# annotation

uniprotID: Q9NXK6
geneSymbol: PAQR5
length: 330
go: ENSG00000137819;
snps: rs17853893
name:
Membrane progestin receptor gamma (mPR gamma) (Membrane progesterone P4 receptor gamma) (Membrane progesterone receptor gamma) (Progesterone and adipoQ receptor family member 5) (Progestin and adipoQ receptor family member 5) (Progestin and adipoQ receptor family member V)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; steroid binding [GO:0005496]; multicellular organism development [GO:0007275]; oogenesis [GO:0048477]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000303|PubMed:23763432}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q6TCH4
geneSymbol: PAQR6
length: 344
go: ENSG00000160781;
snps: rs7513351
name:
Membrane progestin receptor delta (mPR delta) (Membrane progesterone P4 receptor delta) (Membrane progesterone receptor delta) (Progesterone and adipoQ receptor family member 6) (Progestin and adipoQ receptor family member 6)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; steroid binding [GO:0005496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6TCH4-1; Sequence=Displayed; Name=2; IsoId=Q6TCH4-2; Sequence=VSP_011484, VSP_011485; Name=3; IsoId=Q6TCH4-3; Sequence=VSP_011484; Name=4; IsoId=Q6TCH4-4; Sequence=VSP_011483; Name=5; IsoId=Q6TCH4-5; Sequence=VSP_054538; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23161870}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q6ZVX9
geneSymbol: PAQR9
length: 377
go: ENSG00000188582;
name:
Membrane progestin receptor epsilon (mPR epsilon) (Membrane progesterone P4 receptor epsilon) (Membrane progesterone receptor epsilon) (Progesterone and adipoQ receptor family member 9) (Progestin and adipoQ receptor family member 9) (Progestin and adipoQ receptor family member IX)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; steroid binding [GO:0005496]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23161870}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8WXA2
geneSymbol: PATE1
name: Prostate and testis expressed protein 1
length: 126
go: ENSG00000171053;
opentargets: extracellular region [GO:0005576]; acetylcholine receptor regulator activity [GO:0030548]
snps: rs537916 rs2114084
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MDKSLLLELPILLCCFRALSGSLSMRNDAVNEIVAVKNNFPVIEIVQCRMCHLQFPGEKCSRGRGICTATTEEACMVGRMFKRDGNPWLTFMGCLKNCADVKGIRWSVYLVNFRCCRSHDLCNEDL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXA2-1; Sequence=Displayed; Name=2; IsoId=Q8WXA2-2; Sequence=VSP_030533; 


uniprotID: P0C8F1
geneSymbol: PATE4
name: Prostate and testis expressed protein 4 (PATE-like protein B) (PATE-B)
sequence: MRKMNTLLLVSLSFLYLKEVMGLKCNTCIYTEGWKCMAGRGTCIAKENELCSTTAYFRGDKHMYSTHMCKYKCREEESSKRGLLRVTLCCDRNFCNVF
length: 98
go: ENSG00000237353;
opentargets:
acrosomal vesicle [GO:0001669]; extracellular space [GO:0005615]; acetylcholine receptor regulator activity [GO:0030548]; regulation of neurotransmitter receptor activity [GO:0099601]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:18387948}.


uniprotID: Q9H300
geneSymbol: PARL
reactome: R-HSA-8949664;
length: 379
go: ENSG00000175193;
snps: rs4912470 rs3732581
name:
Presenilins-associated rhomboid-like protein, mitochondrial (EC 3.4.21.105) (Mitochondrial intramembrane cleaving protease PARL) [Cleaved into: P-beta (Pbeta)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; nucleus [GO:0005634]; endopeptidase activity [GO:0004175]; serine-type endopeptidase activity [GO:0004252]; membrane protein proteolysis [GO:0033619]; proteolysis [GO:0006508]; regulation of mitochondrion organization [GO:0010821]; regulation of protein targeting to mitochondrion [GO:1903214]; regulation of proteolysis [GO:0030162]; regulation of reactive oxygen species metabolic process [GO:2000377]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H300-1; Sequence=Displayed; Name=2; IsoId=Q9H300-2; Sequence=VSP_013310; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:17116872}; Multi-pass membrane protein {ECO:0000269|PubMed:17116872}.; SUBCELLULAR LOCATION: P-beta: Nucleus {ECO:0000269|PubMed:17116872}. Note=Translocated into the nucleus by an unknown mechanism (PubMed:17116872). {ECO:0000269|PubMed:17116872}.


uniprotID: Q9HBI1
geneSymbol: PARVB
reactome: R-HSA-446353;R-HSA-446388;
pdb: 4EDL;4EDM;4EDN;
name: Beta-parvin (Affixin)
length: 364
go: ENSG00000188677;
snps: rs34476853 rs1983609
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; actin binding [GO:0003779]; actin cytoskeleton reorganization [GO:0031532]; cell projection assembly [GO:0030031]; establishment or maintenance of cell polarity [GO:0007163]; establishment or maintenance of cell polarity regulating cell shape [GO:0071963]; lamellipodium assembly [GO:0030032]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HBI1-1; Sequence=Displayed; Name=2; IsoId=Q9HBI1-2; Sequence=VSP_041336; Name=3; IsoId=Q9HBI1-3; Sequence=VSP_045555; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cytoplasm, myofibril, sarcomere. Cytoplasm, myofibril, sarcomere, Z line. Note=Constituent of focal adhesions. Detected at the tips of the leading edge of cells. Colocalizes with F-actin at the tips of lamellipodia.


uniprotID: Q86TB9
geneSymbol: PATL1
reactome: R-HSA-430039;
pdb: 2XEQ;2XER;2XES;
name: Protein PAT1 homolog 1 (PAT1-like protein 1) (Protein PAT1 homolog b) (Pat1b) (hPat1b)
length: 770
go: ENSG00000166889;
sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; P-body [GO:0000932]; PML body [GO:0016605]; poly(G) binding [GO:0034046]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; cytoplasmic mRNA processing body assembly [GO:0033962]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86TB9-1; Sequence=Displayed; Name=2; IsoId=Q86TB9-2; Sequence=VSP_031778; Name=3; IsoId=Q86TB9-3; Sequence=VSP_031777; Name=4; IsoId=Q86TB9-4; Sequence=VSP_040576, VSP_040577; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body. Nucleus. Nucleus, PML body. Nucleus speckle. Note=Predominantly cytoplasmic. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Enriched in splicing speckles. Localization to nuclear foci and speckles requires active transcription. Excluded from the nucleolus.


uniprotID: Q96IZ0
geneSymbol: PAWR
pdb: 2JK9;
name: PRKC apoptosis WT1 regulator protein (Prostate apoptosis response 4 protein) (Par-4)
length: 340
go: ENSG00000177425;
snps: rs8176804 rs8176805 rs8176806 rs8176870
sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; actin binding [GO:0003779]; enzyme binding [GO:0019899]; leucine zipper domain binding [GO:0043522]; transcription corepressor activity [GO:0003714]; actin filament bundle assembly [GO:0051017]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; interleukin-2 biosynthetic process [GO:0042094]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of amyloid precursor protein biosynthetic process [GO:0042986]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cellular senescence [GO:2000774]; positive regulation of gene expression [GO:0010628]; positive regulation of hydrogen peroxide-mediated programmed cell death [GO:1901300]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly cytoplasmic in absence of apoptosis signal and in normal cells. Nuclear in most cancer cell lines. Nuclear entry seems to be essential but not sufficient for apoptosis (By similarity). Nuclear localization includes nucleoplasm and PML nuclear bodies. {ECO:0000250}.


uniprotID: Q9BUH6
geneSymbol: PAXX
pdb: 3WTD;3WTF;4WJA;
name: Protein PAXX (Paralog of XRCC4 and XLF) (XRCC4-like small protein)
length: 204
go: ENSG00000148362;
sequence:

opentargets:
nonhomologous end joining complex [GO:0070419]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein-containing complex scaffold activity [GO:0032947]; cellular response to DNA damage stimulus [GO:0006974]; DNA ligation involved in DNA repair [GO:0051103]; double-strand break repair via nonhomologous end joining [GO:0006303]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUH6-1; Sequence=Displayed; Name=2; IsoId=Q9BUH6-2; Sequence=VSP_024996, VSP_024997; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25574025, ECO:0000269|PubMed:25670504}. Note=Predominantly localizes to the nucleus. Accumulates at sites of DNA damage generated by laser microirradiation. {ECO:0000269|PubMed:25574025, ECO:0000269|PubMed:25670504}.


uniprotID: P26367
geneSymbol: PAX6
reactome: R-HSA-210745;R-HSA-381771;R-HSA-400511;R-HSA-5617472;
pdb: 2CUE;6PAX;
name: Paired box protein Pax-6 (Aniridia type II protein) (Oculorhombin)
length: 422
go: ENSG00000007372;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; co-SMAD binding [GO:0070410]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone acetyltransferase binding [GO:0035035]; HMG box domain binding [GO:0071837]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; R-SMAD binding [GO:0070412]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; animal organ morphogenesis [GO:0009887]; astrocyte differentiation [GO:0048708]; axon guidance [GO:0007411]; blood vessel development [GO:0001568]; cell fate determination [GO:0001709]; cellular response to leukemia inhibitory factor [GO:1990830]; central nervous system development [GO:0007417]; cerebral cortex regionalization [GO:0021796]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; cornea development in camera-type eye [GO:0061303]; dorsal/ventral axis specification [GO:0009950]; embryonic camera-type eye morphogenesis [GO:0048596]; establishment of mitotic spindle orientation [GO:0000132]; eye development [GO:0001654]; eye photoreceptor cell development [GO:0042462]; forebrain dorsal/ventral pattern formation [GO:0021798]; forebrain-midbrain boundary formation [GO:0021905]; glucose homeostasis [GO:0042593]; habenula development [GO:0021986]; iris morphogenesis [GO:0061072]; keratinocyte differentiation [GO:0030216]; lacrimal gland development [GO:0032808]; lens development in camera-type eye [GO:0002088]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of neural precursor cell proliferation [GO:2000178]; negative regulation of neurogenesis [GO:0050768]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of protein phosphorylation [GO:0001933]; neuron fate commitment [GO:0048663]; neuron migration [GO:0001764]; oligodendrocyte cell fate specification [GO:0021778]; pancreatic A cell development [GO:0003322]; pituitary gland development [GO:0021983]; positive regulation of epithelial cell differentiation [GO:0030858]; positive regulation of gene expression [GO:0010628]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to organelle [GO:0033365]; regulation of asymmetric cell division [GO:0009786]; regulation of cell migration [GO:0030334]; regulation of timing of cell differentiation [GO:0048505]; regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment [GO:0021918]; 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 wounding [GO:0009611]; retina development in camera-type eye [GO:0060041]; salivary gland morphogenesis [GO:0007435]; signal transduction involved in regulation of gene expression [GO:0023019]; smoothened signaling pathway [GO:0007224]; transcription by RNA polymerase II [GO:0006366]; type B pancreatic cell differentiation [GO:0003309]; visual perception [GO:0007601]

snps:
rs121907913 rs121907920 rs121907923 rs121907928 rs121907919 rs121907918 rs749244084 rs757259413 rs121907927 rs121907925 rs373661718 rs200015827 rs1392343463 rs121907926 rs780356070 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P26367-1; Sequence=Displayed; Name=5a; Synonyms=Pax6-5a; IsoId=P26367-2; Sequence=VSP_002366; Name=3; Synonyms=Pax6-5A,6*; IsoId=P26367-3; Sequence=Not described; 


uniprotID: Q9BVG4
geneSymbol: PBDC1
name: Protein PBDC1 (Polysaccharide biosynthesis domain-containing protein 1)
length: 233
go: ENSG00000102390;
sequence:


uniprotID: P23511
geneSymbol: NFYA
reactome: R-HSA-1989781;R-HSA-2426168;R-HSA-380994;R-HSA-381183;
pdb: 4AWL;
length: 347
go: ENSG00000001167;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Nuclear transcription factor Y subunit alpha (CAAT box DNA-binding protein subunit A) (Nuclear transcription factor Y subunit A) (NF-YA)

sequence:

opentargets:
CCAAT-binding factor complex [GO:0016602]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of transcription, DNA-templated [GO:0006355]; rhythmic process [GO:0048511]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P23511-1; Sequence=Displayed; Name=Short; IsoId=P23511-2; Sequence=VSP_000849; 


uniprotID: Q9Y2I1
geneSymbol: NISCH
pdb: 3P0C;
length: 1504
go: ENSG00000010322;
drug: DB08838;DB09242;DB00697;
snps: rs9856575 rs887515
name:
Nischarin (Imidazoline receptor 1) (I-1) (IR1) (Imidazoline receptor antisera-selected protein) (hIRAS) (Imidazoline-1 receptor) (I1R) (Imidazoline-1 receptor candidate protein) (I-1 receptor candidate protein) (I1R candidate protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; membrane [GO:0016020]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; phosphatidylinositol binding [GO:0035091]; protein kinase binding [GO:0019901]; structural constituent of cytoskeleton [GO:0005200]; actin cytoskeleton organization [GO:0030036]; apoptotic process [GO:0006915]; glucose metabolic process [GO:0006006]; negative regulation of cell migration [GO:0030336]; norepinephrine secretion [GO:0048243]; Rac protein signal transduction [GO:0016601]; regulation of blood pressure [GO:0008217]; regulation of synaptic transmission, GABAergic [GO:0032228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IRAS-1, IRAS-M; IsoId=Q9Y2I1-1; Sequence=Displayed; Name=2; IsoId=Q9Y2I1-2; Sequence=VSP_035131; Name=3; Synonyms=IRAS-L; IsoId=Q9Y2I1-3; Sequence=VSP_035132, VSP_035135; Name=4; Synonyms=IRAS-S; IsoId=Q9Y2I1-4; Sequence=VSP_035133, VSP_035134; 

location:
SUBCELLULAR LOCATION: Cell membrane. Cytoplasm. Early endosome. Recycling endosome. Note=Enriched in the early/sorting and recycling endosomes. Colocalized in early/sorting endosomes with EEA1 and SNX2 and in recycling endosomes with transferrin receptor. Detected in the perinuclear region partially associated with punctate structures (By similarity). Colocalizes with PAK1 in cytoplasm, vesicular structures in the perinuclear area and membrane ruffles (By similarity). Colocalizes with RAC1 in the cytoplasm and vesicles structures (By similarity). Colocalized with MAPK1 and MAPK3 in RVLM neurons (By similarity). {ECO:0000250}.


uniprotID: P30419
geneSymbol: NMT1
reactome: R-HSA-162599;R-HSA-2514859;R-HSA-75108;
pdb: 1RXT;3IU1;3IU2;3IWE;3JTK;4C2Y;4C2Z;5MU6;5NPQ;5O6H;5O6J;5O9S;5O9T;5O9U;5O9V;5UUT;
length: 496
go: ENSG00000136448;
drug: DB03062;
snps: rs3087878
name:
Glycylpeptide N-tetradecanoyltransferase 1 (EC 2.3.1.97) (Myristoyl-CoA:protein N-myristoyltransferase 1) (NMT 1) (Type I N-myristoyltransferase) (Peptide N-myristoyltransferase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; glycylpeptide N-tetradecanoyltransferase activity [GO:0004379]; myristoyltransferase activity [GO:0019107]; cellular ketone metabolic process [GO:0042180]; in utero embryonic development [GO:0001701]; N-terminal peptidyl-glycine N-myristoylation [GO:0018008]; N-terminal protein myristoylation [GO:0006499]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; regulation of rhodopsin mediated signaling pathway [GO:0022400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P30419-1; Sequence=Displayed; Name=Short; IsoId=P30419-2; Sequence=VSP_003570; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9353336, ECO:0000269|PubMed:9506952}. Cytoplasm, cytosol {ECO:0000269|PubMed:9353336}. Membrane {ECO:0000269|PubMed:9506952}; Peripheral membrane protein {ECO:0000269|PubMed:9506952}. Note=Copurifies with ribosomes. {ECO:0000269|PubMed:9353336}.


uniprotID: P69849
geneSymbol: NOMO3
name: Nodal modulator 3 (pM5 protein 3)
length: 1222
go: ENSG00000103226;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q5SRE5
geneSymbol: NUP188
pdb: 5IJO;
name: Nucleoporin NUP188 homolog (hNup188)
length: 1749
go: ENSG00000095319;
snps: rs17433024 rs12350674
location: SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000305}.
sequence:

opentargets:
membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear pore inner ring [GO:0044611]; structural constituent of nuclear pore [GO:0017056]; glomerular visceral epithelial cell migration [GO:0090521]; mRNA export from nucleus [GO:0006406]; protein import into nucleus [GO:0006606]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SRE5-1; Sequence=Displayed; Name=2; IsoId=Q5SRE5-2; Sequence=VSP_027585; 


uniprotID: P04629
geneSymbol: NTRK1
length: 796
go: ENSG00000198400;
drug: DB00321;DB00619;DB08896;
reactome:
R-HSA-167021;R-HSA-167044;R-HSA-170968;R-HSA-170984;R-HSA-177504;R-HSA-187024;R-HSA-187042;R-HSA-187706;R-HSA-198203;R-HSA-198745;

pdb:
1HE7;1SHC;1WWA;1WWW;2IFG;2N90;4AOJ;4CRP;4F0I;4GT5;4PMM;4PMP;4PMS;4PMT;4YNE;4YPS;5H3Q;5I8A;5JFS;5JFV;5JFW;5JFX;5KMI;5KMJ;5KMK;5KML;5KMM;5KMN;5KMO;5KVT;5WR7;6D1Y;6D1Z;6D20;6DKB;6DKG;6DKI;

name:
High affinity nerve growth factor receptor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 1) (TRK1-transforming tyrosine kinase protein) (Tropomyosin-related kinase A) (Tyrosine kinase receptor) (Tyrosine kinase receptor A) (Trk-A) (gp140trk) (p140-TrkA)

sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; GPI-linked ephrin receptor activity [GO:0005004]; kinase binding [GO:0019900]; nerve growth factor binding [GO:0048406]; nerve growth factor receptor activity [GO:0010465]; neurotrophin binding [GO:0043121]; neurotrophin p75 receptor binding [GO:0005166]; neurotrophin receptor activity [GO:0005030]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; activation of MAPKK activity [GO:0000186]; aging [GO:0007568]; axon guidance [GO:0007411]; axonogenesis involved in innervation [GO:0060385]; B cell differentiation [GO:0030183]; behavioral response to formalin induced pain [GO:0061368]; cell differentiation [GO:0030154]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to nicotine [GO:0071316]; circadian rhythm [GO:0007623]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; learning or memory [GO:0007611]; mechanoreceptor differentiation [GO:0042490]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of signal transduction [GO:0009968]; nerve growth factor signaling pathway [GO:0038180]; neuron development [GO:0048666]; neuron projection development [GO:0031175]; neurotrophin TRK receptor signaling pathway [GO:0048011]; olfactory nerve development [GO:0021553]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of angiogenesis [GO:0045766]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of neuron projection development [GO:0010976]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of programmed cell death [GO:0043068]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; programmed cell death involved in cell development [GO:0010623]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; response to axon injury [GO:0048678]; response to electrical stimulus [GO:0051602]; response to hydrostatic pressure [GO:0051599]; response to nutrient levels [GO:0031667]; response to radiation [GO:0009314]; Sertoli cell development [GO:0060009]; sympathetic nervous system development [GO:0048485]

snps:
rs201472270 rs1007211 rs55891455 rs543320028 rs540521894 rs747711259 rs55909005 rs56000394 rs35116695 rs121964869 rs56320207 rs34900547 rs144901788 rs606231467 rs55892037 rs121964866 rs121964870 rs6336 rs6339 rs786205449 rs369353892 rs764992664 rs80356677 rs121964868 rs770727871 rs1324983370 rs35669708 rs35669708 rs55948542 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=TrkA-I and TrkA-II isoforms have similar biological properties but are differentially expressed.; Name=TrkA-II; Synonyms=TrkAII; IsoId=P04629-1; Sequence=Displayed; Note=Major isoform.; Name=TrkA-I; Synonyms=TrkAI; IsoId=P04629-2; Sequence=VSP_002899; Note=Has enhanced responsiveness to NTF3 neurotrophin.; Name=3; IsoId=P04629-3; Sequence=VSP_041905, VSP_002899; Name=TrkA-III; Synonyms=TrkAIII; IsoId=P04629-4; Sequence=VSP_042152, VSP_002899; Note=Constitutively active. Does not bind NGF and does not interact with GRB2 and FRS2.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1281417, ECO:0000269|PubMed:15488758, ECO:0000269|PubMed:17196528, ECO:0000269|PubMed:27676246, ECO:0000269|PubMed:2927393}; Single-pass type I membrane protein {ECO:0000269|PubMed:1281417, ECO:0000269|PubMed:15488758}. Early endosome membrane {ECO:0000250|UniProtKB:P35739}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P35739}. Late endosome membrane {ECO:0000250|UniProtKB:P35739}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P35739}. Note=Rapidly internalized after NGF binding (PubMed:1281417). Internalized to endosomes upon binding of NGF or NTF3 and further transported to the cell body via a retrograde axonal transport. Localized at cell membrane and early endosomes before nerve growth factor (NGF) stimulation. Recruited to late endosomes after NGF stimulation. Colocalized with RAPGEF2 at late endosomes. {ECO:0000250|UniProtKB:P35739, ECO:0000269|PubMed:1281417}.


uniprotID: P03923
geneSymbol: MT-ND6
reactome: R-HSA-611105;R-HSA-6799198;
pdb: 5XTC;5XTD;
name: NADH-ubiquinone oxidoreductase chain 6 (EC 7.1.1.2) (NADH dehydrogenase subunit 6)
length: 174
go: ENSG00000198695;
drug: DB00157;
sequence:
MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; respiratory chain [GO:0070469]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; mitochondrial respiratory chain complex I assembly [GO:0032981]; response to cocaine [GO:0042220]; response to hydrogen peroxide [GO:0042542]; response to nicotine [GO:0035094]

snps:
rs387906424 rs41354845 rs386829219 rs397515506 rs201327354 rs869025186 rs199476106 rs199476109 rs199476108 rs199476104 rs199476105 rs199476107 rs200933339 

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


uniprotID: Q9H1E3
geneSymbol: NUCKS1
name: Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 (P1)
length: 243
go: ENSG00000069275;
snps: rs3207505 rs17355035
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; double-stranded DNA binding [GO:0003690]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; transcription factor binding [GO:0008134]; cellular glucose homeostasis [GO:0001678]; cellular response to X-ray [GO:0071481]; chromatin organization [GO:0006325]; double-strand break repair via homologous recombination [GO:0000724]; gene conversion [GO:0035822]; interstrand cross-link repair [GO:0036297]; modulation by host of RNA binding by virus [GO:1990968]; modulation by host of viral RNA-binding transcription factor activity [GO:1990969]; positive regulation by host of viral genome replication [GO:0044829]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of insulin receptor signaling pathway [GO:0046628]; regulation of DNA replication [GO:0006275]; regulation of DNA strand elongation [GO:0060382]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of transcription by RNA polymerase II [GO:0006357]; release from viral latency [GO:0019046]; replication fork processing [GO:0031297]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H1E3-1; Sequence=Displayed; Name=2; IsoId=Q9H1E3-2; Sequence=VSP_021770; 


uniprotID: P53384
geneSymbol: NUBP1
reactome: R-HSA-2564830;
name: Cytosolic Fe-S cluster assembly factor NUBP1 (Nucleotide-binding protein 1) (NBP 1)
length: 320
go: ENSG00000103274;
snps: rs2233531
sequence:

opentargets:
centriole [GO:0005814]; cilium [GO:0005929]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 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]; cellular iron ion homeostasis [GO:0006879]; centrosome localization [GO:0051642]; iron-sulfur cluster assembly [GO:0016226]; negative regulation of centrosome duplication [GO:0010826]; protein localization to cell cortex [GO:0072697]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53384-1; Sequence=Displayed; Name=2; IsoId=P53384-2; Sequence=VSP_029043; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03038, ECO:0000269|PubMed:18573874}. Nucleus {ECO:0000250|UniProtKB:Q9R060}. Cell projection {ECO:0000250|UniProtKB:Q9R060}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q9R060}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q9R060}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000250|UniProtKB:Q9R060}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q9R060}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Enriched in centrioles of microtubule asters during prophase, prometaphase and telophase stages of mitosis. Localized at centrioles and in the nucleus at interphase. Colocalizes with nubp-2 at prometaphase. Specifically localizes to the axenome of motile cilia as opposed to primary non-motile cilia. Localization is independent of NUBP2 and KIFC1. {ECO:0000250|UniProtKB:Q9R060}.


