# annotation

uniprotID: Q5TKA1
geneSymbol: LIN9
reactome: R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-156711;R-HSA-539107;R-HSA-69202;R-HSA-69656;
pdb: 6C48;
length: 542
go: ENSG00000183814;
name:
Protein lin-9 homolog (HuLin-9) (hLin-9) (Beta subunit-associated regulator of apoptosis) (TUDOR gene similar protein) (Type I interferon receptor beta chain-associated protein) (pRB-associated protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; cell cycle [GO:0007049]; DNA biosynthetic process [GO:0071897]; regulation of cell cycle [GO:0051726]; reproduction [GO:0000003]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Lin9-L, Long form; IsoId=Q5TKA1-1; Sequence=Displayed; Name=2; IsoId=Q5TKA1-2; Sequence=VSP_020509; Name=3; Synonyms=Lin9-S, Short form; IsoId=Q5TKA1-3; Sequence=VSP_020510; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:15538385, ECO:0000269|PubMed:16730350}. Note=Found in perinucleolar structures. Associated with chromatin.


uniprotID: Q7Z4I7
geneSymbol: LIMS2
reactome: R-HSA-446353;
pdb: 3IXE;
length: 341
go: ENSG00000072163;
snps: rs754385302 rs768056213 rs869025562
name:
LIM and senescent cell antigen-like-containing domain protein 2 (LIM-like protein 2) (Particularly interesting new Cys-His protein 2) (PINCH-2)

sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; cell junction assembly [GO:0034329]; cell-cell adhesion [GO:0098609]; cell-cell junction organization [GO:0045216]; negative regulation of apoptotic process [GO:0043066]; negative regulation of hepatocyte proliferation [GO:2000346]; negative regulation of neural precursor cell proliferation [GO:2000178]; positive regulation of integrin-mediated signaling pathway [GO:2001046]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=LIM-like protein 2B; IsoId=Q7Z4I7-1; Sequence=Displayed; Name=2; Synonyms=LIM-like protein 2A; IsoId=Q7Z4I7-2; Sequence=VSP_021917; Name=3; Synonyms=LIM-like protein 2C; IsoId=Q7Z4I7-3; Sequence=VSP_021916; Name=4; IsoId=Q7Z4I7-4; Sequence=VSP_045539; Name=5; IsoId=Q7Z4I7-5; Sequence=VSP_046078; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cell junction, focal adhesion {ECO:0000269|PubMed:12167643}. Cell membrane {ECO:0000269|PubMed:12167643}; Peripheral membrane protein {ECO:0000269|PubMed:12167643}; Cytoplasmic side {ECO:0000269|PubMed:12167643}.


uniprotID: Q8NG48
geneSymbol: LINS1
name: Protein Lines homolog 1 (Wnt-signaling molecule Lines homolog 1)
length: 757
go: ENSG00000140471;
opentargets: cognition [GO:0050890]
snps: rs11247226 rs1057519019 rs34967129 rs12719734 rs2411837 rs12915007 rs12157 rs8451
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NG48-1; Sequence=Displayed; Name=2; IsoId=Q8NG48-2; Sequence=VSP_031142, VSP_031145; Note=No experimental confirmation available.; Name=3; IsoId=Q8NG48-3; Sequence=VSP_031143, VSP_031144; Note=No experimental confirmation available.; 


uniprotID: O75334
geneSymbol: PPFIA2
reactome: R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-388844;
pdb: 3TAC;3TAD;
length: 1257
go: ENSG00000139220;
name:
Liprin-alpha-2 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-2) (PTPRF-interacting protein alpha-2)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; presynaptic active zone [GO:0048786]; structural constituent of presynapse [GO:0099181]; cell-matrix adhesion [GO:0007160]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=O75334-1; Sequence=Displayed; Name=2; IsoId=O75334-2; Sequence=VSP_043819, VSP_043820, VSP_043823; Name=3; IsoId=O75334-3; Sequence=VSP_043822; Name=4; IsoId=O75334-4; Sequence=VSP_043821; Name=5; IsoId=O75334-5; Sequence=VSP_046720, VSP_046721, VSP_043821, VSP_043822; Note=No experimental confirmation available.; Name=6; IsoId=O75334-6; Sequence=VSP_046720, VSP_046721, VSP_046722, VSP_043822; Note=No experimental confirmation available.; Name=7; IsoId=O75334-7; Sequence=VSP_046719, VSP_046723, VSP_043823; Note=No experimental confirmation available.; Name=8; IsoId=O75334-8; Sequence=VSP_046718, VSP_046723; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9624153}. Cell surface {ECO:0000269|PubMed:9624153}. Note=Colocalizes with PTPRF at the cell surface.


uniprotID: O75145
geneSymbol: PPFIA3
reactome: R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-388844;
length: 1194
go: ENSG00000177380;
snps: rs2303053
name:
Liprin-alpha-3 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3) (PTPRF-interacting protein alpha-3)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytosol [GO:0005829]; epididymosome [GO:0098875]; glutamatergic synapse [GO:0098978]; presynaptic active zone [GO:0048786]; presynaptic active zone cytoplasmic component [GO:0098831]; neurotransmitter secretion [GO:0007269]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; synaptic vesicle docking [GO:0016081]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75145-1; Sequence=Displayed; Name=2; IsoId=O75145-2; Sequence=VSP_009392; Note=May be due to exon skipping.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q91Z79}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:23124857}. Note=Also detected in epididymosome. {ECO:0000250|UniProtKB:Q91Z79}.


uniprotID: Q13136
geneSymbol: PPFIA1
reactome: R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-388844;
pdb: 1N7F;
length: 1202
go: ENSG00000131626;
snps: rs546502 rs11236045
name:
Liprin-alpha-1 (LAR-interacting protein 1) (LIP-1) (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1) (PTPRF-interacting protein alpha-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; presynaptic active zone [GO:0048786]; cell-matrix adhesion [GO:0007160]; negative regulation of protein localization to plasma membrane [GO:1903077]; negative regulation of stress fiber assembly [GO:0051497]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LAR-interacting protein 1b, LIP.1b, b; IsoId=Q13136-1; Sequence=Displayed; Name=2; Synonyms=LAR-interacting protein 1a, LIP.1a, a; IsoId=Q13136-2; Sequence=VSP_009391; Note=Due to intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7796809}. Note=Colocalizes with PTPRF at the ends of focal adhesions most proximal to the cell nucleus.


uniprotID: Q9BYS1
geneSymbol: KRTAP1-5
reactome: R-HSA-6805567;
length: 174
go: ENSG00000221852;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 1-5 (High sulfur keratin-associated protein 1.5) (Keratin-associated protein 1.5)

sequence:
MTCCQTSFCGYPSFSISGTCGSSCCQPSCCETSCCQPRSCQTSFCGFPSFSTSGTCSSSCCQPSCCETSCCQPSCCETSCCQPSCCQISSCGTGCGIGGGISYGQEGSSGAVSTRIRWCRPDSRVEGTYLPPCCVVSCTPPSCCQLHHAQASCCRPSYCGQSCCRPVCCCEPTC


uniprotID: Q9BYU5
geneSymbol: KRTAP2-1
reactome: R-HSA-6805567;
length: 128
go: ENSG00000212725;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 2-1 (High sulfur keratin-associated protein 2.1) (Keratin-associated protein 2.1)

sequence:
MTGSCCGSTFSSLSYGGGCCQPCCCRDPCCCRPVTCQTTVCRPVTCVPRCTRPICEPCRRPVCCDPCSLQEGCCRPITCCPSSCTAVVCRPCCWATTCCQPVSVQSPCCRPPCGQPTPCSTTCRTSSC


uniprotID: Q5TDP6
geneSymbol: LGSN
name: Lengsin (Glutamate-ammonia ligase domain-containing protein 1) (Lens glutamine synthase-like)
length: 509
go: ENSG00000146166;
drug: DB00142;
snps: rs2459568 rs35691434 rs6454127
sequence:

opentargets:
membrane [GO:0016020]; plasma membrane [GO:0005886]; catalytic activity [GO:0003824]; nitrogen compound metabolic process [GO:0006807]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=LGS_v2; IsoId=Q5TDP6-1; Sequence=Displayed; Name=2; Synonyms=LGS_v1; IsoId=Q5TDP6-2; Sequence=VSP_036482, VSP_036483; Name=3; Synonyms=LGS_v3; IsoId=Q5TDP6-3; Sequence=VSP_036480, VSP_036481; 


uniprotID: Q8N145
geneSymbol: LGI3
reactome: R-HSA-5682910;
length: 548
go: ENSG00000168481;
snps: rs34112456
name:
Leucine-rich repeat LGI family member 3 (LGI1-like protein 4) (Leucine-rich glioma-inactivated protein 3)

sequence:

opentargets:
cell junction [GO:0030054]; extracellular region [GO:0005576]; neuron projection [GO:0043005]; synaptic vesicle [GO:0008021]; catalytic activity [GO:0003824]; exocytosis [GO:0006887]; regulation of exocytosis [GO:0017157]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N145-1; Sequence=Displayed; Name=2; IsoId=Q8N145-2; Sequence=VSP_056297; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Found in the synaptosomal membrane fraction. {ECO:0000250}.


uniprotID: Q9BXB1
geneSymbol: LGR4
reactome: R-HSA-4641263;
pdb: 4KT1;4QXE;4QXF;
name: Leucine-rich repeat-containing G-protein coupled receptor 4 (G-protein coupled receptor 48)
length: 951
go: ENSG00000205213;
snps: rs2448010 rs2472617 rs12284579 rs7125959 rs34717439 rs34804482
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; protein-hormone receptor activity [GO:0016500]; transmembrane signaling receptor activity [GO:0004888]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; bone mineralization [GO:0030282]; bone remodeling [GO:0046849]; canonical Wnt signaling pathway involved in metanephric kidney development [GO:0061290]; cell differentiation involved in metanephros development [GO:0072202]; circadian regulation of gene expression [GO:0032922]; digestive tract development [GO:0048565]; epithelial cell proliferation involved in renal tubule morphogenesis [GO:2001013]; hair follicle development [GO:0001942]; hormone-mediated signaling pathway [GO:0009755]; innate immune response [GO:0045087]; intestinal stem cell homeostasis [GO:0036335]; male genitalia development [GO:0030539]; metanephric glomerulus development [GO:0072224]; metanephric nephron tubule morphogenesis [GO:0072282]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of cytokine secretion [GO:0050710]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoblast differentiation [GO:0001649]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of transcription, DNA-templated [GO:0045893]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXB1-1; Sequence=Displayed; Name=2; IsoId=Q9BXB1-2; Sequence=VSP_047136; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:22815884}; Multi-pass membrane protein {ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:22815884}.


uniprotID: Q86WI0
geneSymbol: LHFPL1
name: LHFPL tetraspan subfamily member 1 protein (Lipoma HMGIC fusion partner-like 1 protein)
length: 220
go: ENSG00000182508;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86WI0-1; Sequence=Displayed; Name=2; IsoId=Q86WI0-2; Sequence=VSP_019617; Note=No experimental confirmation available.; Name=3; IsoId=Q86WI0-3; Sequence=VSP_019616; Note=No experimental confirmation available.; 


uniprotID: Q8TAF8
geneSymbol: LHFPL5
length: 219
go: ENSG00000197753;
snps: rs104893975 rs753739358 rs104893976
name:
LHFPL tetraspan subfamily member 5 protein (Lipoma HMGIC fusion partner-like 5 protein) (Tetraspan membrane protein of hair cell stereocilia)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ion transport [GO:0006811]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q4KL25}; Multi-pass membrane protein {ECO:0000255}. Note=Efficient localization to the plasma membrane requires the presence of PCDH15. {ECO:0000250|UniProtKB:Q4KL25}.


uniprotID: Q9UBR4
geneSymbol: LHX3
reactome: R-HSA-9010553;
name: LIM/homeobox protein Lhx3 (LIM homeobox protein 3)
length: 397
go: ENSG00000107187;
snps: rs104894117 rs137854503
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; animal organ morphogenesis [GO:0009887]; inner ear development [GO:0048839]; lung development [GO:0030324]; medial motor column neuron differentiation [GO:0021526]; motor neuron axon guidance [GO:0008045]; negative regulation of apoptotic process [GO:0043066]; pituitary gland development [GO:0021983]; placenta development [GO:0001890]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; spinal cord association neuron differentiation [GO:0021527]; spinal cord motor neuron cell fate specification [GO:0021520]; ventral spinal cord interneuron specification [GO:0021521]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=A; IsoId=Q9UBR4-1; Sequence=Displayed; Name=B; IsoId=Q9UBR4-2; Sequence=VSP_003107; 


uniprotID: Q969G2
geneSymbol: LHX4
reactome: R-HSA-9010553;
pdb: 5HOD;
name: LIM/homeobox protein Lhx4 (LIM homeobox protein 4)
length: 390
go: ENSG00000121454;
snps: rs121912642 rs121912643 rs121912641 rs7536561 rs145433128
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; methyl-CpG binding [GO:0008327]; sequence-specific DNA binding [GO:0043565]; animal organ morphogenesis [GO:0009887]; medial motor column neuron differentiation [GO:0021526]; motor neuron axon guidance [GO:0008045]; negative regulation of apoptotic process [GO:0043066]; placenta development [GO:0001890]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q99551
geneSymbol: MTERF1
reactome: R-HSA-163316;R-HSA-2151201;
pdb: 3MVA;3MVB;3N6S;3N7Q;5CKY;5CO0;5CRJ;5CRK;
length: 399
go: ENSG00000127989;
snps: rs17856025 rs10266424
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Transcription termination factor 1, mitochondrial (Mitochondrial transcription termination factor 1) (mTERF) (mTERF1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; double-stranded DNA binding [GO:0003690]; RNA binding [GO:0003723]; DNA geometric change [GO:0032392]; DNA-templated transcription, termination [GO:0006353]; mitochondrion organization [GO:0007005]; regulation of transcription, DNA-templated [GO:0006355]; termination of mitochondrial transcription [GO:0006393]


uniprotID: Q9Y483
geneSymbol: MTF2
reactome: R-HSA-212300;
pdb: 5XFR;
length: 593
go: ENSG00000143033;
snps: rs2815427
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Metal-response element-binding transcription factor 2 (Metal regulatory transcription factor 2) (Metal-response element DNA-binding protein M96) (Polycomb-like protein 2) (hPCl2)

sequence:

opentargets:
cytoplasm [GO:0005737]; ESC/E(Z) complex [GO:0035098]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; cellular response to leukemia inhibitory factor [GO:1990830]; chromatin organization [GO:0006325]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of histone H3-K27 methylation [GO:0061086]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of histone H3-K27 methylation [GO:0061087]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; segment specification [GO:0007379]; stem cell differentiation [GO:0048863]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y483-1; Sequence=Displayed; Name=2; IsoId=Q9Y483-2; Sequence=VSP_004696; Name=3; IsoId=Q9Y483-3; Sequence=VSP_040329; Name=4; IsoId=Q9Y483-4; Sequence=VSP_053348; Note=No experimental confirmation available.; 


uniprotID: Q9UGP4
geneSymbol: LIMD1
reactome: R-HSA-1234176;
name: LIM domain-containing protein 1
length: 676
go: ENSG00000144791;
snps: rs2578662 rs3733113
sequence:

opentargets:
adherens junction [GO:0005912]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; P-body [GO:0000932]; plasma membrane [GO:0005886]; RISC complex [GO:0016442]; transcription factor complex [GO:0005667]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; cell migration [GO:0016477]; cytoplasmic mRNA processing body assembly [GO:0033962]; cytoskeleton organization [GO:0007010]; gene silencing by miRNA [GO:0035195]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of hippo signaling [GO:0035331]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoblast development [GO:0002076]; phosphorylation [GO:0016310]; positive regulation of gene silencing by miRNA [GO:2000637]; regulation of cell shape [GO:0008360]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; regulation of transcription, DNA-templated [GO:0006355]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, P-body. Cell junction, adherens junction. Cell junction, focal adhesion. Note=Shuttles between cytoplasm and nucleus but is localized predominantly to the cytoplasm. Found in the nucleus but not nucleoli. Colocalizes with VCL in the focal adhesions. Down-regulation and/or elimination of its expression from the nucleus of neoplastic cells correlates strongly with poor patient prognosis and aggressive forms of breast carcinoma. Conversely, strong nuclear localization correlates with low-tumor grade and better patient prognosis.


uniprotID: Q7L985
geneSymbol: LINGO2
length: 606
go: ENSG00000174482;
snps: rs17506843
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 (Leucine-rich repeat neuronal protein 3) (Leucine-rich repeat neuronal protein 6C)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; positive regulation of synapse assembly [GO:0051965]


uniprotID: Q6UY18
geneSymbol: LINGO4
length: 593
go: ENSG00000213171;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4 (Leucine-rich repeat neuronal protein 6D)

sequence:


uniprotID: Q9UDX5
geneSymbol: MTFP1
name: Mitochondrial fission process protein 1 (Mitochondrial 18 kDa protein) (MTP18)
length: 166
go: ENSG00000242114;
sequence:
MSEPQPRGAERDLYRDTWVRYLGYANEVGEAFRSLVPAAVVWLSYGVASSYVLADAIDKGKKAGEVPSPEAGRSARVTVAVVDTFVWQALASVAIPGFTINRVCAASLYVLGTATRWPLAVRKWTTTALGLLTIPIIIHPIDRSVDFLLDSSLRKLYPTVGKPSSS

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]; mitochondrial fission [GO:0000266]; response to muscle activity [GO:0014850]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UDX5-1; Sequence=Displayed; Name=2; IsoId=Q9UDX5-2; Sequence=VSP_041425; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:15155745, ECO:0000305|PubMed:15985469}; Multi-pass membrane protein {ECO:0000305|PubMed:15155745, ECO:0000305|PubMed:15985469}.


uniprotID: Q52LA3
geneSymbol: LIN52
reactome: R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-156711;R-HSA-539107;R-HSA-69202;R-HSA-69656;
pdb: 4YOO;6C48;
name: Protein lin-52 homolog
length: 116
go: ENSG00000205659;
sequence:
MGWKMASPTDGTDLEASLLSFEKLDRASPDLWPEQLPGVAEFAASFKSPITSSPPKWMAEIERDDIDMLKELGSLTTANLMEKVRGLQNLAYQLGLDESREMTRGKFLNILEKPKK

opentargets:
DRM complex [GO:0070176]; nucleoplasm [GO:0005654]; regulation of cell cycle [GO:0051726]; transcription, DNA-templated [GO:0006351]


uniprotID: Q6P444
geneSymbol: MTFR2
name: Mitochondrial fission regulator 2 (DUF729 domain-containing protein 1)
length: 385
go: ENSG00000146410;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Note=Associated with membranes. {ECO:0000250}.
sequence:

opentargets:
mitochondrion [GO:0005739]; aerobic respiration [GO:0009060]; mitochondrial fission [GO:0000266]; mitochondrion organization [GO:0007005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P444-1; Sequence=Displayed; Name=2; IsoId=Q6P444-2; Sequence=VSP_039795, VSP_039796; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 


uniprotID: Q9H400
geneSymbol: LIME1
length: 295
go: ENSG00000203896;
snps: rs1151625
name:
Lck-interacting transmembrane adapter 1 (Lck-interacting membrane protein) (Lck-interacting molecule)

sequence:

opentargets:
B cell receptor complex [GO:0019815]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; protein kinase binding [GO:0019901]; adaptive immune response [GO:0002250]; B cell receptor signaling pathway [GO:0050853]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of MAP kinase activity [GO:0043405]; regulation of NIK/NF-kappaB signaling [GO:1901222]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; regulation of transcription by RNA polymerase II [GO:0006357]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H400-1; Sequence=Displayed; Name=2; IsoId=Q9H400-2; Sequence=VSP_016642; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14610044, ECO:0000269|PubMed:14610046}; Single-pass type III membrane protein {ECO:0000269|PubMed:14610044, ECO:0000269|PubMed:14610046}. Note=Present in lipid rafts. Recruited to the immunological synapse upon conjugation of T-cell with antigen-presenting cell.


uniprotID: Q6MZP7
geneSymbol: LIN54
reactome: R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-156711;R-HSA-539107;R-HSA-69202;R-HSA-69656;
pdb: 5FD3;
name: Protein lin-54 homolog (CXC domain-containing protein 1)
length: 749
go: ENSG00000189308;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; cell cycle [GO:0007049]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6MZP7-1; Sequence=Displayed; Name=2; IsoId=Q6MZP7-2; Sequence=VSP_034274; Note=No experimental confirmation available.; Name=3; IsoId=Q6MZP7-3; Sequence=VSP_034273; Name=4; IsoId=Q6MZP7-4; Sequence=VSP_034272; Note=No experimental confirmation available.; Name=5; IsoId=Q6MZP7-5; Sequence=VSP_034275, VSP_034276; Note=No experimental confirmation available.; 


uniprotID: P48059
geneSymbol: LIMS1
reactome: R-HSA-446353;R-HSA-446388;
pdb: 1G47;1NYP;1U5S;2COR;2D8X;2KBX;3F6Q;4HI8;4HI9;
length: 325
go: ENSG00000169756;
name:
LIM and senescent cell antigen-like-containing domain protein 1 (Particularly interesting new Cys-His protein 1) (PINCH-1) (Renal carcinoma antigen NY-REN-48)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; protein kinase binding [GO:0019901]; zinc ion binding [GO:0008270]; cell aging [GO:0007569]; cell junction assembly [GO:0034329]; cellular response to transforming growth factor beta stimulus [GO:0071560]; establishment of protein localization [GO:0045184]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of gene expression [GO:0010628]; positive regulation of GTPase activity [GO:0043547]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; protein heterooligomerization [GO:0051291]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P48059-1; Sequence=Displayed; Name=2; IsoId=P48059-2; Sequence=VSP_042672; Note=No experimental confirmation available.; Name=3; IsoId=P48059-3; Sequence=VSP_043210; Name=4; IsoId=P48059-4; Sequence=VSP_043211; Name=5; IsoId=P48059-5; Sequence=VSP_043212; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side.


uniprotID: Q06455
geneSymbol: RUNX1T1
pdb: 1WQ6;2DJ8;2H7B;2KNH;2KYG;2OD1;2ODD;2PP4;4JOL;
length: 604
go: ENSG00000079102;
snps: rs1462140811
name:
Protein CBFA2T1 (Cyclin-D-related protein) (Eight twenty one protein) (Protein ETO) (Protein MTG8) (Zinc finger MYND domain-containing protein 2)

sequence:

opentargets:
nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; generation of precursor metabolites and energy [GO:0006091]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=MTG8B; IsoId=Q06455-1; Sequence=Displayed; Name=MTG8A; IsoId=Q06455-2; Sequence=VSP_003327; Name=3; IsoId=Q06455-3; Sequence=VSP_044558; Name=4; IsoId=Q06455-4; Sequence=VSP_045442; Name=MTG8B-2; IsoId=Q06455-5; Sequence=VSP_058512, VSP_058513; Name=MTG8A-2; IsoId=Q06455-6; Sequence=VSP_003327, VSP_058512, VSP_058513; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00440, ECO:0000269|PubMed:10973986}. Note=Colocalizes with ATN1 in discrete nuclear dots.


uniprotID: O75335
geneSymbol: PPFIA4
reactome: R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-388844;
length: 1185
go: ENSG00000143847;
name:
Liprin-alpha-4 (Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-4) (PTPRF-interacting protein alpha-4)

sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; intracellular [GO:0005622]; presynaptic active zone [GO:0048786]; synapse [GO:0045202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=O75335-3; Sequence=Displayed; Name=1; IsoId=O75335-1; Sequence=VSP_053668, VSP_053669; Name=2; IsoId=O75335-2; Sequence=VSP_053668, VSP_053669, VSP_053670; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell surface {ECO:0000250}. Note=Colocalizes with PTPRF at the cell surface. {ECO:0000250}.


uniprotID: P07864
geneSymbol: LDHC
reactome: R-HSA-70268;
length: 332
go: ENSG00000166796;
drug: DB00157;
snps: rs2230150
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
L-lactate dehydrogenase C chain (LDH-C) (EC 1.1.1.27) (Cancer/testis antigen 32) (CT32) (LDH testis subunit) (LDH-X)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; motile cilium [GO:0031514]; nucleus [GO:0005634]; L-lactate dehydrogenase activity [GO:0004459]; ATP biosynthetic process [GO:0006754]; carbohydrate metabolic process [GO:0005975]; flagellated sperm motility [GO:0030317]; lactate biosynthetic process from pyruvate [GO:0019244]; lactate oxidation [GO:0019516]; pyruvate metabolic process [GO:0006090]


uniprotID: Q6ZUX7
geneSymbol: LHFPL2
reactome: R-HSA-114608;
name: LHFPL tetraspan subfamily member 2 protein (Lipoma HMGIC fusion partner-like 2 protein)
length: 228
go: ENSG00000145685;
snps: rs2303654
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; development of primary female sexual characteristics [GO:0046545]; development of primary male sexual characteristics [GO:0046546]; platelet degranulation [GO:0002576]; positive regulation of fertilization [GO:1905516]; single fertilization [GO:0007338]


uniprotID: Q9Y6C9
geneSymbol: MTCH2
name: Mitochondrial carrier homolog 2 (Met-induced mitochondrial protein)
length: 303
go: ENSG00000109919;
snps: rs34072236 rs1064608
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; positive regulation of apoptotic process [GO:0043065]; protein localization to mitochondrion [GO:0070585]


uniprotID: Q9H008
geneSymbol: LHPP
reactome: R-HSA-73817;
pdb: 2X4D;
length: 270
go: ENSG00000107902;
snps: rs6597801
name:
Phospholysine phosphohistidine inorganic pyrophosphate phosphatase (hLHPP) (EC 3.1.3.-) (EC 3.6.1.1)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; inorganic diphosphatase activity [GO:0004427]; magnesium ion binding [GO:0000287]; phosphatase activity [GO:0016791]; protein histidine phosphatase activity [GO:0101006]; protein homodimerization activity [GO:0042803]; dephosphorylation [GO:0016311]; phosphate-containing compound metabolic process [GO:0006796]; protein dephosphorylation [GO:0006470]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H008-1; Sequence=Displayed; Name=2; IsoId=Q9H008-2; Sequence=VSP_041685, VSP_041686; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16430861}. Nucleus {ECO:0000269|PubMed:16430861}.


uniprotID: Q9H903
geneSymbol: MTHFD2L
reactome: R-HSA-196757;
length: 347
go: ENSG00000163738;
name:
Probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 (NADP-dependent methylenetetrahydrofolate dehydrogenase 2-like protein) (MTHFD2-like) [Includes: NAD-dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15); Methenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9)]

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; methenyltetrahydrofolate cyclohydrolase activity [GO:0004477]; methylenetetrahydrofolate dehydrogenase (NAD+) activity [GO:0004487]; methylenetetrahydrofolate dehydrogenase (NADP+) activity [GO:0004488]; 10-formyltetrahydrofolate metabolic process [GO:0009256]; folic acid metabolic process [GO:0046655]; histidine biosynthetic process [GO:0000105]; methionine biosynthetic process [GO:0009086]; purine nucleotide biosynthetic process [GO:0006164]; tetrahydrofolate interconversion [GO:0035999]; tetrahydrofolate metabolic process [GO:0046653]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=4; IsoId=Q9H903-4; Sequence=Displayed; Name=1; IsoId=Q9H903-1; Sequence=VSP_041878; Name=2; IsoId=Q9H903-2; Sequence=VSP_041877; Note=No experimental confirmation available.; Name=3; IsoId=Q9H903-3; Sequence=VSP_041878, VSP_041880, VSP_041881; Note=No experimental confirmation available.; Name=5; IsoId=Q9H903-5; Sequence=VSP_041879; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.


