# annotation

uniprotID: Q8N271
geneSymbol: PROM2
name: Prominin-2 (PROM-2) (Prominin-like protein 2) (hPROML2)
length: 834
go: ENSG00000155066;
snps: rs12992066
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell projection [GO:0042995]; cell surface [GO:0009986]; ciliary membrane [GO:0060170]; cilium [GO:0005929]; cytoplasmic vesicle [GO:0031410]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; microspike [GO:0044393]; microvillus [GO:0005902]; microvillus membrane [GO:0031528]; prominosome [GO:0071914]; cholesterol binding [GO:0015485]; negative regulation of caveolin-mediated endocytosis [GO:2001287]; negative regulation of pinocytosis [GO:0048550]; positive regulation of cell projection organization [GO:0031346]; positive regulation of protein phosphorylation [GO:0001934]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N271-1; Sequence=Displayed; Name=2; IsoId=Q8N271-2; Sequence=VSP_033149; Name=3; IsoId=Q8N271-3; Sequence=VSP_033148; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, microvillus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Colocalizes with PROM1. Associates with membrane in a cholesterol-dependent manner. Localizes to the apical and basolateral membranes of epithelial cells (By similarity). {ECO:0000250}.


uniprotID: Q9UL42
geneSymbol: PNMA2
length: 364
go: ENSG00000240694;
opentargets: nucleolus [GO:0005730]; positive regulation of apoptotic process [GO:0043065]
snps: rs2233701
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10050892}.
name:
Paraneoplastic antigen Ma2 (40 kDa neuronal protein) (Onconeuronal antigen Ma2) (Paraneoplastic neuronal antigen MM2)

sequence:


uniprotID: A0JP26
geneSymbol: POTEB3
name: POTE ankyrin domain family member B3
length: 581
snps: rs200845208 rs2605913 rs2458862 rs2445603 rs1949282 rs1828869 rs1828868
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A0JP26-1; Sequence=Displayed; Name=2; IsoId=A0JP26-2; Sequence=VSP_059381, VSP_059382; Name=3; IsoId=A0JP26-3; Sequence=VSP_059380; 


uniprotID: P10619
geneSymbol: CTSA
reactome: R-HSA-1660662;R-HSA-2132295;R-HSA-4085001;R-HSA-6798695;
pdb: 1IVY;3BP4;3BP7;3BXN;4AZ0;4AZ3;4CI9;4CIA;4CIB;4MWS;4MWT;
length: 480
go: ENSG00000064601;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Lysosomal protective protein (EC 3.4.16.5) (Carboxypeptidase C) (Carboxypeptidase L) (Cathepsin A) (Protective protein cathepsin A) (PPCA) (Protective protein for beta-galactosidase) [Cleaved into: Lysosomal protective protein 32 kDa chain; Lysosomal protective protein 20 kDa chain]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; carboxypeptidase activity [GO:0004180]; enzyme activator activity [GO:0008047]; exo-alpha-sialidase activity [GO:0004308]; serine-type carboxypeptidase activity [GO:0004185]; glycosphingolipid metabolic process [GO:0006687]; intracellular protein transport [GO:0006886]; negative regulation of chaperone-mediated autophagy [GO:1904715]; neutrophil degranulation [GO:0043312]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of chaperone-mediated autophagy [GO:1904714]; regulation of protein stability [GO:0031647]

snps:
rs137854541 rs28934603 rs137854542 rs137854545 rs137854546 rs137854544 rs137854543 rs137854548 rs137854547 rs137854540 rs137854549 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10619-1; Sequence=Displayed; Name=2; IsoId=P10619-2; Sequence=VSP_054832; Note=Gene prediction based on EST data.; 


uniprotID: Q86YN6
geneSymbol: PPARGC1B
reactome: R-HSA-1989781;R-HSA-2151201;R-HSA-8939902;
pdb: 3SP6;6D0Y;
length: 1023
go: ENSG00000155846;
snps: rs7732671 rs45520937 rs17572019 rs11959820
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11854298}.
name:
Peroxisome proliferator-activated receptor gamma coactivator 1-beta (PGC-1-beta) (PPAR-gamma coactivator 1-beta) (PPARGC-1-beta) (PGC-1-related estrogen receptor alpha coactivator)

sequence:

opentargets:
mediator complex [GO:0016592]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; AF-2 domain binding [GO:0050682]; estrogen receptor binding [GO:0030331]; nuclear receptor transcription coactivator activity [GO:0030374]; RNA binding [GO:0003723]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; actin filament organization [GO:0007015]; bone trabecula formation [GO:0060346]; cellular response to reactive oxygen species [GO:0034614]; intracellular estrogen receptor signaling pathway [GO:0030520]; mitochondrial transcription [GO:0006390]; negative regulation of transcription, DNA-templated [GO:0045892]; ossification [GO:0001503]; positive regulation of alkaline phosphatase activity [GO:0010694]; positive regulation of bone resorption [GO:0045780]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of phosphorylation [GO:0042327]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; response to cAMP [GO:0051591]; response to glucocorticoid [GO:0051384]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=PGC1beta-1a; IsoId=Q86YN6-1; Sequence=Displayed; Name=2; Synonyms=PGC1beta-2a; IsoId=Q86YN6-2; Sequence=VSP_019299; Name=3; Synonyms=PGC1beta-1b; IsoId=Q86YN6-3; Sequence=VSP_019301; Name=4; Synonyms=PGC1beta-2b; IsoId=Q86YN6-4; Sequence=VSP_019299, VSP_019301; Name=5; Synonyms=PERC-s; IsoId=Q86YN6-5; Sequence=VSP_019300; Note=Lacks LXXLL motif 1 and has a reduced ability to enhance the hormone-dependent activity of estrogen receptor alpha.; Name=6; IsoId=Q86YN6-6; Sequence=VSP_043374, VSP_019300; Note=No experimental confirmation available.; 


uniprotID: Q9Y255
geneSymbol: PRELID1
reactome: R-HSA-6803204;
length: 219
go: ENSG00000169230;
name:
PRELI domain-containing protein 1, mitochondrial (25 kDa protein of relevant evolutionary and lymphoid interest) (Px19-like protein)

sequence:

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; phosphatidic acid transporter activity [GO:1990050]; apoptotic process [GO:0006915]; immune response [GO:0006955]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mitochondrial membrane potential [GO:0010917]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; phospholipid transport [GO:0015914]; positive regulation of cellular respiration [GO:1901857]; positive regulation of endopeptidase activity [GO:0010950]; positive regulation of phospholipid transport [GO:2001140]; positive regulation of T cell apoptotic process [GO:0070234]; regulation of apoptotic process [GO:0042981]; regulation of membrane lipid distribution [GO:0097035]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of T cell differentiation [GO:0045580]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y255-1; Sequence=Displayed; Name=2; IsoId=Q9Y255-2; Sequence=VSP_054731; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion intermembrane space {ECO:0000269|PubMed:14640972, ECO:0000269|PubMed:18945965, ECO:0000269|PubMed:21364629, ECO:0000269|PubMed:23931759}.


uniprotID: P58294
geneSymbol: PROK1
reactome: R-HSA-375276;R-HSA-416476;
name: Prokineticin-1 (Endocrine-gland-derived vascular endothelial growth factor) (EG-VEGF) (Mambakine)
length: 105
go: ENSG00000143125;
snps: rs7514102
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRGATRVSIMLLLVTVSDCAVITGACERDVQCGAGTCCAISLWLRGLRMCTPLGREGEECHPGSHKVPFFRKRKHHTCPCLPNLLCSRFPDGRYRCSMDLKNINF

opentargets:
extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; growth factor activity [GO:0008083]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; regulation of angiogenesis [GO:0045765]


uniprotID: Q92620
geneSymbol: DHX38
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;
pdb: 5YZG;
length: 1227
go: ENSG00000140829;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (EC 3.6.4.13) (ATP-dependent RNA helicase DHX38) (DEAH box protein 38)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92620-1; Sequence=Displayed; Name=2; IsoId=Q92620-2; Sequence=VSP_056045; Note=No experimental confirmation available.; 


uniprotID: P63135
geneSymbol: ERVK-7
length: 1459
name:
Endogenous retrovirus group K member 7 Pol protein (HERV-K(III) Pol protein) (HERV-K102 Pol protein) (HERV-K_1q22 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:

opentargets:
DNA binding [GO:0003677]; RNA-directed DNA polymerase activity [GO:0003964]; RNA-DNA hybrid ribonuclease activity [GO:0004523]; structural molecule activity [GO:0005198]; zinc ion binding [GO:0008270]; DNA integration [GO:0015074]; DNA recombination [GO:0006310]


uniprotID: P49335
geneSymbol: POU3F4
length: 361
snps: rs5921979
location: SUBCELLULAR LOCATION: Nucleus.
name:
POU domain, class 3, transcription factor 4 (Brain-specific homeobox/POU domain protein 4) (Brain-4) (Brn-4) (Octamer-binding protein 9) (Oct-9) (Octamer-binding transcription factor 9) (OTF-9)

sequence:

opentargets:
nucleus [GO:0005634]; AT DNA binding [GO:0003680]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cochlea morphogenesis [GO:0090103]; forebrain neuron differentiation [GO:0021879]; negative regulation of mesenchymal cell apoptotic process [GO:2001054]; sensory perception of sound [GO:0007605]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q6S545
geneSymbol: POTEH
length: 545
go: ENSG00000198062;
name:
POTE ankyrin domain family member H (ANKRD26-like family C member 3) (Prostate, ovary, testis-expressed protein on chromosome 22) (POTE-22)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6S545-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6S545-2; Sequence=VSP_039738; Note=No experimental confirmation available.; 


uniprotID: Q6PEZ8
geneSymbol: PODNL1
name: Podocan-like protein 1
length: 512
go: ENSG00000132000;
opentargets: collagen-containing extracellular matrix [GO:0062023]
snps: rs3745467
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PEZ8-1; Sequence=Displayed; Name=2; IsoId=Q6PEZ8-2; Sequence=VSP_043973, VSP_043974; Name=3; IsoId=Q6PEZ8-3; Sequence=VSP_043973; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q6P3Y9}.


uniprotID: Q9UHV8
geneSymbol: LGALS13
pdb: 1F87;5XG7;5XG8;5Y03;
length: 139
go: ENSG00000105198;
name:
Galactoside-binding soluble lectin 13 (Galectin-13) (Gal-13) (Placental tissue protein 13) (PP13) (Placental protein 13)

sequence:
MSSLPVPYKLPVSLSVGSCVIIKGTPIHSFINDPQLQVDFYTDMDEDSDIAFRFRVHFGNHVVMNRREFGIWMLEETTDYVPFEDGKQFELCIYVHYNEYEIKVNGIRIYGFVHRIPPSFVKMVQVSRDISLTSVCVCN

opentargets:
cytoplasm [GO:0005737]; nuclear matrix [GO:0016363]; carbohydrate binding [GO:0030246]; lysophospholipase activity [GO:0004622]; apoptotic process [GO:0006915]; phospholipid metabolic process [GO:0006644]; positive regulation of T cell apoptotic process [GO:0070234]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29343868}. Nucleus matrix {ECO:0000269|PubMed:29343868}.


uniprotID: P26678
geneSymbol: PLN
reactome: R-HSA-5578775;R-HSA-936837;
pdb: 1K9N;1KCH;1PLN;1PLP;1PSL;1ZLL;2HYN;
name: Cardiac phospholamban (PLB)
sequence: MEKVQYLTRSAIRRASTIEMPQQARQKLQNLFINFCLILICLLLICIIVMLL
length: 52
go: ENSG00000198523;
snps: rs111033559 rs754782171
opentargets:
calcium ion-transporting ATPase complex [GO:0090534]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; sarcoplasmic reticulum membrane [GO:0033017]; vesicle [GO:0031982]; ATPase binding [GO:0051117]; ATPase inhibitor activity [GO:0042030]; calcium channel regulator activity [GO:0005246]; enzyme inhibitor activity [GO:0004857]; identical protein binding [GO:0042802]; adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process [GO:0086023]; blood circulation [GO:0008015]; calcium ion transport [GO:0006816]; cardiac muscle tissue development [GO:0048738]; negative regulation of ATPase activity [GO:0032780]; negative regulation of calcium ion binding [GO:1901877]; negative regulation of calcium ion import [GO:0090281]; negative regulation of calcium ion import into sarcoplasmic reticulum [GO:1902081]; negative regulation of calcium ion transmembrane transporter activity [GO:1901020]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of calcium-transporting ATPase activity [GO:1901895]; negative regulation of catalytic activity [GO:0043086]; negative regulation of heart rate [GO:0010459]; Notch signaling pathway [GO:0007219]; protein homooligomerization [GO:0051260]; regulation of calcium ion transport [GO:0051924]; regulation of calcium-transporting ATPase activity [GO:1901894]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of cardiac muscle cell membrane potential [GO:0086036]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of heart contraction [GO:0008016]; regulation of relaxation of cardiac muscle [GO:1901897]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of the force of heart contraction [GO:0002026]; regulation of the force of heart contraction by cardiac conduction [GO:0086092]; relaxation of cardiac muscle [GO:0055119]; response to insulin [GO:0032868]; response to testosterone [GO:0033574]; response to zinc ion [GO:0010043]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17241641}; Single-pass membrane protein {ECO:0000255}. Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:22427649}; Single-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000250|UniProtKB:A4IFH6}; Single-pass membrane protein {ECO:0000255}. Membrane {ECO:0000250|UniProtKB:P61014}; Single-pass membrane protein {ECO:0000255}. Note=Colocalizes with HAX1 at the endoplasmic reticulum (PubMed:17241641). Colocalizes with DMPK a the sarcoplasmic reticulum (PubMed:15598648). {ECO:0000269|PubMed:15598648, ECO:0000269|PubMed:17241641}.


uniprotID: P50336
geneSymbol: PPOX
reactome: R-HSA-189451;
pdb: 3NKS;4IVM;4IVO;
name: Protoporphyrinogen oxidase (PPO) (EC 1.3.3.4)
length: 477
go: ENSG00000143224;
sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; intrinsic component of mitochondrial inner membrane [GO:0031304]; mitochondrial intermembrane space [GO:0005758]; mitochondrial membrane [GO:0031966]; flavin adenine dinucleotide binding [GO:0050660]; oxygen-dependent protoporphyrinogen oxidase activity [GO:0004729]; heme biosynthetic process [GO:0006783]; oxidation-reduction process [GO:0055114]; porphyrin-containing compound biosynthetic process [GO:0006779]; protoporphyrinogen IX biosynthetic process [GO:0006782]; response to drug [GO:0042493]

snps:
rs28936677 rs769452432 rs121918326 rs1317835140 rs764352037 rs121918324 rs767419411 rs369381477 rs121918325 rs41270025 rs757473753 rs751599052 rs121918323 rs12735723 rs36013429 rs900431442 rs28936676 rs374936130 rs141274934 rs776530007 rs928944841 

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


uniprotID: O75688
geneSymbol: PPM1B
reactome: R-HSA-1169408;
pdb: 2P8E;
name: Protein phosphatase 1B (EC 3.1.3.16) (Protein phosphatase 2C isoform beta) (PP2C-beta)
length: 479
go: ENSG00000138032;
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein serine/threonine phosphatase activity [GO:0004722]; N-terminal protein myristoylation [GO:0006499]; negative regulation of defense response to virus [GO:0050687]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; peptidyl-threonine dephosphorylation [GO:0035970]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=Beta-1; Synonyms=Beta-X, PPM1B2; IsoId=O75688-1; Sequence=Displayed; Name=Beta-2; Synonyms=PPM1B1; IsoId=O75688-2; Sequence=VSP_005087, VSP_005088; Name=Beta-X; IsoId=O75688-3; Sequence=VSP_041085; Name=4; IsoId=O75688-4; Sequence=VSP_043643, VSP_043644, VSP_005088; Name=5; IsoId=O75688-5; Sequence=VSP_043641, VSP_043642, VSP_043644, VSP_005088; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22781750}. Membrane {ECO:0000250|UniProtKB:P36993}; Lipid-anchor {ECO:0000250|UniProtKB:P36993}. Note=Weakly associates at the membrane and N-myristoylation mediates the membrane localization. {ECO:0000250|UniProtKB:P36993}.


uniprotID: Q6UWY2
geneSymbol: PRSS57
pdb: 4Q7X;4Q7Y;4Q7Z;4Q80;
length: 283
go: ENSG00000185198;
snps: rs8102982
name:
Serine protease 57 (EC 3.4.21.-) (Neutrophil serine protease 4) (NSP4) (Serine protease 1-like protein 1)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular space [GO:0005615]; heparin binding [GO:0008201]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Cytoplasmic granule lumen {ECO:0000269|PubMed:22474388, ECO:0000269|PubMed:23904161}. Secreted {ECO:0000269|PubMed:22474388, ECO:0000269|PubMed:23904161}. Note=Stored in cytoplasmic granules and secreted as active enzyme in response to stimulation of neutrophils. {ECO:0000269|PubMed:22474388}.


uniprotID: Q5K4E3
geneSymbol: PRSS36
name: Polyserase-2 (EC 3.4.21.-) (Polyserine protease 2) (Serine protease 36)
length: 855
go: ENSG00000178226;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5K4E3-1; Sequence=Displayed; Name=2; IsoId=Q5K4E3-2; Sequence=VSP_044718; Note=No experimental confirmation available.; Name=3; IsoId=Q5K4E3-3; Sequence=VSP_046639; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:15536082}. Note=Not attached to membranes.


uniprotID: Q13519
geneSymbol: PNOC
reactome: R-HSA-375276;R-HSA-418594;
name: Prepronociceptin [Cleaved into: Nocistatin; Nociceptin (Orphanin FQ) (PPNOC); Orphanin FQ2]
length: 176
go: ENSG00000168081;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKVLLCDLLLLSLFSSVFSSCQRDCLTCQEKLHPALDSFDLEVCILECEEKVFPSPLWTPCTKVMARSSWQLSPAAPEHVAAALYQPRASEMQHLRRMPRVRSLFQEQEEPEPGMEEAGEMEQKQLQKRFGGFTGARKSARKLANQKRFSEFMRQYLVLSMQSSQRRRTLHQNGNV

opentargets:
axon terminus [GO:0043679]; dendrite [GO:0030425]; extracellular region [GO:0005576]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; neuropeptide hormone activity [GO:0005184]; opioid peptide activity [GO:0001515]; chemical synaptic transmission [GO:0007268]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; sensory perception [GO:0007600]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13519-1; Sequence=Displayed; Name=2; IsoId=Q13519-2; Sequence=VSP_055146; Note=No experimental confirmation available.; 


uniprotID: Q9Y6A1
geneSymbol: POMT1
reactome: R-HSA-5083633;R-HSA-5173105;
length: 747
go: ENSG00000130714;
name:
Protein O-mannosyl-transferase 1 (EC 2.4.1.109) (Dolichyl-phosphate-mannose--protein mannosyltransferase 1)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; sarcoplasmic reticulum [GO:0016529]; dolichyl-phosphate-mannose-protein mannosyltransferase activity [GO:0004169]; mannosyltransferase activity [GO:0000030]; metal ion binding [GO:0046872]; carbohydrate metabolic process [GO:0005975]; extracellular matrix organization [GO:0030198]; multicellular organism development [GO:0007275]; positive regulation of protein O-linked glycosylation [GO:1904100]; protein O-linked glycosylation [GO:0006493]

snps:
rs119462983 rs28941782 rs1289335417 rs119462982 rs2296949 rs386738991 rs201073763 rs4740164 rs11243406 rs117985576 rs150367385 rs119462984 rs119462986 rs119462987 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9Y6A1-1; Sequence=Displayed; Name=2; IsoId=Q9Y6A1-2; Sequence=VSP_007591; Name=3; IsoId=Q9Y6A1-3; Sequence=VSP_007590, VSP_007591; Name=4; IsoId=Q9Y6A1-4; Sequence=VSP_041024, VSP_007591; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14699049}; Multi-pass membrane protein {ECO:0000269|PubMed:14699049}.


uniprotID: O75817
geneSymbol: POP7
reactome: R-HSA-6784531;
pdb: 6CWX;
length: 140
go: ENSG00000172336;
name:
Ribonuclease P protein subunit p20 (RNaseP protein p20) (EC 3.1.26.5) (Ribonucleases P/MRP protein subunit POP7 homolog) (hPOP7)

sequence:
MAENREPRGAVEAELDPVEYTLRKRLPSRLPRRPNDIYVNMKTDFKAQLARCQKLLDGGARGQNACSEIYIHGLGLAINRAINIALQLQAGSFGSLQVAANTSTVELVDELEPETDTREPLTRIRNNSAIHIRVFRVTPK

opentargets:
cytoplasm [GO:0005737]; multimeric ribonuclease P complex [GO:0030681]; nucleolar ribonuclease P complex [GO:0005655]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonuclease MRP complex [GO:0000172]; ribonuclease P activity [GO:0004526]; RNA binding [GO:0003723]; tRNA 5'-leader removal [GO:0001682]; tRNA processing [GO:0008033]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:14715275}. Cytoplasm {ECO:0000269|PubMed:14715275}. Cytoplasmic granule {ECO:0000269|PubMed:14715275}. Note=Under stress conditions colocalizes with SMN1 in punctuated cytoplasmic granules.


uniprotID: P0CG38
geneSymbol: POTEI
name: POTE ankyrin domain family member I
length: 1075
go: ENSG00000196834;
sequence:

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


uniprotID: Q8IXY8
geneSymbol: PPIL6
reactome: R-HSA-72163;
length: 311
go: ENSG00000185250;
snps: rs9398200
name:
Probable inactive peptidyl-prolyl cis-trans isomerase-like 6 (PPIase) (Cyclophilin-like protein PPIL6) (Rotamase PPIL6)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; unfolded protein binding [GO:0051082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IXY8-1; Sequence=Displayed; Name=2; IsoId=Q8IXY8-2; Sequence=VSP_043036; Note=No experimental confirmation available.; Name=3; IsoId=Q8IXY8-3; Sequence=VSP_055658; Note=No experimental confirmation available. Gene prediction based on partial EST data.; 


uniprotID: O43447
geneSymbol: PPIH
reactome: R-HSA-72163;
pdb: 1MZW;1QOI;5O9Z;
length: 177
go: ENSG00000171960;
drug: DB00172;
name:
Peptidyl-prolyl cis-trans isomerase H (PPIase H) (EC 5.2.1.8) (Rotamase H) (Small nuclear ribonucleoprotein particle-specific cyclophilin H) (CypH) (U-snRNP-associated cyclophilin SnuCyp-20) (USA-CYP)

sequence:
MAVANSSPVNPVVFFDVSIGGQEVGRMKIELFADVVPKTAENFRQFCTGEFRKDGVPIGYKGSTFHRVIKDFMIQGGDFVNGDGTGVASIYRGPFADENFKLRHSAPGLLSMANSGPSTNGCQFFITCSKCDWLDGKHVVFGKIIDGLLVMRKIENVPTGPNNKPKLPVVISQCGEM

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U4/U6 snRNP [GO:0071001]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; ribonucleoprotein complex binding [GO:0043021]; unfolded protein binding [GO:0051082]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43447-1; Sequence=Displayed; Name=2; IsoId=O43447-2; Sequence=VSP_056587; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:9570313}. Cytoplasm {ECO:0000269|PubMed:9570313}. Note=Colocalizes with spliceosomal snRNPs. A small proportion may also be cytoplasmic.


uniprotID: O15297
geneSymbol: PPM1D
reactome: R-HSA-8878166;
length: 605
go: ENSG00000170836;
snps: rs17855093
name:
Protein phosphatase 1D (EC 3.1.3.16) (Protein phosphatase 2C isoform delta) (PP2C-delta) (Protein phosphatase magnesium-dependent 1 delta) (p53-induced protein phosphatase 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; mitogen-activated protein kinase binding [GO:0051019]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine phosphatase activity [GO:0004722]; cellular response to starvation [GO:0009267]; chromatin silencing [GO:0006342]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA methylation [GO:0006306]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression, epigenetic [GO:0045814]; peptidyl-threonine dephosphorylation [GO:0035970]; protein dephosphorylation [GO:0006470]; response to bacterium [GO:0009617]; response to radiation [GO:0009314]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15297-1; Sequence=Displayed; Name=2; IsoId=O15297-2; Sequence=VSP_056377, VSP_056378; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28343630, ECO:0000269|PubMed:9177166}. Cytoplasm, cytosol {ECO:0000269|PubMed:28343630}.


uniprotID: Q6ZMI0
geneSymbol: PPP1R21
length: 780
go: ENSG00000162869;
opentargets: membrane [GO:0016020]
name:
Protein phosphatase 1 regulatory subunit 21 (Coiled-coil domain-containing protein 128) (KLRAQ motif-containing protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ZMI0-1; Sequence=Displayed; Name=2; IsoId=Q6ZMI0-2; Sequence=VSP_024987; Note=No experimental confirmation available.; Name=5; IsoId=Q6ZMI0-5; Sequence=VSP_043216, VSP_024987; Name=3; IsoId=Q6ZMI0-3; Sequence=VSP_024985, VSP_024986; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZMI0-4; Sequence=VSP_024984; Note=No experimental confirmation available.; 


uniprotID: Q13162
geneSymbol: PRDX4
reactome: R-HSA-6798695;
pdb: 2PN8;3TJB;3TJF;3TJG;3TJJ;3TJK;3TKP;3TKQ;3TKR;3TKS;4RQX;5HQP;
length: 271
go: ENSG00000123131;
name:
Peroxiredoxin-4 (EC 1.11.1.15) (Antioxidant enzyme AOE372) (AOE37-2) (Peroxiredoxin IV) (Prx-IV) (Thioredoxin peroxidase AO372) (Thioredoxin-dependent peroxide reductase A0372)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; smooth endoplasmic reticulum [GO:0005790]; protein homodimerization activity [GO:0042803]; thioredoxin peroxidase activity [GO:0008379]; 4-hydroxyproline metabolic process [GO:0019471]; cell redox homeostasis [GO:0045454]; extracellular matrix organization [GO:0030198]; hydrogen peroxide catabolic process [GO:0042744]; I-kappaB phosphorylation [GO:0007252]; male gonad development [GO:0008584]; negative regulation of male germ cell proliferation [GO:2000255]; neutrophil degranulation [GO:0043312]; protein maturation by protein folding [GO:0022417]; response to oxidative stress [GO:0006979]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18052930, ECO:0000269|PubMed:9388242}. Endoplasmic reticulum {ECO:0000269|PubMed:18052930}. Note=Cotranslationally translocated to and retained within the endoplasmic reticulum. A small fraction of the protein is cytoplasmic. {ECO:0000269|PubMed:18052930}.


uniprotID: P30044
geneSymbol: PRDX5
reactome: R-HSA-3299685;R-HSA-5628897;
pdb: 1H4O;1HD2;1OC3;1URM;2VL2;2VL3;2VL9;3MNG;4K7I;4K7N;4K7O;4MMM;
length: 214
go: ENSG00000126432;
drug: DB00995;DB03793;DB03608;
snps: rs7938623
name:
Peroxiredoxin-5, mitochondrial (EC 1.11.1.15) (Alu corepressor 1) (Antioxidant enzyme B166) (AOEB166) (Liver tissue 2D-page spot 71B) (PLP) (Peroxiredoxin V) (Prx-V) (Peroxisomal antioxidant enzyme) (TPx type VI) (Thioredoxin peroxidase PMP20)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; antioxidant activity [GO:0016209]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; peroxidase activity [GO:0004601]; peroxiredoxin activity [GO:0051920]; peroxynitrite reductase activity [GO:0072541]; protein dimerization activity [GO:0046983]; RNA polymerase III regulatory region DNA binding [GO:0001016]; signaling receptor binding [GO:0005102]; thioredoxin peroxidase activity [GO:0008379]; cell redox homeostasis [GO:0045454]; cellular response to oxidative stress [GO:0034599]; cellular response to reactive oxygen species [GO:0034614]; hydrogen peroxide catabolic process [GO:0042744]; inflammatory response [GO:0006954]; NADPH oxidation [GO:0070995]; negative regulation of apoptotic process [GO:0043066]; negative regulation of oxidoreductase activity [GO:0051354]; negative regulation of transcription by RNA polymerase III [GO:0016480]; positive regulation of collagen biosynthetic process [GO:0032967]; reactive nitrogen species metabolic process [GO:2001057]; regulation of apoptosis involved in tissue homeostasis [GO:0060785]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=Mitochondrial; IsoId=P30044-1; Sequence=Displayed; Name=Cytoplasmic+peroxisomal; IsoId=P30044-2; Sequence=VSP_018829; Name=3; IsoId=P30044-3; Sequence=VSP_045783; Note=No experimental confirmation available.; Name=4; IsoId=P30044-4; Sequence=VSP_046682; Note=Produced by alternative splicing.; 

location:
SUBCELLULAR LOCATION: Isoform Mitochondrial: Mitochondrion {ECO:0000269|PubMed:10521424, ECO:0000269|PubMed:10751410}.; SUBCELLULAR LOCATION: Isoform Cytoplasmic+peroxisomal: Cytoplasm {ECO:0000269|PubMed:10514471, ECO:0000269|PubMed:10751410}. Peroxisome matrix {ECO:0000269|PubMed:10514471, ECO:0000269|PubMed:10521424, ECO:0000269|PubMed:10751410}. Note=Imported into peroxisomes via peroxisomal targeting signal 1 receptor PEX5. {ECO:0000269|PubMed:10514471}.


