# annotation

uniprotID: Q8NE79
geneSymbol: BVES
name: Blood vessel epicardial substance (hBVES) (Popeye domain-containing protein 1) (Popeye protein 1)
length: 360
go: ENSG00000112276;
snps: rs9486039 rs2275289 rs869025337
sequence:

opentargets:
bicellular tight junction [GO:0005923]; caveola [GO:0005901]; cell junction [GO:0030054]; cell projection membrane [GO:0031253]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; cAMP binding [GO:0030552]; structural molecule activity [GO:0005198]; cell migration involved in heart development [GO:0060973]; epithelial cell-cell adhesion [GO:0090136]; heart development [GO:0007507]; hematopoietic progenitor cell differentiation [GO:0002244]; muscle organ development [GO:0007517]; positive regulation of locomotion [GO:0040017]; positive regulation of receptor recycling [GO:0001921]; regulation of cell shape [GO:0008360]; regulation of endocytic recycling [GO:2001135]; regulation of GTPase activity [GO:0043087]; regulation of heart rate [GO:0002027]; regulation of membrane potential [GO:0042391]; response to ischemia [GO:0002931]; sinoatrial node cell development [GO:0060931]; skeletal muscle tissue development [GO:0007519]; substrate adhesion-dependent cell spreading [GO:0034446]; vesicle docking [GO:0048278]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Lateral cell membrane {ECO:0000269|PubMed:16188940}. Cell junction, tight junction {ECO:0000269|PubMed:16188940}. Membrane {ECO:0000269|PubMed:26642364}; Multi-pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma {ECO:0000269|PubMed:26642364}. Membrane, caveola {ECO:0000250|UniProtKB:Q9ES83}. Note=Colocalizes with VAMP3 at the cell-cell contact in cardiac and skeletal muscle (By similarity). Its movement from the cytoplasm to membrane is an early event occurring concurrently with cell-cell contact. Colocalizes in epithelial cells with OCLN and TJP1 in an apical-lateral position within the z axis. Detected at cell-cell contact but never observed at the free surface of epithelial cells. {ECO:0000250|UniProtKB:Q9ES83}.


uniprotID: Q6S8J3
geneSymbol: POTEE
length: 1075
go: ENSG00000188219;
name:
POTE ankyrin domain family member E (ANKRD26-like family C member 1A) (Prostate, ovary, testis-expressed protein on chromosome 2) (POTE-2)

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; retina homeostasis [GO:0001895]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=POTE2A; IsoId=Q6S8J3-1; Sequence=Displayed; Name=2; Synonyms=POTE2B; IsoId=Q6S8J3-2; Sequence=VSP_011969, VSP_011972, VSP_011973; Name=3; Synonyms=POTE2C, POTE2D; IsoId=Q6S8J3-3; Sequence=VSP_011970, VSP_011971; 


uniprotID: Q9H8P0
geneSymbol: SRD5A3
reactome: R-HSA-193048;R-HSA-446199;R-HSA-4755579;
length: 318
go: ENSG00000128039;
drug: DB00421;
name:
Polyprenol reductase (EC 1.3.1.94) (3-oxo-5-alpha-steroid 4-dehydrogenase 3) (EC 1.3.1.22) (Steroid 5-alpha-reductase 2-like) (Steroid 5-alpha-reductase 3) (S5AR 3) (SR type 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 3-oxo-5-alpha-steroid 4-dehydrogenase activity [GO:0003865]; cholestenone 5-alpha-reductase activity [GO:0047751]; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor [GO:0016628]; polyprenol reductase activity [GO:0102389]; androgen biosynthetic process [GO:0006702]; dolichol biosynthetic process [GO:0019408]; dolichol metabolic process [GO:0019348]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; dolichyl diphosphate biosynthetic process [GO:0006489]; polyprenol catabolic process [GO:0016095]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:20637498}; Multi-pass membrane protein {ECO:0000305|PubMed:20637498}.


uniprotID: Q5JR12
geneSymbol: PPM1J
name: Protein phosphatase 1J (EC 3.1.3.16) (Protein phosphatase 2C isoform zeta) (PP2C-zeta)
length: 505
go: ENSG00000155367;
opentargets: protein serine/threonine phosphatase activity [GO:0004722]
snps: rs34611728 rs10857971
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JR12-1; Sequence=Displayed; Name=2; IsoId=Q5JR12-2; Sequence=VSP_025882, VSP_025883; 


uniprotID: Q8N3J5
geneSymbol: PPM1K
reactome: R-HSA-70895;
pdb: 2IQ1;4DA1;
length: 372
go: ENSG00000163644;
snps: rs369916009 rs17853762 rs35523553
name:
Protein phosphatase 1K, mitochondrial (EC 3.1.3.16) (PP2C domain-containing protein phosphatase 1K) (PP2C-like mitochondrial protein) (PP2C-type mitochondrial phosphoprotein phosphatase) (PTMP) (Protein phosphatase 2C isoform kappa) (PP2C-kappa)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; branched-chain amino acid catabolic process [GO:0009083]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N3J5-1; Sequence=Displayed; Name=2; IsoId=Q8N3J5-2; Sequence=VSP_023158, VSP_023159; Name=3; IsoId=Q8N3J5-3; Sequence=VSP_023156, VSP_023157; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:17336929, ECO:0000269|PubMed:17374715}.


uniprotID: Q5SGD2
geneSymbol: PPM1L
reactome: R-HSA-1660661;
length: 360
go: ENSG00000163590;
snps: rs13326359
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Protein phosphatase 1L (EC 3.1.3.16) (Protein phosphatase 1-like) (Protein phosphatase 2C isoform epsilon) (PP2C-epsilon)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; MAPK cascade [GO:0000165]; sphingolipid biosynthetic process [GO:0030148]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SGD2-1; Sequence=Displayed; Name=2; IsoId=Q5SGD2-2; Sequence=VSP_016927; Name=3; IsoId=Q5SGD2-3; Sequence=VSP_037552, VSP_037553; Name=4; IsoId=Q5SGD2-4; Sequence=VSP_037554, VSP_037555; 


uniprotID: P01236
geneSymbol: PRL
reactome: R-HSA-1170546;R-HSA-977225;R-HSA-982772;
pdb: 1RW5;2Q98;3D48;3EW3;3MZG;3N06;3N0P;3NCB;3NCC;3NCE;3NCF;3NPZ;
name: Prolactin (PRL)
length: 227
go: ENSG00000172179;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endosome lumen [GO:0031904]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; hormone activity [GO:0005179]; prolactin receptor binding [GO:0005148]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cellular protein metabolic process [GO:0044267]; circadian rhythm [GO:0007623]; female pregnancy [GO:0007565]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; lactation [GO:0007595]; mammary gland development [GO:0030879]; multicellular organismal response to stress [GO:0033555]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endothelial cell proliferation [GO:0001937]; ovulation cycle [GO:0042698]; parturition [GO:0007567]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of lactation [GO:1903489]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; regulation of multicellular organism growth [GO:0040014]; regulation of ossification [GO:0030278]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; response to nutrient [GO:0007584]; response to nutrient levels [GO:0031667]


uniprotID: Q8NHR9
geneSymbol: PFN4
name: Profilin-4 (Profilin IV)
length: 129
go: ENSG00000176732;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:
MSHLQSLLLDTLLGTKHVDSAALIKIQERSLCVASPGFNVTPSDVRTLVNGFAKNPLQARREGLYFKGKDYRCVRADEYSLYAKNENTGVVVVKTHLYLLVATYTEGMYPSICVEATESLGDYLRKKGS

opentargets:
cell cortex [GO:0005938]; cytoskeleton [GO:0005856]; actin monomer binding [GO:0003785]; lipid binding [GO:0008289]; sequestering of actin monomers [GO:0042989]


uniprotID: Q99935
geneSymbol: OPRPN
length: 248
go: ENSG00000171199;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17101991}.
name:
Opiorphin prepropeptide (Basic proline-rich lacrimal protein) (Proline-rich protein 1) (PRL1) [Cleaved into: Opiorphin]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; endopeptidase inhibitor activity [GO:0004866]; peptidase inhibitor activity [GO:0030414]; regulation of sensory perception of pain [GO:0051930]; retina homeostasis [GO:0001895]


uniprotID: P85299
geneSymbol: PRR5
reactome: R-HSA-1257604;R-HSA-389357;R-HSA-5218920;R-HSA-5674400;R-HSA-6804757;
name: Proline-rich protein 5 (Protein observed with Rictor-1) (Protor-1)
length: 388
go: ENSG00000186654;
snps: rs36082900
sequence:

opentargets:
cytosol [GO:0005829]; TORC2 complex [GO:0031932]; activation of protein kinase B activity [GO:0032148]; cell cycle [GO:0007049]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; TORC2 signaling [GO:0038203]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=alpha; IsoId=P85299-1, Q9NSG0-5; Sequence=Displayed; Name=2; IsoId=P85299-2, Q9NSG0-8; Sequence=VSP_001646, VSP_001648; Name=3; Synonyms=beta; IsoId=P85299-3; Sequence=VSP_028885; Note=Derived from EST data. No experimental confirmation available.; Name=4; Synonyms=gamma; IsoId=P85299-4; Sequence=VSP_028884; Note=Derived from EST data. No experimental confirmation available.; Name=5; IsoId=P85299-5; Sequence=VSP_045883; Note=No experimental confirmation available.; 


uniprotID: P20472
geneSymbol: PVALB
pdb: 1RJV;1RK9;
name: Parvalbumin alpha
length: 110
go: ENSG00000100362;
drug: DB01942;
sequence:
MSMTDLLNAEDIKKAVGAFSATDSFDHKKFFQMVGLKKKSADDVKKVFHMLDKDKSGFIEEDELGFILKGFSPDARDLSAKETKMLMAAGDKDGDGKIGVDEFSTLVAES

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; calcium ion binding [GO:0005509]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; regulation of cytosolic calcium ion concentration [GO:0051480]


uniprotID: Q9UKI9
geneSymbol: POU2F3
length: 436
go: ENSG00000137709;
snps: rs7110845 rs2282537
location: SUBCELLULAR LOCATION: Nucleus.
name:
POU domain, class 2, transcription factor 3 (Octamer-binding protein 11) (Oct-11) (Octamer-binding transcription factor 11) (OTF-11) (Transcription factor PLA-1) (Transcription factor Skn-1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; epidermis development [GO:0008544]; negative regulation by host of viral transcription [GO:0043922]; 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=3;  Name=1; Synonyms=Skn-1a; IsoId=Q9UKI9-1; Sequence=Displayed; Name=2; IsoId=Q9UKI9-2; Sequence=VSP_043900; Note=No experimental confirmation available.; Name=3; Synonyms=Skn-1n; IsoId=Q9UKI9-3; Sequence=VSP_043901; Note=Specifically expressed in keratinocytes, induced by high calcium concentration.; 


uniprotID: Q8WVV4
geneSymbol: POF1B
pdb: 3BH9;
name: Protein POF1B (Premature ovarian failure protein 1B)
length: 589
go: ENSG00000124429;
snps: rs363766 rs147563033 rs363751 rs363775 rs75398746 rs363774 rs139385491 rs768162591
location: SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:21940798}.
sequence:

opentargets:
actin filament [GO:0005884]; adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; desmosome [GO:0030057]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; bicellular tight junction assembly [GO:0070830]; epithelial cell morphogenesis [GO:0003382]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q8WVV4-2; Sequence=Displayed; Name=1; IsoId=Q8WVV4-1; Sequence=VSP_021151; Name=3; IsoId=Q8WVV4-3; Sequence=VSP_021149, VSP_021150; Note=No experimental confirmation available.; 


uniprotID: Q96C90
geneSymbol: PPP1R14B
name: Protein phosphatase 1 regulatory subunit 14B (Phospholipase C-beta-3 neighbouring gene protein)
length: 147
go: ENSG00000173457;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:
MADSGTAGGAALAAPAPGPGSGGPGPRVYFQSPPGAAGEGPGGADDEGPVRRQGKVTVKYDRKELRKRLNLEEWILEQLTRLYDCQEEEIPELEIDVDELLDMESDDARAARVKELLVDCYKPTEAFISGLLDKIRGMQKLSTPQKK

opentargets:
cytoplasm [GO:0005737]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; innate immune response [GO:0045087]; regulation of phosphorylation [GO:0042325]


uniprotID: Q6PJE2
geneSymbol: POMZP3
name: POM121 and ZP3 fusion protein (POM-ZP3)
length: 187
go: ENSG00000146707;
snps: rs1065538
sequence:
MVCSPVTLRIAPPDRRFSRSAIPEQIISSTLSSPSSNAPDPCAKETVLSALKEKKKKRTVEEEDQIFLDGQENKRSCLVDGLTDASSAFKVPRPGPDTLQFTVDVFHFANDSRNMIYITCHLKVTLAEQDPDELNKACSFSKPSNSWFPVEGLADICQCCNKGDCGTPSHSRRQPRVVSQWSTSASL

opentargets:
extracellular matrix [GO:0031012]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; acrosin binding [GO:0032190]; binding of sperm to zona pellucida [GO:0007339]; egg coat formation [GO:0035803]; positive regulation of acrosome reaction [GO:2000344]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PJE2-4; Sequence=Displayed; Name=2; IsoId=Q6PJE2-5; Sequence=VSP_046257; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q96A00
geneSymbol: PPP1R14A
reactome: R-HSA-5625740;
length: 147
go: ENSG00000167641;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Protein phosphatase 1 regulatory subunit 14A (17 kDa PKC-potentiated inhibitory protein of PP1) (Protein kinase C-potentiated inhibitor protein of 17 kDa) (CPI-17)

sequence:
MAAQRLGKRVLSKLQSPSRARGPGGSPGGLQKRHARVTVKYDRRELQRRLDVEKWIDGRLEELYRGMEADMPDEINIDELLELESEEERSRKIQGLLKSCGKPVEDFIQELLAKLQGLHRQPGLRQPSPSHDGSLSPLQDRARTAHP

opentargets:
cytosol [GO:0005829]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; cellular response to drug [GO:0035690]; regulation of phosphorylation [GO:0042325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CPI-17alpha; IsoId=Q96A00-1; Sequence=Displayed; Name=2; Synonyms=CPI-17beta; IsoId=Q96A00-2; Sequence=VSP_011841; 


uniprotID: Q16378
geneSymbol: PRR4
length: 134
go: ENSG00000111215;
opentargets: extracellular space [GO:0005615]; retina homeostasis [GO:0001895]; visual perception [GO:0007601]
snps: rs1063193 rs1047699
location: SUBCELLULAR LOCATION: Secreted.
name:
Proline-rich protein 4 (Lacrimal proline-rich protein) (Nasopharyngeal carcinoma-associated proline-rich protein 4)

sequence:
MLLVLLSVVLLALSSAQSTDNDVNYEDFTFTIPDVEDSSQRPDQGPQRPPPEGLLPRPPGDSGNQDDGPQQRPPKPGGHHRHPPPPPFQNQQRPPRRGHRQLSLPRFPSVSLQEASSFFQRDRPARHPQEQPLW

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16378-1; Sequence=Displayed; Name=2; IsoId=Q16378-2; Sequence=VSP_044635; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q12857
geneSymbol: NFIA
reactome: R-HSA-73980;R-HSA-749476;
length: 509
go: ENSG00000162599;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear factor 1 A-type (NF1-A) (Nuclear factor 1/A) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/A) (NF-I/A) (NFI-A) (TGGCA-binding protein)

sequence:

opentargets:
cell junction [GO:0030054]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; DNA replication [GO:0006260]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; synapse maturation [GO:0060074]; ureter development [GO:0072189]; viral genome replication [GO:0019079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q12857-1; Sequence=Displayed; Name=2; IsoId=Q12857-2; Sequence=VSP_036620; Name=3; IsoId=Q12857-3; Sequence=VSP_046884; Name=4; IsoId=Q12857-4; Sequence=VSP_046883; 


uniprotID: O00712
geneSymbol: NFIB
reactome: R-HSA-73980;R-HSA-749476;
length: 420
go: ENSG00000147862;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear factor 1 B-type (NF1-B) (Nuclear factor 1/B) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/B) (NF-I/B) (NFI-B) (TGGCA-binding protein)

sequence:

opentargets:
cerebellar mossy fiber [GO:0044300]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription corepressor activity [GO:0003714]; anterior commissure morphogenesis [GO:0021960]; cell differentiation involved in salivary gland development [GO:0060689]; chondrocyte differentiation [GO:0002062]; Clara cell differentiation [GO:0060486]; commissural neuron axon guidance [GO:0071679]; DNA replication [GO:0006260]; glial cell differentiation [GO:0010001]; hindbrain development [GO:0030902]; lung ciliated cell differentiation [GO:0061141]; negative regulation of DNA binding [GO:0043392]; negative regulation of epithelial cell proliferation involved in lung morphogenesis [GO:2000795]; negative regulation of mesenchymal cell proliferation involved in lung development [GO:2000791]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; principal sensory nucleus of trigeminal nerve development [GO:0021740]; response to bacterium [GO:0009617]; salivary gland cavitation [GO:0060662]; type I pneumocyte differentiation [GO:0060509]; type II pneumocyte differentiation [GO:0060510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O00712-1; Sequence=Displayed; Name=2; IsoId=O00712-3; Sequence=Not described; Name=3; Synonyms=NFI-B3; IsoId=O00712-2; Sequence=VSP_003545, VSP_003546; Name=4; IsoId=O00712-4; Sequence=VSP_044462; Note=No experimental confirmation available.; Name=5; IsoId=O00712-5; Sequence=VSP_045065; Note=No experimental confirmation available.; Name=6; IsoId=O00712-6; Sequence=VSP_054713, VSP_054714; Note=No experimental confirmation available.; 


uniprotID: Q86X76
geneSymbol: NIT1
name: Deaminated glutathione amidase (dGSH amidase) (EC 3.5.1.-) (Nitrilase homolog 1)
length: 327
go: ENSG00000158793;
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides [GO:0016811]; nitrilase activity [GO:0000257]; nitrogen compound metabolic process [GO:0006807]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; IsoId=Q86X76-1; Sequence=Displayed; Note=Major isoform.; Name=1; Synonyms=3; IsoId=Q86X76-2; Sequence=VSP_011546; Name=4; IsoId=Q86X76-3; Sequence=VSP_011544, VSP_011547; Name=5; IsoId=Q86X76-4; Sequence=VSP_011545; Name=6; IsoId=Q86X76-5; Sequence=VSP_053711, VSP_053712; Note=Based on a naturally occurring readthrough transcript which produces a NIT1-DEDD fusion protein. The last 4 amino acids of this isoform (PVSS) are encoded by the last DEDD exon. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 2: Mitochondrion {ECO:0000250|UniProtKB:Q8VDK1}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000250|UniProtKB:Q8VDK1}.


uniprotID: Q8N8Q9
geneSymbol: NIPA2
reactome: R-HSA-5223345;
name: Magnesium transporter NIPA2 (Non-imprinted in Prader-Willi/Angelman syndrome region protein 2)
length: 360
go: ENSG00000140157;
sequence:

opentargets:
early endosome [GO:0005769]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; magnesium ion transmembrane transporter activity [GO:0015095]; magnesium ion transport [GO:0015693]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8Q9-1; Sequence=Displayed; Name=2; IsoId=Q8N8Q9-2; Sequence=VSP_044587; Note=Not experimental evidence available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Early endosome {ECO:0000250}. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO:0000250}.


uniprotID: P52952
geneSymbol: NKX2-5
reactome: R-HSA-2032785;R-HSA-5578768;
pdb: 3RKQ;4S0H;
length: 324
go: ENSG00000183072;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Homeobox protein Nkx-2.5 (Cardiac-specific homeobox) (Homeobox protein CSX) (Homeobox protein NK-2 homolog E)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; 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]; protein heterodimerization activity [GO:0046982]; 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]; serum response element binding [GO:0010736]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; adult heart development [GO:0007512]; apoptotic process involved in heart morphogenesis [GO:0003278]; atrial cardiac muscle cell development [GO:0055014]; atrial septum morphogenesis [GO:0060413]; atrioventricular node cell development [GO:0060928]; atrioventricular node cell fate commitment [GO:0060929]; BMP signaling pathway [GO:0030509]; bundle of His development [GO:0003166]; canonical Wnt signaling pathway [GO:0060070]; cardiac conduction system development [GO:0003161]; cardiac muscle cell differentiation [GO:0055007]; cardiac muscle cell proliferation [GO:0060038]; cardiac muscle contraction [GO:0060048]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac ventricle formation [GO:0003211]; cell differentiation [GO:0030154]; embryonic heart tube development [GO:0035050]; embryonic heart tube left/right pattern formation [GO:0060971]; heart looping [GO:0001947]; heart morphogenesis [GO:0003007]; heart trabecula formation [GO:0060347]; hemopoiesis [GO:0030097]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; outflow tract septum morphogenesis [GO:0003148]; pharyngeal system development [GO:0060037]; positive regulation of cardioblast differentiation [GO:0051891]; positive regulation of cell proliferation [GO:0008284]; positive regulation of heart contraction [GO:0045823]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of sodium ion transport [GO:0010765]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; positive regulation of transcription via serum response element binding [GO:0010735]; positive regulation of transcription, DNA-templated [GO:0045893]; proepicardium development [GO:0003342]; pulmonary myocardium development [GO:0003350]; Purkinje myocyte differentiation [GO:0003168]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle cell proliferation [GO:0060043]; regulation of cardiac muscle contraction [GO:0055117]; right ventricular cardiac muscle tissue morphogenesis [GO:0003221]; sarcomere organization [GO:0045214]; septum secundum development [GO:0003285]; spleen development [GO:0048536]; thyroid gland development [GO:0030878]; vasculogenesis [GO:0001570]; ventricular cardiac muscle cell development [GO:0055015]; ventricular cardiac myofibril assembly [GO:0055005]; ventricular septum morphogenesis [GO:0060412]; ventricular trabecula myocardium morphogenesis [GO:0003222]

snps:
rs387906773 rs17052019 rs104893904 rs201442000 rs28936670 rs779548360 rs753937287 rs387906775 rs530270916 rs201362118 rs137852684 rs387906774 rs137852685 rs104893900 rs137852686 rs104893906 rs104893905 rs104893902 rs760528062 rs397515399 rs368366482 rs1223599871 rs375086983 rs137852683 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P52952-1; Sequence=Displayed; Name=2; IsoId=P52952-2; Sequence=VSP_043492, VSP_043493; Note=No experimental confirmation available.; Name=3; IsoId=P52952-3; Sequence=VSP_045481, VSP_045482; Note=No experimental confirmation available.; 


uniprotID: O60551
geneSymbol: NMT2
reactome: R-HSA-174490;R-HSA-2514859;
pdb: 4C2X;
length: 498
go: ENSG00000152465;
drug: DB07838;DB02180;DB02271;
name:
Glycylpeptide N-tetradecanoyltransferase 2 (EC 2.3.1.97) (Myristoyl-CoA:protein N-myristoyltransferase 2) (NMT 2) (Peptide N-myristoyltransferase 2) (Type II N-myristoyltransferase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; Golgi apparatus [GO:0005794]; host cell [GO:0043657]; plasma membrane [GO:0005886]; glycylpeptide N-tetradecanoyltransferase activity [GO:0004379]; intracellular transport of virus [GO:0075733]; N-terminal peptidyl-glycine N-myristoylation [GO:0018008]; regulation of rhodopsin mediated signaling pathway [GO:0022400]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9506952}. Membrane {ECO:0000269|PubMed:9506952}; Peripheral membrane protein {ECO:0000269|PubMed:9506952}.


uniprotID: A6NJU9
geneSymbol: NPIPB13
name: Nuclear pore complex-interacting protein family member B13
length: 1138
opentargets: integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q96PH1
geneSymbol: NOX5
reactome: R-HSA-3299685;
name: NADPH oxidase 5 (EC 1.6.3.-)
length: 765
go: ENSG00000255346;
snps: rs2277552 rs7168025
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; flavin adenine dinucleotide binding [GO:0050660]; heme binding [GO:0020037]; NADP binding [GO:0050661]; proton channel activity [GO:0015252]; superoxide-generating NADPH oxidase activity [GO:0016175]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cellular response to oxidative stress [GO:0034599]; cytokine secretion [GO:0050663]; cytoskeleton-dependent cytokinesis [GO:0061640]; endothelial cell proliferation [GO:0001935]; oxidation-reduction process [GO:0055114]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; regulation of fusion of sperm to egg plasma membrane [GO:0043012]; regulation of proton transport [GO:0010155]; superoxide anion generation [GO:0042554]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=v3; Synonyms=NOX5gamma; IsoId=Q96PH1-1; Sequence=Displayed; Name=v1; Synonyms=NOX5alpha; IsoId=Q96PH1-3; Sequence=VSP_017328; Name=v2; Synonyms=NOX5beta; IsoId=Q96PH1-4; Sequence=VSP_017327, VSP_017328; Name=v4; Synonyms=NOX5delta; IsoId=Q96PH1-2; Sequence=VSP_017327; Name=v5; Synonyms=NOX5epsilon, NOX5S; IsoId=Q96PH1-5; Sequence=VSP_017326; Name=v6; Synonyms=NOX5zeta; IsoId=Q96PH1-6; Sequence=VSP_041619, VSP_017328; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform v2: Endoplasmic reticulum.; SUBCELLULAR LOCATION: Isoform v5: Endoplasmic reticulum.


uniprotID: Q9UM47
geneSymbol: NOTCH3
pdb: 4ZLP;5CZV;5CZX;
length: 2321
go: ENSG00000074181;
reactome:
R-HSA-1912399;R-HSA-1912408;R-HSA-1912420;R-HSA-350054;R-HSA-5083630;R-HSA-9013507;R-HSA-9013508;R-HSA-9017802;

name:
Neurogenic locus notch homolog protein 3 (Notch 3) [Cleaved into: Notch 3 extracellular truncation; Notch 3 intracellular domain]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; signaling receptor activity [GO:0038023]; artery morphogenesis [GO:0048844]; forebrain development [GO:0030900]; glomerular capillary formation [GO:0072104]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron fate commitment [GO:0048663]; Notch signaling pathway [GO:0007219]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription of Notch receptor target [GO:0007221]; transcription initiation from RNA polymerase II promoter [GO:0006367]

snps:
rs193921045 rs28937321 rs773539041 rs137852642 rs797045014 rs28933696 rs147373451 rs28933697 rs775267348 rs137852641 rs267606915 rs28933698 rs11670799 rs201118034 rs75068032 rs769773673 rs777751303 rs1328784046 rs1057519101 rs35769976 rs112197217 rs10408676 rs201680145 rs1209610920 rs367543285 rs1044009 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15350543}; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Notch 3 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus.