uniprotID: P19338
geneSymbol: NCL
reactome: R-HSA-6791226;
pdb: 2FC8;2FC9;2KRR;
name: Nucleolin (Protein C23)
length: 710
go: ENSG00000115053;
snps: rs11542691 rs11542687 rs11542689
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasmic ribonucleoprotein granule [GO:0036464]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; DNA topoisomerase binding [GO:0044547]; identical protein binding [GO:0042802]; mRNA 5'-UTR binding [GO:0048027]; protein C-terminus binding [GO:0008022]; RNA binding [GO:0003723]; telomeric DNA binding [GO:0042162]; angiogenesis [GO:0001525]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to leukemia inhibitory factor [GO:1990830]; negative regulation of translation [GO:0017148]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: Q8TB37
geneSymbol: NUBPL
reactome: R-HSA-6799198;
name: Iron-sulfur protein NUBPL (IND1 homolog) (Nucleotide-binding protein-like) (huInd1)
length: 319
go: ENSG00000151413;
snps: rs200401432 rs397515440 rs552722349 rs11558436
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19752196}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; 4 iron, 4 sulfur cluster binding [GO:0051539]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; iron-sulfur cluster assembly [GO:0016226]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrion morphogenesis [GO:0070584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TB37-1; Sequence=Displayed; Name=2; IsoId=Q8TB37-2; Sequence=VSP_020985, VSP_008797; Note=May be due to exon skipping.; 


uniprotID: A0A024RBG1
geneSymbol: NUDT4B
length: 181
go: ENSG00000173598;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9NZJ9}.
name:
Diphosphoinositol polyphosphate phosphohydrolase NUDT4B (DIPP-2B) (EC 3.6.1.52) (Nucleoside diphosphate-linked moiety X motif 4B) (Nudix motif 4B) (Nudix hydrolase 4B)

sequence:
MMKFKPNQTRTYDREGFKKRAACLCFRSEQEDEVLLVSSSRYPDQWIVPGGGMEPEEEPGGAAVREVYEEAGVKGKLGRLLGIFEQNQDRKHRTYVYVLTVTEILEDWEDSVNIGRKREWFKVEDAIKVLQCHKPVHAEYLEKLKLGCSPANGNSTVPSLPDNNALFVTAAQTSGLPSSVR

opentargets:
cytosol [GO:0005829]; diphosphoinositol-polyphosphate diphosphatase activity [GO:0008486]; inositol diphosphate tetrakisphosphate diphosphatase activity [GO:0052840]; inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity [GO:0052846]; inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity [GO:0052847]; inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity [GO:0052843]; inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity [GO:0052848]; inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity [GO:0052844]; inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity [GO:0052845]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]


uniprotID: Q96RS6
geneSymbol: NUDCD1
length: 583
go: ENSG00000120526;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]; immune system process [GO:0002376]
snps: rs2980619 rs2980618 rs34660136 rs11550169
name:
NudC domain-containing protein 1 (Chronic myelogenous leukemia tumor antigen 66) (Tumor antigen CML66)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11416219, ECO:0000269|PubMed:14702039}; Synonyms=CML66-L {ECO:0000269|PubMed:14688378}; IsoId=Q96RS6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14688378, ECO:0000269|Ref.3}; Synonyms=CML66-S {ECO:0000269|PubMed:14688378}; IsoId=Q96RS6-2; Sequence=VSP_052558, VSP_052559; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q96RS6-3; Sequence=VSP_052557, VSP_052560; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus.


uniprotID: Q8WVJ2
geneSymbol: NUDCD2
name: NudC domain-containing protein 2
length: 157
go: ENSG00000170584;
sequence:
MSAPFEERSGVVPCGTPWGQWYQTLEEVFIEVQVPPGTRAQDIQCGLQSRHVALSVGGREILKGKLFDSTIADEGTWTLEDRKMVRIVLTKTKRDAANCWTSLLESEYAADPWVQDQMQRKLTLERFQKENPGFDFSGAEISGNYTKGGPDFSNLEK

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; intracellular [GO:0005622]; microtubule organizing center [GO:0005815]; spindle pole [GO:0000922]; unfolded protein binding [GO:0051082]; developmental process [GO:0032502]; protein folding [GO:0006457]

location:
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20133715}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20133715}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:20133715}. Note=Associates with centrosomes in interphase and to spindle poles and kinetochores during mitosis.


uniprotID: Q8IVD9
geneSymbol: NUDCD3
pdb: 1WGV;
name: NudC domain-containing protein 3
length: 361
go: ENSG00000015676;
snps: rs307007 rs11550029
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; unfolded protein binding [GO:0051082]; cilium assembly [GO:0060271]; developmental process [GO:0032502]; protein folding [GO:0006457]; protein localization to pericentriolar material [GO:1905793]


uniprotID: Q07869
geneSymbol: PPARA
pdb: 1I7G;1K7L;1KKQ;2NPA;2P54;2REW;2ZNN;3ET1;3FEI;3G8I;3KDT;3KDU;3SP6;3VI8;4BCR;4CI4;5AZT;5HYK;
length: 468
go: ENSG00000186951;
drug: DB07724;DB08915;DB01393;DB00636;DB01039;DB01241;DB05187;DB00328;DB01708;DB04971;
snps: rs1800204 rs1800206 rs1800234 rs1042311 rs1800242 rs2229245 rs1800243
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-381340;R-HSA-383280;R-HSA-400206;R-HSA-400253;R-HSA-4090294;

name:
Peroxisome proliferator-activated receptor alpha (PPAR-alpha) (Nuclear receptor subfamily 1 group C member 1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; drug binding [GO:0008144]; fatty acid binding [GO:0005504]; lipid binding [GO:0008289]; MDM2/MDM4 family protein binding [GO:0097371]; NFAT protein binding [GO:0051525]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; phosphatase binding [GO:0019902]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription coactivator binding [GO:0001223]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; ubiquitin conjugating enzyme binding [GO:0031624]; zinc ion binding [GO:0008270]; behavioral response to nicotine [GO:0035095]; cell differentiation [GO:0030154]; circadian regulation of gene expression [GO:0032922]; enamel mineralization [GO:0070166]; epidermis development [GO:0008544]; fatty acid metabolic process [GO:0006631]; fatty acid transport [GO:0015908]; heart development [GO:0007507]; hormone-mediated signaling pathway [GO:0009755]; lipid metabolic process [GO:0006629]; lipoprotein metabolic process [GO:0042157]; multicellular organism development [GO:0007275]; negative regulation of appetite [GO:0032099]; negative regulation of blood pressure [GO:0045776]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of glycolytic process [GO:0045820]; negative regulation of inflammatory response [GO:0050728]; negative regulation of leukocyte cell-cell adhesion [GO:1903038]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; negative regulation of neuron death [GO:1901215]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of protein binding [GO:0032091]; negative regulation of receptor biosynthetic process [GO:0010871]; negative regulation of sequestering of triglyceride [GO:0010891]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of fatty acid oxidation [GO:0046321]; positive regulation of gluconeogenesis [GO:0045722]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter [GO:0072366]; regulation of circadian rhythm [GO:0042752]; regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter [GO:0072363]; regulation of lipid metabolic process [GO:0019216]; regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter [GO:0072369]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to lipid [GO:0033993]; transcription initiation from RNA polymerase II promoter [GO:0006367]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07869-1; Sequence=Displayed; Name=2; IsoId=Q07869-2; Sequence=VSP_047571, VSP_047572; 


uniprotID: Q6ZVK8
geneSymbol: NUDT18
reactome: R-HSA-2393930;
pdb: 3GG6;4HVY;
length: 323
go: ENSG00000275074;
name:
8-oxo-dGDP phosphatase NUDT18 (EC 3.6.1.58) (2-hydroxy-dADP phosphatase) (7,8-dihydro-8-oxoguanine phosphatase) (MutT homolog 3) (Nucleoside diphosphate-linked moiety X motif 18) (Nudix motif 18)

sequence:

opentargets:
cytosol [GO:0005829]; 8-hydroxy-dADP phosphatase activity [GO:0044717]; 8-oxo-dGDP phosphatase activity [GO:0044715]; 8-oxo-GDP phosphatase activity [GO:0044716]; magnesium ion binding [GO:0000287]; dADP catabolic process [GO:0046057]; dGDP catabolic process [GO:0046067]; GDP catabolic process [GO:0046712]; nucleobase-containing small molecule catabolic process [GO:0034656]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZVK8-1; Sequence=Displayed; Name=2; IsoId=Q6ZVK8-2; Sequence=VSP_032276, VSP_032277; Note=No experimental confirmation available.; 


uniprotID: A8MXV4
geneSymbol: NUDT19
reactome: R-HSA-390918;R-HSA-9033241;
name: Nucleoside diphosphate-linked moiety X motif 19 (Nudix motif 19) (EC 3.6.1.-)
length: 375
go: ENSG00000213965;
snps: rs10413282
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; acyl-CoA hydrolase activity [GO:0047617]; metal ion binding [GO:0046872]; signaling receptor binding [GO:0005102]; fatty acid catabolic process [GO:0009062]; protein targeting to peroxisome [GO:0006625]


uniprotID: Q9BRQ3
geneSymbol: NUDT22
pdb: 5LF9;5LOR;5LOU;
length: 303
go: ENSG00000149761;
snps: rs2286612 rs34448455 rs633561 rs633557
name:
Uridine diphosphate glucose pyrophosphatase (UDPG pyrophosphatase) (UGPPase) (EC 3.6.1.45) (Nucleoside diphosphate-linked moiety X motif 22) (Nudix motif 22)

sequence:

opentargets:
nucleoplasm [GO:0005654]; GDP-mannose hydrolase activity [GO:0052751]; metal ion binding [GO:0046872]; UDP-sugar diphosphatase activity [GO:0008768]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRQ3-1; Sequence=Displayed; Name=2; IsoId=Q9BRQ3-2; Sequence=VSP_021884; Name=3; IsoId=Q9BRQ3-3; Sequence=VSP_053790; Note=No experimental confirmation.; 


uniprotID: Q9Y266
geneSymbol: NUDC
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;R-HSA-68884;
pdb: 3QOR;
name: Nuclear migration protein nudC (Nuclear distribution protein C homolog)
length: 331
go: ENSG00000090273;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]; unfolded protein binding [GO:0051082]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell proliferation [GO:0008283]; developmental process [GO:0032502]; multicellular organism development [GO:0007275]; protein folding [GO:0006457]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Nucleus. Note=In a filamentous pattern adjacent to the nucleus of migrating cerebellar granule cells. Colocalizes with tubulin and dynein and with the microtubule organizing center. Distributed throughout the cytoplasm of non-migrating cells. A small proportion is nuclear, in a punctate pattern.


uniprotID: P37231
geneSymbol: PPARG
reactome: R-HSA-1989781;R-HSA-381340;R-HSA-383280;R-HSA-4090294;R-HSA-8943724;
length: 505
go: ENSG00000132170;
snps: rs1801282 rs1805192 rs1800571 rs121909242 rs28936407 rs72551362 rs72551363 rs72551364 rs121909244
pdb:
1FM6;1FM9;1I7I;1K74;1KNU;1NYX;1PRG;1RDT;1WM0;1ZEO;1ZGY;2ATH;2F4B;2FVJ;2G0G;2G0H;2GTK;2HFP;2HWQ;2HWR;2I4J;2I4P;2I4Z;2OM9;2P4Y;2POB;2PRG;2Q59;2Q5P;2Q5S;2Q61;2Q6R;2Q6S;2Q8S;2QMV;2VSR;2VST;2VV0;2VV1;2VV2;2VV3;2VV4;2XKW;2YFE;2ZK0;2ZK1;2ZK2;2ZK3;2ZK4;2ZK5;2ZK6;2ZNO;2ZVT;3ADS;3ADT;3ADU;3ADV;3ADW;3ADX;3AN3;3AN4;3B0Q;3B0R;3B1M;3B3K;3BC5;3CDP;3CDS;3CS8;3CWD;3D6D;3DZU;3DZY;3E00;3ET0;3ET3;3FEJ;3FUR;3G9E;3GBK;3H0A;3HO0;3HOD;3IA6;3K8S;3KMG;3LMP;3NOA;3OSI;3OSW;3PBA;3PO9;3PRG;3QT0;3R5N;3R8A;3R8I;3S9S;3SZ1;3T03;3TY0;3U9Q;3V9T;3V9V;3V9Y;3VJH;3VJI;3VN2;3VSO;3VSP;3WJ4;3WJ5;3WMH;3X1H;3X1I;4A4V;4A4W;4CI5;4E4K;4E4Q;4EM9;4EMA;4F9M;4FGY;4HEE;4JAZ;4JL4;4L96;4L98;4O8F;4OJ4;4PRG;4PVU;4PWL;4R06;4R2U;4R6S;4XLD;4XTA;4XUH;4XUM;4Y29;4YT1;5AZV;5DSH;5DV3;5DV6;5DV8;5DVC;5DWL;5F9B;5GTN;5GTO;5GTP;5HZC;5JI0;5LSG;5TTO;5TWO;5U5L;5UGM;5WQX;5WR0;5WR1;5Y2O;5Y2T;5YCN;5YCP;6AN1;6AUG;6AVI;6C5Q;6C5T;6ENQ;6F2L;

name:
Peroxisome proliferator-activated receptor gamma (PPAR-gamma) (Nuclear receptor subfamily 1 group C member 3)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; RNA polymerase II transcription factor complex [GO:0090575]; activating transcription factor binding [GO:0033613]; alpha-actinin binding [GO:0051393]; arachidonic acid binding [GO:0050544]; chromatin binding [GO:0003682]; DBD domain binding [GO:0050692]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; double-stranded DNA binding [GO:0003690]; drug binding [GO:0008144]; E-box binding [GO:0070888]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; fatty acid binding [GO:0005504]; identical protein binding [GO:0042802]; LBD domain binding [GO:0050693]; lipid binding [GO:0008289]; nuclear receptor activity [GO:0004879]; nuclear receptor transcription coactivator activity [GO:0030374]; peptide binding [GO:0042277]; prostaglandin receptor activity [GO:0004955]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein phosphatase binding [GO:0019903]; protein self-association [GO:0043621]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; retinoid X receptor binding [GO:0046965]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II repressing transcription factor binding [GO:0001103]; signaling receptor activity [GO:0038023]; steroid hormone receptor activity [GO:0003707]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; animal organ regeneration [GO:0031100]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; cell maturation [GO:0048469]; cellular response to hyperoxia [GO:0071455]; cellular response to insulin stimulus [GO:0032869]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cellular response to prostaglandin E stimulus [GO:0071380]; cellular response to retinoic acid [GO:0071300]; cellular response to vitamin E [GO:0071306]; epithelial cell differentiation [GO:0030855]; fatty acid metabolic process [GO:0006631]; fatty acid oxidation [GO:0019395]; glucose homeostasis [GO:0042593]; heart development [GO:0007507]; hormone-mediated signaling pathway [GO:0009755]; innate immune response [GO:0045087]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; lipoprotein transport [GO:0042953]; long-chain fatty acid transport [GO:0015909]; low-density lipoprotein particle receptor biosynthetic process [GO:0045713]; macrophage derived foam cell differentiation [GO:0010742]; monocyte differentiation [GO:0030224]; multicellular organism development [GO:0007275]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell growth [GO:0030308]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of gene silencing by miRNA [GO:0060965]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; negative regulation of pancreatic stellate cell proliferation [GO:2000230]; negative regulation of receptor biosynthetic process [GO:0010871]; negative regulation of sequestering of triglyceride [GO:0010891]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of telomerase activity [GO:0051974]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of vascular endothelial cell proliferation [GO:1905563]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; peroxisome proliferator activated receptor signaling pathway [GO:0035357]; placenta development [GO:0001890]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of fatty acid oxidation [GO:0046321]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular associated smooth muscle cell apoptotic process [GO:1905461]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of blood pressure [GO:0008217]; regulation of cholesterol transporter activity [GO:0060694]; regulation of circadian rhythm [GO:0042752]; regulation of lipid metabolic process [GO:0019216]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription involved in cell fate commitment [GO:0060850]; response to caffeine [GO:0031000]; response to cold [GO:0009409]; response to estrogen [GO:0043627]; response to immobilization stress [GO:0035902]; response to lipid [GO:0033993]; response to mechanical stimulus [GO:0009612]; response to metformin [GO:1901558]; response to nutrient [GO:0007584]; response to retinoic acid [GO:0032526]; response to starvation [GO:0042594]; response to vitamin A [GO:0033189]; rhythmic process [GO:0048511]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]; white fat cell differentiation [GO:0050872]

drug:
DB08760;DB07842;DB08121;DB07675;DB04270;DB07863;DB04689;DB07053;DB07723;DB08302;DB08560;DB07724;DB08915;DB01014;DB01393;DB05854;DB07509;DB05187;DB01067;DB01050;DB00159;DB00328;DB00244;DB01252;DB00731;DB01132;DB04971;DB00912;DB00412;DB00795;DB05490;DB00966;DB00197;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=2; IsoId=P37231-1; Sequence=Displayed; Name=1; Synonyms=PPARgamma1(wt); IsoId=P37231-2; Sequence=VSP_003645; Name=3; Synonyms=PPARgamma1(tr); IsoId=P37231-3; Sequence=VSP_003645, VSP_043906, VSP_043907; Note=Exhibits dominant negative activity over isoform 1.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Redistributed from the nucleus to the cytosol through a MAP2K1/MEK1-dependent manner. NOCT enhances its nuclear translocation.


uniprotID: Q9BZG2
geneSymbol: ACP4
name: Testicular acid phosphatase (EC 3.1.3.2) (Acid phosphatase 4)
length: 426
go: ENSG00000142513;
snps: rs1057519277 rs902112287 rs202073531 rs767907487 rs779823931 rs763573828
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; postsynaptic membrane [GO:0045211]; acid phosphatase activity [GO:0003993]; protein tyrosine phosphatase activity [GO:0004725]; receptor tyrosine kinase binding [GO:0030971]; negative regulation of ERBB4 signaling pathway [GO:0120154]; negative regulation of neuron projection development [GO:0010977]; negative regulation of protein processing [GO:0010955]; odontogenesis [GO:0042476]; peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity [GO:1990264]; regulation of neuronal synaptic plasticity [GO:0048168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZG2-1; Sequence=Displayed; Name=2; Synonyms=Variant 3; IsoId=Q9BZG2-2; Sequence=VSP_021494; Name=3; Synonyms=Truncated variant 1, Truncated variant 2; IsoId=Q9BZG2-3; Sequence=VSP_021493, VSP_021495; 


uniprotID: P05187
geneSymbol: ALPP
reactome: R-HSA-6811438;
pdb: 1EW2;1ZEB;1ZED;1ZEF;2GLQ;3MK0;3MK1;3MK2;
length: 535
go: ENSG00000163283;
drug: DB08413;
snps: rs1130335 rs13026692 rs1048988 rs2853378 rs1048994
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
Alkaline phosphatase, placental type (EC 3.1.3.1) (Alkaline phosphatase Regan isozyme) (Placental alkaline phosphatase 1) (PLAP-1)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; alkaline phosphatase activity [GO:0004035]; magnesium ion binding [GO:0000287]; zinc ion binding [GO:0008270]


uniprotID: P09923
geneSymbol: ALPI
reactome: R-HSA-1483166;R-HSA-163125;R-HSA-8935690;
name: Intestinal-type alkaline phosphatase (IAP) (Intestinal alkaline phosphatase) (EC 3.1.3.1)
length: 528
go: ENSG00000163295;
snps: rs7559279 rs1047223
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; alkaline phosphatase activity [GO:0004035]; magnesium ion binding [GO:0000287]; protease binding [GO:0002020]; zinc ion binding [GO:0008270]; dephosphorylation [GO:0016311]; digestion [GO:0007586]; phosphatidic acid biosynthetic process [GO:0006654]


uniprotID: P10696
geneSymbol: ALPG
reactome: R-HSA-163125;
length: 532
go: ENSG00000163286;
drug: DB01143;DB00848;DB09322;
snps: rs17416141 rs183793479 rs1048999
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
Alkaline phosphatase, germ cell type (EC 3.1.3.1) (ALP-1) (Alkaline phosphatase Nagao isozyme) (Alkaline phosphatase, placental-like) (Germ cell alkaline phosphatase) (GCAP) (Placental alkaline phosphatase-like) (PLAP-like)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; alkaline phosphatase activity [GO:0004035]; metal ion binding [GO:0046872]


uniprotID: P05186
geneSymbol: ALPL
reactome: R-HSA-163125;
length: 524
go: ENSG00000162551;
drug: DB01143;DB06716;
name:
Alkaline phosphatase, tissue-nonspecific isozyme (AP-TNAP) (TNSALP) (EC 3.1.3.1) (Alkaline phosphatase liver/bone/kidney isozyme)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular membrane-bounded organelle [GO:0065010]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886]; alkaline phosphatase activity [GO:0004035]; metal ion binding [GO:0046872]; pyrophosphatase activity [GO:0016462]; cellular response to organic cyclic compound [GO:0071407]; cementum mineralization [GO:0071529]; developmental process involved in reproduction [GO:0003006]; endochondral ossification [GO:0001958]; osteoblast differentiation [GO:0001649]; response to antibiotic [GO:0046677]; response to glucocorticoid [GO:0051384]; response to lipopolysaccharide [GO:0032496]; response to vitamin D [GO:0033280]; skeletal system development [GO:0001501]

snps:
rs121918005 rs770093969 rs1470389268 rs121918001 rs121918003 rs121918003 rs121918001 rs1304394441 rs1057521085 rs121918015 rs773257111 rs121918013 rs954135116 rs1159854007 rs786204530 rs780583917 rs121918011 rs1376937780 rs149344982 rs760029254 rs121918012 rs778232217 rs121918019 rs199669988 rs121918000 rs199590449 rs763159520 rs121918007 rs121918004 rs199665722 rs766076920 rs1226800998 rs1223142821 rs121918018 rs3200254 rs781272386 rs781272386 rs1237252052 rs786204473 rs765458125 rs121918002 rs1220125702 rs121918017 rs763457259 rs121918010 rs121918009 rs121918008 rs771540767 rs371243939 rs1442918125 rs121918014 rs121918006 rs138690664 rs150799088 rs966212736 rs121918016 rs1054159992 rs1196976671 rs1413274209 rs34605986 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P05186-1; Sequence=Displayed; Name=2; IsoId=P05186-2; Sequence=VSP_042711; Note=No experimental confirmation available.; Name=3; IsoId=P05186-3; Sequence=VSP_044228; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23688511, ECO:0000269|PubMed:25982064}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:23688511, ECO:0000269|PubMed:25982064}.