uniprotID: Q96BP3
geneSymbol: PPWD1
reactome: R-HSA-72163;
pdb: 2A2N;5YZG;
length: 646
go: ENSG00000113593;
name:
Peptidylprolyl isomerase domain and WD repeat-containing protein 1 (EC 5.2.1.8) (Spliceosome-associated cyclophilin)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; mRNA splicing, via spliceosome [GO:0000398]; protein peptidyl-prolyl isomerization [GO:0000413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BP3-1; Sequence=Displayed; Name=2; IsoId=Q96BP3-2; Sequence=VSP_055266; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18397323}. Note=Associated with spliceosomal complexes. {ECO:0000269|PubMed:11991638}.


uniprotID: Q9NRG1
geneSymbol: PRTFDC1
pdb: 2JBH;
name: Phosphoribosyltransferase domain-containing protein 1
length: 225
go: ENSG00000099256;
sequence:

opentargets:
cytoplasm [GO:0005737]; magnesium ion binding [GO:0000287]; nucleotide binding [GO:0000166]; protein homodimerization activity [GO:0042803]; purine ribonucleoside salvage [GO:0006166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NRG1-1; Sequence=Displayed; Name=2; IsoId=Q9NRG1-2; Sequence=VSP_031180; Name=3; IsoId=Q9NRG1-3; Sequence=VSP_031179; 


uniprotID: Q96I23
geneSymbol: PYURF
name: Protein preY, mitochondrial (PIGY upstream reading frame protein)
length: 114
go: ENSG00000145337;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:
MLSGARCRLASALRGTRAPPSAVARRCLHASGSRPLADRGKKTEEPPRDFDPALLEFLVCPLSKKPLRYEASTNELINEELGIAYPIIDGIPNMIPQAARMTRQSKKQEEVEQR

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex [GO:0000506]; mitochondrion [GO:0005739]; GPI anchor biosynthetic process [GO:0006506]; positive regulation of metabolic process [GO:0009893]


uniprotID: Q9UKN5
geneSymbol: PRDM4
reactome: R-HSA-193670;
pdb: 2L9Z;3DB5;
name: PR domain zinc finger protein 4 (EC 2.1.1.-) (PR domain-containing protein 4)
length: 801
go: ENSG00000110851;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; histone methyltransferase complex [GO:0035097]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase binding [GO:1990226]; methyltransferase activity [GO:0008168]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; histone H4-R3 methylation [GO:0043985]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q9Y2Y8
geneSymbol: PRG3
reactome: R-HSA-6798695;
length: 225
go: ENSG00000156575;
snps: rs669661 rs540687
name:
Proteoglycan 3 (Eosinophil major basic protein homolog) (Prepro-major basic protein homolog) (Prepro-MBPH)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; carbohydrate binding [GO:0030246]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; basophil activation [GO:0045575]; histamine biosynthetic process [GO:0001694]; leukotriene biosynthetic process [GO:0019370]; negative regulation of translation [GO:0017148]; neutrophil activation [GO:0042119]; neutrophil degranulation [GO:0043312]; positive regulation of interleukin-8 biosynthetic process [GO:0045416]; superoxide anion generation [GO:0042554]

location:
SUBCELLULAR LOCATION: Cytoplasmic granule {ECO:0000269|PubMed:10318872}. Note=Localized to the eosinophil secondary granule.


uniprotID: Q8N7G0
geneSymbol: POU5F2
name: POU domain, class 5, transcription factor 2 (Sperm 1 POU domain transcription factor) (SPRM-1)
length: 328
go: ENSG00000248483;
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00530}.


uniprotID: Q9UBT6
geneSymbol: POLK
reactome: R-HSA-5655862;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;
pdb: 1T94;2LSI;2OH2;2W7O;2W7P;3IN5;3PZP;4BA9;4GK5;4U6P;4U7C;5T14;5W2A;5W2C;6BRX;6BS1;
name: DNA polymerase kappa (EC 2.7.7.7) (DINB protein) (DINP)
length: 870
go: ENSG00000122008;
drug: DB08237;
snps: rs35257416 rs5744713 rs3822587 rs35501530 rs5744716
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; damaged DNA binding [GO:0003684]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9UBT6-1; Sequence=Displayed; Name=2; IsoId=Q9UBT6-2; Sequence=VSP_012801, VSP_012802; Note=No experimental confirmation available.; Name=3; IsoId=Q9UBT6-3; Sequence=VSP_012803; Name=4; IsoId=Q9UBT6-4; Sequence=VSP_012804, VSP_012805, VSP_012806; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; IsoId=Q9UBT6-5; Sequence=VSP_053406, VSP_053409; Name=6; IsoId=Q9UBT6-6; Sequence=VSP_053407, VSP_053408; Name=7; IsoId=Q9UBT6-7; Sequence=VSP_012804, VSP_053407, VSP_053408; Name=8; IsoId=Q9UBT6-8; Sequence=VSP_012804; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12414988, ECO:0000269|PubMed:28297716}. Note=Detected throughout the nucleus and at replication foci (PubMed:12414988). Recruited to DNA damage sites in response to ultraviolet irradiation: N6-methyladenosine (m6A)-containing mRNAs accumulate in the vicinity of DNA damage sites and their presence is required to recruit POLK (PubMed:28297716). {ECO:0000269|PubMed:12414988, ECO:0000269|PubMed:28297716}.


uniprotID: P48454
geneSymbol: PPP3CC
reactome: R-HSA-111447;R-HSA-180024;
length: 512
go: ENSG00000120910;
snps: rs28764007
name:
Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform (EC 3.1.3.16) (CAM-PRP catalytic subunit) (Calcineurin, testis-specific catalytic subunit) (Calmodulin-dependent calcineurin A subunit gamma isoform)

sequence:

opentargets:
calcineurin complex [GO:0005955]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; presynaptic cytosol [GO:0099523]; calmodulin binding [GO:0005516]; calmodulin-dependent protein phosphatase activity [GO:0033192]; metal ion binding [GO:0046872]; brain development [GO:0007420]; calcineurin-mediated signaling [GO:0097720]; calcineurin-NFAT signaling cascade [GO:0033173]; positive regulation of synaptic vesicle endocytosis [GO:1900244]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48454-1; Sequence=Displayed; Name=2; IsoId=P48454-2; Sequence=VSP_037946; Name=3; IsoId=P48454-3; Sequence=VSP_045211; 


uniprotID: Q8WUA2
geneSymbol: PPIL4
reactome: R-HSA-72163;
length: 492
go: ENSG00000131013;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Peptidyl-prolyl cis-trans isomerase-like 4 (PPIase) (EC 5.2.1.8) (Cyclophilin-like protein PPIL4) (Rotamase PPIL4)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; RNA binding [GO:0003723]; regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901407]


uniprotID: Q8N819
geneSymbol: PPM1N
name: Probable protein phosphatase 1N (EC 3.1.3.16)
length: 430
go: ENSG00000213889;
sequence:

opentargets:
magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein serine/threonine phosphatase activity [GO:0004722]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N819-1; Sequence=Displayed; Name=2; IsoId=Q8N819-2; Sequence=VSP_035234, VSP_035235; Name=3; IsoId=Q8N819-3; Sequence=VSP_035233; 


uniprotID: Q9H939
geneSymbol: PSTPIP2
name: Proline-serine-threonine phosphatase-interacting protein 2 (PEST phosphatase-interacting protein 2)
length: 334
go: ENSG00000152229;
snps: rs2276199 rs16978507
sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; cytoskeletal protein binding [GO:0008092]; actin filament polymerization [GO:0030041]; cell migration [GO:0016477]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H939-1; Sequence=Displayed; Name=2; IsoId=Q9H939-2; Sequence=VSP_004070; Note=No experimental confirmation available.; 


uniprotID: Q9Y570
geneSymbol: PPME1
reactome: R-HSA-69273;
pdb: 3C5V;3C5W;
name: Protein phosphatase methylesterase 1 (PME-1) (EC 3.1.1.89)
length: 386
go: ENSG00000214517;
sequence:

opentargets:
nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]; protein C-terminal methylesterase activity [GO:0051722]; protein kinase binding [GO:0019901]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase binding [GO:0019903]; protein phosphatase inhibitor activity [GO:0004864]; protein phosphatase regulator activity [GO:0019888]; G2/M transition of mitotic cell cycle [GO:0000086]; protein demethylation [GO:0006482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y570-1; Sequence=Displayed; Name=2; IsoId=Q9Y570-2; Sequence=VSP_010336; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y570-3; Sequence=VSP_010335, VSP_010337; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y570-4; Sequence=VSP_054818; Note=Gene prediction based on EST data.; 


uniprotID: P51888
geneSymbol: PRELP
reactome: R-HSA-2022854;R-HSA-2022857;R-HSA-3656225;R-HSA-3656243;R-HSA-3656244;
name: Prolargin (Proline-arginine-rich end leucine-rich repeat protein)
length: 382
go: ENSG00000188783;
snps: rs41313926 rs2233726 rs2233732 rs9439
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular vesicle [GO:1903561]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; heparin binding [GO:0008201]; cell aging [GO:0007569]; keratan sulfate biosynthetic process [GO:0018146]; keratan sulfate catabolic process [GO:0042340]; skeletal system development [GO:0001501]


uniprotID: Q9HAZ2
geneSymbol: PRDM16
reactome: R-HSA-3214841;
pdb: 2N1I;6BW4;
length: 1276
go: ENSG00000142611;
snps: rs200052869 rs397514744 rs870124 rs2493292 rs397514743 rs202115331 rs201654872
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19049980}.
name:
PR domain zinc finger protein 16 (PR domain-containing protein 16) (Transcription factor MEL1) (MDS1/EVI1-like gene 1)

sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; activating transcription factor binding [GO:0033613]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; SMAD binding [GO:0046332]; transcription coactivator activity [GO:0003713]; brown fat cell differentiation [GO:0050873]; negative regulation of granulocyte differentiation [GO:0030853]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neurogenesis [GO:0022008]; positive regulation of brown fat cell differentiation [GO:0090336]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cellular respiration [GO:0043457]; roof of mouth development [GO:0060021]; somatic stem cell population maintenance [GO:0035019]; tongue development [GO:0043586]; white fat cell differentiation [GO:0050872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HAZ2-1; Sequence=Displayed; Name=2; Synonyms=MEL1L; IsoId=Q9HAZ2-2; Sequence=VSP_006932; Note=No experimental confirmation available.; Name=3; IsoId=Q9HAZ2-3; Sequence=VSP_038064, VSP_038065; Note=No experimental confirmation available.; Name=4; Synonyms=MEL1S; IsoId=Q9HAZ2-4; Sequence=VSP_038063; Note=Produced by alternative promoter usage.; 


uniprotID: Q8NI37
geneSymbol: PPTC7
length: 304
go: ENSG00000196850;
name:
Protein phosphatase PTC7 homolog (EC 3.1.3.16) (T-cell activation protein phosphatase 2C) (TA-PP2C) (T-cell activation protein phosphatase 2C-like)

sequence:

opentargets:
mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; phosphoprotein phosphatase activity [GO:0004721]


uniprotID: Q8N945
geneSymbol: PRELID2
name: PRELI domain-containing protein 2
length: 189
go: ENSG00000186314;
snps: rs9324996
sequence:
MGVSVDVHQVYKYPFEQVVASFLRKYPNPMDKNVISVKIMEEKRDESTGVIYRKRIAICQNVVPEILRKSLSTLVILCWKKVSILKVPNIQLEEESWLNPRERNMAIRSHCLTWTQYASMKEESVFRESMENPNWTEFIQRGRISITGVGFLNCVLETFASTFLRQGAQKGIRIMEMLLKEQCGAPLAE

opentargets:
mitochondrial intermembrane space [GO:0005758]; phosphatidic acid transporter activity [GO:1990050]; phospholipid transport [GO:0015914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N945-1; Sequence=Displayed; Name=2; IsoId=Q8N945-2; Sequence=VSP_028824, VSP_028825; Note=No experimental confirmation available.; Name=3; IsoId=Q8N945-3; Sequence=VSP_044841; Note=No experimental confirmation available.; 


uniprotID: P32119
geneSymbol: PRDX2
reactome: R-HSA-3299685;R-HSA-5628897;R-HSA-8862803;
pdb: 1QMV;5B8A;5B8B;5IJT;
length: 198
go: ENSG00000167815;
drug: DB02153;DB04048;
snps: rs34012472
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9497357}.
name:
Peroxiredoxin-2 (EC 1.11.1.15) (Natural killer cell-enhancing factor B) (NKEF-B) (PRP) (Thiol-specific antioxidant protein) (TSA) (Thioredoxin peroxidase 1) (Thioredoxin-dependent peroxide reductase 1)

sequence:
MASGNARIGKPAPDFKATAVVDGAFKEVKLSDYKGKYVVLFFYPLDFTFVCPTEIIAFSNRAEDFRKLGCEVLGVSVDSQFTHLAWINTPRKEGGLGPLNIPLLADVTRRLSEDYGVLKTDEGIAYRGLFIIDGKGVLRQITVNDLPVGRSVDEALRLVQAFQYTDEHGEVCPAGWKPGSDTIKPNVDDSKEYFSKHN

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; antioxidant activity [GO:0016209]; thioredoxin peroxidase activity [GO:0008379]; cell redox homeostasis [GO:0045454]; cellular response to oxidative stress [GO:0034599]; hydrogen peroxide catabolic process [GO:0042744]; negative regulation of apoptotic process [GO:0043066]; regulation of apoptotic process [GO:0042981]; removal of superoxide radicals [GO:0019430]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32119-1; Sequence=Displayed; Name=2; IsoId=P32119-2; Sequence=VSP_042924; Note=No experimental confirmation available. Due to intron retention. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P60673
geneSymbol: PFN3
name: Profilin-3 (Profilin III)
length: 137
go: ENSG00000196570;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:
MGDWKVYISAVLRDQRIDDVAIVGHADNSCVWASRPGGLLAAISPQEVGVLTGPDRHTFLQAGLSVGGRRCCVIRDHLLAEGDGVLDARTKGLDARAVCVGRAPRALLVLMGRRGVHGGILNKTVHELIRGLRMQGA

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleus [GO:0005634]; actin binding [GO:0003779]; lipid binding [GO:0008289]; actin cytoskeleton organization [GO:0030036]; positive regulation of actin filament bundle assembly [GO:0032233]; regulation of actin filament polymerization [GO:0030833]


uniprotID: E7EW31
geneSymbol: PROB1
name: Proline-rich basic protein 1
length: 1015
go: ENSG00000228672;
sequence:


uniprotID: P02810
geneSymbol: PRH1; PRH2
length: 166
opentargets: extracellular space [GO:0005615]
snps: rs1130404 rs2923234 rs1049112 rs74062407
location: SUBCELLULAR LOCATION: Secreted.
name:
Salivary acidic proline-rich phosphoprotein 1/2 (Db-s) (PRP-1/PRP-2) (Parotid acidic protein) (Pa) (Parotid double-band protein) (Parotid isoelectric focusing variant protein) (PIF-S) (Parotid proline-rich protein 1/2) (Pr1/Pr2) (Protein C) [Cleaved into: Salivary acidic proline-rich phosphoprotein 1/2; Salivary acidic proline-rich phosphoprotein 3/4 (Db-F) (PIF-F) (PRP-3/PRP-4) (Protein A); Peptide P-C]

sequence:
MLLILLSVALLAFSSAQDLDEDVSQEDVPLVISDGGDSEQFIDEERQGPPLGGQQSQPSAGDGNQDDGPQQGPPQQGGQQQQGPPPPQGKPQGPPQQGGHPPPPQGRPQGPPQQGGHPRPPRGRPQGPPQQGGHQQGPPPPPPGKPQGPPPQGGRPQGPPQGQSPQ


uniprotID: P63133
geneSymbol: ERVK-8
length: 956
name:
Endogenous retrovirus group K member 8 Pol protein (HERV-K115 Pol protein) (HERV-K_8p23.1 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:


uniprotID: P67775
geneSymbol: PPP2CA
pdb: 2IAE;2IE3;2IE4;2NPP;2NYL;2NYM;3C5W;3DW8;3FGA;3K7V;3K7W;3P71;4I5L;4I5N;4IYP;4LAC;5W0W;
length: 309
go: ENSG00000113575;
drug: DB00163;
snps: rs11552681
reactome:
R-HSA-113501;R-HSA-1295596;R-HSA-141444;R-HSA-163685;R-HSA-163767;R-HSA-180024;R-HSA-195253;R-HSA-196299;R-HSA-198753;R-HSA-202670;R-HSA-2465910;R-HSA-2467813;R-HSA-2500257;R-HSA-2995383;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6804757;R-HSA-6811558;R-HSA-68877;R-HSA-69231;R-HSA-69273;R-HSA-70171;R-HSA-975957;

name:
Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform (PP2A-alpha) (EC 3.1.3.16) (Replication protein C) (RP-C)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein phosphatase type 2A complex [GO:0000159]; spindle pole [GO:0000922]; synapse [GO:0045202]; GABA receptor binding [GO:0050811]; metal ion binding [GO:0046872]; phosphoprotein phosphatase activity [GO:0004721]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein serine/threonine phosphatase activity [GO:0004722]; apoptotic process [GO:0006915]; ceramide metabolic process [GO:0006672]; inactivation of MAPK activity [GO:0000188]; meiotic cell cycle [GO:0051321]; mesoderm development [GO:0007498]; negative regulation of cell growth [GO:0030308]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; peptidyl-serine dephosphorylation [GO:0070262]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of microtubule binding [GO:1904528]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; protein dephosphorylation [GO:0006470]; regulation of cell adhesion [GO:0030155]; regulation of cell differentiation [GO:0045595]; regulation of DNA replication [GO:0006275]; regulation of growth [GO:0040008]; regulation of microtubule binding [GO:1904526]; regulation of protein phosphorylation [GO:0001932]; regulation of transcription, DNA-templated [GO:0006355]; regulation of Wnt signaling pathway [GO:0030111]; response to lead ion [GO:0010288]; response to organic substance [GO:0010033]; RNA splicing [GO:0008380]; second-messenger-mediated signaling [GO:0019932]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PP2Acalpha1; IsoId=P67775-1; Sequence=Displayed; Name=2; Synonyms=PP2Acalpha2; IsoId=P67775-2; Sequence=VSP_044320; Note=Catalytically inactive, shows enhanced binding to IGBP1, and does not interact with the scaffolding subunit PPP2R1A.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16541025}. Nucleus {ECO:0000269|PubMed:16541025}. Chromosome, centromere {ECO:0000269|PubMed:16541025}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16541025}. Note=In prometaphase cells, but not in anaphase cells, localizes at centromeres. During mitosis, also found at spindle poles. Centromeric localization requires the presence of SGO2 (By similarity). {ECO:0000250}.


uniprotID: Q12972
geneSymbol: PPP1R8
pdb: 3V4Y;
length: 351
go: ENSG00000117751;
name:
Nuclear inhibitor of protein phosphatase 1 (NIPP-1) (Protein phosphatase 1 regulatory inhibitor subunit 8) [Includes: Activator of RNA decay (EC 3.1.4.-) (ARD-1)]

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; DNA binding [GO:0003677]; endonuclease activity [GO:0004519]; mRNA binding [GO:0003729]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; ribonuclease E activity [GO:0008995]; RNA binding [GO:0003723]; cell proliferation [GO:0008283]; mRNA processing [GO:0006397]; negative regulation of protein dephosphorylation [GO:0035308]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; RNA catabolic process [GO:0006401]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=Q12972-1; Sequence=Displayed; Name=Beta; Synonyms=Delta; IsoId=Q12972-2; Sequence=VSP_005119; Name=Gamma; Synonyms=ARD-1; IsoId=Q12972-3; Sequence=VSP_005120; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Note=Primarily, but not exclusively, nuclear.; SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm. Note=Found mainly in the cytoplasm.


uniprotID: P30041
geneSymbol: PRDX6
reactome: R-HSA-3299685;R-HSA-6798695;
pdb: 1PRX;5B6M;5B6N;
length: 224
go: ENSG00000117592;
drug: DB03814;DB02325;
name:
Peroxiredoxin-6 (EC 1.11.1.15) (1-Cys peroxiredoxin) (1-Cys PRX) (24 kDa protein) (Acidic calcium-independent phospholipase A2) (aiPLA2) (EC 3.1.1.4) (Antioxidant protein 2) (Liver 2D page spot 40) (Non-selenium glutathione peroxidase) (NSGPx) (Red blood cells page spot 12)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; cadherin binding [GO:0045296]; calcium-independent phospholipase A2 activity [GO:0047499]; glutathione peroxidase activity [GO:0004602]; peroxidase activity [GO:0004601]; peroxiredoxin activity [GO:0051920]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; protein homodimerization activity [GO:0042803]; ubiquitin protein ligase binding [GO:0031625]; cell redox homeostasis [GO:0045454]; cellular oxidant detoxification [GO:0098869]; cellular response to oxidative stress [GO:0034599]; glycerophospholipid catabolic process [GO:0046475]; hydrogen peroxide catabolic process [GO:0042744]; neutrophil degranulation [GO:0043312]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; response to oxidative stress [GO:0006979]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16186110, ECO:0000269|PubMed:19188445, ECO:0000269|PubMed:9497358}. Lysosome {ECO:0000250|UniProtKB:O35244}. Note=Also found in lung secretory organelles (lamellar bodies). {ECO:0000250|UniProtKB:O35244}.


uniprotID: Q92954
geneSymbol: PRG4
length: 1404
go: ENSG00000116690;
snps: rs2273779 rs10158395 rs1293985 rs12134934
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14976050}.
name:
Proteoglycan 4 (Lubricin) (Megakaryocyte-stimulating factor) (Superficial zone proteoglycan) [Cleaved into: Proteoglycan 4 C-terminal part]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; polysaccharide binding [GO:0030247]; scavenger receptor activity [GO:0005044]; cell proliferation [GO:0008283]; immune response [GO:0006955]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=A; IsoId=Q92954-1; Sequence=Displayed; Name=B; IsoId=Q92954-2; Sequence=VSP_016467; Name=C; IsoId=Q92954-3; Sequence=VSP_016468; Name=D; IsoId=Q92954-4; Sequence=VSP_016467, VSP_016468; Name=E; IsoId=Q92954-5; Sequence=VSP_016467, VSP_016470; Note=No experimental confirmation available.; Name=F; Synonyms=Hemangiopoietin, HAPO; IsoId=Q92954-6; Sequence=VSP_016469; 


uniprotID: Q9NQV7
geneSymbol: PRDM9
reactome: R-HSA-3214841;R-HSA-912446;
pdb: 4IJD;5EGB;5EH2;5EI9;
length: 894
go: ENSG00000164256;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Chromosome {ECO:0000250}.
name:
Histone-lysine N-methyltransferase PRDM9 (EC 2.1.1.43) (PR domain zinc finger protein 9) (PR domain-containing protein 9)

sequence:

opentargets:
chromosome [GO:0005694]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; recombination hotspot binding [GO:0010844]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; meiotic gene conversion [GO:0006311]; nucleosome positioning [GO:0016584]; positive regulation of reciprocal meiotic recombination [GO:0010845]


uniprotID: P14859
geneSymbol: POU2F1
reactome: R-HSA-6785807;R-HSA-6807505;R-HSA-749476;R-HSA-76071;R-HSA-9018519;
pdb: 1CQT;1E3O;1GT0;1HF0;1O4X;1OCT;1POG;1POU;
length: 743
go: ENSG00000143190;
location: SUBCELLULAR LOCATION: Nucleus.
name:
POU domain, class 2, transcription factor 1 (NF-A1) (Octamer-binding protein 1) (Oct-1) (Octamer-binding transcription factor 1) (OTF-1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; cytokine-mediated signaling pathway [GO:0019221]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P14859-1; Sequence=Displayed; Name=2; Synonyms=Oct-1L, lymphocyte-specific; IsoId=P14859-2; Sequence=VSP_002320; Name=3; IsoId=P14859-3; Sequence=VSP_013421; Note=No experimental confirmation available.; Name=6; IsoId=P14859-6; Sequence=VSP_043195; Note=No experimental confirmation available.; Name=4; IsoId=P14859-4; Sequence=VSP_013422, VSP_013423; Note=No experimental confirmation available.; Name=5; IsoId=P14859-5; Sequence=VSP_043195, VSP_043196; Note=No experimental confirmation available.; 


uniprotID: Q96T60
geneSymbol: PNKP
reactome: R-HSA-5649702;
pdb: 2BRF;2W3O;
length: 521
go: ENSG00000039650;
snps: rs3739168 rs3739173 rs267606957 rs3739185 rs3739186 rs267606956 rs786203983 rs376854895 rs3739206
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10446193}.
name:
Bifunctional polynucleotide phosphatase/kinase (DNA 5'-kinase/3'-phosphatase) (Polynucleotide kinase-3'-phosphatase) [Includes: Polynucleotide 3'-phosphatase (EC 3.1.3.32) (2'(3')-polynucleotidase); Polynucleotide 5'-hydroxyl-kinase (EC 2.7.1.78)]

sequence:

opentargets:
membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity [GO:0046404]; damaged DNA binding [GO:0003684]; double-stranded DNA binding [GO:0003690]; endonuclease activity [GO:0004519]; nucleoside monophosphate kinase activity [GO:0050145]; polynucleotide 3'-phosphatase activity [GO:0046403]; purine nucleotide binding [GO:0017076]; dephosphorylation [GO:0016311]; DNA 3' dephosphorylation involved in DNA repair [GO:0098504]; DNA damage response, detection of DNA damage [GO:0042769]; DNA repair [GO:0006281]; DNA-dependent DNA replication [GO:0006261]; negative regulation of protein ADP-ribosylation [GO:0010836]; nucleotide phosphorylation [GO:0046939]; nucleotide-excision repair, DNA damage removal [GO:0000718]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; response to oxidative stress [GO:0006979]; response to radiation [GO:0009314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96T60-1; Sequence=Displayed; Name=2; IsoId=Q96T60-2; Sequence=VSP_055500; Note=No experimental confirmation available.; 


uniprotID: Q7Z5L7
geneSymbol: PODN
name: Podocan
length: 613
go: ENSG00000174348;
snps: rs12567021 rs1288389
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; collagen binding [GO:0005518]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z5L7-1; Sequence=Displayed; Name=2; IsoId=Q7Z5L7-2; Sequence=VSP_037827; Note=No signal peptide.; Name=3; IsoId=Q7Z5L7-3; Sequence=VSP_021784; Note=No signal peptide. {ECO:0000305}; Name=4; IsoId=Q7Z5L7-4; Sequence=VSP_021784, VSP_039064; Note=No signal peptide. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted, extracellular space, extracellular matrix.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000305}.