uniprotID: O15130
geneSymbol: NPFF
reactome: R-HSA-389397;R-HSA-416476;
length: 113
go: ENSG00000139574;
snps: rs35822762
location: SUBCELLULAR LOCATION: Secreted.
name:
Pro-FMRFamide-related neuropeptide FF (FMRFamide-related peptides) [Cleaved into: Neuropeptide SF (NPSF); Neuropeptide FF (NPFF); Neuropeptide AF (NPAF)]

sequence:
MDSRQAAALLVLLLLIDGGCAEGPGGQQEDQLSAEEDSEPLPPQDAQTSGSLLHYLLQAMERPGRSQAFLFQPQRFGRNTQGSWRNEWLSPRAGEGLNSQFWSLAAPQRFGKK

opentargets:
axon terminus [GO:0043679]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perikaryon [GO:0043204]; postsynapse [GO:0098794]; vesicle [GO:0031982]; G protein-coupled receptor binding [GO:0001664]; neuropeptide hormone activity [GO:0005184]; signaling receptor binding [GO:0005102]; acute inflammatory response to antigenic stimulus [GO:0002438]; chemical synaptic transmission [GO:0007268]; excitatory postsynaptic potential [GO:0060079]; G protein-coupled receptor signaling pathway [GO:0007186]; maternal process involved in female pregnancy [GO:0060135]; negative regulation of appetite [GO:0032099]; negative regulation of heart rate [GO:0010459]; negative regulation of insulin secretion [GO:0046676]; neuropeptide signaling pathway [GO:0007218]; positive regulation of blood pressure [GO:0045777]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of membrane depolarization [GO:0003254]; regulation of sensory perception of pain [GO:0051930]; response to morphine [GO:0043278]; somatostatin secretion [GO:0070253]; spinal cord development [GO:0021510]; vasopressin secretion [GO:0030103]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15130-1; Sequence=Displayed; Name=2; IsoId=O15130-2; Sequence=VSP_056475; Note=No experimental confirmation available.; 


uniprotID: Q99466
geneSymbol: NOTCH4
length: 2003
go: ENSG00000204301;
reactome:
R-HSA-1912399;R-HSA-1912408;R-HSA-1912420;R-HSA-350054;R-HSA-5083630;R-HSA-9013695;R-HSA-9013700;R-HSA-9604323;

name:
Neurogenic locus notch homolog protein 4 (Notch 4) (hNotch4) [Cleaved into: Notch 4 extracellular truncation; Notch 4 intracellular domain]

sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; protein heterodimerization activity [GO:0046982]; signaling receptor activity [GO:0038023]; branching involved in blood vessel morphogenesis [GO:0001569]; cell differentiation [GO:0030154]; cell fate determination [GO:0001709]; endothelial cell morphogenesis [GO:0001886]; hemopoiesis [GO:0030097]; mammary gland development [GO:0030879]; miRNA mediated inhibition of translation [GO:0035278]; morphogenesis of a branching structure [GO:0001763]; negative regulation of cell differentiation [GO:0045596]; negative regulation of endothelial cell differentiation [GO:0045602]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription of Notch receptor target [GO:0007221]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription initiation from RNA polymerase II promoter [GO:0006367]; vasculature development [GO:0001944]; wound healing [GO:0042060]

snps:
rs915894 rs2071282 rs2071282 rs8192585 rs520692 rs520803 rs422951 rs8192591 rs3132961 rs2022060 rs17604492 rs8192573 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q99466-1; Sequence=Displayed; Name=2; IsoId=Q99466-2; Sequence=VSP_001406; Name=3; IsoId=Q99466-3; Sequence=VSP_001407; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Notch 4 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus.


uniprotID: A4D2B8
geneSymbol: PMS2P1
length: 440
name:
Putative postmeiotic segregation increased 2-like protein 1 (PMS2-related protein 2) (Postmeiotic segregation increased 2-like protein 13) (Postmeiotic segregation increased 2-like protein 6) (Postmeiotic segregation increased 2-like protein 8) (Postmeiotic segregation increased protein 3) (hPMS3) (Postmeiotic segregation increased protein 8) (Putative postmeiotic segregation increased 2 pseudogene 1)

sequence:

opentargets:
mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; ATPase activity [GO:0016887]; kinase activity [GO:0016301]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; somatic hypermutation of immunoglobulin genes [GO:0016446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A4D2B8-1; Sequence=Displayed; Name=2; IsoId=A4D2B8-2; Sequence=VSP_029389, VSP_029390; Note=No experimental confirmation available.; Name=3; IsoId=A4D2B8-3; Sequence=VSP_038329, VSP_038330; Note=No experimental confirmation available.; 


uniprotID: O95744
geneSymbol: PMS2P2
length: 297
name:
Putative postmeiotic segregation increased 2-like protein 2 (Postmeiotic segregation increased 2-like protein 14) (Postmeiotic segregation increased protein 4) (Putative postmeiotic segregation increased 2 pseudogene 2)

sequence:

opentargets:
mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; ATPase activity [GO:0016887]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; somatic hypermutation of immunoglobulin genes [GO:0016446]


uniprotID: Q13401
geneSymbol: PMS2P3
length: 168
name:
Putative postmeiotic segregation increased 2-like protein 3 (PMS2-related protein 3) (Postmeiotic segregation increased 2-like protein 9) (Postmeiotic segregation increased protein 5) (Putative postmeiotic segregation increased 2 pseudogene 3)

sequence:
MNTLQGPVSFKDVAVDFTQEEWRQLDPDEKIAYGDVMLENYSHLVSVGYDYHQAKHHHGVEVKEVEQGEEPWIMEGEFPCQHSPEPAKAIKPIDRKSVHQICSGPVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLISFSSETSHM

opentargets:
mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; ATPase activity [GO:0016887]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; regulation of transcription, DNA-templated [GO:0006355]; somatic hypermutation of immunoglobulin genes [GO:0016446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13401-1; Sequence=Displayed; Name=2; IsoId=Q13401-2; Sequence=VSP_040290; Note=No experimental confirmation available.; Name=3; IsoId=Q13401-3; Sequence=VSP_040289; 


uniprotID: A8MQ11
geneSymbol: PMS2P5
length: 134
name:
Postmeiotic segregation increased 2-like protein 5 (Postmeiotic segregation increased protein 4) (Postmeiotic segregation increased protein 7) (Putative postmeiotic segregation increased 2 pseudogene 5)

sequence:
MWGRRRKLRRLNDVTISTCHVSAKVGTRLVFDHDGKIIQKTPYPHPRGTTVSVKQLFSTLPVRHKEFQRNIKKKRACFPFAFCRDCQFLEGSPAMLPVQPAKLTPRSTPPHPCSLEDNVITVFSSVKNGPGSSR

opentargets:
mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; ATPase activity [GO:0016887]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; somatic hypermutation of immunoglobulin genes [GO:0016446]


uniprotID: Q13670
geneSymbol: PMS2P11
length: 270
name:
Putative postmeiotic segregation increased 2-like protein 11 (PMS2-related protein 6) (Putative postmeiotic segregation increased 2 pseudogene 11)

sequence:

opentargets:
mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; ATPase activity [GO:0016887]; kinase activity [GO:0016301]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; somatic hypermutation of immunoglobulin genes [GO:0016446]


uniprotID: O43808
geneSymbol: SLC25A17
reactome: R-HSA-389599;
length: 307
go: ENSG00000100372;
snps: rs12159334
location: SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane; Multi-pass membrane protein.
name:
Peroxisomal membrane protein PMP34 (34 kDa peroxisomal membrane protein) (Solute carrier family 25 member 17)

sequence:

opentargets:
integral component of peroxisomal membrane [GO:0005779]; membrane [GO:0016020]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; adenine nucleotide transmembrane transporter activity [GO:0000295]; ADP transmembrane transporter activity [GO:0015217]; AMP transmembrane transporter activity [GO:0080122]; ATP transmembrane transporter activity [GO:0005347]; chaperone binding [GO:0051087]; coenzyme A transmembrane transporter activity [GO:0015228]; FAD transmembrane transporter activity [GO:0015230]; FMN transmembrane transporter activity [GO:0044610]; NAD transmembrane transporter activity [GO:0051724]; ATP transport [GO:0015867]; fatty acid alpha-oxidation [GO:0001561]; fatty acid beta-oxidation [GO:0006635]; fatty acid transport [GO:0015908]


uniprotID: A0A1W2PS18
geneSymbol: PMIS2
name: Transmembrane protein PMIS2
length: 150
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:
MALKPPSATQPAPNAPATPDAPPTTGDPGASAAPGSPTTTGGPGAPAEVPQEPQEPTQTPEELAFYAPNYLCLTIFAILLFPPFGLAALYFSYEGSWTQKPTSMLPPLQTMKANQNSEWEEAYINSGRTGWFGAFVVMIGLGIIYGLVLY


uniprotID: Q6X4W1
geneSymbol: NSMF
length: 530
go: ENSG00000165802;
snps: rs770597015 rs121918340 rs34177733
name:
NMDA receptor synaptonuclear signaling and neuronal migration factor (Nasal embryonic luteinizing hormone-releasing hormone factor) (Nasal embryonic LHRH factor)

sequence:

opentargets:
apical dendrite [GO:0097440]; cell junction [GO:0030054]; cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; membrane [GO:0016020]; neuron projection [GO:0043005]; nuclear envelope [GO:0005635]; nuclear euchromatin [GO:0005719]; nuclear matrix [GO:0016363]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; calcium-dependent protein binding [GO:0048306]; cellular response to amino acid stimulus [GO:0071230]; cellular response to electrical stimulus [GO:0071257]; cellular response to gonadotropin stimulus [GO:0071371]; positive regulation of neuron migration [GO:2001224]; positive regulation of protein dephosphorylation [GO:0035307]; regulation of dendrite morphogenesis [GO:0048814]; regulation of neuron apoptotic process [GO:0043523]; regulation of neuronal synaptic plasticity [GO:0048168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=NELF-v1; IsoId=Q6X4W1-1; Sequence=Displayed; Name=2; Synonyms=NELF-v2; IsoId=Q6X4W1-2; Sequence=VSP_014759; Name=3; Synonyms=NELF-v3; IsoId=Q6X4W1-3; Sequence=VSP_014760; Name=4; Synonyms=NELF-v4; IsoId=Q6X4W1-4; Sequence=VSP_014761; Name=5; Synonyms=NELF-v5; IsoId=Q6X4W1-5; Sequence=VSP_014762, VSP_014763; Name=6; IsoId=Q6X4W1-6; Sequence=VSP_014759, VSP_014760; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20025934}. Nucleus envelope {ECO:0000250}. Nucleus membrane {ECO:0000250}. Nucleus matrix {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:20025934}. Cytoplasm, cell cortex {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:20025934}; Peripheral membrane protein {ECO:0000269|PubMed:20025934}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Membrane {ECO:0000250}. Note=Found on the outside of the luteinizing-hormone-releasing hormone (LHRH) cell membrane and axons projecting from the olfactory pit and epithelium. Associates with transcriptionally active chromatin regions. Detected at the nuclear membranes of CA1 neurons. Cortical cytoskeleton. Localized in proximal apical dendrites. Colocalizes with CABP1 in dendrites and dendritic spines. Myristoylation is a prerequisite for extranuclear localization. Translocates from dendrites to the nucleus during NMDA receptor-dependent long-term potentiation (LTP) induction of synaptic transmission at Schaffer collateral/CA1 synapses of hippocampal primary neurons and in a importin-dependent manner (By similarity). {ECO:0000250}.


uniprotID: Q63ZY6
geneSymbol: NSUN5P2
length: 315
snps: rs400282 rs395127 rs17145838
name:
Putative methyltransferase NSUN5C (EC 2.1.1.-) (NOL1/NOP2/Sun domain family member 5C) (Williams-Beuren syndrome chromosomal region 20C protein)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q63ZY6-1; Sequence=Displayed; Name=2; IsoId=Q63ZY6-2; Sequence=VSP_021761, VSP_021762; Name=3; IsoId=Q63ZY6-4; Sequence=VSP_021759, VSP_021765; Name=4; IsoId=Q63ZY6-5; Sequence=VSP_021765; Name=5; IsoId=Q63ZY6-6; Sequence=VSP_021763; 


uniprotID: Q15738
geneSymbol: NSDHL
reactome: R-HSA-191273;
name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (EC 1.1.1.170) (Protein H105e3)
length: 373
go: ENSG00000147383;
drug: DB00157;
snps: rs104894909 rs104894904 rs104894901
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; 3-beta-hydroxy-delta5-steroid dehydrogenase activity [GO:0003854]; 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity [GO:0103066]; 4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity [GO:0103067]; C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity [GO:0000252]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity [GO:0047012]; cholesterol biosynthetic process [GO:0006695]; cholesterol metabolic process [GO:0008203]; hair follicle development [GO:0001942]; labyrinthine layer blood vessel development [GO:0060716]; smoothened signaling pathway [GO:0007224]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14506130}; Single-pass membrane protein {ECO:0000269|PubMed:14506130}. Lipid droplet {ECO:0000269|PubMed:14506130}. Note=Trafficking through the Golgi is necessary for ER membrane localization.


uniprotID: Q8WV22
geneSymbol: NSMCE1
reactome: R-HSA-3108214;
pdb: 2CT0;5HVQ;5WY5;
length: 266
go: ENSG00000169189;
snps: rs7195194 rs17856580
name:
Non-structural maintenance of chromosomes element 1 homolog (Non-SMC element 1 homolog) (EC 2.3.2.27)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Smc5-Smc6 complex [GO:0030915]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983]; ubiquitin-protein transferase activity [GO:0004842]; double-strand break repair via homologous recombination [GO:0000724]; intracellular signal transduction [GO:0035556]; positive regulation of response to DNA damage stimulus [GO:2001022]; postreplication repair [GO:0006301]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18086888}. Chromosome, telomere {ECO:0000305|PubMed:18086888}.


uniprotID: Q9Y328
geneSymbol: NSG2
length: 171
go: ENSG00000170091;
name:
Neuronal vesicle trafficking-associated protein 2 (Neuron-specific protein family member 2) (Protein p19) (Hmp19)

sequence:
MVKLNSNPSEKGTKPPSVEDGFQTVPLITPLEVNHLQLPAPEKVIVKTRTEYQPEQKNKGKFRVPKIAEFTVTILVSLALAFLACIVFLVVYKAFTYDHSCPEGFVYKHKRCIPASLDAYYSSQDPNSRSRFYTVISHYSVAKQSTARAIGPWLSAAAVIHEPKPPKTQGH

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; dendrite [GO:0030425]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; Golgi cis cisterna membrane [GO:1990674]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lysosomal lumen [GO:0043202]; multivesicular body membrane [GO:0032585]; trans-Golgi network membrane [GO:0032588]; clathrin light chain binding [GO:0032051]; clathrin coat assembly [GO:0048268]; dopamine receptor signaling pathway [GO:0007212]; endosomal transport [GO:0016197]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q3KR51}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q3KR51}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:Q3KR51}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q3KR51}. Endosome membrane {ECO:0000250|UniProtKB:Q3KR51}. Early endosome membrane {ECO:0000250|UniProtKB:Q3KR51}. Late endosome membrane {ECO:0000250|UniProtKB:Q3KR51}. Lysosome lumen {ECO:0000250|UniProtKB:Q3KR51}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P47759}. Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:P47759}. Endosome, multivesicular body membrane {ECO:0000250|UniProtKB:P47759}. Note=Endocytosed from the cell surface, thus entered into early endosomes, trafficks to late endosomes and degradates in lysosomes (By similarity). Mainly Golgi stack, but also found in small vacuolar organelles and multivesicular bodies. Found in both stationary and motile endosomes (By similarity). {ECO:0000250|UniProtKB:P47759, ECO:0000250|UniProtKB:Q3KR51}.


uniprotID: O43920
geneSymbol: NDUFS5
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;5XTH;5XTI;
length: 106
go: ENSG00000168653;
drug: DB00157;
snps: rs201212110
name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 (Complex I-15 kDa) (CI-15 kDa) (NADH-ubiquinone oxidoreductase 15 kDa subunit)

sequence:
MPFLDIQKRFGLNIDRWLTIQSGEQPYKMAGRCHAFEKEWIECAHGIGYTRAEKECKIEYDDFVECLLRQKTMRRAGTIRKQRDKLIKEGKYTPPPHHIGKGEPRP

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; 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}; Peripheral membrane protein {ECO:0000305}. Mitochondrion intermembrane space {ECO:0000305}.


uniprotID: Q07444
geneSymbol: KLRC3
name: NKG2-E type II integral membrane protein (NK cell receptor E) (NKG2-E-activating NK receptor)
length: 240
go: ENSG00000205810;
snps: rs2682489 rs796361824 rs2682490 rs28626640 rs2682494 rs1138437 rs2682495
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; transmembrane signaling receptor activity [GO:0004888]; cellular defense response [GO:0006968]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=NKG2-E; IsoId=Q07444-1; Sequence=Displayed; Name=NKG2-H; IsoId=Q07444-2; Sequence=VSP_003067; 


uniprotID: P08949
geneSymbol: NMB
reactome: R-HSA-375276;R-HSA-416476;
pdb: 1C98;1C9A;
name: Neuromedin-B [Cleaved into: Neuromedin-B-32; Neuromedin-B]
length: 121
go: ENSG00000197696;
snps: rs1051168
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MARRAGGARMFGSLLLFALLAAGVAPLSWDLPEPRSRASKIRVHSRGNLWATGHFMGKKSLEPSSPSPLGTAPHTSLRDQRLQLSHDLLGILLLKKALGVSLSRPAPQIQYRRLLVQILQK

opentargets:
extracellular region [GO:0005576]; neuron projection [GO:0043005]; hormone activity [GO:0005179]; neuromedin B receptor binding [GO:0031710]; arachidonic acid secretion [GO:0050482]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; negative regulation of hormone secretion [GO:0046888]; neuropeptide signaling pathway [GO:0007218]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of hormone secretion [GO:0046887]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08949-1; Sequence=Displayed; Name=2; IsoId=P08949-2; Sequence=VSP_000548; Note=No experimental confirmation available.; 


uniprotID: Q13287
geneSymbol: NMI
name: N-myc-interactor (Nmi) (N-myc and STAT interactor)
length: 307
go: ENSG00000123609;
snps: rs1048135
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; transcription coregulator activity [GO:0003712]; inflammatory response [GO:0006954]; interferon-gamma-mediated signaling pathway [GO:0060333]; JAK-STAT cascade [GO:0007259]; negative regulation of innate immune response [GO:0045824]; negative regulation of interferon-alpha biosynthetic process [GO:0045355]; negative regulation of interferon-beta biosynthetic process [GO:0045358]; positive regulation of protein K48-linked ubiquitination [GO:1902524]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q6P988
geneSymbol: NOTUM
reactome: R-HSA-381426;R-HSA-5362798;R-HSA-8957275;
pdb: 4UYU;4UYW;4UYZ;4UZ1;4UZ5;4UZ6;4UZ7;4UZ9;4UZA;4UZL;4UZQ;4WBH;
name: Palmitoleoyl-protein carboxylesterase NOTUM (EC 3.1.1.98) (hNOTUM)
length: 496
go: ENSG00000185269;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9VUX3}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; palmitoleyl hydrolase activity [GO:1990699]; phospholipase C activity [GO:0004629]; cellular protein metabolic process [GO:0044267]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of Wnt signaling pathway [GO:0030178]; post-translational protein modification [GO:0043687]; protein depalmitoleylation [GO:1990697]; Wnt signaling pathway [GO:0016055]


uniprotID: P51805
geneSymbol: PLXNA3
reactome: R-HSA-399954;R-HSA-399955;R-HSA-399956;
name: Plexin-A3 (Plexin-4) (Semaphorin receptor SEX)
length: 1871
snps: rs34585333 rs36115591 rs5945430
sequence:

opentargets:
cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; semaphorin receptor activity [GO:0017154]; transmembrane signaling receptor activity [GO:0004888]; branchiomotor neuron axon guidance [GO:0021785]; facial nerve structural organization [GO:0021612]; hippocampus development [GO:0021766]; multicellular organism development [GO:0007275]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of cell adhesion [GO:0007162]; neuron projection extension [GO:1990138]; positive regulation of axonogenesis [GO:0050772]; positive regulation of cytoskeleton organization [GO:0051495]; pyramidal neuron development [GO:0021860]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; trigeminal nerve structural organization [GO:0021637]


uniprotID: Q99457
geneSymbol: NAP1L3
name: Nucleosome assembly protein 1-like 3
length: 506
go: ENSG00000186310;
opentargets: nucleus [GO:0005634]; nucleosome assembly [GO:0006334]
snps: rs1045686
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:


uniprotID: O15031
geneSymbol: PLXNB2
pdb: 4E71;
name: Plexin-B2 (MM1)
length: 1838
go: ENSG00000196576;
snps: rs28379706 rs11547731
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; semaphorin receptor complex [GO:0002116]; semaphorin receptor activity [GO:0017154]; brain development [GO:0007420]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of cell adhesion [GO:0007162]; neural tube closure [GO:0001843]; neuroblast proliferation [GO:0007405]; positive regulation of axonogenesis [GO:0050772]; positive regulation of neuron projection development [GO:0010976]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of neuron migration [GO:2001222]; regulation of protein phosphorylation [GO:0001932]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12533544}; Single-pass type I membrane protein {ECO:0000269|PubMed:12533544}.


uniprotID: Q9UHC9
geneSymbol: NPC1L1
reactome: R-HSA-8963678;
pdb: 3QNT;
name: NPC1-like intracellular cholesterol transporter 1 (Niemann-Pick C1-like protein 1)
length: 1359
go: ENSG00000015520;
drug: DB00973;
snps: rs119457968 rs1468384 rs52815063 rs217435
sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cytoplasmic vesicle membrane [GO:0030659]; plasma membrane [GO:0005886]; spanning component of plasma membrane [GO:0044214]; drug binding [GO:0008144]; myosin V binding [GO:0031489]; Rab GTPase binding [GO:0017137]; cellular response to sterol depletion [GO:0071501]; cholesterol biosynthetic process [GO:0006695]; cholesterol transport [GO:0030301]; intestinal cholesterol absorption [GO:0030299]; intestinal lipid absorption [GO:0098856]; lipoprotein metabolic process [GO:0042157]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHC9-1; Sequence=Displayed; Name=2; Synonyms=NPC1L1DELTAE15; IsoId=Q9UHC9-2; Sequence=VSP_015314; Name=3; Synonyms=NPCL1T; IsoId=Q9UHC9-3; Sequence=VSP_015312, VSP_015313; Name=4; IsoId=Q9UHC9-4; Sequence=VSP_054503, VSP_015314; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Cell membrane {ECO:0000250|UniProtKB:Q6T3U3}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Note=Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein (By similarity). According to PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5. {ECO:0000250}.


uniprotID: A6NHN6
geneSymbol: NPIPB15
length: 443
opentargets: extracellular region [GO:0005576]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Nuclear pore complex-interacting protein family member B15 (Nuclear pore complex-interacting protein-like 2)

sequence:


uniprotID: Q8NG41
geneSymbol: NPB
reactome: R-HSA-375276;R-HSA-418594;
length: 125
go: ENSG00000183979;
location: SUBCELLULAR LOCATION: Secreted.
name:
Neuropeptide B (Preproprotein L7) (hPPL7) [Cleaved into: Neuropeptide B-23 (NPB23) (hL7); Neuropeptide B-29 (NPB29) (hL7C)]

sequence:
MARSATLAAAALALCLLLAPPGLAWYKPAAGHSSYSVGRAAGLLSGLRRSPYARRSQPYRGAEPPGGAGASPELQLHPRLRSLAVCVQDVAPNLQRCERLPDGRGTYQCKANVFLSLRAADCLAA

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


uniprotID: Q96IY1
geneSymbol: NSL1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 4NF9;5LSI;5LSJ;5LSK;
name: Kinetochore-associated protein NSL1 homolog
length: 281
go: ENSG00000117697;
snps: rs17856201 rs15702
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; MIS12/MIND type complex [GO:0000444]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; cell division [GO:0051301]; mitotic sister chromatid segregation [GO:0000070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IY1-1; Sequence=Displayed; Name=2; IsoId=Q96IY1-2; Sequence=VSP_045741; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270}. Note=Associated with the kinetochore (PubMed:15502821, PubMed:16585270).


uniprotID: Q16620
geneSymbol: NTRK2
pdb: 1HCF;1WWB;2MFQ;4ASZ;4AT3;4AT4;4AT5;5MO9;
length: 822
go: ENSG00000148053;
drug: DB00321;
snps: rs1047856 rs886041091 rs1075108 rs121434633 rs1324578301
reactome:
R-HSA-187024;R-HSA-9024909;R-HSA-9025046;R-HSA-9026357;R-HSA-9026519;R-HSA-9026527;R-HSA-9028335;R-HSA-9028731;R-HSA-9032500;R-HSA-9032759;R-HSA-9032845;

name:
BDNF/NT-3 growth factors receptor (EC 2.7.10.1) (GP145-TrkB) (Trk-B) (Neurotrophic tyrosine kinase receptor type 2) (TrkB tyrosine kinase) (Tropomyosin-related kinase B)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; receptor complex [GO:0043235]; terminal bouton [GO:0043195]; ATP binding [GO:0005524]; brain-derived neurotrophic factor binding [GO:0048403]; brain-derived neurotrophic factor-activated receptor activity [GO:0060175]; neurotrophin binding [GO:0043121]; neurotrophin receptor activity [GO:0005030]; protein homodimerization activity [GO:0042803]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; activation of phospholipase C activity [GO:0007202]; brain-derived neurotrophic factor receptor signaling pathway [GO:0031547]; cell differentiation [GO:0030154]; cellular response to amino acid stimulus [GO:0071230]; cellular response to nerve growth factor stimulus [GO:1990090]; central nervous system neuron development [GO:0021954]; cerebral cortex development [GO:0021987]; circadian rhythm [GO:0007623]; feeding behavior [GO:0007631]; glutamate secretion [GO:0014047]; learning [GO:0007612]; long-term synaptic potentiation [GO:0060291]; mechanoreceptor differentiation [GO:0042490]; myelination in peripheral nervous system [GO:0022011]; negative regulation of anoikis [GO:2000811]; negative regulation of apoptotic process [GO:0043066]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of signal transduction [GO:0009968]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; neuronal action potential propagation [GO:0019227]; neurotrophin TRK receptor signaling pathway [GO:0048011]; oligodendrocyte differentiation [GO:0048709]; peripheral nervous system neuron development [GO:0048935]; positive regulation of axonogenesis [GO:0050772]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuron projection development [GO:0010976]; positive regulation of non-membrane spanning protein tyrosine kinase activity [GO:1903997]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of synapse assembly [GO:0051965]; protein autophosphorylation [GO:0046777]; regulation of GTPase activity [GO:0043087]; regulation of protein kinase B signaling [GO:0051896]; retina development in camera-type eye [GO:0060041]; retinal rod cell development [GO:0046548]; trans-synaptic signaling by BDNF, modulating synaptic transmission [GO:0099183]; trans-synaptic signaling by neuropeptide, modulating synaptic transmission [GO:0099551]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=TrkB; Synonyms=gp145-TrkB; IsoId=Q16620-1; Sequence=Displayed; Name=TrkB-T1; IsoId=Q16620-2; Sequence=VSP_002901, VSP_002902; Note=Non-catalytic isoform.; Name=TrkB-T-Shc; IsoId=Q16620-3; Sequence=VSP_002903, VSP_002904; Name=4; IsoId=Q16620-4; Sequence=VSP_041942; Name=5; IsoId=Q16620-5; Sequence=VSP_041942, VSP_002903, VSP_002904; Name=TrkB-T-TK; IsoId=Q16620-6; Sequence=VSP_042178, VSP_042179; Name=TrkB-N-T1; IsoId=Q16620-7; Sequence=VSP_042177, VSP_002901, VSP_002902; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P15209}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P15209}. Endosome membrane {ECO:0000250|UniProtKB:P15209}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P15209}. Early endosome membrane {ECO:0000250|UniProtKB:P15209}. Cell projection, axon {ECO:0000250|UniProtKB:Q63604}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63604}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q63604}. Note=Internalized to endosomes upon ligand-binding. {ECO:0000250|UniProtKB:P15209}.


