPTIKGVKHLKGQNESAFPEEEEGTNEREEQRDH

opentargets:
cytoplasm [GO:0005737]; protein phosphatase inhibitor activity [GO:0004864]; cell cycle [GO:0007049]; cell division [GO:0051301]; intracellular signal transduction [GO:0035556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVI7-1; Sequence=Displayed; Name=2; IsoId=Q8WVI7-2; Sequence=VSP_025061; 


uniprotID: Q9HCU5
geneSymbol: PREB
reactome: R-HSA-204005;R-HSA-381038;R-HSA-5694530;
pdb: 5TF2;
name: Prolactin regulatory element-binding protein (Mammalian guanine nucleotide exchange factor mSec12)
length: 417
go: ENSG00000138073;
sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; nucleus [GO:0005634]; DNA binding [GO:0003677]; GTPase activator activity [GO:0005096]; GTPase binding [GO:0051020]; guanyl-nucleotide exchange factor activity [GO:0005085]; Sar guanyl-nucleotide exchange factor activity [GO:0005090]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; IRE1-mediated unfolded protein response [GO:0036498]; protein exit from endoplasmic reticulum [GO:0032527]; protein secretion [GO:0009306]; regulation of COPII vesicle coating [GO:0003400]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9WTV0}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9WTV0}. Nucleus {ECO:0000250|UniProtKB:Q9WTV0}. Note=Concentrates at endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). {ECO:0000269|PubMed:25202031, ECO:0000269|PubMed:28442536}.


uniprotID: Q3B8N5
geneSymbol: PROX2
name: Prospero homeobox protein 2 (Homeobox prospero-like protein PROX2) (PROX-2)
length: 592
go: ENSG00000119608;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; lens fiber cell morphogenesis [GO:0070309]; lymphangiogenesis [GO:0001946]; lymphatic endothelial cell differentiation [GO:0060836]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3B8N5-1; Sequence=Displayed; Name=2; IsoId=Q3B8N5-2; Sequence=VSP_034528; Note=No experimental confirmation available.; 