uniprotID: P13995
geneSymbol: MTHFD2
reactome: R-HSA-196757;
pdb: 1ZN4;5TC4;
length: 350
go: ENSG00000065911;
drug: DB00157;DB00116;
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial [Includes: NAD-dependent methylenetetrahydrofolate dehydrogenase (EC 1.5.1.15); Methenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9)]

sequence:

opentargets:
extracellular space [GO:0005615]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; magnesium ion binding [GO:0000287]; methenyltetrahydrofolate cyclohydrolase activity [GO:0004477]; methylenetetrahydrofolate dehydrogenase (NAD+) activity [GO:0004487]; methylenetetrahydrofolate dehydrogenase (NADP+) activity [GO:0004488]; phosphate ion binding [GO:0042301]; folic acid metabolic process [GO:0046655]; tetrahydrofolate interconversion [GO:0035999]; tetrahydrofolate metabolic process [GO:0046653]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13995-1; Sequence=Displayed; Name=2; IsoId=P13995-2; Sequence=VSP_056188; 


uniprotID: P42702
geneSymbol: LIFR
reactome: R-HSA-6788467;R-HSA-8939247;
pdb: 3E0G;
name: Leukemia inhibitory factor receptor (LIF receptor) (LIF-R) (CD antigen CD118)
length: 1097
go: ENSG00000113594;
snps: rs3729734 rs3729740 rs2303743 rs3729744 rs3110234
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ciliary neurotrophic factor receptor binding [GO:0005127]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; growth factor binding [GO:0019838]; leukemia inhibitory factor receptor activity [GO:0004923]; cell surface receptor signaling pathway [GO:0007166]; ciliary neurotrophic factor-mediated signaling pathway [GO:0070120]; cytokine-mediated signaling pathway [GO:0019221]; leukemia inhibitory factor signaling pathway [GO:0048861]; oncostatin-M-mediated signaling pathway [GO:0038165]; positive regulation of cell proliferation [GO:0008284]; regulation of cytokine-mediated signaling pathway [GO:0001959]; response to cytokine [GO:0034097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Membrane; IsoId=P42702-1; Sequence=Displayed; Name=2; Synonyms=Secreted; IsoId=P42702-2; Sequence=Not described; Note=No experimental confirmation available.; 


uniprotID: Q49AM1
geneSymbol: MTERF2
length: 385
go: ENSG00000120832;
snps: rs34238336 rs35305400 rs35548605 rs1043157
name:
Transcription termination factor 2, mitochondrial (Mitochondrial transcription termination factor 2) (mTERF2) (Mitochondrial transcription termination factor-like protein) (mTERF-like) (mTERFL) (mTERF domain-containing protein 3, mitochondrial)

sequence:

opentargets:
mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; regulation of transcription, DNA-templated [GO:0006355]; termination of mitochondrial transcription [GO:0006393]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16226716}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000250|UniProtKB:Q8BKY8}.


uniprotID: Q96E29
geneSymbol: MTERF3
reactome: R-HSA-5205685;
pdb: 3M66;
length: 417
go: ENSG00000156469;
snps: rs7461970
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17662942, ECO:0000269|PubMed:23300484}.
name:
Transcription termination factor 3, mitochondrial (Mitochondrial transcription termination factor 3) (mTERF3) (mTERF domain-containing protein 1, mitochondrial)

sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; double-stranded DNA binding [GO:0003690]; transcription regulatory region DNA binding [GO:0044212]; macroautophagy [GO:0016236]; mitochondrial ribosome assembly [GO:0061668]; mitochondrial transcription [GO:0006390]; mitochondrial translation [GO:0032543]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96E29-1; Sequence=Displayed; Name=2; IsoId=Q96E29-2; Sequence=VSP_021292; Name=3; IsoId=Q96E29-3; Sequence=VSP_053985; Note=No experimental confirmation available.; 


uniprotID: Q14872
geneSymbol: MTF1
reactome: R-HSA-1989781;R-HSA-2426168;R-HSA-5660489;
length: 753
go: ENSG00000188786;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Metal regulatory transcription factor 1 (MRE-binding transcription factor) (Transcription factor MTF-1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cadmium ion [GO:0046686]; response to metal ion [GO:0010038]; response to oxidative stress [GO:0006979]


uniprotID: Q9UPQ0
geneSymbol: LIMCH1
name: LIM and calponin homology domains-containing protein 1
length: 1083
go: ENSG00000064042;
snps: rs11734372
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:28228547}.
sequence:

opentargets:
cytoplasm [GO:0005737]; stress fiber [GO:0001725]; actin binding [GO:0003779]; metal ion binding [GO:0046872]; myosin II head/neck binding [GO:0032034]; actomyosin structure organization [GO:0031032]; negative regulation of cell migration [GO:0030336]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of stress fiber assembly [GO:0051496]; regulation of focal adhesion assembly [GO:0051893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=Q9UPQ0-1; Sequence=Displayed; Name=2; IsoId=Q9UPQ0-2; Sequence=VSP_026550; Name=3; IsoId=Q9UPQ0-3; Sequence=VSP_026541, VSP_026546, VSP_026549; Note=No experimental confirmation available.; Name=4; IsoId=Q9UPQ0-4; Sequence=VSP_026547, VSP_026548, VSP_026549, VSP_026550; Note=No experimental confirmation available.; Name=5; IsoId=Q9UPQ0-5; Sequence=VSP_026541, VSP_026547, VSP_026548, VSP_026549, VSP_026550; Note=No experimental confirmation available.; Name=6; IsoId=Q9UPQ0-6; Sequence=VSP_026542, VSP_026543, VSP_026549, VSP_026550; Name=7; IsoId=Q9UPQ0-7; Sequence=VSP_026541, VSP_026544, VSP_026545; Note=No experimental confirmation available.; Name=8; IsoId=Q9UPQ0-8; Sequence=VSP_026541, VSP_026549, VSP_026550; Name=9; IsoId=Q9UPQ0-9; Sequence=VSP_026542, VSP_026543, VSP_026547, VSP_026549, VSP_026550; Name=10; IsoId=Q9UPQ0-10; Sequence=VSP_026549, VSP_026550; Note=No experimental confirmation available.; 


uniprotID: Q9BT23
geneSymbol: LIMD2
pdb: 2LZU;
name: LIM domain-containing protein 2
length: 127
go: ENSG00000136490;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]
sequence:
MFQAAGAAQATPSHDAKGGGSSTVQRSKSFSLRAQVKETCAACQKTVYPMERLVADKLIFHNSCFCCKHCHTKLSLGSYAALHGEFYCKPHFQQLFKSKGNYDEGFGRKQHKELWAHKEVDPGTKTA

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24590809}. Nucleus {ECO:0000269|PubMed:24590809}. Note=Mainly found in cytoplasm, concentrated in membrane ruffles and in streaks reminiscent of focal adhesion plaques (PubMed:24590809). Also found in nucleus (PubMed:24590809). {ECO:0000269|PubMed:24590809}.


uniprotID: Q86UK5
geneSymbol: EVC2
reactome: R-HSA-5632684;R-HSA-5635838;
name: Limbin (Ellis-van Creveld syndrome protein 2) (EVC2)
length: 1308
go: ENSG00000173040;
snps: rs4689278 rs137852926 rs730469 rs137852928
sequence:

opentargets:
ciliary membrane [GO:0060170]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane protein complex [GO:0098797]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q86UK5-1; Sequence=Displayed; Name=2; IsoId=Q86UK5-2; Sequence=VSP_008848; Name=3; IsoId=Q86UK5-3; Sequence=VSP_008849; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8K1G2}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8K1G2}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q8K1G2}. Nucleus {ECO:0000250|UniProtKB:Q8K1G2}. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:Q8K1G2}.


uniprotID: Q9BYQ8
geneSymbol: KRTAP4-9
reactome: R-HSA-6805567;
length: 210
go: ENSG00000212722;
name:
Keratin-associated protein 4-9 (Keratin-associated protein 4.9) (Ultrahigh sulfur keratin-associated protein 4.9)

sequence:


uniprotID: Q9BZL6
geneSymbol: PRKD2
reactome: R-HSA-1660661;
pdb: 2COA;3BGM;4NNX;4NNY;
name: Serine/threonine-protein kinase D2 (EC 2.7.11.13) (nPKC-D2)
length: 878
go: ENSG00000105287;
snps: rs45455991 rs55716765 rs34325043 rs55933311 rs314665
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein kinase C binding [GO:0005080]; protein serine/threonine kinase activity [GO:0004674]; adaptive immune response [GO:0002250]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; cell death [GO:0008219]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; endothelial tube morphogenesis [GO:0061154]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell adhesion [GO:0045785]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway [GO:0038033]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; positive regulation of histone deacetylase activity [GO:1901727]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of intracellular signal transduction [GO:1902533]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of T cell receptor signaling pathway [GO:0050862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; protein autophosphorylation [GO:0046777]; protein kinase D signaling [GO:0089700]; protein phosphorylation [GO:0006468]; sphingolipid biosynthetic process [GO:0030148]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZL6-1; Sequence=Displayed; Name=2; IsoId=Q9BZL6-2; Sequence=VSP_057279; Note=No experimental confirmation available.; Name=3; IsoId=Q9BZL6-3; Sequence=VSP_059398; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17962809}. Cell membrane {ECO:0000250|UniProtKB:Q15139}. Nucleus {ECO:0000269|PubMed:17962809}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:18262756}. Note=Translocation to the cell membrane is required for kinase activation. Accumulates in the nucleus upon CK1-mediated phosphorylation after activation of G-protein-coupled receptors. Nuclear accumulation is regulated by blocking nuclear export of active PRKD2 rather than by increasing import. {ECO:0000269|PubMed:17962809}.


uniprotID: P19256
geneSymbol: CD58
reactome: R-HSA-202733;R-HSA-6798695;
pdb: 1CCZ;1CI5;1QA9;
name: Lymphocyte function-associated antigen 3 (Ag3) (Surface glycoprotein LFA-3) (CD antigen CD58)
length: 250
go: ENSG00000116815;
snps: rs17426456
location: SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; 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]; secretory granule membrane [GO:0030667]; signaling receptor binding [GO:0005102]; cell-cell adhesion [GO:0098609]; cellular response to interferon-gamma [GO:0071346]; cellular response to tumor necrosis factor [GO:0071356]; heterotypic cell-cell adhesion [GO:0034113]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]; positive regulation of interleukin-8 secretion [GO:2000484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P19256-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P19256-2; Sequence=VSP_002522, VSP_002523; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000269|PubMed:14759258}; Name=3; IsoId=P19256-3; Sequence=VSP_038693; 


uniprotID: Q9BWQ8
geneSymbol: FAIM2
length: 316
go: ENSG00000135472;
name:
Protein lifeguard 2 (Fas apoptotic inhibitory molecule 2) (Neural membrane protein 35) (Transmembrane BAX inhibitor motif-containing protein 2)

sequence:

opentargets:
cell junction [GO:0030054]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; postsynaptic membrane [GO:0045211]; apoptotic process [GO:0006915]; cerebellar granular layer development [GO:0021681]; cerebellar Purkinje cell differentiation [GO:0021702]; cerebellar Purkinje cell layer development [GO:0021680]; cerebellum development [GO:0021549]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of neuron apoptotic process [GO:0043524]; regulation of neuron apoptotic process [GO:0043523]; response to ischemia [GO:0002931]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BWQ8-1; Sequence=Displayed; Name=2; IsoId=Q9BWQ8-2; Sequence=VSP_056989; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Membrane raft {ECO:0000269|PubMed:17635665}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.


uniprotID: Q969X1
geneSymbol: TMBIM1
reactome: R-HSA-6798695;
length: 311
go: ENSG00000135926;
snps: rs2292553
name:
Protein lifeguard 3 (Protein RECS1 homolog) (Transmembrane BAX inhibitor motif-containing protein 1)

sequence:

opentargets:
endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; death receptor binding [GO:0005123]; negative regulation of catalytic activity [GO:0043086]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of Fas signaling pathway [GO:1902045]; negative regulation of protein localization to plasma membrane [GO:1903077]; neutrophil degranulation [GO:0043312]; positive regulation of blood vessel remodeling [GO:2000504]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Lysosome membrane {ECO:0000269|PubMed:16607040}. Endosome membrane {ECO:0000269|PubMed:16607040}.


uniprotID: O75473
geneSymbol: LGR5
reactome: R-HSA-4641263;
pdb: 4BSR;4BSS;4BST;4BSU;4KNG;4UFR;4UFS;
length: 907
go: ENSG00000139292;
snps: rs12303775 rs17109924
name:
Leucine-rich repeat-containing G-protein coupled receptor 5 (G-protein coupled receptor 49) (G-protein coupled receptor 67) (G-protein coupled receptor HG38)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; protein-hormone receptor activity [GO:0016500]; transmembrane signaling receptor activity [GO:0004888]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; epithelial cell proliferation involved in renal tubule morphogenesis [GO:2001013]; G protein-coupled receptor signaling pathway [GO:0007186]; hair follicle development [GO:0001942]; hormone-mediated signaling pathway [GO:0009755]; inner ear development [GO:0048839]; oocyte differentiation [GO:0009994]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; regulation of cell proliferation [GO:0042127]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75473-1; Sequence=Displayed; Name=2; IsoId=O75473-2; Sequence=VSP_037746; Name=3; IsoId=O75473-3; Sequence=VSP_054782; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Rapidly and constitutively internalized to the trans-Golgi network at steady state. Internalization to the trans-Golgi network may be the result of phosphorylation at Ser-861 and Ser-864; however, the phosphorylation event has not been proven (PubMed:23439653). {ECO:0000269|PubMed:23439653}.


uniprotID: Q96DY7
geneSymbol: MTBP
name: Mdm2-binding protein (hMTBP)
length: 904
go: ENSG00000172167;
sequence:

opentargets:
chromatin [GO:0000785]; kinetochore [GO:0000776]; cell cycle arrest [GO:0007050]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitotic nuclear division [GO:0045839]; protein localization to kinetochore [GO:0034501]; regulation of protein ubiquitination [GO:0031396]; traversing start control point of mitotic cell cycle [GO:0007089]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DY7-1; Sequence=Displayed; Name=2; IsoId=Q96DY7-3; Sequence=VSP_056108, VSP_056109; Note=No experimental confirmation available.; 


uniprotID: Q04760
geneSymbol: GLO1
reactome: R-HSA-70268;
pdb: 1BH5;1FRO;1QIN;1QIP;3VW9;3W0T;3W0U;
length: 184
go: ENSG00000124767;
drug: DB03345;DB00143;DB00328;DB03330;DB03602;DB04132;DB03130;
snps: rs17855424 rs4746
name:
Lactoylglutathione lyase (EC 4.4.1.5) (Aldoketomutase) (Glyoxalase I) (Glx I) (Ketone-aldehyde mutase) (Methylglyoxalase) (S-D-lactoylglutathione methylglyoxal lyase)

sequence:
MAEPQPPSGGLTDEAALSCCSDADPSTKDFLLQQTMLRVKDPKKSLDFYTRVLGMTLIQKCDFPIMKFSLYFLAYEDKNDIPKEKDEKIAWALSRKATLELTHNWGTEDDETQSYHNGNSDPRGFGHIGIAVPDVYSACKRFEELGVKFVKKPDDGKMKGLAFIQDPDGYWIEILNPNKMATLM

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; lactoylglutathione lyase activity [GO:0004462]; zinc ion binding [GO:0008270]; carbohydrate metabolic process [GO:0005975]; glutathione metabolic process [GO:0006749]; methylglyoxal metabolic process [GO:0009438]; negative regulation of apoptotic process [GO:0043066]; osteoclast differentiation [GO:0030316]; pyruvate metabolic process [GO:0006090]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q04760-1; Sequence=Displayed; Name=2; IsoId=Q04760-2; Sequence=VSP_041632; Note=No experimental confirmation available.; 


uniprotID: Q86UP9
geneSymbol: LHFPL3
name: LHFPL tetraspan subfamily member 3 protein (Lipoma HMGIC fusion partner-like 3 protein)
length: 236
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q7Z7J7
geneSymbol: LHFPL4
length: 247
go: ENSG00000156959;
name:
LHFPL tetraspan subfamily member 4 protein (GABAA receptor regulatory Lhfpl4) (Lipoma HMGIC fusion partner-like 4 protein)

sequence:

opentargets:
inhibitory synapse [GO:0060077]; integral component of membrane [GO:0016021]; postsynaptic membrane [GO:0045211]; GABA receptor binding [GO:0050811]; gamma-aminobutyric acid receptor clustering [GO:0097112]; regulation of inhibitory synapse assembly [GO:1905702]

location:
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000250|UniProtKB:Q7TSY2}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q5U4E0}; Multi-pass membrane protein {ECO:0000255}. Note=Specifically localizes to inhibitory postsynaptic sites (By similarity). Colocalizes with GPHN, GABRG2 and NLGN2 at inhibitory postsynaptic sites (By similarity). {ECO:0000250|UniProtKB:Q5U4E0, ECO:0000250|UniProtKB:Q7TSY2}.


uniprotID: Q9Y693
geneSymbol: LHFPL6
name: LHFPL tetraspan subfamily member 6 protein (Lipoma HMGIC fusion partner)
length: 200
go: ENSG00000183722;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y4B5
geneSymbol: MTCL1
length: 1905
go: ENSG00000168502;
snps: rs35739383 rs1965665 rs3744979 rs12386117 rs11874468
name:
Microtubule cross-linking factor 1 (Coiled-coil domain-containing protein 165) (PAR-1-interacting protein) (SOGA family member 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; apicolateral plasma membrane [GO:0016327]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular space [GO:0005615]; lateral plasma membrane [GO:0016328]; microtubule bundle [GO:0097427]; midbody [GO:0030496]; spindle pole [GO:0000922]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; microtubule bundle formation [GO:0001578]; positive regulation of microtubule motor activity [GO:2000576]; positive regulation of protein targeting to membrane [GO:0090314]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y4B5-1; Sequence=Displayed; Name=2; IsoId=Q9Y4B5-2; Sequence=VSP_023550; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y4B5-3; Sequence=VSP_023550, VSP_023551; Name=4; IsoId=Q9Y4B5-4; Sequence=VSP_023549, VSP_023552, VSP_023553, VSP_023554; 

location:
SUBCELLULAR LOCATION: Lateral cell membrane {ECO:0000250}. Apical cell membrane {ECO:0000250}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:23902687}. Midbody {ECO:0000269|PubMed:23902687}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23902687}. Note=Colocalized with microtubules at the base of cilia. Gradually accumulates on the apicobasal microtubule bundles during epithelial cell polarization (By similarity). Colocalized with the apicobasal microtubule bundles running beneath the lateral membrane. Colocalized with microtubule bundles in the spindle pole in mitotic cells and in the midbodies at the end of cytokinesis. {ECO:0000250}.


uniprotID: P56278
geneSymbol: MTCP1
pdb: 1A1X;1QTT;1QTU;
name: Protein p13 MTCP-1 (p13MTCP1) (Mature T-cell proliferation-1 type B1) (MTCP-1 type B1)
length: 107
go: ENSG00000214827;
sequence:
MAGEDVGAPPDHLWVHQEGIYRDEYQRTWVAVVEEETSFLRARVQQIQVPLGDAARPSHLLTSQLPLMWQLYPEERYMDNNSRLWQIQHHLMVRGVQELLLKLLPDD

opentargets:
protein-containing complex [GO:0032991]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activator activity [GO:0043539]; cell proliferation [GO:0008283]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein serine/threonine kinase activity [GO:0071902]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=Long, Type B1, p13 MTCP1; IsoId=P56278-1; Sequence=Displayed; Note=Shares a non-coding 5' exon with isoform 1 which is spliced to a different set of 3' exons encoding an unrelated protein.; Name=1; Synonyms=Short, Type A, p8 MTCP1; IsoId=P56277-1; Sequence=External; Note=Shares a non-coding 5' exon with isoform 2 which is spliced to a different set of 3' exons encoding an unrelated protein.; 


uniprotID: P50458
geneSymbol: LHX2
reactome: R-HSA-9010553;
name: LIM/homeobox protein Lhx2 (Homeobox protein LH-2) (LIM homeobox protein 2)
length: 406
go: ENSG00000106689;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; axon extension [GO:0048675]; axon guidance [GO:0007411]; cerebral cortex development [GO:0021987]; dorsal/ventral pattern formation [GO:0009953]; hair follicle development [GO:0001942]; maintenance of epithelial cell apical/basal polarity [GO:0045199]; mesoderm development [GO:0007498]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of neurogenesis [GO:0050768]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; neural tube closure [GO:0001843]; olfactory bulb development [GO:0021772]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of transcription, DNA-templated [GO:0045893]; retina development in camera-type eye [GO:0060041]; telencephalon regionalization [GO:0021978]


uniprotID: Q96H12
geneSymbol: MSANTD3
name: Myb/SANT-like DNA-binding domain-containing protein 3
length: 275
go: ENSG00000066697;
opentargets: identical protein binding [GO:0042802]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96H12-1; Sequence=Displayed; Name=2; IsoId=Q96H12-2; Sequence=VSP_053346, VSP_053347; 


uniprotID: P15559
geneSymbol: NQO1
reactome: R-HSA-350562;
pdb: 1D4A;1DXO;1GG5;1H66;1H69;1KBO;1KBQ;1QBG;2F1O;3JSX;4CET;4CF6;5A4K;5EA2;5EAI;5FUQ;
length: 274
go: ENSG00000181019;
drug: DB00958;DB02633;DB00515;DB00266;DB00997;DB01927;DB03147;DB00170;DB00526;DB00163;
snps: rs1131341 rs1800566 rs34447156
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
NAD(P)H dehydrogenase [quinone] 1 (EC 1.6.5.2) (Azoreductase) (DT-diaphorase) (DTD) (Menadione reductase) (NAD(P)H:quinone oxidoreductase 1) (Phylloquinone reductase) (Quinone reductase 1) (QR1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; neuronal cell body [GO:0043025]; cytochrome-b5 reductase activity, acting on NAD(P)H [GO:0004128]; electron transfer activity [GO:0009055]; identical protein binding [GO:0042802]; NAD(P)H dehydrogenase (quinone) activity [GO:0003955]; oxidoreductase activity [GO:0016491]; RNA binding [GO:0003723]; superoxide dismutase activity [GO:0004784]; aging [GO:0007568]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to metal ion [GO:0071248]; negative regulation of apoptotic process [GO:0043066]; negative regulation of catalytic activity [GO:0043086]; nitric oxide biosynthetic process [GO:0006809]; positive regulation of neuron apoptotic process [GO:0043525]; regulation of cellular amino acid metabolic process [GO:0006521]; response to electrical stimulus [GO:0051602]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to hydrogen sulfide [GO:1904880]; response to nitrogen compound [GO:1901698]; response to nutrient [GO:0007584]; response to toxic substance [GO:0009636]; synaptic transmission, cholinergic [GO:0007271]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P15559-1; Sequence=Displayed; Name=2; IsoId=P15559-2; Sequence=VSP_042716; Note=No experimental confirmation available.; Name=3; IsoId=P15559-3; Sequence=VSP_044446; Note=No experimental confirmation available.; 


uniprotID: P16083
geneSymbol: NQO2
reactome: R-HSA-211945;
length: 231
go: ENSG00000124588;
drug: DB04253;DB06695;DB03147;DB01065;DB00170;DB08190;DB00157;DB01087;DB02709;
snps: rs28383623 rs17136117 rs1143684 rs17300141 rs28383651
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1QR2;1SG0;1XI2;1ZX1;2BZS;2QMY;2QMZ;2QR2;2QWX;2QX4;2QX6;2QX8;2QX9;3FW1;3G5M;3GAM;3NFR;3NHF;3NHJ;3NHK;3NHL;3NHP;3NHR;3NHS;3NHU;3NHW;3NHY;3O2N;3O73;3OVM;3OWH;3OWX;3OX1;3OX2;3OX3;3TE7;3TEM;3TZB;3UXE;3UXH;4FGJ;4FGK;4FGL;4GQI;4GR9;4QOD;4QOE;4QOF;4QOG;4QOH;4QOI;4QOJ;4U7F;4U7G;4U7H;4XDG;4XDH;4ZVK;4ZVL;4ZVM;4ZVN;5BUC;5LBT;5LBU;5LBW;5LBY;5LBZ;

name:
Ribosyldihydronicotinamide dehydrogenase [quinone] (EC 1.10.5.1) (NRH dehydrogenase [quinone] 2) (NRH:quinone oxidoreductase 2) (Quinone reductase 2) (QR2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; chloride ion binding [GO:0031404]; dihydronicotinamide riboside quinone reductase activity [GO:0001512]; electron transfer activity [GO:0009055]; FAD binding [GO:0071949]; melatonin binding [GO:1904408]; NAD(P)H dehydrogenase (quinone) activity [GO:0003955]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on other nitrogenous compounds as donors [GO:0016661]; protein homodimerization activity [GO:0042803]; resveratrol binding [GO:1905594]; zinc ion binding [GO:0008270]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q96NY9
geneSymbol: MUS81
reactome: R-HSA-5693568;R-HSA-6783310;
pdb: 2MC3;2ZIX;4P0P;4P0Q;4P0R;4P0S;
name: Crossover junction endonuclease MUS81 (EC 3.1.22.-)
length: 551
go: ENSG00000172732;
snps: rs13817 rs34381357 rs545500 rs2298447 rs34891773 rs765593
sequence:

opentargets:
Holliday junction resolvase complex [GO:0048476]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 3'-flap endonuclease activity [GO:0048257]; DNA binding [GO:0003677]; endodeoxyribonuclease activity [GO:0004520]; metal ion binding [GO:0046872]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA repair [GO:0006281]; double-strand break repair via break-induced replication [GO:0000727]; interstrand cross-link repair [GO:0036297]; intra-S DNA damage checkpoint [GO:0031573]; resolution of meiotic recombination intermediates [GO:0000712]; response to intra-S DNA damage checkpoint signaling [GO:0072429]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11741546, ECO:0000269|PubMed:14617801, ECO:0000269|PubMed:14638871, ECO:0000269|PubMed:15805243}. Note=Recruited to foci of DNA damage in S-phase cells.


uniprotID: Q14995
geneSymbol: NR1D2
reactome: R-HSA-383280;
pdb: 2V0V;2V7C;3CQV;4N73;
length: 579
snps: rs17854365 rs17857305 rs17857306 rs4858097
name:
Nuclear receptor subfamily 1 group D member 2 (Orphan nuclear hormone receptor BD73) (Rev-erb alpha-related receptor) (RVR) (Rev-erb-beta) (V-erbA-related protein 1-related) (EAR-1R)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; 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 sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; energy homeostasis [GO:0097009]; hormone-mediated signaling pathway [GO:0009755]; lipid homeostasis [GO:0055088]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of circadian rhythm [GO:0042752]; regulation of inflammatory response [GO:0050727]; regulation of lipid metabolic process [GO:0019216]; regulation of skeletal muscle cell differentiation [GO:2001014]; regulation of transcription, DNA-templated [GO:0006355]; response to lipid [GO:0033993]; rhythmic process [GO:0048511]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:17892483, ECO:0000269|PubMed:17996965}.