uniprotID: Q12769
geneSymbol: NUP160
pdb: 5A9Q;
name: Nuclear pore complex protein Nup160 (160 kDa nucleoporin) (Nucleoporin Nup160)
length: 1436
go: ENSG00000030066;
snps: rs2305984 rs3816605
sequence:

opentargets:
cytosol [GO:0005829]; nuclear envelope [GO:0005635]; nuclear pore [GO:0005643]; nuclear pore outer ring [GO:0031080]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12769-1; Sequence=Displayed; Name=2; IsoId=Q12769-2; Sequence=VSP_007093, VSP_007094; Name=3; IsoId=Q12769-3; Sequence=VSP_037350, VSP_037351, VSP_037352, VSP_037353; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:11564755, ECO:0000269|PubMed:11684705}.


uniprotID: Q96CW9
geneSymbol: NTNG2
reactome: R-HSA-163125;
pdb: 3TBD;3ZYG;3ZYI;
name: Netrin-G2 (Laminet-2)
length: 530
go: ENSG00000196358;
snps: rs4962173
sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; anchored component of presynaptic active zone membrane [GO:0099029]; axon [GO:0030424]; cytosol [GO:0005829]; extracellular region [GO:0005576]; Flemming body [GO:0090543]; glutamatergic synapse [GO:0098978]; intercellular bridge [GO:0045171]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; axonogenesis [GO:0007409]; modulation of chemical synaptic transmission [GO:0050804]; postsynaptic specialization assembly [GO:0098698]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CW9-1; Sequence=Displayed; Name=2; IsoId=Q96CW9-2; Sequence=VSP_013147, VSP_013148; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21946559}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:21946559}; Extracellular side {ECO:0000269|PubMed:21946559}.


uniprotID: Q99650
geneSymbol: OSMR
reactome: R-HSA-6788467;
length: 979
go: ENSG00000145623;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Oncostatin-M-specific receptor subunit beta (Interleukin-31 receptor subunit beta) (IL-31 receptor subunit beta) (IL-31R subunit beta) (IL-31R-beta) (IL-31RB)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; external side of plasma membrane [GO:0009897]; oncostatin-M receptor complex [GO:0005900]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; growth factor binding [GO:0019838]; cytokine-mediated signaling pathway [GO:0019221]; oncostatin-M-mediated signaling pathway [GO:0038165]; positive regulation of acute inflammatory response [GO:0002675]; positive regulation of cell proliferation [GO:0008284]; response to cytokine [GO:0034097]

snps:
rs34675408 rs17855841 rs10941412 rs2278329 rs63750560 rs387906821 rs63750567 rs387906822 rs387906823 rs3749737 rs34080825 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99650-1; Sequence=Displayed; Name=2; IsoId=Q99650-2; Sequence=VSP_021527, VSP_021528; 


uniprotID: Q9NRP0
geneSymbol: OSTC
name: Oligosaccharyltransferase complex subunit OSTC (Hydrophobic protein HSF-28)
length: 149
go: ENSG00000198856;
sequence:
METLYRVPFLVLECPNLKLKKPPWLHMPSAMTVYALVVVSYFLITGGIIYDVIVEPPSVGSMTDEHGHQRPVAFLAYRVNGQYIMEGLASSFLFTMGGLGFIILDRSNAPNIPKLNRFLLLFIGFVCVLLSFFMARVFMRMKLPGYLMG

opentargets:
integral component of membrane [GO:0016021]; oligosaccharyltransferase complex [GO:0008250]; protein N-linked glycosylation via asparagine [GO:0018279]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRP0-1; Sequence=Displayed; Name=2; IsoId=Q9NRP0-2; Sequence=VSP_047376; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:21768116}. Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9NWU1
geneSymbol: OXSM
pdb: 2C9H;2IWY;2IWZ;
name: 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial (EC 2.3.1.41) (Beta-ketoacyl-ACP synthase)
length: 459
go: ENSG00000151093;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15668256}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; 3-oxoacyl-[acyl-carrier-protein] synthase activity [GO:0004315]; acyl-CoA metabolic process [GO:0006637]; medium-chain fatty acid biosynthetic process [GO:0051792]; short-chain fatty acid biosynthetic process [GO:0051790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWU1-1; Sequence=Displayed; Name=2; IsoId=Q9NWU1-2; Sequence=VSP_041671; 


uniprotID: P51582
geneSymbol: P2RY4
reactome: R-HSA-417957;R-HSA-418594;
pdb: 2B6Q;
name: P2Y purinoceptor 4 (P2Y4) (P2P) (Uridine nucleotide receptor) (UNR)
length: 365
go: ENSG00000186912;
snps: rs1152186 rs1152187 rs1152188 rs3829709
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic active zone membrane [GO:0099059]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; uridine nucleotide receptor activity [GO:0015065]; UTP-activated nucleotide receptor activity [GO:0045030]; cellular response to ATP [GO:0071318]; cellular response to prostaglandin E stimulus [GO:0071380]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of presynaptic cytosolic calcium ion concentration [GO:0099509]; regulation of synaptic vesicle exocytosis [GO:2000300]; transepithelial chloride transport [GO:0030321]


uniprotID: Q15391
geneSymbol: P2RY14
reactome: R-HSA-417957;R-HSA-418594;
pdb: 2B6V;
name: P2Y purinoceptor 14 (P2Y14) (G-protein coupled receptor 105) (UDP-glucose receptor)
length: 338
go: ENSG00000174944;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; UDP-activated nucleotide receptor activity [GO:0045029]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O43422
geneSymbol: THAP12
length: 761
go: ENSG00000137492;
name:
52 kDa repressor of the inhibitor of the protein kinase (p52rIPK) (58 kDa interferon-induced protein kinase-interacting protein) (p58IPK-interacting protein) (Death-associated protein 4) (THAP domain-containing protein 0) (THAP domain-containing protein 12)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983]; negative regulation of cell proliferation [GO:0008285]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O43422-1; Sequence=Displayed; Name=Short; IsoId=O43422-2; Sequence=VSP_004355, VSP_004356; Note=No experimental confirmation available.; 


uniprotID: P32322
geneSymbol: PYCR1
reactome: R-HSA-70614;
pdb: 2GER;2GR9;2GRA;2IZZ;5UAT;5UAU;5UAV;5UAW;5UAX;
name: Pyrroline-5-carboxylate reductase 1, mitochondrial (P5C reductase 1) (P5CR 1) (EC 1.5.1.2)
length: 319
go: ENSG00000183010;
drug: DB00172;DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19648921}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; identical protein binding [GO:0042802]; pyrroline-5-carboxylate reductase activity [GO:0004735]; cellular amino acid biosynthetic process [GO:0008652]; cellular response to oxidative stress [GO:0034599]; L-proline biosynthetic process [GO:0055129]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; proline biosynthetic process [GO:0006561]; regulation of mitochondrial membrane potential [GO:0051881]

snps:
rs121918376 rs121918377 rs139751598 rs121918375 rs121918375 rs281875319 rs121918378 rs281875318 rs121918374 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P32322-1; Sequence=Displayed; Name=2; IsoId=P32322-2; Sequence=VSP_044507; Name=3; IsoId=P32322-3; Sequence=VSP_054616; Note=No experimental confirmation available.; 


uniprotID: Q9UBL9
geneSymbol: P2RX2
reactome: R-HSA-139853;R-HSA-418346;
name: P2X purinoceptor 2 (P2X2) (ATP receptor) (Purinergic receptor)
length: 471
go: ENSG00000187848;
snps: rs587777692 rs202138002
sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ATP-gated ion channel activity [GO:0035381]; extracellularly ATP-gated cation channel activity [GO:0004931]; identical protein binding [GO:0042802]; ligand-gated ion channel activity [GO:0015276]; purinergic nucleotide receptor activity [GO:0001614]; behavioral response to pain [GO:0048266]; blood coagulation [GO:0007596]; cation transport [GO:0006812]; detection of hypoxic conditions in blood by carotid body chemoreceptor signaling [GO:0003029]; ion transmembrane transport [GO:0034220]; neuromuscular junction development [GO:0007528]; neuromuscular synaptic transmission [GO:0007274]; peristalsis [GO:0030432]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of calcium-mediated signaling [GO:0050850]; protein homooligomerization [GO:0051260]; response to ATP [GO:0033198]; response to carbohydrate [GO:0009743]; response to hypoxia [GO:0001666]; response to ischemia [GO:0002931]; sensory perception of sound [GO:0007605]; sensory perception of taste [GO:0050909]; skeletal muscle fiber development [GO:0048741]; urinary bladder smooth muscle contraction [GO:0014832]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=A; IsoId=Q9UBL9-1; Sequence=Displayed; Name=B; IsoId=Q9UBL9-2; Sequence=VSP_004499; Name=C; IsoId=Q9UBL9-3; Sequence=VSP_004497; Name=D; IsoId=Q9UBL9-4; Sequence=VSP_004498; Name=H; IsoId=Q9UBL9-5; Sequence=VSP_004495; Name=I; IsoId=Q9UBL9-6; Sequence=VSP_004496; Name=K; IsoId=Q9UBL9-7; Sequence=VSP_004497, VSP_014135, VSP_004499; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23345450}; Multi-pass membrane protein {ECO:0000269|PubMed:23345450}. Note=Localizes to the apical membranes of hair cells in the organ of Corti.


uniprotID: P56373
geneSymbol: P2RX3
reactome: R-HSA-139853;R-HSA-418346;
pdb: 5SVJ;5SVK;5SVL;5SVM;5SVP;5SVQ;5SVR;5SVS;5SVT;5YVE;
name: P2X purinoceptor 3 (P2X3) (ATP receptor) (Purinergic receptor)
length: 397
go: ENSG00000109991;
snps: rs2276038
sequence:

opentargets:
dendritic spine [GO:0043197]; Golgi apparatus [GO:0005794]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; rough endoplasmic reticulum [GO:0005791]; Schaffer collateral - CA1 synapse [GO:0098685]; terminal bouton [GO:0043195]; ATP binding [GO:0005524]; ATP-gated ion channel activity [GO:0035381]; extracellularly ATP-gated cation channel activity [GO:0004931]; purinergic nucleotide receptor activity [GO:0001614]; behavioral response to formalin induced pain [GO:0061368]; blood coagulation [GO:0007596]; cation transport [GO:0006812]; cellular response to ATP [GO:0071318]; ion transmembrane transport [GO:0034220]; monovalent inorganic cation transport [GO:0015672]; neuromuscular synaptic transmission [GO:0007274]; neuronal action potential [GO:0019228]; peristalsis [GO:0030432]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of sensory perception of pain [GO:1904058]; protein homotrimerization [GO:0070207]; regulation of synaptic plasticity [GO:0048167]; response to carbohydrate [GO:0009743]; response to cold [GO:0009409]; response to heat [GO:0009408]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; sensory perception of taste [GO:0050909]; signal transduction [GO:0007165]; urinary bladder smooth muscle contraction [GO:0014832]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27626375}; Multi-pass membrane protein {ECO:0000269|PubMed:27626375}.


uniprotID: Q9BTU6
geneSymbol: PI4K2A
reactome: R-HSA-1660499;R-HSA-1660514;R-HSA-1660516;
pdb: 4HND;4HNE;4PLA;4YC4;5EUT;5I0N;
length: 479
go: ENSG00000155252;
name:
Phosphatidylinositol 4-kinase type 2-alpha (EC 2.7.1.67) (Phosphatidylinositol 4-kinase type II-alpha)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendrite [GO:0030425]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; growing cell tip [GO:0035838]; host cell presynaptic membrane [GO:0044231]; integral component of plasma membrane [GO:0005887]; intrinsic component of membrane [GO:0031224]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; protein-containing complex [GO:0032991]; synaptic vesicle membrane [GO:0030672]; trans-Golgi network [GO:0005802]; 1-phosphatidylinositol 4-kinase activity [GO:0004430]; AP-3 adaptor complex binding [GO:0035651]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; basophil degranulation [GO:0002561]; endosome organization [GO:0007032]; Golgi organization [GO:0007030]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol phosphorylation [GO:0046854]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:16443754, ECO:0000269|PubMed:22535966}; Lipid-anchor {ECO:0000269|PubMed:22535966}. Membrane raft {ECO:0000269|PubMed:11279162}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q2TBE6}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q2TBE6}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q2TBE6}. Mitochondrion {ECO:0000250|UniProtKB:Q2TBE6}. Endosome {ECO:0000269|PubMed:16443754, ECO:0000269|PubMed:23146885}. Cytoplasmic vesicle {ECO:0000269|PubMed:16443754}. Membrane {ECO:0000269|PubMed:24675427}; Lipid-anchor {ECO:0000269|PubMed:24675427}. Cell membrane {ECO:0000269|PubMed:11279162, ECO:0000269|PubMed:16443754}. Note=Localized in neuronal cell body. Transported from neuronal cell body to neuron projections in a BLOC-1- and AP-3-complexes-dependent manner. Enriched in neurite tips and neuron projections in a BLOC-1- and AP-3-complexes-dependent manner (By similarity). Found in subdomains of the plasma membrane termed non-caveolar membrane rafts. {ECO:0000250|UniProtKB:Q2TBE6, ECO:0000250|UniProtKB:Q99M64}.


uniprotID: P49720
geneSymbol: PSMB3
length: 205
go: ENSG00000277791;
snps: rs4907
name:
Proteasome subunit beta type-3 (EC 3.4.25.1) (Proteasome chain 13) (Proteasome component C10-II) (Proteasome theta chain)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; viral process [GO:0016032]


uniprotID: P28074
geneSymbol: PSMB5
length: 263
go: ENSG00000100804;
drug: DB00188;DB08889;
snps: rs11543947
pdb:
4R3O;4R67;5A0Q;5GJQ;5GJR;5L4G;5L5W;5L5X;5L5Y;5L5Z;5L60;5L61;5L62;5L63;5L64;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;

name:
Proteasome subunit beta type-5 (EC 3.4.25.1) (Macropain epsilon chain) (Multicatalytic endopeptidase complex epsilon chain) (Proteasome chain 6) (Proteasome epsilon chain) (Proteasome subunit MB1) (Proteasome subunit X)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; endopeptidase activity [GO:0004175]; peptidase activity [GO:0008233]; threonine-type endopeptidase activity [GO:0004298]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; proteolysis [GO:0006508]; response to oxidative stress [GO:0006979]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P28074-1; Sequence=Displayed; Name=2; IsoId=P28074-2; Sequence=VSP_041263; Name=3; IsoId=P28074-3; Sequence=VSP_045686; Note=No experimental confirmation available.; 


uniprotID: Q13310
geneSymbol: PABPC4
length: 644
go: ENSG00000090621;
snps: rs9820
name:
Polyadenylate-binding protein 4 (PABP-4) (Poly(A)-binding protein 4) (Activated-platelet protein 1) (APP-1) (Inducible poly(A)-binding protein) (iPABP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; blood coagulation [GO:0007596]; myeloid cell development [GO:0061515]; regulation of mRNA stability [GO:0043488]; RNA catabolic process [GO:0006401]; RNA processing [GO:0006396]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13310-1; Sequence=Displayed; Name=2; IsoId=Q13310-2; Sequence=VSP_013335; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; Name=3; IsoId=Q13310-3; Sequence=VSP_043357; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: Q9UKS6
geneSymbol: PACSIN3
reactome: R-HSA-8856828;
length: 424
go: ENSG00000165912;
snps: rs7106654
name:
Protein kinase C and casein kinase substrate in neurons protein 3 (SH3 domain-containing protein 6511)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; calcium channel inhibitor activity [GO:0019855]; cytoskeletal protein binding [GO:0008092]; lipid binding [GO:0008289]; phospholipid binding [GO:0005543]; cytoskeleton organization [GO:0007010]; endocytosis [GO:0006897]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of endocytosis [GO:0045806]; plasma membrane tubulation [GO:0097320]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11179684}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Detected at the inner aspect of the plasma membrane in myotubes. {ECO:0000250}.


uniprotID: Q96M98
geneSymbol: PACRG
length: 296
go: ENSG00000112530;
name:
Parkin coregulated gene protein (Molecular chaperone/chaperonin-binding protein) (PARK2 coregulated gene protein)

sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; neuron projection [GO:0043005]; nucleus [GO:0005634]; sperm midpiece [GO:0097225]; vesicle [GO:0031982]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; chaperone binding [GO:0051087]; G protein-coupled receptor binding [GO:0001664]; heat shock protein binding [GO:0031072]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; ubiquitin protein ligase binding [GO:0031625]; cellular response to unfolded protein [GO:0034620]; negative regulation of cell death [GO:0060548]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96M98-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96M98-2; Sequence=VSP_010033; Note=May be due to exon skipping.; 


uniprotID: P09466
geneSymbol: PAEP
pdb: 4R0B;
length: 180
go: ENSG00000122133;
drug: DB02405;DB04077;DB03796;
snps: rs34284195 rs3748210
name:
Glycodelin (GD) (Placental protein 14) (PP14) (Pregnancy-associated endometrial alpha-2 globulin) (PAEG) (PEG) (Progestagen-associated endometrial protein) (Progesterone-associated endometrial protein) (Zona-binding inhibitory factor-1) (ZIF-1)

sequence:
MLCLLLTLGVALVCGVPAMDIPQTKQDLELPKLAGTWHSMAMATNNISLMATLKAPLRVHITSLLPTPEDNLEIVLHRWENNSCVEKKVLGEKTENPKKFKINYTVANEATLLDTDYDNFLFLCLQDTTTPIQSMMCQYLARVLVEDDEIMQGFIRAFRPLPRHLWYLLDLKQMEEPCRF

opentargets:
extracellular region [GO:0005576]; small molecule binding [GO:0036094]; apoptotic process [GO:0006915]; multicellular organism development [GO:0007275]; negative regulation of sperm capacitation [GO:1902491]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of interleukin-13 secretion [GO:2000667]; positive regulation of interleukin-6 secretion [GO:2000778]; regulation of binding of sperm to zona pellucida [GO:2000359]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P09466-1; Sequence=Displayed; Name=2; IsoId=P09466-2; Sequence=VSP_003140; Name=3; IsoId=P09466-3; Sequence=VSP_003141; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12672671, ECO:0000269|PubMed:17192260, ECO:0000269|PubMed:3667877}.


uniprotID: O75459
geneSymbol: PAGE1
length: 146
go: ENSG00000068985;
opentargets: cellular defense response [GO:0006968]
snps: rs1055197
name:
P antigen family member 1 (PAGE-1) (AL5) (G antigen 9) (GAGE-9) (G antigen family B member 1) (Prostate-associated gene 1 protein)

sequence:
MGFLRRLIYRRRPMIYVESSEESSDEQPDEVESPTQSQDSTPAEEREDEGASAAQGQEPEADSQELVQPKTGCELGDGPDTKRVCLRNEEQMKLPAEGPEPEADSQEQVHPKTGCERGDGPDVQELGLPNPEEVKTPEEDEGQSQP


uniprotID: Q02509
geneSymbol: OC90
name: Otoconin-90 (Oc90) (Phospholipase A2 homolog)
length: 477
go: ENSG00000253117;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P81869}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; calcium ion binding [GO:0005509]; phospholipase A2 activity [GO:0004623]; structural molecule activity [GO:0005198]; arachidonic acid secretion [GO:0050482]; lipid catabolic process [GO:0016042]; otolith mineralization [GO:0045299]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02509-1; Sequence=Displayed; Name=2; IsoId=Q02509-3; Sequence=VSP_059516; Note=No experimental confirmation available.; 


uniprotID: P21953
geneSymbol: BCKDHB
reactome: R-HSA-389661;R-HSA-70895;
length: 392
go: ENSG00000083123;
snps: rs35470366 rs371518124 rs79761867 rs386834233
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
pdb:
1DTW;1OLS;1OLU;1OLX;1U5B;1V11;1V16;1V1M;1V1R;1WCI;1X7W;1X7X;1X7Y;1X7Z;1X80;2BEU;2BEV;2BEW;2BFB;2BFC;2BFD;2BFE;2BFF;2J9F;

name:
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component beta chain) (BCKDE1B) (BCKDH E1-beta)

sequence:

opentargets:
mitochondrial alpha-ketoglutarate dehydrogenase complex [GO:0005947]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity [GO:0003863]; alpha-ketoacid dehydrogenase activity [GO:0003826]; branched-chain amino acid catabolic process [GO:0009083]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21953-1; Sequence=Displayed; Name=2; IsoId=P21953-2; Sequence=VSP_056370, VSP_056371; Note=No experimental confirmation available.; 


uniprotID: Q3SX64
geneSymbol: ODF3L2
name: Outer dense fiber protein 3-like protein 2
length: 289
go: ENSG00000181781;
opentargets: cytoplasmic microtubule [GO:0005881]
snps: rs34551779
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SX64-1; Sequence=Displayed; Name=2; IsoId=Q3SX64-2; Sequence=VSP_022778; 


uniprotID: Q17RF5
geneSymbol: ODAPH
name: Odontogenesis associated phosphoprotein
length: 130
go: ENSG00000174792;
snps: rs2306175 rs2306174
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MARRHCFSYWLLVCWLVVTVAEGQEEVFTPPGDSQNNADATDCQIFTLTPPPAPRSPVTRAQPITKTPRCPFHFFPRRPRIHFRFPNRPFVPSRCNHRFPFQPFYWPHRYLTYRYFPRRRLQRGSSSEES

opentargets:
extracellular region [GO:0005576]; positive regulation of biomineral tissue development [GO:0070169]; positive regulation of enamel mineralization [GO:0070175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q17RF5-1; Sequence=Displayed; Name=2; IsoId=Q17RF5-2; Sequence=VSP_046356; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q14990
geneSymbol: ODF1
name: Outer dense fiber protein 1 (Heat shock protein beta-10) (HspB10)
length: 250
go: ENSG00000155087;
snps: rs2916569 rs11995900
sequence:

opentargets:
nucleus [GO:0005634]; outer dense fiber [GO:0001520]; protein domain specific binding [GO:0019904]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]


uniprotID: O75807
geneSymbol: PPP1R15A
reactome: R-HSA-2173788;
pdb: 4XPN;
length: 674
go: ENSG00000087074;
name:
Protein phosphatase 1 regulatory subunit 15A (Growth arrest and DNA damage-inducible protein GADD34) (Myeloid differentiation primary response protein MyD116 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; protein phosphatase type 1 complex [GO:0000164]; protein kinase binding [GO:0019901]; protein phosphatase 1 binding [GO:0008157]; protein phosphatase activator activity [GO:0072542]; protein phosphatase regulator activity [GO:0019888]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; negative regulation of PERK-mediated unfolded protein response [GO:1903898]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; negative regulation of protein dephosphorylation [GO:0035308]; positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation [GO:1903917]; positive regulation of peptidyl-serine dephosphorylation [GO:1902310]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of translational initiation in response to stress [GO:0032058]; protein localization to endoplasmic reticulum [GO:0070972]; regulation of translational initiation by eIF2 alpha dephosphorylation [GO:0036496]; response to endoplasmic reticulum stress [GO:0034976]

snps:
rs564196 rs3786734 rs611251 rs557806 rs610308 rs11541192 rs556052 rs1050166 rs35087747 rs2270946 rs500079 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75807-1; Sequence=Displayed; Name=2; IsoId=O75807-2; Sequence=VSP_057083, VSP_057084; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side {ECO:0000269|PubMed:12556489, ECO:0000269|PubMed:21518769}. Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side {ECO:0000269|PubMed:21518769}. Note=Associates with membranes via an N-terminal amphipathic intramembrane region. {ECO:0000269|PubMed:21518769}.


uniprotID: P12694
geneSymbol: BCKDHA
reactome: R-HSA-389661;R-HSA-70895;
length: 445
go: ENSG00000248098;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
pdb:
1DTW;1OLS;1OLU;1OLX;1U5B;1V11;1V16;1V1M;1V1R;1WCI;1X7W;1X7X;1X7Y;1X7Z;1X80;2BEU;2BEV;2BEW;2BFB;2BFC;2BFD;2BFE;2BFF;2J9F;

name:
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain) (BCKDE1A) (BCKDH E1-alpha)

sequence:

opentargets:
mitochondrial alpha-ketoglutarate dehydrogenase complex [GO:0005947]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity [GO:0003863]; alpha-ketoacid dehydrogenase activity [GO:0003826]; carboxy-lyase activity [GO:0016831]; metal ion binding [GO:0046872]; branched-chain amino acid catabolic process [GO:0009083]

snps:
rs11549936 rs34442879 rs769688327 rs398123503 rs375785084 rs199599175 rs137852871 rs182923857 rs137852872 rs137852870 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P12694-1; Sequence=Displayed; Name=2; IsoId=P12694-2; Sequence=VSP_056156, VSP_056157; Note=No experimental confirmation available.; 


uniprotID: Q8IZS5
geneSymbol: OFCC1
length: 231
opentargets: cytoplasm [GO:0005737]; perinuclear region of cytoplasm [GO:0048471]
snps: rs9477310 rs9383206 rs9477211
name:
Orofacial cleft 1 candidate gene 1 protein (Orofacial clefting chromosomal breakpoint region candidate 1 protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IZS5-1; Sequence=Displayed; Name=2; IsoId=Q8IZS5-2; Sequence=VSP_033937, VSP_033941; Name=3; IsoId=Q8IZS5-3; Sequence=VSP_033938; Name=4; IsoId=Q8IZS5-4; Sequence=VSP_033939; Name=5; IsoId=Q8IZS5-5; Sequence=VSP_033940; 


uniprotID: Q6NWY9
geneSymbol: PRPF40B
length: 871
go: ENSG00000110844;
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:10958656}.
name:
Pre-mRNA-processing factor 40 homolog B (Huntingtin yeast partner C) (Huntingtin-interacting protein C)

sequence:

opentargets:
nuclear speck [GO:0016607]; U1 snRNP [GO:0005685]; U2-type prespliceosome [GO:0071004]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NWY9-1; Sequence=Displayed; Name=2; IsoId=Q6NWY9-2; Sequence=VSP_029117, VSP_029118; Name=3; IsoId=Q6NWY9-3; Sequence=VSP_029119; Name=4; IsoId=Q6NWY9-4; Sequence=VSP_029116, VSP_029120, VSP_029121; 


uniprotID: Q9NRN5
geneSymbol: OLFML3
name: Olfactomedin-like protein 3 (HNOEL-iso) (hOLF44)
length: 406
go: ENSG00000116774;
opentargets: extracellular vesicle [GO:1903561]; multicellular organism development [GO:0007275]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15280020}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NRN5-1; Sequence=Displayed; Name=2; IsoId=Q9NRN5-2; Sequence=VSP_014128, VSP_014129; Name=3; IsoId=Q9NRN5-3; Sequence=VSP_014130, VSP_014131; 


uniprotID: Q5VTA0
geneSymbol: PRAMEF17
name: PRAME family member 17
length: 474
go: ENSG00000204479;
sequence:


uniprotID: Q5SWL8
geneSymbol: PRAMEF19
name: PRAME family member 19
length: 479
sequence:


uniprotID: O60890
geneSymbol: OPHN1
reactome: R-HSA-194840;
name: Oligophrenin-1
length: 802
go: ENSG00000079482;
snps: rs41303733 rs148262378 rs138108344 rs36095561
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; terminal bouton [GO:0043195]; actin binding [GO:0003779]; GTPase activator activity [GO:0005096]; ionotropic glutamate receptor binding [GO:0035255]; phospholipid binding [GO:0005543]; actin cytoskeleton organization [GO:0030036]; axon guidance [GO:0007411]; cell junction assembly [GO:0034329]; cell morphogenesis involved in neuron differentiation [GO:0048667]; cerebellar granule cell differentiation [GO:0021707]; cerebral cortex neuron differentiation [GO:0021895]; establishment of epithelial cell apical/basal polarity [GO:0045198]; maintenance of postsynaptic specialization structure [GO:0098880]; negative regulation of proteasomal protein catabolic process [GO:1901799]; nervous system development [GO:0007399]; neuron differentiation [GO:0030182]; neuron projection development [GO:0031175]; regulation of endocytosis [GO:0030100]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of synaptic transmission, glutamatergic [GO:0051966]; signal transduction [GO:0007165]; substrate-dependent cell migration, cell extension [GO:0006930]; synaptic vesicle endocytosis [GO:0048488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60890-1; Sequence=Displayed; Name=2; IsoId=O60890-2; Sequence=VSP_055336, VSP_055337; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Present in both presynaptic and postsynaptic sites. {ECO:0000250}.