uniprotID: Q4J6C6
geneSymbol: PREPL
name: Prolyl endopeptidase-like (EC 3.4.21.-) (Prolylendopeptidase-like)
length: 727
go: ENSG00000138078;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16385448}.
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; serine-type endopeptidase activity [GO:0004252]; serine-type exopeptidase activity [GO:0070008]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4J6C6-1; Sequence=Displayed; Name=2; Synonyms=D; IsoId=Q4J6C6-2; Sequence=VSP_030403; Note=No experimental confirmation available.; Name=3; Synonyms=E; IsoId=Q4J6C6-3; Sequence=VSP_030402; Note=No experimental confirmation available.; Name=4; IsoId=Q4J6C6-4; Sequence=VSP_030401; 


uniprotID: P48147
geneSymbol: PREP
pdb: 3DDU;
name: Prolyl endopeptidase (PE) (EC 3.4.21.26) (Post-proline cleaving enzyme)
length: 710
go: ENSG00000085377;
drug: DB01684;DB08738;DB03864;DB00107;DB03382;DB03535;
snps: rs12192054 rs1051484
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; endopeptidase activity [GO:0004175]; oligopeptidase activity [GO:0070012]; serine-type endopeptidase activity [GO:0004252]; serine-type exopeptidase activity [GO:0070008]; serine-type peptidase activity [GO:0008236]; proteolysis [GO:0006508]


uniprotID: Q9HAB8
geneSymbol: PPCS
reactome: R-HSA-196783;
pdb: 1P9O;
length: 311
go: ENSG00000127125;
name:
Phosphopantothenate--cysteine ligase (EC 6.3.2.5) (Phosphopantothenoylcysteine synthetase) (PPC synthetase)

sequence:

opentargets:
cytosol [GO:0005829]; phosphopantothenate--cysteine ligase activity [GO:0004632]; coenzyme A biosynthetic process [GO:0015937]; coenzyme biosynthetic process [GO:0009108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAB8-1; Sequence=Displayed; Name=2; IsoId=Q9HAB8-2; Sequence=VSP_045796; Note=No experimental confirmation available.; 


uniprotID: Q9UKL6
geneSymbol: PCTP
reactome: R-HSA-1483191;R-HSA-77289;
pdb: 1LN1;1LN2;1LN3;
length: 214
go: ENSG00000141179;
drug: DB04372;DB02306;
snps: rs12941739
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P53808}.
name:
Phosphatidylcholine transfer protein (PC-TP) (START domain-containing protein 2) (StARD2) (StAR-related lipid transfer protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine transporter activity [GO:0008525]; lipid transport [GO:0006869]; negative regulation of cold-induced thermogenesis [GO:0120163]; phosphatidylcholine biosynthetic process [GO:0006656]; phospholipid transport [GO:0015914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKL6-1; Sequence=Displayed; Name=2; IsoId=Q9UKL6-2; Sequence=VSP_041363; 


uniprotID: Q8TAP8
geneSymbol: PPP1R35
name: Protein phosphatase 1 regulatory subunit 35
length: 253
go: ENSG00000160813;
sequence:

opentargets:
phosphatase binding [GO:0019902]; protein phosphatase inhibitor activity [GO:0004864]; negative regulation of phosphatase activity [GO:0010923]


uniprotID: Q96LQ0
geneSymbol: PPP1R36
name: Protein phosphatase 1 regulatory subunit 36
length: 422
go: ENSG00000165807;
snps: rs6573560 rs45482504
sequence:

opentargets:
phosphatase binding [GO:0019902]; protein phosphatase inhibitor activity [GO:0004864]; negative regulation of phosphatase activity [GO:0010923]


uniprotID: O75864
geneSymbol: PPP1R37
name: Protein phosphatase 1 regulatory subunit 37 (Leucine-rich repeat-containing protein 68)
length: 691
go: ENSG00000104866;
sequence:

opentargets:
protein phosphatase inhibitor activity [GO:0004864]; negative regulation of phosphatase activity [GO:0010923]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75864-1; Sequence=Displayed; Name=2; IsoId=O75864-2; Sequence=VSP_031754, VSP_031755; Note=Due to an intron retention. No experimental confirmation available.; 


uniprotID: Q16821
geneSymbol: PPP1R3A
length: 1122
go: ENSG00000154415;
opentargets: integral component of membrane [GO:0016021]; glycogen metabolic process [GO:0005977]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
name:
Protein phosphatase 1 regulatory subunit 3A (Protein phosphatase 1 glycogen-associated regulatory subunit) (Protein phosphatase type-1 glycogen targeting subunit) (RG1)

sequence:

snps:
rs8192687 rs7801819 rs2974942 rs2974944 rs35067467 rs4304271 rs2974938 rs1800000 rs1799999 rs35449651 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16821-1; Sequence=Displayed; Name=2; IsoId=Q16821-2; Sequence=VSP_011585, VSP_011586; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q86XI6
geneSymbol: PPP1R3B
pdb: 2EEF;
length: 285
go: ENSG00000173281;
snps: rs3748140
name:
Protein phosphatase 1 regulatory subunit 3B (Hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL) (Protein phosphatase 1 regulatory subunit 4) (PP1 subunit R4) (Protein phosphatase 1 subunit GL) (PTG)

sequence:

opentargets:
glycogen granule [GO:0042587]; intracellular membrane-bounded organelle [GO:0043231]; protein phosphatase type 1 complex [GO:0000164]; [phosphorylase] phosphatase activity [GO:0050196]; enzyme binding [GO:0019899]; protein phosphatase regulator activity [GO:0019888]; glycogen metabolic process [GO:0005977]; regulation of glycogen biosynthetic process [GO:0005979]; regulation of glycogen catabolic process [GO:0005981]


uniprotID: Q9UQK1
geneSymbol: PPP1R3C
reactome: R-HSA-3322077;R-HSA-3785653;
length: 317
go: ENSG00000119938;
snps: rs7089948 rs373998228
name:
Protein phosphatase 1 regulatory subunit 3C (Protein phosphatase 1 regulatory subunit 5) (PP1 subunit R5) (Protein targeting to glycogen) (PTG)

sequence:

opentargets:
cytosol [GO:0005829]; protein phosphatase binding [GO:0019903]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine phosphatase activity [GO:0004722]; glycogen biosynthetic process [GO:0005978]; glycogen metabolic process [GO:0005977]


uniprotID: O95685
geneSymbol: PPP1R3D
length: 299
go: ENSG00000132825;
name:
Protein phosphatase 1 regulatory subunit 3D (Protein phosphatase 1 regulatory subunit 6) (PP1 subunit R6) (Protein phosphatase 1-binding subunit R6)

sequence:

opentargets:
glycogen granule [GO:0042587]; intracellular membrane-bounded organelle [GO:0043231]; enzyme binding [GO:0019899]; protein serine/threonine phosphatase activity [GO:0004722]; glycogen metabolic process [GO:0005977]; regulation of glycogen biosynthetic process [GO:0005979]; regulation of glycogen catabolic process [GO:0005981]


uniprotID: Q9H7J1
geneSymbol: PPP1R3E
name: Protein phosphatase 1 regulatory subunit 3E
length: 279
go: ENSG00000235194;
sequence:

opentargets:
glycogen granule [GO:0042587]; [phosphorylase] phosphatase activity [GO:0050196]; glycogen metabolic process [GO:0005977]; positive regulation of glycogen biosynthetic process [GO:0045725]


uniprotID: Q6ZSY5
geneSymbol: PPP1R3F
name: Protein phosphatase 1 regulatory subunit 3F (R3F)
length: 799
go: ENSG00000049769;
snps: rs17148347
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; glycogen binding [GO:2001069]; protein phosphatase binding [GO:0019903]; regulation of glycogen (starch) synthase activity [GO:2000465]; regulation of glycogen biosynthetic process [GO:0005979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZSY5-1; Sequence=Displayed; Name=2; IsoId=Q6ZSY5-2; Sequence=VSP_045003, VSP_045004; Note=No experimental confirmation available.; 


uniprotID: Q7Z4L9
geneSymbol: PPP1R42
name: Protein phosphatase 1 regulatory subunit 42 (Leucine-rich repeat-containing protein 67)
length: 309
go: ENSG00000178125;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; manchette [GO:0002177]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; actin binding [GO:0003779]; dynein complex binding [GO:0070840]; tubulin binding [GO:0015631]; regulation of phosphatase activity [GO:0010921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4L9-1; Sequence=Displayed; Note=Derived from EST data. No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q7Z4L9-2; Sequence=VSP_032587, VSP_032588; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8R1Z4}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8R1Z4}. Note=Colocalizes with alpha tubulin to the manchette of developing spermatids. Detected to nuclear rim in pachytene spermatocytes. Detected at nuclear surface, opposite the acrosome in elongating spermatids. Detected at the microtubule-organizing center (MTOC). Localized to the centrosomal region of late-stage spermatids (By similarity). {ECO:0000250|UniProtKB:Q8R1Z4}.


uniprotID: Q9H208
geneSymbol: OR10A2
reactome: R-HSA-381753;
name: Olfactory receptor 10A2 (HP4) (Olfactory receptor OR11-86)
length: 303
snps: rs3930075 rs2741764 rs10839631 rs10839632 rs7926083
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96KK4
geneSymbol: OR10C1
reactome: R-HSA-381753;
name: Olfactory receptor 10C1 (Hs6M1-17) (Olfactory receptor 10C2)
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

snps:
rs17184016 rs2074469 rs11755182 rs17177632 rs17177639 rs17177646 rs2074468 rs2074467 rs2074466 rs2074464 rs17177674 rs11968123 


uniprotID: Q8NGC4
geneSymbol: OR10G3
reactome: R-HSA-381753;
name: Olfactory receptor 10G3 (Olfactory receptor OR14-40)
length: 313
go: ENSG00000169208;
snps: rs17792778
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH90
geneSymbol: OR5AK2
reactome: R-HSA-381753;
name: Olfactory receptor 5AK2
length: 309
snps: rs10896563 rs12420424 rs2853083
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGI8
geneSymbol: OR5AN1
reactome: R-HSA-381753;
name: Olfactory receptor 5AN1 (Olfactory receptor OR11-244)
length: 311
go: ENSG00000176495;
snps: rs7941190
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; odorant binding [GO:0005549]; olfactory receptor activity [GO:0004984]; detection of chemical stimulus involved in sensory perception [GO:0050907]; G protein-coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:24361078, ECO:0000305|PubMed:25901328}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8N127
geneSymbol: OR5AS1
reactome: R-HSA-381753;
name: Olfactory receptor 5AS1 (Olfactory receptor OR11-168)
length: 324
snps: rs12224086 rs17600939
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q5JRS4
geneSymbol: OR10J3
reactome: R-HSA-381753;
name: Olfactory receptor 10J3
length: 329
go: ENSG00000196266;
snps: rs11265165
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH63
geneSymbol: OR51H1
reactome: R-HSA-381753;
name: Olfactory receptor 51H1 (Olfactory receptor OR11-25)
length: 302
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H342
geneSymbol: OR51J1
reactome: R-HSA-381753;
name: Olfactory receptor 51J1 (Odorant receptor HOR5'beta8) (Olfactory receptor 51J2)
length: 316
snps: rs1909261
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH70
geneSymbol: OR4A16
reactome: R-HSA-381753;
name: Olfactory receptor 4A16 (Olfactory receptor OR11-117)
length: 328
snps: rs11229158 rs12807769 rs10896659
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O43614
geneSymbol: HCRTR2
reactome: R-HSA-389397;R-HSA-416476;
pdb: 4S0V;5WQC;5WS3;
name: Orexin receptor type 2 (Ox-2-R) (Ox2-R) (Ox2R) (Hypocretin receptor type 2)
length: 444
go: ENSG00000137252;
drug: DB09034;
snps: rs41271310 rs41271312 rs74720027 rs2653349
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]; orexin receptor activity [GO:0016499]; peptide hormone binding [GO:0017046]; chemical synaptic transmission [GO:0007268]; circadian sleep/wake cycle process [GO:0022410]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; regulation of circadian sleep/wake cycle, wakefulness [GO:0010840]; regulation of cytosolic calcium ion concentration [GO:0051480]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26950369, ECO:0000269|PubMed:9491897, ECO:0000305|PubMed:25533960}; Multi-pass membrane protein {ECO:0000269|PubMed:25533960}.


uniprotID: Q01804
geneSymbol: OTUD4
name: OTU domain-containing protein 4 (EC 3.4.19.12) (HIV-1-induced protein HIN-1)
length: 1114
go: ENSG00000164164;
snps: rs36225458 rs36225838 rs148857745
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; Lys63-specific deubiquitinase activity [GO:0061578]; protein-containing complex scaffold activity [GO:0032947]; RNA binding [GO:0003723]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; innate immune response [GO:0045087]; negative regulation of interleukin-1-mediated signaling pathway [GO:2000660]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; positive regulation of DNA demethylation [GO:1901537]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; regulation of protein K48-linked deubiquitination [GO:1903093]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q01804-1; Sequence=Displayed; Note=Gene prediction based on similarity to orthologs and partial EST data.; Name=2; IsoId=Q01804-5; Sequence=VSP_038830, VSP_053825; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=3; IsoId=Q01804-3; Sequence=VSP_038830; Name=4; IsoId=Q01804-4; Sequence=VSP_038830, VSP_021671; Note=Predicted from a chimeric transcript isolated from HIV-1-infected cells. The premature stop may be due to intron retention.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25944111}. Nucleus {ECO:0000269|PubMed:25944111}. Note=Primarily cytoplasmic. {ECO:0000269|PubMed:25944111}.


uniprotID: Q96KW2
geneSymbol: POM121L2
name: POM121-like protein 2
length: 1035
go: ENSG00000158553;
sequence:

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


uniprotID: Q96RQ9
geneSymbol: IL4I1
reactome: R-HSA-71182;
pdb: 2I8H;
length: 567
go: ENSG00000104951;
drug: DB04166;DB04272;DB03147;DB03214;
snps: rs2290772
name:
L-amino-acid oxidase (LAAO) (LAO) (EC 1.4.3.2) (Interleukin-4-induced protein 1) (IL4-induced protein 1) (Protein Fig-1) (hFIG1)

sequence:

opentargets:
extracellular region [GO:0005576]; lysosome [GO:0005764]; L-amino-acid oxidase activity [GO:0001716]; oxidoreductase activity [GO:0016491]; cellular amino acid catabolic process [GO:0009063]; L-phenylalanine catabolic process [GO:0006559]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RQ9-1; Sequence=Displayed; Name=2; Synonyms=IL4I1_2; IsoId=Q96RQ9-2; Sequence=VSP_017173; Note=Uses the promoter of the upstream NUP62 gene and shares the first 2 non-coding exons with NUP62.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Lysosome {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Lysosome {ECO:0000250}.


uniprotID: E9PI22
geneSymbol: PRR23D1
name: Proline-rich protein 23D1
length: 279
sequence:


uniprotID: Q5R387
geneSymbol: PLA2G2C
length: 149
go: ENSG00000187980;
snps: rs6426616
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Putative inactive group IIC secretory phospholipase A2 (Phosphatidylcholine 2-acylhydrolase-like protein GIIC)

sequence:
MKVIAILTLLLFCSPTHSSFWQFQRRVKHITGRSAFFSYYGYGCYCGLGDKGIPVDDTDRHSPSSPSPYEKLKEFSCQPVLNSYQFHIVNGAVVCGCTLGPGASCHCRLKACECDKQSVHCFKESLPTYEKNFKQFSSQPRCGRHKPWC

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; phospholipase A2 activity [GO:0004623]; phospholipid binding [GO:0005543]; arachidonic acid secretion [GO:0050482]; lipid catabolic process [GO:0016042]; phospholipid metabolic process [GO:0006644]


uniprotID: Q15004
geneSymbol: PCLAF
reactome: R-HSA-5656169;
pdb: 4D2G;6EHT;6GWS;
length: 111
go: ENSG00000166803;ENSG00000259316;
snps: rs11554313
name:
PCNA-associated factor (Hepatitis C virus NS5A-transactivated protein 9) (HCV NS5A-transactivated protein 9) (Overexpressed in anaplastic thyroid carcinoma 1) (OEATC-1) (PCNA-associated factor of 15 kDa) (PAF15) (p15PAF) (PCNA-clamp-associated factor)

sequence:
MVRTKADSVPGTYRKVVAARAPRKVLGSSTSATNSTSVSSRKAENKYAGGNPVCVRPTPKWQKGIGEFFRLSPKDSEKENQIPEEAGSSGLGKAKRKACPLQPDHTNDEKE

opentargets:
centrosome [GO:0005813]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; chromatin binding [GO:0003682]; cellular response to DNA damage stimulus [GO:0006974]; centrosome cycle [GO:0007098]; DNA replication [GO:0006260]; regulation of cell cycle [GO:0051726]; response to UV [GO:0009411]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15004-1; Sequence=Displayed; Name=2; IsoId=Q15004-2; Sequence=VSP_045659; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11313979, ECO:0000269|PubMed:16288740, ECO:0000269|PubMed:21673012, ECO:0000269|PubMed:23000965}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21673012}. Note=Following DNA damage, localizes to DNA damage sites (PubMed:21628590). Colocalizes with centrosomes in perinuclear region (PubMed:21673012).


uniprotID: Q9ULW8
geneSymbol: PADI3
reactome: R-HSA-3247509;
length: 664
go: ENSG00000142619;
drug: DB00155;
snps: rs3750300 rs142129409 rs2272629 rs144080386 rs781009577 rs34097903 rs144944758 rs35624745
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27866708}.
name:
Protein-arginine deiminase type-3 (EC 3.5.3.15) (Peptidylarginine deiminase III) (Protein-arginine deiminase type III)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; protein-arginine deiminase activity [GO:0004668]; histone citrullination [GO:0036414]; protein citrullination [GO:0018101]


uniprotID: Q504Q3
geneSymbol: PAN2
reactome: R-HSA-429947;
length: 1202
go: ENSG00000135473;
snps: rs11558139 rs1918496 rs1330054285
name:
PAN2-PAN3 deadenylation complex catalytic subunit PAN2 (EC 3.1.13.4) (Inactive ubiquitin carboxyl-terminal hydrolase 52) (PAB1P-dependent poly(A)-specific ribonuclease) (Poly(A)-nuclease deadenylation complex subunit 2) (PAN deadenylation complex subunit 2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932]; PAN complex [GO:0031251]; 3'-5'-exoribonuclease activity [GO:0000175]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; poly(A)-specific ribonuclease activity [GO:0004535]; mRNA processing [GO:0006397]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cytoplasmic mRNA processing body assembly [GO:0010606]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q504Q3-1; Sequence=Displayed; Name=2; IsoId=Q504Q3-2; Sequence=VSP_023749; Name=3; IsoId=Q504Q3-3; Sequence=VSP_023748; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14583602, ECO:0000269|PubMed:16284618}. Cytoplasm, P-body {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:18625844, ECO:0000269|PubMed:23398456}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:16284618}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000255|HAMAP-Rule:MF_03182, ECO:0000269|PubMed:16284618}.


uniprotID: Q86V24
geneSymbol: ADIPOR2
reactome: R-HSA-163680;
pdb: 3WXW;5LWY;5LX9;5LXA;
length: 386
go: ENSG00000006831;
snps: rs12298275
name:
Adiponectin receptor protein 2 (Progestin and adipoQ receptor family member 2) (Progestin and adipoQ receptor family member II)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; adipokinetic hormone receptor activity [GO:0097003]; adiponectin binding [GO:0055100]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; signaling receptor activity [GO:0038023]; adiponectin-activated signaling pathway [GO:0033211]; fatty acid oxidation [GO:0019395]; female pregnancy [GO:0007565]; glucose homeostasis [GO:0042593]; heart development [GO:0007507]; hormone-mediated signaling pathway [GO:0009755]; negative regulation of cell growth [GO:0030308]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of glucose import [GO:0046326]; regulation of fatty acid biosynthetic process [GO:0042304]; response to nutrient [GO:0007584]; vascular wound healing [GO:0061042]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}; Multi-pass membrane protein {ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}. Note=Localized to the cell membrane and intracellular organelles. {ECO:0000269|PubMed:12802337}.


uniprotID: O00254
geneSymbol: F2RL2
reactome: R-HSA-375276;R-HSA-416476;R-HSA-456926;
length: 374
go: ENSG00000164220;
snps: rs2069649 rs2069700 rs2069683
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Proteinase-activated receptor 3 (PAR-3) (Coagulation factor II receptor-like 2) (Thrombin receptor-like 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; G protein-coupled receptor activity [GO:0004930]; phosphatidylinositol phospholipase C activity [GO:0004435]; thrombin-activated receptor activity [GO:0015057]; blood coagulation [GO:0007596]; G protein-coupled receptor signaling pathway [GO:0007186]; platelet activation [GO:0030168]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of Rho protein signal transduction [GO:0035025]; response to wounding [GO:0009611]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00254-1; Sequence=Displayed; Name=2; IsoId=O00254-2; Sequence=VSP_045116; 


uniprotID: Q86WK9
geneSymbol: PAQR7
length: 346
go: ENSG00000182749;
snps: rs55948644 rs6689014
name:
Membrane progestin receptor alpha (mPR alpha) (Membrane progesterone P4 receptor alpha) (Membrane progesterone receptor alpha) (Progesterone and adipoQ receptor family member 7) (Progestin and adipoQ receptor family member 7) (Progestin and adipoQ receptor family member VII)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; steroid binding [GO:0005496]; multicellular organism development [GO:0007275]; oogenesis [GO:0048477]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000303|PubMed:23763432}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8TEZ7
geneSymbol: PAQR8
length: 354
go: ENSG00000170915;
name:
Membrane progestin receptor beta (mPR beta) (Lysosomal membrane protein in brain 1) (Membrane progesterone P4 receptor beta) (Membrane progesterone receptor beta) (Progesterone and adipoQ receptor family member 8) (Progestin and adipoQ receptor family member 8) (Progestin and adipoQ receptor family member VIII)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; steroid binding [GO:0005496]; multicellular organism development [GO:0007275]; oogenesis [GO:0048477]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11676489, ECO:0000303|PubMed:23763432}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with a lysosomal protein CTSD/cathepsin D. {ECO:0000269|PubMed:11676489}.


uniprotID: Q15546
geneSymbol: MMD
length: 238
go: ENSG00000108960;
name:
Monocyte to macrophage differentiation factor (Progestin and adipoQ receptor family member 11) (Progestin and adipoQ receptor family member XI)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; protein kinase activity [GO:0004672]; signaling receptor activity [GO:0038023]; cytolysis [GO:0019835]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of protein kinase activity [GO:0045860]; regulation of protein localization [GO:0032880]