uniprotID: P55055
geneSymbol: NR1H2
reactome: R-HSA-1989781;R-HSA-383280;R-HSA-4090294;R-HSA-8866427;
pdb: 1P8D;1PQ6;1PQ9;1PQC;1UPV;1UPW;3KFC;3L0E;4DK7;4DK8;4NQA;4RAK;5HJP;5I4V;5JY3;5KYA;5KYJ;
length: 460
go: ENSG00000131408;
drug: DB03848;
snps: rs41379547
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}.
name:
Oxysterols receptor LXR-beta (Liver X receptor beta) (Nuclear receptor NER) (Nuclear receptor subfamily 1 group H member 2) (Ubiquitously-expressed nuclear receptor)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; apolipoprotein A-I receptor binding [GO:0034191]; ATPase binding [GO:0051117]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; retinoid X receptor binding [GO:0046965]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; cellular lipid metabolic process [GO:0044255]; cellular response to lipopolysaccharide [GO:0071222]; cholesterol homeostasis [GO:0042632]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; multicellular organism development [GO:0007275]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; negative regulation of lipid transport [GO:0032369]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; negative regulation of pinocytosis [GO:0048550]; negative regulation of proteolysis [GO:0045861]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of cholesterol transport [GO:0032376]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of high-density lipoprotein particle assembly [GO:0090108]; positive regulation of lipid storage [GO:0010884]; positive regulation of lipoprotein lipase activity [GO:0051006]; positive regulation of pancreatic juice secretion [GO:0090187]; positive regulation of secretion of lysosomal enzymes [GO:0090340]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of triglyceride biosynthetic process [GO:0010867]; retinoic acid receptor signaling pathway [GO:0048384]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55055-1; Sequence=Displayed; Name=2; IsoId=P55055-2; Sequence=VSP_053789; Note=No experimental confirmation.; 


uniprotID: Q86VF7
geneSymbol: NRAP
name: Nebulin-related-anchoring protein (N-RAP)
length: 1730
go: ENSG00000197893;
sequence:

opentargets:
fascia adherens [GO:0005916]; muscle tendon junction [GO:0005927]; Z disc [GO:0030018]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; metal ion binding [GO:0046872]; muscle alpha-actinin binding [GO:0051371]; cardiac muscle thin filament assembly [GO:0071691]

snps:
rs34700024 rs35049661 rs2154028 rs2185913 rs2275799 rs3121478 rs3127106 rs11196400 rs3189030 rs2270182 rs2286734 rs2286735 rs868738 rs34523503 rs1539587 rs10749138 rs11196389 rs1885434 rs11575798 rs11575797 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:12789664}; IsoId=Q86VF7-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15164054}; IsoId=Q86VF7-2; Sequence=VSP_052166; Note=Gene prediction based on EST data. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15164054}; IsoId=Q86VF7-3; Sequence=VSP_052165, VSP_052166; Note=Gene prediction based on EST data. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:12789664, ECO:0000269|Ref.2}; IsoId=Q86VF7-4; Sequence=VSP_052165; 

location:
SUBCELLULAR LOCATION: Note=Localized at the myotendinous junction in skeletal muscle and at the intercalated disk in cardiac muscle. {ECO:0000269|PubMed:12789664}.


uniprotID: Q7Z6K4
geneSymbol: NRARP
name: Notch-regulated ankyrin repeat-containing protein
length: 114
go: ENSG00000198435;
sequence:
MSQAELSTCSAPQTQRIFQEAVRKGNTQELQSLLQNMTNCEFNVNSFGPEGQTALHQSVIDGNLELVKLLVKFGADIRLANRDGWSALHIAAFGGHQDIVLYLITKAKYAASGR

opentargets:
blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; branching involved in blood vessel morphogenesis [GO:0001569]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of Notch signaling pathway involved in somitogenesis [GO:1902367]; negative regulation of T cell differentiation [GO:0045581]; negative regulation of transcription by RNA polymerase II [GO:0000122]; Notch signaling pathway [GO:0007219]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of endothelial cell proliferation [GO:0001938]; somite rostral/caudal axis specification [GO:0032525]


uniprotID: Q96F24
geneSymbol: NRBF2
reactome: R-HSA-383280;
pdb: 4ZEY;
name: Nuclear receptor-binding factor 2 (NRBF-2) (Comodulator of PPAR and RXR)
length: 287
go: ENSG00000148572;
sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; nucleoplasm [GO:0005654]; phosphatidylinositol 3-kinase complex, class III [GO:0035032]; autophagy [GO:0006914]; regulation of lipid kinase activity [GO:0043550]; response to endoplasmic reticulum stress [GO:0034976]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=COPR2, Comodulator of PPAR and RXR 2; IsoId=Q96F24-1; Sequence=Displayed; Name=2; Synonyms=COPR1, Comodulator of PPAR and RXR 1; IsoId=Q96F24-2; Sequence=VSP_018488; Name=3; IsoId=Q96F24-3; Sequence=VSP_054555; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9QYK3}. Cytoplasm {ECO:0000250|UniProtKB:Q9QYK3}. Cytoplasmic vesicle {ECO:0000269|PubMed:25086043}. Cytoplasmic vesicle, autophagosome {ECO:0000305}.


uniprotID: Q9NSY0
geneSymbol: NRBP2
name: Nuclear receptor-binding protein 2 (Transformation-related gene 16 protein) (TRG-16)
length: 501
go: ENSG00000185189;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; endomembrane system [GO:0012505]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular signal transduction [GO:0035556]; negative regulation of macroautophagy [GO:0016242]; negative regulation of neuron apoptotic process [GO:0043524]; neuron differentiation [GO:0030182]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NSY0-3; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15498874, ECO:0000269|Ref.1}; IsoId=Q9NSY0-2; Sequence=VSP_039308, VSP_039309; Note=No experimental confirmation available.; Name=3; IsoId=Q9NSY0-4; Sequence=VSP_039308, VSP_039309, VSP_039310; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q9NSY0-5; Sequence=VSP_039311, VSP_039312, VSP_039313; 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: Q9UHY1
geneSymbol: NRBP1
reactome: R-HSA-383280;
name: Nuclear receptor-binding protein
length: 535
go: ENSG00000115216;
snps: rs56004639 rs753734841 rs34260196
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; endomembrane system [GO:0012505]; lamellipodium [GO:0030027]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000269|PubMed:11956649}. Endomembrane system {ECO:0000269|PubMed:11956649}. Cell projection, lamellipodium {ECO:0000269|PubMed:11956649}. Note=Colocalizes with activated RAC3 to endomembranes and at the cell periphery in lamellipodia.


uniprotID: Q92823
geneSymbol: NRCAM
reactome: R-HSA-445095;R-HSA-447038;R-HSA-447043;
pdb: 1UEN;1UEY;
length: 1304
go: ENSG00000091129;
snps: rs6958498
name:
Neuronal cell adhesion molecule (Nr-CAM) (Neuronal surface protein Bravo) (hBravo) (NgCAM-related cell adhesion molecule) (Ng-CAM-related)

sequence:

opentargets:
axon initial segment [GO:0043194]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; ankyrin binding [GO:0030506]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; angiogenesis [GO:0001525]; axonal fasciculation [GO:0007413]; axonogenesis [GO:0007409]; cell-cell adhesion [GO:0098609]; central nervous system development [GO:0007417]; clustering of voltage-gated sodium channels [GO:0045162]; neuron migration [GO:0001764]; neuronal action potential propagation [GO:0019227]; positive regulation of neuron differentiation [GO:0045666]; protein localization [GO:0008104]; regulation of axon extension [GO:0030516]; regulation of postsynapse organization [GO:0099175]; retinal ganglion cell axon guidance [GO:0031290]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q92823-1; Sequence=Displayed; Name=2; IsoId=Q92823-2; Sequence=VSP_007841, VSP_007842; Name=3; IsoId=Q92823-3; Sequence=VSP_007838, VSP_007840; Note=No experimental confirmation available.; Name=4; IsoId=Q92823-4; Sequence=VSP_007837, VSP_007839, VSP_007840; Note=No experimental confirmation available.; Name=5; IsoId=Q92823-5; Sequence=VSP_007843; Name=6; IsoId=Q92823-6; Sequence=VSP_007838, VSP_045040; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q810U4}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q810U4}. Cell projection, axon {ECO:0000250|UniProtKB:Q810U4}. Secreted {ECO:0000250|UniProtKB:Q810U4}. Note=Detected at nodes of Ranvier. {ECO:0000250|UniProtKB:Q810U4}.


uniprotID: O43847
geneSymbol: NRDC
length: 1151
go: ENSG00000078618;
snps: rs34957144
name:
Nardilysin (EC 3.4.24.61) (N-arginine dibasic convertase) (NRD convertase) (NRD-C) (Nardilysin convertase)

sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; epidermal growth factor binding [GO:0048408]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; negative regulation of cold-induced thermogenesis [GO:0120163]; neuromuscular junction development [GO:0007528]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; proteolysis [GO:0006508]; regulation of endopeptidase activity [GO:0052548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=NRD1; IsoId=O43847-1; Sequence=Displayed; Name=2; Synonyms=NRD2; IsoId=O43847-2; Sequence=VSP_007114; 


uniprotID: Q9H7Z3
geneSymbol: NRDE2
name: Protein NRDE2 homolog
length: 1164
go: ENSG00000119720;
opentargets: chromatin silencing by small RNA [GO:0031048]; RNA interference [GO:0016246]
snps: rs7140914 rs59039343 rs3737035
sequence:


uniprotID: Q9HD23
geneSymbol: MRS2
reactome: R-HSA-5223345;
name: Magnesium transporter MRS2 homolog, mitochondrial (MRS2-like protein)
length: 443
go: ENSG00000124532;
snps: rs2295651 rs35261004
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; magnesium ion transmembrane transporter activity [GO:0015095]; magnesium ion transport [GO:0015693]; mitochondrial magnesium ion transmembrane transport [GO:0045016]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HD23-1; Sequence=Displayed; Name=2; IsoId=Q9HD23-2; Sequence=VSP_016209, VSP_016210; Name=3; IsoId=Q9HD23-3; Sequence=VSP_016207, VSP_016208; Note=No experimental confirmation available.; Name=4; IsoId=Q9HD23-4; Sequence=VSP_055287; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11401429, ECO:0000305|PubMed:18384665}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P20585
geneSymbol: MSH3
reactome: R-HSA-5358606;R-HSA-5632927;R-HSA-5632928;
pdb: 3THW;3THX;3THY;3THZ;
length: 1137
go: ENSG00000113318;
snps: rs1650697 rs1805354 rs10067975 rs184967 rs26279 rs1805131
name:
DNA mismatch repair protein Msh3 (hMSH3) (Divergent upstream protein) (DUP) (Mismatch repair protein 1) (MRP1)

sequence:

opentargets:
membrane [GO:0016020]; mismatch repair complex [GO:0032300]; MutSbeta complex [GO:0032302]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; centromeric DNA binding [GO:0019237]; damaged DNA binding [GO:0003684]; DNA-dependent ATPase activity [GO:0008094]; double-strand/single-strand DNA junction binding [GO:0000406]; enzyme binding [GO:0019899]; heteroduplex DNA loop binding [GO:0000404]; oxidized purine DNA binding [GO:0032357]; Y-form DNA binding [GO:0000403]; DNA repair [GO:0006281]; maintenance of DNA repeat elements [GO:0043570]; meiotic mismatch repair [GO:0000710]; mismatch repair [GO:0006298]; mitotic recombination [GO:0006312]; negative regulation of DNA recombination [GO:0045910]; positive regulation of helicase activity [GO:0051096]; reciprocal meiotic recombination [GO:0007131]; removal of nonhomologous ends [GO:0000735]; replication fork arrest [GO:0043111]


uniprotID: Q9Y3D2
geneSymbol: MSRB2
reactome: R-HSA-5676934;
name: Methionine-R-sulfoxide reductase B2, mitochondrial (MsrB2) (EC 1.8.4.12) (EC 1.8.4.14)
length: 182
go: ENSG00000148450;
drug: DB00134;
snps: rs2296466
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18424444}.
sequence:
MARLLWLLRGLTLGTAPRRAVRGQAGGGGPGTGPGLGEAGSLATCELPLAKSEWQKKLTPEQFYVTREKGTEPPFSGIYLNNKEAGMYHCVCCDSPLFSSEKKYCSGTGWPSFSEAHGTSGSDESHTGILRRLDTSLGSARTEVVCKQCEAHLGHVFPDGPGPNGQRFCINSVALKFKPRKH

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; actin binding [GO:0003779]; DNA-binding transcription factor activity [GO:0003700]; L-methionine-(R)-S-oxide reductase activity [GO:0033745]; peptide-methionine (R)-S-oxide reductase activity [GO:0033743]; zinc ion binding [GO:0008270]; actin filament polymerization [GO:0030041]; cellular response to oxidative stress [GO:0034599]; protein repair [GO:0030091]


uniprotID: Q9BYG7
geneSymbol: MRO
name: Protein maestro (Male-specific transcription in the developing reproductive organs) (Protein B29)
length: 248
go: ENSG00000134042;
opentargets: nucleolus [GO:0005730]
snps: rs4940019 rs2849233
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BYG7-1; Sequence=Displayed; Name=2; IsoId=Q9BYG7-2; Sequence=VSP_045711, VSP_045712; Note=No experimental confirmation available.; Name=3; IsoId=Q9BYG7-3; Sequence=Not described; Name=4; IsoId=Q9BYG7-4; Sequence=Not described; Name=5; IsoId=Q9BYG7-5; Sequence=VSP_045711; Note=No experimental confirmation available.; Name=6; IsoId=Q9BYG7-6; Sequence=VSP_045712; 


uniprotID: A6NJ64
name: Putative NPIP-like protein LOC729978
length: 397
opentargets: nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: P51843
geneSymbol: NR0B1
reactome: R-HSA-383280;
pdb: 4RWV;
length: 470
go: ENSG00000169297;
drug: DB01234;DB00755;
snps: rs104894888 rs28935482 rs104894907 rs104894900 rs104894899 rs104894896 rs104894897 rs28935481
name:
Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; polysomal ribosome [GO:0042788]; AF-2 domain binding [GO:0050682]; DNA binding [GO:0003677]; DNA hairpin binding [GO:0032448]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; steroid hormone receptor binding [GO:0035258]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; adrenal gland development [GO:0030325]; gonad development [GO:0008406]; hypothalamus development [GO:0021854]; Leydig cell differentiation [GO:0033327]; male gonad development [GO:0008584]; male sex determination [GO:0030238]; negative regulation of cell differentiation [GO:0045596]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of intracellular steroid hormone receptor signaling pathway [GO:0033144]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; pituitary gland development [GO:0021983]; protein localization [GO:0008104]; response to immobilization stress [GO:0035902]; Sertoli cell differentiation [GO:0060008]; spermatogenesis [GO:0007283]; steroid biosynthetic process [GO:0006694]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51843-1; Sequence=Displayed; Name=2; Synonyms=NR0B1A; IsoId=P51843-2; Sequence=VSP_023557, VSP_023558; Note=More abundant than isoform 1 in all tissues tested except testis where they are nearly equal.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16709599}. Cytoplasm {ECO:0000269|PubMed:16709599}. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.


uniprotID: Q15466
geneSymbol: NR0B2
reactome: R-HSA-383280;
pdb: 1YUC;2Q3Y;2Z4J;4DOR;4ONI;5UFS;
length: 257
go: ENSG00000131910;
snps: rs777291973 rs6659176 rs202154574 rs74315350 rs199976415 rs200475847
name:
Nuclear receptor subfamily 0 group B member 2 (Orphan nuclear receptor SHP) (Small heterodimer partner)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; peroxisome proliferator activated receptor binding [GO:0042975]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; retinoid X receptor binding [GO:0046965]; steroid hormone receptor activity [GO:0003707]; thyroid hormone receptor binding [GO:0046966]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; animal organ regeneration [GO:0031100]; cholesterol metabolic process [GO:0008203]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; Notch signaling pathway [GO:0007219]; positive regulation of gene expression [GO:0010628]; positive regulation of insulin secretion [GO:0032024]; response to glucose [GO:0009749]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14752053}. Cytoplasm {ECO:0000269|PubMed:14752053}. Note=Colocalizes with NEUROD1 in the nucleus.


uniprotID: P20393
geneSymbol: NR1D1
reactome: R-HSA-1368071;R-HSA-1989781;R-HSA-2151201;R-HSA-383280;R-HSA-400253;
pdb: 1A6Y;1EF6;1GA5;1HLZ;3N00;
name: Nuclear receptor subfamily 1 group D member 1 (Rev-erbA-alpha) (V-erbA-related protein 1) (EAR-1)
length: 614
go: ENSG00000126368;
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; heme binding [GO:0020037]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; 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]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription corepressor activity [GO:0003714]; transcription corepressor binding [GO:0001222]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; cellular response to lipopolysaccharide [GO:0071222]; cholesterol homeostasis [GO:0042632]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; circadian temperature homeostasis [GO:0060086]; glycogen biosynthetic process [GO:0005978]; hormone-mediated signaling pathway [GO:0009755]; multicellular organism development [GO:0007275]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of receptor biosynthetic process [GO:0010871]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of bile acid biosynthetic process [GO:0070859]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasomal protein catabolic process [GO:0010498]; regulation of circadian rhythm [GO:0042752]; regulation of fat cell differentiation [GO:0045598]; regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter [GO:0035947]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; regulation of lipid metabolic process [GO:0019216]; regulation of type B pancreatic cell proliferation [GO:0061469]; response to leptin [GO:0044321]; response to lipid [GO:0033993]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Localizes to the cytoplasm, dendrites and dendritic spine in the presence of OPHN1. {ECO:0000250}.


uniprotID: Q13133
geneSymbol: NR1H3
reactome: R-HSA-1989781;R-HSA-383280;R-HSA-4090294;R-HSA-8866427;
pdb: 1UHL;3IPQ;3IPS;3IPU;5AVI;5AVL;5HJS;
length: 447
go: ENSG00000025434;
snps: rs41481445
name:
Oxysterols receptor LXR-alpha (Liver X receptor alpha) (Nuclear receptor subfamily 1 group H member 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; receptor complex [GO:0043235]; RNA polymerase II transcription factor complex [GO:0090575]; cholesterol binding [GO:0015485]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; sterol response element binding [GO:0032810]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; apoptotic cell clearance [GO:0043277]; cell differentiation [GO:0030154]; cellular response to lipopolysaccharide [GO:0071222]; cholesterol homeostasis [GO:0042632]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; multicellular organism development [GO:0007275]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; negative regulation of lipid transport [GO:0032369]; negative regulation of macrophage activation [GO:0043031]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; negative regulation of pancreatic juice secretion [GO:0090188]; negative regulation of pinocytosis [GO:0048550]; negative regulation of secretion of lysosomal enzymes [GO:0090341]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of cholesterol transport [GO:0032376]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of lipoprotein lipase activity [GO:0051006]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of triglyceride biosynthetic process [GO:0010867]; regulation of circadian rhythm [GO:0042752]; regulation of nuclear receptor transcription coactivator activity [GO:2000325]; response to progesterone [GO:0032570]; sterol homeostasis [GO:0055092]; transcription initiation from RNA polymerase II promoter [GO:0006367]; triglyceride homeostasis [GO:0070328]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13133-1; Sequence=Displayed; Name=2; IsoId=Q13133-2; Sequence=VSP_003664; Note=No experimental confirmation available.; Name=3; IsoId=Q13133-3; Sequence=VSP_044960; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:25661920}. Cytoplasm {ECO:0000250|UniProtKB:Q9Z0Y9}.


uniprotID: Q96RI1
geneSymbol: NR1H4
length: 486
go: ENSG00000012504;
drug: DB06777;DB02545;DB05990;
reactome:
R-HSA-159418;R-HSA-192105;R-HSA-193368;R-HSA-193807;R-HSA-1989781;R-HSA-211976;R-HSA-383280;R-HSA-4090294;

pdb:
1OSH;1OSK;3BEJ;3DCT;3DCU;3FLI;3FXV;3GD2;3HC5;3HC6;3L1B;3OKH;3OKI;3OLF;3OMK;3OMM;3OOF;3OOK;3P88;3P89;3RUT;3RUU;3RVF;4OIV;4QE6;4QE8;4WVD;5IAW;5ICK;5Q0I;5Q0J;5Q0K;5Q0L;5Q0M;5Q0N;5Q0O;5Q0P;5Q0Q;5Q0R;5Q0S;5Q0T;5Q0U;5Q0V;5Q0W;5Q0X;5Q0Y;5Q0Z;5Q10;5Q11;5Q12;5Q13;5Q14;5Q15;5Q16;5Q17;5Q18;5Q19;5Q1A;5Q1B;5Q1C;5Q1D;5Q1E;5Q1F;5Q1G;5Q1H;5Q1I;5WZX;5Z12;

name:
Bile acid receptor (Farnesoid X-activated receptor) (Farnesol receptor HRR-1) (Nuclear receptor subfamily 1 group H member 4) (Retinoid X receptor-interacting protein 14) (RXR-interacting protein 14)

sequence:

opentargets:
nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; bile acid binding [GO:0032052]; bile acid receptor activity [GO:0038181]; chenodeoxycholic acid binding [GO:1902122]; 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]; nuclear receptor activity [GO:0004879]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; retinoid X receptor binding [GO:0046965]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; thyroid hormone receptor activity [GO:0004887]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; bile acid and bile salt transport [GO:0015721]; bile acid metabolic process [GO:0008206]; bile acid signaling pathway [GO:0038183]; cell differentiation [GO:0030154]; cell-cell junction assembly [GO:0007043]; cellular glucose homeostasis [GO:0001678]; cellular response to fatty acid [GO:0071398]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to organonitrogen compound [GO:0071417]; cellular triglyceride homeostasis [GO:0035356]; cholesterol homeostasis [GO:0042632]; defense response to bacterium [GO:0042742]; fatty acid homeostasis [GO:0055089]; histone H3-R17 methylation [GO:0034971]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-17 secretion [GO:0072615]; intracellular bile acid receptor signaling pathway [GO:0038185]; intracellular receptor signaling pathway [GO:0030522]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bile acid biosynthetic process [GO:0070858]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interferon-gamma secretion [GO:1902714]; negative regulation of interleukin-1 production [GO:0032692]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of monocyte chemotactic protein-1 production [GO:0071638]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of tumor necrosis factor secretion [GO:1904468]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; nitrogen catabolite activation of transcription from RNA polymerase II promoter [GO:0001080]; Notch signaling pathway [GO:0007219]; positive regulation of adipose tissue development [GO:1904179]; positive regulation of ammonia assimilation cycle [GO:2001250]; positive regulation of glutamate metabolic process [GO:2000213]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of phosphatidic acid biosynthetic process [GO:1905695]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of bile acid biosynthetic process [GO:0070857]; regulation of cholesterol metabolic process [GO:0090181]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; regulation of low-density lipoprotein particle clearance [GO:0010988]; regulation of transcription, DNA-templated [GO:0006355]; regulation of urea metabolic process [GO:0034255]; signal transduction [GO:0007165]; toll-like receptor 4 signaling pathway [GO:0034142]; toll-like receptor 9 signaling pathway [GO:0034162]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=1; Synonyms=FXRalpha2(+), FXRalpha1, FXRbeta1; IsoId=Q96RI1-3; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=FXRalpha2(-), FXRalpha4, FXRbeta2; IsoId=Q96RI1-4; Sequence=VSP_003665; Note=Produced by alternative splicing of isoform 1.; Name=3; Synonyms=FXRalpha1(+), FXRalpha1; IsoId=Q96RI1-1; Sequence=VSP_010135; Note=Produced by alternative promoter usage.; Name=4; Synonyms=FXRalpha1(-), FXRalpha2; IsoId=Q96RI1-2; Sequence=VSP_010135, VSP_003665; Note=Produced by alternative splicing of isoform 3.; Name=5; IsoId=Q96RI1-5; Sequence=VSP_010135, VSP_044547; Note=Produced by alternative splicing of isoform 3. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19864602, ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:23928191}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:23928191}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus {ECO:0000269|PubMed:23928191}.; SUBCELLULAR LOCATION: Isoform 4: Nucleus {ECO:0000269|PubMed:23928191}.


uniprotID: O75469
geneSymbol: NR1I2
reactome: R-HSA-383280;R-HSA-4090294;
length: 434
go: ENSG00000144852;
drug: DB01248;DB00530;DB00783;DB00977;DB01892;DB01229;DB01708;DB01045;DB01220;DB08864;DB04466;DB00163;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:12606758}.
pdb:
1ILG;1ILH;1M13;1NRL;1SKX;2O9I;2QNV;3CTB;3HVL;3R8D;4J5W;4J5X;4NY9;4S0S;4S0T;4X1F;4X1G;4XAO;4XHD;5A86;5X0R;6BNS;6DUP;

name:
Nuclear receptor subfamily 1 group I member 2 (Orphan nuclear receptor PAR1) (Orphan nuclear receptor PXR) (Pregnane X receptor) (Steroid and xenobiotic receptor) (SXR)

sequence:

opentargets:
intermediate filament cytoskeleton [GO:0045111]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; drug binding [GO:0008144]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; drug export [GO:0046618]; exogenous drug catabolic process [GO:0042738]; multicellular organism development [GO:0007275]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; signal transduction [GO:0007165]; steroid metabolic process [GO:0008202]; transcription initiation from RNA polymerase II promoter [GO:0006367]; xenobiotic metabolic process [GO:0006805]; xenobiotic transport [GO:0042908]

snps:
rs1063955 rs59371185 rs12721613 rs12721607 rs72551371 rs12721608 rs72551373 rs35761343 rs72551375 rs72551376 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1A; Synonyms=1, PRR1-A; IsoId=O75469-1; Sequence=Displayed; Name=1B; Synonyms=PRR1-B; IsoId=O75469-2; Sequence=VSP_003668; Name=1C; Synonyms=PRR1-C; IsoId=O75469-3; Sequence=VSP_003667; Name=2A; Synonyms=2, PRR2-A; IsoId=O75469-4; Sequence=VSP_003669; Name=2B; Synonyms=PRR2-B; IsoId=O75469-5; Sequence=VSP_003668, VSP_003669; Name=2C; Synonyms=PRR2-C; IsoId=O75469-6; Sequence=VSP_003667, VSP_003669; Name=3; IsoId=O75469-7; Sequence=VSP_026669; 


uniprotID: Q14994
geneSymbol: NR1I3
reactome: R-HSA-383280;
pdb: 1XV9;1XVP;
length: 352
go: ENSG00000143257;
drug: DB01708;
snps: rs398122411
name:
Nuclear receptor subfamily 1 group I member 3 (Constitutive activator of retinoid response) (Constitutive active response) (Constitutive androstane receptor) (CAR) (Orphan nuclear receptor MB67)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; androgen receptor activity [GO:0004882]; DNA binding [GO:0003677]; 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]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; signaling receptor activity [GO:0038023]; thyroid hormone receptor activity [GO:0004887]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=15;  Name=1; IsoId=Q14994-1; Sequence=Displayed; Name=2; IsoId=Q14994-2; Sequence=VSP_010634; Name=3; IsoId=Q14994-3; Sequence=VSP_043144; Name=4; IsoId=Q14994-4; Sequence=VSP_043730, VSP_043731; Name=5; IsoId=Q14994-5; Sequence=VSP_043730, VSP_010634; Name=6; IsoId=Q14994-6; Sequence=VSP_043730, VSP_010634, VSP_043732; Name=7; IsoId=Q14994-7; Sequence=VSP_043731; Name=8; IsoId=Q14994-8; Sequence=VSP_043732; Name=9; IsoId=Q14994-9; Sequence=VSP_043730, VSP_010634, VSP_046144; Name=10; IsoId=Q14994-10; Sequence=VSP_043730, VSP_010634, VSP_043732, VSP_046144; Name=11; IsoId=Q14994-11; Sequence=VSP_043730, VSP_043732, VSP_046144; Name=12; IsoId=Q14994-12; Sequence=VSP_046144; Name=13; IsoId=Q14994-13; Sequence=VSP_055180, VSP_043732, VSP_046144; Name=14; IsoId=Q14994-15; Sequence=VSP_043731, VSP_046144; Name=15; IsoId=Q14994-16; Sequence=VSP_043730, VSP_043731, VSP_046144; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Recruited to the cytoplasm by DNAJC7. {ECO:0000250}.


uniprotID: P13056
geneSymbol: NR2C1
reactome: R-HSA-383280;R-HSA-4090294;
name: Nuclear receptor subfamily 2 group C member 1 (Orphan nuclear receptor TR2) (Testicular receptor 2)
length: 603
go: ENSG00000120798;
sequence:

opentargets:
nucleoplasm [GO:0005654]; PML body [GO:0016605]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; positive regulation of retinoic acid receptor signaling pathway [GO:0048386]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=TR2-11; IsoId=P13056-1; Sequence=Displayed; Name=2; Synonyms=TR2-9; IsoId=P13056-2; Sequence=VSP_036855, VSP_036857; Name=3; Synonyms=TR2-7; IsoId=P13056-3; Sequence=VSP_036856, VSP_036858; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}. Nucleus, PML body {ECO:0000250}. Note=Recruited by HDAC3, after all-trans retinoic acid stimulated MAPK1-mediated Thr-223 phosphorylation, to PML bodies for subsequent sumoylation. {ECO:0000250}.