uniprotID: Q15063
geneSymbol: POSTN
pdb: 5WT7;5YJG;5YJH;
name: Periostin (PN) (Osteoblast-specific factor 2) (OSF-2)
length: 836
go: ENSG00000133110;
snps: rs9594223 rs9547952
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; neuromuscular junction [GO:0031594]; trans-Golgi network [GO:0005802]; cell adhesion molecule binding [GO:0050839]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; metal ion binding [GO:0046872]; bone regeneration [GO:1990523]; cell adhesion [GO:0007155]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to vitamin K [GO:0071307]; extracellular matrix organization [GO:0030198]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; neuron projection extension [GO:1990138]; positive regulation of chemokine (C-C motif) ligand 2 secretion [GO:1904209]; positive regulation of smooth muscle cell migration [GO:0014911]; regulation of Notch signaling pathway [GO:0008593]; regulation of systemic arterial blood pressure [GO:0003073]; response to estradiol [GO:0032355]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; response to muscle activity [GO:0014850]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1 {ECO:0000269|PubMed:8363580}; Synonyms=OSF-2OS {ECO:0000303|PubMed:8363580}; IsoId=Q15063-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:8363580}; Synonyms=OSF-2p1; IsoId=Q15063-2; Sequence=VSP_050005; Name=3 {ECO:0000269|PubMed:12235007}; IsoId=Q15063-3; Sequence=VSP_050669, VSP_050670; Name=4; IsoId=Q15063-4; Sequence=VSP_050005, VSP_050670; Name=5; IsoId=Q15063-5; Sequence=VSP_050669; Name=6; IsoId=Q15063-6; Sequence=VSP_055183; Name=7; IsoId=Q15063-7; Sequence=VSP_055183, VSP_050670; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250|UniProtKB:Q62009}. Secreted {ECO:0000269|PubMed:18450759, ECO:0000269|PubMed:26273833}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12235007, ECO:0000269|PubMed:18450759}. Note=Colocalizes with BMP1 in the Golgi. {ECO:0000250|UniProtKB:Q62009}.


uniprotID: Q9GZV8
geneSymbol: PRDM14
reactome: R-HSA-452723;
name: PR domain zinc finger protein 14 (EC 2.1.1.-) (PR domain-containing protein 14)
length: 571
go: ENSG00000147596;
snps: rs3750228
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17942894}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; cell fate specification [GO:0001708]; cell morphogenesis [GO:0000902]; embryo implantation [GO:0007566]; fertilization [GO:0009566]; germ cell development [GO:0007281]; germ-line stem cell population maintenance [GO:0030718]; histone H3-R26 methylation [GO:0034972]; homeostasis of number of cells within a tissue [GO:0048873]; inactivation of paternal X chromosome [GO:0060817]; inner cell mass cell fate commitment [GO:0001827]; negative regulation of fibroblast growth factor receptor signaling pathway [GO:0040037]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of flagellated sperm motility [GO:1902093]; positive regulation of stem cell population maintenance [GO:1902459]; regulation of DNA methylation [GO:0044030]; somatic stem cell population maintenance [GO:0035019]


uniprotID: P57071
geneSymbol: PRDM15
length: 1507
go: ENSG00000141956;
snps: rs3819158 rs2236695 rs3850706
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15904895}.
name:
PR domain zinc finger protein 15 (EC 2.1.1.-) (PR domain-containing protein 15) (Zinc finger protein 298)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; multicellular organism development [GO:0007275]; negative regulation of MAPK cascade [GO:0043409]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of stem cell division [GO:2000035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P57071-1; Sequence=Displayed; Name=2; Synonyms=ZNF298b; IsoId=P57071-2; Sequence=VSP_055110, VSP_055111, VSP_055113; Name=3; Synonyms=ZNF298a; IsoId=P57071-3; Sequence=VSP_055110, VSP_055111; Name=4; Synonyms=ZNF298c; IsoId=P57071-5; Sequence=VSP_055110, VSP_055111, VSP_055114, VSP_055117; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=ZNF298d; IsoId=P57071-6; Sequence=VSP_055110, VSP_055111, VSP_055112, VSP_055115, VSP_055116; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q13029
geneSymbol: PRDM2
pdb: 2JV0;2QPW;
length: 1718
go: ENSG00000116731;
snps: rs2076324 rs17350795
name:
PR domain zinc finger protein 2 (EC 2.1.1.43) (GATA-3-binding protein G3B) (Lysine N-methyltransferase 8) (MTB-ZF) (MTE-binding protein) (PR domain-containing protein 2) (Retinoblastoma protein-interacting zinc finger protein) (Zinc finger protein RIZ)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; 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]; histone-lysine N-methyltransferase activity [GO:0018024]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; determination of adult lifespan [GO:0008340]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=5;  Name=1; Synonyms=RIZ1; IsoId=Q13029-1; Sequence=Displayed; Name=2; Synonyms=MTB-Zf; IsoId=Q13029-2; Sequence=VSP_006927, VSP_006928; Note=No experimental confirmation available.; Name=3; Synonyms=RIZ2; IsoId=Q13029-3; Sequence=VSP_018974; Note=Produced by alternative initiation at Met-202 of isoform 1.; Name=4; IsoId=Q13029-4; Sequence=VSP_046421, VSP_046422; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q13029-5; Sequence=VSP_018974, VSP_006927, VSP_006928; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14633678, ECO:0000269|PubMed:7538672, ECO:0000269|PubMed:9006946}.


uniprotID: P13727
geneSymbol: PRG2
reactome: R-HSA-6798695;
pdb: 1H8U;2BRS;4QXX;
length: 222
go: ENSG00000186652;
drug: DB00020;
snps: rs142359007 rs536455
name:
Bone marrow proteoglycan (BMPG) (Proteoglycan 2) [Cleaved into: Eosinophil granule major basic protein (EMBP) (MBP) (Pregnancy-associated major basic protein)]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; transport vesicle [GO:0030133]; carbohydrate binding [GO:0030246]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; heparin binding [GO:0008201]; defense response to bacterium [GO:0042742]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13727-1; Sequence=Displayed; Name=2; IsoId=P13727-2; Sequence=VSP_056735; 

location:
SUBCELLULAR LOCATION: Bone marrow proteoglycan: Secreted. Note=The proform is secreted.; SUBCELLULAR LOCATION: Eosinophil granule major basic protein: Cytoplasmic vesicle, secretory vesicle. Note=The proform is secreted. The mature protein is found in the matrix of the eosinophil's large specific granule (crystalloid core).


uniprotID: P49643
geneSymbol: PRIM2
reactome: R-HSA-113501;R-HSA-174411;R-HSA-174430;R-HSA-68952;R-HSA-68962;R-HSA-69091;R-HSA-69166;R-HSA-69183;
pdb: 3L9Q;3Q36;4BPU;4BPW;4BPX;4RR2;5DQO;5EXR;5F0Q;5F0S;5I7M;
name: DNA primase large subunit (EC 2.7.7.-) (DNA primase 58 kDa subunit) (p58)
length: 509
go: ENSG00000146143;
snps: rs5011403 rs6913546 rs927192 rs3763183 rs9476080 rs4294007 rs4294008
sequence:

opentargets:
alpha DNA polymerase:primase complex [GO:0005658]; nucleoplasm [GO:0005654]; 4 iron, 4 sulfur cluster binding [GO:0051539]; DNA primase activity [GO:0003896]; metal ion binding [GO:0046872]; single-stranded DNA binding [GO:0003697]; DNA replication, synthesis of RNA primer [GO:0006269]; G1/S transition of mitotic cell cycle [GO:0000082]; telomere maintenance via semi-conservative replication [GO:0032201]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49643-1; Sequence=Displayed; Name=2; IsoId=P49643-2; Sequence=VSP_015111, VSP_015112; Note=No experimental confirmation available.; 


uniprotID: Q9UBK2
geneSymbol: PPARGC1A
reactome: R-HSA-1989781;R-HSA-2151201;R-HSA-2151209;R-HSA-381340;R-HSA-3899300;R-HSA-400253;R-HSA-8939902;
pdb: 1XB7;3B1M;3CS8;3D24;3U9Q;3V9T;3V9V;4QJR;4QK4;5Q0I;5TWO;5UNJ;
length: 798
go: ENSG00000109819;
snps: rs8192678 rs3736265
name:
Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1-alpha) (PPAR-gamma coactivator 1-alpha) (PPARGC-1-alpha) (Ligand effect modulator 6)

sequence:

opentargets:
apical dendrite [GO:0097440]; cytosolic ribosome [GO:0022626]; interfibrillar mitochondrion [GO:1990844]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; subsarcolemmal mitochondrion [GO:1990843]; alpha-tubulin binding [GO:0043014]; androgen receptor binding [GO:0050681]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; estrogen receptor binding [GO:0030331]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; peroxisome proliferator activated receptor binding [GO:0042975]; promoter-specific chromatin binding [GO:1990841]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; adaptive thermogenesis [GO:1990845]; adipose tissue development [GO:0060612]; aging [GO:0007568]; androgen metabolic process [GO:0008209]; androgen receptor signaling pathway [GO:0030521]; autophagy of mitochondrion [GO:0000422]; brown fat cell differentiation [GO:0050873]; cellular glucose homeostasis [GO:0001678]; cellular respiration [GO:0045333]; cellular response to caffeine [GO:0071313]; cellular response to estradiol stimulus [GO:0071392]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to fructose stimulus [GO:0071332]; cellular response to glucose stimulus [GO:0071333]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-6 [GO:0071354]; cellular response to ionomycin [GO:1904637]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to nitrite [GO:0071250]; cellular response to oxidative stress [GO:0034599]; cellular response to potassium ion [GO:0035865]; cellular response to resveratrol [GO:1904639]; cellular response to thyroid hormone stimulus [GO:0097067]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; cerebellum development [GO:0021549]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; digestion [GO:0007586]; energy homeostasis [GO:0097009]; fatty acid oxidation [GO:0019395]; flavone metabolic process [GO:0051552]; forebrain development [GO:0030900]; galactose metabolic process [GO:0006012]; gluconeogenesis [GO:0006094]; mitochondrion organization [GO:0007005]; mRNA processing [GO:0006397]; negative regulation of glycolytic process [GO:0045820]; negative regulation of mitochondrial fission [GO:0090258]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron death [GO:1901215]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of signaling receptor activity [GO:2000272]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of smooth muscle cell proliferation [GO:0048662]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of cellular respiration [GO:1901857]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of fatty acid oxidation [GO:0046321]; positive regulation of glomerular visceral epithelial cell apoptotic process [GO:1904635]; positive regulation of gluconeogenesis [GO:0045722]; positive regulation of histone acetylation [GO:0035066]; positive regulation of mitochondrial DNA metabolic process [GO:1901860]; positive regulation of mitochondrion organization [GO:0010822]; positive regulation of muscle tissue development [GO:1901863]; positive regulation of progesterone biosynthetic process [GO:2000184]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein stabilization [GO:0050821]; protein-containing complex assembly [GO:0065003]; regulation of circadian rhythm [GO:0042752]; regulation of NMDA receptor activity [GO:2000310]; regulation of transcription, DNA-templated [GO:0006355]; respiratory electron transport chain [GO:0022904]; response to cold [GO:0009409]; response to dietary excess [GO:0002021]; response to electrical stimulus involved in regulation of muscle adaptation [GO:0014878]; response to epinephrine [GO:0071871]; response to ischemia [GO:0002931]; response to leucine [GO:0043201]; response to metformin [GO:1901558]; response to methionine [GO:1904640]; response to muscle activity [GO:0014850]; response to norepinephrine [GO:0071873]; response to reactive oxygen species [GO:0000302]; response to starvation [GO:0042594]; RNA splicing [GO:0008380]; skeletal muscle atrophy [GO:0014732]; temperature homeostasis [GO:0001659]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q9UBK2-1; Sequence=Displayed; Name=NT-7a; IsoId=Q9UBK2-2; Sequence=VSP_047684, VSP_047685; Name=B5; IsoId=Q9UBK2-3; Sequence=VSP_053724; Note=Produced by alternative promoter usage.; Name=B4; IsoId=Q9UBK2-4; Sequence=VSP_053725; Note=Produced by alternative promoter usage.; Name=B4-8a; IsoId=Q9UBK2-5; Sequence=VSP_053725, VSP_053728, VSP_053729; Note=Produced by alternative promoter usage.; Name=B5-NT; IsoId=Q9UBK2-6; Sequence=VSP_053724, VSP_047684, VSP_047685; Note=Produced by alternative promoter usage.; Name=B4-3ext; IsoId=Q9UBK2-7; Sequence=VSP_053725, VSP_053726, VSP_053727; Note=Produced by alternative promoter usage.; Name=8a; IsoId=Q9UBK2-8; Sequence=VSP_053728, VSP_053729; Name=9; Synonyms=L-PGG-1alpha; IsoId=Q9UBK2-9; Sequence=VSP_053770; Note=Produced by alternative promoter usage. May be involved in gluconeogenesis, liver-specific.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Nucleus, PML body.; SUBCELLULAR LOCATION: Isoform B4: Nucleus.; SUBCELLULAR LOCATION: Isoform B4-8a: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform B5: Nucleus. Nucleus, PML body.; SUBCELLULAR LOCATION: Isoform 9: Nucleus {ECO:0000269|PubMed:22009745}.


uniprotID: P49683
geneSymbol: PRLHR
reactome: R-HSA-375276;
name: Prolactin-releasing peptide receptor (PrRP receptor) (PrRPR) (G-protein coupled receptor 10) (hGR3)
length: 370
go: ENSG00000119973;
snps: rs1613448 rs8192523
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]; neuropeptide receptor activity [GO:0008188]; neuropeptide Y receptor activity [GO:0004983]; feeding behavior [GO:0007631]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; hormone metabolic process [GO:0042445]


uniprotID: Q5HYW2
geneSymbol: NHSL2
name: NHS-like protein 2
length: 709
go: ENSG00000204131;
opentargets: cell differentiation [GO:0030154]
snps: rs7061150
sequence:


uniprotID: P40261
geneSymbol: NNMT
reactome: R-HSA-156581;R-HSA-197264;R-HSA-2408508;
pdb: 2IIP;3ROD;5YJF;6B1A;6CHH;
name: Nicotinamide N-methyltransferase (EC 2.1.1.1)
length: 264
go: ENSG00000166741;
drug: DB00627;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nicotinamide N-methyltransferase activity [GO:0008112]; pyridine N-methyltransferase activity [GO:0030760]; animal organ regeneration [GO:0031100]; methylation [GO:0032259]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; response to drug [GO:0042493]; response to organonitrogen compound [GO:0010243]


uniprotID: Q969G9
geneSymbol: NKD1
name: Protein naked cuticle homolog 1 (Naked-1) (hNkd) (hNkd1)
length: 470
go: ENSG00000140807;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; protein phosphatase type 2A complex [GO:0000159]; calcium ion binding [GO:0005509]; PDZ domain binding [GO:0030165]; eye photoreceptor cell differentiation [GO:0001754]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of convergent extension involved in axis elongation [GO:1901233]; negative regulation of Wnt signaling pathway [GO:0030178]; positive regulation of non-canonical Wnt signaling pathway via JNK cascade [GO:1901231]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]; regulation of cell motility involved in somitogenic axis elongation [GO:0090249]; somatic muscle development [GO:0007525]; Wnt signaling pathway [GO:0016055]


uniprotID: Q96P20
geneSymbol: NLRP3
reactome: R-HSA-5689901;R-HSA-844456;
pdb: 2NAQ;3QF2;
length: 1036
go: ENSG00000162711;
name:
NACHT, LRR and PYD domains-containing protein 3 (Angiotensin/vasopressin receptor AII/AVP-like) (Caterpiller protein 1.1) (CLR1.1) (Cold-induced autoinflammatory syndrome 1 protein) (Cryopyrin) (PYRIN-containing APAF1-like protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; NLRP3 inflammasome complex [GO:0072559]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; peptidoglycan binding [GO:0042834]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to peptidoglycan [GO:0071224]; cytokine secretion involved in immune response [GO:0002374]; defense response [GO:0006952]; defense response to Gram-positive bacterium [GO:0050830]; defense response to virus [GO:0051607]; detection of biotic stimulus [GO:0009595]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1 beta production [GO:0032611]; interleukin-1 secretion [GO:0050701]; interleukin-18 production [GO:0032621]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; NLRP3 inflammasome complex assembly [GO:0044546]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-13 production [GO:0032736]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of interleukin-5 production [GO:0032754]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of T-helper 17 cell differentiation [GO:2000321]; positive regulation of T-helper 2 cell cytokine production [GO:2000553]; positive regulation of T-helper 2 cell differentiation [GO:0045630]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type 2 immune response [GO:0002830]; protein complex oligomerization [GO:0051259]; protein deubiquitination [GO:0016579]; signal transduction [GO:0007165]

snps:
rs200154873 rs180177449 rs121908147 rs180177442 rs180177442 rs180177436 rs180177447 rs121908153 rs180177431 rs180177432 rs121908154 rs151344629 rs121908149 rs28937896 rs180177444 rs180177434 rs180177445 rs180177433 rs180177433 rs180177430 rs121908146 rs145268073 rs180177478 rs180177439 rs121908151 rs180177438 rs121908152 rs121908148 rs180177446 rs180177435 rs35829419 rs180177452 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=2; IsoId=Q96P20-1; Sequence=Displayed; Name=1; IsoId=Q96P20-2; Sequence=VSP_005520, VSP_005521; Name=3; IsoId=Q96P20-3; Sequence=VSP_005519; Name=4; IsoId=Q96P20-4; Sequence=VSP_005520; Name=5; IsoId=Q96P20-5; Sequence=VSP_005521; Note=No experimental confirmation available.; Name=6; IsoId=Q96P20-6; Sequence=VSP_053714; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11786556, ECO:0000269|PubMed:14662828, ECO:0000269|PubMed:17164409}. Inflammasome {ECO:0000269|PubMed:11786556, ECO:0000269|PubMed:14662828, ECO:0000269|PubMed:17164409, ECO:0000269|PubMed:23871209}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q8R4B8}. Secreted {ECO:0000269|PubMed:24952504}. Nucleus {ECO:0000250|UniProtKB:Q8R4B8}. Note=In macrophages, under resting conditions, mainly located in the cytosol, on the endoplasmic reticulum. After stimulation with inducers of the NLRP3 inflammasome, mitochondria redistribute in the vicinity of the endoplasmic reticulum in the perinuclear region, which results in colocalization of NLRP3 on the endoplasmic reticulum and PYCARD on mitochondria, allowing the activation of inflammasome assembly. After the induction of pyroptosis, inflammasome specks are released into the extracellular space where they can further promote IL1B processing and where they can be engulfed by macrophages. Phagocytosis induces lysosomal damage and inflammasome activation in the recipient cells (PubMed:24952504). In the Th2 subset of CD4(+) helper T-cells, mainly located in the nucleus. Nuclear localization depends upon KPNA2. In the Th1 subset of CD4(+) helper T-cells, mainly cytoplasmic (By similarity). {ECO:0000250|UniProtKB:Q8R4B8, ECO:0000269|PubMed:24952504}.


uniprotID: Q96MY1
geneSymbol: NOL4L
name: Nucleolar protein 4-like
length: 436
go: ENSG00000197183;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MY1-1; Sequence=Displayed; Name=2; IsoId=Q96MY1-2; Sequence=VSP_014667, VSP_014668; Note=No experimental confirmation available.; 


uniprotID: Q13423
geneSymbol: NNT
reactome: R-HSA-71403;
pdb: 1DJL;1PT9;1U31;
length: 1086
go: ENSG00000112992;
drug: DB03461;DB01763;DB00157;
name:
NAD(P) transhydrogenase, mitochondrial (EC 1.6.1.2) (Nicotinamide nucleotide transhydrogenase) (Pyridine nucleotide transhydrogenase)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain [GO:0005746]; mitochondrion [GO:0005739]; NAD binding [GO:0051287]; NAD(P)+ transhydrogenase (AB-specific) activity [GO:0008750]; NAD(P)+ transhydrogenase (B-specific) activity [GO:0003957]; NAD(P)+ transhydrogenase activity [GO:0008746]; NADP binding [GO:0050661]; cell redox homeostasis [GO:0045454]; cellular oxidant detoxification [GO:0098869]; NADPH regeneration [GO:0006740]; negative regulation of apoptotic process [GO:0043066]; negative regulation of protein phosphorylation [GO:0001933]; oxidation-reduction process [GO:0055114]; oxygen homeostasis [GO:0032364]; positive regulation of hydrogen peroxide catabolic process [GO:1903285]; positive regulation of mitochondrial membrane potential [GO:0010918]; proton transmembrane transport [GO:1902600]; reactive oxygen species metabolic process [GO:0072593]; response to vitamin [GO:0033273]; tricarboxylic acid cycle [GO:0006099]

snps:
rs867004061 rs1447408865 rs781183677 rs387907232 rs371979800 rs1474421419 rs387907233 rs387907234 rs370273690 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.


uniprotID: Q8NFZ3
geneSymbol: NLGN4Y
reactome: R-HSA-6794361;
name: Neuroligin-4, Y-linked (Neuroligin Y)
length: 816
go: ENSG00000165246;
sequence:

opentargets:
asymmetric, glutamatergic, excitatory synapse [GO:0098985]; cell junction [GO:0030054]; cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; spanning component of membrane [GO:0089717]; symmetric, GABA-ergic, inhibitory synapse [GO:0098983]; synapse [GO:0045202]; cell adhesion molecule binding [GO:0050839]; neurexin family protein binding [GO:0042043]; scaffold protein binding [GO:0097110]; signaling receptor activity [GO:0038023]; learning [GO:0007612]; modulation of chemical synaptic transmission [GO:0050804]; neuron cell-cell adhesion [GO:0007158]; postsynaptic membrane assembly [GO:0097104]; presynapse assembly [GO:0099054]; presynaptic membrane assembly [GO:0097105]; social behavior [GO:0035176]; synaptic vesicle endocytosis [GO:0048488]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NFZ3-1; Sequence=Displayed; Name=2; IsoId=Q8NFZ3-2; Sequence=VSP_007537; Note=No experimental confirmation available.; Name=3; IsoId=Q8NFZ3-3; Sequence=VSP_044852, VSP_044853, VSP_044854, VSP_044855; Note=No experimental confirmation available.; Name=4; IsoId=Q8NFZ3-4; Sequence=VSP_044853, VSP_044854, VSP_044855; Note=No experimental confirmation available.; 

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


uniprotID: Q9H8H0
geneSymbol: NOL11
reactome: R-HSA-6790901;R-HSA-6791226;
name: Nucleolar protein 11
length: 719
go: ENSG00000130935;
snps: rs2291284
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; t-UTP complex [GO:0034455]; RNA binding [GO:0003723]; maturation of SSU-rRNA [GO:0030490]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8H0-1; Sequence=Displayed; Name=2; IsoId=Q9H8H0-2; Sequence=VSP_053283, VSP_053284; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:22916032}.


uniprotID: P78316
geneSymbol: NOP14
reactome: R-HSA-6790901;R-HSA-6791226;
name: Nucleolar protein 14 (Nucleolar complex protein 14)
length: 857
go: ENSG00000087269;
snps: rs2515960 rs1054090
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
90S preribosome [GO:0030686]; membrane [GO:0016020]; Noc4p-Nop14p complex [GO:0030692]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; enzyme binding [GO:0019899]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000480]; endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000447]; endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000472]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; ribosomal small subunit biogenesis [GO:0042274]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78316-1; Sequence=Displayed; Name=2; IsoId=P78316-2; Sequence=VSP_018021, VSP_018022; Note=No experimental confirmation available.; 


uniprotID: Q9NPB1
geneSymbol: NT5M
reactome: R-HSA-73621;
length: 228
go: ENSG00000205309;
drug: DB02217;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10899995}.
pdb:
1MH9;1Q91;1Q92;1Z4I;1Z4J;1Z4K;1Z4L;1Z4M;1Z4P;1Z4Q;2JAU;2JAW;4L6A;4L6C;4MUM;4MWO;4NFL;4YIK;6G22;6G2L;6G2M;

name:
5'(3')-deoxyribonucleotidase, mitochondrial (5',3'-nucleotidase, mitochondrial) (EC 3.1.3.-) (Deoxy-5'-nucleotidase 2) (dNT-2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 5'-nucleotidase activity [GO:0008253]; metal ion binding [GO:0046872]; nucleotidase activity [GO:0008252]; nucleotide binding [GO:0000166]; DNA replication [GO:0006260]; dUMP catabolic process [GO:0046079]; pyrimidine deoxyribonucleotide catabolic process [GO:0009223]; pyrimidine nucleoside catabolic process [GO:0046135]


uniprotID: P61970
geneSymbol: NUTF2
pdb: 1GY5;
name: Nuclear transport factor 2 (NTF-2) (Placental protein 15) (PP15)
length: 127
go: ENSG00000102898;
sequence:
MGDKPIWEQIGSSFIQHYYQLFDNDRTQLGAIYIDASCLTWEGQQFQGKAAIVEKLSSLPFQKIQHSITAQDHQPTPDSCIISMVVGQLKADEDPIMGFHQMFLLKNINDAWVCTNDMFRLALHNFG

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; nuclear pore central transport channel [GO:0044613]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; nuclear import signal receptor activity [GO:0061608]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; structural constituent of nuclear pore [GO:0017056]; mRNA transport [GO:0051028]; negative regulation of vascular endothelial growth factor production [GO:1904046]; nucleocytoplasmic transport [GO:0006913]; positive regulation of protein import into nucleus [GO:0042307]; protein export from nucleus [GO:0006611]; protein import into nucleus [GO:0006606]; protein import into nucleus, translocation [GO:0000060]; protein localization to nuclear pore [GO:0090204]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10679025, ECO:0000269|PubMed:7744965}. Nucleus outer membrane {ECO:0000250|UniProtKB:P61972}. Nucleus, nuclear pore complex {ECO:0000250|UniProtKB:P61972}. Nucleus inner membrane {ECO:0000250|UniProtKB:P61972}. Nucleus, nucleoplasm {ECO:0000269|PubMed:10679025}. Note=At steady state it is essentially nucleoplasmic, enriched in nucleoplasmic foci. {ECO:0000269|PubMed:10679025}.


uniprotID: Q14973
geneSymbol: SLC10A1
reactome: R-HSA-159418;
length: 349
go: ENSG00000100652;
snps: rs2296651
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/bile acid cotransporter (Cell growth-inhibiting gene 29 protein) (Na(+)/bile acid cotransporter) (Na(+)/taurocholate transport protein) (Sodium/taurocholate cotransporting polypeptide) (Solute carrier family 10 member 1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bile acid:sodium symporter activity [GO:0008508]; virus receptor activity [GO:0001618]; bile acid and bile salt transport [GO:0015721]

drug:
DB00887;DB02659;DB00286;DB00091;DB03619;DB00977;DB02123;DB00328;DB00279;DB01583;DB08860;DB01032;DB00396;DB04348;DB00624;DB01586;


uniprotID: Q9BSD7
geneSymbol: NTPCR
pdb: 2I3B;
length: 190
go: ENSG00000135778;
snps: rs12123482
name:
Cancer-related nucleoside-triphosphatase (NTPase) (EC 3.6.1.15) (Nucleoside triphosphate phosphohydrolase)

sequence:
MARHVFLTGPPGVGKTTLIHKASEVLKSSGVPVDGFYTEEVRQGGRRIGFDVVTLSGTRGPLSRVGLEPPPGKRECRVGQYVVDLTSFEQLALPVLRNADCSSGPGQRVCVIDEIGKMELFSQLFIQAVRQTLSTPGTIILGTIPVPKGKPLALVEEIRNRKDVKVFNVTKENRNHLLPDIVTCVQSSRK

opentargets:
membrane [GO:0016020]; ATP binding [GO:0005524]; nucleoside-triphosphatase activity [GO:0017111]; nucleotide phosphatase activity, acting on free nucleotides [GO:0098519]; RNA binding [GO:0003723]


uniprotID: P20783
geneSymbol: NTF3
reactome: R-HSA-9025046;R-HSA-9034013;R-HSA-9034015;R-HSA-9034793;R-HSA-9034864;R-HSA-9603381;
pdb: 1B8K;1BND;1NT3;3BUK;
name: Neurotrophin-3 (NT-3) (HDNF) (Nerve growth factor 2) (NGF-2) (Neurotrophic factor)
length: 257
go: ENSG00000185652;
drug: DB05066;
snps: rs1805149
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
axon [GO:0030424]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; synaptic vesicle [GO:0008021]; chemoattractant activity [GO:0042056]; growth factor activity [GO:0008083]; neurotrophin receptor binding [GO:0005165]; signaling receptor binding [GO:0005102]; activation of GTPase activity [GO:0090630]; activation of MAPK activity [GO:0000187]; activation of protein kinase B activity [GO:0032148]; cell-cell signaling [GO:0007267]; induction of positive chemotaxis [GO:0050930]; memory [GO:0007613]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; nerve development [GO:0021675]; nerve growth factor signaling pathway [GO:0038180]; nervous system development [GO:0007399]; neuron projection morphogenesis [GO:0048812]; peripheral nervous system development [GO:0007422]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of receptor internalization [GO:0002092]; regulation of apoptotic process [GO:0042981]; regulation of neuron differentiation [GO:0045664]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20783-1; Sequence=Displayed; Name=2; IsoId=P20783-2; Sequence=VSP_043353; Note=No experimental confirmation available.; 


uniprotID: P03886
geneSymbol: MT-ND1
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 1 (EC 7.1.1.2) (NADH dehydrogenase subunit 1)
length: 318
go: ENSG00000198888;
drug: DB01189;DB01159;DB00753;DB01028;DB04464;DB00157;DB01236;
sequence:

opentargets:
dendrite [GO:0030425]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; neuronal cell body [GO:0043025]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; aerobic respiration [GO:0009060]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to drug [GO:0042493]; response to hydroperoxide [GO:0033194]; response to organic cyclic compound [GO:0014070]

snps:
rs2853516 rs41460449 rs201212638 rs199476120 rs199476118 rs2854133 rs2854135 rs199476123 rs199476121 rs199476119 rs1599988 


uniprotID: Q86UY8
geneSymbol: NT5DC3
name: 5'-nucleotidase domain-containing protein 3 (EC 3.1.3.-) (GRP94-neighboring nucleotidase)
length: 548
go: ENSG00000111696;
snps: rs12184494
sequence:

opentargets:
receptor complex [GO:0043235]; 5'-nucleotidase activity [GO:0008253]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UY8-1; Sequence=Displayed; Name=2; IsoId=Q86UY8-2; Sequence=VSP_032643, VSP_032644; 


uniprotID: Q86T03
geneSymbol: PIP4P1
reactome: R-HSA-6811555;R-HSA-8847453;
length: 277
go: ENSG00000165782;
name:
Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase (Type 1 PtdIns-4,5-P2 4-Ptase) (EC 3.1.3.78) (PtdIns-4,5-P2 4-Ptase I) (Transmembrane protein 55B)

sequence:

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; nucleoplasm [GO:0005654]; phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity [GO:0034597]; phosphatidylinositol dephosphorylation [GO:0046856]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86T03-1; Sequence=Displayed; Name=2; IsoId=Q86T03-2; Sequence=VSP_007815; Note=No experimental confirmation available.; Name=3; IsoId=Q86T03-3; Sequence=VSP_007816, VSP_007817; Note=May be due to intron retention.; 

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


uniprotID: Q8TF05
geneSymbol: PPP4R1
name: Serine/threonine-protein phosphatase 4 regulatory subunit 1
length: 950
go: ENSG00000154845;
snps: rs1056191 rs329003 rs2306134 rs2306134
sequence:

opentargets:
protein phosphatase 4 complex [GO:0030289]; protein phosphatase regulator activity [GO:0019888]; protein dephosphorylation [GO:0006470]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PP4Rmeg; IsoId=Q8TF05-1; Sequence=Displayed; Name=2; IsoId=Q8TF05-2; Sequence=VSP_009469; 


uniprotID: E7EU14
geneSymbol: PPP5D1
name: Protein PPP5D1 (PPP5 TPR repeat domain-containing protein 1)
length: 171
go: ENSG00000230510;
sequence:
MAEMRAWRPLVRPSLQCVKLGRATARWWWVVKVKPHDKDAKMKYQECNKIVKQKAFERAIAGDEHKRSVVDSLDIESMTIEGEYSGPKLEDDKVTITFMKGLMQWYKDQKKLHQKCAYQGLALSPRLKCSGTITAHCSLNLLGPRDPPTSASQVAVTEGMHHHTWLIFLFL


uniprotID: Q9UPN7
geneSymbol: PPP6R1
reactome: R-HSA-204005;
name: Serine/threonine-protein phosphatase 6 regulatory subunit 1 (SAPS domain family member 1)
length: 881
go: ENSG00000105063;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16769727, ECO:0000269|PubMed:18186651}.
sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; protein phosphatase binding [GO:0019903]; Rho GTPase binding [GO:0017048]; COPII vesicle coating [GO:0048208]; regulation of phosphoprotein phosphatase activity [GO:0043666]


uniprotID: P03915
geneSymbol: MT-ND5
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 5 (EC 7.1.1.2) (NADH dehydrogenase subunit 5)
length: 603
go: ENSG00000198786;
drug: DB05382;DB00157;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; neuron projection [GO:0043005]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to organonitrogen compound [GO:0010243]

snps:
rs267606893 rs267606894 rs267606899 rs267606898 rs267606895 rs267606896 rs2853501 rs2853502 rs267606897 rs28359178 rs387906425 rs386420024 


uniprotID: Q16621
geneSymbol: NFE2
reactome: R-HSA-8936459;R-HSA-983231;
pdb: 1LVX;2KZ5;
length: 373
go: ENSG00000123405;
name:
Transcription factor NF-E2 45 kDa subunit (Leucine zipper protein NF-E2) (Nuclear factor, erythroid-derived 2 45 kDa subunit) (p45 NF-E2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-DNA complex [GO:0032993]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein N-terminus binding [GO:0047485]; proximal promoter sequence-specific DNA binding [GO:0000987]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; WW domain binding [GO:0050699]; blood circulation [GO:0008015]; blood coagulation [GO:0007596]; hemostasis [GO:0007599]; multicellular organism development [GO:0007275]; nucleosome disassembly [GO:0006337]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of transcription by RNA polymerase II [GO:0006357]

location:
SUBCELLULAR LOCATION: Nucleus, PML body. Cytoplasm. Note=The sumoylated form locates to the nuclear bodies PML oncogenic domains (PODs). Translocated to the cytoplasm through interaction with ITCH.


uniprotID: Q96PU5
geneSymbol: NEDD4L
reactome: R-HSA-162588;R-HSA-2173788;R-HSA-2173795;R-HSA-2672351;R-HSA-983168;
pdb: 2LAJ;2LB2;2LTY;2MPT;2NSQ;2ONI;3JVZ;3JW0;5HPK;
length: 975
go: ENSG00000049759;
snps: rs767136811 rs879255599 rs879255598 rs879255597 rs879255596
name:
E3 ubiquitin-protein ligase NEDD4-like (EC 2.3.2.26) (HECT-type E3 ubiquitin transferase NED4L) (NEDD4.2) (Nedd4-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; intracellular [GO:0005622]; multivesicular body [GO:0005771]; nucleoplasm [GO:0005654]; ion channel binding [GO:0044325]; potassium channel inhibitor activity [GO:0019870]; potassium channel regulator activity [GO:0015459]; sodium channel inhibitor activity [GO:0019871]; sodium channel regulator activity [GO:0017080]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cellular sodium ion homeostasis [GO:0006883]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; negative regulation of potassium ion transmembrane transport [GO:1901380]; negative regulation of potassium ion transmembrane transporter activity [GO:1901017]; negative regulation of protein localization to cell surface [GO:2000009]; negative regulation of sodium ion transmembrane transport [GO:1902306]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of caveolin-mediated endocytosis [GO:2001288]; positive regulation of dendrite extension [GO:1903861]; positive regulation of endocytosis [GO:0045807]; positive regulation of protein catabolic process [GO:0045732]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K48-linked ubiquitination [GO:0070936]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of dendrite morphogenesis [GO:0048814]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane depolarization [GO:0003254]; regulation of membrane potential [GO:0042391]; regulation of membrane repolarization [GO:0060306]; regulation of potassium ion transmembrane transporter activity [GO:1901016]; regulation of protein catabolic process [GO:0042176]; regulation of protein stability [GO:0031647]; response to metal ion [GO:0010038]; sodium ion transport [GO:0006814]; ubiquitin-dependent protein catabolic process [GO:0006511]; ventricular cardiac muscle cell action potential [GO:0086005]; viral life cycle [GO:0019058]; water homeostasis [GO:0030104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=Nedd4-2c; IsoId=Q96PU5-1; Sequence=Displayed; Name=2; IsoId=Q96PU5-2; Sequence=VSP_015448; Note=No experimental confirmation available.; Name=3; Synonyms=NEDD4Le; IsoId=Q96PU5-3; Sequence=VSP_015447; Note=No experimental confirmation available.; Name=4; Synonyms=NEDD4La, NEDD4Lb, NEDD4Lf; IsoId=Q96PU5-4; Sequence=VSP_015444; Name=5; Synonyms=NEDD4Ld; IsoId=Q96PU5-5; Sequence=VSP_043848; Name=6; Synonyms=NEDD4Lh; IsoId=Q96PU5-6; Sequence=VSP_015446, VSP_043848; Name=7; Synonyms=NEDD4Lg; IsoId=Q96PU5-7; Sequence=VSP_015446; Name=8; IsoId=Q96PU5-9; Sequence=VSP_015444, VSP_043848; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15496141, ECO:0000269|PubMed:18819914, ECO:0000269|PubMed:27694961}. Golgi apparatus {ECO:0000269|PubMed:26363003}. Endosome, multivesicular body {ECO:0000269|PubMed:26363003}. Note=May be recruited to exosomes by NDFIP1.


uniprotID: Q969V3
geneSymbol: NCLN
name: Nicalin (Nicastrin-like protein)
length: 563
go: ENSG00000125912;
snps: rs11671067 rs2288949
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; protein stabilization [GO:0050821]; regulation of protein complex assembly [GO:0043254]; regulation of protein complex stability [GO:0061635]; regulation of signal transduction [GO:0009966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969V3-1; Sequence=Displayed; Name=2; IsoId=Q969V3-2; Sequence=VSP_013851; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15257293, ECO:0000269|PubMed:20538592}; Single-pass membrane protein {ECO:0000269|PubMed:15257293, ECO:0000269|PubMed:20538592}.


uniprotID: O43908
geneSymbol: KLRC4
name: NKG2-F type II integral membrane protein (NK cell receptor F) (NKG2-F-activating NK receptor)
length: 158
go: ENSG00000183542;
opentargets: integral component of membrane [GO:0016021]; cellular defense response [GO:0006968]
snps: rs1841958 rs2617170
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
sequence:
MNKQRGTYSEVSLAQDPKRQQRKLKGNKISISGTKQEIFQVELNLQNASSDHQGNDKTYHCKGLLPPPEKLTAEVLGIICIVLMATVLKTIVLIPCIGVLEQNNFSLNRRMQKARHCGHCPEEWITYSNSCYYIGKERRTWEERVCWPVLRRTLICFL


uniprotID: O00746
geneSymbol: NME4
reactome: R-HSA-499943;
pdb: 1EHW;
length: 187
go: ENSG00000103202;
name:
Nucleoside diphosphate kinase, mitochondrial (NDK) (NDP kinase, mitochondrial) (EC 2.7.4.6) (Nucleoside diphosphate kinase D) (NDPKD) (nm23-H4)

sequence:
MGGLFWRSALRGLRCGPRAPGPSLLVRHGSGGPSWTRERTLVAVKPDGVQRRLVGDVIQRFERRGFTLVGMKMLQAPESVLAEHYQDLRRKPFYPALIRYMSSGPVVAMVWEGYNVVRASRAMIGHTDSAEAAPGTIRGDFSVHISRNVIHASDSVEGAQREIQLWFQSSELVSWADGGQHSSIHPA

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; cardiolipin binding [GO:1901612]; metal ion binding [GO:0046872]; nucleoside diphosphate kinase activity [GO:0004550]; CTP biosynthetic process [GO:0006241]; GTP biosynthetic process [GO:0006183]; lipid transport [GO:0006869]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside metabolic process [GO:0009116]; UTP biosynthetic process [GO:0006228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00746-1; Sequence=Displayed; Name=2; IsoId=O00746-2; Sequence=VSP_054743; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:18635542}; Peripheral membrane protein. Mitochondrion matrix {ECO:0000305|PubMed:18635542}. Note=Predominantly localized in the mitochondrion intermembrane space (PubMed:18635542). Colocalizes with OPA1 in mitochondria (PubMed:24970086). {ECO:0000269|PubMed:18635542, ECO:0000269|PubMed:24970086}.


uniprotID: P28336
geneSymbol: NMBR
reactome: R-HSA-375276;R-HSA-416476;
length: 390
go: ENSG00000135577;
snps: rs7453944
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Neuromedin-B receptor (NMB-R) (Epididymis tissue protein Li 185a) (Neuromedin-B-preferring bombesin receptor)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bombesin receptor activity [GO:0004946]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]


uniprotID: P59044
geneSymbol: NLRP6
length: 892
go: ENSG00000174885;
snps: rs6421985 rs7482965 rs966612159
name:
NACHT, LRR and PYD domains-containing protein 6 (Angiotensin II/vasopressin receptor) (PYRIN-containing APAF1-like protein 5)

sequence:

opentargets:
inflammasome complex [GO:0061702]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; vasopressin receptor activity [GO:0005000]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response to antigenic stimulus [GO:0002862]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; regulation of autophagy [GO:0010506]; regulation of inflammatory response [GO:0050727]; regulation of mucus secretion [GO:0070255]; response to bacterium [GO:0009617]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59044-1; Sequence=Displayed; Name=2; IsoId=P59044-2; Sequence=VSP_054400; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12387869}. Inflammasome {ECO:0000269|PubMed:12387869}. Cell membrane {ECO:0000250|UniProtKB:Q63035}. Nucleus membrane {ECO:0000250|UniProtKB:Q63035}.


uniprotID: O15522
geneSymbol: NKX2-8
name: Homeobox protein Nkx-2.8 (Homeobox protein NK-2 homolog H)
length: 239
go: ENSG00000136327;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; 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]; axonogenesis [GO:0007409]; liver development [GO:0001889]; lung development [GO:0030324]; negative regulation of epithelial cell proliferation [GO:0050680]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]; transcription, DNA-templated [GO:0006351]


uniprotID: P78367
geneSymbol: NKX3-2
reactome: R-HSA-8939902;
name: Homeobox protein Nkx-3.2 (Bagpipe homeobox protein homolog 1) (Homeobox protein NK-3 homolog B)
length: 333
go: ENSG00000109705;
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 repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; animal organ formation [GO:0048645]; determination of left/right symmetry [GO:0007368]; embryonic skeletal system development [GO:0048706]; intestinal epithelial cell development [GO:0060576]; middle ear morphogenesis [GO:0042474]; negative regulation of apoptotic process [GO:0043066]; negative regulation of chondrocyte differentiation [GO:0032331]; pancreas development [GO:0031016]; skeletal system development [GO:0001501]; skeletal system morphogenesis [GO:0048705]; spleen development [GO:0048536]; transcription by RNA polymerase II [GO:0006366]


uniprotID: P78426
geneSymbol: NKX6-1
reactome: R-HSA-210745;R-HSA-210747;
name: Homeobox protein Nkx-6.1 (Homeobox protein NK-6 homolog A)
length: 367
go: ENSG00000163623;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; animal organ morphogenesis [GO:0009887]; cellular response to cytokine stimulus [GO:0071345]; cellular response to peptide hormone stimulus [GO:0071375]; detection of glucose [GO:0051594]; negative regulation of glial cell differentiation [GO:0045686]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron migration [GO:0001764]; oligodendrocyte differentiation [GO:0048709]; pancreas development [GO:0031016]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of glial cell differentiation [GO:0045687]; positive regulation of insulin secretion [GO:0032024]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type B pancreatic cell development [GO:2000078]; regulation of axon extension [GO:0030516]; regulation of neuron migration [GO:2001222]; regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification [GO:0021912]; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification [GO:0021913]; response to nicotine [GO:0035094]; smoothened signaling pathway [GO:0007224]; transcription by RNA polymerase II [GO:0006366]; type B pancreatic cell maturation [GO:0072560]; type B pancreatic cell proliferation [GO:0044342]


uniprotID: P03901
geneSymbol: MT-ND4L
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 4L (EC 7.1.1.2) (NADH dehydrogenase subunit 4L)
sequence: MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC
length: 98
go: ENSG00000212907;
drug: DB00157;
snps: rs267606892 rs193302933
opentargets:
integral component of membrane [GO:0016021]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase complex [GO:0030964]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]


uniprotID: P03905
geneSymbol: MT-ND4
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 4 (EC 7.1.1.2) (NADH dehydrogenase subunit 4)
length: 459
go: ENSG00000198886;
drug: DB00157;
snps: rs199476113 rs200873900 rs199476112 rs879136236
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I [GO:0005747]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; ubiquinone binding [GO:0048039]; aerobic respiration [GO:0009060]; aging [GO:0007568]; cerebellum development [GO:0021549]; electron transport coupled proton transport [GO:0015990]; in utero embryonic development [GO:0001701]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]; response to nicotine [GO:0035094]


uniprotID: Q5H9R7
geneSymbol: PPP6R3
reactome: R-HSA-204005;
length: 873
go: ENSG00000110075;
snps: rs34009811
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Serine/threonine-protein phosphatase 6 regulatory subunit 3 (SAPS domain family member 3) (Sporulation-induced transcript 4-associated protein SAPL)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; protein phosphatase binding [GO:0019903]; COPII vesicle coating [GO:0048208]; regulation of phosphoprotein phosphatase activity [GO:0043666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q5H9R7-1; Sequence=Displayed; Name=2; IsoId=Q5H9R7-2; Sequence=VSP_017142; Name=3; Synonyms=B, C11orf23b, SAPLb; IsoId=Q5H9R7-3; Sequence=VSP_017140, VSP_017141, VSP_017144; Name=4; Synonyms=A, C11orf23a, SAPLa; IsoId=Q5H9R7-4; Sequence=VSP_017140, VSP_017141; Name=5; IsoId=Q5H9R7-5; Sequence=VSP_017143; Name=6; IsoId=Q5H9R7-6; Sequence=VSP_017141; 


uniprotID: Q14249
geneSymbol: ENDOG
name: Endonuclease G, mitochondrial (Endo G) (EC 3.1.30.-)
length: 297
go: ENSG00000167136;
snps: rs2293969
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perikaryon [GO:0043204]; endonuclease activity [GO:0004519]; endoribonuclease activity [GO:0004521]; exodeoxyribonuclease activity [GO:0004529]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; aging [GO:0007568]; apoptotic DNA fragmentation [GO:0006309]; cellular response to calcium ion [GO:0071277]; cellular response to glucose stimulus [GO:0071333]; cellular response to hypoxia [GO:0071456]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA recombination [GO:0006310]; in utero embryonic development [GO:0001701]; neuron death in response to oxidative stress [GO:0036475]; positive regulation of apoptotic DNA fragmentation [GO:1902512]; positive regulation of hydrogen peroxide-mediated programmed cell death [GO:1901300]; response to antibiotic [GO:0046677]; response to estradiol [GO:0032355]; response to mechanical stimulus [GO:0009612]; response to tumor necrosis factor [GO:0034612]


uniprotID: P24666
geneSymbol: ACP1
pdb: 1XWW;3N8I;4Z99;4Z9A;4Z9B;5JNR;5JNS;5JNT;5KQG;5KQL;5KQM;5KQP;5PNT;
length: 158
go: ENSG00000143727;
drug: DB04214;DB00173;
snps: rs11691572 rs79716074 rs35569198
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Low molecular weight phosphotyrosine protein phosphatase (LMW-PTP) (LMW-PTPase) (EC 3.1.3.48) (Adipocyte acid phosphatase) (Low molecular weight cytosolic acid phosphatase) (EC 3.1.3.2) (Red cell acid phosphatase 1)

sequence:
MAEQATKSVLFVCLGNICRSPIAEAVFRKLVTDQNISENWRVDSAATSGYEIGNPPDYRGQSCMKRHGIPMSHVARQITKEDFATFDYILCMDESNLRDLNRKSNQVKTCKAKIELLGSYDPQKQLIIEDPYYGNDSDFETVYQQCVRCCRAFLEKAH

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; extracellular exosome [GO:0070062]; acid phosphatase activity [GO:0003993]; non-membrane spanning protein tyrosine phosphatase activity [GO:0004726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=The ratio of isoform 1 to isoform 2 is 2:1 in allele A, 4:1 in allele B and 1:4 in allele C.; Name=1; Synonyms=F, A, Alpha, LMPTP-A, HCPTP-A; IsoId=P24666-1; Sequence=Displayed; Name=2; Synonyms=S, B, Beta, LMPTP-B, HCPTP-B; IsoId=P24666-2, P24667-1; Sequence=VSP_010087; Name=3; Synonyms=C, LMPTP-C; IsoId=P24666-3; Sequence=VSP_010088; Name=4; IsoId=P24666-4; Sequence=VSP_054074, VSP_054075; Note=No experimental confirmation available.; 


uniprotID: Q9Y5Y2
geneSymbol: NUBP2
reactome: R-HSA-2564830;
name: Cytosolic Fe-S cluster assembly factor NUBP2 (Nucleotide-binding protein 2) (NBP 2)
length: 271
go: ENSG00000095906;
snps: rs57822546 rs35030308 rs34028164
sequence:

opentargets:
centriole [GO:0005814]; cilium [GO:0005929]; cytosol [GO:0005829]; nucleus [GO:0005634]; spindle pole centrosome [GO:0031616]; 4 iron, 4 sulfur cluster binding [GO:0051539]; ATP binding [GO:0005524]; iron-sulfur cluster binding [GO:0051536]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; cell projection organization [GO:0030030]; iron-sulfur cluster assembly [GO:0016226]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03039}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000255|HAMAP-Rule:MF_03039}. Cytoplasm {ECO:0000250|UniProtKB:Q9R061}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q9R061}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q9R061}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000250|UniProtKB:Q9R061}. Note=Enriched at the centrosomes during mitosis. Enriched in centrioles of microtubule asters during prophase, prometaphase and telophase stages of mitosis (By similarity). Localized at centrioles and in the nucleus at interphase (By similarity). Colocalizes with nubp-1 at prometaphase (By similarity). {ECO:0000250|UniProtKB:Q9R061, ECO:0000255|HAMAP-Rule:MF_03039}.


uniprotID: Q7Z417
geneSymbol: NUFIP2
length: 695
go: ENSG00000108256;
name:
Nuclear fragile X mental retardation-interacting protein 2 (82 kDa FMRP-interacting protein) (82-FIP) (Cell proliferation-inducing gene 1 protein) (FMRP-interacting protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; polysomal ribosome [GO:0042788]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z417-1; Sequence=Displayed; Name=2; IsoId=Q7Z417-2; Sequence=VSP_056177; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:26184334}. Cytoplasm {ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:26184334}. Cytoplasm, Stress granule {ECO:0000269|PubMed:26184334}. Note=Distribution is cell cycle-modulated, being cytoplasmic in the G2/M phase and accumulating in nucleus during the G1 phase (PubMed:12837692). {ECO:0000269|PubMed:12837692, ECO:0000269|PubMed:26184334}.


uniprotID: O75147
geneSymbol: OBSL1
reactome: R-HSA-8951664;
pdb: 2CPC;2E6P;2E6Q;2LU7;2LVC;2WP3;2WWK;2WWM;3KNB;5FM5;
name: Obscurin-like protein 1
length: 1896
go: ENSG00000124006;
sequence:

opentargets:
3M complex [GO:1990393]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intercalated disc [GO:0014704]; M band [GO:0031430]; perinuclear region of cytoplasm [GO:0048471]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; cytoskeletal adaptor activity [GO:0008093]; muscle alpha-actinin binding [GO:0051371]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; cytoskeleton organization [GO:0007010]; Golgi organization [GO:0007030]; microtubule cytoskeleton organization [GO:0000226]; muscle contraction [GO:0006936]; positive regulation of dendrite morphogenesis [GO:0050775]; post-translational protein modification [GO:0043687]; protein localization to Golgi apparatus [GO:0034067]; regulation of mitotic nuclear division [GO:0007088]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75147-3; Sequence=Displayed; Name=2; IsoId=O75147-2; Sequence=VSP_040784, VSP_040785; Name=3; IsoId=O75147-1; Sequence=VSP_040786, VSP_040787, VSP_040788; Name=4; IsoId=O75147-4; Sequence=VSP_054755, VSP_054756; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24793695}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24793695}. Golgi apparatus {ECO:0000269|PubMed:21572988}. Note=Colocalizes with CUL7 at the Golgi apparatus in neurons (PubMed:21572988).


uniprotID: Q8IXM7
geneSymbol: ODF3L1
name: Outer dense fiber protein 3-like protein 1
length: 274
go: ENSG00000182950;
snps: rs55905564
sequence:


uniprotID: Q16625
geneSymbol: OCLN
reactome: R-HSA-351906;R-HSA-8935964;
pdb: 1WPA;1XAW;3G7C;
name: Occludin
length: 522
go: ENSG00000197822;
snps: rs267606926
sequence:

opentargets:
apical plasma membrane [GO:0016324]; apicolateral plasma membrane [GO:0016327]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell-cell junction [GO:0005911]; cytoplasmic vesicle [GO:0031410]; endocytic vesicle [GO:0030139]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; protein domain specific binding [GO:0019904]; bicellular tight junction assembly [GO:0070830]; cell-cell junction organization [GO:0045216]; cellular response to tumor necrosis factor [GO:0071356]; protein-containing complex assembly [GO:0065003]; regulation of bicellular tight junction assembly [GO:2000810]; response to interleukin-18 [GO:0070673]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=WT-OCLN, TM4(+); IsoId=Q16625-1; Sequence=Displayed; Name=2; Synonyms=OCLN-ex4del, TM4(-); IsoId=Q16625-2; Sequence=VSP_043877; Name=3; Synonyms=OCLN-ex7ext; IsoId=Q16625-3; Sequence=VSP_043879; Name=4; Synonyms=OCLN-ex3del, OCLN-ex3pdel; IsoId=Q16625-4; Sequence=VSP_043872; Name=5; Synonyms=OCLN-ex3-4del; IsoId=Q16625-5; Sequence=VSP_043872, VSP_043878; Name=6; Synonyms=OCLN-ex3p-9pdel; IsoId=Q16625-6; Sequence=VSP_043873, VSP_043875, VSP_043876; Name=7; Synonyms=OCLN-ex3p-7pdel; IsoId=Q16625-7; Sequence=VSP_043874, VSP_043876; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19017651, ECO:0000269|PubMed:19114660, ECO:0000269|PubMed:9175707}; Multi-pass membrane protein {ECO:0000255}. Cell junction, tight junction {ECO:0000269|PubMed:10523508, ECO:0000269|PubMed:19017651, ECO:0000269|PubMed:19114660, ECO:0000269|PubMed:19332538, ECO:0000269|PubMed:9175707}.


uniprotID: P0CE71
geneSymbol: OCM2
name: Putative oncomodulin-2
length: 109
go: ENSG00000135175;
sequence:
MSITDVLSADDIAAALQECQDPDTFEPQKFFQTSGLSKMSASQVKDVFRFIDNDQSGYLDEEELKFFLQKFESGARELTESETKSLMAAADNDGDGKIGAEEFQEMVHS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; regulation of cytosolic calcium ion concentration [GO:0051480]


uniprotID: Q96PU9
geneSymbol: ODF3
length: 254
go: ENSG00000177947;
name:
Outer dense fiber protein 3 (Outer dense fiber of sperm tails protein 3) (Sperm tail protein SHIPPO 1) (Transcript induced in spermiogenesis protein 50)

sequence:

opentargets:
cytoplasm [GO:0005737]; outer dense fiber [GO:0001520]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96PU9-1; Sequence=Displayed; Name=2; IsoId=Q96PU9-2; Sequence=VSP_027686, VSP_027687; Note=No experimental confirmation available.; Name=3; IsoId=Q96PU9-3; Sequence=VSP_054893; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Expressed in the cytoplasmic lobe of spermatids. {ECO:0000250}.


uniprotID: Q9NZT2
geneSymbol: OGFR
name: Opioid growth factor receptor (OGFr) (Protein 7-60) (Zeta-type opioid receptor)
length: 677
go: ENSG00000060491;
snps: rs6122313 rs6122315
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; opioid receptor activity [GO:0004985]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZT2-1; Sequence=Displayed; Name=2; IsoId=Q9NZT2-2; Sequence=VSP_004060; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=The OGF/OGFR complex is probably translocated to the nucleus.