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Lysosome membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q460N5
geneSymbol: PARP14
reactome: R-HSA-197264;
length: 1801
go: ENSG00000173193;
pdb:
3GOY;3Q6Z;3Q71;3SE2;3SMI;3SMJ;3VFQ;4ABK;4ABL;4D86;4F1L;4F1Q;4PY4;5LXP;5LYH;5NQE;5O2D;5V7T;5V7W;6G0W;

name:
Poly [ADP-ribose] polymerase 14 (PARP-14) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 8) (ARTD8) (B aggressive lymphoma protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; NAD+ binding [GO:0070403]; innate immune response [GO:0045087]; negative regulation of gene expression [GO:0010629]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; positive regulation of interleukin-4-mediated signaling pathway [GO:1902216]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein ADP-ribosylation [GO:0006471]; protein poly-ADP-ribosylation [GO:0070212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=6; IsoId=Q460N5-6; Sequence=Displayed; Name=1; Synonyms=BAL2B; IsoId=Q460N5-1; Sequence=VSP_040876; Name=3; Synonyms=BAL2A; IsoId=Q460N5-3; Sequence=VSP_020014; Name=4; IsoId=Q460N5-4; Sequence=VSP_020018, VSP_020019; Name=5; IsoId=Q460N5-5; Sequence=VSP_020013, VSP_020017; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q2EMV9}. Cytoplasm {ECO:0000269|PubMed:27796300}. Note=In steady state splenocytes the protein is mostly nuclear (By similarity). A minor proportion is detected in the cytoplasm (By similarity). In macrophages, mainly localizes to the cytoplasm (PubMed:27796300). {ECO:0000250|UniProtKB:Q2EMV9, ECO:0000269|PubMed:27796300}.


uniprotID: Q8TEW0
geneSymbol: PARD3
reactome: R-HSA-2173791;R-HSA-420029;
pdb: 2KOM;
length: 1356
go: ENSG00000148498;
snps: rs1436731 rs199923448 rs3758459 rs1114167354
name:
Partitioning defective 3 homolog (PAR-3) (PARD-3) (Atypical PKC isotype-specific-interacting protein) (ASIP) (CTCL tumor antigen se2-5) (PAR3-alpha)

sequence:

opentargets:
adherens junction [GO:0005912]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; axonal growth cone [GO:0044295]; bicellular tight junction [GO:0005923]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; internode region of axon [GO:0033269]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein phosphatase binding [GO:0019903]; asymmetric cell division [GO:0008356]; axonogenesis [GO:0007409]; bicellular tight junction assembly [GO:0070830]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; establishment of cell polarity [GO:0030010]; establishment of epithelial cell polarity [GO:0090162]; establishment or maintenance of cell polarity [GO:0007163]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; microtubule cytoskeleton organization [GO:0000226]; myelination in peripheral nervous system [GO:0022011]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; positive regulation of myelination [GO:0031643]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; protein localization [GO:0008104]; protein targeting to membrane [GO:0006612]; protein-containing complex assembly [GO:0065003]; regulation of cellular localization [GO:0060341]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=1; Synonyms=A; IsoId=Q8TEW0-1; Sequence=Displayed; Name=2; Synonyms=B, La; IsoId=Q8TEW0-2; Sequence=VSP_007464; Name=3; Synonyms=C; IsoId=Q8TEW0-3; Sequence=VSP_007462, VSP_007463, VSP_007464, VSP_007465; Name=4; Synonyms=D; IsoId=Q8TEW0-4; Sequence=VSP_007469; Name=5; Synonyms=E; IsoId=Q8TEW0-5; Sequence=VSP_007462, VSP_007463, VSP_007464, VSP_007466, VSP_007468, VSP_007469; Name=6; Synonyms=F; IsoId=Q8TEW0-6; Sequence=VSP_007463, VSP_007464, VSP_007465; Name=7; Synonyms=Lb; IsoId=Q8TEW0-7; Sequence=VSP_007463, VSP_007464, VSP_007465, VSP_007469; Name=8; Synonyms=Sa; IsoId=Q8TEW0-8; Sequence=VSP_007464, VSP_007470, VSP_007471; Name=9; Synonyms=Sb; IsoId=Q8TEW0-9; Sequence=VSP_007463, VSP_007464, VSP_007465, VSP_007470, VSP_007471; Name=10; IsoId=Q8TEW0-10; Sequence=VSP_007464, VSP_007465, VSP_007467, VSP_007470, VSP_007471; Note=No experimental confirmation available.; Name=11; IsoId=Q8TEW0-11; Sequence=VSP_007463, VSP_007464; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endomembrane system {ECO:0000269|PubMed:20332120}. Cell junction {ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:27925688}. Cell junction, tight junction {ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:27925688}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q99NH2}. Cell membrane {ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:27925688}. Cytoplasm, cell cortex {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20332120}. Note=Localized along the cell-cell contact region. Colocalizes with PARD6A and PRKCI at epithelial tight junctions. Colocalizes with the cortical actin that overlays the meiotic spindle during metaphase I and metaphase II. Colocalized with SIRT2 in internode region of myelin sheat (By similarity). Presence of KRIT1, CDH5 and RAP1B is required for its localization to the cell junction. {ECO:0000250}.


uniprotID: P25116
geneSymbol: F2R
reactome: R-HSA-140875;R-HSA-375276;R-HSA-416476;R-HSA-456926;
pdb: 1NRN;1NRO;1NRP;1NRQ;1NRR;3BEF;3HKI;3HKJ;3LU9;3VW7;
name: Proteinase-activated receptor 1 (PAR-1) (Coagulation factor II receptor) (Thrombin receptor)
length: 425
go: ENSG00000181104;
drug: DB05692;DB05361;DB00086;DB09030;
snps: rs5893 rs2230849 rs2227832 rs1055103 rs17849599 rs2227799
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
caveola [GO:0005901]; cell surface [GO:0009986]; early endosome [GO:0005769]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; platelet dense tubular network [GO:0031094]; postsynaptic membrane [GO:0045211]; G protein-coupled receptor activity [GO:0004930]; G-protein alpha-subunit binding [GO:0001965]; G-protein beta-subunit binding [GO:0031681]; signaling receptor binding [GO:0005102]; thrombin-activated receptor activity [GO:0015057]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of MAPKK activity [GO:0000186]; anatomical structure morphogenesis [GO:0009653]; blood coagulation [GO:0007596]; cell-cell junction maintenance [GO:0045217]; connective tissue replacement involved in inflammatory response wound healing [GO:0002248]; establishment of synaptic specificity at neuromuscular junction [GO:0007529]; G protein-coupled receptor signaling pathway [GO:0007186]; homeostasis of number of cells within a tissue [GO:0048873]; inflammatory response [GO:0006954]; negative regulation of cell proliferation [GO:0008285]; negative regulation of glomerular filtration [GO:0003105]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of renin secretion into blood stream [GO:1900134]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; platelet activation [GO:0030168]; platelet dense granule organization [GO:0060155]; positive regulation of blood coagulation [GO:0030194]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vasoconstriction [GO:0045907]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of blood coagulation [GO:0030193]; regulation of interleukin-1 beta production [GO:0032651]; regulation of sensory perception of pain [GO:0051930]; release of sequestered calcium ion into cytosol [GO:0051209]; response to lipopolysaccharide [GO:0032496]; response to wounding [GO:0009611]; trans-synaptic signaling by endocannabinoid, modulating synaptic transmission [GO:0099553]


uniprotID: Q86W56
geneSymbol: PARG
reactome: R-HSA-110362;
pdb: 4A0D;4B1G;4B1H;4B1I;4B1J;5A7R;5LHB;
name: Poly(ADP-ribose) glycohydrolase (EC 3.2.1.143)
length: 976
go: ENSG00000227345;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; poly(ADP-ribose) glycohydrolase activity [GO:0004649]; ATP generation from poly-ADP-D-ribose [GO:1990966]; carbohydrate metabolic process [GO:0005975]; nucleotide-sugar metabolic process [GO:0009225]; regulation of DNA repair [GO:0006282]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=hPARG111; IsoId=Q86W56-1; Sequence=Displayed; Name=2; Synonyms=hPARG102; IsoId=Q86W56-2; Sequence=VSP_011769; Name=3; Synonyms=hPARG99; IsoId=Q86W56-3; Sequence=VSP_011770; Name=4; Synonyms=hPARG60; IsoId=Q86W56-4; Sequence=VSP_044675, VSP_044676, VSP_044677; Note=Catalytically inactive.; Name=5; Synonyms=hPARG55; IsoId=Q86W56-5; Sequence=VSP_044674, VSP_044677; Note=Catalytically inactive.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:16460818, ECO:0000269|PubMed:21398629}. Note=Colocalizes with PCNA at replication foci. Relocalizes to the cytoplasm in response to DNA damage.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:16460818}. Note=Translocates to the nucleus in response to DNA damage.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Mitochondrion.; SUBCELLULAR LOCATION: Isoform 5: Mitochondrion matrix.


uniprotID: Q2NL67
geneSymbol: PARP6
reactome: R-HSA-197264;
length: 630
go: ENSG00000137817;
name:
Poly [ADP-ribose] polymerase 6 (PARP-6) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 17) (ARTD17)

sequence:

opentargets:
intracellular [GO:0005622]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; positive regulation of dendrite morphogenesis [GO:0050775]; protein ADP-ribosylation [GO:0006471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2NL67-1; Sequence=Displayed; Name=2; IsoId=Q2NL67-2; Sequence=VSP_020965, VSP_020966; Name=3; IsoId=Q2NL67-3; Sequence=VSP_020963, VSP_020964; Note=No experimental confirmation available.; 


uniprotID: B3GLJ2
geneSymbol: PATE3
sequence: MNKHFLFLFLLYCLIVAVTSLQCITCHLRTRTDRCRRGFGVCTAQKGEACMLLRIYQRNTLQISYMVCQKFCRDMTFDLRNRTYVHTCCNYNYCNFKL
length: 98
go: ENSG00000236027;
opentargets: extracellular region [GO:0005576]
snps: rs1025165
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Prostate and testis expressed protein 3 (Acrosomal vesicle protein HEL-127) (PATE-like protein DJ) (PATE-DJ)


uniprotID: Q9NVD7
geneSymbol: PARVA
reactome: R-HSA-446343;R-HSA-446353;R-HSA-446388;
pdb: 2K2R;2VZC;2VZD;2VZG;2VZI;3KMU;3KMW;3REP;
length: 372
name:
Alpha-parvin (Actopaxin) (CH-ILKBP) (Calponin-like integrin-linked kinase-binding protein) (Matrix-remodeling-associated protein 2)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; actin cytoskeleton reorganization [GO:0031532]; actin-mediated cell contraction [GO:0070252]; cell projection assembly [GO:0030031]; cilium assembly [GO:0060271]; establishment or maintenance of cell polarity [GO:0007163]; heterotypic cell-cell adhesion [GO:0034113]; outflow tract septum morphogenesis [GO:0003148]; regulation of cell shape [GO:0008360]; smooth muscle cell chemotaxis [GO:0071670]; sprouting angiogenesis [GO:0002040]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVD7-1; Sequence=Displayed; Name=2; IsoId=Q9NVD7-2; Sequence=VSP_008884, VSP_008885; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Constituent of focal adhesions. Associates with the actin cytoskeleton.


uniprotID: Q14980
geneSymbol: NUMA1
reactome: R-HSA-380320;R-HSA-68875;
pdb: 3RO2;5GXW;
length: 2115
go: ENSG00000137497;
snps: rs34239655 rs3750913 rs34311364 rs7949430 rs35586429 rs5743685
name:
Nuclear mitotic apparatus protein 1 (Nuclear matrix protein-22) (NMP-22) (Nuclear mitotic apparatus protein) (NuMA protein) (SP-H antigen)

sequence:

opentargets:
cell cortex [GO:0005938]; cell cortex region [GO:0099738]; centrosome [GO:0005813]; chromosome [GO:0005694]; cortical microtubule [GO:0055028]; cytoplasmic microtubule bundle [GO:1905720]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extrinsic component of plasma membrane [GO:0019897]; Golgi membrane [GO:0000139]; lateral cell cortex [GO:0097575]; lateral plasma membrane [GO:0016328]; microtubule bundle [GO:0097427]; microtubule minus-end [GO:0036449]; microtubule plus-end [GO:0035371]; mitotic spindle [GO:0072686]; mitotic spindle astral microtubule [GO:0061673]; mitotic spindle midzone [GO:1990023]; mitotic spindle pole [GO:0097431]; neuronal cell body [GO:0043025]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; spindle pole [GO:0000922]; spindle pole centrosome [GO:0031616]; disordered domain specific binding [GO:0097718]; dynein complex binding [GO:0070840]; microtubule binding [GO:0008017]; microtubule minus-end binding [GO:0051011]; microtubule plus-end binding [GO:0051010]; phosphatidylinositol binding [GO:0035091]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; structural molecule activity [GO:0005198]; tubulin binding [GO:0015631]; anastral spindle assembly [GO:0055048]; astral microtubule organization [GO:0030953]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; establishment of mitotic spindle orientation [GO:0000132]; meiotic cell cycle [GO:0051321]; microtubule bundle formation [GO:0001578]; nucleus organization [GO:0006997]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of chromosome segregation [GO:0051984]; positive regulation of chromosome separation [GO:1905820]; positive regulation of hair follicle development [GO:0051798]; positive regulation of intracellular transport [GO:0032388]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of mitotic spindle elongation [GO:1902846]; positive regulation of protein localization to cell cortex [GO:1904778]; positive regulation of protein localization to spindle pole body [GO:1902365]; positive regulation of spindle assembly [GO:1905832]; regulation of metaphase plate congression [GO:0090235]; regulation of mitotic spindle organization [GO:0060236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Numa-1, p230; IsoId=Q14980-1; Sequence=Displayed; Name=2; IsoId=Q14980-2; Sequence=VSP_012910; Note=No experimental confirmation available.; Name=3; Synonyms=Numa-m {ECO:0000303|PubMed:7962183}, p195; IsoId=Q14980-3; Sequence=VSP_044378; Name=4; Synonyms=Numa-s {ECO:0000303|PubMed:7962183}, p194; IsoId=Q14980-4; Sequence=VSP_044379; Name=5; IsoId=Q14980-5; Sequence=VSP_054146; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1541630, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:27462074}. Nucleus, nucleoplasm {ECO:0000269|PubMed:10811826}. Nucleus matrix {ECO:0000269|PubMed:10075938, ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:1541636, ECO:0000269|PubMed:7962183}. Chromosome {ECO:0000269|PubMed:1541630}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386, ECO:0000269|PubMed:26765568}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:10811826, ECO:0000269|PubMed:1541630, ECO:0000269|PubMed:1541636, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26562023, ECO:0000269|PubMed:26765568}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:10811826, ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386, ECO:0000269|PubMed:1541630, ECO:0000269|PubMed:1541636, ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598, ECO:0000269|PubMed:24996901, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26195665, ECO:0000269|PubMed:26562023, ECO:0000269|PubMed:27462074, ECO:0000269|PubMed:7769006, ECO:0000269|PubMed:7962183}. Cytoplasm, cell cortex {ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598, ECO:0000269|PubMed:24996901}. Cell membrane {ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901}; Lipid-anchor {ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901}; Cytoplasmic side {ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901}. Lateral cell membrane {ECO:0000250|UniProtKB:E9Q7G0}. Note=Mitotic cell cycle-dependent shuttling protein that relocalizes from the interphase nucleus to the spindle poles and cell cortex (PubMed:1541636, PubMed:10811826). In interphase, resides in the nuclear matrix (PubMed:1541630, PubMed:1541636, PubMed:23921553). In prophase, restricted to the interchromatin or condensed chromosome space (PubMed:10811826). In prometaphase, after nuclear envelope disassembly, forms aggregates both in the spindle midzone and at duplicated centrosomes and astral microtubules (MTs) of the bipolar spindle apparatus (PubMed:10811826). Translocates from the spindle midzone towards the spindle poles along spindle fibers in a MT- and dynein-dynactin-dependent manner until the anaphase onset (PubMed:1541636, PubMed:10811826). In metaphase, recruited to the polar cortical region in a GPSM2- and GNAI1-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901). Excluded from the metaphase equatorial cortical region in a RanGTP-dependent manner (PubMed:22327364, PubMed:23870127). Phosphorylation on Thr-2055 by CDK1 results in its localization at spindle poles in metaphase, but not at the cell cortex (PubMed:23921553). In anaphase, recruited and anchored at the cell membrane of the polar cortical region in a EPB41-, EPB41L2-, phosphatidylinositol-dependent and GPSM2- and G(i) alpha proteins-independent manner (PubMed:23870127, PubMed:24996901, PubMed:24109598, PubMed:24371089). Excluded from the anaphase equatorial region of the cell cortex in a RACGAP1- and KIF23-dependent and RanGTP-independent manner (PubMed:24996901). Associated with astral MTs emanating from the spindle poles during anaphase (PubMed:12445386, PubMed:24996901). Nonphosphorylated Thr-2055 localizes at the cell cortex, weakly during metaphase and more prominently during anaphase in a phosphatase PPP2CA-dependent manner (PubMed:23921553). As mitosis progresses it reassociates with telophase chromosomes very early during nuclear reformation, before substantial accumulation of lamins on chromosomal surfaces is evident (PubMed:1541636). Localizes to the tips of cortical MTs in prometaphase (PubMed:26765568). Localizes along MTs and specifically to both MT plus and minus ends (PubMed:26765568). Accumulates also at MT tips near the cell periphery (PubMed:26765568). Colocalizes with GPSM2 at mitotic spindle poles during mitosis (PubMed:11781568, PubMed:21816348). Colocalizes with SPAG5 at mitotic spindle at prometaphase and at mitotic spindle poles at metaphase and anaphase (PubMed:27462074). Colocalizes with ABRO1 at mitotic spindle poles (PubMed:26195665). Colocalized with TNKS from prophase through to anaphase in mitosis (PubMed:16076287). Colocalizes with tubulin alpha (PubMed:12445386). CCSAP is essential for its centrosomal localization (PubMed:26562023). In horizontally retinal progenitor dividing cells, localized to the lateral cortical region (By similarity). {ECO:0000250|UniProtKB:E9Q7G0, ECO:0000269|PubMed:10811826, ECO:0000269|PubMed:11781568, ECO:0000269|PubMed:12445386, ECO:0000269|PubMed:1541630, ECO:0000269|PubMed:1541636, ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:21816348, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598, ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901, ECO:0000269|PubMed:26195665, ECO:0000269|PubMed:26562023, ECO:0000269|PubMed:26765568, ECO:0000269|PubMed:27462074}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytosol {ECO:0000269|PubMed:7962183}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:7962183}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:7962183}. Note=During interphase, mainly clustered at the centrosomal region in the cytosol. After entry into mitosis, detected at mitotic spindle poles. {ECO:0000269|PubMed:7962183}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm, cytosol {ECO:0000269|PubMed:7962183}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:7962183}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:7962183}. Note=During interphase, mainly clustered at the centrosomal region in the cytosol. After entry into mitosis, detected at mitotic spindle poles. {ECO:0000269|PubMed:7962183}.


uniprotID: P41217
geneSymbol: CD200
reactome: R-HSA-198933;
name: OX-2 membrane glycoprotein (CD antigen CD200)
length: 278
go: ENSG00000091972;
snps: rs1131199 rs2272022 rs35465733
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
axon [GO:0030424]; cell body [GO:0044297]; cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; glycosylated region protein binding [GO:0140081]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; cell-cell adhesion [GO:0098609]; heterotypic cell-cell adhesion [GO:0034113]; negative regulation of cell proliferation [GO:0008285]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of leukocyte activation [GO:0002695]; negative regulation of macrophage activation [GO:0043031]; negative regulation of macrophage migration [GO:1905522]; negative regulation of matrix metallopeptidase secretion [GO:1904465]; negative regulation of neuroinflammatory response [GO:0150079]; negative regulation of neuron death [GO:1901215]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of T cell migration [GO:2000405]; positive regulation of arginase activity [GO:0150072]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of protein-glutamine gamma-glutamyltransferase activity [GO:0150074]; positive regulation of transforming growth factor beta production [GO:0071636]; regulation of immune response [GO:0050776]; regulation of neuroinflammatory response [GO:0150077]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P41217-1; Sequence=Displayed; Name=2; IsoId=P41217-2; Sequence=VSP_002613; Name=3; IsoId=P41217-3; Sequence=VSP_040027, VSP_002613; 


uniprotID: Q96G74
geneSymbol: OTUD5
reactome: R-HSA-5689896;R-HSA-936440;
pdb: 3PFY;3TMO;3TMP;
name: OTU domain-containing protein 5 (EC 3.4.19.12) (Deubiquitinating enzyme A) (DUBA)
length: 571
go: ENSG00000068308;
sequence:

opentargets:
cytosol [GO:0005829]; Lys48-specific deubiquitinase activity [GO:1990380]; Lys63-specific deubiquitinase activity [GO:0061578]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; ubiquitinyl hydrolase activity [GO:0101005]; negative regulation of type I interferon production [GO:0032480]; protein deubiquitination [GO:0016579]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]; response to lipopolysaccharide [GO:0032496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96G74-1; Sequence=Displayed; Name=2; IsoId=Q96G74-2; Sequence=VSP_023195, VSP_023192; Note=No experimental confirmation available. Dubious isoform produced through aberrant splice sites.; Name=3; IsoId=Q96G74-3; Sequence=VSP_023192, VSP_023193, VSP_023194; Note=No experimental confirmation available. Dubious isoform produced through aberrant splice sites.; Name=4; IsoId=Q96G74-4; Sequence=VSP_045185, VSP_023192; Note=No experimental confirmation available.; Name=5; IsoId=Q96G74-5; Sequence=VSP_023192; 


uniprotID: O43613
geneSymbol: HCRTR1
reactome: R-HSA-389397;R-HSA-416476;
pdb: 4ZJ8;4ZJC;
name: Orexin receptor type 1 (Ox-1-R) (Ox1-R) (Ox1R) (Hypocretin receptor type 1)
length: 425
go: ENSG00000121764;
drug: DB09034;
snps: rs144603792 rs7516785 rs41439244 rs2271933
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; orexin receptor activity [GO:0016499]; peptide hormone binding [GO:0017046]; chemical synaptic transmission [GO:0007268]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; regulation of cytosolic calcium ion concentration [GO:0051480]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26950369, ECO:0000269|PubMed:9491897}; Multi-pass membrane protein {ECO:0000269|PubMed:26950369}.


uniprotID: Q96HP4
geneSymbol: OXNAD1
name: Oxidoreductase NAD-binding domain-containing protein 1 (EC 1.-.-.-)
length: 312
go: ENSG00000154814;
opentargets: oxidoreductase activity [GO:0016491]
snps: rs17042066 rs842274 rs6777976
sequence:


uniprotID: Q6ZRI0
geneSymbol: OTOG
name: Otogelin
length: 2925
go: ENSG00000188162;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular space [GO:0005615]; alpha-L-arabinofuranosidase activity [GO:0046556]; structural molecule activity [GO:0005198]; adult locomotory behavior [GO:0008344]; L-arabinose metabolic process [GO:0046373]; sensory perception of sound [GO:0007605]

snps:
rs7130190 rs61611064 rs7112749 rs7106548 rs2355466 rs11024333 rs7936324 rs7936354 rs4491195 rs2041028 rs1003490 rs7111528 rs11024341 rs397514607 rs12422210 rs11024357 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZRI0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6ZRI0-2; Sequence=VSP_029709, VSP_029710, VSP_029711, VSP_029712, VSP_029713, VSP_029714; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:O55225}; Peripheral membrane protein {ECO:0000250|UniProtKB:O55225}; Extracellular side {ECO:0000250|UniProtKB:O55225}. Secreted, extracellular space {ECO:0000250|UniProtKB:O55225}. Note=Found in fiber-like structures during the maturation process of the tectorial membrane. {ECO:0000250|UniProtKB:O55225}.