uniprotID: P49116
geneSymbol: NR2C2
reactome: R-HSA-383280;
pdb: 3P0U;
length: 596
go: ENSG00000177463;
name:
Nuclear receptor subfamily 2 group C member 2 (Orphan nuclear receptor TAK1) (Orphan nuclear receptor TR4) (Testicular receptor 4)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein 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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; spermatogenesis [GO:0007283]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49116-1; Sequence=Displayed; Name=2; IsoId=P49116-2; Sequence=VSP_039522; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:15302918}.


uniprotID: Q86WQ0
geneSymbol: NR2C2AP
reactome: R-HSA-383280;
name: Nuclear receptor 2C2-associated protein (TR4 orphan receptor-associated 16 kDa protein)
length: 139
go: ENSG00000184162;
opentargets: nucleoplasm [GO:0005654]; transcription initiation from RNA polymerase II promoter [GO:0006367]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12486131}.
sequence:
MTHSLVCPETVSRVSSVLNRNTRQFGKKHLFDQDEETCWNSDQGPSQWVTLEFPQLIRVSQLQIQFQGGFSSRRGCLEGSQGTQALHKIVDFYPEDNNSLQTFPIPAAEVDRLKVTFEDATDFFGRVVIYHLRVLGEKV

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WQ0-1; Sequence=Displayed; Name=2; IsoId=Q86WQ0-2; Sequence=VSP_056072; Note=No experimental confirmation available.; 


uniprotID: Q9Y466
geneSymbol: NR2E1
reactome: R-HSA-383280;R-HSA-8943724;
pdb: 4XAJ;
length: 385
go: ENSG00000112333;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}.
name:
Nuclear receptor subfamily 2 group E member 1 (Nuclear receptor TLX) (Protein tailless homolog) (Tll) (hTll)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; 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]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; aggressive behavior [GO:0002118]; amygdala development [GO:0021764]; anterior commissure morphogenesis [GO:0021960]; behavioral fear response [GO:0001662]; cell fate commitment [GO:0045165]; cerebral cortex neuron differentiation [GO:0021895]; dentate gyrus development [GO:0021542]; extracellular matrix organization [GO:0030198]; forebrain generation of neurons [GO:0021872]; layer formation in cerebral cortex [GO:0021819]; long-term synaptic potentiation [GO:0060291]; negative regulation of apoptotic process [GO:0043066]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neuron differentiation [GO:0045665]; nervous system development [GO:0007399]; olfactory bulb development [GO:0021772]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell cycle [GO:0045787]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of stem cell proliferation [GO:2000648]; regulation of cell migration involved in sprouting angiogenesis [GO:0090049]; regulation of dendrite morphogenesis [GO:0048814]; regulation of timing of neuron differentiation [GO:0060164]; retina development in camera-type eye [GO:0060041]; social behavior [GO:0035176]; somatic stem cell population maintenance [GO:0035019]; transcription initiation from RNA polymerase II promoter [GO:0006367]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y466-1; Sequence=Displayed; Name=2; IsoId=Q9Y466-2; Sequence=VSP_054639; Note=No experimental confirmation available.; 


uniprotID: Q9Y5X4
geneSymbol: NR2E3
reactome: R-HSA-383280;
pdb: 4LOG;
length: 410
go: ENSG00000278570;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:15689355}.
name:
Photoreceptor-specific nuclear receptor (Nuclear receptor subfamily 2 group E member 3) (Retina-specific nuclear receptor)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; nuclear receptor activity [GO:0004879]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; eye photoreceptor cell development [GO:0042462]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; phototransduction [GO:0007602]; positive regulation of rhodopsin gene expression [GO:0045872]; positive regulation of transcription by RNA polymerase II [GO:0045944]; retina development in camera-type eye [GO:0060041]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; visual perception [GO:0007601]

snps:
rs202098481 rs121912631 rs104894493 rs104894492 rs766096417 rs990307718 rs146403122 rs1805020 rs1805021 rs1805023 rs377257254 rs764901119 rs1805025 rs28937873 rs752883545 rs766769900 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9Y5X4-1; Sequence=Displayed; Name=Short; IsoId=Q9Y5X4-2; Sequence=VSP_003679; 


uniprotID: P10588
geneSymbol: NR2F6
reactome: R-HSA-383280;
name: Nuclear receptor subfamily 2 group F member 6 (V-erbA-related protein 2) (EAR-2)
length: 404
go: ENSG00000160113;
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; nuclear receptor activity [GO:0004879]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; thyroid hormone receptor activity [GO:0004887]; zinc ion binding [GO:0008270]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; entrainment of circadian clock by photoperiod [GO:0043153]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron development [GO:0048666]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407, ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:18701084}.


uniprotID: Q68D85
geneSymbol: NCR3LG1
reactome: R-HSA-198933;
pdb: 3PV6;3PV7;4ZSO;
name: Natural cytotoxicity triggering receptor 3 ligand 1 (B7 homolog 6) (B7-H6)
length: 454
go: ENSG00000188211;
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; structural molecule activity [GO:0005198]; regulation of immune response [GO:0050776]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19528259}; Single-pass type I membrane protein {ECO:0000269|PubMed:19528259}.


uniprotID: P22736
geneSymbol: NR4A1
reactome: R-HSA-198693;R-HSA-383280;R-HSA-5674400;
pdb: 2QW4;3V3E;3V3Q;4JGV;4KZI;4KZJ;4KZM;4RE8;4REE;4REF;4RZE;4RZF;4RZG;4WHF;4WHG;
length: 598
go: ENSG00000123358;
snps: rs1882118
name:
Nuclear receptor subfamily 4 group A member 1 (Early response protein NAK1) (Nuclear hormone receptor NUR/77) (Nur77) (Orphan nuclear receptor HMR) (Orphan nuclear receptor TR3) (ST-59) (Testicular receptor 3)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; glucocorticoid receptor binding [GO:0035259]; nuclear receptor activity [GO:0004879]; 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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; cell migration involved in sprouting angiogenesis [GO:0002042]; cellular response to corticotropin-releasing hormone stimulus [GO:0071376]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; endothelial cell chemotaxis [GO:0035767]; fat cell differentiation [GO:0045444]; negative regulation of cell cycle [GO:0045786]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of type B pancreatic cell proliferation [GO:0061469]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P22736-1; Sequence=Displayed; Name=2; IsoId=P22736-2; Sequence=VSP_043086; Note=No experimental confirmation available.; Name=3; IsoId=P22736-3; Sequence=VSP_047769, VSP_047770; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20438716, ECO:0000269|PubMed:22427340, ECO:0000269|PubMed:22983157}. Cytoplasm {ECO:0000269|PubMed:20438716, ECO:0000269|PubMed:22427340}. Note=Nuclear export to the cytoplasm is XPO1-mediated and positively regulated by IFI27. {ECO:0000269|PubMed:22427340}.


uniprotID: P43354
geneSymbol: NR4A2
reactome: R-HSA-383280;R-HSA-4090294;
pdb: 1OVL;
length: 598
go: ENSG00000153234;
name:
Nuclear receptor subfamily 4 group A member 2 (Immediate-early response protein NOT) (Orphan nuclear receptor NURR1) (Transcriptionally-inducible nuclear receptor)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; beta-catenin binding [GO:0008013]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; glucocorticoid receptor binding [GO:0035259]; nuclear receptor activity [GO:0004879]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; retinoid X receptor binding [GO:0046965]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; adult locomotory behavior [GO:0008344]; canonical Wnt signaling pathway [GO:0060070]; cellular response to corticotropin-releasing hormone stimulus [GO:0071376]; cellular response to extracellular stimulus [GO:0031668]; cellular response to oxidative stress [GO:0034599]; central nervous system neuron differentiation [GO:0021953]; central nervous system projection neuron axonogenesis [GO:0021952]; dopamine biosynthetic process [GO:0042416]; dopaminergic neuron differentiation [GO:0071542]; fat cell differentiation [GO:0045444]; general adaptation syndrome [GO:0051866]; habenula development [GO:0021986]; midbrain dopaminergic neuron differentiation [GO:1904948]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron maturation [GO:0042551]; neuron migration [GO:0001764]; positive regulation of catalytic activity [GO:0043085]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic development [GO:0009791]; regulation of dopamine metabolic process [GO:0042053]; regulation of respiratory gaseous exchange [GO:0043576]; response to amphetamine [GO:0001975]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43354-1; Sequence=Displayed; Name=2; IsoId=P43354-2; Sequence=VSP_056057; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mostly nuclear; oxidative stress promotes cytoplasmic localization.


uniprotID: Q92570
geneSymbol: NR4A3
reactome: R-HSA-383280;R-HSA-8936459;
length: 626
go: ENSG00000119508;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}.
name:
Nuclear receptor subfamily 4 group A member 3 (Mitogen-induced nuclear orphan receptor) (Neuron-derived orphan receptor 1) (Nuclear hormone receptor NOR-1)

sequence:

opentargets:
mast cell granule [GO:0042629]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; cAMP response element binding [GO:0035497]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; glucocorticoid receptor binding [GO:0035259]; histone acetyltransferase binding [GO:0035035]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; thyroid hormone receptor activity [GO:0004887]; transcription coactivator binding [GO:0001223]; zinc ion binding [GO:0008270]; adult behavior [GO:0030534]; animal organ regeneration [GO:0031100]; axon guidance [GO:0007411]; cellular respiration [GO:0045333]; cellular response to catecholamine stimulus [GO:0071870]; cellular response to corticotropin-releasing hormone stimulus [GO:0071376]; cellular response to leptin stimulus [GO:0044320]; common myeloid progenitor cell proliferation [GO:0035726]; energy homeostasis [GO:0097009]; fat cell differentiation [GO:0045444]; gastrulation [GO:0007369]; hippocampus development [GO:0021766]; mast cell degranulation [GO:0043303]; mesoderm formation [GO:0001707]; negative regulation of hydrogen peroxide-induced neuron death [GO:1903208]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuromuscular process controlling balance [GO:0050885]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell cycle [GO:0045787]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of fatty acid oxidation [GO:0046321]; positive regulation of feeding behavior [GO:2000253]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of leukocyte apoptotic process [GO:2000108]; positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway [GO:0038097]; positive regulation of mast cell cytokine production [GO:0032765]; positive regulation of monocyte aggregation [GO:1900625]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; pyruvate oxidation [GO:0009444]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of smooth muscle cell proliferation [GO:0048660]; regulation of type B pancreatic cell proliferation [GO:0061469]; response to hydrogen peroxide [GO:0042542]; semicircular canal morphogenesis [GO:0048752]; transcription initiation from RNA polymerase II promoter [GO:0006367]; vestibular reflex [GO:0060005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=Q92570-1; Sequence=Displayed; Name=Beta; IsoId=Q92570-2; Sequence=VSP_003712, VSP_003713; Name=3; IsoId=Q92570-3; Sequence=VSP_037877; Note=No experimental confirmation available.; 


uniprotID: Q8NHP6
geneSymbol: MOSPD2
reactome: R-HSA-6798695;
name: Motile sperm domain-containing protein 2
length: 518
go: ENSG00000130150;
snps: rs35164803
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; chemotaxis [GO:0006935]; neutrophil degranulation [GO:0043312]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of neutrophil chemotaxis [GO:0090023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHP6-1; Sequence=Displayed; Name=2; IsoId=Q8NHP6-2; Sequence=VSP_014046; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28137892}; Single-pass membrane protein {ECO:0000305}.


uniprotID: O00482
geneSymbol: NR5A2
reactome: R-HSA-210747;R-HSA-383280;R-HSA-4090294;R-HSA-9018519;
pdb: 1YOK;1YUC;1ZDU;2A66;3PLZ;3TX7;4DOR;4DOS;4IS8;4ONI;4PLD;4PLE;4RWV;5L0M;5L11;5SYZ;5UNJ;
length: 541
go: ENSG00000116833;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Nuclear receptor subfamily 5 group A member 2 (Alpha-1-fetoprotein transcription factor) (B1-binding factor) (hB1F) (CYP7A promoter-binding factor) (Hepatocytic transcription factor) (Liver receptor homolog 1) (LRH-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; 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]; nuclear receptor activity [GO:0004879]; phospholipid binding [GO:0005543]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; bile acid metabolic process [GO:0008206]; calcineurin-mediated signaling [GO:0097720]; cellular response to leukemia inhibitory factor [GO:1990830]; cholesterol homeostasis [GO:0042632]; embryo development ending in birth or egg hatching [GO:0009792]; epithelial cell differentiation [GO:0030855]; homeostatic process [GO:0042592]; hormone-mediated signaling pathway [GO:0009755]; pancreas morphogenesis [GO:0061113]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of viral genome replication [GO:0045070]; regulation of cell proliferation [GO:0042127]; regulation of transcription, DNA-templated [GO:0006355]; tissue development [GO:0009888]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; Synonyms=B1F2; IsoId=O00482-1; Sequence=Displayed; Name=1; IsoId=O00482-2; Sequence=VSP_003716; Name=3; IsoId=O00482-3; Sequence=VSP_003717; Note=Does not induce CYP7A promoter activity.; Name=4; IsoId=O00482-4; Sequence=VSP_054548; Note=No experimental confirmation available.; 


uniprotID: Q15406
geneSymbol: NR6A1
reactome: R-HSA-2892247;R-HSA-383280;
length: 480
go: ENSG00000148200;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Nuclear receptor subfamily 6 group A member 1 (Germ cell nuclear factor) (GCNF) (hGCNF) (Retinoid receptor-related testis-specific receptor) (RTR) (hRTR)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; gamete generation [GO:0007276]; negative regulation of transcription by RNA polymerase II [GO:0000122]; spermatogenesis [GO:0007283]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q15406-1; Sequence=Displayed; Name=2; IsoId=Q15406-2; Sequence=VSP_003721; Name=3; IsoId=Q15406-3; Sequence=VSP_003720, VSP_003721; Name=4; IsoId=Q15406-4; Sequence=VSP_025927; Note=No experimental confirmation available.; Name=5; IsoId=Q15406-5; Sequence=VSP_003721, VSP_025927; Note=No experimental confirmation available.; 


uniprotID: Q8N912
geneSymbol: NRAC
name: Nutritionally-regulated adipose and cardiac enriched protein homolog
length: 160
go: ENSG00000184601;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
sequence:
MRTAAGAVSPDSRPETRRQTRKNEEAAWGPRVCRAEREDNRKCPPSILKRSRPEHHRPEAKPQRTSRRVWFREPPAVTVHYIADKNATATVRVPGRPRPHGGSLLLQLCVCVLLVLALGLYCGRAKPVATALEDLRARLLGLVLHLRHVALTCWRGLLRL


uniprotID: P49279
geneSymbol: SLC11A1
reactome: R-HSA-1222556;R-HSA-425410;R-HSA-6798695;R-HSA-6803544;
name: Natural resistance-associated macrophage protein 1 (NRAMP 1) (Solute carrier family 11 member 1)
length: 550
go: ENSG00000018280;
snps: rs751872662 rs201565523 rs17235409
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosome [GO:0005764]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; cadmium ion transmembrane transporter activity [GO:0015086]; manganese ion transmembrane transporter activity [GO:0005384]; metal ion:proton antiporter activity [GO:0051139]; protein homodimerization activity [GO:0042803]; transition metal ion transmembrane transporter activity [GO:0046915]; activation of protein kinase activity [GO:0032147]; antigen processing and presentation of peptide antigen [GO:0048002]; antimicrobial humoral response [GO:0019730]; cadmium ion transmembrane transport [GO:0070574]; cell redox homeostasis [GO:0045454]; cellular cadmium ion homeostasis [GO:0006876]; cellular iron ion homeostasis [GO:0006879]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to protozoan [GO:0042832]; divalent metal ion export [GO:0070839]; inflammatory response [GO:0006954]; interleukin-2 production [GO:0032623]; interleukin-3 production [GO:0032632]; iron ion homeostasis [GO:0055072]; iron ion transport [GO:0006826]; L-arginine transport [GO:1902023]; macrophage activation [GO:0042116]; manganese ion transport [GO:0006828]; MHC class II biosynthetic process [GO:0045342]; mRNA stabilization [GO:0048255]; multicellular organismal iron ion homeostasis [GO:0060586]; negative regulation of cytokine production [GO:0001818]; neutrophil degranulation [GO:0043312]; nitrite transport [GO:0015707]; phagocytosis [GO:0006909]; positive regulation of cytokine production [GO:0001819]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of gene expression [GO:0010628]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of phagocytosis [GO:0050766]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of transcription by RNA polymerase II [GO:0045944]; respiratory burst [GO:0045730]; response to bacterium [GO:0009617]; response to interferon-gamma [GO:0034341]; response to lipopolysaccharide [GO:0032496]; T cell cytokine production [GO:0002369]; T cell proliferation involved in immune response [GO:0002309]; vacuolar acidification [GO:0007035]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49279-1; Sequence=Displayed; Name=2; IsoId=P49279-2; Sequence=VSP_047875, VSP_047876; Note=No experimental confirmation available.; 


uniprotID: P49281
geneSymbol: SLC11A2
reactome: R-HSA-425410;R-HSA-5619048;R-HSA-917937;
pdb: 5F0L;5F0M;5F0P;
length: 568
go: ENSG00000110911;
snps: rs760028045 rs121918367 rs121918365 rs121918366 rs144863268
name:
Natural resistance-associated macrophage protein 2 (NRAMP 2) (Divalent cation transporter 1) (Divalent metal transporter 1) (DMT-1) (Solute carrier family 11 member 2)

sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; basal part of cell [GO:0045178]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; extracellular vesicle [GO:1903561]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; paraferritin complex [GO:0070826]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; vacuole [GO:0005773]; cadmium ion binding [GO:0046870]; cadmium ion transmembrane transporter activity [GO:0015086]; cobalt ion binding [GO:0050897]; cobalt ion transmembrane transporter activity [GO:0015087]; copper ion binding [GO:0005507]; copper ion transmembrane transporter activity [GO:0005375]; ferrous iron transmembrane transporter activity [GO:0015093]; inorganic cation transmembrane transporter activity [GO:0022890]; iron ion binding [GO:0005506]; iron ion transmembrane transporter activity [GO:0005381]; lead ion transmembrane transporter activity [GO:0015094]; manganese ion binding [GO:0030145]; manganese ion transmembrane transporter activity [GO:0005384]; nickel cation binding [GO:0016151]; nickel cation transmembrane transporter activity [GO:0015099]; retromer complex binding [GO:1905394]; solute:proton symporter activity [GO:0015295]; transition metal ion transmembrane transporter activity [GO:0046915]; vanadium ion transmembrane transporter activity [GO:0015100]; zinc ion binding [GO:0008270]; zinc ion transmembrane transporter activity [GO:0005385]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; cadmium ion transmembrane transport [GO:0070574]; calcium ion transmembrane transport [GO:0070588]; cellular iron ion homeostasis [GO:0006879]; cellular response to oxidative stress [GO:0034599]; cobalt ion transport [GO:0006824]; copper ion transport [GO:0006825]; dendrite morphogenesis [GO:0048813]; detection of oxygen [GO:0003032]; erythrocyte development [GO:0048821]; ferrous iron import [GO:0070627]; ferrous iron transmembrane transport [GO:1903874]; ferrous iron transport [GO:0015684]; heme biosynthetic process [GO:0006783]; lead ion transport [GO:0015692]; learning or memory [GO:0007611]; manganese ion transport [GO:0006828]; multicellular organismal iron ion homeostasis [GO:0060586]; nickel cation transport [GO:0015675]; response to hypoxia [GO:0001666]; response to iron ion [GO:0010039]; vanadium ion transport [GO:0015676]; zinc ion transmembrane transport [GO:0071577]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; Synonyms=Non-IRE, DMT1B; IsoId=P49281-1; Sequence=Displayed; Name=1; Synonyms=IRE; IsoId=P49281-2; Sequence=VSP_003595; Name=3; Synonyms=1A-IRE; IsoId=P49281-3; Sequence=VSP_038144, VSP_003595; Name=4; Synonyms=1A-Non-IRE; IsoId=P49281-4; Sequence=VSP_038144; Note=No experimental confirmation available.; Name=5; IsoId=P49281-5; Sequence=VSP_046058, VSP_003595; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:12475959, ECO:0000269|PubMed:25491917}; Multi-pass membrane protein {ECO:0000305}. Early endosome {ECO:0000269|PubMed:12475959}.; SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:12475959, ECO:0000269|PubMed:18776082, ECO:0000269|PubMed:25491917}; Multi-pass membrane protein {ECO:0000269|PubMed:18776082}. Mitochondrion outer membrane {ECO:0000269|PubMed:24448823}; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:12475959, ECO:0000269|PubMed:25326704, ECO:0000269|PubMed:25491917}; Multi-pass membrane protein {ECO:0000305}. Note=Also found in extracellular vesicles different from exosomes. {ECO:0000269|PubMed:27462458}.


uniprotID: Q9Y2G1
geneSymbol: MYRF
pdb: 5YHU;5ZHU;
length: 1151
go: ENSG00000124920;
snps: rs34038946
name:
Myelin regulatory factor (EC 3.4.-.-) (Myelin gene regulatory factor) [Cleaved into: Myelin regulatory factor, N-terminal; Myelin regulatory factor, C-terminal]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; sequence-specific DNA binding [GO:0043565]; central nervous system myelin maintenance [GO:0032286]; central nervous system myelination [GO:0022010]; oligodendrocyte development [GO:0014003]; oligodendrocyte differentiation [GO:0048709]; positive regulation of myelination [GO:0031643]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2G1-1; Sequence=Displayed; Name=2; IsoId=Q9Y2G1-2; Sequence=VSP_031300, VSP_031301, VSP_031302; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Myelin regulatory factor: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23966832}; Single-pass membrane protein.; SUBCELLULAR LOCATION: Myelin regulatory factor, N-terminal: Nucleus {ECO:0000269|PubMed:23966832}. Cytoplasm {ECO:0000269|PubMed:23966832}. Note=Translocates from the cytoplasm to the nucleus upon autocatalytic cleavage. {ECO:0000269|PubMed:23966832}.; SUBCELLULAR LOCATION: Myelin regulatory factor, C-terminal: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23966832}; Single-pass membrane protein {ECO:0000269|PubMed:23966832}.


uniprotID: Q02297
geneSymbol: NRG1
pdb: 1HAE;1HAF;1HRE;1HRF;3U7U;
length: 640
go: ENSG00000157168;
snps: rs3924999 rs10503929 rs3735774 rs34822181
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1257604;R-HSA-1306955;R-HSA-1358803;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;

name:
Pro-neuregulin-1, membrane-bound isoform (Pro-NRG1) [Cleaved into: Neuregulin-1 (Acetylcholine receptor-inducing activity) (ARIA) (Breast cancer cell differentiation factor p45) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory and motor neuron-derived factor)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon [GO:0030424]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic active zone membrane [GO:0099059]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; nucleoplasm [GO:0005654]; chemorepellent activity [GO:0045499]; cytokine activity [GO:0005125]; ErbB-2 class receptor binding [GO:0005176]; ErbB-3 class receptor binding [GO:0043125]; growth factor activity [GO:0008083]; integrin binding [GO:0005178]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activator activity [GO:0030296]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor tyrosine kinase binding [GO:0030971]; signaling receptor binding [GO:0005102]; transcription coregulator activity [GO:0003712]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; activation of MAPK activity [GO:0000187]; activation of protein kinase B activity [GO:0032148]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; cardiac conduction system development [GO:0003161]; cardiac muscle cell differentiation [GO:0055007]; cardiac muscle cell myoblast differentiation [GO:0060379]; cell communication [GO:0007154]; cell morphogenesis [GO:0000902]; cell proliferation [GO:0008283]; cellular protein complex disassembly [GO:0043624]; chemorepulsion involved in interneuron migration from the subpallium to the cortex [GO:0021842]; endocardial cell differentiation [GO:0060956]; ERBB signaling pathway [GO:0038127]; ERBB2 signaling pathway [GO:0038128]; ERBB3 signaling pathway [GO:0038129]; ERBB4 signaling pathway [GO:0038130]; glial cell fate commitment [GO:0021781]; intracellular signal transduction [GO:0035556]; locomotory behavior [GO:0007626]; mammary gland development [GO:0030879]; MAPK cascade [GO:0000165]; myelination in peripheral nervous system [GO:0022011]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of neuron migration [GO:2001223]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of secretion [GO:0051048]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; neural crest cell development [GO:0014032]; neuron fate commitment [GO:0048663]; neurotransmitter receptor metabolic process [GO:0045213]; oligodendrocyte differentiation [GO:0048709]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-tyrosine autophosphorylation [GO:1900086]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of striated muscle cell differentiation [GO:0051155]; postsynapse to nucleus signaling pathway [GO:0099527]; regulation of cell motility [GO:2000145]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; regulation of protein heterodimerization activity [GO:0043497]; regulation of protein homodimerization activity [GO:0043496]; synapse assembly [GO:0007416]; synaptic membrane adhesion [GO:0099560]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; ventricular cardiac muscle cell differentiation [GO:0055012]; ventricular trabecula myocardium morphogenesis [GO:0003222]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist. Isoforms have been classified as type I NRGs (isoforms with an Ig domain and a glycosylation domain, isoforms 1-8), type II NRGs (isoforms with an Ig domain but no glycosylation domain, isoform 9), type III NRGs (isoforms with a Cys-rich domain, isoform 10) and type IV NRGs (isoforms with additional 5' exons, isoform 11). All these isoforms perform distinct tissue-specific functions.; Name=1; Synonyms=Alpha; IsoId=Q02297-1; Sequence=Displayed; Name=2; Synonyms=Alpha1A; IsoId=Q02297-2; Sequence=VSP_003431; Name=3; Synonyms=Alpha2B; IsoId=Q02297-3; Sequence=VSP_003434, VSP_003435; Name=4; Synonyms=Alpha3; IsoId=Q02297-4; Sequence=VSP_003432, VSP_003433; Name=6; Synonyms=Beta1, Beta1A; IsoId=Q02297-6; Sequence=VSP_003428; Name=7; Synonyms=Beta2; IsoId=Q02297-7; Sequence=VSP_003427; Name=8; Synonyms=Beta3, GGFHFB1; IsoId=Q02297-8; Sequence=VSP_003429, VSP_003430; Name=9; Synonyms=GGF2, GGFHPP2; IsoId=Q02297-9; Sequence=VSP_003425, VSP_003426, VSP_003429, VSP_003430; Name=10; Synonyms=SMDF; IsoId=Q02297-10; Sequence=VSP_037562, VSP_037565, VSP_003429, VSP_003430; Note=Potential internal signal sequence at positions 76-100.; Name=11; Synonyms=Type IV-beta1a; IsoId=Q02297-11; Sequence=VSP_037563, VSP_037564, VSP_003426, VSP_003428; Name=12; IsoId=Q02297-12; Sequence=VSP_003427, VSP_046417; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Pro-neuregulin-1, membrane-bound isoform: Cell membrane; Single-pass type I membrane protein. Note=Does not seem to be active.; SUBCELLULAR LOCATION: Neuregulin-1: Secreted.; SUBCELLULAR LOCATION: Isoform 8: Nucleus. Note=May be nuclear.; SUBCELLULAR LOCATION: Isoform 9: Secreted. Note=Has a signal peptide.; SUBCELLULAR LOCATION: Isoform 10: Membrane; Single-pass type I membrane protein. Note=May possess an internal uncleaved signal sequence.