uniprotID: Q02218
geneSymbol: OGDH
reactome: R-HSA-389661;R-HSA-71064;R-HSA-71403;
pdb: 3ERY;
length: 1023
go: ENSG00000105953;
drug: DB00157;DB00313;
snps: rs2070607
name:
2-oxoglutarate dehydrogenase, mitochondrial (EC 1.2.4.2) (2-oxoglutarate dehydrogenase complex component E1) (OGDC-E1) (Alpha-ketoglutarate dehydrogenase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; oxoglutarate dehydrogenase complex [GO:0045252]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; metal ion binding [GO:0046872]; oxoglutarate dehydrogenase (NAD+) activity [GO:0034602]; oxoglutarate dehydrogenase (succinyl-transferring) activity [GO:0004591]; thiamine pyrophosphate binding [GO:0030976]; 2-oxoglutarate metabolic process [GO:0006103]; cerebellar cortex development [GO:0021695]; generation of precursor metabolites and energy [GO:0006091]; glycolytic process [GO:0006096]; hippocampus development [GO:0021766]; histone succinylation [GO:0106077]; NADH metabolic process [GO:0006734]; olfactory bulb mitral cell layer development [GO:0061034]; pyramidal neuron development [GO:0021860]; striatum development [GO:0021756]; succinyl-CoA metabolic process [GO:0006104]; tangential migration from the subventricular zone to the olfactory bulb [GO:0022028]; thalamus development [GO:0021794]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q02218-1; Sequence=Displayed; Name=2; IsoId=Q02218-2; Sequence=VSP_042313; Note=Probably insensitive to calcium.; Name=3; IsoId=Q02218-3; Sequence=VSP_043628, VSP_043629; Note=No experimental confirmation available.; 

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


uniprotID: O60502
geneSymbol: OGA
pdb: 2YDQ;5M7R;5M7S;5M7T;5M7U;5TKE;5UHK;5UHL;5UHO;5UHP;5UN8;5UN9;5VVO;5VVT;5VVU;5VVV;5VVX;
length: 916
go: ENSG00000198408;
snps: rs3740421 rs17853930
name:
Protein O-GlcNAcase (OGA) (EC 3.2.1.169) (Beta-N-acetylglucosaminidase) (Beta-N-acetylhexosaminidase) (Beta-hexosaminidase) (Meningioma-expressed antigen 5) (N-acetyl-beta-D-glucosaminidase) (N-acetyl-beta-glucosaminidase) (Nuclear cytoplasmic O-GlcNAcase and acetyltransferase) (NCOAT)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity [GO:0102167]; [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity [GO:0102571]; [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity [GO:0102166]; beta-N-acetylglucosaminidase activity [GO:0016231]; hyalurononglucosaminidase activity [GO:0004415]; glycoprotein catabolic process [GO:0006516]; glycoprotein metabolic process [GO:0009100]; N-acetylglucosamine metabolic process [GO:0006044]; protein deglycosylation [GO:0006517]; protein O-linked glycosylation [GO:0006493]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60502-1; Sequence=Displayed; Name=2; IsoId=O60502-2; Sequence=VSP_020866, VSP_020869; Name=3; Synonyms=MGEA5s; IsoId=O60502-3; Sequence=VSP_020867, VSP_020868; Name=4; IsoId=O60502-4; Sequence=VSP_020866; 

location:
SUBCELLULAR LOCATION: Isoform 3: Nucleus {ECO:0000269|PubMed:11341771}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:11148210, ECO:0000269|PubMed:11341771, ECO:0000269|PubMed:11788610}.


uniprotID: Q8N543
geneSymbol: OGFOD1
pdb: 4NHX;4NHY;
length: 542
go: ENSG00000087263;
drug: DB00126;
snps: rs34883368
name:
Prolyl 3-hydroxylase OGFOD1 (EC 1.14.11.-) (2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1) (Termination and polyadenylation 1 homolog) (uS12 prolyl 3-hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nucleus [GO:0005634]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; peptidyl-proline 3-dioxygenase activity [GO:0031544]; peptidyl-proline dioxygenase activity [GO:0031543]; cell proliferation [GO:0008283]; peptidyl-proline hydroxylation [GO:0019511]; protein hydroxylation [GO:0018126]; regulation of translational termination [GO:0006449]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N543-1; Sequence=Displayed; Name=2; IsoId=Q8N543-2; Sequence=VSP_025852; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus. Note=Mainly nuclear. A portion relocalizes to cytoplasmic stress granules upon stress.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.


uniprotID: Q8NH56
geneSymbol: OR52N5
reactome: R-HSA-381753;
name: Olfactory receptor 52N5 (Olfactory receptor OR11-62)
length: 324
go: ENSG00000181009;
snps: rs12360738
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH54
geneSymbol: OR56A3
reactome: R-HSA-381753;
name: Olfactory receptor 56A3 (Olfactory receptor 56A6)
length: 315
snps: rs1840178
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9Y6K5
geneSymbol: OAS3
reactome: R-HSA-877300;R-HSA-909733;
pdb: 4S3N;
length: 1087
go: ENSG00000111331;
snps: rs1859330 rs1859330 rs1859330 rs12819767 rs45519442 rs2285933 rs16942374
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
2'-5'-oligoadenylate synthase 3 ((2-5')oligo(A) synthase 3) (2-5A synthase 3) (EC 2.7.7.84) (p100 OAS) (p100OAS)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 2'-5'-oligoadenylate synthetase activity [GO:0001730]; ATP binding [GO:0005524]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of viral genome replication [GO:0045071]; nucleobase-containing compound metabolic process [GO:0006139]; regulation of ribonuclease activity [GO:0060700]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9NPH6
geneSymbol: OBP2B
name: Odorant-binding protein 2b (Odorant-binding protein IIb) (OBPIIb)
length: 170
go: ENSG00000171102;
snps: rs11244035
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKTLFLGVTLGLAAALSFTLEEEDITGTWYVKAMVVDKDFPEDRRPRKVSPVKVTALGGGKLEATFTFMREDRCIQKKILMRKTEEPGKYSAYGGRKLMYLQELPRRDHYIFYCKDQHHGGLLHMGKLVGRNSDTNREALEEFKKLVQRKGLSEEDIFTPLQTGSCVPEH

opentargets:
extracellular region [GO:0005576]; odorant binding [GO:0005549]; small molecule binding [GO:0036094]; chemosensory behavior [GO:0007635]; sensory perception of smell [GO:0007608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Ba; IsoId=Q9NPH6-1; Sequence=Displayed; Name=Bb; IsoId=Q9NPH6-2; Sequence=VSP_003138; Name=Bg; IsoId=Q9NPH6-3; Sequence=VSP_003139; 


uniprotID: P11182
geneSymbol: DBT
reactome: R-HSA-389661;R-HSA-70895;
pdb: 1K8M;1K8O;1ZWV;2COO;3RNM;
length: 482
snps: rs12021720
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (EC 2.3.1.168) (52 kDa mitochondrial autoantigen of primary biliary cirrhosis) (Branched chain 2-oxo-acid dehydrogenase complex component E2) (BCOADC-E2) (Branched-chain alpha-keto acid dehydrogenase complex component E2) (BCKAD-E2) (BCKADE2) (Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex) (Dihydrolipoamide branched chain transacylase) (Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial alpha-ketoglutarate dehydrogenase complex [GO:0005947]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; acetyltransferase activity [GO:0016407]; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity [GO:0043754]; lipoic acid binding [GO:0031405]; ubiquitin protein ligase binding [GO:0031625]


uniprotID: Q9NY56
geneSymbol: OBP2A
pdb: 4RUN;
name: Odorant-binding protein 2a (Odorant-binding protein IIa) (OBPIIa)
length: 170
go: ENSG00000122136;
snps: rs3180357 rs55695858 rs3178137 rs2853652
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKTLFLGVTLGLAAALSFTLEEEDITGTWYVKAMVVDKDFPEDRRPRKVSPVKVTALGGGNLEATFTFMREDRCIQKKILMRKTEEPGKFSAYGGRKLIYLQELPGTDDYVFYCKDQRRGGLRYMGKLVGRNPNTNLEALEEFKKLVQHKGLSEEDIFMPLQTGSCVLEH

opentargets:
extracellular region [GO:0005576]; odorant binding [GO:0005549]; small molecule binding [GO:0036094]; response to stimulus [GO:0050896]; sensory perception of chemical stimulus [GO:0007606]; sensory perception of smell [GO:0007608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Aa; IsoId=Q9NY56-1; Sequence=Displayed; Name=Ab; IsoId=Q9NY56-2; Sequence=VSP_003136; Name=Ad; IsoId=Q9NY56-3; Sequence=VSP_003135; Name=Ag; IsoId=Q9NY56-4; Sequence=VSP_003137; 


uniprotID: Q5VST9
geneSymbol: OBSCN
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Obscurin (EC 2.7.11.1) (Obscurin-RhoGEF) (Obscurin-myosin light chain kinase) (Obscurin-MLCK)
length: 7968
go: ENSG00000154358;
pdb:
1V1C;2CR6;2DKU;2DM7;2E7B;2EDF;2EDH;2EDL;2EDQ;2EDR;2EDT;2EDW;2ENY;2EO1;2GQH;2MWC;2N56;2YZ8;4C4K;4RSV;4UOW;5TZM;

sequence:

opentargets:
cytosol [GO:0005829]; M band [GO:0031430]; myofibril [GO:0030016]; nuclear body [GO:0016604]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; ankyrin binding [GO:0030506]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; structural constituent of muscle [GO:0008307]; titin binding [GO:0031432]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]; positive regulation of apoptotic process [GO:0043065]; protein localization to M-band [GO:0036309]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; sarcomere organization [GO:0045214]

snps:
rs1771487 rs1771487 rs55950009 rs1757153 rs55760713 rs117147433 rs752906025 rs965007403 rs777214598 rs950055015 rs199523598 rs7532342 rs453140 rs56217040 rs55706639 rs750681123 rs545316651 rs1188721 rs1188722 rs3795783 rs1188697 rs3795785 rs437129 rs3795789 rs3795790 rs770177081 rs539154039 rs435776 rs1150912 rs1188732 rs369570923 rs11810627 rs4653942 rs199865640 rs1188729 rs3795800 rs3795801 rs570805670 rs373610 rs369909 rs3795809 rs867550675 rs1188710 rs500049 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=B, obscurin-MLCK giant kinase; IsoId=Q5VST9-1; Sequence=Displayed; Name=2; IsoId=Q5VST9-2; Sequence=VSP_018436; Name=3; Synonyms=unc-89-like; IsoId=Q5VST9-3; Sequence=VSP_018437, VSP_018438; Note=Lacks the kinase domain. Initially described as obscurin.; Name=4; IsoId=Q5VST9-5; Sequence=VSP_020086, VSP_020087; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q5VST9-6; Sequence=VSP_026970; 

location:
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:12527750}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:12527750}. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk (PubMed:12527750). Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells (PubMed:12527750).; SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:A2AAJ9}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:A2AAJ9}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:A2AAJ9}. Nucleus {ECO:0000250|UniProtKB:A2AAJ9}. Note=Colocalizes with CDH2 and ATP1B1 to the sarcolemma and to intercalating disks in cardiac muscles. Colocalizes with ATP1B1 to M line and Z line in cardiac muscles. {ECO:0000250|UniProtKB:A2AAJ9}.


uniprotID: Q9NX40
geneSymbol: OCIAD1
length: 245
go: ENSG00000109180;
opentargets: endosome [GO:0005768]; membrane [GO:0016020]; regulation of stem cell differentiation [GO:2000736]
location: SUBCELLULAR LOCATION: Endosome {ECO:0000250|UniProtKB:Q9CRD0}.
name:
OCIA domain-containing protein 1 (Ovarian cancer immunoreactive antigen domain containing 1) (Ovarian carcinoma immunoreactive antigen)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=Q9NX40-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9NX40-2; Sequence=VSP_027621, VSP_027622; Name=3; IsoId=Q9NX40-3; Sequence=VSP_027622; Name=4; IsoId=Q9NX40-4; Sequence=VSP_046212; Note=No experimental confirmation available.; 


uniprotID: Q56VL3
geneSymbol: OCIAD2
name: OCIA domain-containing protein 2 (Ovarian carcinoma immunoreactive antigen-like protein)
length: 154
go: ENSG00000145247;
opentargets: endosome [GO:0005768]; response to bacterium [GO:0009617]
snps: rs7676916
location: SUBCELLULAR LOCATION: Endosome {ECO:0000305}.
sequence:
MASASARGNQDKDAHFPPPSKQSLLFCPKSKLHIHRAEISKIMRECQEESFWKRALPFSLVSMLVTQGLVYQGYLAANSRFGSLPKVALAGLLGFGLGKVSYIGVCQSKFHFFEDQLRGAGFGPQHNRHCLLTCEECKIKHGLSEKGDSQPSAS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q56VL3-1; Sequence=Displayed; Name=2; IsoId=Q56VL3-2; Sequence=VSP_027626; 


uniprotID: Q9BQT8
geneSymbol: SLC25A21
reactome: R-HSA-71064;
name: Mitochondrial 2-oxodicarboxylate carrier (Solute carrier family 25 member 21)
length: 299
go: ENSG00000183032;
snps: rs17104991
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; alpha-ketoglutarate transmembrane transporter activity [GO:0015139]; lysine catabolic process [GO:0006554]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQT8-1; Sequence=Displayed; Name=2; IsoId=Q9BQT8-2; Sequence=VSP_046690; 


uniprotID: Q01968
geneSymbol: OCRL
reactome: R-HSA-1660499;R-HSA-1660514;R-HSA-1855183;R-HSA-1855204;R-HSA-194840;R-HSA-432722;R-HSA-8856828;
pdb: 2KIE;2QV2;3QBT;3QIS;4CMN;
name: Inositol polyphosphate 5-phosphatase OCRL-1 (EC 3.1.3.36) (Lowe oculocerebrorenal syndrome protein)
length: 901
go: ENSG00000122126;
sequence:

opentargets:
clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; Golgi stack [GO:0005795]; Golgi-associated vesicle [GO:0005798]; membrane [GO:0016020]; nucleus [GO:0005634]; phagocytic vesicle membrane [GO:0030670]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; GTPase activator activity [GO:0005096]; inositol phosphate phosphatase activity [GO:0052745]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; phosphatidylinositol phosphate 4-phosphatase activity [GO:0034596]; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity [GO:0043813]; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [GO:0004439]; Rac GTPase binding [GO:0048365]; cilium assembly [GO:0060271]; in utero embryonic development [GO:0001701]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; lipid metabolic process [GO:0006629]; membrane organization [GO:0061024]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; regulation of GTPase activity [GO:0043087]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

snps:
rs137853828 rs137853829 rs137853830 rs137853263 rs137853831 rs137853833 rs137853854 rs137853832 rs137853834 rs137853835 rs137853836 rs137853848 rs137853837 rs137853855 rs137853856 rs137853850 rs137853838 rs137853839 rs137853851 rs137853841 rs137853840 rs137853262 rs137853846 rs137853857 rs137853842 rs398123287 rs137853260 rs137853843 rs137853849 rs137853847 rs137853853 rs137853261 rs137853852 rs137853858 rs137853844 rs137853845 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q01968-1; Sequence=Displayed; Name=B; IsoId=Q01968-2; Sequence=VSP_002681; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:D3ZGS3}. Early endosome membrane {ECO:0000269|PubMed:25869668}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:25869668}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:22543976}. Cell projection, cilium {ECO:0000269|PubMed:22543976}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:D3ZGS3}. Endosome {ECO:0000269|PubMed:25869668}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:D3ZGS3}. Note=Also found on macropinosomes. {ECO:0000269|PubMed:25869668}.


uniprotID: Q9BR26
geneSymbol: OCSTAMP
name: Osteoclast stimulatory transmembrane protein (OC-STAMP)
length: 566
go: ENSG00000149635;
snps: rs847079
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; cellular response to estrogen stimulus [GO:0071391]; cellular response to tumor necrosis factor [GO:0071356]; multinuclear osteoclast differentiation [GO:0072674]; positive regulation of macrophage fusion [GO:0034241]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of osteoclast proliferation [GO:0090290]


uniprotID: Q2M2E3
geneSymbol: ODF4
length: 257
go: ENSG00000184650;
snps: rs12943505 rs12601097 rs12936935
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Outer dense fiber protein 4 (Outer dense fiber of sperm tails protein 4) (Testis-specific protein oppo 1) (hOPPO1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]


uniprotID: Q5THK1
geneSymbol: PRR14L
name: Protein PRR14L (Proline rich 14-like protein)
length: 2151
go: ENSG00000183530;
sequence:

snps:
rs140081 rs140080 rs17821493 rs140079 rs9619227 rs12159328 rs140078 rs61461793 rs3804090 rs16989427 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5THK1-1; Sequence=Displayed; Name=2; IsoId=Q5THK1-2; Sequence=VSP_027048; Note=No experimental confirmation available.; Name=3; IsoId=Q5THK1-3; Sequence=VSP_027046, VSP_027047; Note=No experimental confirmation available.; Name=4; IsoId=Q5THK1-4; Sequence=VSP_027049; Note=No experimental confirmation available.; 


uniprotID: O75665
geneSymbol: OFD1
name: Oral-facial-digital syndrome 1 protein (Protein 71-7A)
length: 1012
go: ENSG00000046651;
snps: rs312262812 rs312262814 rs312262827 rs886039860 rs122460150
reactome:
R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5610787;R-HSA-5620912;R-HSA-8854518;

sequence:

opentargets:
centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; alpha-tubulin binding [GO:0043014]; gamma-tubulin binding [GO:0043015]; identical protein binding [GO:0042802]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ODF1a; IsoId=O75665-1; Sequence=Displayed; Name=2; Synonyms=ODF1b; IsoId=O75665-2; Sequence=VSP_004177, VSP_004178; Name=3; IsoId=O75665-3; Sequence=VSP_023334; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:12595504, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20230748, ECO:0000269|PubMed:26643951}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17761535}. Nucleus {ECO:0000269|PubMed:17761535}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24121310, ECO:0000269|PubMed:26643951}. Note=Localizes to centriole distal ends and to centriolar satellites (PubMed:20230748, PubMed:24121310). Localization to centrioles and pericentriolar satellites may be mediated by KIAA0753/OFIP (PubMed:26643951). {ECO:0000269|PubMed:26643951}.


uniprotID: Q9P242
geneSymbol: NYAP2
name: Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2
length: 653
go: ENSG00000144460;
snps: rs7422680 rs3748993
sequence:

opentargets:
intracellular [GO:0005622]; neuron projection morphogenesis [GO:0048812]; phosphatidylinositol 3-kinase signaling [GO:0014065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P242-1; Sequence=Displayed; Name=2; IsoId=Q9P242-2; Sequence=VSP_032432, VSP_032433; Name=3; IsoId=Q9P242-3; Sequence=VSP_032431, VSP_032434, VSP_032435; 


uniprotID: A6NIJ9
geneSymbol: OR6C70
reactome: R-HSA-381753;
name: Olfactory receptor 6C70
length: 312
snps: rs10747756 rs60683621
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGK2
geneSymbol: OR52B4
name: Olfactory receptor 52B4 (Olfactory receptor OR11-3)
length: 314
snps: rs11031961
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]; cognition [GO:0050890]


uniprotID: Q5VZ03
geneSymbol: NXNL2
name: Nucleoredoxin-like protein 2 (Rod-derived cone viability factor 2) (RdCVF2)
length: 156
go: ENSG00000130045;
snps: rs17852066
sequence:
MVDILGERHLVTCKGATVEAEAALQNKVVALYFAAARCAPSRDFTPLLCDFYTALVAEARRPAPFEVVFVSADGSSQEMLDFMRELHGAWLALPFHDPYRHELRKRYNVTAIPKLVIVKQNGEVITNKGRKQIRERGLACFQDWVEAADIFQNFSV

opentargets:
photoreceptor cell maintenance [GO:0045494]; sensory perception of smell [GO:0007608]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZ03-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5VZ03-3; Sequence=VSP_039844; Note=No experimental confirmation available.; 


uniprotID: Q8NGJ2
geneSymbol: OR52H1
reactome: R-HSA-381753;
name: Olfactory receptor 52H1 (Olfactory receptor OR11-45)
length: 320
go: ENSG00000181616;
snps: rs56291963 rs2254076 rs10769054 rs1566275 rs1995157 rs1995158 rs7934354
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGK6
geneSymbol: OR52I1
reactome: R-HSA-381753;
name: Olfactory receptor 52I1 (Olfactory receptor OR11-13)
length: 324
go: ENSG00000232268;
snps: rs2010722
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH67
geneSymbol: OR52I2
reactome: R-HSA-381753;
name: Olfactory receptor 52I2 (Olfactory receptor OR11-12)
length: 350
go: ENSG00000226288;
snps: rs7128702 rs12793957 rs1847632 rs7947426 rs7947432
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH64
geneSymbol: OR51A7
reactome: R-HSA-381753;
name: Olfactory receptor 51A7 (Olfactory receptor OR11-27)
length: 312
go: ENSG00000176895;
snps: rs11034596 rs7108225 rs7108654
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGH6
geneSymbol: OR52L2P
reactome: R-HSA-381753;
name: Putative olfactory receptor 52L2 (Olfactory receptor OR11-74)
length: 319
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGK5
geneSymbol: OR52M1
reactome: R-HSA-381753;
name: Olfactory receptor 52M1 (Olfactory receptor OR11-11)
length: 317
go: ENSG00000197790;
snps: rs7112010 rs2657167
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGI2
geneSymbol: OR52N4
reactome: R-HSA-381753;
name: Olfactory receptor 52N4 (Olfactory receptor OR11-64)
length: 321
go: ENSG00000181074;
snps: rs7936512 rs7394584 rs12363178 rs7396938
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGI3
geneSymbol: OR56B1
reactome: R-HSA-381753;
name: Olfactory receptor 56B1 (Olfactory receptor OR11-65)
length: 324
snps: rs7397032
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P54368
geneSymbol: OAZ1
reactome: R-HSA-350562;
pdb: 4ZGY;4ZGZ;5BWA;
name: Ornithine decarboxylase antizyme 1 (AZ1) (ODC-Az)
length: 228
go: ENSG00000104904;
drug: DB00129;
snps: rs4667 rs28359762 rs28384673 rs2230749 rs28384677
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ornithine decarboxylase inhibitor activity [GO:0008073]; negative regulation of polyamine transmembrane transport [GO:1902268]; polyamine biosynthetic process [GO:0006596]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of protein catabolic process [GO:0045732]; regulation of cellular amino acid metabolic process [GO:0006521]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=A ribosomal frameshift occurs between the codons for Ser-68 and Asp-69. An autoregulatory mechanism enables modulation of frameshifting according to the cellular concentration of polyamines. {ECO:0000250|UniProtKB:P54370}; Name=1; IsoId=P54368-1; Sequence=Displayed; 


uniprotID: Q96MR7
geneSymbol: OBSCN-AS1
name: Putative uncharacterized protein OBSCN-AS1 (OBSCN antisense RNA 1) (OBSCN antisense gene protein 1)
length: 158
sequence:
MYTASSSAETLRTVRRRSVPSSSMPYLALAHNRVSSLNHAASVDGWGTSHRNVADSFSRTSRSCSRFLKGTAGSARREDWNGHLQPWIPRPDRRGWETADRKGERTQVHGLRRSLGPRAPHPGAHRALRPAQSCRSGPRGWTPCRCRGRGPTACRRGS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MR7-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; IsoId=Q96MR7-2; Sequence=VSP_024211, VSP_024212; Note=No experimental confirmation available.; 


uniprotID: Q9H607
geneSymbol: OCEL1
name: Occludin/ELL domain-containing protein 1
length: 264
go: ENSG00000099330;
snps: rs10425488 rs891203
sequence:


uniprotID: A1E959
geneSymbol: ODAM
reactome: R-HSA-977225;
name: Odontogenic ameloblast-associated protein (Apin)
length: 279
go: ENSG00000109205;
snps: rs3196714
sequence:

opentargets:
cell periphery [GO:0071944]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; supramolecular fiber [GO:0099512]; biomineral tissue development [GO:0031214]; cellular protein metabolic process [GO:0044267]; inflammatory response [GO:0006954]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; positive regulation of gene expression [GO:0010628]; positive regulation of GTPase activity [GO:0043547]; positive regulation of protein phosphorylation [GO:0001934]; regulation of actin cytoskeleton organization [GO:0032956]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q3HS83}. Cytoplasm {ECO:0000269|PubMed:25911094}. Nucleus {ECO:0000269|PubMed:25911094}.


uniprotID: A8MYP8
geneSymbol: ODF3B
name: Outer dense fiber protein 3B (Outer dense fiber protein 3-like protein 3)
length: 253
go: ENSG00000177989;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8MYP8-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=A8MYP8-2; Sequence=VSP_034995, VSP_034996, VSP_034997; Note=No experimental confirmation available.; 


uniprotID: Q9UHK0
geneSymbol: NUFIP1
pdb: 5L85;
name: Nuclear fragile X mental retardation-interacting protein 1 (Nuclear FMRP-interacting protein 1)
length: 495
go: ENSG00000083635;
snps: rs1140993
sequence:

opentargets:
fibrillar center [GO:0001650]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perichromatin fibrils [GO:0005726]; pre-snoRNP complex [GO:0070761]; presynaptic active zone [GO:0048786]; protein-containing complex [GO:0032991]; transcription elongation factor complex [GO:0008023]; ATPase binding [GO:0051117]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein binding, bridging [GO:0030674]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; box C/D snoRNP assembly [GO:0000492]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein complex oligomerization [GO:0051259]; RNA processing [GO:0006396]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10556305}. Note=Distributed in the nucleus in a dot-like pattern.


uniprotID: P58182
geneSymbol: OR12D2
reactome: R-HSA-381753;
name: Olfactory receptor 12D2 (Hs6M1-20) (Olfactory receptor OR6-28)
length: 307
go: ENSG00000280236;
snps: rs9257834 rs4987411 rs3128853 rs2073154 rs2073153 rs2073152 rs11752608 rs2073151
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P52948
geneSymbol: NUP98
pdb: 1KO6;2Q5X;2Q5Y;3MMY;4OWR;5A9Q;6BZM;
length: 1817
go: ENSG00000110713;
name:
Nuclear pore complex protein Nup98-Nup96 (EC 3.4.21.-) [Cleaved into: Nuclear pore complex protein Nup98 (98 kDa nucleoporin) (Nucleoporin Nup98) (Nup98); Nuclear pore complex protein Nup96 (96 kDa nucleoporin) (Nucleoporin Nup96) (Nup96)]

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; nuclear envelope [GO:0005635]; nuclear inclusion body [GO:0042405]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; nuclear pore cytoplasmic filaments [GO:0044614]; nuclear pore nuclear basket [GO:0044615]; nuclear pore outer ring [GO:0031080]; nucleoplasm [GO:0005654]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; nuclear localization sequence binding [GO:0008139]; promoter-specific chromatin binding [GO:1990841]; RNA binding [GO:0003723]; serine-type peptidase activity [GO:0008236]; structural constituent of nuclear pore [GO:0017056]; transcription coactivator activity [GO:0003713]; transporter activity [GO:0005215]; DNA replication [GO:0006260]; mRNA export from nucleus [GO:0006406]; nuclear pore complex assembly [GO:0051292]; nuclear pore organization [GO:0006999]; nucleocytoplasmic transport [GO:0006913]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery [GO:0000973]; protein import into nucleus [GO:0006606]; RNA export from nucleus [GO:0006405]; telomere tethering at nuclear periphery [GO:0034398]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Nup98-Nup96 precursor; IsoId=P52948-1; Sequence=Displayed; Name=2; Synonyms=Nup98-Nup96 precursor splice variant 1; IsoId=P52948-2; Sequence=VSP_003619, VSP_007944; Name=3; Synonyms=Nup98-specific 1; IsoId=P52948-3; Sequence=VSP_007942, VSP_007943; Name=4; IsoId=P52948-4; Sequence=VSP_003619, VSP_007942, VSP_007943; Name=5; Synonyms=Nup196, ADIR2; IsoId=P52948-5; Sequence=VSP_003619; Name=6; IsoId=P52948-6; Sequence=VSP_038328; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:10087256, ECO:0000269|PubMed:11106761, ECO:0000269|PubMed:11839768, ECO:0000269|PubMed:12191480, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:20407419, ECO:0000269|PubMed:28221134}; Peripheral membrane protein; Nucleoplasmic side {ECO:0000269|PubMed:11839768}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:11839768, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:15229283}. Nucleus, nucleoplasm {ECO:0000269|PubMed:12191480, ECO:0000269|PubMed:28221134}. Note=Localized to the nucleoplasmic side of the nuclear pore complex (NPC), at or near the nucleoplasmic basket (PubMed:11839768). Dissociates from the dissasembled NPC structure early during prophase of mitosis (PubMed:12802065). Colocalized with NUP153 and TPR to the nuclear basket of NPC (PubMed:11839768). Colocalized with DHX9 in diffuse and discrete intranuclear foci (GLFG-body) (PubMed:11839768, PubMed:28221134). Remains localized to the nuclear membrane after poliovirus (PV) infection (PubMed:11106761). {ECO:0000269|PubMed:11106761, ECO:0000269|PubMed:11839768, ECO:0000269|PubMed:12802065, ECO:0000269|PubMed:28221134}.