uniprotID: Q9UNK4
geneSymbol: PLA2G2D
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483166;
length: 145
go: ENSG00000117215;
drug: DB03017;DB03193;
snps: rs62541890 rs62541891 rs584367 rs62541892 rs62541900 rs62541901
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Group IID secretory phospholipase A2 (GIID sPLA2) (sPLA2-IID) (EC 3.1.1.4) (PLA2IID) (Phosphatidylcholine 2-acylhydrolase 2D) (Secretory-type PLA, stroma-associated homolog)

sequence:
MELALLCGLVVMAGVIPIQGGILNLNKMVKQVTGKMPILSYWPYGCHCGLGGRGQPKDATDWCCQTHDCCYDHLKTQGCSIYKDYYRYNFSQGNIHCSDKGSWCEQQLCACDKEVAFCLKRNLDTYQKRLRFYWRPHCRGQTPGC

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; phospholipid binding [GO:0005543]; arachidonic acid secretion [GO:0050482]; CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation [GO:0002361]; inflammatory response [GO:0006954]; lipid catabolic process [GO:0016042]; negative regulation of T cell proliferation [GO:0042130]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]


uniprotID: O14832
geneSymbol: PHYH
reactome: R-HSA-389599;R-HSA-9033241;R-HSA-9033500;
pdb: 2A1X;
length: 338
go: ENSG00000107537;
drug: DB00025;DB00126;
location: SUBCELLULAR LOCATION: Peroxisome.
name:
Phytanoyl-CoA dioxygenase, peroxisomal (EC 1.14.11.18) (Phytanic acid oxidase) (Phytanoyl-CoA alpha-hydroxylase) (PhyH)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; carboxylic acid binding [GO:0031406]; cofactor binding [GO:0048037]; ferrous iron binding [GO:0008198]; L-ascorbic acid binding [GO:0031418]; phytanoyl-CoA dioxygenase activity [GO:0048244]; 2-oxoglutarate metabolic process [GO:0006103]; fatty acid alpha-oxidation [GO:0001561]; isoprenoid metabolic process [GO:0006720]; methyl-branched fatty acid metabolic process [GO:0097089]; protein targeting to peroxisome [GO:0006625]

snps:
rs28938169 rs28939672 rs770262329 rs104894173 rs7901902 rs767216891 rs62619919 rs1211564430 rs104894179 rs104894174 rs104894178 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14832-1; Sequence=Displayed; Name=2; IsoId=O14832-2; Sequence=VSP_046289; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9P286
geneSymbol: PAK5
reactome: R-HSA-428540;
pdb: 2F57;
length: 719
go: ENSG00000101349;
snps: rs55923311 rs34280805 rs952665081 rs11700112 rs2297345 rs34102290 rs1484691555
name:
Serine/threonine-protein kinase PAK 5 (EC 2.7.11.1) (p21-activated kinase 5) (PAK-5) (p21-activated kinase 7) (PAK-7)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; synapse [GO:0045202]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cytoskeleton organization [GO:0007010]; learning [GO:0007612]; locomotory behavior [GO:0007626]; memory [GO:0007613]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; regulation of cell growth [GO:0001558]; regulation of MAPK cascade [GO:0043408]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

location:
SUBCELLULAR LOCATION: Mitochondrion. Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the mitochondria, and mitochondrial localization is essential for the role in cell survival.


uniprotID: O75781
geneSymbol: PALM
name: Paralemmin-1 (Paralemmin)
length: 387
go: ENSG00000099864;
snps: rs1050457
sequence:

opentargets:
apicolateral plasma membrane [GO:0016327]; axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; cytoplasmic vesicle [GO:0031410]; dendritic spine membrane [GO:0032591]; filopodium membrane [GO:0031527]; intracellular membrane-bounded organelle [GO:0043231]; intrinsic component of the cytoplasmic side of the plasma membrane [GO:0031235]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; D3 dopamine receptor binding [GO:0031750]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cellular response to electrical stimulus [GO:0071257]; cytoskeleton organization [GO:0007010]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of dopamine receptor signaling pathway [GO:0060160]; positive regulation of filopodium assembly [GO:0051491]; protein localization to plasma membrane [GO:0072659]; regulation of cell shape [GO:0008360]; synapse maturation [GO:0060074]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Paralemmin-L; IsoId=O75781-1; Sequence=Displayed; Name=2; Synonyms=Paralemmin-S; IsoId=O75781-2; Sequence=VSP_003918; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14978216}; Lipid-anchor {ECO:0000269|PubMed:14978216}; Cytoplasmic side {ECO:0000269|PubMed:14978216}. Cell projection, filopodium membrane {ECO:0000269|PubMed:14978216}; Lipid-anchor {ECO:0000269|PubMed:14978216}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Basolateral cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Apicolateral cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Note=Translocation to the plasma membrane is enhanced upon stimulation of neuronal activity.


uniprotID: O75914
geneSymbol: PAK3
pdb: 6FD3;
length: 559
go: ENSG00000077264;
snps: rs121434612 rs121434613
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
reactome:
R-HSA-202433;R-HSA-389359;R-HSA-3928664;R-HSA-399954;R-HSA-428540;R-HSA-5218920;R-HSA-5621575;R-HSA-5627123;R-HSA-5687128;

name:
Serine/threonine-protein kinase PAK 3 (EC 2.7.11.1) (Beta-PAK) (Oligophrenin-3) (p21-activated kinase 3) (PAK-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; glutamatergic synapse [GO:0098978]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; MAP kinase kinase activity [GO:0004708]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; SH3 domain binding [GO:0017124]; activation of protein kinase activity [GO:0032147]; axonogenesis [GO:0007409]; cellular response to organic cyclic compound [GO:0071407]; dendrite development [GO:0016358]; dendritic spine morphogenesis [GO:0060997]; ephrin receptor signaling pathway [GO:0048013]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of neuron apoptotic process [GO:0043525]; regulation of actin filament polymerization [GO:0030833]; regulation of axonogenesis [GO:0050770]; regulation of MAPK cascade [GO:0043408]; signal transduction by protein phosphorylation [GO:0023014]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated protein kinase signaling cascade [GO:0031098]; synapse organization [GO:0050808]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=PAK3b; IsoId=O75914-1; Sequence=Displayed; Name=2; IsoId=O75914-2; Sequence=VSP_010242; Name=3; Synonyms=PAK3cb; IsoId=O75914-3; Sequence=VSP_041839; Name=4; Synonyms=PAK3c; IsoId=O75914-4; Sequence=VSP_041840; 


uniprotID: Q9BZ23
geneSymbol: PANK2
reactome: R-HSA-196783;
pdb: 5E26;
name: Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2)
length: 570
go: ENSG00000125779;
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ATP binding [GO:0005524]; pantothenate kinase activity [GO:0004594]; aerobic respiration [GO:0009060]; coenzyme A biosynthetic process [GO:0015937]; coenzyme biosynthetic process [GO:0009108]; mitochondrion morphogenesis [GO:0070584]; pantothenate metabolic process [GO:0015939]; phosphorylation [GO:0016310]; regulation of bile acid metabolic process [GO:1904251]; regulation of fatty acid metabolic process [GO:0019217]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of triglyceride metabolic process [GO:0090207]; spermatid development [GO:0007286]

snps:
rs71647827 rs71647828 rs3737084 rs765679726 rs137852965 rs137852961 rs137852966 rs137852962 rs974575417 rs768230831 rs137852964 rs746484727 rs754521581 rs759223327 rs752078407 rs750176786 rs1012947103 rs137852963 rs759332123 rs775459398 rs767653843 rs137852959 rs137852967 rs41279408 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; IsoId=Q9BZ23-1; Sequence=Displayed; Name=3; IsoId=Q9BZ23-2; Sequence=VSP_007424; Name=2; IsoId=Q9BZ23-3; Sequence=VSP_018825; Note=Produced by alternative initiation at Met-124 of isoform 1.; Name=4; IsoId=Q9BZ23-4; Sequence=VSP_038494, VSP_038495; Note=May be produced by alternative initiation at Leu-111 of isoform 1. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000305}.


uniprotID: Q4VXU2
geneSymbol: PABPC1L
name: Polyadenylate-binding protein 1-like
length: 614
go: ENSG00000101104;
snps: rs2075960 rs6513956
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; chromatin-mediated maintenance of transcription [GO:0048096]; mRNA polyadenylation [GO:0006378]; nucleus localization [GO:0051647]; oocyte maturation [GO:0001556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4VXU2-1; Sequence=Displayed; Name=2; IsoId=Q4VXU2-2; Sequence=VSP_057071, VSP_057072; Note=No experimental confirmation available.; 


uniprotID: Q7Z3H0
geneSymbol: ANKRD33
name: Photoreceptor ankyrin repeat protein (Ankyrin repeat domain-containing protein 33)
length: 452
go: ENSG00000167612;
snps: rs697636 rs34494292 rs12368048 rs3180417
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q7Z3H0-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=Q7Z3H0-1; Sequence=VSP_059265, VSP_059266, VSP_059267; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8BXP5}. Nucleus {ECO:0000250|UniProtKB:Q8BXP5}.


uniprotID: Q9NVV4
geneSymbol: MTPAP
pdb: 3PQ1;
length: 582
go: ENSG00000107951;
snps: rs1047991 rs17855118 rs17857517 rs267606900 rs17855116
name:
Poly(A) RNA polymerase, mitochondrial (PAP) (EC 2.7.7.19) (PAP-associated domain-containing protein 1) (Polynucleotide adenylyltransferase) (Terminal uridylyltransferase 1) (TUTase 1) (mtPAP)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; polynucleotide adenylyltransferase activity [GO:0004652]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; UTP binding [GO:0002134]; histone mRNA catabolic process [GO:0071044]; mRNA polyadenylation [GO:0006378]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVV4-1; Sequence=Displayed; Name=2; IsoId=Q9NVV4-2; Sequence=VSP_020724; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18172165}. Mitochondrion {ECO:0000269|PubMed:15547249, ECO:0000269|PubMed:15769737}.


uniprotID: Q14494
geneSymbol: NFE2L1
length: 772
go: ENSG00000082641;
drug: DB04147;
snps: rs2229367
name:
Endoplasmic reticulum membrane sensor NFE2L1 (Locus control region-factor 1) (LCR-F1) (Nuclear factor erythroid 2-related factor 1) (NF-E2-related factor 1) (NFE2-related factor 1) (Nuclear factor, erythroid derived 2, like 1) (Protein NRF1, p120 form) (Transcription factor 11) (TCF-11) [Cleaved into: Transcription factor NRF1 (Protein NRF1, p110 form)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; cholesterol binding [GO:0015485]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; lipid binding [GO:0008289]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coregulator activity [GO:0003712]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure morphogenesis [GO:0009653]; cell redox homeostasis [GO:0045454]; cellular response to cholesterol [GO:0071397]; cellular response to oxidative stress [GO:0034599]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; erythrocyte differentiation [GO:0030218]; heme biosynthetic process [GO:0006783]; inflammatory response [GO:0006954]; lipid homeostasis [GO:0055088]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter in response to stress [GO:0097201]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of odontoblast differentiation [GO:1901329]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TCF11 {ECO:0000303|PubMed:8001966}; IsoId=Q14494-1; Sequence=Displayed; Name=2; IsoId=Q14494-2; Sequence=VSP_000579; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane sensor NFE2L1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16687406, ECO:0000269|PubMed:24448410, ECO:0000269|PubMed:24998528}; Single-pass type II membrane protein {ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24448410}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:16687406, ECO:0000269|PubMed:24448410, ECO:0000269|PubMed:24998528}; Single-pass type III membrane protein {ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24448410}. Note=In normal conditions, probably has a single-pass type II membrane protein topology, with the DNA-binding domain facing the endoplasmic reticulum lumen (PubMed:24448410). Following cellular stress, it is rapidly and efficiently retrotranslocated to the cytosolic side of the membrane, a process dependent on p97/VCP, to have a single-pass type III membrane protein topology with the major part of the protein facing the cytosol (PubMed:24448410). Retrotranslocated proteins are normally rapidly degraded by the proteasome and active species do not accumulate (PubMed:24448410). However, retrotranslocated protein NFE2L1 escapes degradation and is cleaved at Leu-104 by DDI2, releasing the protein from the endoplasmic reticulum membrane and forming the transcription factor NRF1 that translocates into the nucleus (PubMed:24448410). {ECO:0000269|PubMed:24448410}.; SUBCELLULAR LOCATION: Transcription factor NRF1: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:16687406, ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24998528, ECO:0000269|PubMed:27528193}. Note=Translocates into the nucleus following cleavage of Endoplasmic reticulum membrane sensor NFE2L1 by aspartyl protease DDI2. {ECO:0000269|PubMed:24448410, ECO:0000269|PubMed:27528193}.


uniprotID: Q15599
geneSymbol: SLC9A3R2
pdb: 2D11;2HE4;2OCS;4P0C;
length: 337
go: ENSG00000065054;
name:
Na(+)/H(+) exchange regulatory cofactor NHE-RF2 (NHERF-2) (NHE3 kinase A regulatory protein E3KARP) (SRY-interacting protein 1) (SIP-1) (Sodium-hydrogen exchanger regulatory factor 2) (Solute carrier family 9 isoform A3 regulatory factor 2) (Tyrosine kinase activator protein 1) (TKA-1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; endomembrane system [GO:0012505]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; phosphatase binding [GO:0019902]; protein C-terminus binding [GO:0008022]; protein-containing complex scaffold activity [GO:0032947]; signaling receptor binding [GO:0005102]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15599-1; Sequence=Displayed; Name=2; IsoId=Q15599-2; Sequence=VSP_009378; Name=3; IsoId=Q15599-3; Sequence=VSP_046849, VSP_046850; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:9054412}; Peripheral membrane protein {ECO:0000269|PubMed:9054412}. Nucleus {ECO:0000269|PubMed:9054412}. Apical cell membrane {ECO:0000250}. Note=Localizes with EZR and PODXL at the apical cell membrane of glomerular epithelium cells and the sides of the food processes (By similarity). Nuclear, in a punctate pattern. {ECO:0000250}.


uniprotID: Q7RTP0
geneSymbol: NIPA1
reactome: R-HSA-5223345;
length: 329
go: ENSG00000170113;
snps: rs104894496 rs104894490
name:
Magnesium transporter NIPA1 (Non-imprinted in Prader-Willi/Angelman syndrome region protein 1) (Spastic paraplegia 6 protein)

sequence:

opentargets:
early endosome [GO:0005769]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; magnesium ion transmembrane transporter activity [GO:0015095]; magnesium ion transport [GO:0015693]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7RTP0-1; Sequence=Displayed; Name=2; IsoId=Q7RTP0-2; Sequence=VSP_017189; 

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


uniprotID: Q6J4K2
geneSymbol: SLC8B1
reactome: R-HSA-425561;R-HSA-8949215;
length: 584
go: ENSG00000089060;
snps: rs16942745 rs3764034
name:
Mitochondrial sodium/calcium exchanger protein (Na(+)/K(+)/Ca(2+)-exchange protein 6) (Sodium/calcium exchanger protein, mitochondrial) (Sodium/potassium/calcium exchanger 6) (Solute carrier family 24 member 6) (Solute carrier family 8 member B1)

sequence:

opentargets:
integral component of mitochondrial membrane [GO:0032592]; mitochondrial crista [GO:0030061]; mitochondrial inner membrane [GO:0005743]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; calcium:cation antiporter activity [GO:0015368]; calcium:sodium antiporter activity [GO:0005432]; calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential [GO:0086038]; protein homodimerization activity [GO:0042803]; calcium export from the mitochondrion [GO:0099093]; glucose homeostasis [GO:0042593]; ion transport [GO:0006811]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; regulation of cardiac muscle cell membrane potential [GO:0086036]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of insulin secretion [GO:0050796]; regulation of lymphocyte chemotaxis [GO:1901623]; regulation of store-operated calcium entry [GO:2001256]; response to stimulus [GO:0050896]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6J4K2-1; Sequence=Displayed; Name=2; Synonyms=S-NCLX {ECO:0000303|PubMed:15060069}; IsoId=Q6J4K2-2; Sequence=VSP_016996; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:20018762, ECO:0000269|PubMed:23056385}; Multi-pass membrane protein {ECO:0000269|PubMed:20018762, ECO:0000269|PubMed:23056385}.


uniprotID: Q8IY84
geneSymbol: NIM1K
name: Serine/threonine-protein kinase NIM1 (EC 2.7.11.1) (NIM1 serine/threonine-protein kinase)
length: 436
go: ENSG00000177453;
snps: rs55664335 rs55663207 rs35659008 rs55770078 rs866026698
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; cellular response to glucose starvation [GO:0042149]; intracellular signal transduction [GO:0035556]; negative regulation of TOR signaling [GO:0032007]; protein phosphorylation [GO:0006468]


uniprotID: Q86UT5
geneSymbol: PDZD3
reactome: R-HSA-8942233;
pdb: 2V90;
length: 571
go: ENSG00000172367;
name:
Na(+)/H(+) exchange regulatory cofactor NHE-RF4 (NHERF-4) (Intestinal and kidney-enriched PDZ protein) (Natrium-phosphate cotransporter IIa C-terminal-associated protein 2) (Na/Pi cotransporter C-terminal-associated protein 2) (NaPi-Cap2) (PDZ domain-containing protein 2) (PDZ domain-containing protein 3) (Sodium-hydrogen exchanger regulatory factor 4)

sequence:

opentargets:
apical part of cell [GO:0045177]; brush border [GO:0005903]; cytosol [GO:0005829]; subapical complex [GO:0035003]; guanylate cyclase inhibitor activity [GO:0030251]; ion channel inhibitor activity [GO:0008200]; protein C-terminus binding [GO:0008022]; ubiquitin-specific protease binding [GO:1990381]; ion transport [GO:0006811]; negative regulation of cGMP-mediated signaling [GO:0010754]; receptor guanylyl cyclase signaling pathway [GO:0007168]; response to toxic substance [GO:0009636]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|Ref.2}; IsoId=Q86UT5-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11950846}; IsoId=Q86UT5-2; Sequence=VSP_051786, VSP_051787; Name=3 {ECO:0000305}; IsoId=Q86UT5-3; Sequence=VSP_051786, VSP_051787, VSP_051788; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000305}; IsoId=Q86UT5-4; Sequence=VSP_051790, VSP_051791; Note=No experimental confirmation available. {ECO:0000305}; Name=5 {ECO:0000305}; IsoId=Q86UT5-5; Sequence=VSP_051786, VSP_051787, VSP_051789; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11950846, ECO:0000269|PubMed:19088451}; Peripheral membrane protein {ECO:0000269|PubMed:11950846, ECO:0000269|PubMed:19088451}. Cytoplasm {ECO:0000269|PubMed:19088451}. Note=Preferentially accumulates at the apical surface and ileal brush border of intestinal epithelial cells (PubMed:11950846, PubMed:19088451). {ECO:0000269|PubMed:11950846, ECO:0000269|PubMed:19088451}.


uniprotID: Q8N8D7
geneSymbol: NKAIN3
length: 197
go: ENSG00000185942;
snps: rs4739003
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 (Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3) (Protein FAM77D)

sequence:
MGCCTGRCSLICLCALQLVSALERQIFDFLGFQWAPILGNFLHIIVVILGLFGTIQYRPRYIMVYTVWTALWVTWNVFIICFYLEVGGLSKDTDLMTFNISVHRSWWREHGPGCVRRVLPPSAHGMMDDYTYVSVTGCIVDFQYLEVIHSAVQILLSLVGFVYACYVISISMEEEDTYSCDLQVCKHLFIQMLQIIE

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


uniprotID: Q9C000
geneSymbol: NLRP1
reactome: R-HSA-844455;
pdb: 1PN5;3KAT;4IFP;4IM6;5Y3S;
length: 1473
go: ENSG00000091592;
name:
NACHT, LRR and PYD domains-containing protein 1 (Caspase recruitment domain-containing protein 7) (Death effector filament-forming ced-4-like apoptosis protein) (Nucleotide-binding domain and caspase recruitment domain)

sequence:

opentargets:
cytosol [GO:0005829]; inflammasome complex [GO:0061702]; intracellular [GO:0005622]; NLRP1 inflammasome complex [GO:0072558]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; enzyme binding [GO:0019899]; protein domain specific binding [GO:0019904]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; defense response to bacterium [GO:0042742]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; neuron apoptotic process [GO:0051402]; NLRP1 inflammasome complex assembly [GO:1904784]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of interleukin-1 beta secretion [GO:0050718]; regulation of inflammatory response [GO:0050727]; response to muramyl dipeptide [GO:0032495]; viral process [GO:0016032]

snps:
rs1057519492 rs1057519493 rs397514692 rs12150220 rs11651595 rs3744718 rs776245016 rs11657747 rs2301582 rs9907167 rs35596958 rs11651270 rs1057524876 rs11653832 rs2137722 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=NAC beta, DEFCAP-L, NALP1-L {ECO:0000303|PubMed:15285719}; IsoId=Q9C000-1; Sequence=Displayed; Name=2; Synonyms=NAC alpha, DEFCAP-S, NALP1-S {ECO:0000303|PubMed:15285719}, NLRP1deltaEx14; IsoId=Q9C000-2; Sequence=VSP_004327; Name=3; Synonyms=NAC gamma; IsoId=Q9C000-3; Sequence=VSP_004326, VSP_004327; Name=4; Synonyms=NAC delta; IsoId=Q9C000-4; Sequence=VSP_004326; Name=5; IsoId=Q9C000-5; Sequence=VSP_053803, VSP_053804, VSP_053805; Name=6; IsoId=Q9C000-6; Sequence=VSP_053802; Name=7; IsoId=Q9C000-7; Sequence=VSP_053801, VSP_053803, VSP_053804, VSP_053805; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17418785}. Cytoplasm {ECO:0000269|PubMed:17164409}. Inflammasome {ECO:0000269|PubMed:12191486, ECO:0000269|PubMed:22665479}. Nucleus {ECO:0000269|PubMed:17164409}. Note=Nucleocytoplasmic distribution in lymphoid organs (probably in T-cells) and in neurons. In epithelial cells, predominantly cytoplasmic. {ECO:0000269|PubMed:17164409}.


uniprotID: Q9UNW9
geneSymbol: NOVA2
pdb: 1DTJ;1EC6;
length: 492
go: ENSG00000104967;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
RNA-binding protein Nova-2 (Astrocytic NOVA1-like RNA-binding protein) (Neuro-oncological ventral antigen 2)

sequence:

opentargets:
nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of cold-induced thermogenesis [GO:0120163]; regulation of RNA metabolic process [GO:0051252]


uniprotID: P61916
geneSymbol: NPC2
reactome: R-HSA-6798695;R-HSA-8964038;
pdb: 5KWY;
length: 151
go: ENSG00000119655;
snps: rs151220873 rs80358261 rs11694 rs4688 rs143960270 rs80358264 rs104894458
name:
NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1) (Human epididymis-specific protein 1) (He1) (Niemann-Pick disease type C2 protein)

sequence:
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL

opentargets:
azurophil granule lumen [GO:0035578]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; enzyme binding [GO:0019899]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; glycolipid transport [GO:0046836]; intracellular cholesterol transport [GO:0032367]; intracellular sterol transport [GO:0032366]; low-density lipoprotein particle clearance [GO:0034383]; neutrophil degranulation [GO:0043312]; phospholipid transport [GO:0015914]; regulation of isoprenoid metabolic process [GO:0019747]; response to virus [GO:0009615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61916-1; Sequence=Displayed; Name=2; IsoId=P61916-2; Sequence=VSP_056459; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11125141, ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:19723497, ECO:0000269|PubMed:21315718}. Endoplasmic reticulum {ECO:0000269|PubMed:19723497}. Lysosome {ECO:0000269|PubMed:15937921, ECO:0000269|PubMed:19723497, ECO:0000305|PubMed:11125141}. Note=Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. {ECO:0000305|PubMed:11125141}.