uniprotID: O14511
geneSymbol: NRG2
length: 850
go: ENSG00000158458;
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1257604;R-HSA-1306955;R-HSA-1358803;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;

name:
Pro-neuregulin-2, membrane-bound isoform (Pro-NRG2) [Cleaved into: Neuregulin-2 (NRG-2) (Divergent of neuregulin-1) (DON-1) (Neural- and thymus-derived activator for ERBB kinases) (NTAK)]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; ERBB2 signaling pathway [GO:0038128]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of cell motility [GO:2000145]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=O14511-1; Sequence=Displayed; Name=2; IsoId=O14511-2; Sequence=VSP_003453; Note=No experimental confirmation available.; Name=3; IsoId=O14511-3; Sequence=VSP_003455; Note=No experimental confirmation available.; Name=4; IsoId=O14511-4; Sequence=VSP_003454; Note=No experimental confirmation available.; Name=5; IsoId=O14511-5; Sequence=VSP_003458, VSP_003459; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=O14511-6; Sequence=VSP_003456, VSP_003457; Note=No experimental confirmation available.; Name=DON-1B; IsoId=O14511-7; Sequence=VSP_003452, VSP_003455; Name=DON-1R; IsoId=O14511-8; Sequence=VSP_003451; 

location:
SUBCELLULAR LOCATION: Pro-neuregulin-2, membrane-bound isoform: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Does not seem to be active. {ECO:0000250}.; SUBCELLULAR LOCATION: Neuregulin-2: Secreted {ECO:0000250}.


uniprotID: Q5VVJ2
geneSymbol: MYSM1
reactome: R-HSA-5689901;
pdb: 2CU7;2DCE;
length: 828
go: ENSG00000162601;
snps: rs17118103 rs12139511 rs232777
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00624, ECO:0000269|PubMed:17707232}.
name:
Histone H2A deubiquitinase MYSM1 (2A-DUB) (EC 3.4.19.-) (Myb-like, SWIRM and MPN domain-containing protein 1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; protein-containing complex binding [GO:0044877]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; transcription coactivator activity [GO:0003713]; chromatin remodeling [GO:0006338]; monoubiquitinated histone H2A deubiquitination [GO:0035522]; pigmentation [GO:0043473]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell migration [GO:0030334]; regulation of hair follicle development [GO:0051797]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VVJ2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5VVJ2-2; Sequence=VSP_018211; Note=No experimental confirmation available.; Name=3; IsoId=Q5VVJ2-3; Sequence=VSP_018210; 


uniprotID: Q9NQ35
geneSymbol: NRIP3
name: Nuclear receptor-interacting protein 3 (Sarcoma antigen NY-SAR-105)
length: 241
go: ENSG00000175352;
opentargets: aspartic-type endopeptidase activity [GO:0004190]
sequence:


uniprotID: Q01726
geneSymbol: MC1R
reactome: R-HSA-375276;R-HSA-418555;
name: Melanocyte-stimulating hormone receptor (MSH-R) (Melanocortin receptor 1) (MC1-R)
length: 317
go: ENSG00000258839;
drug: DB04931;DB05479;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; melanocortin receptor activity [GO:0004977]; melanocyte-stimulating hormone receptor activity [GO:0004980]; ubiquitin protein ligase binding [GO:0031625]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; intracellular signal transduction [GO:0035556]; melanin biosynthetic process [GO:0042438]; multicellular organism development [GO:0007275]; negative regulation of tumor necrosis factor production [GO:0032720]; pigmentation [GO:0043473]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein kinase C signaling [GO:0090037]; positive regulation of transcription by RNA polymerase II [GO:0045944]; sensory perception of pain [GO:0019233]; UV protection [GO:0009650]; UV-damage excision repair [GO:0070914]

snps:
rs200050206 rs748138541 rs766080391 rs1805005 rs34090186 rs1805006 rs34540312 rs2228479 rs34158934 rs2229617 rs33932559 rs201192930 rs374235260 rs11547464 rs1805007 rs1110400 rs3212365 rs104894524 rs104894523 rs1805008 rs885479 rs35040147 rs35784916 rs3212366 rs141177570 rs369542041 rs1805009 


uniprotID: O75161
geneSymbol: NPHP4
reactome: R-HSA-2028269;R-HSA-5620912;
name: Nephrocystin-4 (Nephroretinin)
length: 1426
go: ENSG00000131697;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary base [GO:0097546]; cytosol [GO:0005829]; nucleus [GO:0005634]; photoreceptor connecting cilium [GO:0032391]; ribbon synapse [GO:0097470]; structural molecule activity [GO:0005198]; actin cytoskeleton organization [GO:0030036]; cell-cell adhesion [GO:0098609]; ciliary basal body-plasma membrane docking [GO:0097711]; flagellated sperm motility [GO:0030317]; hippo signaling [GO:0035329]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; photoreceptor cell maintenance [GO:0045494]; photoreceptor cell outer segment organization [GO:0035845]; positive regulation of bicellular tight junction assembly [GO:1903348]; retina development in camera-type eye [GO:0060041]; signal transduction [GO:0007165]; visual behavior [GO:0007632]

snps:
rs145078518 rs12142270 rs201065230 rs761063669 rs200684272 rs190940697 rs758253306 rs145255635 rs12093500 rs571655 rs199891059 rs191913664 rs34248917 rs373962831 rs149244006 rs201527181 rs17472401 rs769851221 rs199992272 rs1287637 rs12084067 rs183885357 rs28940891 rs375819124 rs41280798 rs139767853 rs139022622 rs144624477 rs781049266 rs779755743 rs201779243 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75161-1; Sequence=Displayed; Name=2; IsoId=O75161-2; Sequence=VSP_054514, VSP_054515, VSP_054516; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:26644512}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction {ECO:0000250|UniProtKB:P59240}. Nucleus {ECO:0000269|PubMed:22654112}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:P59240, ECO:0000269|PubMed:26644512}.


uniprotID: Q9BV57
geneSymbol: ADI1
reactome: R-HSA-1237112;
pdb: 4QGN;
length: 179
go: ENSG00000182551;
drug: DB02325;
name:
1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase (EC 1.13.11.54) (Acireductone dioxygenase (Fe(2+)-requiring)) (ARD) (Fe-ARD) (Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein 1) (MTCBP-1) (Submergence-induced protein-like factor) (Sip-L)

sequence:
MVQAWYMDDAPGDPRQPHRPDPGRPVGLEQLRRLGVLYWKLDADKYENDPELEKIRRERNYSWMDIITICKDKLPNYEEKIKMFYEEHLHLDDEIRYILDGSGYFDVRDKEDQWIRIFMEKGDMVTLPAGIYHRFTVDEKNYTKAMRLFVGEPVWTAYNRPADHFEARGQYVKFLAQTA

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; acireductone dioxygenase [iron(II)-requiring] activity [GO:0010309]; iron ion binding [GO:0005506]; oxidoreductase activity [GO:0016491]; L-methionine salvage from methylthioadenosine [GO:0019509]; methionine metabolic process [GO:0006555]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV57-1; Sequence=Displayed; Name=2; IsoId=Q9BV57-2; Sequence=VSP_015822; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localizes to the plasma membrane when complexed to MMP14.


uniprotID: Q8TAT6
geneSymbol: NPLOC4
reactome: R-HSA-110320;
name: Nuclear protein localization protein 4 homolog (Protein NPL4)
length: 608
go: ENSG00000182446;
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nuclear outer membrane-endoplasmic reticulum membrane network [GO:0042175]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; UFD1-NPL4 complex [GO:0036501]; VCP-NPL4-UFD1 AAA ATPase complex [GO:0034098]; metal ion binding [GO:0046872]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; error-free translesion synthesis [GO:0070987]; Golgi organization [GO:0007030]; negative regulation of RIG-I signaling pathway [GO:0039536]; negative regulation of type I interferon production [GO:0032480]; retrograde protein transport, ER to cytosol [GO:0030970]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TAT6-1; Sequence=Displayed; Name=2; IsoId=Q8TAT6-2; Sequence=VSP_009789; Note=May be due to an intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9ES54}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q9ES54}. Nucleus {ECO:0000250|UniProtKB:Q9ES54}. Note=Associated with the endoplasmic reticulum and nuclear. {ECO:0000250|UniProtKB:Q9ES54}.


uniprotID: Q9BXD5
geneSymbol: NPL
reactome: R-HSA-4085001;
pdb: 6ARH;
length: 320
go: ENSG00000135838;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
N-acetylneuraminate lyase (NALase) (EC 4.1.3.3) (N-acetylneuraminate pyruvate-lyase) (N-acetylneuraminic acid aldolase) (Sialate lyase) (Sialate-pyruvate lyase) (Sialic acid aldolase) (Sialic acid lyase)

sequence:

opentargets:
cytosol [GO:0005829]; identical protein binding [GO:0042802]; N-acetylneuraminate lyase activity [GO:0008747]; carbohydrate metabolic process [GO:0005975]; N-acetylneuraminate catabolic process [GO:0019262]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BXD5-1; Sequence=Displayed; Name=2; IsoId=Q9BXD5-2; Sequence=VSP_022518; Name=3; IsoId=Q9BXD5-3; Sequence=VSP_022522; Note=No experimental confirmation available.; Name=4; IsoId=Q9BXD5-4; Sequence=VSP_022521, VSP_022522; Note=No experimental confirmation available.; Name=5; IsoId=Q9BXD5-5; Sequence=VSP_022519, VSP_022520; 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: Q86SE8
geneSymbol: NPM2
pdb: 3T30;
name: Nucleoplasmin-2
length: 214
go: ENSG00000158806;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic chromatin [GO:0000789]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; histone binding [GO:0042393]; blastocyst development [GO:0001824]; chromatin remodeling [GO:0006338]; oocyte differentiation [GO:0009994]; positive regulation of catalytic activity [GO:0043085]; positive regulation of DNA replication [GO:0045740]; positive regulation of meiotic nuclear division [GO:0045836]; protein homooligomerization [GO:0051260]; regulation of exit from mitosis [GO:0007096]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SE8-1; Sequence=Displayed; Name=2; IsoId=Q86SE8-2; Sequence=VSP_054261; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Found in the oocyte nucleus before nuclear membrane breakdown, after which it is redistributed to the cytoplasm. {ECO:0000250}.


uniprotID: O75607
geneSymbol: NPM3
name: Nucleoplasmin-3
length: 178
go: ENSG00000107833;
snps: rs34376117 rs2735420
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11722795}.
sequence:
MAAGTAAALAFLSQESRTRAGGVGGLRVPAPVTMDSFFFGCELSGHTRSFTFKVEEEDDAEHVLALTMLCLTEGAKDECNVVEVVARNHDHQEIAVPVANLKLSCQPMLSLDDFQLQPPVTFRLKSGSGPVRITGRHQIVTMSNDVSEEESEEEEEDSDEEEVELCPILPAKKQGGRP

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; RNA binding [GO:0003723]; chromatin remodeling [GO:0006338]; rRNA processing [GO:0006364]; rRNA transcription [GO:0009303]


uniprotID: P06748
geneSymbol: NPM1
reactome: R-HSA-180746;R-HSA-3899300;R-HSA-606279;R-HSA-6804115;R-HSA-8869496;
pdb: 2LLH;2P1B;2VXD;5EHD;
name: Nucleophosmin (NPM) (Nucleolar phosphoprotein B23) (Nucleolar protein NO38) (Numatrin)
length: 294
go: ENSG00000181163;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; ribonucleoprotein complex [GO:1990904]; spindle pole centrosome [GO:0031616]; activating transcription factor binding [GO:0033613]; chromatin binding [GO:0003682]; core promoter binding [GO:0001047]; histone binding [GO:0042393]; NF-kappaB binding [GO:0051059]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; ribosomal large subunit binding [GO:0043023]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; Tat protein binding [GO:0030957]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; unfolded protein binding [GO:0051082]; cell aging [GO:0007569]; cellular response to UV [GO:0034644]; CENP-A containing nucleosome assembly [GO:0034080]; centrosome cycle [GO:0007098]; chromatin remodeling [GO:0006338]; DNA repair [GO:0006281]; intracellular protein transport [GO:0006886]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of centrosome duplication [GO:0010826]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; nucleocytoplasmic transport [GO:0006913]; nucleosome assembly [GO:0006334]; positive regulation of cell cycle G2/M phase transition [GO:1902751]; positive regulation of cell proliferation [GO:0008284]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; protein complex oligomerization [GO:0051259]; protein localization [GO:0008104]; regulation of centriole replication [GO:0046599]; regulation of centrosome duplication [GO:0010824]; regulation of eIF2 alpha phosphorylation by dsRNA [GO:0060735]; regulation of endodeoxyribonuclease activity [GO:0032071]; regulation of endoribonuclease activity [GO:0060699]; regulation of mRNA stability involved in cellular response to UV [GO:1902629]; regulation of transcription by RNA polymerase II [GO:0006357]; ribosomal large subunit biogenesis [GO:0042273]; ribosomal large subunit export from nucleus [GO:0000055]; ribosomal small subunit biogenesis [GO:0042274]; ribosomal small subunit export from nucleus [GO:0000056]; ribosome assembly [GO:0042255]; rRNA export from nucleus [GO:0006407]; signal transduction [GO:0007165]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P06748-1; Sequence=Displayed; Name=2; IsoId=P06748-2; Sequence=VSP_003616; Name=3; IsoId=P06748-3; Sequence=VSP_043599; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:19208757, ECO:0000269|PubMed:22528486, ECO:0000269|PubMed:25818168, ECO:0000269|PubMed:25956029}. Nucleus, nucleoplasm {ECO:0000269|PubMed:25818168}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Note=Generally nucleolar, but is translocated to the nucleoplasm in case of serum starvation or treatment with anticancer drugs. Has been found in the cytoplasm in patients with primary acute myelogenous leukemia (AML), but not with secondary AML. Can shuttle between cytoplasm and nucleus. Co- localizes with the methylated form of RPS10 in the granular component (GC) region of the nucleolus. Colocalized with nucleolin and APEX1 in nucleoli. Isoform 1 of NEK2 is required for its localization to the centrosome during mitosis.


uniprotID: Q6UXI9
geneSymbol: NPNT
name: Nephronectin (Preosteoblast EGF-like repeat protein with MAM domain) (Protein EGFL6-like)
length: 565
go: ENSG00000168743;
snps: rs35132891 rs4340795 rs35613262 rs35488797
sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integrin alpha8-beta1 complex [GO:0034678]; smooth muscle contractile fiber [GO:0030485]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; integrin binding [GO:0005178]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell-cell adhesion mediated by integrin [GO:0033631]; cell-matrix adhesion [GO:0007160]; cellular response to tumor necrosis factor [GO:0071356]; establishment of protein localization [GO:0045184]; extracellular matrix organization [GO:0030198]; pilomotor reflex [GO:0097195]; positive regulation of alkaline phosphatase activity [GO:0010694]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation [GO:2000721]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; ureteric bud development [GO:0001657]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6UXI9-1; Sequence=Displayed; Name=2; IsoId=Q6UXI9-2; Sequence=VSP_026987, VSP_026988; Note=No experimental confirmation available.; Name=3; IsoId=Q6UXI9-3; Sequence=VSP_045813; Note=No experimental confirmation available.; Name=4; IsoId=Q6UXI9-4; Sequence=VSP_045813, VSP_026987; Note=No experimental confirmation available.; Name=5; IsoId=Q6UXI9-5; Sequence=VSP_026987; Note=No experimental confirmation available.; Name=6; IsoId=Q6UXI9-6; Sequence=VSP_046131; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Trapped on the cell surface or in the extracellular matrix. {ECO:0000250}.


uniprotID: Q8WTW4
geneSymbol: NPRL2
pdb: 6CES;6CET;
length: 380
go: ENSG00000114388;
snps: rs886037965 rs745518585 rs149128231
name:
GATOR complex protein NPRL2 (Gene 21 protein) (G21 protein) (Nitrogen permease regulator 2-like protein) (NPR2-like protein) (Tumor suppressor candidate 4)

sequence:

opentargets:
GATOR1 complex [GO:1990130]; lysosomal membrane [GO:0005765]; GTPase activator activity [GO:0005096]; protein kinase activity [GO:0004672]; cellular response to amino acid starvation [GO:0034198]; cellular response to nitrogen starvation [GO:0006995]; negative regulation of kinase activity [GO:0033673]; negative regulation of TOR signaling [GO:0032007]; positive regulation of autophagy [GO:0010508]; regulation of autophagosome assembly [GO:2000785]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WTW4-1; Sequence=Displayed; Name=2; IsoId=Q8WTW4-2; Sequence=VSP_010329, VSP_010330, VSP_010331; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269|PubMed:28199306}.


uniprotID: Q12980
geneSymbol: NPRL3
pdb: 6CES;6CET;
length: 569
go: ENSG00000103148;
snps: rs367729589 rs200041907
name:
GATOR complex protein NPRL3 (-14 gene protein) (Alpha-globin regulatory element-containing gene protein) (Nitrogen permease regulator 3-like protein) (Protein CGTHBA)

sequence:

opentargets:
GATOR1 complex [GO:1990130]; lysosomal membrane [GO:0005765]; GTPase activator activity [GO:0005096]; aorta morphogenesis [GO:0035909]; cardiac muscle tissue development [GO:0048738]; cellular response to amino acid starvation [GO:0034198]; negative regulation of TOR signaling [GO:0032007]; regulation of autophagosome assembly [GO:2000785]; roof of mouth development [GO:0060021]; TORC1 signaling [GO:0038202]; ventricular septum development [GO:0003281]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269|PubMed:28199306}.


uniprotID: Q9UFN0
geneSymbol: NIPSNAP3A
length: 247
go: ENSG00000136783;
opentargets: cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]
snps: rs2274870
name:
Protein NipSnap homolog 3A (NipSnap3A) (Protein NipSnap homolog 4) (NipSnap4) (Target for Salmonella secreted protein C) (TassC)

sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12427096}. Note=May be part of some vesicular structure distinct from lysosomal vesicles.


uniprotID: Q9BS92
geneSymbol: NIPSNAP3B
name: Protein NipSnap homolog 3B (NipSnap3B) (SNAP1)
length: 247
go: ENSG00000165028;
opentargets: mitochondrion [GO:0005739]
snps: rs10761084 rs3739740 rs3739741
sequence:


uniprotID: Q6W5P4
geneSymbol: NPSR1
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418555;
length: 371
go: ENSG00000187258;
drug: DB01159;
snps: rs324981 rs35436513 rs325465 rs34705969 rs35537374 rs727162 rs10270766 rs6972158
name:
Neuropeptide S receptor (G-protein coupled receptor 154) (G-protein coupled receptor PGR14) (G-protein coupled receptor for asthma susceptibility)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; neuropeptide receptor activity [GO:0008188]; vasopressin receptor activity [GO:0005000]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Isoform A; IsoId=Q6W5P4-1; Sequence=Displayed; Name=2; Synonyms=Isoform F; IsoId=Q6W5P4-2; Sequence=VSP_016079; Name=3; Synonyms=Isoform G; IsoId=Q6W5P4-3; Sequence=VSP_016088; Name=4; Synonyms=Isoform B long form; IsoId=Q6W5P4-4; Sequence=VSP_016089; Name=5; Synonyms=Isoform B short form; IsoId=Q6W5P4-5; Sequence=VSP_016078, VSP_016089; Name=6; Synonyms=Isoform D; IsoId=Q6W5P4-6; Sequence=VSP_016080, VSP_016087; Name=7; Synonyms=Isoform E; IsoId=Q6W5P4-7; Sequence=VSP_016083, VSP_016085; Name=8; IsoId=Q6W5P4-8; Sequence=VSP_016084, VSP_016086; Note=No experimental confirmation available.; Name=9; Synonyms=Isoform C; IsoId=Q6W5P4-9; Sequence=VSP_016081, VSP_016082; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:15947423, ECO:0000269|PubMed:16790440}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000269|PubMed:15947423}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000269|PubMed:15947423}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:15947423}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:15947423}.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm {ECO:0000269|PubMed:15947423}.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm {ECO:0000269|PubMed:15947423}.; SUBCELLULAR LOCATION: Isoform 9: Cytoplasm {ECO:0000269|PubMed:15947423}.


uniprotID: P0C0P6
geneSymbol: NPS
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418555;
name: Neuropeptide S
sequence: MISSVKLNLILVLSLSTMHVFWCYPVPSSKVSGKSDYFLILLNSCPTRLDRSKELAFLKPILEKMFVKRSFRNGVGTGMKKTSFQRAKS
length: 89
go: ENSG00000214285;
snps: rs990310 rs4751440
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; positive regulation of action potential [GO:0045760]; positive regulation of circadian sleep/wake cycle, wakefulness [GO:0010841]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; visual learning [GO:0008542]


uniprotID: Q14916
geneSymbol: SLC17A1
reactome: R-HSA-428643;
length: 467
go: ENSG00000124568;
snps: rs6933573 rs1165196
name:
Sodium-dependent phosphate transport protein 1 (Na(+)/PI cotransporter 1) (Na/Pi-4) (Renal Na(+)-dependent phosphate cotransporter 1) (Renal sodium-dependent phosphate transport protein 1) (Renal sodium-phosphate transport protein 1) (Sodium/phosphate cotransporter 1) (Solute carrier family 17 member 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; membrane [GO:0016020]; plasma membrane [GO:0005886]; sialic acid transmembrane transporter activity [GO:0015136]; sodium-dependent phosphate transmembrane transporter activity [GO:0015321]; symporter activity [GO:0015293]; ion transport [GO:0006811]; phosphate ion transport [GO:0006817]; sialic acid transport [GO:0015739]; sodium ion transport [GO:0006814]; urate metabolic process [GO:0046415]; urate transport [GO:0015747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14916-1; Sequence=Displayed; Name=2; IsoId=Q14916-2; Sequence=VSP_035012; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:27906618}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q06495
geneSymbol: SLC34A1
reactome: R-HSA-427589;R-HSA-5619040;R-HSA-5683826;
length: 639
go: ENSG00000131183;
snps: rs121918610 rs121918611 rs769409705 rs769409705 rs369770760 rs577273266 rs876661338 rs140649226
name:
Sodium-dependent phosphate transport protein 2A (Sodium-phosphate transport protein 2A) (Na(+)-dependent phosphate cotransporter 2A) (NaPi-3) (Sodium/phosphate cotransporter 2A) (Na(+)/Pi cotransporter 2A) (NaPi-2a) (Solute carrier family 34 member 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; mitotic spindle [GO:0072686]; nuclear speck [GO:0016607]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; PDZ domain binding [GO:0030165]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; sodium-dependent phosphate transmembrane transporter activity [GO:0015321]; sodium:phosphate symporter activity [GO:0005436]; arsenate ion transmembrane transport [GO:1901684]; cellular phosphate ion homeostasis [GO:0030643]; cellular protein metabolic process [GO:0044267]; cellular response to metal ion [GO:0071248]; cellular response to parathyroid hormone stimulus [GO:0071374]; cellular response to staurosporine [GO:0072734]; dentinogenesis [GO:0097187]; gentamycin metabolic process [GO:1901128]; glycoprotein metabolic process [GO:0009100]; indole metabolic process [GO:0042431]; kidney development [GO:0001822]; ossification [GO:0001503]; phosphate ion homeostasis [GO:0055062]; phosphate ion transport [GO:0006817]; positive regulation of membrane potential [GO:0045838]; positive regulation of phosphate transmembrane transport [GO:2000187]; positive regulation of sodium-dependent phosphate transport [GO:2000120]; protein homooligomerization [GO:0051260]; response to cadmium ion [GO:0046686]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to growth hormone [GO:0060416]; response to lead ion [GO:0010288]; response to magnesium ion [GO:0032026]; response to mercury ion [GO:0046689]; response to potassium ion [GO:0035864]; response to thyroid hormone [GO:0097066]; response to vitamin A [GO:0033189]; sodium ion import across plasma membrane [GO:0098719]; sodium-dependent phosphate transport [GO:0044341]; tricarboxylic acid metabolic process [GO:0072350]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q06495-1; Sequence=Displayed; Name=2; IsoId=Q06495-2; Sequence=VSP_042311; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:26047794}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O95436
geneSymbol: SLC34A2
reactome: R-HSA-427589;R-HSA-5619045;R-HSA-5683826;R-HSA-5687583;
length: 690
go: ENSG00000157765;
snps: rs35426730 rs137853142 rs6448389
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium-dependent phosphate transport protein 2B (Sodium-phosphate transport protein 2B) (Na(+)-dependent phosphate cotransporter 2B) (NaPi3b) (Sodium/phosphate cotransporter 2B) (Na(+)/Pi cotransporter 2B) (NaPi-2b) (Solute carrier family 34 member 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; brush border membrane [GO:0031526]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; phosphate ion binding [GO:0042301]; sodium ion binding [GO:0031402]; sodium-dependent phosphate transmembrane transporter activity [GO:0015321]; sodium:phosphate symporter activity [GO:0005436]; cellular phosphate ion homeostasis [GO:0030643]; cellular protein metabolic process [GO:0044267]; in utero embryonic development [GO:0001701]; phosphate ion transport [GO:0006817]; response to estrogen [GO:0043627]; sodium-dependent phosphate transport [GO:0044341]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=NaPi-3b; IsoId=O95436-1; Sequence=Displayed; Name=2; Synonyms=NaPi-2b, NaPi-IIb; IsoId=O95436-2; Sequence=VSP_016755; 


uniprotID: Q8N130
geneSymbol: SLC34A3
reactome: R-HSA-427589;R-HSA-5619097;
length: 599
go: ENSG00000198569;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium-dependent phosphate transport protein 2C (Sodium-phosphate transport protein 2C) (Na(+)-dependent phosphate cotransporter 2C) (Sodium/inorganic phosphate cotransporter IIC) (Sodium/phosphate cotransporter 2C) (Na(+)/Pi cotransporter 2C) (NaPi-2c) (Solute carrier family 34 member 3)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; brush border membrane [GO:0031526]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; sodium-dependent phosphate transmembrane transporter activity [GO:0015321]; sodium:phosphate symporter activity [GO:0005436]; cellular phosphate ion homeostasis [GO:0030643]; phosphate ion transport [GO:0006817]; sodium ion transport [GO:0006814]; sodium-dependent phosphate transport [GO:0044341]

snps:
rs34372115 rs141734934 rs35643193 rs199690076 rs121918237 rs145877051 rs35699762 rs121918234 rs121918235 rs121918238 rs28542318 


uniprotID: O00624
geneSymbol: SLC17A2
length: 439
go: ENSG00000112337;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium-dependent phosphate transport protein 3 (Na(+)/PI cotransporter 3) (Sodium/phosphate cotransporter 3) (Solute carrier family 17 member 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; membrane [GO:0016020]; sialic acid transmembrane transporter activity [GO:0015136]; sodium:phosphate symporter activity [GO:0005436]; phosphate-containing compound metabolic process [GO:0006796]; sialic acid transport [GO:0015739]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00624-1; Sequence=Displayed; Name=2; IsoId=O00624-2; Sequence=VSP_020638; Name=3; IsoId=O00624-3; Sequence=VSP_054712; Note=No experimental confirmation available.; 


uniprotID: O00476
geneSymbol: SLC17A3
reactome: R-HSA-2672351;
length: 420
go: ENSG00000124564;
snps: rs387907257 rs1165165 rs56027330 rs387907256 rs11966370
name:
Sodium-dependent phosphate transport protein 4 (Na(+)/PI cotransporter 4) (Sodium/phosphate cotransporter 4) (Solute carrier family 17 member 3)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; drug transmembrane transporter activity [GO:0015238]; efflux transmembrane transporter activity [GO:0015562]; organic anion transmembrane transporter activity [GO:0008514]; sialic acid transmembrane transporter activity [GO:0015136]; sodium:phosphate symporter activity [GO:0005436]; toxin transmembrane transporter activity [GO:0019534]; urate transmembrane transporter activity [GO:0015143]; voltage-gated anion channel activity [GO:0008308]; drug transport [GO:0015893]; glucose-6-phosphate transport [GO:0015760]; ion transmembrane transport [GO:0034220]; organic anion transport [GO:0015711]; phosphate ion transport [GO:0006817]; sialic acid transport [GO:0015739]; sodium ion transport [GO:0006814]; urate metabolic process [GO:0046415]; urate transport [GO:0015747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00476-1; Sequence=Displayed; Name=2; IsoId=O00476-2; Sequence=VSP_042888; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15505377}; Multi-pass membrane protein {ECO:0000269|PubMed:15505377}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:20810651}; Multi-pass membrane protein {ECO:0000269|PubMed:20810651}.