uniprotID: Q8NH01
geneSymbol: OR2T11
reactome: R-HSA-381753;
name: Olfactory receptor 2T11 (Olfactory receptor OR1-65)
length: 316
snps: rs1892443 rs1892442
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF4
geneSymbol: OR5AP2
reactome: R-HSA-381753;
name: Olfactory receptor 5AP2
length: 316
snps: rs11606499
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH02
geneSymbol: OR2T29
reactome: R-HSA-381753;
name: Olfactory receptor 2T29
length: 315
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NGY5
geneSymbol: OR51F1
reactome: R-HSA-381753;
name: Olfactory receptor 51F1
length: 319
go: ENSG00000280021;
snps: rs17324812 rs11033801 rs11033800 rs16938368 rs11033793 rs1030723 rs17324609 rs1030726
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NDH6
geneSymbol: OR5H15
reactome: R-HSA-381753;
name: Olfactory receptor 5H15
length: 313
snps: rs4133320 rs4133321 rs4133322
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS4
geneSymbol: OR13F1
reactome: R-HSA-381753;
name: Olfactory receptor 13F1 (Olfactory receptor OR9-6)
length: 319
snps: rs7049042 rs7018553 rs1403812 rs1403811 rs7030820 rs7847413
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; adrenergic receptor activity [GO:0004935]; dopamine binding [GO:0035240]; dopamine neurotransmitter receptor activity, coupled via Gi/Go [GO:0001591]; olfactory receptor activity [GO:0004984]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:0007195]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; behavioral response to cocaine [GO:0048148]; regulation of dopamine secretion [GO:0014059]; response to drug [GO:0042493]; synaptic transmission, dopaminergic [GO:0001963]


uniprotID: Q9H344
geneSymbol: OR51I2
reactome: R-HSA-381753;
name: Olfactory receptor 51I2 (Odorant receptor HOR5'beta12) (Olfactory receptor OR11-38)
length: 312
go: ENSG00000187918;
snps: rs10450603 rs12577167 rs16931292 rs11037502
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGE3
geneSymbol: OR10P1
reactome: R-HSA-381753;
length: 313
go: ENSG00000175398;
snps: rs10876838 rs7970885
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 10P1 (Olfactory receptor 10P2) (Olfactory receptor 10P3) (Olfactory receptor OR12-7)

sequence:


uniprotID: Q8NGX3
geneSymbol: OR10T2
reactome: R-HSA-381753;
name: Olfactory receptor 10T2 (Olfactory receptor OR1-3)
length: 314
snps: rs6660222 rs41488350 rs6662597 rs6662382 rs12062580 rs6692949
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NHC7
geneSymbol: OR14C36
reactome: R-HSA-381753;
name: Olfactory receptor 14C36 (Olfactory receptor 5BF1) (Olfactory receptor OR1-59)
length: 312
go: ENSG00000177174;
snps: rs28448343 rs28377739 rs28545014
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NHC6
geneSymbol: OR14L1P
reactome: R-HSA-381753;
name: Putative olfactory receptor 14L1 (Putative olfactory receptor 5AV1)
length: 308
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IFG1
geneSymbol: OR52E8
reactome: R-HSA-381753;
name: Olfactory receptor 52E8 (Olfactory receptor OR11-54)
length: 317
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGJ7
geneSymbol: OR51A2
reactome: R-HSA-381753;
name: Olfactory receptor 51A2
length: 313
snps: rs28482315 rs112749434 rs2442426 rs2570573
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGJ6
geneSymbol: OR51A4
reactome: R-HSA-381753;
name: Olfactory receptor 51A4
length: 313
go: ENSG00000205497;
snps: rs3845246 rs2412467 rs2595988 rs2442426 rs2436782
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P00973
geneSymbol: OAS1
reactome: R-HSA-877300;R-HSA-909733;
pdb: 4IG8;
length: 400
go: ENSG00000089127;
drug: DB02987;
snps: rs1050994 rs4767022 rs1131454 rs1131476 rs35919998 rs1051042
name:
2'-5'-oligoadenylate synthase 1 ((2-5')oligo(A) synthase 1) (2-5A synthase 1) (EC 2.7.7.84) (E18/E16) (p46/p42 OAS)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 2'-5'-oligoadenylate synthetase activity [GO:0001730]; ATP binding [GO:0005524]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; cellular response to interferon-alpha [GO:0035457]; defense response to virus [GO:0051607]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of viral genome replication [GO:0045071]; protein complex oligomerization [GO:0051259]; purine nucleotide biosynthetic process [GO:0006164]; regulation of ribonuclease activity [GO:0060700]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=p46; Synonyms=46 kDa, E18; IsoId=P00973-1; Sequence=Displayed; Name=p41; Synonyms=41 kDa, E16, 3-9; IsoId=P00973-2; Sequence=VSP_003738, VSP_003739; Name=p48; Synonyms=9-2; IsoId=P00973-3; Sequence=VSP_003740; Name=p44; IsoId=P00973-4; Sequence=VSP_027804, VSP_027805; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19923450, ECO:0000269|PubMed:3753689, ECO:0000269|PubMed:3754863}. Mitochondrion {ECO:0000269|PubMed:19923450}. Nucleus {ECO:0000269|PubMed:19923450, ECO:0000269|PubMed:3753689}. Microsome {ECO:0000269|PubMed:19923450}. Endoplasmic reticulum {ECO:0000269|PubMed:19923450}. Secreted {ECO:0000250}. Note=Associated with different subcellular fractions such as mitochondrial, nuclear, and rough/smooth microsomal fractions. {ECO:0000269|PubMed:19923450}.


uniprotID: Q8NGH5
geneSymbol: OR56A1
reactome: R-HSA-381753;
name: Olfactory receptor 56A1 (Olfactory receptor OR11-75)
length: 318
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O60828
geneSymbol: PQBP1
reactome: R-HSA-72163;
pdb: 4BWQ;4BWS;4CDO;
length: 265
go: ENSG00000102103;
snps: rs121917899 rs878853145
name:
Polyglutamine-binding protein 1 (PQBP-1) (38 kDa nuclear protein containing a WW domain) (Npw38) (Polyglutamine tract-binding protein 1)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; neuronal ribonucleoprotein granule [GO:0071598]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; ribonucleoprotein complex binding [GO:0043021]; transcription coactivator activity [GO:0003713]; activation of innate immune response [GO:0002218]; alternative mRNA splicing, via spliceosome [GO:0000380]; cellular response to exogenous dsRNA [GO:0071360]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; mRNA splicing, via spliceosome [GO:0000398]; neuron projection development [GO:0031175]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of type I interferon production [GO:0032481]; regulation of dendrite morphogenesis [GO:0048814]; regulation of RNA splicing [GO:0043484]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=PQBP-1; IsoId=O60828-1; Sequence=Displayed; Name=2; IsoId=O60828-2; Sequence=VSP_015909; Name=3; Synonyms=PQBP-1b/c; IsoId=O60828-3; Sequence=VSP_015908, VSP_015910; Name=4; Synonyms=PQBP-1d; IsoId=O60828-4; Sequence=VSP_015903; Name=5; IsoId=O60828-5; Sequence=VSP_015900; Name=6; IsoId=O60828-6; Sequence=VSP_015906, VSP_015907; Name=7; IsoId=O60828-7; Sequence=VSP_015904, VSP_015905; Name=8; Synonyms=PQBP-1a; IsoId=O60828-8; Sequence=VSP_015896, VSP_015902; Name=9; IsoId=O60828-9; Sequence=VSP_015899, VSP_015901; Name=10; IsoId=O60828-10; Sequence=VSP_015897, VSP_015898; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10198427, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:23512658}. Nucleus speckle {ECO:0000250|UniProtKB:Q91VJ5}. Cytoplasmic granule {ECO:0000269|PubMed:21933836}. Note=Colocalizes with SRSF2 in nuclear speckles (By similarity). Colocalized with POU3F2 (PubMed:10332029). Colocalized with ATXN1 in nuclear inclusion bodies (PubMed:12062018). Localizes to cytoplasmic stress granules (PubMed:21933836). {ECO:0000250|UniProtKB:Q91VJ5, ECO:0000269|PubMed:10332029, ECO:0000269|PubMed:12062018, ECO:0000269|PubMed:21933836}.


uniprotID: Q8N755
geneSymbol: PQLC3
name: PQ-loop repeat-containing protein 3
length: 202
go: ENSG00000162976;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N755-1; Sequence=Displayed; Name=2; IsoId=Q8N755-2; Sequence=VSP_054623; Note=No experimental confirmation available.; 


uniprotID: O15243
geneSymbol: LEPROT
length: 131
go: ENSG00000213625;
name:
Leptin receptor gene-related protein (Endospanin-1) (Leptin receptor overlapping transcript protein) (OB-R gene-related protein) (OB-RGRP)

sequence:
MAGVKALVALSFSGAIGLTFLMLGCALEDYGVYWPLFVLIFHAISPIPHFIAKRVTYDSDATSSACRELAYFFTTGIVVSAFGFPVILARVAVIKWGACGLVLAGNAVIFLTIQGFFLIFGRGDDFSWEQW

opentargets:
endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; late endosome to vacuole transport via multivesicular body sorting pathway [GO:0032511]; negative regulation of growth hormone receptor signaling pathway [GO:0060400]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of protein localization to cell surface [GO:2000009]; positive regulation of protein targeting to mitochondrion [GO:1903955]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endosome membrane {ECO:0000250}.


uniprotID: P49757
geneSymbol: NUMB
reactome: R-HSA-2122948;R-HSA-437239;R-HSA-5610780;R-HSA-5632684;
pdb: 5NJJ;5NJK;
name: Protein numb homolog (h-Numb) (Protein S171)
length: 651
go: ENSG00000133961;
snps: rs17182272 rs17781919
location: SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
sequence:

opentargets:
apical part of cell [GO:0045177]; basolateral plasma membrane [GO:0016323]; clathrin-coated vesicle [GO:0030136]; early endosome [GO:0005769]; extrinsic component of plasma membrane [GO:0019897]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; alpha-catenin binding [GO:0045294]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; adherens junction organization [GO:0034332]; axonogenesis [GO:0007409]; lateral ventricle development [GO:0021670]; negative regulation of protein localization to plasma membrane [GO:1903077]; neuroblast division in subventricular zone [GO:0021849]; positive regulation of cell migration [GO:0030335]; positive regulation of neurogenesis [GO:0050769]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=p72; IsoId=P49757-1; Sequence=Displayed; Name=2; Synonyms=p66; IsoId=P49757-2; Sequence=VSP_004349; Name=3; Synonyms=p71; IsoId=P49757-3; Sequence=VSP_004348; Name=4; Synonyms=p65; IsoId=P49757-4; Sequence=VSP_004348, VSP_004349; Name=5; IsoId=P49757-5; Sequence=VSP_047756, VSP_004349; Name=6; IsoId=P49757-6; Sequence=VSP_004348, VSP_047756, VSP_004349; Name=7; IsoId=P49757-7; Sequence=VSP_047756, VSP_053763, VSP_004349; Name=8; IsoId=P49757-8; Sequence=VSP_004348, VSP_047756, VSP_053763, VSP_004349; Name=9; IsoId=P49757-9; Sequence=VSP_053745, VSP_004349; 


uniprotID: Q99567
geneSymbol: NUP88
name: Nuclear pore complex protein Nup88 (88 kDa nucleoporin) (Nucleoporin Nup88)
length: 741
go: ENSG00000108559;
snps: rs1806245
location: SUBCELLULAR LOCATION: Nucleus, nuclear pore complex.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; structural constituent of nuclear pore [GO:0017056]; transporter activity [GO:0005215]; mitotic cell cycle [GO:0000278]; mRNA export from nucleus [GO:0006406]; protein export from nucleus [GO:0006611]; protein import into nucleus [GO:0006606]; ribosomal large subunit export from nucleus [GO:0000055]; ribosomal small subunit export from nucleus [GO:0000056]; viral process [GO:0016032]


uniprotID: O95157
geneSymbol: NXPH3
name: Neurexophilin-3
length: 252
go: ENSG00000182575;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

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


uniprotID: Q8NG84
geneSymbol: OR2AK2
reactome: R-HSA-381753;
name: Olfactory receptor 2AK2 (Olfactory receptor 2AK1) (Olfactory receptor OR1-47)
length: 335
go: ENSG00000187080;
snps: rs6664332 rs4478844
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGR1
geneSymbol: OR13A1
reactome: R-HSA-381753;
name: Olfactory receptor 13A1 (Olfactory receptor OR10-3)
length: 328
go: ENSG00000256574;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O60403
geneSymbol: OR10H2
reactome: R-HSA-381753;
name: Olfactory receptor 10H2 (Olfactory receptor OR19-23)
length: 315
go: ENSG00000171942;
snps: rs4569397 rs1806931
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0C629
geneSymbol: OR10J4
reactome: R-HSA-381753;
name: Olfactory receptor 10J4
length: 311
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NCV1
geneSymbol: OR6C74
reactome: R-HSA-381753;
name: Olfactory receptor 6C74
length: 312
snps: rs7301705 rs11171388 rs4388990 rs6581025 rs4321039
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH59
geneSymbol: OR51Q1
reactome: R-HSA-381753;
name: Olfactory receptor 51Q1
length: 317
snps: rs10838092 rs10838093 rs10838094 rs10838095 rs2736586 rs2647573
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGJ9
geneSymbol: OR51T1
reactome: R-HSA-381753;
name: Olfactory receptor 51T1 (Olfactory receptor OR11-26)
length: 327
go: ENSG00000176900;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGL6
geneSymbol: OR4A15
reactome: R-HSA-381753;
name: Olfactory receptor 4A15 (Olfactory receptor OR11-118)
length: 344
go: ENSG00000181958;
snps: rs1425193 rs7927370
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGI7
geneSymbol: OR10V1
reactome: R-HSA-381753;
name: Olfactory receptor 10V1 (Olfactory receptor OR11-256)
length: 309
snps: rs472177 rs499033
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9GZU5
geneSymbol: NYX
name: Nyctalopin
length: 481
go: ENSG00000188937;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; intracellular [GO:0005622]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

snps:
rs62637020 rs62637023 rs62637024 rs62637025 rs62637026 rs62637027 rs62637028 rs62637030 rs62637032 rs62637033 rs62637034 rs62637035 rs62637036 rs62637038 rs34169326 


uniprotID: O95013
geneSymbol: OR4F21
reactome: R-HSA-381753;
name: Olfactory receptor 4F21
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGH7
geneSymbol: OR52L1
reactome: R-HSA-381753;
name: Olfactory receptor 52L1 (Olfactory receptor OR11-50)
length: 329
snps: rs4501959 rs4436525 rs4436524 rs4354673 rs4237768
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O15381
geneSymbol: NVL
pdb: 2X8A;
name: Nuclear valosin-containing protein-like (NVLp) (Nuclear VCP-like protein)
length: 856
go: ENSG00000143748;
snps: rs12084919 rs34631151
sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; preribosome binding [GO:1990275]; RNA binding [GO:0003723]; positive regulation of protein binding [GO:0032092]; positive regulation of telomerase activity [GO:0051973]; regulation of protein localization to nucleolus [GO:1904749]; ribosomal large subunit biogenesis [GO:0042273]; ribosome biogenesis [GO:0042254]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=NVLp.2; IsoId=O15381-1; Sequence=Displayed; Name=2; Synonyms=NVLp.1; IsoId=O15381-2; Sequence=VSP_007771; Name=3; IsoId=O15381-3; Sequence=VSP_007771, VSP_007772; Note=No experimental confirmation available.; Name=4; IsoId=O15381-4; Sequence=VSP_045334, VSP_045335; Name=5; IsoId=O15381-5; Sequence=VSP_007772; 

location:
SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleoplasm {ECO:0000269|PubMed:15469983}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:15469983, ECO:0000269|PubMed:22226966, ECO:0000269|PubMed:26456651, ECO:0000269|PubMed:9286697}. Nucleus, nucleoplasm {ECO:0000269|PubMed:15469983}. Note=Expressed predominantly in the nucleolus. Associates with pre-ribosomal particles in the nucleus. {ECO:0000269|PubMed:16782053}.


uniprotID: Q96R47
geneSymbol: OR2A14
reactome: R-HSA-381753;
name: Olfactory receptor 2A14 (OST182) (Olfactory receptor 2A6) (Olfactory receptor OR7-12)
length: 310
snps: rs2961160 rs2961161
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A4D2G3
geneSymbol: OR2A25
reactome: R-HSA-381753;
name: Olfactory receptor 2A25 (Olfactory receptor 2A27)
length: 310
snps: rs6951485 rs2961135
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN6
geneSymbol: OR10G7
reactome: R-HSA-381753;
name: Olfactory receptor 10G7 (Olfactory receptor OR11-283)
length: 311
go: ENSG00000182634;
snps: rs3894197 rs11827843 rs3894198 rs3894199 rs11219420 rs470208 rs513591
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NG76
geneSymbol: OR2T33
reactome: R-HSA-381753;
name: Olfactory receptor 2T33 (Olfactory receptor OR1-56)
length: 320
go: ENSG00000177212;
snps: rs10888338
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS7
geneSymbol: OR13C8
reactome: R-HSA-381753;
name: Olfactory receptor 13C8
length: 320
go: ENSG00000186943;
snps: rs7026705
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGT2
geneSymbol: OR13J1
reactome: R-HSA-381753;
name: Olfactory receptor 13J1 (Olfactory receptor OR9-2)
length: 312
snps: rs7044405
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGJ8
geneSymbol: OR51S1
reactome: R-HSA-381753;
name: Olfactory receptor 51S1 (Olfactory receptor OR11-24)
length: 323
go: ENSG00000176922;
snps: rs12417164 rs11602499 rs7117260 rs12361955
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NHC5
geneSymbol: OR14A16
reactome: R-HSA-381753;
name: Olfactory receptor 14A16 (Olfactory receptor 5AT1) (Olfactory receptor OR1-45)
length: 309
go: ENSG00000196772;
snps: rs6695283
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGB8
geneSymbol: OR4F15
reactome: R-HSA-381753;
name: Olfactory receptor 4F15 (Olfactory receptor OR15-14)
length: 312
go: ENSG00000182854;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGJ4
geneSymbol: OR52E2
reactome: R-HSA-381753;
name: Olfactory receptor 52E2
length: 325
snps: rs16909440 rs11035396 rs2500052
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9Y5P1
geneSymbol: OR51B2
reactome: R-HSA-381753;
name: Olfactory receptor 51B2 (Odorant receptor HOR5'beta3) (Olfactory receptor 51B1)
length: 312
snps: rs7952293 rs10837814 rs7937237 rs11036815 rs11036814
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF1
geneSymbol: OR52R1
reactome: R-HSA-381753;
name: Olfactory receptor 52R1 (Olfactory receptor OR11-22)
length: 315
snps: rs17327254 rs7941731 rs6578533 rs2053116
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0C646
geneSymbol: OR52Z1
reactome: R-HSA-381753;
name: Olfactory receptor 52Z1
length: 298
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9UMX2
geneSymbol: OAZ3
reactome: R-HSA-350562;
name: Ornithine decarboxylase antizyme 3 (AZ3) (ODC-Az 3)
length: 235
go: ENSG00000143450;
drug: DB00129;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm {ECO:0000250}.
sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ornithine decarboxylase inhibitor activity [GO:0008073]; putrescine transmembrane transporter activity [GO:0015489]; negative regulation of polyamine transmembrane transport [GO:1902268]; polyamine biosynthetic process [GO:0006596]; positive regulation of protein catabolic process [GO:0045732]; regulation of cellular amino acid metabolic process [GO:0006521]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Ribosomal frameshifting; Named isoforms=2;  Comment=A ribosomal frameshift occurs between the codons for Ser-76 and Glu-77. An autoregulatory mechanism enables modulation of frameshifting according to the cellular concentration of polyamines.; Name=1; IsoId=Q9UMX2-1; Sequence=Displayed; Name=2; IsoId=Q9UMX2-2; Sequence=VSP_056789, VSP_056790, VSP_056791; Note=No experimental confirmation available.; 


uniprotID: Q9BW27
geneSymbol: NUP85
pdb: 5A9Q;
length: 656
go: ENSG00000125450;
name:
Nuclear pore complex protein Nup85 (85 kDa nucleoporin) (FROUNT) (Nucleoporin Nup75) (Nucleoporin Nup85) (Pericentrin-1)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore outer ring [GO:0031080]; nucleus [GO:0005634]; spindle [GO:0005819]; structural constituent of nuclear pore [GO:0017056]; lamellipodium assembly [GO:0030032]; macrophage chemotaxis [GO:0048246]; mRNA export from nucleus [GO:0006406]; positive regulation of transcription, DNA-templated [GO:0045893]; protein import into nucleus [GO:0006606]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BW27-1; Sequence=Displayed; Name=2; IsoId=Q9BW27-2; Sequence=VSP_056080, VSP_056081, VSP_056082; Note=No experimental confirmation available.; Name=3; IsoId=Q9BW27-3; Sequence=VSP_056079; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:12196509, ECO:0000269|PubMed:12718872}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:16807356}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16807356}. Cytoplasm {ECO:0000269|PubMed:15995708}. Nucleus membrane {ECO:0000269|PubMed:12196509}. Note=During mitosis, localizes to the kinetochores and spindle poles (PubMed:12718872, PubMed:16807356). Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells (PubMed:15995708). {ECO:0000269|PubMed:12718872, ECO:0000269|PubMed:15995708, ECO:0000269|PubMed:16807356}.


uniprotID: Q8NGX0
geneSymbol: OR11L1
reactome: R-HSA-381753;
name: Olfactory receptor 11L1
length: 322
snps: rs10888257 rs540891010 rs10888256 rs10888255
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; odorant binding [GO:0005549]; olfactory receptor activity [GO:0004984]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]


uniprotID: Q8NGN7
geneSymbol: OR10D4P
reactome: R-HSA-381753;
name: Putative olfactory receptor 10D4
length: 298
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H339
geneSymbol: OR51B5
reactome: R-HSA-381753;
name: Olfactory receptor 51B5 (Odorant receptor HOR5'beta5) (Olfactory receptor OR11-37)
length: 312
go: ENSG00000167355;
snps: rs11036913 rs57273781 rs57900141 rs11036912 rs12273630 rs4910551 rs7120319
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGN5
geneSymbol: OR10G8
reactome: R-HSA-381753;
name: Olfactory receptor 10G8 (Olfactory receptor OR11-282)
length: 311
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGZ9
geneSymbol: OR2T10
reactome: R-HSA-381753;
name: Olfactory receptor 2T10 (Olfactory receptor OR1-64)
length: 312
go: ENSG00000184022;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH89
geneSymbol: OR5AK3P
reactome: R-HSA-381753;
name: Putative olfactory receptor 5AK3
length: 298
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: P0C617
geneSymbol: OR5AL1
reactome: R-HSA-381753;
name: Olfactory receptor 5AL1 (Olfactory receptor OR11-184)
length: 328
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6ZVC0
geneSymbol: NYAP1
name: Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1
length: 841
go: ENSG00000166924;
sequence:

opentargets:
intracellular [GO:0005622]; neuron projection morphogenesis [GO:0048812]; phosphatidylinositol 3-kinase signaling [GO:0014065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZVC0-1; Sequence=Displayed; Name=2; IsoId=Q6ZVC0-2; Sequence=VSP_031746; 


uniprotID: Q8NHC4
geneSymbol: OR10J5
reactome: R-HSA-381753;
name: Olfactory receptor 10J5 (Olfactory receptor OR1-28)
length: 309
go: ENSG00000184155;
snps: rs35393723
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IFN5
geneSymbol: OR7E24
reactome: R-HSA-381753;
name: Olfactory receptor 7E24 (Olfactory receptor OR19-14)
length: 339
go: ENSG00000237521;
snps: rs12980833 rs2240928
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96R54
geneSymbol: OR14A2
reactome: R-HSA-381753;
name: Olfactory receptor 14A2 (Olfactory receptor 5AX1) (Olfactory receptor OR1-31)
length: 314
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A6NHA9
geneSymbol: OR4C46
reactome: R-HSA-381753;
name: Olfactory receptor 4C46
length: 309
go: ENSG00000185926;
snps: rs11246607 rs11246608 rs11246609
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6DKJ4
geneSymbol: NXN
name: Nucleoredoxin (EC 1.8.1.8)
length: 435
go: ENSG00000167693;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; protein-disulfide reductase activity [GO:0047134]; thioredoxin-disulfide reductase activity [GO:0004791]; cardiovascular system development [GO:0072358]; cell differentiation [GO:0030154]; cell redox homeostasis [GO:0045454]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of Wnt signaling pathway [GO:0030178]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6DKJ4-1; Sequence=Displayed; Name=2; IsoId=Q6DKJ4-2; Sequence=VSP_033392, VSP_033393, VSP_033394, VSP_033395; Note=No experimental confirmation available.; Name=3; IsoId=Q6DKJ4-3; Sequence=VSP_042792, VSP_042793; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P97346}. Nucleus {ECO:0000250|UniProtKB:P97346}.


uniprotID: Q6IF63
geneSymbol: OR52W1
reactome: R-HSA-381753;
name: Olfactory receptor 52W1 (Olfactory receptor OR11-71)
length: 320
go: ENSG00000175485;
snps: rs10839531 rs11040799 rs325609
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGH8
geneSymbol: OR56A4
reactome: R-HSA-381753;
name: Olfactory receptor 56A4 (Olfactory receptor OR11-49)
length: 313
go: ENSG00000183389;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q01453
geneSymbol: PMP22
name: Peripheral myelin protein 22 (PMP-22) (Growth arrest-specific protein 3) (GAS-3)
length: 160
go: ENSG00000109099;
sequence:
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE

opentargets:
bicellular tight junction [GO:0005923]; compact myelin [GO:0043218]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bleb assembly [GO:0032060]; cell death [GO:0008219]; chemical synaptic transmission [GO:0007268]; myelin assembly [GO:0032288]; myelination [GO:0042552]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron projection development [GO:0010977]; peripheral nervous system development [GO:0007422]

snps:
rs104894622 rs104894617 rs104894625 rs104894626 rs377335295 rs104894627 rs104894623 rs104894623 rs104894620 rs104894621 rs104894618 rs778693173 rs104894619 rs755551524 rs775019409 rs104894624 rs879253954 rs28936682 rs28936682 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21827951}; Multi-pass membrane protein {ECO:0000269|PubMed:21827951}.