uniprotID: A6NFF2
geneSymbol: NAP1L6
name: Putative nucleosome assembly protein 1-like 6
length: 107
opentargets: nucleus [GO:0005634]; nucleosome assembly [GO:0006334]
sequence:
MMEGLGEHSTAGEMGPLLGAVAATASPQSLMEYSSDADFIESLPLVVKYRVYTLKKLQAKCAVLEAKYLREFHSVERKFATIYGPLLEKRRQITNALYEPTKEECER


uniprotID: O43157
geneSymbol: PLXNB1
reactome: R-HSA-416482;R-HSA-416550;R-HSA-416572;
pdb: 2JPH;2OS6;2R2O;2REX;3HM6;3OL2;3SU8;3SUA;5B4W;
name: Plexin-B1 (Semaphorin receptor SEP)
length: 2135
go: ENSG00000164050;
snps: rs34050056 rs35592743
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; GTPase activating protein binding [GO:0032794]; GTPase activator activity [GO:0005096]; semaphorin receptor activity [GO:0017154]; semaphorin receptor binding [GO:0030215]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; cell migration [GO:0016477]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; negative regulation of cell adhesion [GO:0007162]; negative regulation of osteoblast proliferation [GO:0033689]; neuron projection morphogenesis [GO:0048812]; ossification involved in bone maturation [GO:0043931]; positive regulation of axonogenesis [GO:0050772]; positive regulation of GTPase activity [GO:0043547]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of cytoskeleton organization [GO:0051493]; regulation of GTPase activity [GO:0043087]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis [GO:1900220]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43157-1; Sequence=Displayed; Name=2; Synonyms=Isoform R; IsoId=O43157-2; Sequence=VSP_011514; Name=3; IsoId=O43157-3; Sequence=VSP_011513, VSP_011515; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: Q8IXF0
geneSymbol: NPAS3
length: 933
go: ENSG00000151322;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:12746393}.
name:
Neuronal PAS domain-containing protein 3 (Neuronal PAS3) (Basic-helix-loop-helix-PAS protein MOP6) (Class E basic helix-loop-helix protein 12) (bHLHe12) (Member of PAS protein 6) (PAS domain-containing protein 6)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=long form; IsoId=Q8IXF0-1; Sequence=Displayed; Name=2; IsoId=Q8IXF0-2; Sequence=VSP_009085; Name=3; Synonyms=NPAS3v; IsoId=Q8IXF0-3; Sequence=VSP_009085, VSP_009087; Name=4; IsoId=Q8IXF0-4; Sequence=VSP_009085, VSP_009086; Name=5; IsoId=Q8IXF0-5; Sequence=VSP_009084, VSP_009086, VSP_009088, VSP_009089; Name=6; IsoId=Q8IXF0-6; Sequence=VSP_009088, VSP_009089; 


uniprotID: Q9Y314
geneSymbol: NOSIP
reactome: R-HSA-203754;
length: 301
go: ENSG00000142546;
snps: rs17850728
name:
Nitric oxide synthase-interacting protein (E3 ubiquitin-protein ligase NOSIP) (EC 2.3.2.27) (RING-type E3 ubiquitin transferase NOSIP) (eNOS-interacting protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; nucleus [GO:0005634]; RNA binding [GO:0003723]; ubiquitin protein ligase activity [GO:0061630]; multicellular organism development [GO:0007275]; negative regulation of catalytic activity [GO:0043086]; negative regulation of nitric-oxide synthase activity [GO:0051001]; regulation of nitric-oxide synthase activity [GO:0050999]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15548660, ECO:0000269|PubMed:16135813}. Nucleus {ECO:0000269|PubMed:15548660, ECO:0000269|PubMed:16135813}. Note=Translocates from nucleus to cytoplasm in the G2 phase of the cell cycle (PubMed:16135813).


uniprotID: Q9ULL4
geneSymbol: PLXNB3
reactome: R-HSA-416700;
name: Plexin-B3
length: 1909
go: ENSG00000198753;
snps: rs34360382 rs782213788 rs2266879 rs6643791 rs5987155 rs34762690
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; cell-cell adhesion mediator activity [GO:0098632]; protein domain specific binding [GO:0019904]; Rho GDP-dissociation inhibitor binding [GO:0051022]; semaphorin receptor activity [GO:0017154]; cell chemotaxis [GO:0060326]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell migration [GO:0030336]; negative regulation of GTPase activity [GO:0034260]; negative regulation of lamellipodium assembly [GO:0010593]; positive chemotaxis [GO:0050918]; positive regulation of axonogenesis [GO:0050772]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of neuron projection development [GO:0010976]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULL4-1; Sequence=Displayed; Name=2; IsoId=Q9ULL4-2; Sequence=VSP_044467; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15218527, ECO:0000269|PubMed:16122393}; Single-pass type I membrane protein {ECO:0000269|PubMed:15218527, ECO:0000269|PubMed:16122393}. Note=Colocalizes with RIT2/RIN at the plasma membrane.


uniprotID: O60486
geneSymbol: PLXNC1
reactome: R-HSA-416700;
pdb: 3KUZ;3NVN;3NVQ;
name: Plexin-C1 (Virus-encoded semaphorin protein receptor) (CD antigen CD232)
length: 1568
go: ENSG00000136040;
snps: rs11107500
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; semaphorin receptor complex [GO:0002116]; semaphorin receptor activity [GO:0017154]; signaling receptor binding [GO:0005102]; cell adhesion [GO:0007155]; negative regulation of cell adhesion [GO:0007162]; positive regulation of axonogenesis [GO:0050772]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]


uniprotID: P48146
geneSymbol: NPBWR2
reactome: R-HSA-375276;R-HSA-418594;
name: Neuropeptides B/W receptor type 2 (G-protein coupled receptor 8)
length: 333
go: ENSG00000125522;
snps: rs768724424 rs4809401
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide binding [GO:0042923]; neuropeptide receptor activity [GO:0008188]; opioid receptor activity [GO:0004985]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q9Y5X5
geneSymbol: NPFFR2
reactome: R-HSA-389397;R-HSA-416476;
length: 522
go: ENSG00000056291;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Neuropeptide FF receptor 2 (G-protein coupled receptor 74) (G-protein coupled receptor HLWAR77) (Neuropeptide G-protein coupled receptor)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide receptor activity [GO:0008188]; opioid receptor binding [GO:0031628]; cellular response to hormone stimulus [GO:0032870]; detection of abiotic stimulus [GO:0009582]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of adenylate cyclase activity [GO:0045761]; regulation of cAMP-dependent protein kinase activity [GO:2000479]; regulation of MAPK cascade [GO:0043408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=long form; IsoId=Q9Y5X5-1; Sequence=Displayed; Name=2; Synonyms=short form; IsoId=Q9Y5X5-2; Sequence=VSP_001907; Name=3; IsoId=Q9Y5X5-3; Sequence=VSP_001908, VSP_001909; Name=4; IsoId=Q9Y5X5-4; Sequence=VSP_001910, VSP_001911; 


uniprotID: A8MTQ0
geneSymbol: NOTO
name: Homeobox protein notochord
length: 251
go: ENSG00000214513;
snps: rs1864492 rs13418681
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; dorsal/ventral pattern formation [GO:0009953]; embryonic pattern specification [GO:0009880]; heart looping [GO:0001947]; motile cilium assembly [GO:0044458]; notochord development [GO:0030903]; regulation of cilium assembly [GO:1902017]


uniprotID: A0A0J9YXQ4
geneSymbol: PNMA6E
name: Paraneoplastic antigen Ma6E
length: 647
go: ENSG00000214897;
sequence:


uniprotID: A0A0J9YX94
geneSymbol: PNMA6F
name: Paraneoplastic antigen Ma6F
length: 578
go: ENSG00000225110;
sequence:


uniprotID: P40967
geneSymbol: PMEL
pdb: 1TVB;1TVH;3CC5;4IS6;5EU3;5EU4;5EU5;5EU6;
length: 661
go: ENSG00000185664;
snps: rs2071024 rs17118154
name:
Melanocyte protein PMEL (ME20-M) (ME20M) (Melanocyte protein Pmel 17) (Melanocytes lineage-specific antigen GP100) (Melanoma-associated ME20 antigen) (P1) (P100) (Premelanosome protein) (Silver locus protein homolog) [Cleaved into: M-alpha (95 kDa melanocyte-specific secreted glycoprotein) (P26) (Secreted melanoma-associated ME20 antigen) (ME20-S) (ME20S); M-beta]

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; melanosome [GO:0042470]; multivesicular body membrane [GO:0032585]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; melanin biosynthetic process [GO:0042438]; melanosome organization [GO:0032438]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Intermediate form, Pmel17-i; IsoId=P40967-1; Sequence=Displayed; Name=2; Synonyms=Long form, Pmel17-l; IsoId=P40967-2; Sequence=VSP_038268; Name=3; IsoId=P40967-3; Sequence=VSP_038266; Name=4; Synonyms=Short form, Pmel17-ls; IsoId=P40967-4; Sequence=VSP_038267; Name=5; Synonyms=Short form, Pmel17-is; IsoId=P40967-5; Sequence=VSP_038267, VSP_038268; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus. Melanosome. Endosome, multivesicular body. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes predominantly to intralumenal vesicles (ILVs) within multivesicular bodies. Associates with ILVs found within the lumen of premelanosomes and melanosomes and particularly in compartments that serve as precursors to the striated stage II premelanosomes.; SUBCELLULAR LOCATION: M-alpha: Secreted.


uniprotID: Q969W9
geneSymbol: PMEPA1
reactome: R-HSA-2173788;
length: 287
go: ENSG00000124225;
snps: rs41314918
name:
Protein TMEPAI (Prostate transmembrane protein androgen induced 1) (Solid tumor-associated 1 protein) (Transmembrane prostate androgen-induced protein)

sequence:

opentargets:
early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; R-SMAD binding [GO:0070412]; WW domain binding [GO:0050699]; androgen receptor signaling pathway [GO:0030521]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of SMAD protein complex assembly [GO:0010991]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=a; IsoId=Q969W9-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q969W9-2; Sequence=VSP_006438; Name=3; Synonyms=c; IsoId=Q969W9-3; Sequence=VSP_044588; 

location:
SUBCELLULAR LOCATION: Early endosome membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.


uniprotID: Q6P1K2
geneSymbol: PMF1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 5LSJ;5LSK;
name: Polyamine-modulated factor 1 (PMF-1)
length: 205
go: ENSG00000160783;ENSG00000260238;
snps: rs1052053 rs1052067
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; MIS12/MIND type complex [GO:0000444]; nuclear MIS12/MIND complex [GO:0000818]; nucleoplasm [GO:0005654]; transcription factor complex [GO:0005667]; leucine zipper domain binding [GO:0043522]; transcription coactivator activity [GO:0003713]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1 {ECO:0000269|PubMed:10419538}; IsoId=Q6P1K2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:16710414}; IsoId=Q6P1K2-2; Sequence=VSP_052137; Note=Gene prediction based on EST data. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q6P1K2-3; Sequence=VSP_052139, VSP_052140; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:10419538}; IsoId=Q6P1K2-4; Sequence=VSP_052136; Name=5 {ECO:0000269|PubMed:16710414}; IsoId=Q6P1K2-5; Sequence=VSP_052138; Note=Gene prediction based on EST data. {ECO:0000305}; Name=6; IsoId=Q6P1K2-6; Sequence=VSP_044638; Note=No experimental confirmation available.; 

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


uniprotID: Q8TBY8
geneSymbol: PMFBP1
name: Polyamine-modulated factor 1-binding protein 1 (PMF-1-binding protein)
length: 1022
go: ENSG00000118557;
opentargets: cytoplasm [GO:0005737]
snps: rs217180 rs35370634 rs35781168 rs34832584 rs34832584 rs16973716 rs17852563
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TBY8-1; Sequence=Displayed; Name=2; IsoId=Q8TBY8-2; Sequence=VSP_028043, VSP_028045; Note=No experimental confirmation available.; Name=3; IsoId=Q8TBY8-3; Sequence=VSP_028043, VSP_028044, VSP_028045; Note=No experimental confirmation available.; Name=4; IsoId=Q8TBY8-4; Sequence=VSP_045353, VSP_028043, VSP_045354, VSP_028045; Note=No experimental confirmation available.; 


uniprotID: P07738
geneSymbol: BPGM
reactome: R-HSA-70171;
pdb: 1T8P;2A9J;2F90;2H4X;2H4Z;2H52;2HHJ;3NFY;
length: 259
go: ENSG00000172331;
snps: rs751972865 rs121964925
name:
Bisphosphoglycerate mutase (BPGM) (EC 5.4.2.4) (2,3-bisphosphoglycerate mutase, erythrocyte) (2,3-bisphosphoglycerate synthase) (EC 5.4.2.11) (2,3-diphosphoglycerate mutase) (DPGM) (BPG-dependent PGAM)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; bisphosphoglycerate mutase activity [GO:0004082]; hydrolase activity [GO:0016787]; phosphoglycerate mutase activity [GO:0004619]; canonical glycolysis [GO:0061621]; carbohydrate metabolic process [GO:0005975]; erythrocyte development [GO:0048821]; respiratory gaseous exchange [GO:0007585]


uniprotID: Q8WZA1
geneSymbol: POMGNT1
reactome: R-HSA-5083628;R-HSA-5173105;
pdb: 5GGF;5GGG;5GGI;5GGJ;5GGK;5GGL;5GGN;5GGO;5GGP;5XFC;
length: 660
go: ENSG00000085998;
name:
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) (EC 2.4.1.-) (UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2) (GnT I.2)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; integral component of membrane [GO:0016021]; acetylglucosaminyltransferase activity [GO:0008375]; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity [GO:0047223]; manganese ion binding [GO:0030145]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]

snps:
rs886037949 rs886037947 rs386834030 rs386834032 rs386834036 rs17855359 rs386834010 rs386834037 rs200863680 rs193919336 rs762972459 rs386834011 rs28940869 rs267606960 rs28942068 rs886037948 rs17102066 rs193919335 rs74374973 rs267606962 rs6659553 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WZA1-1; Sequence=Displayed; Name=2; IsoId=Q8WZA1-2; Sequence=VSP_054029; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:17034757, ECO:0000303|PubMed:11709191}; Single-pass type II membrane protein {ECO:0000305|PubMed:11709191}.


uniprotID: Q8NAT1
geneSymbol: POMGNT2
reactome: R-HSA-5173105;
length: 580
go: ENSG00000144647;
snps: rs387907300
name:
Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 (POMGnT2) (EC 2.4.1.312) (Extracellular O-linked N-acetylglucosamine transferase-like) (Glycosyltransferase-like domain-containing protein 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; acetylglucosaminyltransferase activity [GO:0008375]; protein O-GlcNAc transferase activity [GO:0097363]; neuron migration [GO:0001764]; protein O-linked glycosylation [GO:0006493]; protein O-linked mannosylation [GO:0035269]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:23929950}; Single-pass type II membrane protein {ECO:0000269|PubMed:23929950}.


uniprotID: Q9UH64
geneSymbol: CDKN2A-AS1
sequence: MRQRGQEHLPTSVKSEPRACNNPTVAENRRVPSGLAAVIRNLTALWNPSLGVSERRGGDWEPSRIPRLWARVGWIQLPG
length: 79
name:
Susceptibility protein NSG-x (CDKN2A antisense RNA 1) (CDKN2A antisense gene protein 1) (Protein CDKN2A-AS1)


uniprotID: Q8TE49
geneSymbol: OTUD7A
reactome: R-HSA-5689896;
pdb: 2L2D;
name: OTU domain-containing protein 7A (EC 3.4.19.12) (Zinc finger protein Cezanne 2)
length: 926
go: ENSG00000169918;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; DNA binding [GO:0003677]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; protein deubiquitination [GO:0016579]; protein deubiquitination involved in ubiquitin-dependent protein catabolic process [GO:0071947]; protein K11-linked deubiquitination [GO:0035871]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TE49-1; Sequence=Displayed; Name=2; IsoId=Q8TE49-2; Sequence=VSP_011430; Note=No experimental confirmation available.; 


uniprotID: Q5BKU9
geneSymbol: OXLD1
name: Oxidoreductase-like domain-containing protein 1
length: 147
go: ENSG00000204237;
sequence:
MLLRRVVEGGRAVAAAVRGSGARRFSSPDCCQRLPGGGSFLQRHHPGAQAPDGRRKFGTDHVEVGSQAGADGTRPPKASLPPELQPPTNCCMSGCPNCVWVEYADRLLQHFQDGGERALAALEEHVADENLKAFLRMEIRLHTRCGG


uniprotID: P41231
geneSymbol: P2RY2
reactome: R-HSA-416476;R-HSA-417957;R-HSA-5683826;
pdb: 1Z8E;
length: 377
go: ENSG00000175591;
drug: DB04983;DB05390;DB04786;
snps: rs2511241 rs3741156 rs1626154
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
P2Y purinoceptor 2 (P2Y2) (ATP receptor) (P2U purinoceptor 1) (P2U1) (P2U receptor 1) (Purinergic receptor)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; signaling receptor activity [GO:0038023]; cellular ion homeostasis [GO:0006873]; cellular response to ATP [GO:0071318]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of mucus secretion [GO:0070257]; regulation of blood vessel diameter [GO:0097746]


uniprotID: Q9BPV8
geneSymbol: P2RY13
reactome: R-HSA-417957;R-HSA-418594;
pdb: 2B6U;
name: P2Y purinoceptor 13 (P2Y13) (G-protein coupled receptor 86) (G-protein coupled receptor 94)
length: 354
go: ENSG00000181631;
snps: rs1466684
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; cellular response to organic cyclic compound [GO:0071407]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of adenylate cyclase activity [GO:0007194]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BPV8-1; Sequence=Displayed; Name=2; IsoId=Q9BPV8-2; Sequence=VSP_036226; 


uniprotID: Q5MIZ7
geneSymbol: PPP4R3B
name: Serine/threonine-protein phosphatase 4 regulatory subunit 3B (SMEK homolog 2)
length: 849
go: ENSG00000275052;
snps: rs34999684 rs2903704
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; protein phosphatase 4 complex [GO:0030289]; positive regulation of gluconeogenesis [GO:0045722]; protein dephosphorylation [GO:0006470]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5MIZ7-1; Sequence=Displayed; Name=2; IsoId=Q5MIZ7-2; Sequence=VSP_021261; Name=3; IsoId=Q5MIZ7-3; Sequence=VSP_021261, VSP_021262; Note=No experimental confirmation available.; Name=4; IsoId=Q5MIZ7-4; Sequence=VSP_021259, VSP_021260; Note=May be due to intron retention. No experimental confirmation available.; Name=5; IsoId=Q5MIZ7-5; Sequence=VSP_021258, VSP_021263; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18487071}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18487071}. Nucleus {ECO:0000269|PubMed:18487071}. Note=In interphase localized in the cytoplasm and (with higher levels) the nucleus. During metaphase located in pericentriolar regions.


uniprotID: Q6ZMV5
geneSymbol: PPP4R3C
name: Protein PPP4R3C (SMEK homolog 3) (Serine/threonine-protein phosphatase 4 regulatory subunit 3C)
length: 832
go: ENSG00000224960;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMV5-1; Sequence=Displayed; Name=2; IsoId=Q6ZMV5-2; Sequence=VSP_034762; Note=No experimental confirmation available.; 


uniprotID: P51575
geneSymbol: P2RX1
reactome: R-HSA-139853;R-HSA-418346;R-HSA-6798695;
name: P2X purinoceptor 1 (P2X1) (ATP receptor) (Purinergic receptor)
length: 399
go: ENSG00000108405;
snps: rs34617528
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic active zone membrane [GO:0099059]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; ATP binding [GO:0005524]; ATP-gated ion channel activity [GO:0035381]; cation channel activity [GO:0005261]; extracellularly ATP-gated cation channel activity [GO:0004931]; purinergic nucleotide receptor activity [GO:0001614]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; ATP hydrolysis coupled cation transmembrane transport [GO:0099132]; ATP hydrolysis coupled ion transmembrane transport [GO:0099131]; blood coagulation [GO:0007596]; cation transport [GO:0006812]; ceramide biosynthetic process [GO:0046513]; insemination [GO:0007320]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; neuronal action potential [GO:0019228]; neutrophil degranulation [GO:0043312]; platelet activation [GO:0030168]; positive regulation of ion transport [GO:0043270]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of presynaptic cytosolic calcium ion concentration [GO:0099509]; regulation of synaptic vesicle exocytosis [GO:2000300]; regulation of vascular smooth muscle contraction [GO:0003056]; response to ATP [GO:0033198]; serotonin secretion by platelet [GO:0002554]; signal transduction [GO:0007165]; synaptic transmission, glutamatergic [GO:0035249]


uniprotID: O15460
geneSymbol: P4HA2
reactome: R-HSA-1650814;
pdb: 6EVL;6EVM;6EVN;6EVO;6EVP;
length: 535
go: ENSG00000072682;
drug: DB00172;DB00139;
snps: rs764211125 rs771208496 rs758872875
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
name:
Prolyl 4-hydroxylase subunit alpha-2 (4-PH alpha-2) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; electron transfer activity [GO:0009055]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; procollagen-proline 4-dioxygenase activity [GO:0004656]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=IIb; IsoId=O15460-1; Sequence=Displayed; Name=IIa; IsoId=O15460-2; Sequence=VSP_004506; 


uniprotID: Q7Z4N8
geneSymbol: P4HA3
reactome: R-HSA-1650814;
length: 544
go: ENSG00000149380;
snps: rs2282488
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000305}.
name:
Prolyl 4-hydroxylase subunit alpha-3 (4-PH alpha-3) (EC 1.14.11.2) (Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; procollagen-proline 4-dioxygenase activity [GO:0004656]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z4N8-1; Sequence=Displayed; Name=2; IsoId=Q7Z4N8-2; Sequence=VSP_031146, VSP_031147; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z4N8-3; Sequence=VSP_054131; Note=No experimental confirmation available.; 


uniprotID: Q9NXG6
geneSymbol: P4HTM
length: 502
go: ENSG00000178467;
drug: DB00126;
name:
Transmembrane prolyl 4-hydroxylase (P4H-TM) (EC 1.14.11.-) (Hypoxia-inducible factor prolyl hydroxylase 4) (HIF-PH4) (HIF-prolyl hydroxylase 4) (HPH-4)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]; regulation of erythrocyte differentiation [GO:0045646]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXG6-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q9NXG6-2; Sequence=VSP_007574; Note=No experimental confirmation available.; Name=3; IsoId=Q9NXG6-3; Sequence=VSP_007573; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:17726031}; Single-pass type II membrane protein {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:17726031}.