uniprotID: Q9Y639
geneSymbol: NPTN
reactome: R-HSA-112314;
pdb: 6A69;
name: Neuroplastin (Stromal cell-derived receptor 1) (SDR-1)
length: 398
go: ENSG00000156642;
sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; dendrite [GO:0030425]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; inhibitory synapse [GO:0060077]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic active zone membrane [GO:0099059]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; Schaffer collateral - CA1 synapse [GO:0098685]; cell adhesion molecule binding [GO:0050839]; cell-cell adhesion mediator activity [GO:0098632]; ion channel binding [GO:0044325]; type 1 fibroblast growth factor receptor binding [GO:0005105]; axon guidance [GO:0007411]; dendrite self-avoidance [GO:0070593]; excitatory synapse assembly [GO:1904861]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; long-term synaptic potentiation [GO:0060291]; positive regulation of cellular protein localization [GO:1903829]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; positive regulation of long-term neuronal synaptic plasticity [GO:0048170]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein phosphorylation [GO:0001934]; regulation of receptor localization to synapse [GO:1902683]; trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission [GO:0099557]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; Synonyms=SDR-1-beta; IsoId=Q9Y639-2; Sequence=Displayed; Name=1; Synonyms=SDR-1-alpha; IsoId=Q9Y639-1; Sequence=VSP_039251; Name=3; IsoId=Q9Y639-3; Sequence=VSP_039251, VSP_039253; Name=4; IsoId=Q9Y639-4; Sequence=VSP_039252; Note=No experimental confirmation available.; Name=5; IsoId=Q9Y639-5; Sequence=VSP_039253; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Enriched at postsynaptic density. {ECO:0000250}.


uniprotID: Q15818
geneSymbol: NPTX1
name: Neuronal pentraxin-1 (NP1) (Neuronal pentraxin I) (NP-I)
length: 432
go: ENSG00000171246;
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle {ECO:0000305}.
sequence:

opentargets:
glutamatergic synapse [GO:0098978]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; metal ion binding [GO:0046872]; axonogenesis involved in innervation [GO:0060385]; central nervous system development [GO:0007417]; chemical synaptic transmission [GO:0007268]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]


uniprotID: P47972
geneSymbol: NPTX2
name: Neuronal pentraxin-2 (NP2) (Neuronal pentraxin II) (NP-II)
length: 431
go: ENSG00000106236;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; dendrite [GO:0030425]; extracellular region [GO:0005576]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; associative learning [GO:0008306]; chemical synaptic transmission [GO:0007268]; neuron projection development [GO:0031175]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]


uniprotID: O95502
geneSymbol: NPTXR
name: Neuronal pentraxin receptor
length: 500
go: ENSG00000221890;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; dendrite [GO:0030425]; filopodium [GO:0030175]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; neuron projection development [GO:0031175]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]


uniprotID: Q9HCQ7
geneSymbol: NPVF
length: 196
snps: rs886354 rs877834 rs3213641
location: SUBCELLULAR LOCATION: Secreted.
name:
Pro-FMRFamide-related neuropeptide VF [Cleaved into: Neuropeptide NPSF; Neuropeptide RFRP-1; Neuropeptide RFRP-2; Neuropeptide NPVF (Neuropeptide RFRP-3)]

sequence:
MEIISSKLFILLTLATSSLLTSNIFCADELVISNLHSKENYDKYSEPRGYPKGERSLNFEELKDWGPKNVIKMSTPAVNKMPHSFANLPLRFGRNVQEERSAGATANLPLRSGRNMEVSLVRRVPNLPQRFGRTTTAKSVCRMLSDLCQGSMHSPCANDLFYSMTCQHQEIQNPDQKQSRRLLFKKIDDAELKQEK

opentargets:
extracellular region [GO:0005576]; negative regulation of gonadotropin secretion [GO:0032277]; neuropeptide signaling pathway [GO:0007218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCQ7-1; Sequence=Displayed; Name=2; IsoId=Q9HCQ7-2; Sequence=VSP_039962; 


uniprotID: Q8N729
geneSymbol: NPW
reactome: R-HSA-375276;R-HSA-418594;
length: 165
go: ENSG00000183971;
snps: rs2286472
location: SUBCELLULAR LOCATION: Secreted.
name:
Neuropeptide W (Preproprotein L8) (hPPL8) [Cleaved into: Neuropeptide W-23 (NPW23) (hL8); Neuropeptide W-30 (NPW30) (hL8C)]

sequence:
MAWRPGERGAPASRPRLALLLLLLLLPLPSGAWYKHVASPRYHTVGRAAGLLMGLRRSPYLWRRALRAAAGPLARDTLSPEPAAREAPLLLPSWVQELWETRRRSSQAGIPVRAPRSPRAPEPALEPESLDFSGAGQRLRRDVSRPAVDPAANRLGLPCLAPGPF

opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]


uniprotID: P25929
geneSymbol: NPY1R
reactome: R-HSA-375276;R-HSA-418594;
pdb: 2F1U;2IIL;5ZBQ;
name: Neuropeptide Y receptor type 1 (NPY1-R)
length: 384
go: ENSG00000164128;
drug: DB05004;
snps: rs5578
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; neuropeptide Y receptor activity [GO:0004983]; pancreatic polypeptide receptor activity [GO:0001602]; peptide YY receptor activity [GO:0001601]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; glucose metabolic process [GO:0006006]; locomotory behavior [GO:0007626]; outflow tract morphogenesis [GO:0003151]; regulation of blood pressure [GO:0008217]; regulation of multicellular organism growth [GO:0040014]; sensory perception of pain [GO:0019233]


uniprotID: P49146
geneSymbol: NPY2R
reactome: R-HSA-375276;R-HSA-418594;
pdb: 2IK3;
name: Neuropeptide Y receptor type 2 (NPY2-R) (NPY-Y2 receptor) (Y2 receptor)
length: 381
go: ENSG00000185149;
drug: DB05004;DB00847;DB05045;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; calcium channel regulator activity [GO:0005246]; neuropeptide Y receptor activity [GO:0004983]; peptide YY receptor activity [GO:0001601]; signaling receptor activity [GO:0038023]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; aging [GO:0007568]; behavioral fear response [GO:0001662]; cardiac left ventricle morphogenesis [GO:0003214]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of excitatory postsynaptic potential [GO:0090394]; negative regulation of feeding behavior [GO:2000252]; negative regulation of secretion [GO:0051048]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; nitric oxide mediated signal transduction [GO:0007263]; outflow tract morphogenesis [GO:0003151]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of circadian sleep/wake cycle, non-REM sleep [GO:0046010]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of dopamine secretion [GO:0033603]; positive regulation of peptide secretion [GO:0002793]; positive regulation of smooth muscle contraction [GO:0045987]; regulation of sensory perception of pain [GO:0051930]; secretion [GO:0046903]


uniprotID: P50391
geneSymbol: NPY4R
reactome: R-HSA-375276;R-HSA-418594;
pdb: 2IK5;
name: Neuropeptide Y receptor type 4 (NPY4-R) (Pancreatic polypeptide receptor 1) (PP1)
length: 375
drug: DB05004;DB05045;
snps: rs2229967 rs3824733
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; pancreatic polypeptide receptor activity [GO:0001602]; peptide hormone binding [GO:0017046]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q15761
geneSymbol: NPY5R
reactome: R-HSA-375276;R-HSA-418594;
pdb: 2HE6;
name: Neuropeptide Y receptor type 5 (NPY5-R) (NPY-Y5 receptor) (NPYY5-R) (Y5 receptor)
length: 445
go: ENSG00000164129;
drug: DB05004;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; neuropeptide Y receptor activity [GO:0004983]; pancreatic polypeptide receptor activity [GO:0001602]; peptide YY receptor activity [GO:0001601]; aging [GO:0007568]; cardiac left ventricle morphogenesis [GO:0003214]; chemical synaptic transmission [GO:0007268]; eating behavior [GO:0042755]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of ovulation cycle rhythm [GO:0060112]; negative regulation of acute inflammatory response to antigenic stimulus [GO:0002865]; negative regulation of apoptotic process [GO:0043066]; negative regulation of glutamate secretion [GO:0014050]; negative regulation of synaptic transmission, GABAergic [GO:0032229]; outflow tract morphogenesis [GO:0003151]; positive regulation of acute inflammatory response [GO:0002675]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of smooth muscle cell proliferation [GO:0048661]


uniprotID: Q99463
geneSymbol: NPY6R
length: 290
opentargets: integral component of membrane [GO:0016021]; pancreatic polypeptide receptor activity [GO:0001602]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Putative neuropeptide Y receptor type 6 (NPY6-R) (NPY Y1-like receptor) (Putative pancreatic polypeptide receptor 2) (PP2)

sequence:


uniprotID: P01303
geneSymbol: NPY
reactome: R-HSA-375276;R-HSA-418594;
pdb: 1QFA;1RON;
sequence: MLGNKRLGLSGLTLALSLLVCLGALAEAYPSKPDNPGEDAPAEDMARYYSALRHYINLITRQRYGKRSSPETLISDLLMRESTENVPRTRLEDPAMW
length: 97
go: ENSG00000122585;
drug: DB02952;DB03380;
snps: rs16139 rs5571
location: SUBCELLULAR LOCATION: Secreted.
name:
Pro-neuropeptide Y [Cleaved into: Neuropeptide Y (Neuropeptide tyrosine) (NPY); C-flanking peptide of NPY (CPON)]

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; calcium channel regulator activity [GO:0005246]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor binding [GO:0001664]; neuropeptide hormone activity [GO:0005184]; neuropeptide Y receptor binding [GO:0031841]; signaling receptor binding [GO:0005102]; adult feeding behavior [GO:0008343]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; calcium ion transport [GO:0006816]; cell proliferation [GO:0008283]; central nervous system neuron development [GO:0021954]; cerebral cortex development [GO:0021987]; chemical synaptic transmission [GO:0007268]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; innate immune response [GO:0045087]; neuron projection development [GO:0031175]; neuropeptide signaling pathway [GO:0007218]; positive regulation of appetite [GO:0032100]; regulation of blood pressure [GO:0008217]; response to yeast [GO:0001878]


uniprotID: O60500
geneSymbol: NPHS1
reactome: R-HSA-373753;
pdb: 4ZRT;
name: Nephrin (Renal glomerulus-specific cell adhesion receptor)
length: 1241
go: ENSG00000161270;
sequence:

opentargets:
cell projection [GO:0042995]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; slit diaphragm [GO:0036057]; myosin binding [GO:0017022]; cell adhesion [GO:0007155]; excretion [GO:0007588]; glomerular basement membrane development [GO:0032836]; glomerular visceral epithelial cell development [GO:0072015]; JNK cascade [GO:0007254]; myoblast fusion [GO:0007520]; positive regulation of actin filament polymerization [GO:0030838]; protein localization to synapse [GO:0035418]; regulation of excretion [GO:0044062]; skeletal muscle tissue development [GO:0007519]

snps:
rs386833897 rs386833929 rs386833933 rs386833934 rs3814995 rs386833945 rs386833946 rs386833949 rs145125791 rs139598219 rs35238405 rs373835033 rs386833960 rs34982899 rs267606917 rs386833961 rs113825926 rs753476209 rs386833861 rs386833862 rs386833863 rs386833864 rs386833865 rs386833867 rs386833866 rs386833868 rs386833871 rs34320609 rs386833874 rs33950747 rs142008044 rs386833875 rs386833879 rs28939695 rs386833880 rs386833881 rs386833884 rs386833885 rs386833886 rs386833888 rs386833889 rs386833890 rs730880174 rs386833892 rs367976914 rs386833894 rs764058957 rs386833895 rs191807913 rs386833900 rs386833902 rs926025297 rs386833905 rs1131692245 rs386833907 rs386833908 rs386833909 rs114203578 rs386833911 rs386833912 rs387906357 rs267606918 rs386833915 rs386833916 rs386833917 rs143649022 rs763162233 rs138656762 rs34736717 rs367986918 rs749003854 rs4806213 rs143092783 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60500-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=O60500-2; Sequence=VSP_002598; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. {ECO:0000269|PubMed:10393930, ECO:0000269|PubMed:10550324}.


uniprotID: F8WFD2
geneSymbol: NPIPA3
name: Nuclear pore complex-interacting protein family member A3
length: 350
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: P09238
geneSymbol: MMP10
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;
pdb: 1Q3A;3V96;4ILW;
name: Stromelysin-2 (SL-2) (EC 3.4.24.22) (Matrix metalloproteinase-10) (MMP-10) (Transin-2)
length: 476
go: ENSG00000166670;
drug: DB00786;DB08271;
snps: rs17435959 rs486055 rs17293607 rs17860971 rs17860973 rs17860996 rs17861009
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; proteolysis [GO:0006508]


uniprotID: Q9Y303
geneSymbol: AMDHD2
reactome: R-HSA-446210;
length: 409
go: ENSG00000162066;
snps: rs1220386463
name:
N-acetylglucosamine-6-phosphate deacetylase (GlcNAc 6-P deacetylase) (EC 3.5.1.25) (Amidohydrolase domain-containing protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; N-acetylgalactosamine-6-phosphate deacetylase activity [GO:0047419]; N-acetylglucosamine-6-phosphate deacetylase activity [GO:0008448]; carbohydrate metabolic process [GO:0005975]; N-acetylglucosamine catabolic process [GO:0006046]; N-acetylneuraminate catabolic process [GO:0019262]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y303-1; Sequence=Displayed; Name=2; IsoId=Q9Y303-2; Sequence=VSP_030698; Name=3; IsoId=Q9Y303-3; Sequence=VSP_030698, VSP_038782; 


uniprotID: Q70IA6
geneSymbol: MOB2
name: MOB kinase activator 2 (HCCA2) (Mob2 homolog) (Mps one binder kinase activator-like 2)
length: 237
go: ENSG00000182208;
sequence:

opentargets:
cytosol [GO:0005829]; neuron projection terminus [GO:0044306]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; actin cytoskeleton organization [GO:0030036]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein phosphorylation [GO:0001934]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q70IA6-1; Sequence=Displayed; Name=2; IsoId=Q70IA6-2; Sequence=VSP_012298, VSP_012299; Note=No experimental confirmation available.; Name=3; IsoId=Q70IA6-3; Sequence=VSP_044472; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15067004}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15067004}.


uniprotID: Q9HCE1
geneSymbol: MOV10
name: Putative helicase MOV-10 (EC 3.6.4.13) (Armitage homolog) (Moloney leukemia virus 10 protein)
length: 1003
go: ENSG00000155363;
location: SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16289642}.
reactome:
R-HSA-1912408;R-HSA-2559580;R-HSA-2559585;R-HSA-4086398;R-HSA-5628897;R-HSA-5687128;R-HSA-8934593;R-HSA-8936459;R-HSA-8943723;R-HSA-8948700;R-HSA-9018519;

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleus [GO:0005634]; P granule [GO:0043186]; P-body [GO:0000932]; ATP binding [GO:0005524]; ATP-dependent 5'-3' RNA helicase activity [GO:0032575]; RNA binding [GO:0003723]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; gene silencing by miRNA [GO:0035195]; mRNA cleavage involved in gene silencing by miRNA [GO:0035279]; negative regulation of gene expression [GO:0010629]; negative regulation of transposition, RNA-mediated [GO:0010526]; positive regulation of gene expression [GO:0010628]; positive regulation of mRNA catabolic process [GO:0061014]; posttranscriptional gene silencing by RNA [GO:0035194]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of neuron projection arborization [GO:0150011]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HCE1-1; Sequence=Displayed; Name=2; IsoId=Q9HCE1-2; Sequence=VSP_010943, VSP_010944; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCE1-3; Sequence=VSP_037305, VSP_037306; 


uniprotID: P41218
geneSymbol: MNDA
reactome: R-HSA-6798695;
pdb: 2DBG;5H7Q;5WPZ;
name: Myeloid cell nuclear differentiation antigen
length: 407
go: ENSG00000163563;
snps: rs35417083 rs1056771 rs2276403
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; B cell receptor signaling pathway [GO:0050853]; cellular defense response [GO:0006968]; cellular response to DNA damage stimulus [GO:0006974]; negative regulation of B cell proliferation [GO:0030889]; neutrophil degranulation [GO:0043312]; positive regulation of apoptotic process [GO:0043065]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Uniformly distributed throughout the interphase cell nucleus. Associates with chromatin.


uniprotID: P09237
geneSymbol: MMP7
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-2022090;
pdb: 1MMP;1MMQ;1MMR;2DDY;2MZE;2MZH;2MZI;2Y6C;2Y6D;5UE2;5UE5;
length: 267
go: ENSG00000137673;
drug: DB00786;
snps: rs10502001 rs17884789 rs17886506
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}.
name:
Matrilysin (EC 3.4.24.23) (Matrin) (Matrix metalloproteinase-7) (MMP-7) (Pump-1 protease) (Uterine metalloproteinase)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; heparin binding [GO:0008201]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; aging [GO:0007568]; antibacterial peptide secretion [GO:0002779]; cellular response to mechanical stimulus [GO:0071260]; collagen catabolic process [GO:0030574]; estrous cycle [GO:0044849]; extracellular matrix disassembly [GO:0022617]; maternal process involved in female pregnancy [GO:0060135]; proteolysis [GO:0006508]; response to nutrient levels [GO:0031667]


uniprotID: Q02252
geneSymbol: ALDH6A1
reactome: R-HSA-70895;
length: 535
go: ENSG00000119711;
drug: DB00157;
snps: rs72552258
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) (Malonate-semialdehyde dehydrogenase [acylating]) (EC 1.2.1.18) (EC 1.2.1.27) (Aldehyde dehydrogenase family 6 member A1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; fatty-acyl-CoA binding [GO:0000062]; malonate-semialdehyde dehydrogenase (acetylating) activity [GO:0018478]; methylmalonate-semialdehyde dehydrogenase (acylating) activity [GO:0004491]; RNA binding [GO:0003723]; branched-chain amino acid catabolic process [GO:0009083]; brown fat cell differentiation [GO:0050873]; thymine catabolic process [GO:0006210]; thymine metabolic process [GO:0019859]; valine catabolic process [GO:0006574]; valine metabolic process [GO:0006573]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02252-1; Sequence=Displayed; Name=2; IsoId=Q02252-2; Sequence=VSP_055067; 


uniprotID: Q96T76
geneSymbol: MMS19
reactome: R-HSA-2564830;
name: MMS19 nucleotide excision repair protein homolog (hMMS19) (MET18 homolog) (MMS19-like protein)
length: 1030
go: ENSG00000155229;
sequence:

opentargets:
CIA complex [GO:0097361]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; MMXD complex [GO:0071817]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; transcription factor TFIIH holo complex [GO:0005675]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; protein binding, bridging [GO:0030674]; receptor signaling complex scaffold activity [GO:0030159]; transcription coactivator activity [GO:0003713]; cellular response to DNA damage stimulus [GO:0006974]; chromosome segregation [GO:0007059]; DNA metabolic process [GO:0006259]; DNA repair [GO:0006281]; iron-sulfur cluster assembly [GO:0016226]; nucleotide-excision repair [GO:0006289]; phosphorelay signal transduction system [GO:0000160]; positive regulation of double-strand break repair via homologous recombination [GO:1905168]; positive regulation of transcription, DNA-templated [GO:0045893]; protein maturation by iron-sulfur cluster transfer [GO:0097428]; response to hormone [GO:0009725]; transcription, DNA-templated [GO:0006351]

snps:
rs2275586 rs29001280 rs29001285 rs29001306 rs29001309 rs29001311 rs29001314 rs17112809 rs12360068 rs3740526 rs29001332 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96T76-1; Sequence=Displayed; Name=2; IsoId=Q96T76-7; Sequence=VSP_040312, VSP_040313; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q96T76-6; Sequence=VSP_040310, VSP_040311; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q96T76-5; Sequence=VSP_015565; Note=No experimental confirmation available.; Name=5; IsoId=Q96T76-8; Sequence=VSP_044182; Note=No experimental confirmation available.; Name=6; IsoId=Q96T76-9; Sequence=VSP_044183; Note=No experimental confirmation available.; 

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


uniprotID: Q13875
geneSymbol: MOBP
name: Myelin-associated oligodendrocyte basic protein
length: 183
go: ENSG00000168314;
sequence:
MSQKPAKEGPRLSKNQKYSEHFSIHCCPPFTFLNSKKEIVDRKYSICKSGCFYQKKEEDWICCACQKTRTSRRAKSPQRPKQQPAAPPAVVRAPAKPRSPPRSERQPRSPPRSERQPRSPPRSERQPRSPPRSERQPRPRPEVRPPPAKQRPPQKSKQQPRSSPLRGPGASRGGSPVKASRFW

opentargets:
cortical actin cytoskeleton [GO:0030864]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; perinuclear region of cytoplasm [GO:0048471]; actin binding [GO:0003779]; myosin binding [GO:0017022]; Rab GTPase binding [GO:0017137]; structural constituent of myelin sheath [GO:0019911]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=OPRP2; IsoId=Q13875-1; Sequence=Displayed; Name=2; Synonyms=OPRP1; IsoId=Q13875-2; Sequence=VSP_023935; Name=3; IsoId=Q13875-3; Sequence=VSP_023933, VSP_023934; Note=No experimental confirmation available.; Name=4; IsoId=Q13875-4; Sequence=VSP_055152, VSP_023935; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Note=Present in the major dense line of CNS myelin. {ECO:0000250}.


uniprotID: Q96BX8
geneSymbol: MOB3A
name: MOB kinase activator 3A (MOB-LAK) (Mob1 homolog 2A) (Mps one binder kinase activator-like 2A)
length: 217
go: ENSG00000172081;
opentargets: intracellular [GO:0005622]; metal ion binding [GO:0046872]
sequence:


uniprotID: A0A0C5B5G6
geneSymbol: MT-RNR1
name: Mitochondrial-derived peptide MOTS-c (Mitochondrial open reading frame of the 12S rRNA-c)
sequence: MRWQEMGYIFYPRKLR
length: 16
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25738459}.
opentargets:
extracellular space [GO:0005615]; activation of protein kinase activity [GO:0032147]; purine-containing compound biosynthetic process [GO:0072522]; regulation of carbohydrate utilization [GO:0043610]


uniprotID: Q3SYC2
geneSymbol: MOGAT2
reactome: R-HSA-75109;
length: 334
go: ENSG00000166391;
snps: rs554202 rs34582952 rs12281468
name:
2-acylglycerol O-acyltransferase 2 (EC 2.3.1.22) (Acyl-CoA:monoacylglycerol acyltransferase 2) (MGAT2) (hMGAT2) (Diacylglycerol O-acyltransferase candidate 5) (hDC5) (Diacylglycerol acyltransferase 2-like protein 5) (Monoacylglycerol O-acyltransferase 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 2-acylglycerol O-acyltransferase activity [GO:0003846]; acetyltransferase activity [GO:0016407]; diacylglycerol biosynthetic process [GO:0006651]; glycerol metabolic process [GO:0006071]; intestinal absorption [GO:0050892]; triglyceride biosynthetic process [GO:0019432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3SYC2-1; Sequence=Displayed; Name=2; IsoId=Q3SYC2-2; Sequence=VSP_020358; Note=No experimental confirmation available.; Name=3; Synonyms=MGAT2V, Trunc; IsoId=Q3SYC2-3; Sequence=VSP_020359, VSP_020360; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12621063}; Multi-pass membrane protein {ECO:0000269|PubMed:12621063}.


uniprotID: P0DKB6
geneSymbol: MPC1L
name: Mitochondrial pyruvate carrier 1-like protein
length: 136
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MARMAVLWRKMRDNFQSKEFREYVSSTHFWGPAFSWGLPLAAFKDMKASPEIISGRMTTALILYSAIFMRFAYRVQPRNLLLMACHCTNVMAQSVQASRYLLYYYGGGGAEAKARDPPATAAAATSPGSQPPKQAS

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; pyruvate transmembrane transporter activity [GO:0050833]; mitochondrial pyruvate transmembrane transport [GO:0006850]


uniprotID: O15375
geneSymbol: SLC16A5
length: 505
go: ENSG00000170190;
drug: DB00119;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Monocarboxylate transporter 6 (MCT 6) (Monocarboxylate transporter 5) (MCT 5) (Solute carrier family 16 member 5)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; monocarboxylic acid transport [GO:0015718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15375-1; Sequence=Displayed; Name=2; IsoId=O15375-2; Sequence=VSP_056660, VSP_056661; Note=No experimental confirmation available.; 


uniprotID: Q01658
geneSymbol: DR1
reactome: R-HSA-3214847;
pdb: 1JFI;
length: 176
go: ENSG00000117505;
snps: rs3088371
location: SUBCELLULAR LOCATION: Nucleus.
name:
Protein Dr1 (Down-regulator of transcription 1) (Negative cofactor 2-beta) (NC2-beta) (TATA-binding protein-associated phosphoprotein)

sequence:
MASSSGNDDDLTIPRAAINKMIKETLPNVRVANDARELVVNCCTEFIHLISSEANEICNKSEKKTISPEHVIQALESLGFGSYISEVKEVLQECKTVALKRRKASSRLENLGIPEEELLRQQQELFAKARQQQAELAQQEWLQMQQAAQQAQLAAASASASNQAGSSQDEEDDDDI

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; negative cofactor 2 complex [GO:0017054]; nucleus [GO:0005634]; core promoter binding [GO:0001047]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; TBP-class protein binding [GO:0017025]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; chromatin remodeling [GO:0006338]; histone H3 acetylation [GO:0043966]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045898]; RNA polymerase II preinitiation complex assembly [GO:0051123]


uniprotID: Q1L6U9
geneSymbol: MSMP
name: Prostate-associated microseminoprotein (PC3-secreted microprotein)
length: 139
go: ENSG00000215183;
opentargets: cytoplasm [GO:0005737]; extracellular space [GO:0005615]
snps: rs3750436
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17338636}.
sequence:
MALRMLWAGQAKGILGGWGIICLVMSLLLQHPGVYSKCYFQAQAPCHYEGKYFTLGESWLRKDCFHCTCLHPVGVGCCDTSQHPIDFPAGCEVRQEAGTCQFSLVQKSDPRLPCKGGGPDPEWGSANTPVPGAPAPHSS


uniprotID: O75200
geneSymbol: NPIPB7
length: 414
go: ENSG00000233232;
opentargets: extracellular region [GO:0005576]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Nuclear pore complex-interacting protein family member B7 (Nuclear pore complex-interacting protein-like 1)

sequence:


uniprotID: E9PQR5
geneSymbol: NPIPB8
name: Nuclear pore complex-interacting protein family member B8
length: 432
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: F8W1W9
geneSymbol: NPIPB9
name: Nuclear pore complex-interacting protein family member B9
length: 429
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: P60321
geneSymbol: NANOS2
name: Nanos homolog 2 (NOS-2)
length: 138
go: ENSG00000188425;
snps: rs148451980
sequence:
MQLPPFDMWKDYFNLSQVVWALIASRGQRLETQEIEEPSPGPPLGQDQGLGAPGANGGLGTLCNFCKHNGESRHVYSSHQLKTPDGVVVCPILRHYVCPVCGATGDQAHTLKYCPLNGGQQSLYRRSGRNSAGRRVKR

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P-body [GO:0000932]; perinuclear region of cytoplasm [GO:0048471]; mRNA binding [GO:0003729]; zinc ion binding [GO:0008270]; cell differentiation [GO:0030154]; germ-line stem cell population maintenance [GO:0030718]; mRNA catabolic process [GO:0006402]; multicellular organism development [GO:0007275]; negative regulation of meiotic nuclear division [GO:0045835]; negative regulation of translation [GO:0017148]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19168545}. Cytoplasm, P-body {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19168545}. Note=Localizes at P-bodies during gonocyte development (By similarity). More abundant in perinuclear region of the cytoplasm of the germ cells of the adult testis. {ECO:0000250}.