uniprotID: Q92733
geneSymbol: PRCC
reactome: R-HSA-72163;
name: Proline-rich protein PRCC (Papillary renal cell carcinoma translocation-associated gene protein)
length: 491
go: ENSG00000143294;
snps: rs11264542
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11717438}.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mitotic cell cycle checkpoint [GO:0007093]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: Q00LT1
geneSymbol: PRCD
name: Progressive rod-cone degeneration protein
sequence: MCTTLFLLSTLAMLWRRRFANRVQPEPSDVDGAARGSSLDADPQSSGREKEPLK
length: 54
go: ENSG00000214140;
snps: rs121918369 rs375181336 rs767439982
opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; photoreceptor outer segment [GO:0001750]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16938425, ECO:0000269|PubMed:24992209}. Endoplasmic reticulum {ECO:0000269|PubMed:24992209}. Golgi apparatus {ECO:0000269|PubMed:24992209}. Secreted {ECO:0000269|PubMed:24992209}.


uniprotID: Q9UBM4
geneSymbol: OPTC
reactome: R-HSA-1474228;
name: Opticin (Oculoglycan)
length: 332
go: ENSG00000188770;
snps: rs139024490 rs150633473 rs56219555
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular matrix structural constituent [GO:0005201]


uniprotID: Q8NGS3
geneSymbol: OR1J1
reactome: R-HSA-381753;
name: Olfactory receptor 1J1 (Olfactory receptor OR9-18)
length: 322
go: ENSG00000136834;
snps: rs1962091
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P04000
geneSymbol: OPN1LW
reactome: R-HSA-2187335;R-HSA-2453864;R-HSA-418594;R-HSA-419771;
pdb: 1KPX;
name: Long-wave-sensitive opsin 1 (Red cone photoreceptor pigment) (Red-sensitive opsin) (ROP)
length: 364
snps: rs1065421 rs1065422 rs713 rs949431 rs148583295 rs2315122 rs1065440
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; photoreceptor disc membrane [GO:0097381]; photoreceptor outer segment [GO:0001750]; G protein-coupled photoreceptor activity [GO:0008020]; photoreceptor activity [GO:0009881]; cellular response to light stimulus [GO:0071482]; G protein-coupled receptor signaling pathway [GO:0007186]; phototransduction [GO:0007602]; positive regulation of cytokinesis [GO:0032467]; protein-chromophore linkage [GO:0018298]; retinoid metabolic process [GO:0001523]; signal transduction [GO:0007165]; visual perception [GO:0007601]


uniprotID: Q8NGA1
geneSymbol: OR1M1
reactome: R-HSA-381753;
name: Olfactory receptor 1M1 (Olfactory receptor 19-6) (OR19-6) (Olfactory receptor OR19-5)
length: 313
go: ENSG00000170929;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGR9
geneSymbol: OR1N2
reactome: R-HSA-381753;
name: Olfactory receptor 1N2 (Olfactory receptor OR9-23)
length: 330
snps: rs1831370 rs41316976 rs1341044 rs1411272
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGQ3
geneSymbol: OR1S2
reactome: R-HSA-381753;
name: Olfactory receptor 1S2 (Olfactory receptor OR11-231)
length: 325
snps: rs11229281 rs11229277 rs11229278
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96CV9
geneSymbol: OPTN
reactome: R-HSA-2565942;R-HSA-8854214;
pdb: 2LO4;2LUE;3VTV;3VTW;5AAZ;5B83;5EOA;5EOF;
length: 577
go: ENSG00000123240;
name:
Optineurin (E3-14.7K-interacting protein) (FIP-2) (Huntingtin yeast partner L) (Huntingtin-interacting protein 7) (HIP-7) (Huntingtin-interacting protein L) (NEMO-related protein) (Optic neuropathy-inducing protein) (Transcription factor IIIA-interacting protein) (TFIIIA-IntP)

sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; recycling endosome membrane [GO:0055038]; trans-Golgi network [GO:0005802]; identical protein binding [GO:0042802]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; metal ion binding [GO:0046872]; polyubiquitin modification-dependent protein binding [GO:0031593]; protein binding, bridging [GO:0030674]; protein C-terminus binding [GO:0008022]; Rab GTPase binding [GO:0017137]; autophagy [GO:0006914]; cell death [GO:0008219]; cellular response to unfolded protein [GO:0034620]; defense response to Gram-negative bacterium [GO:0050829]; G2/M transition of mitotic cell cycle [GO:0000086]; Golgi organization [GO:0007030]; Golgi ribbon formation [GO:0090161]; Golgi to plasma membrane protein transport [GO:0043001]; innate immune response [GO:0045087]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of receptor recycling [GO:0001920]; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization [GO:0061734]; positive regulation of autophagy [GO:0010508]; positive regulation of xenophagy [GO:1904417]; protein localization to Golgi apparatus [GO:0034067]; signal transduction [GO:0007165]

snps:
rs200710076 rs28939688 rs11258194 rs1346865805 rs750088207 rs761558354 rs7068431 rs523747 rs267606929 rs373425395 rs75654767 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96CV9-1; Sequence=Displayed; Name=2; IsoId=Q96CV9-2; Sequence=VSP_013262; Note=No experimental confirmation available.; Name=3; IsoId=Q96CV9-3; Sequence=VSP_013261; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Golgi apparatus {ECO:0000269|PubMed:27534431, ECO:0000269|PubMed:27538435}. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, autophagosome. Cytoplasmic vesicle. Recycling endosome. Note=Found in the perinuclear region and associates with the Golgi apparatus (PubMed:27534431). Colocalizes with MYO6 and RAB8 at the Golgi complex and in vesicular structures close to the plasma membrane. Localizes to LC3-positive cytoplasmic vesicles upon induction of autophagy. {ECO:0000269|PubMed:27534431}.


uniprotID: P58170
geneSymbol: OR1D5
reactome: R-HSA-381753;
name: Olfactory receptor 1D5 (Olfactory receptor 17-31) (OR17-31)
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: Q8NG85
geneSymbol: OR2L3
reactome: R-HSA-381753;
name: Olfactory receptor 2L3
length: 312
go: ENSG00000198128;
snps: rs6666048 rs6658227 rs6658256 rs55937620
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NG80
geneSymbol: OR2L5
reactome: R-HSA-381753;
name: Olfactory receptor 2L5 (Olfactory receptor 2L11) (Olfactory receptor OR1-53)
length: 312
go: ENSG00000197454;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N349
geneSymbol: OR2L13
reactome: R-HSA-381753;
name: Olfactory receptor 2L13 (Olfactory receptor 2L14)
length: 312
go: ENSG00000196071;
snps: rs12742561 rs45577033
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NG83
geneSymbol: OR2M3
reactome: R-HSA-381753;
name: Olfactory receptor 2M3 (Olfactory receptor 2M6) (Olfactory receptor OR1-54)
length: 312
go: ENSG00000228198;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGP0
geneSymbol: OR4C13
reactome: R-HSA-381753;
name: Olfactory receptor 4C13 (Olfactory receptor OR11-260)
length: 309
snps: rs28378220 rs28662375
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A3KFT3
geneSymbol: OR2M5
reactome: R-HSA-381753;
name: Olfactory receptor 2M5
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O95221
geneSymbol: OR5F1
reactome: R-HSA-381753;
name: Olfactory receptor 5F1 (Olfactory receptor 11-10) (OR11-10) (Olfactory receptor OR11-167)
length: 314
snps: rs35607186 rs11825964 rs2449134
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NKK0
geneSymbol: OR5H1
reactome: R-HSA-381753;
name: Olfactory receptor 5H1 (HTPCRX14)
length: 313
snps: rs5009896 rs9845327 rs9826076 rs9849637
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGV7
geneSymbol: OR5H2
reactome: R-HSA-381753;
name: Olfactory receptor 5H2 (Olfactory receptor OR3-10)
length: 314
go: ENSG00000197938;
snps: rs16839214 rs17787561 rs16839611
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN0
geneSymbol: OR4D5
reactome: R-HSA-381753;
name: Olfactory receptor 4D5 (Olfactory receptor OR11-276)
length: 318
go: ENSG00000171014;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IF00
geneSymbol: OR2T2
reactome: R-HSA-381753;
name: Olfactory receptor 2T2 (Olfactory receptor OR1-43)
length: 324
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH18
geneSymbol: OR5J2
reactome: R-HSA-381753;
name: Olfactory receptor 5J2 (Olfactory receptor OR11-266)
length: 312
snps: rs12279899
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGQ2
geneSymbol: OR6Q1
reactome: R-HSA-381753;
name: Olfactory receptor 6Q1 (Olfactory receptor OR11-226)
length: 317
snps: rs1374570
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN1
geneSymbol: OR6T1
reactome: R-HSA-381753;
name: Olfactory receptor 6T1 (Olfactory receptor OR11-277)
length: 323
go: ENSG00000181499;
snps: rs6590022 rs6590021 rs7937317
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH21
geneSymbol: OR4F5
reactome: R-HSA-381753;
name: Olfactory receptor 4F5
length: 305
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGP4
geneSymbol: OR5M3
reactome: R-HSA-381753;
name: Olfactory receptor 5M3 (Olfactory receptor OR11-191)
length: 307
go: ENSG00000174937;
snps: rs605734 rs17150664
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGD4
geneSymbol: OR4K1
reactome: R-HSA-381753;
name: Olfactory receptor 4K1 (Olfactory receptor OR14-19)
length: 311
snps: rs12885778 rs3916626 rs2792146
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH42
geneSymbol: OR4K13
reactome: R-HSA-381753;
name: Olfactory receptor 4K13 (Olfactory receptor OR14-27)
length: 304
snps: rs17277025
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8WZ94
geneSymbol: OR5P3
reactome: R-HSA-381753;
name: Olfactory receptor 5P3 (Olfactory receptor OR11-94) (Olfactory receptor-like protein JCG1)
length: 311
go: ENSG00000182334;
snps: rs16932503 rs364427
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O76100
geneSymbol: OR7A10
reactome: R-HSA-381753;
name: Olfactory receptor 7A10 (OST027) (Olfactory receptor OR19-18)
length: 309
snps: rs12972670 rs9305052 rs11880955 rs10221530
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O14581
geneSymbol: OR7A17
reactome: R-HSA-381753;
name: Olfactory receptor 7A17
length: 309
go: ENSG00000185385;
snps: rs10405148 rs10405129 rs10404119 rs13345394
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG2
geneSymbol: OR5T2
reactome: R-HSA-381753;
name: Olfactory receptor 5T2 (Olfactory receptor OR11-177)
length: 359
go: ENSG00000181718;
snps: rs3919907 rs11227599 rs10791893 rs7122514 rs12221615 rs7121880
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGD0
geneSymbol: OR4M1
reactome: R-HSA-381753;
name: Olfactory receptor 4M1 (Olfactory receptor OR14-7)
length: 313
snps: rs2635535 rs2815960
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF9
geneSymbol: OR4X2
reactome: R-HSA-381753;
name: Olfactory receptor 4X2 (Olfactory receptor OR11-105)
length: 303
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGH3
geneSymbol: OR2D3
reactome: R-HSA-381753;
name: Olfactory receptor 2D3 (Olfactory receptor OR11-89)
length: 330
snps: rs10839658 rs12806437 rs10839659
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGQ6
geneSymbol: OR9I1
reactome: R-HSA-381753;
name: Olfactory receptor 9I1 (Olfactory receptor OR11-228)
length: 314
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGZ5
geneSymbol: OR2G2
reactome: R-HSA-381753;
name: Olfactory receptor 2G2 (Olfactory receptor OR1-32)
length: 317
go: ENSG00000177489;
snps: rs12737801 rs1151687 rs10925085 rs869111
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q5TZ20
geneSymbol: OR2G6
reactome: R-HSA-381753;
name: Olfactory receptor 2G6
length: 316
snps: rs58955396 rs9330305
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NL26
geneSymbol: OR5B21
reactome: R-HSA-381753;
name: Olfactory receptor 5B21
length: 309
go: ENSG00000198283;
snps: rs58454093
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96RD0
geneSymbol: OR8B2
reactome: R-HSA-381753;
name: Olfactory receptor 8B2 (Olfactory receptor OR11-309)
length: 313
snps: rs28373946 rs530740 rs886202 rs503220
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H209
geneSymbol: OR10A4
reactome: R-HSA-381753;
name: Olfactory receptor 10A4 (HP2) (Olfactory receptor-like protein JCG5)
length: 315
go: ENSG00000170782;
snps: rs2595453 rs7938371 rs16919049 rs10839635
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; axon guidance [GO:0007411]


uniprotID: Q6NXP6
geneSymbol: NOXRED1
length: 359
go: ENSG00000165555;
opentargets: oxidoreductase activity [GO:0016491]
name:
NADP-dependent oxidoreductase domain-containing protein 1 (EC 1.-.-.-) (Pyrroline-5-carboxylate reductase-like protein C14orf148)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NXP6-1; Sequence=Displayed; Name=2; IsoId=Q6NXP6-2; Sequence=VSP_038392; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8NH80
geneSymbol: OR10D3
reactome: R-HSA-381753;
name: Putative olfactory receptor 10D3 (HTPCRX09) (Olfactory receptor OR11-293)
length: 312
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8NGC3
geneSymbol: OR10G2
reactome: R-HSA-381753;
name: Olfactory receptor 10G2
length: 310
snps: rs10146821 rs41314525 rs35963889 rs12894405
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NND4
geneSymbol: OR2AT4
reactome: R-HSA-381753;
name: Olfactory receptor 2AT4 (Olfactory receptor OR11-265)
length: 320
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN4
geneSymbol: OR10G9
reactome: R-HSA-381753;
name: Olfactory receptor 10G9 (Olfactory receptor 10G10)
length: 311
snps: rs12366219 rs17128190 rs11219413 rs12221656
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS8
geneSymbol: OR13C5
reactome: R-HSA-381753;
name: Olfactory receptor 13C5 (Olfactory receptor OR9-11)
length: 318
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

snps:
rs1851722 rs6479260 rs7042502 rs4629933 rs2417534 rs4117966 rs6479259 rs1851724 rs1523678 rs1851725 


uniprotID: Q8NGA5
geneSymbol: OR10H4
reactome: R-HSA-381753;
name: Olfactory receptor 10H4 (Olfactory receptor OR19-28)
length: 316
go: ENSG00000176231;
snps: rs16980994 rs16980822 rs11880184
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NDL8
geneSymbol: OR6C68
reactome: R-HSA-381753;
name: Olfactory receptor 6C68
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NL08
geneSymbol: OR6C75
reactome: R-HSA-381753;
name: Olfactory receptor 6C75
length: 312
snps: rs7976023 rs7976416
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H2C8
geneSymbol: OR51V1
reactome: R-HSA-381753;
length: 321
go: ENSG00000176742;
snps: rs7933549
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 51V1 (Odorant receptor HOR3'beta1) (Olfactory receptor 51A12) (Olfactory receptor OR11-36)

sequence:


uniprotID: Q9UKL2
geneSymbol: OR52A1
reactome: R-HSA-381753;
name: Olfactory receptor 52A1 (HPFH1OR) (Odorant receptor HOR3'beta4) (Olfactory receptor OR11-319)
length: 312
go: ENSG00000182070;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; transmembrane signaling receptor activity [GO:0004888]; sensory perception of smell [GO:0007608]; signal transduction [GO:0007165]


uniprotID: A6NMZ5
geneSymbol: OR4C45
reactome: R-HSA-381753;
name: Olfactory receptor 4C45
length: 311
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96RD2
geneSymbol: OR52B2
reactome: R-HSA-381753;
name: Olfactory receptor 52B2 (Olfactory receptor OR11-70)
length: 323
snps: rs16909422
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9UGF5
geneSymbol: OR14J1
reactome: R-HSA-381753;
name: Olfactory receptor 14J1 (Hs6M1-28) (Olfactory receptor 5U1) (Olfactory receptor OR6-25)
length: 321
go: ENSG00000204695;
snps: rs9257694 rs17404424
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH60
geneSymbol: OR52J3
reactome: R-HSA-381753;
name: Olfactory receptor 52J3 (Olfactory receptor OR11-32)
length: 311
go: ENSG00000205495;
snps: rs2500016 rs2500017 rs2500018 rs17350764
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8WVF1
geneSymbol: OSCP1
length: 389
go: ENSG00000116885;
opentargets: basal plasma membrane [GO:0009925]
snps: rs11547025 rs34409118 rs2359016
location: SUBCELLULAR LOCATION: Basal cell membrane. Note=Syncytiotrophoblast in placenta.
name:
Protein OSCP1 (hOSCP1) (Organic solute transport protein 1) (Oxidored-nitro domain-containing protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WVF1-1; Sequence=Displayed; Name=2; IsoId=Q8WVF1-2; Sequence=VSP_020826; Note=No experimental confirmation available.; Name=3; IsoId=Q8WVF1-3; Sequence=VSP_039475; Name=4; IsoId=Q8WVF1-4; Sequence=VSP_039475, VSP_039476, VSP_039477; 


uniprotID: Q96FW1
geneSymbol: OTUB1
reactome: R-HSA-5689880;R-HSA-5689896;
pdb: 2ZFY;3VON;4DDG;4DDI;4DHZ;4I6L;4LDT;
length: 271
go: ENSG00000167770;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Ubiquitin thioesterase OTUB1 (EC 3.4.19.12) (Deubiquitinating enzyme OTUB1) (OTU domain-containing ubiquitin aldehyde-binding protein 1) (Otubain-1) (hOTU1) (Ubiquitin-specific-processing protease OTUB1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NEDD8-specific protease activity [GO:0019784]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; adaptive immune response [GO:0002250]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to interleukin-1 [GO:0071347]; DNA repair [GO:0006281]; negative regulation of double-strand break repair [GO:2000780]; negative regulation of histone H2A K63-linked ubiquitination [GO:1901315]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Otubain-1; IsoId=Q96FW1-1; Sequence=Displayed; Name=2; Synonyms=ARF-1; IsoId=Q96FW1-2; Sequence=VSP_009464; Note=Lacks the catalytic sites for protease activity.; 


uniprotID: P10451
geneSymbol: SPP1
reactome: R-HSA-1474228;R-HSA-186797;R-HSA-216083;R-HSA-381426;R-HSA-8949275;R-HSA-8957275;
pdb: 3CXD;3DSF;
length: 314
go: ENSG00000118785;
snps: rs7435825 rs4660
location: SUBCELLULAR LOCATION: Secreted.
name:
Osteopontin (Bone sialoprotein 1) (Nephropontin) (Secreted phosphoprotein 1) (SPP-1) (Urinary stone protein) (Uropontin)

sequence:

opentargets:
cell projection [GO:0042995]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; cytokine activity [GO:0005125]; extracellular matrix binding [GO:0050840]; androgen catabolic process [GO:0006710]; biomineral tissue development [GO:0031214]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; cellular response to testosterone stimulus [GO:0071394]; decidualization [GO:0046697]; embryo implantation [GO:0007566]; extracellular matrix organization [GO:0030198]; inflammatory response [GO:0006954]; negative regulation of collateral sprouting of intact axon in response to injury [GO:0048685]; osteoblast differentiation [GO:0001649]; positive regulation of bone resorption [GO:0045780]; positive regulation of estradiol secretion [GO:2000866]; positive regulation of transcription, DNA-templated [GO:0045893]; post-translational protein modification [GO:0043687]; response to steroid hormone [GO:0048545]; response to vitamin D [GO:0033280]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=A; Synonyms=OPN-a, OP1B; IsoId=P10451-1; Sequence=Displayed; Name=B; Synonyms=OPN-b, OP1A; IsoId=P10451-2; Sequence=VSP_003778; Name=C; Synonyms=OPN-c; IsoId=P10451-3; Sequence=VSP_003777; Name=D; IsoId=P10451-4; Sequence=VSP_011639; Name=5; IsoId=P10451-5; Sequence=VSP_043695; Note=No experimental confirmation available.; 


uniprotID: Q13438
geneSymbol: OS9
reactome: R-HSA-382556;R-HSA-5358346;R-HSA-5362768;R-HSA-5678895;R-HSA-901032;
pdb: 3AIH;
name: Protein OS-9 (Amplified in osteosarcoma 9)
length: 667
go: ENSG00000135506;
snps: rs141986192 rs1804598 rs34764811
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; Hrd1p ubiquitin ligase complex [GO:0000836]; carbohydrate binding [GO:0030246]; protease binding [GO:0002020]; endoplasmic reticulum mannose trimming [GO:1904380]; negative regulation of retrograde protein transport, ER to cytosol [GO:1904153]; protein retention in ER lumen [GO:0006621]; protein targeting [GO:0006605]; protein ubiquitination [GO:0016567]; response to endoplasmic reticulum stress [GO:0034976]; retrograde protein transport, ER to cytosol [GO:0030970]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=OS-9-1; IsoId=Q13438-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=OS-9-2; IsoId=Q13438-2; Sequence=VSP_004353; Note=Major isoform.; Name=3; Synonyms=OS-9-3; IsoId=Q13438-3; Sequence=VSP_004352, VSP_004353; Name=4; IsoId=Q13438-4; Sequence=VSP_004352; Note=No experimental confirmation available.; Name=5; IsoId=Q13438-5; Sequence=VSP_044701, VSP_044702, VSP_004353; Note=No experimental confirmation available.; Name=6; IsoId=Q13438-6; Sequence=VSP_046001, VSP_004353; Note=No experimental confirmation available.; Name=7; IsoId=Q13438-7; Sequence=VSP_044702, VSP_004353; Note=Gene prediction based on EST data.; Name=8; IsoId=Q13438-8; Sequence=VSP_046770, VSP_004352, VSP_004353; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:18264092, ECO:0000269|PubMed:18417469, ECO:0000269|PubMed:19084021}.


uniprotID: Q9BZF2
geneSymbol: OSBPL7
reactome: R-HSA-192105;
name: Oxysterol-binding protein-related protein 7 (ORP-7) (OSBP-related protein 7)
length: 842
go: ENSG00000006025;
snps: rs8076196 rs35437144 rs8071195
sequence:

opentargets:
autophagosome [GO:0005776]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; perinuclear endoplasmic reticulum [GO:0097038]; plasma membrane [GO:0005886]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; bile acid biosynthetic process [GO:0006699]; cellular response to cholesterol [GO:0071397]; positive regulation of proteasomal protein catabolic process [GO:1901800]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZF2-1; Sequence=Displayed; Name=2; IsoId=Q9BZF2-2; Sequence=VSP_057227, VSP_057228; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:14593528}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:14593528}. Cell membrane {ECO:0000269|PubMed:14593528}.


uniprotID: P02818
geneSymbol: BGLAP
reactome: R-HSA-159740;R-HSA-159763;R-HSA-159782;R-HSA-8940973;
name: Osteocalcin (Bone Gla protein) (BGP) (Gamma-carboxyglutamic acid-containing protein)
length: 100
go: ENSG00000242252;
drug: DB05260;DB03847;DB00170;DB01022;
snps: rs34702397
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRALTLLALLALAALCIAGQAGAKPSGAESSKGAAFVSKQEGSEVVKRPRRYLYQWLGAPVPYPDPLEPRREVCELNPDCDELADHIGFQEAYRRFYGPV