uniprotID: Q93086
geneSymbol: P2RX5
reactome: R-HSA-139853;R-HSA-418346;
name: P2X purinoceptor 5 (P2X5) (ATP receptor) (Purinergic receptor)
length: 422
go: ENSG00000083454;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; ATP binding [GO:0005524]; ATP-gated ion channel activity [GO:0035381]; extracellularly ATP-gated cation channel activity [GO:0004931]; ion channel activity [GO:0005216]; purinergic nucleotide receptor activity [GO:0001614]; transmembrane signaling receptor activity [GO:0004888]; blood coagulation [GO:0007596]; cation transport [GO:0006812]; ion transmembrane transport [GO:0034220]; nervous system development [GO:0007399]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of calcium-mediated signaling [GO:0050850]; response to ATP [GO:0033198]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q93086-3; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q93086-1; Sequence=VSP_035587; Name=3; Synonyms=B; IsoId=Q93086-2; Sequence=VSP_004503, VSP_035587; Name=4; IsoId=Q93086-4; Sequence=VSP_035588; 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; IsoId=Q93086-5; Sequence=VSP_004503; 


uniprotID: O00459
geneSymbol: PIK3R2
pdb: 2KT1;2XS6;3MTT;3O5Z;
length: 728
go: ENSG00000105647;ENSG00000268173;
drug: DB01064;DB05210;
snps: rs2241088 rs1011320 rs587776934 rs886041591 rs587777624 rs372272045
reactome:
R-HSA-109704;R-HSA-112399;R-HSA-114604;R-HSA-1257604;R-HSA-1266695;R-HSA-1433557;R-HSA-1660499;R-HSA-186763;R-HSA-194840;R-HSA-198203;R-HSA-202424;R-HSA-2029485;R-HSA-210993;R-HSA-2219530;R-HSA-2424491;R-HSA-2730905;R-HSA-373753;R-HSA-388841;R-HSA-389357;R-HSA-416476;R-HSA-416482;R-HSA-4420097;R-HSA-512988;R-HSA-6811558;R-HSA-8853659;R-HSA-912526;R-HSA-912631;

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

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; GTPase activator activity [GO:0005096]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; phosphotyrosine residue binding [GO:0001784]; protein heterodimerization activity [GO:0046982]; protein phosphatase binding [GO:0019903]; receptor tyrosine kinase binding [GO:0030971]; cellular glucose homeostasis [GO:0001678]; cellular response to insulin stimulus [GO:0032869]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; insulin receptor signaling pathway [GO:0008286]; leukocyte migration [GO:0050900]; negative regulation of MAPK cascade [GO:0043409]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein transport [GO:0015031]; regulation of autophagy [GO:0010506]; regulation of phosphatidylinositol 3-kinase activity [GO:0043551]; regulation of small GTPase mediated signal transduction [GO:0051056]; response to endoplasmic reticulum stress [GO:0034976]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]


uniprotID: Q68DD2
geneSymbol: PLA2G4F
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483115;
name: Cytosolic phospholipase A2 zeta (cPLA2-zeta) (EC 3.1.1.4) (Phospholipase A2 group IVF)
length: 849
go: ENSG00000168907;
snps: rs636604 rs1356410
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosomal membrane [GO:0005765]; ruffle membrane [GO:0032587]; vesicle [GO:0031982]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; calcium-dependent phospholipid binding [GO:0005544]; lysophospholipase activity [GO:0004622]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; arachidonic acid secretion [GO:0050482]; cellular response to antibiotic [GO:0071236]; cellular response to organic cyclic compound [GO:0071407]; glycerophospholipid catabolic process [GO:0046475]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]; prostaglandin biosynthetic process [GO:0001516]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q68DD2-1; Sequence=Displayed; Name=2; IsoId=Q68DD2-2; Sequence=VSP_019888, VSP_019889; Note=No experimental confirmation available.; Name=3; IsoId=Q68DD2-3; Sequence=VSP_019887; Note=No experimental confirmation available.; 

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


uniprotID: P18509
geneSymbol: ADCYAP1
reactome: R-HSA-187024;R-HSA-418555;R-HSA-420092;
pdb: 1GEA;2D2P;2JOD;
length: 176
go: ENSG00000141433;
snps: rs2856966
location: SUBCELLULAR LOCATION: Secreted.
name:
Pituitary adenylate cyclase-activating polypeptide (PACAP) [Cleaved into: PACAP-related peptide (PRP-48); Pituitary adenylate cyclase-activating polypeptide 27 (PACAP-27) (PACAP27); Pituitary adenylate cyclase-activating polypeptide 38 (PACAP-38) (PACAP38)]

sequence:
MTMCSGARLALLVYGIIMHSSVYSSPAAAGLRFPGIRPEEEAYGEDGNPLPDFDGSEPPGAGSPASAPRAAAAWYRPAGRRDVAHGILNEAYRKVLDQLSAGKHLQSLVARGVGGSLGGGAGDDAEPLSKRHSDGIFTDSYSRYRKQMAVKKYLAAVLGKRYKQRVKNKGRRIAYL

opentargets:
cell body fiber [GO:0070852]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; terminal bouton [GO:0043195]; neuropeptide hormone activity [GO:0005184]; peptide hormone receptor binding [GO:0051428]; pituitary adenylate cyclase activating polypeptide activity [GO:0016521]; pituitary adenylate cyclase-activating polypeptide receptor binding [GO:0031858]; signaling receptor binding [GO:0005102]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; ATP metabolic process [GO:0046034]; behavioral fear response [GO:0001662]; cAMP-mediated signaling [GO:0019933]; cell-cell signaling [GO:0007267]; cellular response to glucocorticoid stimulus [GO:0071385]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; histamine secretion [GO:0001821]; insulin secretion [GO:0030073]; negative regulation of acute inflammatory response to antigenic stimulus [GO:0002865]; negative regulation of acute inflammatory response to non-antigenic stimulus [GO:0002878]; negative regulation of cell cycle [GO:0045786]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of GTPase activity [GO:0034260]; negative regulation of muscle cell apoptotic process [GO:0010656]; negative regulation of potassium ion transport [GO:0043267]; neuron projection development [GO:0031175]; neuropeptide signaling pathway [GO:0007218]; ovarian follicle development [GO:0001541]; pituitary gland development [GO:0021983]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemokine (C-C motif) ligand 5 production [GO:0071651]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of GTPase activity [GO:0043547]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of somatostatin secretion [GO:0090274]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of oligodendrocyte progenitor proliferation [GO:0070445]; regulation of postsynaptic membrane potential [GO:0060078]; regulation of protein localization [GO:0032880]; response to ethanol [GO:0045471]; response to starvation [GO:0042594]; sensory perception of pain [GO:0019233]


uniprotID: Q9BZM2
geneSymbol: PLA2G2F
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483166;
length: 168
go: ENSG00000158786;
name:
Group IIF secretory phospholipase A2 (GIIF sPLA2) (sPLA2-IIF) (EC 3.1.1.4) (Phosphatidylcholine 2-acylhydrolase 2F)

sequence:
MKKFFTVAILAGSVLSTAHGSLLNLKAMVEAVTGRSAILSFVGYGCYCGLGGRGQPKDEVDWCCHAHDCCYQELFDQGCHPYVDHYDHTIENNTEIVCSDLNKTECDKQTCMCDKNMVLCLMNQTYREEYRGFLNVYCQGPTPNCSIYEPPPEEVTCSHQSPAPPAPP

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; phospholipid binding [GO:0005543]; arachidonic acid secretion [GO:0050482]; innate immune response [GO:0045087]; lipid catabolic process [GO:0016042]; negative regulation of T cell proliferation [GO:0042130]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZM2-1; Sequence=Displayed; Name=2; IsoId=Q9BZM2-2; Sequence=VSP_037524; Note=No signal peptide could be predicted in this isoform, challenging its subcellular location within the secretory pathway and hence the formation of disulfide bonds, which are required for its activity. Gene prediction based on EST data. No experimental available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000250|UniProtKB:Q9QZT4}. Cell membrane; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9QZT4}.


uniprotID: Q8N7B6
geneSymbol: PACRGL
name: PACRG-like protein
length: 248
go: ENSG00000163138;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N7B6-1; Sequence=Displayed; Name=2; IsoId=Q8N7B6-2; Sequence=VSP_023206; Name=3; IsoId=Q8N7B6-3; Sequence=VSP_043351, VSP_023206; Note=No experimental confirmation available.; Name=4; IsoId=Q8N7B6-4; Sequence=VSP_045095, VSP_045096; 


uniprotID: Q8NEJ9
geneSymbol: NGDN
name: Neuroguidin (Centromere accumulated nuclear protein 1) (CANu1) (EIF4E-binding protein)
length: 315
go: ENSG00000129460;
snps: rs10149626 rs17093050
sequence:

opentargets:
axon [GO:0030424]; chromosome, centromeric region [GO:0000775]; dendrite [GO:0030425]; filopodium [GO:0030175]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEJ9-1; Sequence=Displayed; Name=2; IsoId=Q8NEJ9-2; Sequence=VSP_009935, VSP_009936; Note=May be due to a competing donor splice site.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, nucleolus {ECO:0000269|PubMed:18547334}. Chromosome, centromere {ECO:0000269|PubMed:18547334}. Cytoplasm {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Note=Detected in axons, dendrites and filopodia. Colocalized with EIF4E in neurites (By similarity). Translocated from nucleolus to nuclear foci in response to UV damage. {ECO:0000250}.


uniprotID: Q8WX92
geneSymbol: NELFB
pdb: 6GML;
name: Negative elongation factor B (NELF-B) (Cofactor of BRCA1)
length: 580
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11739404}.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;R-HSA-9603505;

sequence:

opentargets:
cytoplasm [GO:0005737]; NELF complex [GO:0032021]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]


uniprotID: Q92542
geneSymbol: NCSTN
pdb: 2N7Q;2N7R;4UIS;5A63;5FN2;5FN3;5FN4;5FN5;
name: Nicastrin
length: 709
go: ENSG00000162736;
snps: rs12045198 rs35603924
reactome:
R-HSA-1251985;R-HSA-1474228;R-HSA-193692;R-HSA-205043;R-HSA-2122948;R-HSA-2644606;R-HSA-2894862;R-HSA-2979096;R-HSA-3928665;R-HSA-6798695;R-HSA-9013507;R-HSA-9013700;R-HSA-9017802;

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; gamma-secretase complex [GO:0070765]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; membrane [GO:0016020]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; endopeptidase activity [GO:0004175]; amyloid precursor protein catabolic process [GO:0042987]; amyloid precursor protein metabolic process [GO:0042982]; amyloid-beta formation [GO:0034205]; epithelial cell proliferation [GO:0050673]; membrane protein ectodomain proteolysis [GO:0006509]; myeloid cell homeostasis [GO:0002262]; neutrophil degranulation [GO:0043312]; Notch receptor processing [GO:0007220]; Notch receptor processing, ligand-dependent [GO:0035333]; positive regulation of catalytic activity [GO:0043085]; protein processing [GO:0016485]; proteolysis [GO:0006508]; T cell proliferation [GO:0042098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92542-1; Sequence=Displayed; Name=2; IsoId=Q92542-2; Sequence=VSP_008385, VSP_008386; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:26776682}; Single-pass type I membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10993067}; Single-pass type I membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Melanosome {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q9Y239
geneSymbol: NOD1
reactome: R-HSA-168638;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5689896;R-HSA-9020702;
pdb: 2B1W;2DBD;2NSN;2NZ7;4E9M;4JQW;
length: 953
go: ENSG00000106100;
snps: rs2075820 rs5743342 rs2975634 rs5743345 rs5743346
name:
Nucleotide-binding oligomerization domain-containing protein 1 (Caspase recruitment domain-containing protein 4)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; CARD domain binding [GO:0050700]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; identical protein binding [GO:0042802]; peptidoglycan binding [GO:0042834]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of MAPK activity [GO:0000187]; apoptotic process [GO:0006915]; cellular response to muramyl dipeptide [GO:0071225]; defense response [GO:0006952]; defense response to bacterium [GO:0042742]; defense response to Gram-positive bacterium [GO:0050830]; detection of bacterium [GO:0016045]; detection of biotic stimulus [GO:0009595]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; interleukin-8 biosynthetic process [GO:0042228]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of xenophagy [GO:1904417]; protein complex oligomerization [GO:0051259]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y239-1; Sequence=Displayed; Name=2; IsoId=Q9Y239-2; Sequence=VSP_055825, VSP_055826; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Apical cell membrane. Basolateral cell membrane. Note=Detected in the cytoplasm and at the cell membrane. Following bacterial infection, localizes to bacterial entry sites in the cell membrane. Recruited to the basolateral and apical membranes in polarized epithelial cells.


uniprotID: Q9HC29
geneSymbol: NOD2
reactome: R-HSA-168638;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5689896;R-HSA-9020702;
length: 1040
go: ENSG00000167207;
name:
Nucleotide-binding oligomerization domain-containing protein 2 (Caspase recruitment domain-containing protein 15) (Inflammatory bowel disease protein 1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; vesicle [GO:0031982]; actin binding [GO:0003779]; ATP binding [GO:0005524]; CARD domain binding [GO:0050700]; enzyme binding [GO:0019899]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; muramyl dipeptide binding [GO:0032500]; peptidoglycan binding [GO:0042834]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; activation of MAPK activity [GO:0000187]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to muramyl dipeptide [GO:0071225]; cellular response to organic cyclic compound [GO:0071407]; cellular response to peptidoglycan [GO:0071224]; cytokine production involved in immune response [GO:0002367]; cytokine secretion involved in immune response [GO:0002374]; defense response [GO:0006952]; defense response to bacterium [GO:0042742]; detection of bacterium [GO:0016045]; detection of biotic stimulus [GO:0009595]; detection of muramyl dipeptide [GO:0032498]; innate immune response [GO:0045087]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; maintenance of gastrointestinal epithelium [GO:0030277]; negative regulation of macrophage apoptotic process [GO:2000110]; nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070431]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of B cell activation [GO:0050871]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of dendritic cell cytokine production [GO:0002732]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gamma-delta T cell activation [GO:0046645]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of JNK cascade [GO:0046330]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of oxidoreductase activity [GO:0051353]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of prostaglandin-E synthase activity [GO:2000363]; positive regulation of prostaglandin-endoperoxide synthase activity [GO:0060585]; positive regulation of protein K63-linked ubiquitination [GO:1902523]; positive regulation of stress-activated MAPK cascade [GO:0032874]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of type 2 immune response [GO:0002830]; protein complex oligomerization [GO:0051259]; regulation of inflammatory response [GO:0050727]; response to muramyl dipeptide [GO:0032495]; response to nutrient [GO:0007584]

snps:
rs34936594 rs104895468 rs34684955 rs104895420 rs61755182 rs104895422 rs104895423 rs2066842 rs5743271 rs104895424 rs104895425 rs104895426 rs104895427 rs104895461 rs104895462 rs104895428 rs5743272 rs104895469 rs104895470 rs145293873 rs104895476 rs104895493 rs104895477 rs104895481 rs104895429 rs104895431 rs2076754 rs104895432 rs104895482 rs104895492 rs104895460 rs1078327 rs104895494 rs104895480 rs104895478 rs104895472 rs104895473 rs104895471 rs104895479 rs104895474 rs104895438 rs104895439 rs104895475 rs5743276 rs2066844 rs5743277 rs104895440 rs104895483 rs5743278 rs61747625 rs104895442 rs3813758 rs104895443 rs5743279 rs62029861 rs104895484 rs104895444 rs104895485 rs104895445 rs104895486 rs104895467 rs104895446 rs104895447 rs2066845 rs104895452 rs104895453 rs5743291 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=1; Synonyms=Nod2; IsoId=Q9HC29-1; Sequence=Displayed; Note=Can activate NF-kappa-B. More abundant.; Name=2; Synonyms=Nod2b; IsoId=Q9HC29-2; Sequence=VSP_018689; Note=Can activate NF-kappa-B.; Name=3; Synonyms=NOD2-C2; IsoId=Q9HC29-3; Sequence=VSP_018689, VSP_046567, VSP_046568; Note=Can activate NF-kappa-B.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19701189, ECO:0000269|PubMed:24790089, ECO:0000269|PubMed:25093298}. Membrane {ECO:0000269|PubMed:25093298}. Mitochondrion {ECO:0000269|PubMed:19701189}. Basolateral cell membrane {ECO:0000269|PubMed:16203728}.


uniprotID: Q9NXX6
geneSymbol: NSMCE4A
reactome: R-HSA-3108214;
name: Non-structural maintenance of chromosomes element 4 homolog A (NS4EA) (Non-SMC element 4 homolog A)
length: 385
go: ENSG00000107672;
snps: rs1065683
sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Smc5-Smc6 complex [GO:0030915]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; positive regulation of response to DNA damage stimulus [GO:2001022]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXX6-1; Sequence=Displayed; Name=2; IsoId=Q9NXX6-2; Sequence=VSP_014601, VSP_014602; Note=No experimental confirmation available.; 

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


uniprotID: Q9UNZ2
geneSymbol: NSFL1C
pdb: 1SS6;
name: NSFL1 cofactor p47 (UBX domain-containing protein 2C) (p97 cofactor p47)
length: 370
go: ENSG00000088833;
snps: rs9575
sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; Golgi stack [GO:0005795]; intermediate filament cytoskeleton [GO:0045111]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; spindle pole centrosome [GO:0031616]; VCP-NSFL1C complex [GO:1990730]; ATPase binding [GO:0051117]; phospholipid binding [GO:0005543]; ubiquitin binding [GO:0043130]; autophagosome assembly [GO:0000045]; establishment of mitotic spindle orientation [GO:0000132]; Golgi organization [GO:0007030]; membrane fusion [GO:0061025]; negative regulation of protein localization to centrosome [GO:1904780]; nuclear envelope reassembly [GO:0031468]; positive regulation of mitotic centrosome separation [GO:0046604]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UNZ2-1; Sequence=Displayed; Name=2; IsoId=Q9UNZ2-4; Sequence=VSP_009263; Note=No experimental confirmation available.; Name=3; IsoId=Q9UNZ2-5; Sequence=VSP_009262; Name=4; IsoId=Q9UNZ2-6; Sequence=VSP_041062; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35987}. Golgi apparatus, Golgi stack {ECO:0000250|UniProtKB:O35987}. Chromosome {ECO:0000250|UniProtKB:O35987}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:O35987}. Note=Predominantly nuclear in interphase cells. Bound to the axial elements of sex chromosomes in pachytene spermatocytes. A small proportion of the protein is cytoplasmic, associated with Golgi stacks. Localizes to centrosome during mitotic prophase and metaphase. {ECO:0000250|UniProtKB:O35987}.


uniprotID: Q9P121
geneSymbol: NTM
reactome: R-HSA-163125;
name: Neurotrimin (hNT) (IgLON family member 2)
length: 344
go: ENSG00000182667;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; neuron recognition [GO:0008038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P121-1; Sequence=Displayed; Name=2; IsoId=Q9P121-2; Sequence=VSP_010939; Note=No experimental confirmation available.; Name=3; IsoId=Q9P121-3; Sequence=VSP_010940, VSP_010941; Note=No experimental confirmation available.; Name=4; IsoId=Q9P121-4; Sequence=VSP_041165; 


uniprotID: Q9NY27
geneSymbol: PPP4R2
reactome: R-HSA-5693607;
name: Serine/threonine-protein phosphatase 4 regulatory subunit 2
length: 417
go: ENSG00000163605;
snps: rs2306983 rs34742137
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase 4 complex [GO:0030289]; protein binding, bridging [GO:0030674]; protein phosphatase regulator activity [GO:0019888]; cellular protein modification process [GO:0006464]; mRNA processing [GO:0006397]; protein dephosphorylation [GO:0006470]; regulation of double-strand break repair via homologous recombination [GO:0010569]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NY27-1; Sequence=Displayed; Name=2; IsoId=Q9NY27-2; Sequence=VSP_027613; Note=No experimental confirmation available.; Name=3; IsoId=Q9NY27-3; Sequence=VSP_027612; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Note=Ionizing radiation induces relocalization to nuclear foci and colocalization with RPA2.


uniprotID: Q9P1A2
geneSymbol: PPP4R1L
name: Putative serine/threonine-protein phosphatase 4 regulatory subunit 1-like
length: 415
opentargets: protein phosphatase regulator activity [GO:0019888]; protein dephosphorylation [GO:0006470]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P1A2-1; Sequence=Displayed; Name=2; IsoId=Q9P1A2-3; Sequence=VSP_056120; Note=No experimental confirmation available.; 


uniprotID: Q02818
geneSymbol: NUCB1
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 1SNL;
name: Nucleobindin-1 (CALNUC)
length: 461
go: ENSG00000104805;
snps: rs35456905 rs200372110
sequence:

opentargets:
cis-Golgi network [GO:0005801]; early endosome [GO:0005769]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; extrinsic component of Golgi membrane [GO:0090498]; Golgi cisterna membrane [GO:0032580]; Golgi-associated vesicle [GO:0005798]; lumenal side of Golgi membrane [GO:0098547]; membrane [GO:0016020]; nucleus [GO:0005634]; rough endoplasmic reticulum [GO:0005791]; trans-Golgi network [GO:0005802]; calcium ion binding [GO:0005509]; DNA binding [GO:0003677]; G-protein alpha-subunit binding [GO:0001965]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]; regulation of protein targeting [GO:1903533]; response to cisplatin [GO:0072718]

location:
SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane {ECO:0000250|UniProtKB:Q63083}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q63083}; Lumenal side {ECO:0000250|UniProtKB:Q63083}. Cytoplasm {ECO:0000250|UniProtKB:Q63083}. Secreted {ECO:0000250|UniProtKB:Q63083}. Note=A small fraction of the protein may be cytoplasmic. {ECO:0000250|UniProtKB:Q63083}.


uniprotID: O60285
geneSymbol: NUAK1
reactome: R-HSA-6804756;
length: 661
go: ENSG00000074590;
snps: rs55774704 rs3741883
name:
NUAK family SNF1-like kinase 1 (EC 2.7.11.1) (AMPK-related protein kinase 5) (ARK5) (Omphalocele kinase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; protein serine/threonine kinase activity [GO:0004674]; cell adhesion [GO:0007155]; cellular response to DNA damage stimulus [GO:0006974]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; regulation of cell adhesion [GO:0030155]; regulation of cell proliferation [GO:0042127]; regulation of cellular senescence [GO:2000772]; regulation of myosin-light-chain-phosphatase activity [GO:0035507]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60285-1; Sequence=Displayed; Name=2; IsoId=O60285-2; Sequence=VSP_014236, VSP_014237; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21317932}. Cytoplasm {ECO:0000269|PubMed:21317932}.


uniprotID: Q8NFP7
geneSymbol: NUDT10
reactome: R-HSA-1855167;
pdb: 3MCF;
length: 164
go: ENSG00000122824;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:12121577}.
name:
Diphosphoinositol polyphosphate phosphohydrolase 3-alpha (DIPP-3-alpha) (DIPP3-alpha) (hDIPP3alpha) (EC 3.6.1.52) (Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-alpha) (Diadenosine hexaphosphate hydrolase (AMP-forming)) (EC 3.6.1.60) (Nucleoside diphosphate-linked moiety X motif 10) (Nudix motif 10) (hAps2)

sequence:
MKCKPNQTRTYDPEGFKKRAACLCFRSEREDEVLLVSSSRYPDRWIVPGGGMEPEEEPGGAAVREVYEEAGVKGKLGRLLGVFEQNQDPKHRTYVYVLTVTELLEDWEDSVSIGRKREWFKVEDAIKVLQCHKPVHAEYLEKLKLGGSPTNGNSMAPSSPDSDP