uniprotID: E9PJI5
geneSymbol: NPIPA7
name: Nuclear pore complex-interacting protein family member A7
length: 369
go: ENSG00000214940;ENSG00000214967;
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: Q8WXB1
geneSymbol: METTL21A
reactome: R-HSA-8876725;
pdb: 4LEC;
length: 218
go: ENSG00000144401;
snps: rs2551949
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23349634}.
name:
Protein N-lysine methyltransferase METTL21A (EC 2.1.1.-) (HSPA lysine methyltransferase) (HSPA-KMT) (Hepatocellular carcinoma-associated antigen 557b) (Methyltransferase-like protein 21A)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; ATPase binding [GO:0051117]; heat shock protein binding [GO:0031072]; Hsp70 protein binding [GO:0030544]; protein methyltransferase activity [GO:0008276]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine methylation [GO:0018022]; protein methylation [GO:0006479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXB1-1; Sequence=Displayed; Name=2; IsoId=Q8WXB1-2; Sequence=VSP_026379, VSP_026380; 


uniprotID: E9PJ23
geneSymbol: NPIPB6
name: Nuclear pore complex-interacting protein family member B6
length: 425
go: ENSG00000198156;
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: P52961
geneSymbol: ART1
reactome: R-HSA-1462054;
length: 327
go: ENSG00000129744;
drug: DB01854;
snps: rs35123761 rs35619488 rs2280134
location: SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane; Lipid-anchor, GPI-anchor.
name:
GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 (EC 2.4.2.31) (ADP-ribosyltransferase C2 and C3 toxin-like 1) (ARTC1) (Mono(ADP-ribosyl)transferase 1) (CD antigen CD296)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; plasma membrane [GO:0005886]; sarcoplasmic reticulum membrane [GO:0033017]; NAD(P)+-protein-arginine ADP-ribosyltransferase activity [GO:0003956]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; peptidyl-arginine ADP-ribosylation [GO:0018120]; protein ADP-ribosylation [GO:0006471]


uniprotID: Q13368
geneSymbol: MPP3
name: MAGUK p55 subfamily member 3 (Discs large homolog 3) (Protein MPP3)
length: 585
go: ENSG00000161647;
snps: rs17742683
sequence:


uniprotID: Q8N565
geneSymbol: MREG
name: Melanoregulin (Dilute suppressor protein homolog)
length: 214
go: ENSG00000118242;
snps: rs1864253
sequence:

opentargets:
apical plasma membrane [GO:0016324]; melanosome [GO:0042470]; protein-containing complex [GO:0032991]; melanocyte differentiation [GO:0030318]; melanosome transport [GO:0032402]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N565-1; Sequence=Displayed; Name=2; IsoId=Q8N565-2; Sequence=VSP_026387; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Localizes to the inner segment and basal outer segment of rods in the retina. {ECO:0000250}.


uniprotID: Q5TGP6
geneSymbol: MROH9
name: Maestro heat-like repeat-containing protein family member 9
length: 573
go: ENSG00000117501;
snps: rs17563089 rs2294740 rs16863872
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TGP6-1; Sequence=Displayed; Name=2; IsoId=Q5TGP6-2; Sequence=VSP_047654; Note=No experimental confirmation available.; 


uniprotID: O75425
geneSymbol: MOSPD3
name: Motile sperm domain-containing protein 3
length: 235
go: ENSG00000106330;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; heart development [GO:0007507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75425-1; Sequence=Displayed; Name=2; IsoId=O75425-2; Sequence=VSP_014053; Note=Gene prediction confirmed by EST data.; Name=3; IsoId=O75425-3; Sequence=VSP_014054, VSP_014055; Note=Gene prediction confirmed by EST data.; Name=4; IsoId=O75425-4; Sequence=VSP_044522; Note=Gene prediction confirmed by EST data.; 


uniprotID: Q8IXL7
geneSymbol: MSRB3
reactome: R-HSA-5676934;
name: Methionine-R-sulfoxide reductase B3 (MsrB3) (EC 1.8.4.12) (EC 1.8.4.14)
length: 192
go: ENSG00000174099;
snps: rs387907088
sequence:
MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSAALSFTPADSSGTAEGGSGVASPAQADKAEL

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; mitochondrion [GO:0005739]; L-methionine-(R)-S-oxide reductase activity [GO:0033745]; peptide-methionine (R)-S-oxide reductase activity [GO:0033743]; zinc ion binding [GO:0008270]; cellular response to oxidative stress [GO:0034599]; protein repair [GO:0030091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=Q8IXL7-1; Sequence=Displayed; Name=2; Synonyms=B, C, D; IsoId=Q8IXL7-2; Sequence=VSP_040883; Note=Has a transit peptide.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion.


uniprotID: C9JG80
geneSymbol: NPIPB4
name: Nuclear pore complex-interacting protein family member B4
length: 1138
go: ENSG00000185864;
opentargets: integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: A8MRT5
geneSymbol: NPIPB5
name: Nuclear pore complex-interacting protein family member B5
length: 1133
go: ENSG00000243716;
opentargets: integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q13508
geneSymbol: ART3
reactome: R-HSA-163125;
length: 389
go: ENSG00000156219;
snps: rs1128864
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
Ecto-ADP-ribosyltransferase 3 (EC 2.4.2.31) (ADP-ribosyltransferase C2 and C3 toxin-like 3) (ARTC3) (Mono(ADP-ribosyl)transferase 3) (NAD(P)(+)--arginine ADP-ribosyltransferase 3)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; NAD(P)+-protein-arginine ADP-ribosyltransferase activity [GO:0003956]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; peptidyl-arginine ADP-ribosylation [GO:0018120]; protein ADP-ribosylation [GO:0006471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=3; IsoId=Q13508-1; Sequence=Displayed; Name=1; IsoId=Q13508-2; Sequence=VSP_003375; Name=2; IsoId=Q13508-3; Sequence=VSP_003374; 


uniprotID: Q86SM5
geneSymbol: MRGPRG
name: Mas-related G-protein coupled receptor member G (G-protein coupled receptor 169)
length: 289
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A0A1B0GUY1
geneSymbol: MARCOL
name: MARCO-like protein
length: 285
go: ENSG00000248109;
sequence:


uniprotID: Q9NZV6
geneSymbol: MSRB1
reactome: R-HSA-5676934;
pdb: 3MAO;
name: Methionine-R-sulfoxide reductase B1 (MsrB1) (EC 1.8.4.12) (EC 1.8.4.14) (Selenoprotein X) (SelX)
length: 116
go: ENSG00000198736;
drug: DB00134;
sequence:
MSFCSFFGGEVFQNHFEPGVYVCAKCGYELFSSRSKYAHSSPWPAFTETIHADSVAKRPEHNRSEALKVSCGKCGNGLGHEFLNDGPKPGQSRFUIFSSSLKFVPKGKETSASQGH

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; nucleus [GO:0005634]; actin binding [GO:0003779]; L-methionine-(R)-S-oxide reductase activity [GO:0033745]; methionine-R-sulfoxide reductase activity [GO:0070191]; peptide-methionine (R)-S-oxide reductase activity [GO:0033743]; zinc ion binding [GO:0008270]; actin filament polymerization [GO:0030041]; innate immune response [GO:0045087]; protein repair [GO:0030091]; response to oxidative stress [GO:0006979]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9JLC3}. Nucleus {ECO:0000250|UniProtKB:Q9JLC3}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9JLC3}.


uniprotID: Q16612
geneSymbol: NREP
name: Neuronal regeneration-related protein (Neuronal protein 3.1) (Protein p311)
sequence: MVYYPELFVWVSQEPFPNKDMEGRLPKGRLPVPKEVNRKKNDETNAASLTPLGSSELRSPRISYLHFF
length: 68
go: ENSG00000134986;
snps: rs11559
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11358844}.
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; axon regeneration [GO:0031103]; regulation of neuron differentiation [GO:0045664]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16612-1; Sequence=Displayed; Name=2; IsoId=Q16612-2; Sequence=VSP_043013; Note=No experimental confirmation available.; 


uniprotID: Q16656
geneSymbol: NRF1
reactome: R-HSA-1989781;R-HSA-2151201;
name: Nuclear respiratory factor 1 (NRF-1) (Alpha palindromic-binding protein) (Alpha-pal)
length: 503
go: ENSG00000106459;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; core promoter sequence-specific DNA binding [GO:0001046]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; generation of precursor metabolites and energy [GO:0006091]; mitochondrion organization [GO:0007005]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Long; IsoId=Q16656-1; Sequence=Displayed; Name=Short; IsoId=Q16656-2; Sequence=VSP_003598; Name=3; IsoId=Q16656-3; Sequence=VSP_054330; Note=No experimental confirmation available.; Name=4; IsoId=Q16656-4; Sequence=VSP_054331; 


uniprotID: Q8NFW9
geneSymbol: MYRIP
reactome: R-HSA-264876;
length: 859
go: ENSG00000170011;
snps: rs59923220 rs55785561 rs34800524
name:
Rab effector MyRIP (Exophilin-8) (Myosin-VIIa- and Rab-interacting protein) (Synaptotagmin-like protein lacking C2 domains C) (SlaC2-c) (Slp homolog lacking C2 domains c)

sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; dense core granule [GO:0031045]; exocyst [GO:0000145]; melanosome [GO:0042470]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor outer segment [GO:0001750]; synapse [GO:0045202]; transport vesicle [GO:0030133]; actin binding [GO:0003779]; myosin binding [GO:0017022]; protein kinase A binding [GO:0051018]; Rab GTPase binding [GO:0017137]; zinc ion binding [GO:0008270]; intracellular protein transport [GO:0006886]; positive regulation of insulin secretion [GO:0032024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8NFW9-1; Sequence=Displayed; Name=2; IsoId=Q8NFW9-2; Sequence=VSP_043541; Note=No experimental confirmation available.; Name=3; IsoId=Q8NFW9-3; Sequence=VSP_043540; Note=No experimental confirmation available.; Name=4; IsoId=Q8NFW9-4; Sequence=VSP_043539; Note=No experimental confirmation available.; Name=5; IsoId=Q8NFW9-5; Sequence=VSP_043542, VSP_043543; Note=No experimental confirmation available.; Name=6; IsoId=Q8NFW9-6; Sequence=VSP_054896, VSP_054897; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8K3I4}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q7TNY7}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250|UniProtKB:Q7TNY7}. Note=In presynaptic and postsynaptic areas in photoreceptor cells and in the basal microvilli of retinal pigment epithelium cells. Associated with melanosomes. Colocalizes with actin filaments. {ECO:0000250|UniProtKB:Q7TNY7}.


uniprotID: P56975
geneSymbol: NRG3
name: Pro-neuregulin-3, membrane-bound isoform (Pro-NRG3) [Cleaved into: Neuregulin-3 (NRG-3)]
length: 720
go: ENSG00000185737;
snps: rs2295934 rs17101193
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1257604;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; chemorepellent activity [GO:0045499]; growth factor activity [GO:0008083]; receptor tyrosine kinase binding [GO:0030971]; signaling receptor binding [GO:0005102]; transmembrane receptor protein tyrosine kinase activator activity [GO:0030297]; chemorepulsion involved in interneuron migration from the subpallium to the cortex [GO:0021842]; intracellular signal transduction [GO:0035556]; mammary placode formation [GO:0060596]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of neuron migration [GO:2001223]; pattern specification process [GO:0007389]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P56975-1; Sequence=Displayed; Name=2; IsoId=P56975-2; Sequence=VSP_021830; Name=3; Synonyms=FBNRG3; IsoId=P56975-3; Sequence=VSP_021828, VSP_021829; Name=4; IsoId=P56975-4; Sequence=VSP_035752; 

location:
SUBCELLULAR LOCATION: Pro-neuregulin-3, membrane-bound isoform: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Does not seem to be active. {ECO:0000250}.; SUBCELLULAR LOCATION: Neuregulin-3: Secreted {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type I membrane protein. Note=Isoform 3 is also proteolytically released as a soluble form.


uniprotID: Q8WWG1
geneSymbol: NRG4
name: Pro-neuregulin-4, membrane-bound isoform (Pro-NRG4) [Cleaved into: Neuregulin-4 (NRG-4)]
length: 115
go: ENSG00000169752;
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1257604;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;

sequence:
MPTDHEEPCGPSHKSFCLNGGLCYVIPTIPSPFCRCVENYTGARCEEVFLPGSSIQTKSNLFEAFVALAVLVTLIIGAFYFLCRKGHFQRASSVQYDINLVETSSTSAHHSHEQH

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; ERBB2 signaling pathway [GO:0038128]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of cell motility [GO:2000145]

location:
SUBCELLULAR LOCATION: Pro-neuregulin-4, membrane-bound isoform: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Does not seem to be active. {ECO:0000250}.; SUBCELLULAR LOCATION: Neuregulin-4: Secreted {ECO:0000250}.


uniprotID: P48552
geneSymbol: NRIP1
reactome: R-HSA-3899300;R-HSA-400253;R-HSA-9018519;
pdb: 2GPO;2GPP;4S14;4S15;5NTI;5NTN;5NTW;5NU1;6FZU;6G05;6G07;
name: Nuclear receptor-interacting protein 1 (Nuclear factor RIP140) (Receptor-interacting protein 140)
length: 1158
go: ENSG00000180530;
drug: DB06884;
snps: rs9941840 rs139263261 rs2228507 rs150468995 rs2229742 rs9975169 rs61750208 rs140803495
sequence:

opentargets:
histone deacetylase complex [GO:0000118]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; estrogen receptor binding [GO:0030331]; glucocorticoid receptor binding [GO:0035259]; histone deacetylase binding [GO:0042826]; nuclear hormone receptor binding [GO:0035257]; retinoid X receptor binding [GO:0046965]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; androgen receptor signaling pathway [GO:0030521]; cellular response to estradiol stimulus [GO:0071392]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; lipid storage [GO:0019915]; negative regulation of transcription by RNA polymerase II [GO:0000122]; ovarian follicle rupture [GO:0001543]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11266503, ECO:0000269|PubMed:12773562, ECO:0000269|PubMed:15060175, ECO:0000269|PubMed:7641693}. Note=Localized to discrete foci and redistributes to larger nuclear domains upon binding to ligand-bound NR3C1.


uniprotID: Q9BQI9
geneSymbol: NRIP2
name: Nuclear receptor-interacting protein 2
length: 281
go: ENSG00000053702;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; aspartic-type endopeptidase activity [GO:0004190]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQI9-1; Sequence=Displayed; Name=2; IsoId=Q9BQI9-2; Sequence=VSP_053930; Note=No experimental confirmation available.; 


uniprotID: Q9NWW6
geneSymbol: NMRK1
reactome: R-HSA-196807;
pdb: 2P0E;2QG6;2QL6;2QSY;2QSZ;2QT0;2QT1;
length: 199
go: ENSG00000106733;
name:
Nicotinamide riboside kinase 1 (NRK 1) (NmR-K 1) (EC 2.7.1.22) (Nicotinic acid riboside kinase 1) (EC 2.7.1.173) (Ribosylnicotinamide kinase 1) (RNK 1) (Ribosylnicotinic acid kinase 1)

sequence:
MKTFIIGISGVTNSGKTTLAKNLQKHLPNCSVISQDDFFKPESEIETDKNGFLQYDVLEALNMEKMMSAISCWMESARHSVVSTDQESAEEIPILIIEGFLLFNYKPLDTIWNRSYFLTIPYEECKRRRSTRVYQPPDSPGYFDGHVWPMYLKYRQEMQDITWEVVYLDGTKSEEDLFLQVYEDLIQELAKQKCLQVTA

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; ribosylnicotinamide kinase activity [GO:0050262]; ribosylnicotinate kinase activity [GO:0061769]; uridine kinase activity [GO:0004849]; NAD biosynthetic process [GO:0009435]; NAD metabolic process [GO:0019674]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWW6-1; Sequence=Displayed; Name=2; IsoId=Q9NWW6-2; Sequence=VSP_012676; Note=No experimental confirmation available.; 


uniprotID: Q9NPI5
geneSymbol: NMRK2
reactome: R-HSA-196807;
length: 230
go: ENSG00000077009;
snps: rs16992131
name:
Nicotinamide riboside kinase 2 (NRK 2) (NmR-K 2) (EC 2.7.1.22) (Integrin beta-1-binding protein 3) (Muscle integrin-binding protein) (MIBP) (Nicotinic acid riboside kinase 2) (EC 2.7.1.173) (Ribosylnicotinamide kinase 2) (RNK 2) (Ribosylnicotinic acid kinase 2)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; ribosylnicotinamide kinase activity [GO:0050262]; ribosylnicotinate kinase activity [GO:0061769]; NAD biosynthetic process [GO:0009435]; NAD metabolic process [GO:0019674]; negative regulation of myoblast differentiation [GO:0045662]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPI5-1; Sequence=Displayed; Name=2; IsoId=Q9NPI5-3; Sequence=VSP_054332; Note=No experimental confirmation available.; 


uniprotID: Q7Z2Y5
geneSymbol: NRK
name: Nik-related protein kinase (EC 2.7.11.1)
length: 1582
go: ENSG00000123572;
sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton reorganization [GO:0031532]; activation of JNKK activity [GO:0007256]; activation of protein kinase activity [GO:0032147]; MAPK cascade [GO:0000165]; negative regulation of cell proliferation [GO:0008285]; neuron projection morphogenesis [GO:0048812]; parturition [GO:0007567]; regulation of spongiotrophoblast cell proliferation [GO:0060721]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

snps:
rs55862725 rs209373 rs55635933 rs56350428 rs35115195 rs33936206 rs764355898 rs35334892 rs16984889 rs35393519 rs35720774 rs35942881 rs34232354 rs35609510 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z2Y5-1; Sequence=Displayed; Name=2; IsoId=Q7Z2Y5-2; Sequence=VSP_020654, VSP_020657; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z2Y5-3; Sequence=VSP_020655, VSP_020656; Note=No experimental confirmation available.; 


uniprotID: P54845
geneSymbol: NRL
name: Neural retina-specific leucine zipper protein (NRL)
length: 237
go: ENSG00000129535;
snps: rs104894459 rs794727281 rs199691910 rs149921817 rs397514516 rs757038765 rs201970559 rs104894463
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; leucine zipper domain binding [GO:0043522]; promoter-specific chromatin binding [GO:1990841]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; positive regulation of rhodopsin gene expression [GO:0045872]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of rhodopsin gene expression [GO:0007468]; response to stimulus [GO:0050896]; retinal rod cell development [GO:0046548]; transcription by RNA polymerase II [GO:0006366]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P54845-1; Sequence=Displayed; Name=2; IsoId=P54845-2; Sequence=VSP_055567; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11477108}. Nucleus {ECO:0000269|PubMed:11477108, ECO:0000269|PubMed:17335001}.


uniprotID: Q8IXM6
geneSymbol: NRM
name: Nurim (Nuclear envelope membrane protein) (Nuclear rim protein)
length: 262
go: ENSG00000137404;
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=a; IsoId=Q8IXM6-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q8IXM6-2; Sequence=VSP_027627; Name=3; Synonyms=c; IsoId=Q8IXM6-6; Sequence=VSP_054311, VSP_054312; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:10402458, ECO:0000269|PubMed:15542857, ECO:0000269|PubMed:23092226}; Multi-pass membrane protein {ECO:0000269|PubMed:10402458, ECO:0000269|PubMed:15542857, ECO:0000269|PubMed:23092226}.


uniprotID: Q496H8
geneSymbol: NRN1L
reactome: R-HSA-163125;
name: Neuritin-like protein
length: 165
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:
MMRCCRRRCCCRQPPHALRPLLLLPLVLLPPLAAAAAGPNRCDTIYQGFAECLIRLGDSMGRGGELETICRSWNDFHACASQVLSGCPEEAAAVWESLQQEARQAPRPNNLHTLCGAPVHVRERGTGSETNQETLRATAPALPMAPAPPLLAAALALAYLLRPLA

opentargets:
anchored component of plasma membrane [GO:0046658]; axon [GO:0030424]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; neuron projection extension [GO:1990138]


uniprotID: Q9NPD7
geneSymbol: NRN1
reactome: R-HSA-163125;
name: Neuritin
length: 142
go: ENSG00000124785;
sequence:
MGLKLNGRYISLILAVQIAYLVQAVRAAGKCDAVFKGFSDCLLKLGDSMANYPQGLDDKTNIKTVCTYWEDFHSCTVTALTDCQEGAKDMWDKLRKESKNLNIQGSLFELCGSGNGAAGSLLPAFPVLLVSLSAALATWLSF

opentargets:
anchored component of membrane [GO:0031225]; cell junction [GO:0030054]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; synapse [GO:0045202]; nervous system development [GO:0007399]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}. Cell junction, synapse {ECO:0000250}.


uniprotID: O14786
geneSymbol: NRP1
reactome: R-HSA-194306;R-HSA-376176;R-HSA-399954;R-HSA-399955;R-HSA-399956;R-HSA-445144;R-HSA-447041;
pdb: 1KEX;2QQI;2QQM;2QQN;3I97;4DEQ;4RN5;5C7G;5IJR;5IYY;5J1X;5JGI;5JGQ;5JHK;5L73;
name: Neuropilin-1 (Vascular endothelial cell growth factor 165 receptor) (CD antigen CD304)
length: 923
go: ENSG00000099250;
drug: DB00039;DB04895;
snps: rs7079053 rs2228637 rs2228638
sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; early endosome [GO:0005769]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; integral component of postsynaptic membrane [GO:0099055]; neurofilament [GO:0005883]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; semaphorin receptor complex [GO:0002116]; sorting endosome [GO:0097443]; coreceptor activity [GO:0015026]; cytokine binding [GO:0019955]; growth factor binding [GO:0019838]; GTPase activator activity [GO:0005096]; heparin binding [GO:0008201]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; semaphorin receptor activity [GO:0017154]; vascular endothelial growth factor binding [GO:0038085]; vascular endothelial growth factor-activated receptor activity [GO:0005021]; actin cytoskeleton reorganization [GO:0031532]; angiogenesis [GO:0001525]; angiogenesis involved in coronary vascular morphogenesis [GO:0060978]; animal organ morphogenesis [GO:0009887]; artery morphogenesis [GO:0048844]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; axonogenesis involved in innervation [GO:0060385]; basal dendrite arborization [GO:0150020]; basal dendrite development [GO:0150018]; branching involved in blood vessel morphogenesis [GO:0001569]; branchiomotor neuron axon guidance [GO:0021785]; cell migration involved in sprouting angiogenesis [GO:0002042]; cell-cell signaling [GO:0007267]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; commissural neuron axon guidance [GO:0071679]; coronary artery morphogenesis [GO:0060982]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; dorsal root ganglion morphogenesis [GO:1904835]; endothelial cell chemotaxis [GO:0035767]; endothelial cell migration [GO:0043542]; endothelial tip cell fate specification [GO:0097102]; facial nerve structural organization [GO:0021612]; facioacoustic ganglion development [GO:1903375]; gonadotrophin-releasing hormone neuronal migration to the hypothalamus [GO:0021828]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; integrin-mediated signaling pathway [GO:0007229]; motor neuron migration [GO:0097475]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of neuron apoptotic process [GO:0043524]; nerve development [GO:0021675]; neural crest cell migration involved in autonomic nervous system development [GO:1901166]; neuron migration [GO:0001764]; neuropilin signaling pathway [GO:0038189]; otic placode development [GO:1905040]; outflow tract septum morphogenesis [GO:0003148]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive chemotaxis [GO:0050918]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of axon extension involved in axon guidance [GO:0048842]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cytokine activity [GO:0060301]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphorylation [GO:0042327]; positive regulation of retinal ganglion cell axon guidance [GO:1902336]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; postsynapse organization [GO:0099173]; protein localization to early endosome [GO:1902946]; regulation of Cdc42 protein signal transduction [GO:0032489]; regulation of retinal ganglion cell axon guidance [GO:0090259]; regulation of vesicle-mediated transport [GO:0060627]; renal artery morphogenesis [GO:0061441]; response to wounding [GO:0009611]; retina vasculature morphogenesis in camera-type eye [GO:0061299]; retinal ganglion cell axon guidance [GO:0031290]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; semaphorin-plexin signaling pathway involved in neuron projection guidance [GO:1902285]; sensory neuron axon guidance [GO:0097374]; signal transduction [GO:0007165]; sprouting angiogenesis [GO:0002040]; substrate adhesion-dependent cell spreading [GO:0034446]; substrate-dependent cell migration, cell extension [GO:0006930]; sympathetic ganglion development [GO:0061549]; sympathetic neuron projection extension [GO:0097490]; sympathetic neuron projection guidance [GO:0097491]; toxin transport [GO:1901998]; trigeminal ganglion development [GO:0061551]; trigeminal nerve structural organization [GO:0021637]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; VEGF-activated neuropilin signaling pathway [GO:0038190]; VEGF-activated neuropilin signaling pathway involved in axon guidance [GO:1902378]; ventral trunk neural crest cell migration [GO:0036486]; vestibulocochlear nerve structural organization [GO:0021649]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Membrane-bound; IsoId=O14786-1; Sequence=Displayed; Name=2; Synonyms=Soluble, SNRP1; IsoId=O14786-2; Sequence=VSP_004339, VSP_004340; Name=3; IsoId=O14786-3; Sequence=VSP_053498, VSP_004339, VSP_004340; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: O60462
geneSymbol: NRP2
reactome: R-HSA-194306;R-HSA-447038;
pdb: 2QQJ;2QQK;2QQL;2QQO;4QDQ;4QDR;4QDS;5DN2;5DQ0;6GH8;
name: Neuropilin-2 (Vascular endothelial cell growth factor 165 receptor 2)
length: 931
go: ENSG00000118257;
snps: rs849541 rs114144673 rs139711818 rs1128169
sequence:

opentargets:
axon [GO:0030424]; extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of postsynaptic membrane [GO:0099055]; membrane [GO:0016020]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; cytokine binding [GO:0019955]; growth factor binding [GO:0019838]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; semaphorin receptor activity [GO:0017154]; signaling receptor activity [GO:0038023]; vascular endothelial growth factor-activated receptor activity [GO:0005021]; angiogenesis [GO:0001525]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cellular response to leukemia inhibitory factor [GO:1990830]; dorsal root ganglion morphogenesis [GO:1904835]; facial nerve structural organization [GO:0021612]; facioacoustic ganglion development [GO:1903375]; gonadotrophin-releasing hormone neuronal migration to the hypothalamus [GO:0021828]; negative chemotaxis [GO:0050919]; nerve development [GO:0021675]; neural crest cell migration involved in autonomic nervous system development [GO:1901166]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; regulation of postsynapse organization [GO:0099175]; semaphorin-plexin signaling pathway involved in neuron projection guidance [GO:1902285]; sensory neuron axon guidance [GO:0097374]; sympathetic ganglion development [GO:0061549]; sympathetic neuron projection extension [GO:0097490]; sympathetic neuron projection guidance [GO:0097491]; trigeminal ganglion development [GO:0061551]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; ventral trunk neural crest cell migration [GO:0036486]; vestibulocochlear nerve structural organization [GO:0021649]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=A22; IsoId=O60462-1; Sequence=Displayed; Name=A0; IsoId=O60462-2; Sequence=VSP_004342; Name=A17; IsoId=O60462-3; Sequence=VSP_004341; Name=B0; IsoId=O60462-4; Sequence=VSP_004341, VSP_041160; Name=B5; IsoId=O60462-5; Sequence=VSP_041160; Name=s9; IsoId=O60462-6; Sequence=VSP_044908, VSP_044909; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11112349}; Single-pass type I membrane protein {ECO:0000269|PubMed:11112349}.; SUBCELLULAR LOCATION: Isoform s9: Secreted {ECO:0000269|PubMed:11112349}.