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; perikaryon [GO:0043204]; rough endoplasmic reticulum [GO:0005791]; vesicle [GO:0031982]; calcium ion binding [GO:0005509]; hydroxyapatite binding [GO:0046848]; structural constituent of bone [GO:0008147]; structural molecule activity [GO:0005198]; bone development [GO:0060348]; bone mineralization [GO:0030282]; cell adhesion [GO:0007155]; cell aging [GO:0007569]; cellular response to growth factor stimulus [GO:0071363]; cellular response to vitamin D [GO:0071305]; ER to Golgi vesicle-mediated transport [GO:0006888]; odontogenesis [GO:0042476]; ossification [GO:0001503]; osteoblast development [GO:0002076]; osteoblast differentiation [GO:0001649]; regulation of bone mineralization [GO:0030500]; regulation of bone resorption [GO:0045124]; regulation of cellular response to insulin stimulus [GO:1900076]; regulation of osteoclast differentiation [GO:0045670]; response to activity [GO:0014823]; response to estrogen [GO:0043627]; response to ethanol [GO:0045471]; response to glucocorticoid [GO:0051384]; response to gravity [GO:0009629]; response to hydroxyisoflavone [GO:0033594]; response to mechanical stimulus [GO:0009612]; response to testosterone [GO:0033574]; response to vitamin D [GO:0033280]; response to vitamin K [GO:0032571]; response to zinc ion [GO:0010043]; skeletal system development [GO:0001501]


uniprotID: A6NNC1
name: Putative POM121-like protein 1-like
length: 897
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q969R2
geneSymbol: OSBP2
length: 916
go: ENSG00000184792;
snps: rs34240867
location: SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
name:
Oxysterol-binding protein 2 (Oxysterol-binding protein-related protein 4) (ORP-4) (OSBP-related protein 4)

sequence:

opentargets:
apical dendrite [GO:0097440]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; perinuclear endoplasmic reticulum [GO:0097038]; plasma membrane [GO:0005886]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q969R2-1; Sequence=Displayed; Name=2; IsoId=Q969R2-2; Sequence=VSP_054520; Note=No experimental confirmation available.; Name=3; IsoId=Q969R2-3; Sequence=VSP_054886, VSP_054887, VSP_054520; Note=No experimental confirmation available.; Name=4; IsoId=Q969R2-4; Sequence=VSP_055263, VSP_054520; Note=No experimental confirmation available.; Name=5; IsoId=Q969R2-5; Sequence=VSP_055262, VSP_054520; Note=No experimental confirmation available.; Name=6; IsoId=Q969R2-6; Sequence=VSP_055751, VSP_055752; 


uniprotID: P32243
geneSymbol: OTX2
name: Homeobox protein OTX2 (Orthodenticle homolog 2)
length: 289
go: ENSG00000165588;
snps: rs786205224 rs104894464 rs376333965 rs753783256 rs199761861 rs370761964
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19414065}.
sequence:

opentargets:
growth cone [GO:0030426]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; eukaryotic initiation factor 4E binding [GO:0008190]; 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 guidance [GO:0007411]; dopaminergic neuron differentiation [GO:0071542]; forebrain development [GO:0030900]; midbrain development [GO:0030901]; positive regulation of embryonic development [GO:0040019]; positive regulation of gastrulation [GO:2000543]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; primitive streak formation [GO:0090009]; protein-containing complex assembly [GO:0065003]; regulation of fibroblast growth factor receptor signaling pathway [GO:0040036]; regulation of smoothened signaling pathway [GO:0008589]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32243-1; Sequence=Displayed; Name=2; IsoId=P32243-2; Sequence=VSP_021006; 


uniprotID: Q8IYS1
geneSymbol: PM20D2
name: Peptidase M20 domain-containing protein 2 (Aminoacylase-1-like protein 2)
length: 436
go: ENSG00000146281;
snps: rs10944433
sequence:

opentargets:
nucleoplasm [GO:0005654]; dipeptidase activity [GO:0016805]; proteolysis [GO:0006508]; regulation of cellular protein metabolic process [GO:0032268]


uniprotID: O00398
geneSymbol: P2RY10
reactome: R-HSA-416476;R-HSA-417957;
name: Putative P2Y purinoceptor 10 (P2Y10) (P2Y-like receptor)
length: 339
go: ENSG00000078589;
snps: rs6618868
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]


uniprotID: Q9H244
geneSymbol: P2RY12
reactome: R-HSA-392170;R-HSA-417957;R-HSA-418594;
pdb: 1T78;1VZ1;1Y9C;4NTJ;4PXZ;4PY0;
length: 342
go: ENSG00000169313;
drug: DB04902;DB06441;DB00758;DB01240;DB06209;DB08816;DB00208;DB00374;
snps: rs121917885 rs121917886 rs16846673
name:
P2Y purinoceptor 12 (P2Y12) (ADP-glucose receptor) (ADPG-R) (P2T(AC)) (P2Y(AC)) (P2Y(cyc)) (P2Y12 platelet ADP receptor) (P2Y(ADP)) (SP1999)

sequence:

opentargets:
basal plasma membrane [GO:0009925]; caveola [GO:0005901]; cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intrinsic component of membrane [GO:0031224]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; ADP receptor activity [GO:0001621]; G protein-coupled adenosine receptor activity [GO:0001609]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; guanyl-nucleotide exchange factor activity [GO:0005085]; activation of phospholipase C activity [GO:0007202]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; calcium ion transmembrane transport [GO:0070588]; calcium-mediated signaling [GO:0019722]; calcium-mediated signaling using extracellular calcium source [GO:0035585]; cell projection organization [GO:0030030]; cellular response to ATP [GO:0071318]; cytosolic calcium signaling involved in initiation of cell movement in glial-mediated radial cell migration [GO:0021808]; G protein-coupled receptor signaling pathway [GO:0007186]; hemostasis [GO:0007599]; lamellipodium assembly [GO:0030032]; negative regulation of cell differentiation [GO:0045596]; negative regulation of norepinephrine secretion [GO:0010700]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; platelet aggregation [GO:0070527]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of chemotaxis [GO:0050921]; positive regulation of integrin activation by cell surface receptor linked signal transduction [GO:0033626]; positive regulation of ion transport [GO:0043270]; positive regulation of microglial cell migration [GO:1904141]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of ruffle assembly [GO:1900029]; potassium ion transmembrane transport [GO:0071805]; protein kinase B signaling [GO:0043491]; regulation of calcium ion transport [GO:0051924]; regulation of chemotaxis [GO:0050920]; regulation of microglial cell migration [GO:1904139]; response to axon injury [GO:0048678]; substrate-dependent cell migration, cell extension [GO:0006930]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:24670650, ECO:0000269|PubMed:24784220}; Multi-pass membrane protein {ECO:0000269|PubMed:11196645, ECO:0000269|PubMed:12578987, ECO:0000269|PubMed:24670650, ECO:0000269|PubMed:24784220}.


uniprotID: Q9UNF0
geneSymbol: PACSIN2
reactome: R-HSA-8856828;
pdb: 3ABH;3ACO;3HAJ;3Q0K;
name: Protein kinase C and casein kinase substrate in neurons protein 2 (Syndapin-2) (Syndapin-II)
length: 486
go: ENSG00000100266;
snps: rs35383004 rs2746984 rs1062913
sequence:

opentargets:
caveola [GO:0005901]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; ruffle membrane [GO:0032587]; cadherin binding [GO:0045296]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; phosphatidic acid binding [GO:0070300]; phospholipid binding [GO:0005543]; transporter activity [GO:0005215]; actin cytoskeleton organization [GO:0030036]; caveola assembly [GO:0070836]; caveolin-mediated endocytosis [GO:0072584]; cell projection morphogenesis [GO:0048858]; cytoskeleton organization [GO:0007010]; membrane organization [GO:0061024]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of endocytosis [GO:0045806]; plasma membrane tubulation [GO:0097320]; protein localization to endosome [GO:0036010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNF0-1; Sequence=Displayed; Name=2; IsoId=Q9UNF0-2; Sequence=VSP_004517; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome. Recycling endosome membrane. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection {ECO:0000250}. Membrane, caveola. Note=Detected at the neck of flask-shaped caveolae. Localization to tubular recycling endosomes probably requires interaction with MICALL1 and EHD1.


uniprotID: Q8WV74
geneSymbol: NUDT8
name: Nucleoside diphosphate-linked moiety X motif 8 (Nudix motif 8) (EC 3.6.1.-)
length: 236
go: ENSG00000167799;
opentargets: hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WV74-1; Sequence=Displayed; Name=2; IsoId=Q8WV74-2; Sequence=VSP_014282, VSP_014283; Note=No experimental confirmation available.; 


uniprotID: Q53FV1
geneSymbol: ORMDL2
reactome: R-HSA-1660661;
name: ORM1-like protein 2 (Adoplin-2)
length: 153
go: ENSG00000123353;
sequence:
MNVGVAHSEVNPNTRVMNSRGIWLAYIILVGLLHMVLLSIPFFSIPVVWTLTNVIHNLATYVFLHTVKGTPFETPDQGKARLLTHWEQMDYGLQFTSSRKFLSISPIVLYLLASFYTKYDAAHFLINTASLLSVLLPKLPQFHGVRVFGINKY

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; SPOTS complex [GO:0035339]; cellular sphingolipid homeostasis [GO:0090156]; ceramide metabolic process [GO:0006672]; negative regulation of ceramide biosynthetic process [GO:1900060]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12093374}; Multi-pass membrane protein {ECO:0000269|PubMed:12093374}.


uniprotID: Q8N138
geneSymbol: ORMDL3
reactome: R-HSA-1660661;R-HSA-6798695;
name: ORM1-like protein 3
length: 153
go: ENSG00000172057;
sequence:
MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVSVPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFLTITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; SPOTS complex [GO:0035339]; cellular sphingolipid homeostasis [GO:0090156]; ceramide metabolic process [GO:0006672]; negative regulation of ceramide biosynthetic process [GO:1900060]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N138-1; Sequence=Displayed; Name=2; IsoId=Q8N138-4; Sequence=VSP_016052; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12093374, ECO:0000269|PubMed:19819884}; Multi-pass membrane protein {ECO:0000269|PubMed:12093374, ECO:0000269|PubMed:19819884}.


uniprotID: Q9BXI2
geneSymbol: SLC25A2
reactome: R-HSA-70635;
name: Mitochondrial ornithine transporter 2 (Solute carrier family 25 member 2)
length: 301
go: ENSG00000120329;
drug: DB00129;
snps: rs10075302 rs3749779 rs3749780
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; L-ornithine transmembrane transporter activity [GO:0000064]; mitochondrial L-ornithine transmembrane transport [GO:1990575]; urea cycle [GO:0000050]


uniprotID: P78527
geneSymbol: PRKDC
reactome: R-HSA-1834949;R-HSA-3270619;R-HSA-5693571;R-HSA-8866654;
pdb: 5LUQ;5W1R;5Y3R;
length: 4128
go: ENSG00000253729;
drug: DB00201;DB05210;
name:
DNA-dependent protein kinase catalytic subunit (DNA-PK catalytic subunit) (DNA-PKcs) (EC 2.7.11.1) (DNPK1) (p460)

sequence:

opentargets:
cytosol [GO:0005829]; DNA-dependent protein kinase-DNA ligase 4 complex [GO:0005958]; membrane [GO:0016020]; nonhomologous end joining complex [GO:0070419]; nuclear chromosome, telomeric region [GO:0000784]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; ATP binding [GO:0005524]; DNA-dependent protein kinase activity [GO:0004677]; double-stranded DNA binding [GO:0003690]; enzyme binding [GO:0019899]; protein domain specific binding [GO:0019904]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; activation of innate immune response [GO:0002218]; B cell lineage commitment [GO:0002326]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cellular protein modification process [GO:0006464]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to insulin stimulus [GO:0032869]; double-strand break repair [GO:0006302]; double-strand break repair via alternative nonhomologous end joining [GO:0097681]; double-strand break repair via nonhomologous end joining [GO:0006303]; ectopic germ cell programmed cell death [GO:0035234]; heart development [GO:0007507]; immunoglobulin V(D)J recombination [GO:0033152]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cellular senescence [GO:2000773]; negative regulation of immunoglobulin production [GO:0002638]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of response to gamma radiation [GO:2001229]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of apoptotic process [GO:0043065]; positive regulation of developmental growth [GO:0048639]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]; pro-B cell differentiation [GO:0002328]; protein destabilization [GO:0031648]; protein phosphorylation [GO:0006468]; protein ubiquitination [GO:0016567]; regulation of circadian rhythm [GO:0042752]; regulation of smooth muscle cell proliferation [GO:0048660]; response to activity [GO:0014823]; response to gamma radiation [GO:0010332]; rhythmic process [GO:0048511]; signal transduction involved in mitotic G1 DNA damage checkpoint [GO:0072431]; somitogenesis [GO:0001756]; spleen development [GO:0048536]; T cell differentiation in thymus [GO:0033077]; T cell lineage commitment [GO:0002360]; T cell receptor V(D)J recombination [GO:0033153]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; thymus development [GO:0048538]

snps:
rs8177999 rs758032015 rs8178017 rs55925466 rs8178033 rs55811715 rs8178040 rs8178046 rs8178070 rs781401034 rs34598508 rs191531119 rs8178090 rs8178104 rs8178106 rs56182356 rs55735910 rs56042895 rs8178147 rs55923149 rs8178178 rs4278157 rs587777685 rs56135402 rs8178208 rs55793951 rs8178216 rs8178225 rs7830743 rs8178228 rs8178232 rs587777686 rs55866966 rs8178236 rs56216442 rs8178245 rs8178248 rs55670423 rs56090750 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78527-1; Sequence=Displayed; Name=2; IsoId=P78527-2; Sequence=VSP_004708; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12231622, ECO:0000269|PubMed:14734805, ECO:0000269|PubMed:22002106}. Nucleus, nucleolus {ECO:0000269|PubMed:22002106}.


uniprotID: O60260
geneSymbol: PRKN
reactome: R-HSA-5205685;R-HSA-5689877;R-HSA-977225;R-HSA-983168;
pdb: 1IYF;2JMO;4BM9;4I1F;4I1H;5C1Z;5C23;5C9V;5N2W;5N38;5TR5;6GLC;
length: 465
go: ENSG00000185345;
name:
E3 ubiquitin-protein ligase parkin (Parkin) (EC 2.3.2.31) (Parkin RBR E3 ubiquitin-protein ligase) (Parkinson juvenile disease protein 2) (Parkinson disease protein 2)

sequence:

opentargets:
aggresome [GO:0016235]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; Lewy body [GO:0097413]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; Parkin-FBXW7-Cul1 ubiquitin ligase complex [GO:1990452]; perinuclear region of cytoplasm [GO:0048471]; presynapse [GO:0098793]; ubiquitin ligase complex [GO:0000151]; actin binding [GO:0003779]; beta-catenin binding [GO:0008013]; chaperone binding [GO:0051087]; cullin family protein binding [GO:0097602]; DNA-binding transcription factor activity [GO:0003700]; enzyme binding [GO:0019899]; F-box domain binding [GO:1990444]; G protein-coupled receptor binding [GO:0001664]; heat shock protein binding [GO:0031072]; histone deacetylase binding [GO:0042826]; Hsp70 protein binding [GO:0030544]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; PDZ domain binding [GO:0030165]; phospholipase binding [GO:0043274]; protein kinase binding [GO:0019901]; SH3 domain binding [GO:0017124]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; tubulin binding [GO:0015631]; ubiquitin binding [GO:0043130]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; ubiquitin-specific protease binding [GO:1990381]; zinc ion binding [GO:0008270]; adult locomotory behavior [GO:0008344]; aggresome assembly [GO:0070842]; autophagy of mitochondrion [GO:0000422]; cellular protein catabolic process [GO:0044257]; cellular protein metabolic process [GO:0044267]; cellular response to dopamine [GO:1903351]; cellular response to manganese ion [GO:0071287]; cellular response to toxic substance [GO:0097237]; cellular response to unfolded protein [GO:0034620]; central nervous system development [GO:0007417]; dopamine metabolic process [GO:0042417]; dopamine uptake involved in synaptic transmission [GO:0051583]; ERAD pathway [GO:0036503]; free ubiquitin chain polymerization [GO:0010994]; learning [GO:0007612]; macroautophagy [GO:0016236]; mitochondrial fission [GO:0000266]; mitochondrion organization [GO:0007005]; mitochondrion to lysosome transport [GO:0099074]; mitophagy [GO:0000423]; negative regulation by host of viral genome replication [GO:0044828]; negative regulation of actin filament bundle assembly [GO:0032232]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell death [GO:0060548]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903382]; negative regulation of exosomal secretion [GO:1903542]; negative regulation of gene expression [GO:0010629]; negative regulation of glucokinase activity [GO:0033132]; negative regulation of insulin secretion [GO:0046676]; negative regulation of intralumenal vesicle formation [GO:1905366]; negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator [GO:1902254]; negative regulation of JNK cascade [GO:0046329]; negative regulation of mitochondrial fusion [GO:0010637]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron death [GO:1901215]; negative regulation of oxidative stress-induced cell death [GO:1903202]; negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903377]; negative regulation of primary amine oxidase activity [GO:1902283]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of spontaneous neurotransmitter secretion [GO:1904049]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron cellular homeostasis [GO:0070050]; norepinephrine metabolic process [GO:0042415]; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization [GO:0061734]; positive regulation of autophagy of mitochondrion [GO:1903599]; positive regulation of dendrite extension [GO:1903861]; positive regulation of DNA binding [GO:0043388]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of mitochondrial fusion [GO:0010636]; positive regulation of mitophagy in response to mitochondrial depolarization [GO:0098779]; positive regulation of neurotransmitter uptake [GO:0051582]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein binding [GO:0032092]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein linear polyubiquitination [GO:1902530]; positive regulation of protein localization to membrane [GO:1905477]; positive regulation of retrograde transport, endosome to Golgi [GO:1905281]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; proteasomal protein catabolic process [GO:0010498]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein destabilization [GO:0031648]; protein deubiquitination [GO:0016579]; protein K11-linked ubiquitination [GO:0070979]; protein K27-linked ubiquitination [GO:0044314]; protein K29-linked ubiquitination [GO:0035519]; protein K48-linked ubiquitination [GO:0070936]; protein K6-linked ubiquitination [GO:0085020]; protein K63-linked ubiquitination [GO:0070534]; protein localization to mitochondrion [GO:0070585]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]; regulation of autophagy [GO:0010506]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of cellular response to oxidative stress [GO:1900407]; regulation of dopamine metabolic process [GO:0042053]; regulation of dopamine secretion [GO:0014059]; regulation of glucose metabolic process [GO:0010906]; regulation of lipid transport [GO:0032368]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of mitochondrion organization [GO:0010821]; regulation of protein stability [GO:0031647]; regulation of protein targeting to mitochondrion [GO:1903214]; regulation of protein ubiquitination [GO:0031396]; regulation of reactive oxygen species metabolic process [GO:2000377]; regulation of synaptic vesicle transport [GO:1902803]; response to endoplasmic reticulum stress [GO:0034976]; response to oxidative stress [GO:0006979]; startle response [GO:0001964]; synaptic transmission, glutamatergic [GO:0035249]; ubiquitin-dependent protein catabolic process [GO:0006511]; zinc ion homeostasis [GO:0055069]

snps:
rs532703934 rs147757966 rs148990138 rs368134308 rs137853059 rs55774500 rs566229879 rs1256316516 rs137853057 rs1801474 rs9456735 rs9456735 rs137853060 rs137853058 rs137853054 rs137853054 rs747427602 rs150562946 rs34424986 rs72480422 rs751037529 rs55961220 rs199657839 rs56092260 rs1801582 rs1801334 rs55830907 rs778125254 rs191486604 rs397514694 rs149953814 rs778305273 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=O60260-1; Sequence=Displayed; Name=2; Synonyms=SV5DEL; IsoId=O60260-2; Sequence=VSP_011707; Name=3; IsoId=O60260-3; Sequence=VSP_011706, VSP_011709, VSP_011710; Name=4; IsoId=O60260-4; Sequence=VSP_011705; Name=5; IsoId=O60260-5; Sequence=VSP_011708, VSP_011711, VSP_011712; Name=6; IsoId=O60260-6; Sequence=VSP_041563; Name=7; Synonyms=SV5,9DEL; IsoId=O60260-7; Sequence=VSP_011707, VSP_053651; Name=8; Synonyms=SV9DEL; IsoId=O60260-8; Sequence=VSP_053651; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19229105}. Nucleus. Endoplasmic reticulum. Mitochondrion {ECO:0000269|PubMed:19229105}. Note=Mainly localizes in the cytosol. Co-localizes with SYT11 in neutrites. Co-localizes with SNCAIP in brainstem Lewy bodies. Mitochondrial localization gradually increases with cellular growth. Also relocates to dysfunctional mitochondria that have lost the mitochondrial membrane potential; recruitment to mitochondria is PINK1-dependent.


uniprotID: O75569
geneSymbol: PRKRA
reactome: R-HSA-203927;R-HSA-426486;
pdb: 2DIX;
length: 313
go: ENSG00000180228;
snps: rs121434410
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasm.
name:
Interferon-inducible double-stranded RNA-dependent protein kinase activator A (PKR-associated protein X) (PKR-associating protein X) (Protein activator of the interferon-induced protein kinase) (Protein kinase, interferon-inducible double-stranded RNA-dependent activator)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; RISC-loading complex [GO:0070578]; double-stranded RNA binding [GO:0003725]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; pre-miRNA binding [GO:0070883]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; cellular response to oxidative stress [GO:0034599]; immune response [GO:0006955]; middle ear morphogenesis [GO:0042474]; miRNA metabolic process [GO:0010586]; negative regulation of cell proliferation [GO:0008285]; outer ear morphogenesis [GO:0042473]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; pre-miRNA processing [GO:0031054]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; production of siRNA involved in RNA interference [GO:0030422]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; response to virus [GO:0009615]; skeletal system morphogenesis [GO:0048705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75569-1; Sequence=Displayed; Name=2; IsoId=O75569-2; Sequence=VSP_017283; Note=No experimental confirmation available.; Name=3; IsoId=O75569-3; Sequence=VSP_017282; Note=No experimental confirmation available.; 


uniprotID: P51817
geneSymbol: PRKX
length: 358
go: ENSG00000183943;
snps: rs3752362
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=cAMP induces nuclear translocation.
name:
cAMP-dependent protein kinase catalytic subunit PRKX (PrKX) (Protein kinase X) (Protein kinase X-linked) (Serine/threonine-protein kinase PRKX) (EC 2.7.11.1) (Protein kinase PKX1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cAMP-dependent protein kinase activity [GO:0004691]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; cell-substrate adhesion [GO:0031589]; endothelial cell migration [GO:0043542]; endothelial cell proliferation [GO:0001935]; epithelial tube morphogenesis [GO:0060562]; kidney morphogenesis [GO:0060993]; myeloid cell differentiation [GO:0030099]; peptidyl-serine phosphorylation [GO:0018105]; protein autophosphorylation [GO:0046777]; regulation of cell adhesion [GO:0030155]; regulation of cell migration [GO:0030334]; regulation of epithelial cell differentiation involved in kidney development [GO:2000696]


uniprotID: O43930
geneSymbol: PRKY
name: Putative serine/threonine-protein kinase PRKY (EC 2.7.11.1)
length: 277
sequence:

opentargets:
ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; protein phosphorylation [GO:0006468]


uniprotID: Q7L8S5
geneSymbol: OTUD6A
name: OTU domain-containing protein 6A (EC 3.4.19.12) (DUBA-2)
length: 288
go: ENSG00000189401;
sequence:

opentargets:
thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein K11-linked deubiquitination [GO:0035871]; protein K27-linked deubiquitination [GO:1990167]; protein K29-linked deubiquitination [GO:0035523]; protein K33-linked deubiquitination [GO:1990168]


uniprotID: Q7RTS5
geneSymbol: OTOP3
name: Proton channel OTOP3 (Otopetrin-3)
length: 596
go: ENSG00000182938;
snps: rs7210616 rs9890664 rs1542752 rs35131040
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; nucleic acid binding [GO:0003676]; proton channel activity [GO:0015252]; proton transmembrane transport [GO:1902600]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80VM9}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8WZ82
geneSymbol: OVCA2
name: Esterase OVCA2 (EC 3.1.2.-) (Ovarian cancer-associated gene 2 protein)
length: 227
go: ENSG00000262664;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; hydrolase activity [GO:0016787]; response to retinoic acid [GO:0032526]


uniprotID: Q9H1P3
geneSymbol: OSBPL2
reactome: R-HSA-192105;
name: Oxysterol-binding protein-related protein 2 (ORP-2) (OSBP-related protein 2)
length: 480
go: ENSG00000130703;
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; bile acid biosynthetic process [GO:0006699]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H1P3-1; Sequence=Displayed; Name=2; IsoId=Q9H1P3-2; Sequence=VSP_003781; 


uniprotID: Q7RTW8
geneSymbol: OTOA
reactome: R-HSA-163125;
name: Otoancorin
length: 1153
go: ENSG00000155719;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell-matrix adhesion [GO:0007160]; sensory perception of sound [GO:0007605]; transmission of nerve impulse [GO:0019226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7RTW8-1; Sequence=Displayed; Name=2; IsoId=Q7RTW8-2; Sequence=VSP_012212, VSP_012213; Name=3; IsoId=Q7RTW8-3; Sequence=VSP_012211, VSP_012214; Name=4; IsoId=Q7RTW8-4; Sequence=VSP_043345, VSP_043346, VSP_043347; Note=No experimental confirmation available.; Name=5; IsoId=Q7RTW8-5; Sequence=VSP_043347; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}; Extracellular side {ECO:0000305}. Secreted, extracellular space, extracellular matrix {ECO:0000305}. Note=At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes. {ECO:0000250}.