uniprotID: Q9UL41
geneSymbol: PNMA3
name: Paraneoplastic antigen Ma3
length: 463
go: ENSG00000183837;
snps: rs36042591 rs35603712
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; positive regulation of apoptotic process [GO:0043065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL41-1; Sequence=Displayed; Name=2; IsoId=Q9UL41-2; Sequence=VSP_023571; 


uniprotID: Q15435
geneSymbol: PPP1R7
name: Protein phosphatase 1 regulatory subunit 7 (Protein phosphatase 1 regulatory subunit 22)
length: 360
go: ENSG00000115685;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; enzyme regulator activity [GO:0030234]; protein phosphatase regulator activity [GO:0019888]; positive regulation of protein dephosphorylation [GO:0035307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=sds22alpha1; IsoId=Q15435-1; Sequence=Displayed; Name=2; Synonyms=sds22alpha2; IsoId=Q15435-2; Sequence=VSP_019244; Name=3; Synonyms=sds22beta1; IsoId=Q15435-3; Sequence=VSP_019245, VSP_019246; Name=4; Synonyms=sds22beta2; IsoId=Q15435-4; Sequence=VSP_019244, VSP_019245, VSP_019246; Name=5; IsoId=Q15435-5; Sequence=VSP_055672, VSP_019245, VSP_019246; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q13356
geneSymbol: PPIL2
reactome: R-HSA-210991;
pdb: 1ZKC;
length: 520
go: ENSG00000100023;
name:
RING-type E3 ubiquitin-protein ligase PPIL2 (EC 2.3.2.27) (CYC4) (Cyclophilin-60) (Cyclophilin-like protein Cyp-60) (Cyp60) (hCyP-60) (Probable inactive peptidyl-prolyl cis-trans isomerase-like 2) (PPIase) (Rotamase PPIL2)

sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi lumen [GO:0005796]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-ubiquitin ligase activity [GO:0034450]; leukocyte migration [GO:0050900]; protein folding [GO:0006457]; protein localization to plasma membrane [GO:0072659]; protein peptidyl-prolyl isomerization [GO:0000413]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13356-1; Sequence=Displayed; Name=2; IsoId=Q13356-2; Sequence=VSP_005182; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11435423, ECO:0000269|PubMed:8660300}. Note=May also localize to the cytoplasm and the cell membrane. {ECO:0000269|PubMed:15946952}.


uniprotID: O14830
geneSymbol: PPEF2
name: Serine/threonine-protein phosphatase with EF-hands 2 (PPEF-2) (EC 3.1.3.16)
length: 753
go: ENSG00000156194;
snps: rs34097437 rs35599561 rs6858658 rs34155925 rs17000961
sequence:

opentargets:
cytosol [GO:0005829]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; calcium ion binding [GO:0005509]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; iron ion binding [GO:0005506]; manganese ion binding [GO:0030145]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein serine/threonine phosphatase activity [GO:0004722]; detection of stimulus involved in sensory perception [GO:0050906]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; protein dephosphorylation [GO:0006470]; regulation of JUN kinase activity [GO:0043506]; regulation of MAP kinase activity [GO:0043405]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=PPEF-2(L); IsoId=O14830-1; Sequence=Displayed; Name=PPEF-2(S); IsoId=O14830-2; Sequence=VSP_005103, VSP_005104; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment. Note=Localized to photoreceptors, PPEF-2(L) is at least 2 fold more abundant in rod inner segments than in the outer segments.


uniprotID: Q9H3Y8
geneSymbol: PPDPF
length: 114
go: ENSG00000125534;
opentargets: cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]
name:
Pancreatic progenitor cell differentiation and proliferation factor (Exocrine differentiation and proliferation factor)

sequence:
MAAIPSSGSLVATHDYYRRRLGSTSSNSSCSSTECPGEAIPHPPGLPKADPGHWWASFFFGKSTLPFMATVLESAEHSEPPQASSSMTACGLARDAPRKQPGGQSSTASAGPPS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3Y8-1; Sequence=Displayed; Name=2; IsoId=Q9H3Y8-2; Sequence=VSP_003823, VSP_003824; Note=No experimental confirmation available.; 


uniprotID: Q8NA58
geneSymbol: PNLDC1
length: 520
go: ENSG00000146453;
name:
Poly(A)-specific ribonuclease PNLDC1 (EC 3.1.13.4) (PARN-like domain-containing protein 1) (Poly(A)-specific ribonuclease domain-containing protein 1) (HsPNLDC1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 3'-5'-exoribonuclease activity [GO:0000175]; metal ion binding [GO:0046872]; poly(A)-specific ribonuclease activity [GO:0004535]; RNA binding [GO:0003723]; blastocyst formation [GO:0001825]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NA58-1; Sequence=Displayed; Name=2; IsoId=Q8NA58-2; Sequence=VSP_029552; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:27515512}; Single-pass membrane protein {ECO:0000305}. Note=Localizes mainly in the endoplasmic reticulum (PubMed:27515512). {ECO:0000269|PubMed:27515512}.


uniprotID: Q9WJR5
geneSymbol: ERVK-19
length: 959
name:
Endogenous retrovirus group K member 19 Pol protein (HERV-K(C19) Pol protein) (HERV-K_19q11 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as Gag-Pro and Gag-Pro-Pol polyprotein precursors. These polyproteins are thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=Q9WJR5-1; Sequence=Displayed; 


uniprotID: Q969H6
geneSymbol: POP5
reactome: R-HSA-6784531;
name: Ribonuclease P/MRP protein subunit POP5 (hPop5) (EC 3.1.26.5)
length: 163
go: ENSG00000167272;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus.
sequence:
MVRFKHRYLLCELVSDDPRCRLSLDDRVLSSLVRDTIARVHGTFGAAACSIGFAVRYLNAYTGIVLLRCRKEFYQLVWSALPFITYLENKGHRYPCFFNTLHVGGTIRTCQKFLIQYNRRQLLILLQNCTDEGEREAIQKSVTRSCLLEEEEESGEEAAEAME

opentargets:
multimeric ribonuclease P complex [GO:0030681]; nucleolar ribonuclease P complex [GO:0005655]; nucleoplasm [GO:0005654]; ribonuclease MRP complex [GO:0000172]; ribonuclease P activity [GO:0004526]; rRNA processing [GO:0006364]; tRNA 5'-leader removal [GO:0001682]; tRNA processing [GO:0008033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969H6-1; Sequence=Displayed; Name=2; IsoId=Q969H6-2; Sequence=VSP_042733; Note=No experimental confirmation available.; 


uniprotID: Q96QC0
geneSymbol: PPP1R10
length: 940
go: ENSG00000204569;
snps: rs16897725
name:
Serine/threonine-protein phosphatase 1 regulatory subunit 10 (MHC class I region proline-rich protein CAT53) (PP1-binding protein of 114 kDa) (Phosphatase 1 nuclear targeting subunit) (Protein FB19) (p99)

sequence:

opentargets:
chromatin [GO:0000785]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PTW/PP1 phosphatase complex [GO:0072357]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; protein phosphatase inhibitor activity [GO:0004864]; RNA binding [GO:0003723]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of mitotic DNA damage checkpoint [GO:1904290]; positive regulation of telomere maintenance [GO:0032206]; protein import into nucleus [GO:0006606]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00649, ECO:0000269|PubMed:9450550}. Note=Found in discrete nucleoplasmic bodies and within nucleoli. Associates with chromatin during interphase, excluded from condensed chromosomes during early mitosis and is reloaded onto chromosomes at the late telophase (By similarity). {ECO:0000250}.


uniprotID: Q99575
geneSymbol: POP1
reactome: R-HSA-6784531;
name: Ribonucleases P/MRP protein subunit POP1 (hPOP1) (EC 3.1.26.5)
length: 1024
go: ENSG00000104356;
snps: rs3824145 rs2306131 rs1060505025 rs17184326 rs1060505023 rs374828868 rs17856355
location: SUBCELLULAR LOCATION: Nucleus, nucleolus.
sequence:

opentargets:
extracellular space [GO:0005615]; multimeric ribonuclease P complex [GO:0030681]; nucleolar ribonuclease P complex [GO:0005655]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ribonuclease MRP complex [GO:0000172]; ribonuclease MRP activity [GO:0000171]; ribonuclease P activity [GO:0004526]; RNA binding [GO:0003723]; tRNA 5'-leader removal [GO:0001682]; tRNA catabolic process [GO:0016078]; tRNA processing [GO:0008033]


uniprotID: Q8NBT0
geneSymbol: POC1A
length: 407
go: ENSG00000164087;
snps: rs35249554 rs397514488 rs35898691
name:
POC1 centriolar protein homolog A (Pix2) (Proteome of centriole protein 1A) (WD repeat-containing protein 51A)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; spindle pole [GO:0000922]; growth plate cartilage chondrocyte development [GO:0003431]; mitotic spindle organization [GO:0007052]; non-motile cilium assembly [GO:1905515]; positive regulation of centrosome duplication [GO:0010825]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NBT0-1; Sequence=Displayed; Name=2; IsoId=Q8NBT0-2; Sequence=VSP_017836; Note=No experimental confirmation available.; Name=3; IsoId=Q8NBT0-3; Sequence=VSP_046398; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter centrioles.


uniprotID: P27169
geneSymbol: PON1
reactome: R-HSA-2142688;
pdb: 1V04;1XHR;
length: 355
go: ENSG00000005421;
drug: DB01327;
snps: rs854560 rs72552787 rs13306698 rs662
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Serum paraoxonase/arylesterase 1 (PON 1) (EC 3.1.1.2) (EC 3.1.1.81) (EC 3.1.8.1) (Aromatic esterase 1) (A-esterase 1) (K-45) (Serum aryldialkylphosphatase 1)

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; intracellular membrane-bounded organelle [GO:0043231]; spherical high-density lipoprotein particle [GO:0034366]; acyl-L-homoserine-lactone lactonohydrolase activity [GO:0102007]; aryldialkylphosphatase activity [GO:0004063]; arylesterase activity [GO:0004064]; calcium ion binding [GO:0005509]; phospholipid binding [GO:0005543]; protein homodimerization activity [GO:0042803]; aromatic compound catabolic process [GO:0019439]; carboxylic acid catabolic process [GO:0046395]; cholesterol metabolic process [GO:0008203]; lipoxygenase pathway [GO:0019372]; organophosphate catabolic process [GO:0046434]; phosphatidylcholine metabolic process [GO:0046470]; positive regulation of binding [GO:0051099]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of transporter activity [GO:0032411]; response to fatty acid [GO:0070542]; response to fluoride [GO:1902617]; response to nutrient levels [GO:0031667]; response to toxic substance [GO:0009636]


uniprotID: P63132
geneSymbol: HERVK_113
length: 956
name:
Endogenous retrovirus group K member 113 Pol protein (HERV-K113 Pol protein) (HERV-K_19p13.11 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:


uniprotID: P36873
geneSymbol: PPP1CC
pdb: 1IT6;1JK7;1U32;2BCD;2BDX;4UT2;4UT3;5INB;5J28;
length: 323
go: ENSG00000186298;
drug: DB02860;DB04738;
snps: rs11558237
reactome:
R-HSA-141444;R-HSA-163560;R-HSA-2173788;R-HSA-2467813;R-HSA-2500257;R-HSA-400253;R-HSA-5663220;R-HSA-68877;

name:
Serine/threonine-protein phosphatase PP1-gamma catalytic subunit (PP-1G) (EC 3.1.3.16) (Protein phosphatase 1C catalytic subunit)

sequence:

opentargets:
cleavage furrow [GO:0032154]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; midbody [GO:0030496]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleus [GO:0005634]; presynapse [GO:0098793]; protein phosphatase type 1 complex [GO:0000164]; protein-containing complex [GO:0032991]; PTW/PP1 phosphatase complex [GO:0072357]; lamin binding [GO:0005521]; metal ion binding [GO:0046872]; phosphatase activity [GO:0016791]; phosphoprotein phosphatase activity [GO:0004721]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; protein phosphatase 1 binding [GO:0008157]; protein serine/threonine phosphatase activity [GO:0004722]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; cell cycle [GO:0007049]; cell division [GO:0051301]; circadian regulation of gene expression [GO:0032922]; entrainment of circadian clock by photoperiod [GO:0043153]; glycogen metabolic process [GO:0005977]; neuron differentiation [GO:0030182]; positive regulation of glial cell proliferation [GO:0060252]; protein dephosphorylation [GO:0006470]; regulation of circadian rhythm [GO:0042752]; regulation of nucleocytoplasmic transport [GO:0046822]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PPPCC1, Gamma-1; IsoId=P36873-1; Sequence=Displayed; Name=2; Synonyms=PPPCC2, Gamma-2; IsoId=P36873-2; Sequence=VSP_005094; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11739654}. Nucleus. Nucleus, nucleolus {ECO:0000269|PubMed:11739654, ECO:0000269|PubMed:20926688}. Nucleus, nucleoplasm {ECO:0000269|PubMed:11739654}. Nucleus speckle {ECO:0000269|PubMed:11739654}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:12529430}. Cleavage furrow {ECO:0000269|PubMed:12529430}. Midbody {ECO:0000269|PubMed:12529430}. Mitochondrion {ECO:0000269|PubMed:17936702}. Note=Colocalizes with SPZ1 in the nucleus (By similarity). Colocalizes with URI1 at mitochondrion (PubMed:17936702). Rapidly exchanges between the nucleolar, nucleoplasmic and cytoplasmic compartments (PubMed:11739654). Highly mobile in cells and can be relocalized through interaction with targeting subunits (PubMed:17965019). In the presence of PPP1R8 relocalizes from the nucleolus to nuclear speckles (PubMed:11739654). Shows a dynamic targeting to specific sites throughout the cell cycle (PubMed:12529430). Highly concentrated in nucleoli of interphase cells and localizes at kinetochores early in mitosis (PubMed:12529430). Relocalization to chromosome-containing regions occurs at the transition from early to late anaphase (PubMed:12529430). Also accumulates at the cleavage furrow and midbody by telophase (PubMed:12529430). {ECO:0000250|UniProtKB:P63087, ECO:0000269|PubMed:11739654, ECO:0000269|PubMed:12529430, ECO:0000269|PubMed:17936702, ECO:0000269|PubMed:17965019}.


uniprotID: Q9Y244
geneSymbol: POMP
length: 141
go: ENSG00000132963;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol. Nucleus. Microsome membrane.
name:
Proteasome maturation protein (Proteassemblin) (Protein UMP1 homolog) (hUMP1) (Voltage-gated K channel beta subunit 4.1)

sequence:
MNARGLGSELKDSIPVTELSASGPFESHDLLRKGFSCVKNELLPSHPLELSEKNFQLNQDKMNFSTLRNIQGLFAPLKLQMEFKAVQQVQRLPFLSSSNLSLDVLRGNDETIGFEDILNDPSQSEVMGEPHLMVEYKLGLL

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; organelle membrane [GO:0031090]; proteasome assembly [GO:0043248]


uniprotID: Q96QR8
geneSymbol: PURB
name: Transcriptional activator protein Pur-beta (Purine-rich element-binding protein B)
length: 312
go: ENSG00000146676;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1448097}.
sequence:

opentargets:
DNA replication factor A complex [GO:0005662]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; double-stranded DNA binding [GO:0003690]; mRNA binding [GO:0003729]; purine-rich negative regulatory element binding [GO:0032422]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; single-stranded DNA binding [GO:0003697]; SMAD binding [GO:0046332]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; regulation of myeloid cell differentiation [GO:0045637]


uniprotID: O14829
geneSymbol: PPEF1
reactome: R-HSA-2514859;
length: 653
go: ENSG00000086717;
snps: rs1065074 rs11796620
name:
Serine/threonine-protein phosphatase with EF-hands 1 (PPEF-1) (EC 3.1.3.16) (Protein phosphatase with EF calcium-binding domain) (PPEF) (Serine/threonine-protein phosphatase 7) (PP7)

sequence:

opentargets:
cytosol [GO:0005829]; calcium ion binding [GO:0005509]; iron ion binding [GO:0005506]; manganese ion binding [GO:0030145]; protein serine/threonine phosphatase activity [GO:0004722]; detection of stimulus involved in sensory perception [GO:0050906]; protein dephosphorylation [GO:0006470]; regulation of rhodopsin mediated signaling pathway [GO:0022400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O14829-1; Sequence=Displayed; Name=1A; IsoId=O14829-2; Sequence=VSP_005098; Name=1B; IsoId=O14829-3; Sequence=VSP_005099; Name=2; IsoId=O14829-4; Sequence=VSP_005100, VSP_005101; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=O14829-5; Sequence=VSP_005102; Note=May have no functional significance.; 


uniprotID: Q8N8W4
geneSymbol: PNPLA1
name: Patatin-like phospholipase domain-containing protein 1 (EC 3.1.1.-)
length: 532
go: ENSG00000180316;
snps: rs12199580 rs12197079 rs4713956
sequence:

opentargets:
cytoplasm [GO:0005737]; lipid droplet [GO:0005811]; membrane [GO:0016020]; triglyceride lipase activity [GO:0004806]; lipid homeostasis [GO:0055088]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N8W4-1; Sequence=Displayed; Name=2; IsoId=Q8N8W4-2; Sequence=VSP_026371; Note=Inactive.; Name=3; IsoId=Q8N8W4-3; Sequence=VSP_026371, VSP_026372; Note=Inactive. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22246504}. Note=Clearly distributed in the cytoplasm of keratinocytes.


uniprotID: Q9NST1
geneSymbol: PNPLA3
reactome: R-HSA-1482883;
length: 481
go: ENSG00000100344;
snps: rs746140741 rs2076213 rs2076212 rs738409 rs190477302 rs35726887 rs2294918 rs6006460
name:
1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (EC 2.3.1.51) (Acylglycerol transacylase) (Adiponutrin) (ADPN) (Calcium-independent phospholipase A2-epsilon) (iPLA2-epsilon) (Lysophosphatidic acid acyltransferase) (Patatin-like phospholipase domain-containing protein 3) (EC 3.1.1.3)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; acylglycerol O-acyltransferase activity [GO:0016411]; diolein transacylation activity [GO:0051265]; lipoprotein lipase activity [GO:0004465]; long-chain fatty acyl-CoA binding [GO:0036042]; lysophosphatidic acid acyltransferase activity [GO:0042171]; lysophosphatidic acid binding [GO:0035727]; mono-olein transacylation activity [GO:0051264]; phospholipase A2 activity [GO:0004623]; triglyceride lipase activity [GO:0004806]; acylglycerol acyl-chain remodeling [GO:0036155]; glycerophospholipid metabolic process [GO:0006650]; lipid droplet organization [GO:0034389]; lipid homeostasis [GO:0055088]; long-chain fatty acid metabolic process [GO:0001676]; phosphatidic acid biosynthetic process [GO:0006654]; triglyceride acyl-chain remodeling [GO:0036153]; triglyceride biosynthetic process [GO:0019432]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NST1-1; Sequence=Displayed; Name=2; IsoId=Q9NST1-2; Sequence=VSP_036222; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15364929, ECO:0000269|PubMed:22560221}; Single-pass type II membrane protein {ECO:0000269|PubMed:15364929}. Lipid droplet {ECO:0000269|PubMed:20034933, ECO:0000269|PubMed:22560221}.


uniprotID: Q8IY26
geneSymbol: PLPP6
reactome: R-HSA-191273;
length: 295
go: ENSG00000205808;
snps: rs34250374 rs35791393 rs17857157
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase 6 (EC 3.1.3.-) (Phosphatidic acid phosphatase type 2 domain-containing protein 2) (PPAP2 domain-containing protein 2) (Presqualene diphosphate phosphatase)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; hydrolase activity [GO:0016787]; lipid phosphatase activity [GO:0042577]; cholesterol biosynthetic process [GO:0006695]; phospholipid dephosphorylation [GO:0046839]


uniprotID: Q6ZV29
geneSymbol: PNPLA7
reactome: R-HSA-6814848;
name: Patatin-like phospholipase domain-containing protein 7 (EC 3.1.1.-)
length: 1317
go: ENSG00000130653;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; mitochondrial membrane [GO:0031966]; nuclear membrane [GO:0031965]; lysophospholipase activity [GO:0004622]; lipid catabolic process [GO:0016042]

snps:
rs12788 rs2298171 rs11137410 rs3750378 rs3750379 rs11791683 rs1891630 rs34938599 rs3812499 rs35177111 rs4962237 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ZV29-1; Sequence=Displayed; Name=2; IsoId=Q6ZV29-2; Sequence=VSP_026500, VSP_026501, VSP_026502; Name=3; IsoId=Q6ZV29-3; Sequence=VSP_026503; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZV29-4; Sequence=VSP_026504, VSP_026505; Note=No experimental confirmation available.; Name=5; IsoId=Q6ZV29-5; Sequence=VSP_026500; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Mitochondrion membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Lysosome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Found in the nuclear, mitochondrial, lysosomal, and microsomal fractions. {ECO:0000250}.


uniprotID: Q04941
geneSymbol: PLP2
name: Proteolipid protein 2 (Differentiation-dependent protein A4) (Intestinal membrane A4 protein)
length: 152
go: ENSG00000102007;
snps: rs1802969
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MADSERLSAPGCWAACTNFSRTRKGILLFAEIILCLVILICFSASTPGYSSLSVIEMILAAIFFVVYMCDLHTKIPFINWPWSDFFRTLIAAILYLITSIVVLVERGNHSKIVAGVLGLIATCLFGYDAYVTFPVRQPRHTAAPTDPADGPV

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; chemokine binding [GO:0019956]; ion transmembrane transporter activity [GO:0015075]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; ion transport [GO:0006811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q04941-1; Sequence=Displayed; Name=2; IsoId=Q04941-2; Sequence=VSP_041602; 


uniprotID: Q9NRY6
geneSymbol: PLSCR3
name: Phospholipid scramblase 3 (PL scramblase 3) (Ca(2+)-dependent phospholipid scramblase 3)
length: 295
go: ENSG00000187838;
snps: rs3744549
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; phospholipid scramblase activity [GO:0017128]; SH3 domain binding [GO:0017124]; apoptotic process [GO:0006915]; cellular response to lipopolysaccharide [GO:0071222]; cholesterol homeostasis [GO:0042632]; glucose homeostasis [GO:0042593]; phospholipid scrambling [GO:0017121]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:17226776}; Single-pass type II membrane protein {ECO:0000269|PubMed:17226776}.


uniprotID: A0A1B0GUJ8
geneSymbol: PNMA8C
name: Paraneoplastic antigen-like protein 8C
length: 204
sequence:


uniprotID: P31939
geneSymbol: ATIC
reactome: R-HSA-73817;
pdb: 1P4R;1PKX;1PL0;5UY8;5UZ0;
length: 592
go: ENSG00000138363;
drug: DB03442;DB02309;DB01700;DB01972;DB00563;DB00642;DB00116;
snps: rs2372536 rs121434478
name:
Bifunctional purine biosynthesis protein PURH [Cleaved into: Bifunctional purine biosynthesis protein PURH, N-terminally processed] [Includes: Phosphoribosylaminoimidazolecarboxamide formyltransferase (EC 2.1.2.3) (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase) (AICAR transformylase); IMP cyclohydrolase (EC 3.5.4.10) (ATIC) (IMP synthase) (Inosinicase)]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; IMP cyclohydrolase activity [GO:0003937]; phosphoribosylaminoimidazolecarboxamide formyltransferase activity [GO:0004643]; protein homodimerization activity [GO:0042803]; 'de novo' IMP biosynthetic process [GO:0006189]; animal organ regeneration [GO:0031100]; brainstem development [GO:0003360]; cerebellum development [GO:0021549]; cerebral cortex development [GO:0021987]; dihydrofolate metabolic process [GO:0046452]; nucleobase-containing compound metabolic process [GO:0006139]; nucleoside metabolic process [GO:0009116]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]; response to inorganic substance [GO:0010035]; tetrahydrofolate biosynthetic process [GO:0046654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31939-1; Sequence=Displayed; Name=2; IsoId=P31939-2; Sequence=VSP_053495; 


uniprotID: O00469
geneSymbol: PLOD2
reactome: R-HSA-1650814;
name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (EC 1.14.11.4) (Lysyl hydroxylase 2) (LH2)
length: 737
go: ENSG00000152952;
drug: DB00126;
snps: rs121434461 rs762788421 rs121434460 rs121434459
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; rough endoplasmic reticulum membrane [GO:0030867]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; procollagen-lysine 5-dioxygenase activity [GO:0008475]; cellular protein modification process [GO:0006464]; collagen fibril organization [GO:0030199]; collagen metabolic process [GO:0032963]; hydroxylysine biosynthetic process [GO:0046947]; peptidyl-lysine hydroxylation [GO:0017185]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=O00469-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O00469-2; Sequence=VSP_013467; Name=3; IsoId=O00469-3; Sequence=VSP_057221, VSP_057222, VSP_013467; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.


uniprotID: O14494
geneSymbol: PLPP1
reactome: R-HSA-1660661;
length: 284
go: ENSG00000067113;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Phospholipid phosphatase 1 (EC 3.1.3.4) (Lipid phosphate phosphohydrolase 1) (PAP2-alpha) (Phosphatidate phosphohydrolase type 2a) (Phosphatidic acid phosphatase 2a) (PAP-2a) (PAP2a)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; sphingosine-1-phosphate phosphatase activity [GO:0042392]; androgen receptor signaling pathway [GO:0030521]; germ cell migration [GO:0008354]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; lipid metabolic process [GO:0006629]; negative regulation of cell proliferation [GO:0008285]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]; protein dephosphorylation [GO:0006470]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of lipid metabolic process [GO:0019216]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Alpha-1, hLPP1, PAP2-a1; IsoId=O14494-1; Sequence=Displayed; Name=2; Synonyms=Alpha-2, hLPP1-a, PAP2-a2; IsoId=O14494-2; Sequence=VSP_009651; 


uniprotID: P00747
geneSymbol: PLG
reactome: R-HSA-114608;R-HSA-1474228;R-HSA-1592389;R-HSA-186797;R-HSA-381426;R-HSA-75205;
length: 810
go: ENSG00000122194;
drug: DB00009;DB00513;DB00029;DB06692;DB03709;DB04925;DB00015;DB00086;DB00031;DB00302;DB00013;
pdb:
1B2I;1BML;1BUI;1CEA;1CEB;1DDJ;1HPJ;1HPK;1I5K;1KI0;1KRN;1L4D;1L4Z;1PK4;1PKR;1PMK;1QRZ;1RJX;2DOH;2DOI;2KNF;2L0S;2PK4;3UIR;4A5T;4CIK;4DCB;4DUR;4DUU;5HPG;5UGD;5UGG;

name:
Plasminogen (EC 3.4.21.7) [Cleaved into: Plasmin heavy chain A; Activation peptide; Angiostatin; Plasmin heavy chain A, short form; Plasmin light chain B]

sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of external side of plasma membrane [GO:0031232]; other organism cell membrane [GO:0044218]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; apolipoprotein binding [GO:0034185]; chaperone binding [GO:0051087]; endopeptidase activity [GO:0004175]; enzyme binding [GO:0019899]; kinase binding [GO:0019900]; proteasome core complex binding [GO:1904854]; protein antigen binding [GO:1990405]; protein domain specific binding [GO:0019904]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; signaling receptor binding [GO:0005102]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; extracellular matrix disassembly [GO:0022617]; fibrinolysis [GO:0042730]; interaction with symbiont [GO:0051702]; interaction with symbiont via secreted substance involved in symbiotic interaction [GO:0052213]; modification by host of symbiont morphology or physiology via secreted substance [GO:0052182]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-cell adhesion mediated by cadherin [GO:2000048]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of fibrinolysis [GO:0051918]; platelet degranulation [GO:0002576]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of fibrinolysis [GO:0051919]; proteolysis [GO:0006508]; tissue remodeling [GO:0048771]

snps:
rs73015965 rs1049573 rs4252070 rs4252186 rs770198253 rs121918030 rs4252187 rs121918028 rs4252119 rs1804181 rs4252125 rs4252128 rs4252129 rs121918029 rs121918027 rs17857492 rs121918033 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10077593, ECO:0000269|PubMed:14699093}. Note=Locates to the cell surface where it is proteolytically cleaved to produce the active plasmin. Interaction with HRG tethers it to the cell surface.