uniprotID: Q8IZ57
geneSymbol: NRSN1
name: Neurensin-1 (Neuro-p24) (Vesicular membrane protein of 24 kDa) (Vesicular membrane protein p24)
length: 195
go: ENSG00000152954;
snps: rs17299946 rs11544636
sequence:
MSSCSNVCGSRQAQAAAEGGYQRYGVRSYLHQFYEDCTASIWEYEDDFQIQRSPNRWSSVFWKVGLISGTVFVILGLTVLAVGFLVPPKIEAFGEADFVVVDTHAVQFNSALDMYKLAGAVLFCIGGTSMAGCLLMSVFVKSYSKEEKFLQQKFKERIADIKAHTQPVTKAPGPGETKIPVTLSRVQNVQPLLAT

opentargets:
cytoplasmic vesicle [GO:0031410]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; transport vesicle [GO:0030133]; nervous system development [GO:0007399]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Localizes mainly to neurites.


uniprotID: Q9GZP1
geneSymbol: NRSN2
name: Neurensin-2
length: 204
go: ENSG00000125841;
snps: rs11556643 rs17762763 rs35731713
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; nervous system development [GO:0007399]


uniprotID: Q99748
geneSymbol: NRTN
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
pdb: 5MR4;5MR5;5MR9;5NMZ;
name: Neurturin
length: 197
go: ENSG00000171119;
snps: rs575363266
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MQRWKAAALASVLCSSVLSIWMCREGLLLSHRLGPALVPLHRLPRTLDARIARLAQYRALLQGAPDAMELRELTPWAGRPPGPRRRAGPRRRRARARLGARPCGLRELEVRVSELGLGYASDETVLFRYCAGACEAAARVYDLGLRRLRQRRRLRRERVRAQPCCRPTAYEDEVSFLDAHSRYHTVHELSARECACV

opentargets:
axon [GO:0030424]; extracellular region [GO:0005576]; intracellular [GO:0005622]; growth factor activity [GO:0008083]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; MAPK cascade [GO:0000165]; nerve development [GO:0021675]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; neuron projection development [GO:0031175]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]


uniprotID: Q9ULB1
geneSymbol: NRXN1
reactome: R-HSA-3000171;R-HSA-6794361;
name: Neurexin-1 (Neurexin I-alpha) (Neurexin-1-alpha)
length: 1477
go: ENSG00000179915;
snps: rs199598542 rs17040901
sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic active zone membrane [GO:0099059]; neuronal cell body [GO:0043025]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; protein-containing complex [GO:0032991]; Schaffer collateral - CA1 synapse [GO:0098685]; vesicle [GO:0031982]; acetylcholine receptor binding [GO:0033130]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; neuroligin family protein binding [GO:0097109]; signaling receptor activity [GO:0038023]; adult behavior [GO:0030534]; axon guidance [GO:0007411]; chemical synaptic transmission [GO:0007268]; gephyrin clustering involved in postsynaptic density assembly [GO:0097116]; learning [GO:0007612]; neuroligin clustering involved in postsynaptic membrane assembly [GO:0097118]; neuromuscular process controlling balance [GO:0050885]; neuron cell-cell adhesion [GO:0007158]; neurotransmitter secretion [GO:0007269]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synapse maturation [GO:0090129]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic density protein 95 clustering [GO:0097119]; postsynaptic membrane assembly [GO:0097104]; prepulse inhibition [GO:0060134]; regulation of grooming behavior [GO:2000821]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; regulation of synaptic vesicle cycle [GO:0098693]; social behavior [GO:0035176]; synapse assembly [GO:0007416]; synaptic membrane adhesion [GO:0099560]; trans-synaptic signaling by endocannabinoid [GO:0099542]; vocal learning [GO:0042297]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Comment=A number of isoforms are produced by alternative promoter usage including the alpha-type and beta-type isoforms which differ in their N-terminus. Additional isoforms may be produced by alternative splicing. {ECO:0000269|PubMed:11944992, ECO:0000269|PubMed:12168954}; Name=1a; IsoId=Q9ULB1-1; Sequence=Displayed; Name=2a; IsoId=Q9ULB1-2; Sequence=VSP_014541, VSP_041355, VSP_058202; Note=Produced by alternative splicing. No experimental confirmation available.; Name=3a; IsoId=Q9ULB1-3; Sequence=VSP_041353, VSP_041354, VSP_041355; Note=Produced by alternative splicing.; Name=3b; IsoId=P58400-1; Sequence=External; Name=4; IsoId=Q9ULB1-4; Sequence=VSP_058200, VSP_058201, VSP_058202; Note=Produced by alternative promoter usage and alternative splicing. {ECO:0000305}; Name=1b; IsoId=P58400-2; Sequence=External; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, synapse {ECO:0000305}. Note=Localized on the pre-synaptic membrane. {ECO:0000250}.


uniprotID: P58400
geneSymbol: NRXN1
reactome: R-HSA-6794361;
pdb: 3B3Q;
name: Neurexin-1-beta (Neurexin I-beta)
length: 472
go: ENSG00000179915;
sequence:

opentargets:
axonal growth cone [GO:0044295]; cell junction [GO:0030054]; cell surface [GO:0009986]; endocytic vesicle [GO:0030139]; endoplasmic reticulum [GO:0005783]; integral component of presynaptic membrane [GO:0099056]; neuronal cell body [GO:0043025]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; presynaptic membrane [GO:0042734]; vesicle [GO:0031982]; calcium-dependent protein binding [GO:0048306]; cell adhesion molecule binding [GO:0050839]; metal ion binding [GO:0046872]; neuroligin family protein binding [GO:0097109]; signaling receptor binding [GO:0005102]; transmembrane signaling receptor activity [GO:0004888]; type 1 fibroblast growth factor receptor binding [GO:0005105]; adult behavior [GO:0030534]; angiogenesis [GO:0001525]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cellular response to calcium ion [GO:0071277]; cerebellar granule cell differentiation [GO:0021707]; establishment of protein localization [GO:0045184]; gamma-aminobutyric acid receptor clustering [GO:0097112]; gephyrin clustering involved in postsynaptic density assembly [GO:0097116]; guanylate kinase-associated protein clustering [GO:0097117]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; learning [GO:0007612]; negative regulation of filopodium assembly [GO:0051490]; negative regulation of gene expression [GO:0010629]; neuroligin clustering involved in postsynaptic membrane assembly [GO:0097118]; neuron cell-cell adhesion [GO:0007158]; neuron projection development [GO:0031175]; neuronal signal transduction [GO:0023041]; NMDA glutamate receptor clustering [GO:0097114]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of presynaptic active zone assembly [GO:1905520]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein kinase C activity [GO:1900020]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic density protein 95 clustering [GO:0097119]; postsynaptic membrane assembly [GO:0097104]; presynaptic membrane assembly [GO:0097105]; protein localization to synapse [GO:0035418]; protein-containing complex assembly involved in synapse maturation [GO:0090126]; receptor localization to synapse [GO:0097120]; regulation of AMPA receptor activity [GO:2000311]; regulation of NMDA receptor activity [GO:2000310]; signal transduction [GO:0007165]; social behavior [GO:0035176]; synapse assembly [GO:0007416]; synaptic vesicle clustering [GO:0097091]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Comment=A number of isoforms are produced by alternative promoter usage including the alpha-type and beta-type isoforms which differ in their N-terminus. Additional isoforms may be produced by alternative splicing.; Name=1b; IsoId=P58400-2; Sequence=Displayed; Name=3b; IsoId=P58400-1; Sequence=VSP_059057; Name=1a; IsoId=Q9ULB1-1; Sequence=External; Name=2a; IsoId=Q9ULB1-2; Sequence=External; Note=Produced by alternative splicing. No experimental confirmation available.; Name=3a; IsoId=Q9ULB1-3; Sequence=External; Note=Produced by alternative splicing.; Name=4; IsoId=Q9ULB1-4; Sequence=External; Note=Produced by alternative promoter usage and alternative splicing. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Note=Localized on the pre-synaptic membrane. {ECO:0000250}.


uniprotID: Q9P2S2
geneSymbol: NRXN2
reactome: R-HSA-6794361;
name: Neurexin-2 (Neurexin II-alpha) (Neurexin-2-alpha)
length: 1712
go: ENSG00000110076;
snps: rs12273892
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; calcium channel regulator activity [GO:0005246]; cell adhesion molecule binding [GO:0050839]; metal ion binding [GO:0046872]; neuroligin family protein binding [GO:0097109]; transmembrane signaling receptor activity [GO:0004888]; adult behavior [GO:0030534]; chemical synaptic transmission [GO:0007268]; gephyrin clustering involved in postsynaptic density assembly [GO:0097116]; neuroligin clustering involved in postsynaptic membrane assembly [GO:0097118]; neuron cell-cell adhesion [GO:0007158]; neurotransmitter secretion [GO:0007269]; postsynaptic density protein 95 clustering [GO:0097119]; postsynaptic membrane assembly [GO:0097104]; signal transduction [GO:0007165]; social behavior [GO:0035176]; synapse assembly [GO:0007416]; vocal learning [GO:0042297]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Comment=A number of isoforms, alpha-type and beta-type are produced by alternative promoter usage. Beta-type isoforms differ from alpha-type isoforms in their N-terminus. Additional isoforms produced by alternative splicing seem to exist.; Name=1a; IsoId=Q9P2S2-1; Sequence=Displayed; Name=2a; Synonyms=Alpha-2B; IsoId=Q9P2S2-2; Sequence=VSP_003505, VSP_003506, VSP_003507, VSP_003508; Name=1b; IsoId=P58401-1; Sequence=External; 


uniprotID: P58401
geneSymbol: NRXN2
reactome: R-HSA-6794361;
pdb: 4NXR;
name: Neurexin-2-beta (Neurexin II-beta)
length: 666
go: ENSG00000110076;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; neuroligin family protein binding [GO:0097109]; transmembrane signaling receptor activity [GO:0004888]; neuron cell-cell adhesion [GO:0007158]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Comment=A number of isoforms, alpha-type and beta-type are produced by alternative promoter usage. Beta-type isoforms differ from alpha-type isoforms in their N-terminus. Additional isoforms produced by alternative splicing seem to exist.; Name=1b; IsoId=P58401-1; Sequence=Displayed; Name=1a; IsoId=Q9P2S2-1; Sequence=External; Name=2a; Synonyms=Alpha-2B; IsoId=Q9P2S2-2; Sequence=External; 


uniprotID: Q9Y4C0
geneSymbol: NRXN3
reactome: R-HSA-6794361;
name: Neurexin-3 (Neurexin III-alpha) (Neurexin-3-alpha)
length: 1643
go: ENSG00000021645;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; metal ion binding [GO:0046872]; neuroligin family protein binding [GO:0097109]; signaling receptor activity [GO:0038023]; adult behavior [GO:0030534]; axon guidance [GO:0007411]; learning [GO:0007612]; neuron cell-cell adhesion [GO:0007158]; social behavior [GO:0035176]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=A number of isoforms, alpha-type and beta-type, are produced by alternative promoter usage. Beta-type isoforms differ from alpha-type isoforms in their N-terminus. Additional isoforms produced by alternative splicing seem to exist. {ECO:0000269|PubMed:11944992}; Name=1a; IsoId=Q9Y4C0-1; Sequence=Displayed; Name=3a; IsoId=Q9Y4C0-3; Sequence=VSP_036463, VSP_036464; Note=Produced by alternative splicing.; Name=4a; IsoId=Q9Y4C0-4; Sequence=VSP_041699, VSP_041700, VSP_041701, VSP_041702, VSP_041703, VSP_041704; Note=Produced by alternative splicing.; Name=1b; IsoId=Q9HDB5-1; Sequence=External; Name=2b; IsoId=Q9HDB5-2; Sequence=External; Note=Produced by alternative splicing.; Name=3b; IsoId=Q9HDB5-3; Sequence=External; Note=Produced by alternative splicing. No experimental confirmation available.; Name=4b; IsoId=Q9HDB5-4; Sequence=External; Note=Produced by alternative splicing.; 


uniprotID: Q9HDB5
geneSymbol: NRXN3
reactome: R-HSA-6794361;
length: 637
go: ENSG00000021645;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Neurexin-3-beta (Neurexin III-beta) [Cleaved into: Neurexin-3-beta, soluble form; Neurexin-3-beta, C-terminal fragment (NRXN3-CTF)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; neuroligin family protein binding [GO:0097109]; transmembrane signaling receptor activity [GO:0004888]; adult behavior [GO:0030534]; angiogenesis [GO:0001525]; learning [GO:0007612]; neuron cell-cell adhesion [GO:0007158]; signal transduction [GO:0007165]; social behavior [GO:0035176]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=A number of isoforms, alpha-type and beta-type, are produced by alternative promoter usage. Beta-type isoforms differ from alpha-type isoforms in their N-terminus. Additional isoforms produced by alternative splicing seem to exist.; Name=1b; IsoId=Q9HDB5-1; Sequence=Displayed; Name=2b; IsoId=Q9HDB5-2; Sequence=VSP_036465, VSP_036466; Note=Produced by alternative splicing.; Name=3b; IsoId=Q9HDB5-3; Sequence=VSP_035644, VSP_035646, VSP_035647; Note=Produced by alternative splicing. No experimental confirmation available.; Name=4b; IsoId=Q9HDB5-4; Sequence=VSP_035644, VSP_040988; Note=Produced by alternative splicing.; Name=1a; IsoId=Q9Y4C0-1; Sequence=External; Name=3a; IsoId=Q9Y4C0-3; Sequence=External; Note=Produced by alternative splicing.; Name=4a; IsoId=Q9Y4C0-4; Sequence=External; Note=Produced by alternative splicing.; 


uniprotID: Q9Y6Y0
geneSymbol: IVNS1ABP
pdb: 5YY8;
length: 642
go: ENSG00000116679;
name:
Influenza virus NS1A-binding protein (NS1-BP) (NS1-binding protein) (Aryl hydrocarbon receptor-associated protein 3) (Kelch-like protein 39)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; transcription factor complex [GO:0005667]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of protein ubiquitination [GO:0031397]; response to virus [GO:0009615]; RNA splicing [GO:0008380]; transcription by RNA polymerase III [GO:0006383]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9696811}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9696811}. Nucleus, nucleoplasm {ECO:0000269|PubMed:9696811}. Note=Associated with actin filaments (By similarity). Localization related to speckle domains which correspond to interchromatin granules and are enriched in factors involved in pre-mRNA splicing (PubMed:9696811). Following influenza A virus infection, redistribution from speckles to a more diffuse distribution in the nucleoplasm (PubMed:9696811). {ECO:0000250|UniProtKB:Q920Q8, ECO:0000269|PubMed:9696811}.


uniprotID: A6NDL7
geneSymbol: METTL21EP
name: Putative methyltransferase-like protein 21E pseudogene (EC 2.1.1.-)
length: 271
opentargets: methyltransferase activity [GO:0008168]
sequence:


uniprotID: O15091
geneSymbol: KIAA0391
reactome: R-HSA-6785470;R-HSA-6787450;R-HSA-8868766;
pdb: 4ROU;4XGL;4XGM;
length: 583
go: ENSG00000100890;
snps: rs11156878
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18984158}.
name:
Mitochondrial ribonuclease P catalytic subunit (EC 3.1.26.5) (Mitochondrial ribonuclease P protein 3) (Mitochondrial RNase P protein 3)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrial ribonuclease P complex [GO:0030678]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; ribonuclease P activity [GO:0004526]; mitochondrial tRNA 5'-end processing [GO:0097745]; mitochondrial tRNA processing [GO:0090646]; tRNA 5'-leader removal [GO:0001682]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O15091-1; Sequence=Displayed; Name=2; IsoId=O15091-2; Sequence=VSP_036203; Name=3; IsoId=O15091-3; Sequence=VSP_036201; Name=4; IsoId=O15091-4; Sequence=VSP_036202; Note=No experimental confirmation available.; 


uniprotID: Q7Z5D8
geneSymbol: NANOGNB
name: NANOG neighbor homeobox (Homeobox protein C14)
length: 188
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:
MHRARWLTPVIPALWEAEAGRSRGQEIETILANKKQSAMPWDQDPEQSTGNYSEDEQNGKQKWREEGEAGRKREREKEEKNEKELQDEQENKRKRENEKQKQYPEKRLVSKSLMHTLWAKFKLNRCPTIQESLSLSFEFDMTHKQISQWFCKTRKKYNKEMSKRKHKKKHMRWRSLCCQGWSRTPALK


uniprotID: Q8TBE9
geneSymbol: NANP
reactome: R-HSA-4085001;
pdb: 2W4M;4KNV;4KNW;
length: 248
go: ENSG00000170191;
name:
N-acylneuraminate-9-phosphatase (EC 3.1.3.29) (Haloacid dehalogenase-like hydrolase domain-containing protein 4) (Neu5Ac-9-Pase)

sequence:

opentargets:
cytosol [GO:0005829]; N-acylneuraminate-9-phosphatase activity [GO:0050124]; carbohydrate metabolic process [GO:0005975]; N-acetylglucosamine biosynthetic process [GO:0006045]; N-acetylneuraminate biosynthetic process [GO:0046380]


uniprotID: O96009
geneSymbol: NAPSA
reactome: R-HSA-5683826;
name: Napsin-A (EC 3.4.23.-) (Aspartyl protease 4) (ASP4) (Asp 4) (Napsin-1) (TA01/TA02)
length: 420
go: ENSG00000131400;
snps: rs676314 rs11670727
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
alveolar lamellar body [GO:0097208]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; lysosome [GO:0005764]; multivesicular body lumen [GO:0097486]; aspartic-type endopeptidase activity [GO:0004190]; endopeptidase activity [GO:0004175]; peptidase activity [GO:0008233]; cellular protein metabolic process [GO:0044267]; membrane protein proteolysis [GO:0033619]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]; surfactant homeostasis [GO:0043129]


uniprotID: A0A087WUL8
geneSymbol: NBPF19
name: Neuroblastoma breakpoint family member 19
length: 3843
go: ENSG00000271383;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q16795
geneSymbol: NDUFA9
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 377
go: ENSG00000139180;
drug: DB00157;
snps: rs199592341
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:12611891}.
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (Complex I-39kD) (CI-39kD) (NADH-ubiquinone oxidoreductase 39 kDa subunit)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; coenzyme binding [GO:0050662]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; NADH dehydrogenase activity [GO:0003954]; protein-containing complex binding [GO:0044877]; circadian rhythm [GO:0007623]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to glucose [GO:0009749]; sodium ion transport [GO:0006814]; ubiquinone-6 biosynthetic process [GO:1901006]


uniprotID: Q6NSW7
geneSymbol: NANOGP8
name: Homeobox protein NANOGP8
length: 305
go: ENSG00000255192;
snps: rs2004079 rs2257251 rs146363687 rs1012377776 rs9944179 rs1326719179
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:16623708}.
sequence:

opentargets:
nucleus [GO:0005634]; sequence-specific DNA binding [GO:0043565]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of cell proliferation [GO:0008284]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q9Y3Q0
geneSymbol: NAALAD2
reactome: R-HSA-70614;
pdb: 3FEC;3FED;3FEE;3FF3;
length: 740
go: ENSG00000077616;
snps: rs11018879 rs10830430
name:
N-acetylated-alpha-linked acidic dipeptidase 2 (EC 3.4.17.21) (Glutamate carboxypeptidase III) (GCPIII) (N-acetylated-alpha-linked acidic dipeptidase II) (NAALADase II)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carboxypeptidase activity [GO:0004180]; dipeptidase activity [GO:0016805]; dipeptidyl-peptidase activity [GO:0008239]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; N-formylglutamate deformylase activity [GO:0050129]; serine-type peptidase activity [GO:0008236]; cellular amino acid biosynthetic process [GO:0008652]; neurotransmitter catabolic process [GO:0042135]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y3Q0-1; Sequence=Displayed; Name=2; IsoId=Q9Y3Q0-2; Sequence=VSP_054147, VSP_054148; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q04609}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q04609}.


uniprotID: Q8WX94
geneSymbol: NLRP7
pdb: 2KM6;
length: 980
go: ENSG00000167634;
name:
NACHT, LRR and PYD domains-containing protein 7 (Nucleotide-binding oligomerization domain protein 12) (PYRIN-containing APAF1-like protein 3)

sequence:

opentargets:
aspartic-type endopeptidase inhibitor activity [GO:0019828]; ATP binding [GO:0005524]; caspase binding [GO:0089720]; interleukin-1 binding [GO:0019966]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; negative regulation of aspartic-type peptidase activity [GO:1905246]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of protein processing [GO:0010955]; positive regulation of interleukin-1 beta secretion [GO:0050718]

snps:
rs775882 rs104895548 rs775881 rs104895549 rs104895502 rs104895502 rs104895506 rs104895550 rs104895525 rs104895552 rs104895503 rs7256020 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WX94-1; Sequence=Displayed; Name=2; IsoId=Q8WX94-2; Sequence=VSP_016906, VSP_016907; Note=No experimental confirmation available.; Name=3; IsoId=Q8WX94-3; Sequence=VSP_016907; Note=No experimental confirmation available.; 


uniprotID: Q86W28
geneSymbol: NLRP8
length: 1048
go: ENSG00000179709;
opentargets: cytoplasm [GO:0005737]; ATP binding [GO:0005524]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
NACHT, LRR and PYD domains-containing protein 8 (Nucleotide-binding oligomerization domain protein 16) (PYRIN and NACHT-containing protein 4)

sequence:

snps:
rs306507 rs306506 rs61739987 rs11880691 rs7259764 rs11880748 rs41391053 rs41481648 rs306496 rs306481 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86W28-1; Sequence=Displayed; Name=2; IsoId=Q86W28-2; Sequence=VSP_024274; Note=No experimental confirmation available.; 


uniprotID: Q8NEY1
geneSymbol: NAV1
length: 1877
go: ENSG00000134369;
snps: rs16849342 rs2820289 rs2292822 rs16849379
name:
Neuron navigator 1 (Pore membrane and/or filament-interacting-like protein 3) (Steerin-1) (Unc-53 homolog 1) (unc53H1)

sequence:

opentargets:
axon initial segment [GO:0043194]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule bundle formation [GO:0001578]; nervous system development [GO:0007399]; neuron migration [GO:0001764]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8NEY1-1; Sequence=Displayed; Name=2; IsoId=Q8NEY1-2; Sequence=VSP_025256; Name=3; IsoId=Q8NEY1-3; Sequence=VSP_025259; Name=4; IsoId=Q8NEY1-4; Sequence=VSP_025255, VSP_025259; Name=5; IsoId=Q8NEY1-5; Sequence=VSP_025253, VSP_025254, VSP_025259; Name=6; IsoId=Q8NEY1-6; Sequence=VSP_025256, VSP_025257, VSP_025258; Name=7; IsoId=Q8NEY1-7; Sequence=VSP_025255, VSP_025256, VSP_025259; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associates with a subset of microtubule plus ends. Enriched in neuronal growth cones (By similarity). {ECO:0000250}.


uniprotID: Q86T75
geneSymbol: NBPF11
name: Neuroblastoma breakpoint family member 11 (Neuroblastoma breakpoint family member 24)
length: 865
go: ENSG00000263956;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86T75-1; Sequence=Displayed; Name=2; IsoId=Q86T75-2; Sequence=VSP_040663, VSP_040664; 


uniprotID: Q5TAG4
geneSymbol: NBPF12
name: Neuroblastoma breakpoint family member 12 (Chromosome 1 amplified sequence 1)
length: 1457
go: ENSG00000268043;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q5TI25
geneSymbol: NBPF14
name: Neuroblastoma breakpoint family member 14
length: 921
opentargets: cytoplasm [GO:0005737]
snps: rs3871941
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q8N660
geneSymbol: NBPF15
name: Neuroblastoma breakpoint family member 15 (Neuroblastoma breakpoint family member 16)
length: 670
go: ENSG00000266338;
opentargets: cytoplasm [GO:0005737]
snps: rs6695216
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q9UJ70
geneSymbol: NAGK
reactome: R-HSA-446210;
pdb: 2CH5;2CH6;
name: N-acetyl-D-glucosamine kinase (N-acetylglucosamine kinase) (EC 2.7.1.59) (GlcNAc kinase)
length: 344
go: ENSG00000124357;
drug: DB00141;
snps: rs17856147 rs17849984
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; N-acetylglucosamine kinase activity [GO:0045127]; N-acetylglucosamine metabolic process [GO:0006044]; N-acetylmannosamine metabolic process [GO:0006051]; N-acetylneuraminate catabolic process [GO:0019262]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJ70-1; Sequence=Displayed; Name=2; IsoId=Q9UJ70-2; Sequence=VSP_044586; 


uniprotID: O15239
geneSymbol: NDUFA1
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
sequence: MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRYYVSKGLENID
length: 70
go: ENSG00000125356;
drug: DB00157;
snps: rs104894884 rs1801316 rs104894885 rs1257734702
name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 (Complex I-MWFE) (CI-MWFE) (NADH-ubiquinone oxidoreductase MWFE subunit)

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Single-pass membrane protein {ECO:0000255}; Matrix side {ECO:0000305}.


uniprotID: Q5T1S8
geneSymbol: NCMAP
name: Noncompact myelin-associated protein (Myelin protein of 11 kDa) (MP11)
length: 102
go: ENSG00000184454;
sequence:
MTTATPLGDTTFFSLNMTTRGEDFLYKSSGAIVAAVVVVVIIIFTVVLILLKMYNRKMRTRRELEPKGPKPTAPSAVGPNSNGSQHPATVTFSPVDVQVETR

opentargets:
integral component of plasma membrane [GO:0005887]; paranode region of axon [GO:0033270]; Schmidt-Lanterman incisure [GO:0043220]; structural constituent of myelin sheath [GO:0019911]; peripheral nervous system myelin formation [GO:0032290]; positive regulation of myelination [GO:0031643]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Localized mainly in the Schmidt-Lanterman incisures and paranodes of noncompact peripheral nerve myelin. {ECO:0000250}.


uniprotID: Q15080
geneSymbol: NCF4
reactome: R-HSA-1222556;R-HSA-1236973;R-HSA-3299685;R-HSA-4420097;R-HSA-5668599;
pdb: 1H6H;1OEY;1W6X;1W70;1Z9Q;2DYB;
length: 339
go: ENSG00000100365;
drug: DB00514;
snps: rs387906808 rs35160112 rs2075939
name:
Neutrophil cytosol factor 4 (NCF-4) (Neutrophil NADPH oxidase factor 4) (SH3 and PX domain-containing protein 4) (p40-phox) (p40phox)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; membrane [GO:0016020]; NADPH oxidase complex [GO:0043020]; phagolysosome [GO:0032010]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3-phosphate binding [GO:0032266]; protein dimerization activity [GO:0046983]; superoxide-generating NADPH oxidase activator activity [GO:0016176]; immune response [GO:0006955]; oxidation-reduction process [GO:0055114]; phagocytosis [GO:0006909]; respiratory burst [GO:0045730]; superoxide metabolic process [GO:0006801]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15080-1; Sequence=Displayed; Name=3; IsoId=Q15080-3; Sequence=VSP_042681; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:8280052}. Endosome membrane {ECO:0000269|PubMed:11684018}; Peripheral membrane protein {ECO:0000269|PubMed:11684018}; Cytoplasmic side {ECO:0000269|PubMed:11684018}. Membrane {ECO:0000269|PubMed:11684018}; Peripheral membrane protein {ECO:0000269|PubMed:11684018}.


uniprotID: P56181
geneSymbol: NDUFV3
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTB;5XTD;5XTH;5XTI;
length: 108
go: ENSG00000160194;
drug: DB00157;
name:
NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial (Complex I-9kD) (CI-9kD) (NADH-ubiquinone oxidoreductase 9 kDa subunit) (Renal carcinoma antigen NY-REN-4)

sequence:
MAAPCLLRQGRAGALKTMLQEAQVFRGLASTVSLSAESGKSEKGQPQNSKKQSPPKKPAPVPAEPFDNTTYKNLQHHDYSTYTFLDLNLELSKFRMPQPSSGRESPRH

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; RNA binding [GO:0003723]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56181-1; Sequence=Displayed; Name=2; IsoId=P56181-2; Sequence=VSP_038552; 

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