uniprotID: Q8N2R0
geneSymbol: OSR2
name: Protein odd-skipped-related 2
length: 312
go: ENSG00000164920;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; bone morphogenesis [GO:0060349]; cell differentiation [GO:0030154]; chondrocyte differentiation [GO:0002062]; embryo development ending in birth or egg hatching [GO:0009792]; embryonic digit morphogenesis [GO:0042733]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic skeletal joint development [GO:0072498]; embryonic skeletal joint morphogenesis [GO:0060272]; embryonic skeletal limb joint morphogenesis [GO:0036023]; embryonic skeletal system morphogenesis [GO:0048704]; eyelid development in camera-type eye [GO:0061029]; head development [GO:0060322]; mesonephros development [GO:0001823]; metanephros development [GO:0001656]; middle ear morphogenesis [GO:0042474]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis [GO:0042476]; osteoblast proliferation [GO:0033687]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; roof of mouth development [GO:0060021]; urogenital system development [GO:0001655]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=OSR2A; IsoId=Q8N2R0-1; Sequence=Displayed; Name=2; Synonyms=OSR2B; IsoId=Q8N2R0-2; Sequence=VSP_017121; Name=3; IsoId=Q8N2R0-3; Sequence=VSP_054849; 


uniprotID: A8MW92
geneSymbol: PHF20L1
pdb: 2EQM;2EQU;2JTF;
name: PHD finger protein 20-like protein 1
length: 1017
go: ENSG00000129292;
sequence:

opentargets:
nucleus [GO:0005634]; metal ion binding [GO:0046872]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A8MW92-1; Sequence=Displayed; Name=2; IsoId=A8MW92-2; Sequence=VSP_033781, VSP_033782, VSP_033783; Name=4; IsoId=A8MW92-4; Sequence=VSP_040407, VSP_040408; 


uniprotID: Q8TDS5
geneSymbol: OXER1
reactome: R-HSA-391903;R-HSA-418594;
length: 423
go: ENSG00000162881;
snps: rs17029947 rs2278586
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Oxoeicosanoid receptor 1 (5-oxo-ETE G-protein coupled receptor) (G-protein coupled receptor 170) (G-protein coupled receptor R527) (G-protein coupled receptor TG1019)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding [GO:0050648]; 5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding [GO:0050647]; 5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding [GO:0050646]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P32242
geneSymbol: OTX1
name: Homeobox protein OTX1 (Orthodenticle homolog 1)
length: 354
go: ENSG00000115507;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anterior/posterior pattern specification [GO:0009952]; diencephalon morphogenesis [GO:0048852]; inner ear morphogenesis [GO:0042472]; metencephalon development [GO:0022037]; midbrain development [GO:0030901]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: O75747
geneSymbol: PIK3C2G
reactome: R-HSA-1660499;R-HSA-1660514;
pdb: 2WWE;
length: 1445
go: ENSG00000139144;
snps: rs11044004 rs7133666 rs12312266 rs12099555 rs12816860
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
name:
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma (PI3K-C2-gamma) (PtdIns-3-kinase C2 subunit gamma) (EC 2.7.1.154) (Phosphoinositide 3-kinase-C2-gamma)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-4-phosphate 3-kinase activity [GO:0035005]; ATP binding [GO:0005524]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol phosphate kinase activity [GO:0016307]; cell migration [GO:0016477]; chemotaxis [GO:0006935]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-3-phosphate biosynthetic process [GO:0036092]; phosphatidylinositol-mediated signaling [GO:0048015]; viral RNA genome replication [GO:0039694]


uniprotID: O14683
geneSymbol: TP53I11
name: Tumor protein p53-inducible protein 11 (p53-induced gene 11 protein)
length: 189
go: ENSG00000175274;
opentargets: integral component of membrane [GO:0016021]; negative regulation of cell proliferation [GO:0008285]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MAAKQPPPLMKKHSQTDLVSRLKTRKILGVGGEDDDGEVHRSKISQVLGNEIKFTIREPLGLRVWQFVSAVLFSGIAIMALAFPDQLYDAVFDGAQVTSKTPIRLYGGALLSISLIMWNALYTAEKVIIRWTLLTEACYFGVQFLVVTATLAETGLMSLGILLLLVSRLLFVVISIYYYYQVGRRPKKA


uniprotID: Q99571
geneSymbol: P2RX4
reactome: R-HSA-139853;R-HSA-418346;
name: P2X purinoceptor 4 (P2X4) (ATP receptor) (Purinergic receptor)
length: 388
go: ENSG00000135124;
drug: DB09119;
snps: rs200492184 rs1044249 rs765866317 rs25644 rs28360472
sequence:

opentargets:
cell body [GO:0044297]; cell junction [GO:0030054]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; terminal bouton [GO:0043195]; ATP binding [GO:0005524]; ATP-gated ion channel activity [GO:0035381]; cadherin binding [GO:0045296]; copper ion binding [GO:0005507]; extracellularly ATP-gated cation channel activity [GO:0004931]; ligand-gated calcium channel activity [GO:0099604]; protein homodimerization activity [GO:0042803]; purinergic nucleotide receptor activity [GO:0001614]; signaling receptor binding [GO:0005102]; zinc ion binding [GO:0008270]; apoptotic signaling pathway [GO:0097190]; behavioral response to pain [GO:0048266]; blood coagulation [GO:0007596]; calcium ion transmembrane transport [GO:0070588]; calcium-mediated signaling [GO:0019722]; cation transport [GO:0006812]; cellular response to ATP [GO:0071318]; cellular response to zinc ion [GO:0071294]; endothelial cell activation [GO:0042118]; ion transmembrane transport [GO:0034220]; membrane depolarization [GO:0051899]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; neuronal action potential [GO:0019228]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of microglial cell migration [GO:1904141]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of prostaglandin secretion [GO:0032308]; positive regulation of protein kinase B signaling [GO:0051897]; protein homooligomerization [GO:0051260]; purinergic nucleotide receptor signaling pathway [GO:0035590]; regulation of blood pressure [GO:0008217]; regulation of cardiac muscle contraction [GO:0055117]; regulation of chemotaxis [GO:0050920]; regulation of sodium ion transport [GO:0002028]; relaxation of cardiac muscle [GO:0055119]; response to ATP [GO:0033198]; response to axon injury [GO:0048678]; response to fluid shear stress [GO:0034405]; response to ischemia [GO:0002931]; sensory perception of pain [GO:0019233]; sensory perception of touch [GO:0050975]; signal transduction [GO:0007165]; tissue homeostasis [GO:0001894]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99571-1; Sequence=Displayed; Name=2; IsoId=Q99571-2; Sequence=VSP_053812; Note=No experimental confirmation available.; Name=3; IsoId=Q99571-3; Sequence=VSP_053813; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10515189, ECO:0000269|PubMed:23303206, ECO:0000269|PubMed:28326637}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9BZF3
geneSymbol: OSBPL6
reactome: R-HSA-192105;
name: Oxysterol-binding protein-related protein 6 (ORP-6) (OSBP-related protein 6)
length: 934
go: ENSG00000079156;
snps: rs35032920 rs34874235
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; perinuclear endoplasmic reticulum [GO:0097038]; plasma membrane [GO:0005886]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; bile acid biosynthetic process [GO:0006699]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BZF3-1; Sequence=Displayed; Name=2; IsoId=Q9BZF3-2; Sequence=VSP_010013; Name=3; IsoId=Q9BZF3-3; Sequence=VSP_036559, VSP_036561; Name=4; IsoId=Q9BZF3-4; Sequence=VSP_036560; Name=5; IsoId=Q9BZF3-5; Sequence=VSP_036561; Name=6; IsoId=Q9BZF3-6; Sequence=VSP_036560, VSP_010013, VSP_054430, VSP_054431; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:14593528}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:14593528}; Peripheral membrane protein {ECO:0000305}. Nucleus envelope {ECO:0000269|PubMed:14593528}. Cell membrane {ECO:0000269|PubMed:14593528}; Peripheral membrane protein {ECO:0000305}.


uniprotID: Q96SU4
geneSymbol: OSBPL9
reactome: R-HSA-192105;
name: Oxysterol-binding protein-related protein 9 (ORP-9) (OSBP-related protein 9)
length: 736
go: ENSG00000117859;
snps: rs140080386
sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; lipid binding [GO:0008289]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; bile acid biosynthetic process [GO:0006699]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q96SU4-1; Sequence=Displayed; Name=2; IsoId=Q96SU4-2; Sequence=VSP_003782; Note=No experimental confirmation available.; Name=3; IsoId=Q96SU4-3; Sequence=VSP_036780, VSP_036781, VSP_003782; Name=4; IsoId=Q96SU4-4; Sequence=VSP_036779; Name=5; IsoId=Q96SU4-5; Sequence=VSP_036779, VSP_003782; Name=6; IsoId=Q96SU4-6; Sequence=VSP_043631, VSP_003782; Note=No experimental confirmation available.; Name=7; IsoId=Q96SU4-7; Sequence=VSP_043630; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:20599956}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:20599956}. Note=Localizes at the Golgi-late endosome interface.


uniprotID: Q8N573
geneSymbol: OXR1
name: Oxidation resistance protein 1
length: 874
go: ENSG00000164830;
snps: rs28921397 rs28921419 rs28921420
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15060142}.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; oxidoreductase activity [GO:0016491]; adult walking behavior [GO:0007628]; cellular response to hydroperoxide [GO:0071447]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; negative regulation of peptidyl-cysteine S-nitrosylation [GO:1902083]; neuron apoptotic process [GO:0051402]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q8N573-1; Sequence=Displayed; Name=2; IsoId=Q8N573-2; Sequence=VSP_039006, VSP_039013; Note=No experimental confirmation available.; Name=3; IsoId=Q8N573-3; Sequence=VSP_039007, VSP_039009, VSP_039010, VSP_039011; Name=4; IsoId=Q8N573-4; Sequence=VSP_039004, VSP_039012; Note=No experimental confirmation available.; Name=5; IsoId=Q8N573-5; Sequence=VSP_039008, VSP_039013; Note=No experimental confirmation available.; Name=6; IsoId=Q8N573-6; Sequence=VSP_039005, VSP_039014; Note=No experimental confirmation available.; Name=7; IsoId=Q8N573-7; Sequence=VSP_043632, VSP_043633; Name=8; IsoId=Q8N573-8; Sequence=VSP_039008; 


uniprotID: Q6GTS8
geneSymbol: PM20D1
length: 502
go: ENSG00000162877;
snps: rs11540014 rs1891460 rs1104899 rs7518979 rs11581214 rs11240573 rs1361754
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8C165}.
name:
N-fatty-acyl-amino acid synthase/hydrolase PM20D1 (EC 3.5.1.-) (EC 4.3.-.-) (Peptidase M20 domain-containing protein 1)

sequence:

opentargets:
extracellular exosome [GO:0070062]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides [GO:0016811]; lyase activity [GO:0016829]; metal ion binding [GO:0046872]; peptidase activity [GO:0008233]; adaptive thermogenesis [GO:1990845]; amide biosynthetic process [GO:0043604]; cellular amide catabolic process [GO:0043605]; cellular amino acid metabolic process [GO:0006520]; cellular lipid metabolic process [GO:0044255]; energy homeostasis [GO:0097009]; negative regulation of neuron death [GO:1901215]; regulation of oxidative phosphorylation uncoupler activity [GO:2000275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6GTS8-1; Sequence=Displayed; Name=2; IsoId=Q6GTS8-2; Sequence=VSP_031826, VSP_031827; Note=No experimental confirmation available.; 


uniprotID: Q06190
geneSymbol: PPP2R3A
pdb: 4I5J;4I5K;
length: 1150
go: ENSG00000073711;
snps: rs9814557 rs57374999 rs36020282 rs6779903 rs34901937 rs17197552 rs9826032 rs16843645
name:
Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha (PP2A subunit B isoform PR72/PR130) (PP2A subunit B isoform R3 isoform) (PP2A subunit B isoforms B''-PR72/PR130) (PP2A subunit B isoforms B72/B130) (Serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B)

sequence:

opentargets:
protein phosphatase type 2A complex [GO:0000159]; calcium ion binding [GO:0005509]; protein binding, bridging [GO:0030674]; protein phosphatase regulator activity [GO:0019888]; eye photoreceptor cell differentiation [GO:0001754]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of protein catabolic process [GO:0045732]; protein dephosphorylation [GO:0006470]; regulation of cell motility involved in somitogenic axis elongation [GO:0090249]; somatic muscle development [GO:0007525]; somite development [GO:0061053]; Wnt signaling pathway involved in somitogenesis [GO:0090244]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=PR130; Synonyms=130 kDa; IsoId=Q06190-1; Sequence=Displayed; Name=PR72; Synonyms=72 kDa; IsoId=Q06190-2; Sequence=VSP_005107, VSP_005108; Name=3; IsoId=Q06190-3; Sequence=VSP_045203; Note=No experimental confirmation available.; 


uniprotID: P13674
geneSymbol: P4HA1
reactome: R-HSA-1650814;
pdb: 1TJC;2V5F;2YQ8;4BT8;4BT9;4BTA;4BTB;
length: 534
go: ENSG00000122884;
drug: DB01275;DB00172;DB00139;DB00126;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
name:
Prolyl 4-hydroxylase subunit alpha-1 (4-PH alpha-1) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrion [GO:0005739]; procollagen-proline 4-dioxygenase complex [GO:0016222]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; procollagen-proline 4-dioxygenase activity [GO:0004656]; collagen fibril organization [GO:0030199]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13674-1; Sequence=Displayed; Name=2; IsoId=P13674-2; Sequence=VSP_004504; Name=3; IsoId=P13674-3; Sequence=VSP_004504, VSP_044578; Note=No experimental confirmation available.; 


uniprotID: P54886
geneSymbol: ALDH18A1
reactome: R-HSA-70614;
pdb: 2H5G;
length: 795
go: ENSG00000059573;
drug: DB00142;
name:
Delta-1-pyrroline-5-carboxylate synthase (P5CS) (Aldehyde dehydrogenase family 18 member A1) [Includes: Glutamate 5-kinase (GK) (EC 2.7.2.11) (Gamma-glutamyl kinase); Gamma-glutamyl phosphate reductase (GPR) (EC 1.2.1.41) (Glutamate-5-semialdehyde dehydrogenase) (Glutamyl-gamma-semialdehyde dehydrogenase)]

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; delta1-pyrroline-5-carboxylate synthetase activity [GO:0017084]; glutamate 5-kinase activity [GO:0004349]; glutamate-5-semialdehyde dehydrogenase activity [GO:0004350]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; cellular amino acid biosynthetic process [GO:0008652]; citrulline biosynthetic process [GO:0019240]; glutamate metabolic process [GO:0006536]; L-proline biosynthetic process [GO:0055129]; ornithine biosynthetic process [GO:0006592]; proline biosynthetic process [GO:0006561]

snps:
rs121434582 rs863224945 rs768323248 rs863225045 rs863225045 rs863225044 rs864321669 rs864321670 rs2275272 rs3765571 rs869320690 rs766264810 rs752669339 rs774047299 rs121434583 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P54886-1; Sequence=Displayed; Name=Short; IsoId=P54886-2; Sequence=VSP_005215; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:26297558, ECO:0000269|PubMed:26320891}.


uniprotID: Q96C36
geneSymbol: PYCR2
reactome: R-HSA-70614;
name: Pyrroline-5-carboxylate reductase 2 (P5C reductase 2) (P5CR 2) (EC 1.5.1.2)
length: 320
go: ENSG00000143811;
drug: DB00172;DB00157;
snps: rs372781135 rs876657403
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; pyrroline-5-carboxylate reductase activity [GO:0004735]; cellular amino acid biosynthetic process [GO:0008652]; cellular response to oxidative stress [GO:0034599]; L-proline biosynthetic process [GO:0055129]; proline biosynthetic process [GO:0006561]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:2722838}. Mitochondrion {ECO:0000269|PubMed:23024808, ECO:0000269|PubMed:25865492}.


uniprotID: Q8NBR0
geneSymbol: TP53I13
name: Tumor protein p53-inducible protein 13 (Damage-stimulated cytoplasmic protein 1)
length: 393
go: ENSG00000167543;
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; negative regulation of cell cycle [GO:0045786]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; response to UV [GO:0009411]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:14767535}. Note=Associates with unknown subcellular structures in the cytoplasm.


uniprotID: P47712
geneSymbol: PLA2G4A
pdb: 1BCI;1CJY;1RLW;
length: 749
go: ENSG00000116711;
snps: rs28395828 rs121434634 rs12720588 rs121434635 rs28395831 rs2307198
reactome:
R-HSA-111995;R-HSA-1482788;R-HSA-1482798;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483115;R-HSA-1483166;R-HSA-2142753;R-HSA-418592;R-HSA-432142;R-HSA-6811436;

name:
Cytosolic phospholipase A2 (cPLA2) (Phospholipase A2 group IVA) [Includes: Phospholipase A2 (EC 3.1.1.4) (Phosphatidylcholine 2-acylhydrolase); Lysophospholipase (EC 3.1.1.5)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; lipid droplet [GO:0005811]; mitochondrial inner membrane [GO:0005743]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; calcium-dependent phospholipid binding [GO:0005544]; lysophospholipase activity [GO:0004622]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; arachidonic acid metabolic process [GO:0019369]; arachidonic acid secretion [GO:0050482]; cardiolipin acyl-chain remodeling [GO:0035965]; cellular response to antibiotic [GO:0071236]; glycerophospholipid catabolic process [GO:0046475]; icosanoid biosynthetic process [GO:0046456]; icosanoid metabolic process [GO:0006690]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]; platelet activating factor biosynthetic process [GO:0006663]; regulation of cell proliferation [GO:0042127]

drug:
DB00041;DB00411;DB00578;DB05029;DB00445;DB04827;DB00591;DB00588;DB04552;DB01083;DB01103;DB00086;DB04786;

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle. Note=Translocates to membrane vesicles in a calcium-dependent fashion.


uniprotID: Q9UP65
geneSymbol: PLA2G4C
reactome: R-HSA-1482788;R-HSA-1482839;R-HSA-1482922;R-HSA-1483115;R-HSA-1483152;
name: Cytosolic phospholipase A2 gamma (cPLA2-gamma) (EC 3.1.1.4) (Phospholipase A2 group IVC)
length: 541
go: ENSG00000105499;
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; calcium-dependent phospholipid binding [GO:0005544]; calcium-independent phospholipase A2 activity [GO:0047499]; lysophospholipase activity [GO:0004622]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; phospholipid binding [GO:0005543]; arachidonic acid metabolic process [GO:0019369]; glycerophospholipid catabolic process [GO:0046475]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; parturition [GO:0007567]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phospholipid metabolic process [GO:0006644]

snps:
rs11564522 rs2307279 rs11564532 rs11564534 rs2303744 rs2307282 rs11564538 rs156631 rs11564541 rs11564620 rs11564638 rs191276960 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UP65-1; Sequence=Displayed; Name=2; IsoId=Q9UP65-2; Sequence=VSP_045850; Name=3; IsoId=Q9UP65-3; Sequence=VSP_045849; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10085124, ECO:0000269|PubMed:14529291, ECO:0000269|PubMed:9705332}; Lipid-anchor {ECO:0000269|PubMed:10085124, ECO:0000269|PubMed:14529291, ECO:0000269|PubMed:9705332}.


uniprotID: P27986
geneSymbol: PIK3R1
length: 724
go: ENSG00000145675;
drug: DB01064;DB05210;
snps: rs3730089 rs748784250 rs17852841 rs397514047 rs397515453
reactome:
R-HSA-109704;R-HSA-112399;R-HSA-114604;R-HSA-1236382;R-HSA-1250342;R-HSA-1257604;R-HSA-1266695;R-HSA-1433557;R-HSA-1660499;R-HSA-180292;R-HSA-1839117;R-HSA-186763;R-HSA-1963642;R-HSA-198203;R-HSA-202424;R-HSA-2029485;R-HSA-210993;R-HSA-2219530;R-HSA-2424491;R-HSA-2730905;R-HSA-373753;R-HSA-388841;R-HSA-389357;R-HSA-416476;R-HSA-416482;R-HSA-430116;R-HSA-4420097;R-HSA-512988;R-HSA-5637810;R-HSA-5654689;R-HSA-5654695;R-HSA-5654710;R-HSA-5654720;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-6785807;R-HSA-6811558;R-HSA-8851907;R-HSA-8853334;R-HSA-8853338;R-HSA-8853659;R-HSA-9028335;R-HSA-912526;R-HSA-912631;R-HSA-9603381;R-HSA-983695;

pdb:
1A0N;1AZG;1H9O;1PBW;1PHT;1PIC;1PKS;1PKT;2IUG;2IUH;2IUI;2RD0;2V1Y;3HHM;3HIZ;3I5R;3I5S;4A55;4JPS;4L1B;4L23;4L2Y;4OVU;4OVV;4WAF;4YKN;4ZOP;5AUL;5FI4;5GJI;5ITD;5M6U;5SW8;5SWG;5SWO;5SWP;5SWR;5SWT;5SX8;5SX9;5SXA;5SXB;5SXC;5SXD;5SXE;5SXF;5SXI;5SXJ;5SXK;5UBT;5UK8;5UKJ;5UL1;5VLR;5XGH;5XGI;5XGJ;

name:
Phosphatidylinositol 3-kinase regulatory subunit alpha (PI3-kinase regulatory subunit alpha) (PI3K regulatory subunit alpha) (PtdIns-3-kinase regulatory subunit alpha) (Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha) (PI3-kinase subunit p85-alpha) (PtdIns-3-kinase regulatory subunit p85-alpha)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cis-Golgi network [GO:0005801]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum membrane [GO:1990578]; phosphatidylinositol 3-kinase complex [GO:0005942]; phosphatidylinositol 3-kinase complex, class IA [GO:0005943]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; ErbB-3 class receptor binding [GO:0043125]; insulin binding [GO:0043559]; insulin receptor binding [GO:0005158]; insulin receptor substrate binding [GO:0043560]; insulin-like growth factor receptor binding [GO:0005159]; neurotrophin TRKA receptor binding [GO:0005168]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylinositol 3-kinase regulator activity [GO:0035014]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; phosphotyrosine residue binding [GO:0001784]; protein heterodimerization activity [GO:0046982]; protein phosphatase binding [GO:0019903]; transcription factor binding [GO:0008134]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; axon guidance [GO:0007411]; B cell differentiation [GO:0030183]; cellular glucose homeostasis [GO:0001678]; cellular response to insulin stimulus [GO:0032869]; cellular response to UV [GO:0034644]; cytokine-mediated signaling pathway [GO:0019221]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; G protein-coupled receptor signaling pathway [GO:0007186]; growth hormone receptor signaling pathway [GO:0060396]; insulin receptor signaling pathway [GO:0008286]; insulin-like growth factor receptor signaling pathway [GO:0048009]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; leukocyte migration [GO:0050900]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of osteoclast differentiation [GO:0045671]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-mediated signaling [GO:0048015]; platelet activation [GO:0030168]; positive regulation of cell migration [GO:0030335]; positive regulation of endoplasmic reticulum unfolded protein response [GO:1900103]; positive regulation of glucose import [GO:0046326]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of RNA splicing [GO:0033120]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; protein import into nucleus [GO:0006606]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of phosphatidylinositol 3-kinase activity [GO:0043551]; regulation of stress fiber assembly [GO:0051492]; response to endoplasmic reticulum stress [GO:0034976]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P27986-1; Sequence=Displayed; Name=2; Synonyms=AS53; IsoId=P27986-2; Sequence=VSP_021842, VSP_021843; Name=3; Synonyms=p46; IsoId=P27986-3; Sequence=VSP_021841, VSP_021844; Name=4; Synonyms=p85I; IsoId=P27986-4; Sequence=VSP_021845; Name=5; IsoId=P27986-5; Sequence=VSP_045903; Note=No experimental confirmation available.; 


uniprotID: Q8NH19
geneSymbol: OR10AG1
reactome: R-HSA-381753;
name: Olfactory receptor 10AG1 (Olfactory receptor OR11-160)
length: 301
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NHA4
geneSymbol: OR2AE1
reactome: R-HSA-381753;
name: Olfactory receptor 2AE1 (Olfactory receptor 2AE2)
length: 323
snps: rs2572023 rs60737583 rs17161997
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9UKK6
geneSymbol: NXT1
reactome: R-HSA-159236;
pdb: 1JKG;1JN5;4WYK;
name: NTF2-related export protein 1 (Protein p15)
length: 140
go: ENSG00000132661;
sequence:
MASVDFKTYVDQACRAAEEFVNVYYTTMDKRRRLLSRLYMGTATLVWNGNAVSGQESLSEFFEMLPSSEFQISVVDCQPVHDEATPSQTTVLVVICGSVKFEGNKQRDFNQNFILTAQASPSNTVWKIASDCFRFQDWAS

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear pore [GO:0005643]; nuclear pore central transport channel [GO:0044613]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; mRNA export from nucleus [GO:0006406]; nucleocytoplasmic transport [GO:0006913]; protein import into nucleus [GO:0006606]

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle {ECO:0000305}. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm.


uniprotID: Q9Y4A9
geneSymbol: OR10H1
reactome: R-HSA-381753;
name: Olfactory receptor 10H1 (Olfactory receptor OR19-27)
length: 318
snps: rs4808383 rs4808382 rs1859298
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9NPJ8
geneSymbol: NXT2
name: NTF2-related export protein 2 (Protein p15-2)
length: 142
go: ENSG00000101888;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm.
sequence:
MATSLDFKTYVDQACRAAEEFVNIYYETMDKRRRALTRLYLDKATLIWNGNAVSGLDALNNFFDTLPSSEFQVNMLDCQPVHEQATQSQTTVLVVTSGTVKFDGNKQHFFNQNFLLTAQSTPNNTVWKIASDCFRFQDWSSS

opentargets:
cytosol [GO:0005829]; nuclear pore central transport channel [GO:0044613]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; protein transporter activity [GO:0008565]; mRNA transport [GO:0051028]; nucleocytoplasmic transport [GO:0006913]; protein import into nucleus [GO:0006606]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A, p15-2a; IsoId=Q9NPJ8-1; Sequence=Displayed; Name=2; Synonyms=B, p15-2b; IsoId=Q9NPJ8-2; Sequence=VSP_003604; Note=Incomplete sequence.; Name=3; IsoId=Q9NPJ8-3; Sequence=VSP_037540; Name=4; IsoId=Q9NPJ8-4; Sequence=VSP_037539; 


uniprotID: P30954
geneSymbol: OR10J1
reactome: R-HSA-381753;
name: Olfactory receptor 10J1 (Olfactory receptor OR1-26) (Olfactory receptor-like protein HGMP07J)
length: 320
go: ENSG00000196184;
snps: rs10908722 rs12048482 rs12118628
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of chemical stimulus [GO:0007606]; single fertilization [GO:0007338]


uniprotID: Q8NGK0
geneSymbol: OR51G2
reactome: R-HSA-381753;
name: Olfactory receptor 51G2 (Olfactory receptor OR11-28)
length: 314
go: ENSG00000176893;
snps: rs16907312 rs12419598
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H343
geneSymbol: OR51I1
reactome: R-HSA-381753;
name: Olfactory receptor 51I1 (Odorant receptor HOR5'beta11) (Olfactory receptor OR11-39)
length: 314
snps: rs16930982 rs11037445 rs1498486
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NG92
geneSymbol: OR13H1
reactome: R-HSA-381753;
name: Olfactory receptor 13H1 (Olfactory receptor ORX-1)
length: 308
snps: rs655415
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGQ4
geneSymbol: OR10Q1
reactome: R-HSA-381753;
name: Olfactory receptor 10Q1 (Olfactory receptor OR11-233)
length: 319
snps: rs4245219 rs11229301
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN2
geneSymbol: OR10S1
reactome: R-HSA-381753;
name: Olfactory receptor 10S1 (Olfactory receptor OR11-279)
length: 331
go: ENSG00000196248;
snps: rs17759513 rs17686210 rs17759447
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6ND48
geneSymbol: OR14I1
reactome: R-HSA-381753;
name: Olfactory receptor 14I1 (Olfactory receptor 5BU1)
length: 311
go: ENSG00000189181;
snps: rs4462184 rs4509608 rs41311583 rs2000390 rs55871516
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGZ2
geneSymbol: OR14K1
reactome: R-HSA-381753;
name: Olfactory receptor 14K1 (Olfactory receptor 5AY1) (Olfactory receptor OR1-39)
length: 314
go: ENSG00000153230;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O15294
geneSymbol: OGT
reactome: R-HSA-3214847;R-HSA-5689603;
length: 1046
go: ENSG00000147162;
snps: rs1131692155 rs1114167891
pdb:
1W3B;3PE3;3PE4;3TAX;4AY5;4AY6;4CDR;4GYW;4GYY;4GZ3;4GZ5;4GZ6;4N39;4N3A;4N3B;4N3C;4XI9;4XIF;5BNW;5C1D;5HGV;5LVV;5LWV;5NPR;5NPS;5VIE;5VIF;6EOU;

name:
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit (EC 2.4.1.255) (O-GlcNAc transferase subunit p110) (O-linked N-acetylglucosamine transferase 110 kDa subunit)

sequence:

opentargets:
cell projection [GO:0042995]; cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; mitochondrial membrane [GO:0031966]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; acetylglucosaminyltransferase activity [GO:0008375]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; protein N-acetylglucosaminyltransferase activity [GO:0016262]; protein O-GlcNAc transferase activity [GO:0097363]; apoptotic process [GO:0006915]; circadian regulation of gene expression [GO:0032922]; histone H3-K4 trimethylation [GO:0080182]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein ubiquitination [GO:0031397]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of histone H3-K27 methylation [GO:0061087]; positive regulation of proteolysis [GO:0045862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; protein O-linked glycosylation [GO:0006493]; protein processing [GO:0016485]; regulation of gluconeogenesis [GO:0006111]; regulation of glycolytic process [GO:0006110]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of Rac protein signal transduction [GO:0035020]; regulation of transcription by RNA polymerase II [GO:0006357]; response to insulin [GO:0032868]; response to nutrient [GO:0007584]; signal transduction [GO:0007165]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; Synonyms=Nucleocytoplasmic isoform, ncOGT; IsoId=O15294-1; Sequence=Displayed; Name=2; Synonyms=Mitochondrial isoform, mOGT; IsoId=O15294-2; Sequence=VSP_006553; Name=1; IsoId=O15294-3; Sequence=VSP_014164; Name=4; Synonyms=Short isoform, sOGT; IsoId=O15294-4; Sequence=VSP_040764; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26678539}. Cytoplasm {ECO:0000269|PubMed:26678539}. Note=Predominantly localizes to the nucleus. {ECO:0000269|PubMed:26678539}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion {ECO:0000269|PubMed:20824293}. Membrane {ECO:0000269|PubMed:20824293}. Note=Associates with the mitochondrial inner membrane. {ECO:0000269|PubMed:20824293}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:21285374}. Nucleus {ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:21285374}. Cell membrane {ECO:0000250|UniProtKB:P56558}. Mitochondrion membrane {ECO:0000250|UniProtKB:P56558}. Cell projection {ECO:0000250|UniProtKB:P56558}. Note=Mostly in the nucleus. Retained in the nucleus via interaction with HCFC1 (PubMed:21285374). After insulin induction, translocated from the nucleus to the cell membrane via phophatidylinositide binding. Colocalizes with AKT1 at the plasma membrane. TRAK1 recruits this protein to mitochondria. In the absence of TRAK1, localizes in cytosol and nucleus (By similarity). {ECO:0000250|UniProtKB:P56558, ECO:0000269|PubMed:21285374}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Nucleus.