uniprotID: Q92871
geneSymbol: PMM1
reactome: R-HSA-446205;
pdb: 2FUC;2FUE;6CFR;6CFS;6CFT;6CFU;6CFV;
name: Phosphomannomutase 1 (PMM 1) (EC 5.4.2.8) (PMMH-22)
length: 262
go: ENSG00000100417;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; neuronal cell body [GO:0043025]; metal ion binding [GO:0046872]; phosphomannomutase activity [GO:0004615]; cellular response to leukemia inhibitory factor [GO:1990830]; GDP-mannose biosynthetic process [GO:0009298]; mannose metabolic process [GO:0006013]; protein N-linked glycosylation [GO:0006487]; protein targeting to ER [GO:0045047]


uniprotID: Q99640
geneSymbol: PKMYT1
reactome: R-HSA-156711;R-HSA-69273;R-HSA-69478;
pdb: 3P1A;5VCV;5VCW;5VCX;5VCY;5VCZ;5VD0;5VD1;5VD3;
length: 499
go: ENSG00000127564;
snps: rs55834293 rs4149796 rs35192104 rs56382954 rs4149800 rs10546
name:
Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (EC 2.7.11.1) (Myt1 kinase)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; G2/M transition of mitotic cell cycle [GO:0000086]; meiotic cell cycle [GO:0051321]; mitotic cell cycle [GO:0000278]; negative regulation of phosphatase activity [GO:0010923]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q99640-1; Sequence=Displayed; Name=2; IsoId=Q99640-2; Sequence=VSP_045699; Note=No experimental confirmation available.; Name=3; IsoId=Q99640-3; Sequence=VSP_046846; Note=No experimental confirmation available.; Name=4; IsoId=Q99640-4; Sequence=VSP_046847; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9001210}; Peripheral membrane protein {ECO:0000269|PubMed:9001210}. Golgi apparatus membrane {ECO:0000269|PubMed:9001210}; Peripheral membrane protein {ECO:0000269|PubMed:9001210}.


uniprotID: Q9ULN7
geneSymbol: PNMA8B
name: Paraneoplastic antigen-like protein 8B (PNMA-like protein 2)
length: 635
go: ENSG00000204851;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9ULN7-5; Sequence=Displayed; Name=1; IsoId=Q9ULN7-1; Sequence=VSP_059423, VSP_059424; Note=No experimental confirmation available.; 


uniprotID: O94903
geneSymbol: PLPBP
length: 275
go: ENSG00000147471;
opentargets: cytoplasm [GO:0005737]; intracellular [GO:0005622]; pyridoxal phosphate binding [GO:0030170]
drug: DB00172;DB00114;
snps: rs35423325 rs755946598 rs752753379 rs760609867
name:
Pyridoxal phosphate homeostasis protein (PLP homeostasis protein) (Proline synthase co-transcribed bacterial homolog protein) (Pyridoxal phosphate-binding protein)

sequence:


uniprotID: O43688
geneSymbol: PLPP2
reactome: R-HSA-1660661;
length: 288
go: ENSG00000141934;
snps: rs1138439
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Phospholipid phosphatase 2 (EC 3.1.3.4) (Lipid phosphate phosphohydrolase 2) (PAP2-gamma) (PAP2-G) (Phosphatidate phosphohydrolase type 2c) (Phosphatidic acid phosphatase 2c) (PAP-2c) (PAP2c)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; phosphoprotein phosphatase activity [GO:0004721]; sphingosine-1-phosphate phosphatase activity [GO:0042392]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43688-1; Sequence=Displayed; Name=2; IsoId=O43688-2; Sequence=VSP_037765; Note=No experimental confirmation available.; Name=3; IsoId=O43688-3; Sequence=VSP_047366; Note=Gene prediction based on EST data.; 


uniprotID: Q9NRQ2
geneSymbol: PLSCR4
pdb: 3Q5U;
length: 329
go: ENSG00000114698;
snps: rs3762685 rs1061409
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
name:
Phospholipid scramblase 4 (PL scramblase 4) (Ca(2+)-dependent phospholipid scramblase 4) (Cell growth-inhibiting gene 43 protein) (TRA1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; CD4 receptor binding [GO:0042609]; enzyme binding [GO:0019899]; phospholipid scramblase activity [GO:0017128]; SH3 domain binding [GO:0017124]; cellular response to lipopolysaccharide [GO:0071222]; phospholipid scrambling [GO:0017121]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRQ2-1; Sequence=Displayed; Name=2; IsoId=Q9NRQ2-2; Sequence=VSP_042931, VSP_042932; Note=No experimental confirmation available.; 


uniprotID: O15305
geneSymbol: PMM2
reactome: R-HSA-4043911;R-HSA-446205;
pdb: 2AMY;2Q4R;
name: Phosphomannomutase 2 (PMM 2) (EC 5.4.2.8)
length: 246
go: ENSG00000140650;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; phosphomannomutase activity [GO:0004615]; GDP-mannose biosynthetic process [GO:0009298]; mannose metabolic process [GO:0006013]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]; protein targeting to ER [GO:0045047]

snps:
rs104894532 rs949271895 rs398123312 rs2304472 rs755402538 rs104894534 rs104894527 rs769648248 rs1440183322 rs770458492 rs200503569 rs80338700 rs104894530 rs80338701 rs368582085 rs141498002 rs104894525 rs1274547742 rs753632453 rs80338702 rs80338703 rs746610168 rs28936415 rs150719105 rs148032587 rs150577656 rs190521996 rs104894526 rs941830625 rs780581250 rs80338704 rs34258285 rs398123309 rs3743808 rs78290141 rs78290141 rs80338705 rs104894531 rs201960869 rs80338706 rs558826439 rs398123311 rs80338707 rs80338708 rs80338708 rs151319324 rs80338709 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15305-1; Sequence=Displayed; Name=2; IsoId=O15305-2; Sequence=VSP_056228, VSP_056229; Note=No experimental confirmation available.; 


uniprotID: P09086
geneSymbol: POU2F2
reactome: R-HSA-6807505;
pdb: 1HDP;
length: 479
go: ENSG00000028277;
drug: DB08930;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus.
name:
POU domain, class 2, transcription factor 2 (Lymphoid-restricted immunoglobulin octamer-binding protein NF-A2) (Octamer-binding protein 2) (Oct-2) (Octamer-binding transcription factor 2) (OTF-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; 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]; cell maturation [GO:0048469]; humoral immune response [GO:0006959]; immunoglobulin secretion involved in immune response [GO:0002380]; mature B cell differentiation [GO:0002335]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P09086-1; Sequence=Displayed; Name=2; IsoId=P09086-2; Sequence=VSP_002325; Name=3; IsoId=P09086-3; Sequence=VSP_002324; Name=4; IsoId=P09086-4; Sequence=VSP_002324, VSP_007848, VSP_007849; Name=5; Synonyms=Oct-2B; IsoId=P09086-5; Sequence=VSP_032187; Note=Incomplete sequence.; 


uniprotID: Q9HBU9
geneSymbol: POPDC2
name: Popeye domain-containing protein 2 (Popeye protein 2)
length: 364
go: ENSG00000121577;
snps: rs4688023
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; sarcolemma [GO:0042383]; cAMP binding [GO:0030552]; heart development [GO:0007507]; regulation of heart rate [GO:0002027]; regulation of membrane potential [GO:0042391]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBU9-1; Sequence=Displayed; Name=2; IsoId=Q9HBU9-2; Sequence=VSP_008743; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:26642364}; Multi-pass membrane protein {ECO:0000305}. Cell membrane, sarcolemma {ECO:0000269|PubMed:26642364}.


uniprotID: P62140
geneSymbol: PPP1CB
length: 327
go: ENSG00000213639;
snps: rs886037952 rs1114167429 rs886037954 rs886037954 rs886037953 rs886037955
reactome:
R-HSA-163560;R-HSA-2173788;R-HSA-2565942;R-HSA-400253;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;

name:
Serine/threonine-protein phosphatase PP1-beta catalytic subunit (PP-1B) (PPP1CD) (EC 3.1.3.16) (EC 3.1.3.53)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein phosphatase type 1 complex [GO:0000164]; PTW/PP1 phosphatase complex [GO:0072357]; metal ion binding [GO:0046872]; myosin phosphatase activity [GO:0017018]; myosin-light-chain-phosphatase activity [GO:0050115]; phosphatase activity [GO:0016791]; protein kinase binding [GO:0019901]; cell cycle [GO:0007049]; cell division [GO:0051301]; circadian regulation of gene expression [GO:0032922]; entrainment of circadian clock by photoperiod [GO:0043153]; glycogen metabolic process [GO:0005977]; protein dephosphorylation [GO:0006470]; regulation of cell adhesion [GO:0030155]; regulation of circadian rhythm [GO:0042752]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11739654}. Nucleus {ECO:0000269|PubMed:11739654}. Nucleus, nucleoplasm {ECO:0000269|PubMed:11739654}. Nucleus, nucleolus {ECO:0000269|PubMed:11739654, ECO:0000269|PubMed:20926688}. Note=Highly mobile in cells and can be relocalized through interaction with targeting subunits. In the presence of PPP1R8 relocalizes from the nucleus to nuclear speckles. {ECO:0000269|PubMed:11739654}.


uniprotID: Q9UNP9
geneSymbol: PPIE
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6798695;R-HSA-72163;
pdb: 1ZMF;2CQB;2KU7;2KYX;2R99;3LPY;3MDF;3UCH;5MQF;5YZG;5Z56;5Z57;
length: 301
go: ENSG00000084072;
name:
Peptidyl-prolyl cis-trans isomerase E (PPIase E) (EC 5.2.1.8) (Cyclophilin E) (Cyclophilin-33) (Rotamase E)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Prp19 complex [GO:0000974]; secretory granule lumen [GO:0034774]; U2-type catalytic step 2 spliceosome [GO:0071007]; cyclosporin A binding [GO:0016018]; mRNA binding [GO:0003729]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; poly(A) binding [GO:0008143]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; mRNA splicing, via spliceosome [GO:0000398]; neutrophil degranulation [GO:0043312]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; regulation of transcription, DNA-templated [GO:0006355]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q9UNP9-1; Sequence=Displayed; Name=B; IsoId=Q9UNP9-2; Sequence=VSP_005181; Name=3; Synonyms=Cyclophilin-33B; IsoId=Q9UNP9-3; Sequence=VSP_046370; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:25599396, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:8977107}.


uniprotID: Q8TEM1
geneSymbol: NUP210
length: 1887
go: ENSG00000132182;
snps: rs7628051 rs3732671 rs6795271 rs2280084 rs2280085 rs433032 rs2271505 rs13081937 rs354479 rs354478
name:
Nuclear pore membrane glycoprotein 210 (Nuclear pore protein gp210) (Nuclear envelope pore membrane protein POM 210) (POM210) (Nucleoporin Nup210) (Pore membrane protein of 210 kDa)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; protein dimerization activity [GO:0046983]; mRNA export from nucleus [GO:0006406]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEM1-1; Sequence=Displayed; Name=2; IsoId=Q8TEM1-2; Sequence=VSP_018567, VSP_018568; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:2195063}. Nucleus membrane {ECO:0000269|PubMed:2195063}; Single-pass type I membrane protein {ECO:0000269|PubMed:2195063}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:2195063}; Single-pass type I membrane protein {ECO:0000269|PubMed:2195063}.


uniprotID: Q6S8J7
geneSymbol: POTEA
length: 498
name:
POTE ankyrin domain family member A (ANKRD26-like family A member 1) (Prostate, ovary, testis-expressed protein on chromosome 8) (POTE-8)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=Q6S8J7-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q6S8J7-2; Sequence=VSP_011974; 


uniprotID: A0A0A6YYL3
geneSymbol: POTEB
length: 544
snps: rs2445603 rs1340702692 rs1269910098
name:
POTE ankyrin domain family member B (ANKRD26-like family B member 1) (Prostate, ovary, testis-expressed protein on chromosome 15) (POTE-15)

sequence:


uniprotID: Q8TF01
geneSymbol: PNISR
length: 805
go: ENSG00000132424;
opentargets: cytosol [GO:0005829]; nuclear speck [GO:0016607]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:14578391}.
name:
Arginine/serine-rich protein PNISR (PNN-interacting serine/arginine-rich protein) (SR-related protein) (SR-rich protein) (Serine/arginine-rich-splicing regulatory protein 130) (SRrp130) (Splicing factor, arginine/serine-rich 130) (Splicing factor, arginine/serine-rich 18)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TF01-1; Sequence=Displayed; Name=2; IsoId=Q8TF01-2; Sequence=VSP_014458, VSP_014459; 


uniprotID: Q8ND90
geneSymbol: PNMA1
name: Paraneoplastic antigen Ma1 (37 kDa neuronal protein) (Neuron- and testis-specific protein 1)
length: 353
go: ENSG00000176903;
snps: rs35129712 rs34413931
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; inflammatory response to antigenic stimulus [GO:0002437]; positive regulation of apoptotic process [GO:0043065]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10050892}. Note=In tumor cells, it is cytoplasmic.


uniprotID: O00592
geneSymbol: PODXL
name: Podocalyxin (GCTM-2 antigen) (Gp200) (Podocalyxin-like protein 1) (PC) (PCLP-1)
length: 558
go: ENSG00000128567;
snps: rs3735035 rs55698400 rs12670788 rs35893129 rs3212298
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; lamellipodium [GO:0030027]; membrane raft [GO:0045121]; microtubule organizing center [GO:0005815]; microvillus membrane [GO:0031528]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; slit diaphragm [GO:0036057]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; epithelial tube formation [GO:0072175]; glomerular visceral epithelial cell development [GO:0072015]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell-cell adhesion [GO:0022408]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-cell adhesion mediated by integrin [GO:0033634]; regulation of microvillus assembly [GO:0032534]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00592-1; Sequence=Displayed; Name=2; IsoId=O00592-2; Sequence=VSP_037220; 

location:
SUBCELLULAR LOCATION: Apical cell membrane. Cell projection, lamellipodium. Cell projection, filopodium. Cell projection, ruffle. Cell projection, microvillus {ECO:0000250}. Membrane raft {ECO:0000250}. Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=In single attached epithelial cells is restricted to a preapical pole on the free plasma membrane whereas other apical and basolateral proteins are not yet polarized. Colocalizes with SLC9A3R2 at the apical plasma membrane during epithelial polarization. Colocalizes with SLC9A3R1 at the trans-Golgi network (transiently) and at the apical plasma membrane. Its association with the membrane raft is transient. Colocalizes with actin filaments, EZR and SLC9A3R1 in a punctate pattern at the apical cell surface where microvilli form. Colocalizes with EZR and SLC9A3R2 at the apical cell membrane of glomerular epithelium cells (By similarity). Forms granular, punctuated pattern, forming patches, preferentially adopting a polar distribution, located on the migrating poles of the cell or forming clusters along the terminal ends of filipodia establishing contact with the endothelial cells. Colocalizes with the submembrane actin of lamellipodia, particularly associated with ruffles. Colocalizes with vinculin at protrusions of cells. Colocalizes with ITGB1. Colocalizes with PARD3, PRKCI, EXOC5, OCLN, RAB11A and RAB8A in apical membrane initiation sites (AMIS) during the generation of apical surface and luminogenesis (By similarity). {ECO:0000250}.


uniprotID: Q9NVS9
geneSymbol: PNPO
reactome: R-HSA-964975;
pdb: 1NRG;3HY8;6H00;
name: Pyridoxine-5'-phosphate oxidase (EC 1.4.3.5) (Pyridoxamine-phosphate oxidase)
length: 261
go: ENSG00000108439;
drug: DB03345;DB00114;DB02209;DB03247;
snps: rs549477447 rs17679445 rs550423482 rs773450573 rs104894629
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; FMN binding [GO:0010181]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; pyridoxamine-phosphate oxidase activity [GO:0004733]; pyridoxal phosphate biosynthetic process [GO:0042823]; pyridoxine biosynthetic process [GO:0008615]; vitamin B6 metabolic process [GO:0042816]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NVS9-1; Sequence=Displayed; Name=2; IsoId=Q9NVS9-2; Sequence=VSP_058769, VSP_058770; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=Q9NVS9-3; Sequence=VSP_056410; Note=No experimental confirmation available.; Name=4; IsoId=Q9NVS9-4; Sequence=VSP_056411; Note=No experimental confirmation available.; 


uniprotID: Q15319
geneSymbol: POU4F3
length: 338
go: ENSG00000091010;
snps: rs367737951 rs121909057 rs121909056 rs398123070 rs1339291105
name:
POU domain, class 4, transcription factor 3 (Brain-specific homeobox/POU domain protein 3C) (Brain-3C) (Brn-3C)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; axon extension [GO:0048675]; inner ear auditory receptor cell differentiation [GO:0042491]; inner ear morphogenesis [GO:0042472]; neuromuscular process controlling balance [GO:0050885]; neuron apoptotic process [GO:0051402]; positive regulation of transcription by RNA polymerase II [GO:0045944]; retinal ganglion cell axon guidance [GO:0031290]; sensory perception of sound [GO:0007605]; vestibulocochlear nerve development [GO:0021562]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18228599, ECO:0000269|PubMed:28790396}. Cytoplasm {ECO:0000269|PubMed:28790396}. Note=Preferentially localized in the nucleus. {ECO:0000269|PubMed:28790396}.


uniprotID: Q9Y253
geneSymbol: POLH
reactome: R-HSA-110320;R-HSA-5656169;R-HSA-5685942;
name: DNA polymerase eta (EC 2.7.7.7) (RAD30 homolog A) (Xeroderma pigmentosum variant type protein)
length: 713
go: ENSG00000170734;
pdb:
2I5O;2LSK;3JAA;3MR2;3MR3;3MR5;3MR6;3SI8;3TQ1;3WUP;4DL2;4DL3;4DL4;4DL5;4DL6;4DL7;4ECQ;4ECR;4ECS;4ECT;4ECU;4ECV;4ECW;4ECX;4ECY;4ECZ;4ED0;4ED1;4ED2;4ED3;4ED6;4ED7;4ED8;4EEY;4J9K;4J9L;4J9M;4J9N;4J9O;4J9P;4J9Q;4J9R;4J9S;4O3N;4O3O;4O3P;4O3Q;4O3R;4O3S;4Q8E;4Q8F;4RNM;4RNN;4RNO;4RU9;4YP3;4YQW;4YR0;4YR2;4YR3;5DG7;5DG8;5DG9;5DGA;5DGB;5DLF;5DLG;5DQG;5DQH;5DQI;5EWE;5EWF;5EWG;5F9L;5F9N;5JUM;5KFA;5KFB;5KFC;5KFD;5KFE;5KFF;5KFG;5KFH;5KFI;5KFJ;5KFK;5KFL;5KFM;5KFN;5KFO;5KFP;5KFQ;5KFR;5KFS;5KFT;5KFU;5KFV;5KFW;5KFX;5KFY;5KFZ;5KG0;5KG1;5KG2;5KG3;5KG4;5KG5;5KG6;5KG7;5L1I;5L1J;5L1K;5L1L;5L9X;6D0M;6D0Z;6M7O;6M7P;6M7T;6M7U;6M7V;

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; replication fork [GO:0005657]; site of double-strand break [GO:0035861]; damaged DNA binding [GO:0003684]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; cellular response to UV-C [GO:0071494]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA synthesis involved in DNA repair [GO:0000731]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; pyrimidine dimer repair [GO:0006290]; regulation of DNA repair [GO:0006282]; response to radiation [GO:0009314]; response to UV-C [GO:0010225]; translesion synthesis [GO:0019985]

snps:
rs756931657 rs758423288 rs367709714 rs2307456 rs9333548 rs9296419 rs56307355 rs9333554 rs121908565 rs9333555 rs6941583 rs199562456 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y253-1; Sequence=Displayed; Name=2; IsoId=Q9Y253-2; Sequence=VSP_012799; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12606586}. Note=Accumulates at replication forks after DNA damage (PubMed:12606586). After UV irradiation, recruited to DNA damage sites within 1 hour, to a maximum of about 80%; this recruitment may not be not restricted to cells active in DNA replication (PubMed:22801543). {ECO:0000269|PubMed:12606586, ECO:0000269|PubMed:22801543}.


uniprotID: P63136
geneSymbol: ERVK-25
length: 954
name:
Endogenous retrovirus group K member 25 Pol protein (HERV-K_11q22.1 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:


uniprotID: P11086
geneSymbol: PNMT
reactome: R-HSA-209905;
name: Phenylethanolamine N-methyltransferase (PNMTase) (EC 2.1.1.28) (Noradrenaline N-methyltransferase)
length: 282
go: ENSG00000141744;
drug: DB08129;DB01752;
snps: rs11569781 rs36060376 rs34530498 rs34341496 rs5639 rs5640 rs5641 rs5642 rs5643
pdb:
1HNN;1N7I;1N7J;1YZ3;2AN3;2AN4;2AN5;2G70;2G71;2G72;2G8N;2OBF;2ONY;2ONZ;2OPB;3HCA;3HCB;3HCC;3HCD;3HCE;3HCF;3KPJ;3KPU;3KPV;3KPW;3KPY;3KQM;3KQO;3KQP;3KQQ;3KQS;3KQT;3KQV;3KQW;3KQY;3KR0;3KR1;3KR2;4DM3;4MIK;4MQ4;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; phenylethanolamine N-methyltransferase activity [GO:0004603]; catecholamine biosynthetic process [GO:0042423]; epinephrine biosynthetic process [GO:0042418]


uniprotID: P00491
geneSymbol: PNP
reactome: R-HSA-6798695;R-HSA-74217;R-HSA-74259;
length: 289
go: ENSG00000198805;
snps: rs1049564 rs104894453 rs104894450 rs104894454 rs104894452 rs104894451
pdb:
1M73;1PF7;1PWY;1RCT;1RFG;1RR6;1RSZ;1RT9;1ULA;1ULB;1V2H;1V3Q;1V41;1V45;1YRY;2A0W;2A0X;2A0Y;2OC4;2OC9;2ON6;2Q7O;3BGS;3D1V;3GB9;3GGS;3INY;3K8O;3K8Q;3PHB;4EAR;4EB8;4ECE;4GKA;5ETJ;5UGF;

name:
Purine nucleoside phosphorylase (PNP) (EC 2.4.2.1) (Inosine phosphorylase) (Inosine-guanosine phosphorylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; intracellular [GO:0005622]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; drug binding [GO:0008144]; nucleoside binding [GO:0001882]; phosphate ion binding [GO:0042301]; purine nucleobase binding [GO:0002060]; purine-nucleoside phosphorylase activity [GO:0004731]; immune response [GO:0006955]; inosine catabolic process [GO:0006148]; interleukin-2 secretion [GO:0070970]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; neutrophil degranulation [GO:0043312]; nicotinamide riboside catabolic process [GO:0006738]; nucleobase-containing compound metabolic process [GO:0006139]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of T cell proliferation [GO:0042102]; purine nucleotide catabolic process [GO:0006195]; purine-containing compound salvage [GO:0043101]; response to drug [GO:0042493]; urate biosynthetic process [GO:0034418]

drug:
DB03609;DB01667;DB02796;DB00242;DB00900;DB02377;DB02857;DB04076;DB02230;DB04335;DB03881;DB02568;DB03101;

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:22509282}.


uniprotID: B2RU33
geneSymbol: POTEC
length: 542
go: ENSG00000183206;
name:
POTE ankyrin domain family member C (ANKRD26-like family B member 2) (Prostate, ovary, testis-expressed protein on chromosome 18) (POTE-18)

sequence:

snps:
rs28535987 rs45488295 rs45561536 rs45626231 rs9807633 rs45570841 rs9807555 rs45554841 rs45469098 rs12454500 rs7505568 


uniprotID: A5A3E0
geneSymbol: POTEF
name: POTE ankyrin domain family member F (ANKRD26-like family C member 1B) (Chimeric POTE-actin protein)
length: 1075
go: ENSG00000196604;
sequence:

opentargets:
blood microparticle [GO:0072562]; cell cortex [GO:0005938]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; retina homeostasis [GO:0001895]

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000269|PubMed:17101985}. Note=Colocalizes with actin filaments.


uniprotID: P62136
geneSymbol: PPP1CA
reactome: R-HSA-163560;R-HSA-180024;R-HSA-2173788;R-HSA-400253;
pdb: 3E7A;3E7B;3EGG;3EGH;3HVQ;3N5U;3V4Y;4G9J;4MOV;4MOY;4MP0;4XPN;5IOH;6ALZ;
name: Serine/threonine-protein phosphatase PP1-alpha catalytic subunit (PP-1A) (EC 3.1.3.16)
length: 330
go: ENSG00000172531;
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; glycogen granule [GO:0042587]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; protein phosphatase type 1 complex [GO:0000164]; PTW/PP1 phosphatase complex [GO:0072357]; cadherin binding involved in cell-cell adhesion [GO:0098641]; metal ion binding [GO:0046872]; phosphatase activity [GO:0016791]; phosphoprotein phosphatase activity [GO:0004721]; protein phosphatase 1 binding [GO:0008157]; protein serine/threonine phosphatase activity [GO:0004722]; ribonucleoprotein complex binding [GO:0043021]; beta-catenin destruction complex disassembly [GO:1904886]; branching morphogenesis of an epithelial tube [GO:0048754]; cell cycle [GO:0007049]; cell division [GO:0051301]; circadian regulation of gene expression [GO:0032922]; dephosphorylation [GO:0016311]; entrainment of circadian clock by photoperiod [GO:0043153]; glycogen metabolic process [GO:0005977]; lung development [GO:0030324]; negative regulation of protein binding [GO:0032091]; peptidyl-serine dephosphorylation [GO:0070262]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; protein dephosphorylation [GO:0006470]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of circadian rhythm [GO:0042752]; regulation of glycogen biosynthetic process [GO:0005979]; regulation of glycogen catabolic process [GO:0005981]; regulation of translational initiation by eIF2 alpha dephosphorylation [GO:0036496]; response to lead ion [GO:0010288]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P62136-1; Sequence=Displayed; Name=2; IsoId=P62136-2; Sequence=VSP_043377; Note=No experimental confirmation available.; Name=3; IsoId=P62136-3; Sequence=VSP_046754; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Primarily nuclear and largely excluded from the nucleolus. Highly mobile in cells and can be relocalized through interaction with targeting subunits. NOM1 plays a role in targeting this protein to the nucleolus. In the presence of PPP1R8 relocalizes from the nucleus to nuclear speckles.


uniprotID: Q96I34
geneSymbol: PPP1R16A
name: Protein phosphatase 1 regulatory subunit 16A (Myosin phosphatase-targeting subunit 3)
length: 528
go: ENSG00000160972;
opentargets: plasma membrane [GO:0005886]; protein phosphatase regulator activity [GO:0019888]
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.
sequence:


uniprotID: Q8N4B5
geneSymbol: PRR18
name: Proline-rich protein 18
length: 295
go: ENSG00000176381;
snps: rs7757150
sequence:


uniprotID: Q6MZM9
geneSymbol: PRR27
name: Proline-rich protein 27
length: 219
go: ENSG00000187533;
opentargets: extracellular exosome [GO:0070062]
snps: rs1612460 rs1613461
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q2NL68
geneSymbol: PROSER3
name: Proline and serine-rich protein 3
length: 480
go: ENSG00000167595;
snps: rs231219 rs231217
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q2NL68-1; Sequence=Displayed; Name=2; IsoId=Q2NL68-2; Sequence=VSP_027698, VSP_027701, VSP_027702, VSP_027703; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q2NL68-3; Sequence=VSP_027698, VSP_027699, VSP_027700; Note=No experimental confirmation available.; Name=4; IsoId=Q2NL68-4; Sequence=VSP_027699, VSP_027700; Note=No experimental confirmation available.; 


uniprotID: Q16651
geneSymbol: PRSS8
reactome: R-HSA-6809371;
pdb: 3DFJ;3DFL;3E0N;3E0P;3E16;3E1X;3FVF;3GYL;3GYM;
length: 343
go: ENSG00000052344;
drug: DB06900;
name:
Prostasin (EC 3.4.21.-) (Channel-activating protease 1) (CAP1) (Serine protease 8) [Cleaved into: Prostasin light chain; Prostasin heavy chain]

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of plasma membrane [GO:0019897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; endopeptidase activity [GO:0004175]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; sodium channel regulator activity [GO:0017080]; cornification [GO:0070268]; positive regulation of sodium ion transport [GO:0010765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16651-1; Sequence=Displayed; Name=2; IsoId=Q16651-2; Sequence=VSP_056632; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Prostasin: Cell membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Prostasin light chain: Secreted, extracellular space. Note=Found in the seminal fluid. Secreted after cleavage of its C-terminus.; SUBCELLULAR LOCATION: Prostasin heavy chain: Secreted, extracellular space. Note=Found in the seminal fluid. Secreted after cleavage of its C-terminus.