uniprotID: O00330
geneSymbol: PDHX
reactome: R-HSA-204174;R-HSA-389661;R-HSA-5362517;R-HSA-70268;
pdb: 1ZY8;2DNC;2F5Z;2F60;
length: 501
go: ENSG00000110435;
snps: rs1049306 rs11539202 rs17850649
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Pyruvate dehydrogenase protein X component, mitochondrial (Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex) (E3-binding protein) (E3BP) (Lipoyl-containing pyruvate dehydrogenase complex component X) (proX)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; pyruvate dehydrogenase complex [GO:0045254]; transferase activity, transferring acyl groups [GO:0016746]; mitochondrial acetyl-CoA biosynthetic process from pyruvate [GO:0061732]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00330-1; Sequence=Displayed; Name=2; IsoId=O00330-2; Sequence=VSP_045271; Note=No experimental confirmation available.; Name=3; IsoId=O00330-3; Sequence=VSP_053817; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P48634
geneSymbol: PRRC2A
length: 2157
go: ENSG00000204469;
name:
Protein PRRC2A (HLA-B-associated transcript 2) (Large proline-rich protein BAT2) (Proline-rich and coiled-coil-containing protein 2A) (Protein G2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]

snps:
rs1062968 rs6921213 rs2280801 rs17857493 rs1046080 rs2844469 rs1046081 rs11538262 rs771808977 rs151148973 rs2736158 rs35464047 rs2857703 rs2272593 rs34175432 rs11538263 rs1046089 rs2844491 rs11538264 rs11538264 rs3132453 rs10885 rs34137317 rs1046756 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P48634-1; Sequence=Displayed; Name=2; IsoId=P48634-2; Sequence=VSP_015099, VSP_015100, VSP_015101, VSP_015102; Name=3; IsoId=P48634-3; Sequence=VSP_015100, VSP_015101, VSP_015102; Name=4; IsoId=P48634-4; Sequence=VSP_030865; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15752841}. Nucleus {ECO:0000269|PubMed:15752841}.


uniprotID: P41143
geneSymbol: OPRD1
reactome: R-HSA-375276;R-HSA-418594;R-HSA-6785807;
pdb: 1OZC;2IQM;4N6H;4RWA;4RWD;
name: Delta-type opioid receptor (D-OR-1) (DOR-1)
length: 372
go: ENSG00000116329;
snps: rs1042114
sequence:

opentargets:
axon terminus [GO:0043679]; dendrite membrane [GO:0032590]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; integral component of synaptic vesicle membrane [GO:0030285]; intrinsic component of plasma membrane [GO:0031226]; membrane raft [GO:0045121]; neuronal dense core vesicle [GO:0098992]; plasma membrane [GO:0005886]; spine apparatus [GO:0097444]; enkephalin receptor activity [GO:0038046]; G protein-coupled receptor activity [GO:0004930]; neuropeptide binding [GO:0042923]; opioid receptor activity [GO:0004985]; receptor serine/threonine kinase binding [GO:0033612]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adult locomotory behavior [GO:0008344]; cellular response to growth factor stimulus [GO:0071363]; cellular response to hypoxia [GO:0071456]; cellular response to toxic substance [GO:0097237]; cytokine-mediated signaling pathway [GO:0019221]; eating behavior [GO:0042755]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; immune response [GO:0006955]; negative regulation of gene expression [GO:0010629]; negative regulation of protein oligomerization [GO:0032460]; neuropeptide signaling pathway [GO:0007218]; opioid receptor signaling pathway [GO:0038003]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; protein import into nucleus, translocation [GO:0000060]; regulation of calcium ion transport [GO:0051924]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of sensory perception of pain [GO:0051930]

drug:
DB01571;DB01439;DB05050;DB06274;DB00321;DB00921;DB00611;DB01535;DB00318;DB00514;DB00647;DB01565;DB01444;DB01081;DB01548;DB09272;DB01497;DB00813;DB01452;DB00956;DB00327;DB01221;DB06738;DB00854;DB00836;DB00333;DB00295;DB00844;DB01183;DB00704;DB00497;DB01192;DB09396;DB00899;DB00708;DB06204;DB00193;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22184124, ECO:0000269|PubMed:7808419, ECO:0000269|PubMed:8201839}; Multi-pass membrane protein {ECO:0000269|PubMed:22184124, ECO:0000269|PubMed:7808419, ECO:0000269|PubMed:8201839}.


uniprotID: Q9H4Q4
geneSymbol: PRDM12
pdb: 3EP0;
name: PR domain zinc finger protein 12 (EC 2.1.1.-) (PR domain-containing protein 12)
length: 367
go: ENSG00000130711;
snps: rs879255637 rs879255636 rs767397937 rs755205487 rs879255638
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26005867}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase binding [GO:1990226]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; neurogenesis [GO:0022008]; neuron projection development [GO:0031175]; positive regulation of histone H3-K9 dimethylation [GO:1900111]; positive regulation of histone H3-K9 methylation [GO:0051574]; sensory perception of pain [GO:0019233]


uniprotID: P08100
geneSymbol: RHO
reactome: R-HSA-2453902;R-HSA-2485179;R-HSA-2514859;R-HSA-418594;R-HSA-419771;R-HSA-5620916;
pdb: 4ZWJ;5DGY;5W0P;6CMO;
name: Rhodopsin (Opsin-2)
length: 348
go: ENSG00000163914;
drug: DB04233;DB03152;DB01159;DB04450;DB03381;DB04147;DB01646;DB03796;DB04522;DB02482;
sequence:

opentargets:
cell-cell junction [GO:0005911]; ciliary membrane [GO:0060170]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; photoreceptor disc membrane [GO:0097381]; photoreceptor inner segment [GO:0001917]; photoreceptor inner segment membrane [GO:0060342]; photoreceptor outer segment [GO:0001750]; photoreceptor outer segment membrane [GO:0042622]; plasma membrane [GO:0005886]; 11-cis retinal binding [GO:0005502]; G protein-coupled photoreceptor activity [GO:0008020]; G protein-coupled receptor activity [GO:0004930]; metal ion binding [GO:0046872]; absorption of visible light [GO:0016038]; cellular response to light stimulus [GO:0071482]; G protein-coupled receptor signaling pathway [GO:0007186]; photoreceptor cell maintenance [GO:0045494]; phototransduction [GO:0007602]; phototransduction, visible light [GO:0007603]; protein phosphorylation [GO:0006468]; protein-chromophore linkage [GO:0018298]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; retina development in camera-type eye [GO:0060041]; retinoid metabolic process [GO:0001523]; rhodopsin mediated signaling pathway [GO:0016056]; visual perception [GO:0007601]

snps:
rs104893786 rs104893769 rs104893768 rs774336493 rs104893770 rs149079952 rs104893792 rs28933395 rs28933394 rs104893771 rs104893772 rs104893790 rs104893796 rs144317206 rs104893773 rs104893773 rs1415160298 rs104893787 rs104893788 rs104893774 rs104893775 rs104893791 rs104893793 rs104893793 rs104893794 rs104893776 rs775557680 rs104893780 rs527236100 rs104893777 rs104893779 rs104893779 rs104893782 rs567288669 rs28933993 rs766161322 rs104893781 rs104893789 rs29001653 rs183318466 rs104893795 rs104893795 rs29001566 rs29001566 rs29001566 rs29001637 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12566452, ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:25664179, ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28753425}; Multi-pass membrane protein {ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28753425}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:25664179}. Note=Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to disk membranes in the rod outer segment (OS) photosensory cilia. {ECO:0000269|PubMed:25664179}.


uniprotID: Q8NHA8
geneSymbol: OR1F12
reactome: R-HSA-381753;
name: Olfactory receptor 1F12 (Hs6M1-35P)
length: 337
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P47890
geneSymbol: OR1G1
reactome: R-HSA-381753;
length: 313
go: ENSG00000183024;
snps: rs9892491
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 1G1 (Olfactory receptor 17-209) (OR17-209) (Olfactory receptor 1G2) (Olfactory receptor OR17-8)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; signal transduction [GO:0007165]


uniprotID: O60431
geneSymbol: OR1I1
reactome: R-HSA-381753;
name: Olfactory receptor 1I1 (Olfactory receptor 19-20) (OR19-20)
length: 355
snps: rs59166286 rs8104843 rs76524797 rs8108721 rs8105737 rs75323205 rs16980312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS1
geneSymbol: OR1J4
reactome: R-HSA-381753;
name: Olfactory receptor 1J4 (HTPCRX01) (Olfactory receptor OR9-21)
length: 313
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH94
geneSymbol: OR1L1
reactome: R-HSA-381753;
length: 360
snps: rs70157 rs16912055 rs237620 rs16912062
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 1L1 (Olfactory receptor 1L2) (Olfactory receptor 9-C) (OR9-C) (Olfactory receptor OR9-27)

sequence:


uniprotID: Q8NGR5
geneSymbol: OR1L4
reactome: R-HSA-381753;
length: 311
go: ENSG00000136939;
snps: rs2215530 rs12341025
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 1L4 (OST046) (Olfactory receptor 1L5) (Olfactory receptor 9-E) (OR9-E) (Olfactory receptor OR9-29)

sequence:


uniprotID: O43900
geneSymbol: PRICKLE3
length: 615
go: ENSG00000012211;
snps: rs7065449
name:
Prickle planar cell polarity protein 3 (LIM domain only protein 6) (LMO-6) (Prickle-like protein 3) (Pk3) (Triple LIM domain protein 6)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; zinc ion binding [GO:0008270]; cell projection organization [GO:0030030]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43900-1; Sequence=Displayed; Name=2; IsoId=O43900-2; Sequence=VSP_056568, VSP_056569; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A8WH69}. Cell membrane {ECO:0000250|UniProtKB:A8WH69}; Peripheral membrane protein {ECO:0000250|UniProtKB:A8WH69}; Cytoplasmic side {ECO:0000250|UniProtKB:A8WH69}. Note=Recruited by VANGL2 to anterior cell borders. This polarity is controlled by Wnt proteins (By similarity). WTIP is involved in the recruitment of PRICKLE3 to the basal body (By similarity). {ECO:0000250|UniProtKB:A8WH69}.


uniprotID: Q9BXB5
geneSymbol: OSBPL10
reactome: R-HSA-1482801;
name: Oxysterol-binding protein-related protein 10 (ORP-10) (OSBP-related protein 10)
length: 764
go: ENSG00000144645;
snps: rs2290532
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; phosphatidylserine binding [GO:0001786]; phospholipid transporter activity [GO:0005548]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; phosphatidylserine acyl-chain remodeling [GO:0036150]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXB5-1; Sequence=Displayed; Name=2; IsoId=Q9BXB5-2; Sequence=VSP_042930; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19554302, ECO:0000269|PubMed:22906437}. Note=Associates with microtubules. {ECO:0000269|PubMed:19554302, ECO:0000269|PubMed:22906437}.


uniprotID: Q7RTZ1
geneSymbol: OVCH2
name: Ovochymase-2 (EC 3.4.21.-) (Oviductin)
length: 564
snps: rs7927138 rs12289558 rs10839849 rs3925028 rs4528317 rs4528317 rs3925027 rs4519083 rs4633461
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; serine-type endopeptidase activity [GO:0004252]


uniprotID: Q86WC4
geneSymbol: OSTM1
reactome: R-HSA-2672351;
name: Osteopetrosis-associated transmembrane protein 1 (Chloride channel 7 beta subunit)
length: 334
go: ENSG00000081087;
snps: rs9480830
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; osteoclast differentiation [GO:0030316]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:21527911}; Single-pass type I membrane protein {ECO:0000269|PubMed:21527911}. Note=Requires CLCN7 to travel to lysosomes.


uniprotID: P00480
geneSymbol: OTC
reactome: R-HSA-1268020;R-HSA-70635;
pdb: 1C9Y;1EP9;1FVO;1OTH;
name: Ornithine carbamoyltransferase, mitochondrial (EC 2.1.3.3) (Ornithine transcarbamylase) (OTCase)
length: 354
go: ENSG00000036473;
drug: DB03519;DB00155;DB00129;DB02011;DB04185;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; amino acid binding [GO:0016597]; ornithine carbamoyltransferase activity [GO:0004585]; phosphate ion binding [GO:0042301]; phospholipid binding [GO:0005543]; ammonia homeostasis [GO:0097272]; anion homeostasis [GO:0055081]; arginine biosynthetic process via ornithine [GO:0042450]; citrulline biosynthetic process [GO:0019240]; liver development [GO:0001889]; midgut development [GO:0007494]; ornithine catabolic process [GO:0006593]; protein homotrimerization [GO:0070207]; response to biotin [GO:0070781]; response to insulin [GO:0032868]; response to zinc ion [GO:0010043]; urea cycle [GO:0000050]

snps:
rs68031618 rs72554306 rs72554307 rs72554308 rs72554309 rs72554310 rs72554312 rs72554311 rs1800321 rs67939655 rs67486158 rs72554319 rs72554320 rs72554323 rs72554324 rs72554331 rs72554337 rs72554336 rs72554338 rs72554339 rs72554342 rs66550389 rs72554344 rs72554345 rs72554349 rs1133135 rs72554350 rs1800324 rs66539573 rs66539573 rs72554356 rs72554358 rs66656800 rs72556259 rs72556260 rs68026851 rs68026851 rs66741318 rs72556269 rs67954347 rs72556271 rs66626662 rs72556276 rs66867430 rs72556279 rs72556280 rs72556281 rs68033093 rs72556283 rs72556284 rs72556287 rs72556290 rs72556291 rs72556293 rs72556292 rs72556294 rs72556295 rs72556296 rs72556298 rs67294955 rs72556300 rs66642398 rs72556302 rs72556301 rs72558404 rs72558407 rs72558408 rs72558410 rs72558413 rs72558412 rs72558415 rs72558416 rs72558417 rs72558420 rs72558423 rs72558425 rs67120076 rs67120076 rs72558428 rs72558435 rs72558436 rs72558437 rs72558440 rs67333670 rs72558443 rs72558442 rs72558444 rs67156896 rs72558446 rs72558448 rs72558449 rs72558450 rs1800328 rs66724222 rs72558454 rs72558462 rs67993095 rs67870244 rs72558463 rs67468335 rs72558464 rs72558465 rs67501347 rs72558474 rs72558476 rs72558478 rs72558486 rs72558487 rs72558488 rs72558489 rs72558490 rs72558491 rs72558492 rs66469337 rs72558495 


uniprotID: Q7RTU3
geneSymbol: OLIG3
length: 272
go: ENSG00000177468;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Oligodendrocyte transcription factor 3 (Oligo3) (Class B basic helix-loop-helix protein 7) (bHLHb7) (Class E basic helix-loop-helix protein 20) (bHLHe20)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]; spinal cord motor neuron cell fate specification [GO:0021520]; spinal cord motor neuron migration [GO:0097476]


uniprotID: Q5VWM5
geneSymbol: PRAMEF9; PRAMEF15
name: PRAME family member 9/15
length: 478
go: ENSG00000204501;
sequence:


uniprotID: P02812
geneSymbol: PRB2
length: 416
opentargets: extracellular region [GO:0005576]
snps: rs34305575 rs10845349
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Basic salivary proline-rich protein 2 (Salivary proline-rich protein) (Con1 glycoprotein) [Cleaved into: Basic proline-rich peptide IB-1; Basic proline-rich peptide P-E (IB-9); Basic proline-rich peptide IB-7; Basic proline-rich peptide IB-8c (Basic peptide P-F); Basic proline-rich peptide IB-4]

sequence:


uniprotID: P10163
geneSymbol: PRB4
length: 310
opentargets: extracellular region [GO:0005576]
snps: rs11054244 rs11054243 rs12308244 rs1052808
location: SUBCELLULAR LOCATION: Secreted.
name:
Basic salivary proline-rich protein 4 (Salivary proline-rich protein Po) (Parotid o protein) (Salivary proline-rich protein II-1) [Cleaved into: Protein N1; Glycosylated protein A; Peptide P-D (Proline-rich peptide IB-5)]

sequence:


uniprotID: Q8NCQ7
geneSymbol: PROCA1
name: Protein PROCA1 (Protein interacting with cyclin A1)
length: 364
go: ENSG00000167525;
snps: rs1077127 rs3744637
sequence:

opentargets:
cyclin binding [GO:0030332]; phospholipase A2 activity [GO:0004623]; arachidonic acid secretion [GO:0050482]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCQ7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8NCQ7-2; Sequence=VSP_033988; Name=3; IsoId=Q8NCQ7-3; Sequence=VSP_053931, VSP_053932; 


uniprotID: Q8NGR6
geneSymbol: OR1B1
reactome: R-HSA-381753;
name: Olfactory receptor 1B1 (Olfactory receptor 9-B) (OR9-B) (Olfactory receptor OR9-26)
length: 318
snps: rs1536929 rs1476859 rs1476858 rs1556189
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q15619
geneSymbol: OR1C1
reactome: R-HSA-381753;
name: Olfactory receptor 1C1 (Olfactory receptor OR1-42) (Olfactory receptor TPCR27)
length: 314
snps: rs12068080
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: P47884
geneSymbol: OR1D4
reactome: R-HSA-381753;
name: Olfactory receptor 1D4 (Olfactory receptor 17-30) (OR17-30)
length: 311
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of chemical stimulus [GO:0007606]


uniprotID: P47887
geneSymbol: OR1E2
reactome: R-HSA-381753;
length: 323
snps: rs769431
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 1E2 (Olfactory receptor 17-93/17-135/17-136) (OR17-135) (OR17-136) (OR17-93) (Olfactory receptor 1E4)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; signaling receptor activity [GO:0038023]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of chemical stimulus [GO:0007606]; signal transduction [GO:0007165]


uniprotID: Q8WZA6
geneSymbol: OR1E3
reactome: R-HSA-381753;
name: Olfactory receptor 1E3 (Olfactory receptor 17-210) (OR17-210) (Olfactory receptor OR17-7)
length: 343
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGX9
geneSymbol: OR6P1
reactome: R-HSA-381753;
name: Olfactory receptor 6P1 (Olfactory receptor OR1-12)
length: 317
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH00
geneSymbol: OR2T4
reactome: R-HSA-381753;
name: Olfactory receptor 2T4 (Olfactory receptor OR1-60)
length: 348
snps: rs57795102
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGI4
geneSymbol: OR4D11
reactome: R-HSA-381753;
name: Olfactory receptor 4D11
length: 311
go: ENSG00000176200;
snps: rs7120079
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NET4
geneSymbol: OR5K3
reactome: R-HSA-381753;
name: Olfactory receptor 5K3
length: 321
snps: rs13068323
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N148
geneSymbol: OR6V1
reactome: R-HSA-381753;
name: Olfactory receptor 6V1 (Olfactory receptor OR7-3)
length: 313
snps: rs10245778 rs7791886 rs7779316
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGL0
geneSymbol: OR5L2
reactome: R-HSA-381753;
name: Olfactory receptor 5L2 (HTPCRX16) (Olfactory receptor OR11-153)
length: 311
go: ENSG00000205030;
snps: rs56711116 rs17148058
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NHB1
geneSymbol: OR2V1
reactome: R-HSA-381753;
name: Olfactory receptor 2V1
length: 315
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGB9
geneSymbol: OR4F6
reactome: R-HSA-381753;
name: Olfactory receptor 4F6 (Olfactory receptor 4F12) (Olfactory receptor OR15-15)
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGD2
geneSymbol: OR4K2
reactome: R-HSA-381753;
name: Olfactory receptor 4K2 (Olfactory receptor OR14-15)
length: 314
snps: rs12883767
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96R72
geneSymbol: OR4K3
reactome: R-HSA-381753;
name: Olfactory receptor 4K3 (Olfactory receptor OR14-14)
length: 315
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NHA6
geneSymbol: OR2W6P
reactome: R-HSA-381753;
name: Putative olfactory receptor 2W6 (Olfactory receptor OR6-3) (Putative olfactory receptor 2W7)
length: 318
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8WZ92
geneSymbol: OR5P2
reactome: R-HSA-381753;
name: Olfactory receptor 5P2 (Olfactory receptor-like protein JCG3)
length: 322
go: ENSG00000183303;
snps: rs1482804 rs7949771
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH43
geneSymbol: OR4L1
reactome: R-HSA-381753;
name: Olfactory receptor 4L1 (Olfactory receptor 4L2) (Olfactory receptor OR14-28)
length: 312
snps: rs1958715 rs45584133 rs1958716 rs1959630 rs10139756 rs2775253 rs2775254 rs45585336
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG3
geneSymbol: OR5T3
reactome: R-HSA-381753;
name: Olfactory receptor 5T3 (Olfactory receptor OR11-178)
length: 340
go: ENSG00000172489;
snps: rs17150243
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGB6
geneSymbol: OR4M2
reactome: R-HSA-381753;
name: Olfactory receptor 4M2 (Olfactory receptor OR15-3)
length: 313
go: ENSG00000274102;
snps: rs1835183 rs11857531 rs491208 rs12593418 rs4087943
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O60412
geneSymbol: OR7C2
reactome: R-HSA-381753;
length: 319
snps: rs8113325 rs11883178
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 7C2 (Olfactory receptor 19-18) (OR19-18) (Olfactory receptor 7C3) (Olfactory receptor OR19-22)

sequence:


uniprotID: Q96RA2
geneSymbol: OR7D2
reactome: R-HSA-381753;
name: Olfactory receptor 7D2 (HTPCRH03) (Olfactory receptor 19-4) (OR19-4) (Olfactory receptor OR19-10)
length: 312
go: ENSG00000188000;
snps: rs13345452
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q8NG98
geneSymbol: OR7D4
reactome: R-HSA-381753;
length: 312
go: ENSG00000174667;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 7D4 (OR19-B) (Odorant receptor family subfamily D member 4RT) (Olfactory receptor OR19-7)

sequence:

snps:
rs57568862 rs144165121 rs778417216 rs61732668 rs5020280 rs61729907 rs748899150 rs5020278 rs5020277 rs138510982 rs4564704 


uniprotID: P0C623
geneSymbol: OR4Q2
reactome: R-HSA-381753;
name: Olfactory receptor 4Q2 (olfactory receptor OR14-21)
length: 307
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P47881
geneSymbol: OR3A1
reactome: R-HSA-381753;
name: Olfactory receptor 3A1 (Olfactory receptor 17-40) (OR17-40) (Olfactory receptor OR17-15)
length: 315
go: ENSG00000180090;
snps: rs16952828 rs703903
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; signal transduction [GO:0007165]


uniprotID: Q8NH73
geneSymbol: OR4S2
reactome: R-HSA-381753;
name: Olfactory receptor 4S2 (Olfactory receptor OR11-137)
length: 311
go: ENSG00000174982;
snps: rs17146960 rs7949664
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH49
geneSymbol: OR4X1
reactome: R-HSA-381753;
name: Olfactory receptor 4X1 (Olfactory receptor OR11-104)
length: 305
go: ENSG00000176567;
snps: rs1503193 rs16905753 rs12798361 rs17199104 rs10838852
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH87
geneSymbol: OR9G1
reactome: R-HSA-381753;
name: Olfactory receptor 9G1 (Olfactory receptor 9G5) (Olfactory receptor OR11-114)
length: 305
go: ENSG00000174914;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

snps:
rs532637 rs532635 rs3975155 rs2865520 rs602224 rs11228732 rs4990194 rs591369 rs11228733 rs11228735 rs12420076 rs10896517 rs10896516 rs7121276 


uniprotID: Q8NGQ5
geneSymbol: OR9Q1
reactome: R-HSA-381753;
name: Olfactory receptor 9Q1
length: 310
go: ENSG00000186509;
snps: rs12420738
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGE9
geneSymbol: OR9Q2
reactome: R-HSA-381753;
name: Olfactory receptor 9Q2
length: 314
snps: rs34337292
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGE1
geneSymbol: OR6C4
reactome: R-HSA-381753;
name: Olfactory receptor 6C4 (Olfactory receptor OR12-10)
length: 309
go: ENSG00000179626;
snps: rs7313899 rs11835716
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O76002
geneSymbol: OR2J2
reactome: R-HSA-381753;
name: Olfactory receptor 2J2 (Hs6M1-6) (Olfactory receptor 6-8) (OR6-8) (Olfactory receptor OR6-19)
length: 312
snps: rs3116855 rs3129157 rs3116856 rs3130743
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG6
geneSymbol: OR8B12
reactome: R-HSA-381753;
name: Olfactory receptor 8B12 (Olfactory receptor OR11-317)
length: 310
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N162
geneSymbol: OR8H2
reactome: R-HSA-381753;
name: Olfactory receptor 8H2 (Olfactory receptor OR11-171)
length: 312
snps: rs2512961 rs2449148 rs1842696
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N146
geneSymbol: OR8H3
reactome: R-HSA-381753;
name: Olfactory receptor 8H3 (Olfactory receptor OR11-172)
length: 312
go: ENSG00000181761;
snps: rs7107077 rs1842691 rs17531522 rs11606538
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG1
geneSymbol: OR8J2
reactome: R-HSA-381753;
name: Olfactory receptor 8J2
length: 315
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q8NGG0
geneSymbol: OR8J3
reactome: R-HSA-381753;
name: Olfactory receptor 8J3 (Olfactory receptor OR11-173)
length: 315
snps: rs1947924 rs7937461 rs1384094 rs17150102
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG5
geneSymbol: OR8K1
reactome: R-HSA-381753;
name: Olfactory receptor 8K1 (Olfactory receptor OR11-182)
length: 319
snps: rs10896271 rs10896272 rs17614327
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH50
geneSymbol: OR8K5
reactome: R-HSA-381753;
name: Olfactory receptor 8K5 (Olfactory receptor OR11-174)
length: 307
snps: rs2512938
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH09
geneSymbol: OR8S1
reactome: R-HSA-381753;
name: Olfactory receptor 8S1
length: 359
snps: rs2731073 rs4075258 rs12425460
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH10
geneSymbol: OR8U1
reactome: R-HSA-381753;
name: Olfactory receptor 8U1
length: 309
go: ENSG00000172199;
snps: rs11228166 rs12788990 rs10791961 rs10791962 rs17150411 rs10896310 rs10896309 rs1573509 rs12272403
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9NRC9
geneSymbol: OTOR
name: Otoraplin (Fibrocyte-derived protein) (Melanoma inhibitory activity-like protein)
length: 128
go: ENSG00000125879;
snps: rs6135876
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MARILLLFLPGLVAVCAVHGIFMDRLASKKLCADDECVYTISLASAQEDYNAPDCRFINVKKGQQIYVYSKLVKENGAGEFWAGSVYGDGQDEMGVVGYFPRNLVKEQRVYQEATKEVPTTDIDFFCE

opentargets:
extracellular region [GO:0005576]; cartilage condensation [GO:0001502]; sensory perception of sound [GO:0007605]


uniprotID: Q7RTY7
geneSymbol: OVCH1
name: Ovochymase-1 (EC 3.4.21.-)
length: 1134
snps: rs10843438 rs967181 rs3847680 rs7975356 rs35183403 rs11050243 rs12305672 rs1347570 rs7967676
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; metal ion binding [GO:0046872]; serine-type endopeptidase activity [GO:0004252]


uniprotID: Q5XKR4
geneSymbol: OTP
name: Homeobox protein orthopedia
length: 325
go: ENSG00000171540;
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; forebrain neuron differentiation [GO:0021879]; hypothalamus cell differentiation [GO:0021979]; neurohypophysis development [GO:0021985]; positive regulation of neuroblast proliferation [GO:0002052]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:10458915}.


uniprotID: Q9H4B0
geneSymbol: OSGEPL1
length: 414
go: ENSG00000128694;
snps: rs3749014
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03179, ECO:0000269|PubMed:19694617}.
name:
Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial (EC 2.3.1.234) (N6-L-threonylcarbamoyladenine synthase) (t(6)A synthase) (O-sialoglycoprotein endopeptidase-like protein 1) (t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1) (tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1)

sequence:

opentargets:
EKC/KEOPS complex [GO:0000408]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; N(6)-L-threonylcarbamoyladenine synthase activity [GO:0061711]; tRNA threonylcarbamoyladenosine modification [GO:0002949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H4B0-1; Sequence=Displayed; Name=2; IsoId=Q9H4B0-2; Sequence=VSP_028830; Name=3; IsoId=Q9H4B0-3; Sequence=VSP_028828, VSP_028829; 


uniprotID: Q99489
geneSymbol: DDO
reactome: R-HSA-389661;R-HSA-9033241;
name: D-aspartate oxidase (DASOX) (DDO) (EC 1.4.3.1)
length: 341
go: ENSG00000203797;
snps: rs17622 rs17621 rs17623
location: SUBCELLULAR LOCATION: Peroxisome.
sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; cofactor binding [GO:0048037]; D-aspartate oxidase activity [GO:0008445]; FAD binding [GO:0071949]; signaling receptor binding [GO:0005102]; aspartate catabolic process [GO:0006533]; aspartate metabolic process [GO:0006531]; cellular nitrogen compound metabolic process [GO:0034641]; D-amino acid catabolic process [GO:0019478]; grooming behavior [GO:0007625]; hormone metabolic process [GO:0042445]; insemination [GO:0007320]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=DDO-1; Synonyms=A; IsoId=Q99489-1; Sequence=Displayed; Name=DDO-2; IsoId=Q99489-2; Sequence=VSP_001269; Name=3; IsoId=Q99489-3; Sequence=VSP_037664; Name=4; IsoId=Q99489-4; Sequence=VSP_037664, VSP_001269; 


uniprotID: Q8NGK9
geneSymbol: OR5D16
reactome: R-HSA-381753;
name: Olfactory receptor 5D16 (Olfactory receptor OR11-154)
length: 328
snps: rs6591700
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGL1
geneSymbol: OR5D18
reactome: R-HSA-381753;
name: Olfactory receptor 5D18 (Olfactory receptor OR11-143) (Olfactory receptor OR11-152)
length: 313
snps: rs7948629 rs11231180 rs297081 rs55832853
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q15615
geneSymbol: OR4D1
reactome: R-HSA-381753;
name: Olfactory receptor 4D1 (Olfactory receptor 4D3) (Olfactory receptor TPCR16)
length: 310
go: ENSG00000141194;
snps: rs12602205 rs7218964
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: O43869
geneSymbol: OR2T1
reactome: R-HSA-381753;
name: Olfactory receptor 2T1 (Olfactory receptor 1-25) (OR1-25) (Olfactory receptor OR1-61)
length: 369
snps: rs28599722
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0DN80
geneSymbol: OR5H8
name: Olfactory receptor 5H8 (Olfactory receptor 5H8 pseudogene) (Olfactory receptor OR3-7)
length: 308
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
sequence:


uniprotID: Q13606
geneSymbol: OR5I1
reactome: R-HSA-381753;
name: Olfactory receptor 5I1 (Olfactory receptor OR11-159) (Olfactory receptor-like protein OLF1)
length: 314
go: ENSG00000167825;
snps: rs17597625 rs4367963 rs9666086 rs9665861
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; odorant binding [GO:0005549]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]; signal transduction [GO:0007165]


uniprotID: Q8NHB7
geneSymbol: OR5K1
reactome: R-HSA-381753;
name: Olfactory receptor 5K1 (HTPCRX10) (Olfactory receptor OR3-8)
length: 308
go: ENSG00000232382;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH40
geneSymbol: OR6S1
reactome: R-HSA-381753;
name: Olfactory receptor 6S1 (Olfactory receptor OR14-37)
length: 331
snps: rs11622794 rs11622969 rs17277522 rs17114309
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NMS3
geneSymbol: OR5K4
reactome: R-HSA-381753;
name: Olfactory receptor 5K4
length: 321
snps: rs9822460
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IEY1
geneSymbol: OR4F3; OR4F16; OR4F29
reactome: R-HSA-381753;
name: Olfactory receptor 4F3/4F16/4F29 (Olfactory receptor OR1-1)
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96R69
geneSymbol: OR4F4
reactome: R-HSA-381753;
name: Olfactory receptor 4F4 (HS14a-1-A) (Olfactory receptor OR19-3)
length: 305
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGX8
geneSymbol: OR6Y1
reactome: R-HSA-381753;
name: Olfactory receptor 6Y1 (Olfactory receptor 6Y2) (Olfactory receptor OR1-11)
length: 325
go: ENSG00000197532;
snps: rs55665765
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9Y3N9
geneSymbol: OR2W1
reactome: R-HSA-381753;
name: Olfactory receptor 2W1 (Hs6M1-15) (Olfactory receptor OR6-13)
length: 320
snps: rs34892006 rs35771565
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q7Z3T1
geneSymbol: OR2W3
reactome: R-HSA-381753;
name: Olfactory receptor 2W3 (Olfactory receptor 2W8) (Olfactory receptor OR1-49)
length: 314
go: ENSG00000238243;
snps: rs189993261 rs12083024 rs10888267 rs12135078 rs12139390 rs11204545 rs11204546
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGA2
geneSymbol: OR7A2P
reactome: R-HSA-381753;
name: Putative olfactory receptor 7A2 (Putative olfactory receptor 7A7)
length: 310
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGV0
geneSymbol: OR2Y1
reactome: R-HSA-381753;
name: Olfactory receptor 2Y1 (Olfactory receptor OR5-2)
length: 311
go: ENSG00000174339;
snps: rs11960429 rs11954074 rs10464105
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGD5
geneSymbol: OR4K14
reactome: R-HSA-381753;
name: Olfactory receptor 4K14 (Olfactory receptor OR14-22)
length: 310
snps: rs7157076 rs17308108
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGC6
geneSymbol: OR4K17
reactome: R-HSA-381753;
name: Olfactory receptor 4K17 (Olfactory receptor OR14-29)
length: 315
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9UGF6
geneSymbol: OR5V1
reactome: R-HSA-381753;
name: Olfactory receptor 5V1 (Hs6M1-21) (Olfactory receptor OR6-26)
length: 321
go: ENSG00000243729;
snps: rs6930033 rs9257770
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N0Y3
geneSymbol: OR4N4
reactome: R-HSA-381753;
name: Olfactory receptor 4N4 (Olfactory receptor OR15-1) (Olfactory receptor OR15-5)
length: 316
snps: rs535034 rs2808136 rs475947 rs3817271
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH05
geneSymbol: OR4Q3
reactome: R-HSA-381753;
name: Olfactory receptor 4Q3 (Olfactory receptor 4Q4) (Olfactory receptor OR14-3)
length: 313
snps: rs17210864 rs12896533
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8N628
geneSymbol: OR2C3
reactome: R-HSA-381753;
length: 320
snps: rs6697472 rs6657127 rs34220133 rs6702693
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 2C3 (Olfactory receptor 2C4) (Olfactory receptor 2C5) (Olfactory receptor OR1-30)

sequence:


uniprotID: Q8NH48
geneSymbol: OR5B3
reactome: R-HSA-381753;
name: Olfactory receptor 5B3 (Olfactory receptor 5B13) (Olfactory receptor OR11-239)
length: 314
snps: rs17152661 rs17152659 rs11229413 rs12280114 rs11229411 rs11229410 rs11229409 rs12279895
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96SN7
geneSymbol: ORAI2
reactome: R-HSA-139853;R-HSA-5578775;R-HSA-983695;
name: Protein orai-2 (CAP-binding protein complex-interacting protein 2) (Transmembrane protein 142B)
length: 254
go: ENSG00000160991;
snps: rs34947403
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
growth cone [GO:0030426]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; store-operated calcium channel activity [GO:0015279]; store-operated calcium entry [GO:0002115]


uniprotID: Q8NGL3
geneSymbol: OR5D14
reactome: R-HSA-381753;
name: Olfactory receptor 5D14 (Olfactory receptor OR11-141) (Olfactory receptor OR11-150)
length: 314
snps: rs297054 rs297055
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9GZM6
geneSymbol: OR8D2
reactome: R-HSA-381753;
name: Olfactory receptor 8D2 (Olfactory receptor OR11-303) (Olfactory receptor-like protein JCG2)
length: 311
snps: rs2512219 rs2466620
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH16
geneSymbol: OR2L2
reactome: R-HSA-381753;
name: Olfactory receptor 2L2 (HTPCRH07) (Olfactory receptor 2L12) (Olfactory receptor 2L4)
length: 312
go: ENSG00000203663;
snps: rs12134979 rs6658141
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0C604
geneSymbol: OR4A8
reactome: R-HSA-381753;
name: Olfactory receptor 4A8 (Olfactory receptor OR11-110)
length: 315
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGM8
geneSymbol: OR6M1
reactome: R-HSA-381753;
name: Olfactory receptor 6M1 (Olfactory receptor OR11-271)
length: 313
snps: rs4936845
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG4
geneSymbol: OR8H1
reactome: R-HSA-381753;
name: Olfactory receptor 8H1 (Olfactory receptor OR11-180)
length: 311
snps: rs11600896 rs17540861
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGP2
geneSymbol: OR8J1
reactome: R-HSA-381753;
name: Olfactory receptor 8J1 (Olfactory receptor OR11-183)
length: 316
snps: rs7927015 rs7942730 rs10896290
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH51
geneSymbol: OR8K3
reactome: R-HSA-381753;
name: Olfactory receptor 8K3 (Olfactory receptor OR11-181)
length: 312
snps: rs960193 rs12291617 rs17150317
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q13415
geneSymbol: ORC1
pdb: 5UJ7;5UJM;
name: Origin recognition complex subunit 1 (Replication control protein 1)
length: 861
go: ENSG00000085840;
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-113507;R-HSA-176187;R-HSA-539107;R-HSA-68616;R-HSA-68689;R-HSA-68827;R-HSA-68867;R-HSA-68949;R-HSA-68962;

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromosome, telomeric region [GO:0000784]; nuclear origin of replication recognition complex [GO:0005664]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; origin recognition complex [GO:0000808]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA replication origin binding [GO:0003688]; metal ion binding [GO:0046872]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]; mitotic cell cycle [GO:0000278]; mitotic DNA replication checkpoint [GO:0033314]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]

snps:
rs3087473 rs387906827 rs143141689 rs387906826 rs3087482 rs3087477 rs3087476 rs3087472 rs3087470 rs3087481 rs3087483 rs201253919 rs387906828 rs34521609 


uniprotID: O43929
geneSymbol: ORC4
reactome: R-HSA-113507;R-HSA-176187;R-HSA-68616;R-HSA-68689;R-HSA-68827;R-HSA-68867;R-HSA-68949;R-HSA-68962;
pdb: 5UJ7;5UJM;
name: Origin recognition complex subunit 4
length: 436
go: ENSG00000115947;
snps: rs2307397 rs2307394 rs387906847
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromosome, telomeric region [GO:0000784]; nuclear origin of replication recognition complex [GO:0005664]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; origin recognition complex [GO:0000808]; ATP binding [GO:0005524]; DNA replication origin binding [GO:0003688]; nucleotide binding [GO:0000166]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43929-1; Sequence=Displayed; Name=2; IsoId=O43929-2; Sequence=VSP_045199; Note=No experimental confirmation available.; Name=3; IsoId=O43929-3; Sequence=VSP_046437; Note=No experimental confirmation available.; 


uniprotID: Q9Y5N6
geneSymbol: ORC6
reactome: R-HSA-113507;R-HSA-176187;R-HSA-68616;R-HSA-68689;R-HSA-68827;R-HSA-68867;R-HSA-68949;R-HSA-68962;
pdb: 3M03;
name: Origin recognition complex subunit 6
length: 252
go: ENSG00000091651;
snps: rs3218744 rs3218745 rs387906969
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
fibrillar center [GO:0001650]; membrane [GO:0016020]; nuclear origin of replication recognition complex [GO:0005664]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; origin recognition complex [GO:0000808]; DNA replication origin binding [GO:0003688]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell division [GO:0051782]


uniprotID: Q9Y3B8
geneSymbol: REXO2
name: Oligoribonuclease, mitochondrial (EC 3.1.-.-) (RNA exonuclease 2 homolog) (Small fragment nuclease)
length: 237
go: ENSG00000076043;
sequence:

opentargets:
focal adhesion [GO:0005925]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; 3'-5' exonuclease activity [GO:0008408]; 3'-5'-exoribonuclease activity [GO:0000175]; nucleic acid binding [GO:0003676]; nucleobase-containing compound metabolic process [GO:0006139]; nucleotide metabolic process [GO:0009117]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=1; Synonyms=Sfn-alpha; IsoId=Q9Y3B8-1; Sequence=Displayed; Name=2; IsoId=Q9Y3B8-2; Sequence=VSP_003775; Name=3; IsoId=Q9Y3B8-3; Sequence=VSP_054954; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion intermembrane space. Mitochondrion matrix.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.


uniprotID: Q9NX31
geneSymbol: OSER1
length: 292
go: ENSG00000132823;
snps: rs9346
name:
Oxidative stress-responsive serine-rich protein 1 (Oxidative stress-responsive protein 1) (Peroxide-inducible transcript 1 protein)

sequence:


uniprotID: Q7RTM1
geneSymbol: OTOP1
name: Proton channel OTOP1 (Otopetrin-1) (hOtop1)
length: 612
go: ENSG00000163982;
snps: rs28394859 rs2916414 rs11736799 rs34666677 rs35106142
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; proton channel activity [GO:0015252]; biomineral tissue development [GO:0031214]; cellular response to insulin stimulus [GO:0032869]; detection of gravity [GO:0009590]; inner ear morphogenesis [GO:0042472]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; proton transmembrane transport [GO:1902600]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80VM9}; Multi-pass membrane protein {ECO:0000255}. Note=Detected in the gelatinous membrane overlying the inner ear macular epithelium. {ECO:0000250|UniProtKB:Q80VM9}.


uniprotID: Q6GQQ9
geneSymbol: OTUD7B
reactome: R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5689896;
pdb: 5LRU;5LRV;5LRW;
length: 843
go: ENSG00000264522;
name:
OTU domain-containing protein 7B (EC 3.4.19.12) (Cellular zinc finger anti-NF-kappa-B protein) (Cezanne) (Zinc finger A20 domain-containing protein 1) (Zinc finger protein Cezanne)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; cysteine-type peptidase activity [GO:0008234]; DNA binding [GO:0003677]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; Lys48-specific deubiquitinase activity [GO:1990380]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; adaptive immune response [GO:0002250]; mucosal immune response [GO:0002385]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interleukin-8 production [GO:0032717]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein deubiquitination [GO:0016579]; protein deubiquitination involved in ubiquitin-dependent protein catabolic process [GO:0071947]; protein K11-linked deubiquitination [GO:0035871]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6GQQ9-1; Sequence=Displayed; Name=2; IsoId=Q6GQQ9-2; Sequence=VSP_046015; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11463333, ECO:0000269|PubMed:21888622}. Nucleus {ECO:0000269|PubMed:21888622}. Note=Shuttles be cytoplasm and the nucleus in a XPO1/CRM1-dependent manner. {ECO:0000269|PubMed:21888622}.


uniprotID: P61366
geneSymbol: OSTN
name: Osteocrin (Musclin) [Cleaved into: Processed Osteocrin]
length: 133
go: ENSG00000188729;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14523025}.
sequence:
MLDWRLASAHFILAVTLTLWSSGKVLSVDVTTTEAFDSGVIDVQSTPTVREEKSATDLTAKLLLLDELVSLENDVIETKKKRSFSGFGSPLDRLSAGSVDHKGKQRKVVDHPKRRFGIPMDRIGRNRLSNSRG

opentargets:
extracellular space [GO:0005615]; hormone activity [GO:0005179]; cell surface receptor signaling pathway [GO:0007166]; endochondral bone growth [GO:0003416]; hormone-mediated signaling pathway [GO:0009755]; negative regulation of dendrite extension [GO:1903860]; negative regulation of glucose import [GO:0046325]; negative regulation of osteoblast differentiation [GO:0045668]


uniprotID: Q3ZCN5
geneSymbol: OTOGL
name: Otogelin-like protein
length: 2332
snps: rs768182016
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; alpha-L-arabinofuranosidase activity [GO:0046556]; L-arabinose metabolic process [GO:0046373]; sensory perception of sound [GO:0007605]


uniprotID: P30559
geneSymbol: OXTR
reactome: R-HSA-388479;R-HSA-416476;
name: Oxytocin receptor (OT-R)
length: 389
go: ENSG00000180914;
drug: DB01282;DB00107;
snps: rs237906 rs4686302
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell-cell adherens junction [GO:0005913]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; oxytocin receptor activity [GO:0004990]; peptide hormone binding [GO:0017046]; vasopressin receptor activity [GO:0005000]; cell surface receptor signaling pathway [GO:0007166]; cellular response to hormone stimulus [GO:0032870]; digestive tract development [GO:0048565]; eating behavior [GO:0042755]; ERK1 and ERK2 cascade [GO:0070371]; estrous cycle [GO:0044849]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; heart development [GO:0007507]; lactation [GO:0007595]; maternal behavior [GO:0042711]; maternal process involved in parturition [GO:0060137]; memory [GO:0007613]; muscle contraction [GO:0006936]; negative regulation of gastric acid secretion [GO:0060455]; positive regulation of blood pressure [GO:0045777]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of norepinephrine secretion [GO:0010701]; positive regulation of penile erection [GO:0060406]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of uterine smooth muscle contraction [GO:0070474]; positive regulation of vasoconstriction [GO:0045907]; regulation of systemic arterial blood pressure by vasopressin [GO:0001992]; response to amphetamine [GO:0001975]; response to anoxia [GO:0034059]; response to cocaine [GO:0042220]; response to cytokine [GO:0034097]; response to estradiol [GO:0032355]; response to peptide hormone [GO:0043434]; response to progesterone [GO:0032570]; sleep [GO:0030431]; social behavior [GO:0035176]; sperm ejaculation [GO:0042713]; suckling behavior [GO:0001967]; telencephalon development [GO:0021537]


uniprotID: Q8IYS5
geneSymbol: OSCAR
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 5CJ8;5CJB;5EIQ;5EIV;
length: 282
snps: rs1657535 rs8106130
name:
Osteoclast-associated immunoglobulin-like receptor (Osteoclast-associated receptor) (hOSCAR) (Polymeric immunoglobulin receptor 3) (PIgR-3) (PIgR3) (Poly-Ig receptor 3)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; collagen receptor activity [GO:0038064]; neutrophil degranulation [GO:0043312]; osteoclast differentiation [GO:0030316]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=OSCAR-S1; IsoId=Q8IYS5-1; Sequence=Displayed; Name=2; Synonyms=OSCAR-M1; IsoId=Q8IYS5-2; Sequence=VSP_029355; Name=3; Synonyms=OSCAR-M2; IsoId=Q8IYS5-3; Sequence=VSP_029353, VSP_029355; Name=4; Synonyms=OSCAR-S2; IsoId=Q8IYS5-4; Sequence=VSP_029352; Name=5; IsoId=Q8IYS5-5; Sequence=VSP_029354; Note=No experimental confirmation available.; Name=7; IsoId=Q8IYS5-7; Sequence=VSP_029353; Note=No experimental confirmation available.; Name=6; Synonyms=OSCAR-M3; IsoId=Q8IYS5-6; Sequence=VSP_029352, VSP_029355; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q32P28
geneSymbol: P3H1
reactome: R-HSA-1650814;
length: 736
go: ENSG00000117385;
drug: DB00172;DB00139;DB00126;
snps: rs6700677 rs3738501 rs11581921 rs3738497
name:
Prolyl 3-hydroxylase 1 (EC 1.14.11.7) (Growth suppressor 1) (Leucine- and proline-enriched proteoglycan 1) (Leprecan-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; procollagen-proline 3-dioxygenase activity [GO:0019797]; protein-containing complex binding [GO:0044877]; bone development [GO:0060348]; chaperone-mediated protein folding [GO:0061077]; collagen metabolic process [GO:0032963]; negative regulation of cell proliferation [GO:0008285]; negative regulation of post-translational protein modification [GO:1901874]; positive regulation of neuron projection development [GO:0010976]; protein folding [GO:0006457]; protein hydroxylation [GO:0018126]; protein stabilization [GO:0050821]; regulation of protein secretion [GO:0050708]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GROS1-L, LEPREa, P3H1a; IsoId=Q32P28-1; Sequence=Displayed; Name=2; Synonyms=GROS1-S; IsoId=Q32P28-2; Sequence=VSP_019346, VSP_019347; Name=3; Synonyms=LEPREc; IsoId=Q32P28-3; Sequence=VSP_019348; Note=No experimental confirmation available.; Name=4; Synonyms=LEPREb, P3H1b; IsoId=Q32P28-4; Sequence=VSP_054864; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum.; SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). {ECO:0000269|PubMed:19088120}.


uniprotID: Q15077
geneSymbol: P2RY6
reactome: R-HSA-416476;R-HSA-417957;
pdb: 2B6R;
name: P2Y purinoceptor 6 (P2Y6)
length: 328
go: ENSG00000171631;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; ADP receptor activity [GO:0001621]; G protein-coupled receptor activity [GO:0004930]; UDP-activated nucleotide receptor activity [GO:0045029]; UTP-activated nucleotide receptor activity [GO:0045030]; activation of phospholipase C activity [GO:0007202]; cellular response to prostaglandin E stimulus [GO:0071380]; cellular response to purine-containing compound [GO:0071415]; cellular response to pyrimidine ribonucleotide [GO:1905835]; G protein-coupled receptor signaling pathway [GO:0007186]; phagocytosis [GO:0006909]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0031587]; positive regulation of inositol trisphosphate biosynthetic process [GO:0032962]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; transepithelial chloride transport [GO:0030321]


uniprotID: Q96FE7
geneSymbol: PIK3IP1
name: Phosphoinositide-3-kinase-interacting protein 1 (Kringle domain-containing protein HGFL)
length: 263
go: ENSG00000100100;
snps: rs2040533
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; phosphatidylinositol 3-kinase catalytic subunit binding [GO:0036313]; negative regulation of phosphatidylinositol 3-kinase activity [GO:0043553]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=HGFL(L); IsoId=Q96FE7-1; Sequence=Displayed; Name=2; Synonyms=HGFL(S); IsoId=Q96FE7-2; Sequence=VSP_023639, VSP_023640; Name=3; IsoId=Q96FE7-3; Sequence=VSP_023638; Note=No experimental confirmation available.; Name=4; IsoId=Q96FE7-4; Sequence=VSP_043368; Note=No experimental confirmation available.; Name=5; Synonyms=PIK3IP1-v1; IsoId=Q96FE7-5; Sequence=VSP_053370; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19088825}; Single-pass type I membrane protein {ECO:0000269|PubMed:19088825}.


uniprotID: P0DJ07
geneSymbol: PET100
name: Protein PET100 homolog, mitochondrial
sequence: MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPPEKLQEIEEFKERLRKRREEKLLRDAQQNS
length: 73
go: ENSG00000229833;
opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; unfolded protein binding [GO:0051082]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Mitochondrion {ECO:0000250}. Note=Localizes to a membrane-bound organelle. {ECO:0000269|PubMed:22356826}.


uniprotID: Q3SYG4
geneSymbol: BBS9
reactome: R-HSA-5620922;
pdb: 4YD8;
name: Protein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene protein)
length: 887
go: ENSG00000122507;
snps: rs4498440 rs137852857 rs11773504 rs11773504 rs34218557 rs59252892 rs116262072 rs142434516
sequence:

opentargets:
BBSome [GO:0034464]; centriolar satellite [GO:0034451]; ciliary membrane [GO:0060170]; ciliary transition zone [GO:0035869]; cilium [GO:0005929]; cytosol [GO:0005829]; membrane [GO:0016020]; pericentriolar material [GO:0000242]; cilium assembly [GO:0060271]; fat cell differentiation [GO:0045444]; protein localization to cilium [GO:0061512]; protein transport [GO:0015031]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q3SYG4-1; Sequence=Displayed; Name=2; IsoId=Q3SYG4-2; Sequence=VSP_018426; Name=3; IsoId=Q3SYG4-3; Sequence=VSP_018428; Name=4; IsoId=Q3SYG4-4; Sequence=VSP_018427; Name=5; IsoId=Q3SYG4-5; Sequence=VSP_018421, VSP_018422, VSP_018423; Note=No experimental confirmation available.; Name=6; IsoId=Q3SYG4-6; Sequence=VSP_018424, VSP_018425; Name=7; IsoId=Q3SYG4-7; Sequence=VSP_054063; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.


uniprotID: Q96NR3
geneSymbol: PTCHD1
name: Patched domain-containing protein 1
length: 888
go: ENSG00000165186;
snps: rs373105249 rs371935424 rs147324438 rs769407241 rs35880456
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cognition [GO:0050890]; smoothened signaling pathway [GO:0007224]; social behavior [GO:0035176]; thalamus development [GO:0021794]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NR3-1; Sequence=Displayed; Name=2; IsoId=Q96NR3-2; Sequence=VSP_023511; Name=3; IsoId=Q96NR3-3; Sequence=VSP_023511, VSP_023512, VSP_023513; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20844286}; Multi-pass membrane protein {ECO:0000269|PubMed:20844286}.


uniprotID: Q96EY7
geneSymbol: PTCD3
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 689
go: ENSG00000132300;
snps: rs13393659 rs2241433
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19427859, ECO:0000269|PubMed:23908630}.
name:
Pentatricopeptide repeat domain-containing protein 3, mitochondrial (28S ribosomal protein S39, mitochondrial) (MRP-S39) (Mitochondrial small ribosomal subunit protein mS39) (Transformation-related gene 15 protein) (TRG-15)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ribosome [GO:0005840]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; mitochondrial translation [GO:0032543]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96EY7-1; Sequence=Displayed; Name=2; IsoId=Q96EY7-2; Sequence=VSP_028191, VSP_028192; Note=No experimental confirmation available.; 