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


uniprotID: Q96G61
geneSymbol: NUDT11
reactome: R-HSA-1855167;
length: 164
go: ENSG00000196368;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12121577}.
name:
Diphosphoinositol polyphosphate phosphohydrolase 3-beta (DIPP-3-beta) (DIPP3-beta) (hDIPP3beta) (EC 3.6.1.52) (Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta) (Diadenosine hexaphosphate hydrolase (AMP-forming)) (EC 3.6.1.60) (Nucleoside diphosphate-linked moiety X motif 11) (Nudix motif 11) (hAps1)

sequence:
MKCKPNQTRTYDPEGFKKRAACLCFRSEREDEVLLVSSSRYPDRWIVPGGGMEPEEEPGGAAVREVYEEAGVKGKLGRLLGVFEQNQDRKHRTYVYVLTVTELLEDWEDSVSIGRKREWFKVEDAIKVLQCHKPVHAEYLEKLKLGGSPTNGNSMAPSSPDSDP

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


uniprotID: O95848
geneSymbol: NUDT14
reactome: R-HSA-480985;
pdb: 3Q91;
length: 222
go: ENSG00000183828;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12429023}.
name:
Uridine diphosphate glucose pyrophosphatase (UDPG pyrophosphatase) (UGPPase) (EC 3.6.1.45) (Nucleoside diphosphate-linked moiety X motif 14) (Nudix motif 14)

sequence:

opentargets:
cytosol [GO:0005829]; ADP-ribose diphosphatase activity [GO:0047631]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; UDP-sugar diphosphatase activity [GO:0008768]; protein N-linked glycosylation via asparagine [GO:0018279]


uniprotID: P11117
geneSymbol: ACP2
name: Lysosomal acid phosphatase (LAP) (EC 3.1.3.2)
length: 423
go: ENSG00000134575;
snps: rs2167079 rs34425282 rs4647764
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; acid phosphatase activity [GO:0003993]; lysosome organization [GO:0007040]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11117-1; Sequence=Displayed; Name=2; IsoId=P11117-2; Sequence=VSP_045629, VSP_045630; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:2684640, ECO:0000269|PubMed:3056714}; Single-pass membrane protein {ECO:0000255}; Lumenal side {ECO:0000305|PubMed:2684640, ECO:0000305|PubMed:3056714}. Lysosome lumen. Note=The soluble form arises by proteolytic processing of the membrane-bound form. {ECO:0000269|PubMed:2684640, ECO:0000269|PubMed:3056714}.


uniprotID: Q96DE0
geneSymbol: NUDT16
reactome: R-HSA-2393930;
pdb: 2XSQ;3COU;3MGM;6CO2;
length: 195
go: ENSG00000198585;
name:
U8 snoRNA-decapping enzyme (EC 3.6.1.62) (IDP phosphatase) (IDPase) (EC 3.6.1.64) (Inosine diphosphate phosphatase) (Nucleoside diphosphate-linked moiety X motif 16) (Nudix motif 16) (Nudix hydrolase 16) (U8 snoRNA-binding protein H29K) (m7GpppN-mRNA hydrolase)

sequence:
MAGARRLELGEALALGSGWRHACHALLYAPDPGMLFGRIPLRYAILMQMRFDGRLGFPGGFVDTQDRSLEDGLNRELREELGEAAAAFRVERTDYRSSHVGSGPRVVAHFYAKRLTLEELLAVEAGATRAKDHGLEVLGLVRVPLYTLRDGVGGLPTFLENSFIGSAREQLLEALQDLGLLQSGSISGLKIPAHH

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chloride ion binding [GO:0031404]; cobalt ion binding [GO:0050897]; dIDP diphosphatase activity [GO:0097383]; dITP diphosphatase activity [GO:0035870]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; IDP phosphatase activity [GO:1990003]; ITP binding [GO:1901641]; m7G(5')pppN diphosphatase activity [GO:0050072]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; metalloexopeptidase activity [GO:0008235]; mRNA binding [GO:0003729]; nucleotide phosphatase activity, acting on free nucleotides [GO:0098519]; phosphodiesterase decapping endonuclease activity [GO:1990174]; protein homodimerization activity [GO:0042803]; snoRNA binding [GO:0030515]; XTP binding [GO:1901640]; adenosine to inosine editing [GO:0006382]; dITP catabolic process [GO:0035863]; IDP catabolic process [GO:0046709]; mRNA catabolic process [GO:0006402]; negative regulation of rRNA processing [GO:2000233]; nucleobase-containing small molecule catabolic process [GO:0034656]; positive regulation of cell cycle process [GO:0090068]; positive regulation of cell proliferation [GO:0008284]; positive regulation of double-strand break repair [GO:2000781]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]; snoRNA catabolic process [GO:0016077]; XDP catabolic process [GO:1901639]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96DE0-1; Sequence=Displayed; Name=2; IsoId=Q96DE0-2; Sequence=VSP_045450, VSP_045451; Note=No experimental confirmation available.; Name=3; IsoId=Q96DE0-3; Sequence=VSP_045449, VSP_045452; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q96DE0-4; Sequence=VSP_045451; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20385596, ECO:0000269|PubMed:21337011}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q6TEC1}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q6TEC1}. Cytoplasm {ECO:0000269|PubMed:21070968, ECO:0000269|PubMed:21337011}. Note=Localized predominantly in the cytoplasm (PubMed:21070968). Localized in nucleolus, and in a minor proportion in distinct foci in the nucleoplasm (By similarity). {ECO:0000250|UniProtKB:Q6TEC1, ECO:0000269|PubMed:21070968}.


uniprotID: P0C025
geneSymbol: NUDT17
pdb: 5LF8;
name: Nucleoside diphosphate-linked moiety X motif 17 (Nudix motif 17) (EC 3.6.1.-)
length: 328
go: ENSG00000186364;
sequence:

opentargets:
cytosol [GO:0005829]; peroxisome [GO:0005777]; hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]; NADH pyrophosphatase activity [GO:0035529]; NAD catabolic process [GO:0019677]; NADH metabolic process [GO:0006734]; NADP catabolic process [GO:0006742]


uniprotID: Q96R84
geneSymbol: OR1F2P
reactome: R-HSA-381753;
name: Putative olfactory receptor 1F2 (OLFmf2)
length: 312
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGR8
geneSymbol: OR1L8
reactome: R-HSA-381753;
name: Olfactory receptor 1L8 (Olfactory receptor OR9-24)
length: 309
snps: rs10985704 rs10739614
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGS0
geneSymbol: OR1N1
reactome: R-HSA-381753;
length: 311
go: ENSG00000171505;
snps: rs10818708 rs58226717
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 1N1 (Olfactory receptor 1-26) (OR1-26) (Olfactory receptor 1N3) (Olfactory receptor OR9-22)

sequence:


uniprotID: Q96R48
geneSymbol: OR2A5
reactome: R-HSA-381753;
length: 311
go: ENSG00000221836;
snps: rs2961144 rs6464573 rs6464574
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 2A5 (Olfactory receptor 2A26) (Olfactory receptor 2A8) (Olfactory receptor 7-138/7-141) (OR7-138) (OR7-141)

sequence:


uniprotID: Q9GZK3
geneSymbol: OR2B2
reactome: R-HSA-381753;
name: Olfactory receptor 2B2 (Hs6M1-10) (Olfactory receptor 2B9) (Olfactory receptor 6-1) (OR6-1)
length: 357
snps: rs9368537 rs34957169 rs34788973
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGA0
geneSymbol: OR7G1
reactome: R-HSA-381753;
name: Olfactory receptor 7G1 (Olfactory receptor 19-15) (OR19-15) (Olfactory receptor OR19-8)
length: 311
snps: rs6511874 rs2217657 rs7246980 rs7246969 rs2195951
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NG99
geneSymbol: OR7G2
reactome: R-HSA-381753;
name: Olfactory receptor 7G2 (OST260) (Olfactory receptor 19-13) (OR19-13) (Olfactory receptor OR19-6)
length: 324
snps: rs4804401
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGU2
geneSymbol: OR9A4
reactome: R-HSA-381753;
name: Olfactory receptor 9A4 (Olfactory receptor OR7-1)
length: 314
go: ENSG00000258083;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9H210
geneSymbol: OR2D2
reactome: R-HSA-381753;
length: 308
go: ENSG00000166368;
snps: rs57896484 rs1965209 rs1965207 rs1965208 rs2741804 rs60116285
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 2D2 (HB2) (Olfactory receptor 11-610) (OR11-610) (Olfactory receptor 2D1) (Olfactory receptor OR11-88)

sequence:


uniprotID: P0DMU2
geneSymbol: OR8G3P
name: Putative olfactory receptor 8G3 pseudogene (Olfactory receptor OR11-297)
length: 310
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGQ1
geneSymbol: OR9G4
reactome: R-HSA-381753;
name: Olfactory receptor 9G4 (Olfactory receptor OR11-216)
length: 327
go: ENSG00000172457;
snps: rs11228763 rs577576 rs513873
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O95006
geneSymbol: OR2F2
reactome: R-HSA-381753;
name: Olfactory receptor 2F2 (Olfactory receptor 7-1) (OR7-1) (Olfactory receptor OR7-6)
length: 317
snps: rs2240359 rs13229174 rs13235235
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O95222
geneSymbol: OR6A2
reactome: R-HSA-381753;
length: 327
snps: rs7122644
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Olfactory receptor 6A2 (Olfactory receptor 11-55) (OR11-55) (Olfactory receptor 6A1) (Olfactory receptor OR11-83) (hP2 olfactory receptor)

sequence:

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


uniprotID: Q96R09
geneSymbol: OR5B2
reactome: R-HSA-381753;
name: Olfactory receptor 5B2 (OST073) (Olfactory receptor OR11-240)
length: 309
snps: rs4298923 rs10466659
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q96RD1
geneSymbol: OR6C1
reactome: R-HSA-381753;
name: Olfactory receptor 6C1 (OST267)
length: 312
go: ENSG00000205330;
snps: rs7132431 rs7132347 rs7132600 rs7132916
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF7
geneSymbol: OR5B17
reactome: R-HSA-381753;
name: Olfactory receptor 5B17 (Olfactory receptor 5B20) (Olfactory receptor OR11-237)
length: 314
go: ENSG00000197786;
snps: rs4939208 rs4127353
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGG8
geneSymbol: OR8B3
reactome: R-HSA-381753;
name: Olfactory receptor 8B3 (Olfactory receptor OR11-311)
length: 313
snps: rs507335 rs530992
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9BRQ5
geneSymbol: ORAI3
name: Protein orai-3 (Transmembrane protein 142C)
length: 295
go: ENSG00000175938;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

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


uniprotID: Q8NGZ6
geneSymbol: OR6F1
reactome: R-HSA-381753;
name: Olfactory receptor 6F1 (Olfactory receptor OR1-38)
length: 308
snps: rs60303431 rs6665599 rs2282316
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGY2
geneSymbol: OR6K2
reactome: R-HSA-381753;
name: Olfactory receptor 6K2 (Olfactory receptor OR1-17)
length: 324
snps: rs413029 rs423141 rs6686179
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGY3
geneSymbol: OR6K3
reactome: R-HSA-381753;
name: Olfactory receptor 6K3 (Olfactory receptor OR1-18)
length: 331
snps: rs857705 rs857704 rs151330882 rs857703 rs28568406 rs857702 rs16840675
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9P0S3
geneSymbol: ORMDL1
reactome: R-HSA-1660661;
name: ORM1-like protein 1 (Adoplin-1)
length: 153
go: ENSG00000128699;
sequence:
MNVGVAHSEVNPNTRVMNSRGMWLTYALGVGLLHIVLLSIPFFSVPVAWTLTNIIHNLGMYVFLHAVKGTPFETPDQGKARLLTHWEQLDYGVQFTSSRKFFTISPIILYFLASFYTKYDPTHFILNTASLLSVLIPKMPQLHGVRIFGINKY

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; SPOTS complex [GO:0035339]; cellular sphingolipid homeostasis [GO:0090156]; ceramide metabolic process [GO:0006672]; negative regulation of ceramide biosynthetic process [GO:1900060]

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


uniprotID: A6NHN0
geneSymbol: OTOL1
name: Otolin-1
length: 477
go: ENSG00000182447;
snps: rs3921595
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix organization [GO:0030198]; otolith mineralization [GO:0045299]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q4ZJM7}. Note=Localized in both the surrounding otoconial matrix and otoconia. {ECO:0000250|UniProtKB:Q4ZJM7}.


uniprotID: Q8TAX0
geneSymbol: OSR1
name: Protein odd-skipped-related 1
length: 266
go: ENSG00000143867;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell differentiation [GO:0030154]; cell proliferation involved in kidney development [GO:0072111]; cellular response to retinoic acid [GO:0071300]; chondrocyte differentiation [GO:0002062]; embryonic digit morphogenesis [GO:0042733]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic skeletal joint development [GO:0072498]; embryonic skeletal joint morphogenesis [GO:0060272]; embryonic skeletal limb joint morphogenesis [GO:0036023]; gonad development [GO:0008406]; heart development [GO:0007507]; intermediate mesoderm development [GO:0048389]; mesangial cell development [GO:0072143]; mesonephric duct morphogenesis [GO:0072180]; mesonephros development [GO:0001823]; metanephric cap mesenchymal cell proliferation involved in metanephros development [GO:0090094]; metanephric epithelium development [GO:0072207]; metanephric glomerulus vasculature development [GO:0072239]; metanephric interstitial fibroblast development [GO:0072259]; metanephric mesenchymal cell differentiation [GO:0072162]; metanephric mesenchyme development [GO:0072075]; metanephric mesenchyme morphogenesis [GO:0072133]; metanephric nephron tubule development [GO:0072234]; metanephric smooth muscle tissue development [GO:0072208]; middle ear morphogenesis [GO:0042474]; negative regulation of apoptotic process [GO:0043066]; negative regulation of creatine transmembrane transporter activity [GO:1905408]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of nephron tubule epithelial cell differentiation [GO:0072183]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; negative regulation of transcription by RNA polymerase II [GO:0000122]; odontogenesis [GO:0042476]; osmosensory signaling pathway [GO:0007231]; pattern specification involved in metanephros development [GO:0072268]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of bone mineralization [GO:0030501]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of gastrulation [GO:2000543]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; posterior mesonephric tubule development [GO:0072166]; pronephros development [GO:0048793]; renal vesicle progenitor cell differentiation [GO:0072184]; roof of mouth development [GO:0060021]; signal transduction by trans-phosphorylation [GO:0023016]; specification of anterior mesonephric tubule identity [GO:0072168]; specification of posterior mesonephric tubule identity [GO:0072169]; stem cell differentiation [GO:0048863]; ureter urothelium development [GO:0072190]; ureteric bud development [GO:0001657]; urogenital system development [GO:0001655]


uniprotID: Q9HC10
geneSymbol: OTOF
name: Otoferlin (Fer-1-like protein 2)
length: 1997
go: ENSG00000115155;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; membrane fusion [GO:0061025]; sensory perception of sound [GO:0007605]; synaptic vesicle exocytosis [GO:0016079]

snps:
rs1879761 rs13031859 rs397515611 rs80356585 rs80356586 rs55676840 rs80356592 rs2272070 rs80356570 rs201329629 rs80356596 rs80356574 rs397515599 rs56054534 rs80356576 rs546115388 rs80356579 rs17005371 rs11893228 rs397515606 rs28937591 rs45442103 rs80356583 rs80356605 rs80356606 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long; IsoId=Q9HC10-1; Sequence=Displayed; Name=2; Synonyms=Short-1; IsoId=Q9HC10-2; Sequence=VSP_001507, VSP_001508, VSP_001511; Name=3; Synonyms=Short-2; IsoId=Q9HC10-3; Sequence=VSP_001509, VSP_001510; Name=4; Synonyms=Short-3; IsoId=Q9HC10-4; Sequence=VSP_001507, VSP_001508; Name=5; IsoId=Q9HC10-5; Sequence=VSP_001511; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Basolateral cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs). Colocalizes with GPR25 and RAB8B in inner hair cells (By similarity). {ECO:0000250}.


uniprotID: P22059
geneSymbol: OSBP
reactome: R-HSA-1660661;R-HSA-192105;
pdb: 2RR3;
name: Oxysterol-binding protein 1
length: 807
go: ENSG00000110048;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; lipid binding [GO:0008289]; oxysterol binding [GO:0008142]; phosphatidylinositol-4-phosphate binding [GO:0070273]; protein domain specific binding [GO:0019904]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; bile acid biosynthetic process [GO:0006699]; intracellular cholesterol transport [GO:0032367]; positive regulation of growth of symbiont in host [GO:0044128]; sterol transport [GO:0015918]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24209621, ECO:0000269|PubMed:29514919}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:24209621}. Golgi apparatus membrane; Peripheral membrane protein {ECO:0000269|PubMed:24209621}. Endoplasmic reticulum membrane; Peripheral membrane protein {ECO:0000269|PubMed:24209621}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:29514919}. Note=Predominantly cytosolic. {ECO:0000269|PubMed:24209621}.


uniprotID: P47900
geneSymbol: P2RY1
reactome: R-HSA-416476;R-HSA-417957;R-HSA-418592;
pdb: 1Y36;4XNV;4XNW;
name: P2Y purinoceptor 1 (P2Y1) (ADP receptor) (Purinergic receptor)
length: 373
go: ENSG00000169860;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell body [GO:0044297]; cell surface [GO:0009986]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic active zone membrane [GO:0099059]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; A1 adenosine receptor binding [GO:0031686]; ADP binding [GO:0043531]; ADP-activated adenosine receptor activity [GO:0045032]; ATP binding [GO:0005524]; ATP-activated adenosine receptor activity [GO:0045031]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; protein heterodimerization activity [GO:0046982]; scaffold protein binding [GO:0097110]; signaling receptor activity [GO:0038023]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; aging [GO:0007568]; cell surface receptor signaling pathway [GO:0007166]; cellular response to ATP [GO:0071318]; cellular response to purine-containing compound [GO:0071415]; eating behavior [GO:0042755]; G protein-coupled receptor signaling pathway [GO:0007186]; glial cell migration [GO:0008347]; negative regulation of binding [GO:0051100]; negative regulation of norepinephrine secretion [GO:0010700]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; platelet activation [GO:0030168]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of hormone secretion [GO:0046887]; positive regulation of inositol trisphosphate biosynthetic process [GO:0032962]; positive regulation of ion transport [GO:0043270]; positive regulation of penile erection [GO:0060406]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein localization to plasma membrane [GO:0072659]; regulation of blood vessel diameter [GO:0097746]; regulation of cell shape [GO:0008360]; regulation of presynaptic cytosolic calcium ion concentration [GO:0099509]; regulation of signaling receptor activity [GO:0010469]; regulation of synaptic vesicle exocytosis [GO:2000300]; relaxation of muscle [GO:0090075]; response to growth factor [GO:0070848]; response to mechanical stimulus [GO:0009612]; sensory perception of pain [GO:0019233]; signal transduction involved in regulation of gene expression [GO:0023019]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25822790}; Multi-pass membrane protein {ECO:0000269|PubMed:25822790}.


uniprotID: O00443
geneSymbol: PIK3C2A
reactome: R-HSA-1660499;R-HSA-1660514;R-HSA-1660516;R-HSA-1660517;R-HSA-432722;R-HSA-8856828;
pdb: 2AR5;2IWL;2REA;2RED;
length: 1686
go: ENSG00000011405;
snps: rs11604561
name:
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha (PI3K-C2-alpha) (PtdIns-3-kinase C2 subunit alpha) (EC 2.7.1.154) (Phosphoinositide 3-kinase-C2-alpha)

sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nucleus [GO:0005634]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-4-phosphate 3-kinase activity [GO:0035005]; ATP binding [GO:0005524]; phosphatidylinositol 3-kinase activity [GO:0035004]; phosphatidylinositol binding [GO:0035091]; cell migration [GO:0016477]; clathrin coat assembly [GO:0048268]; endocytosis [GO:0006897]; epidermal growth factor receptor signaling pathway [GO:0007173]; exocytosis [GO:0006887]; insulin receptor signaling pathway [GO:0008286]; membrane organization [GO:0061024]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-3-phosphate biosynthetic process [GO:0036092]; phosphatidylinositol-mediated signaling [GO:0048015]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; vascular smooth muscle contraction [GO:0014829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00443-1; Sequence=Displayed; Name=2; IsoId=O00443-2; Sequence=VSP_056158; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10766823, ECO:0000269|PubMed:11239472, ECO:0000269|PubMed:17038310}. Golgi apparatus {ECO:0000269|PubMed:10766823, ECO:0000269|PubMed:11239472}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:10766823, ECO:0000269|PubMed:11239472}. Nucleus {ECO:0000269|PubMed:11606566}. Cytoplasm {ECO:0000269|PubMed:11606566, ECO:0000269|PubMed:14563213}. Note=Inserts preferentially into membranes containing PtdIns(4,5)P2 (PubMed:17038310). Associated with RNA-containing structures (PubMed:11606566). {ECO:0000269|PubMed:11606566, ECO:0000269|PubMed:17038310}.


uniprotID: Q86VZ1
geneSymbol: P2RY8
name: P2Y purinoceptor 8 (P2Y8)
length: 359
go: ENSG00000182162;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: Q06416
geneSymbol: POU5F1B
length: 359
go: ENSG00000212993;
snps: rs1061394 rs1061395 rs6998061 rs13273814 rs13274084 rs7002225 rs556361752
name:
Putative POU domain, class 5, transcription factor 1B (Oct4-pg1) (Octamer-binding protein 3-like) (Octamer-binding transcription factor 3-like)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00530, ECO:0000269|PubMed:18949397}.


uniprotID: Q8TCG2
geneSymbol: PI4K2B
reactome: R-HSA-1483248;R-HSA-1660499;R-HSA-1660514;R-HSA-1660516;
pdb: 4WTV;
length: 481
go: ENSG00000038210;
snps: rs313549
name:
Phosphatidylinositol 4-kinase type 2-beta (EC 2.7.1.67) (Phosphatidylinositol 4-kinase type II-beta) (PI4KII-BETA)

sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; membrane [GO:0016020]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; 1-phosphatidylinositol 4-kinase activity [GO:0004430]; ATP binding [GO:0005524]; endosome organization [GO:0007032]; Golgi organization [GO:0007030]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol phosphorylation [GO:0046854]

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=Mostly cytoplasmic but also found associated with the plasma membrane, the Golgi and endosomes. Compared to PI4K2A, a larger fraction of PI4K2B is cytosolic due to a smaller extent of palmitoylation. Translocates to membranes where it is recruited by PDGF stimulation by a Rac-GTP-dependent mechanism.


uniprotID: O15547
geneSymbol: P2RX6
reactome: R-HSA-139853;R-HSA-418346;
length: 441
go: ENSG00000099957;
snps: rs2006846 rs2277838
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
P2X purinoceptor 6 (P2X6) (ATP receptor) (P2XM) (Purinergic receptor) (Purinergic receptor P2X-like 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuronal cell body [GO:0043025]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; ATP-gated ion channel activity [GO:0035381]; channel activity [GO:0015267]; extracellularly ATP-gated cation channel activity [GO:0004931]; identical protein binding [GO:0042802]; purinergic nucleotide receptor activity [GO:0001614]; transmembrane signaling receptor activity [GO:0004888]; blood coagulation [GO:0007596]; cation transport [GO:0006812]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; response to ATP [GO:0033198]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15547-1; Sequence=Displayed; Name=2; IsoId=O15547-2; Sequence=VSP_044799; Note=No experimental confirmation available.; 


uniprotID: Q9H3D4
geneSymbol: TP63
reactome: R-HSA-139915;R-HSA-5628897;R-HSA-6803204;R-HSA-6803205;R-HSA-6803207;R-HSA-6803211;R-HSA-6804759;
pdb: 1RG6;2NB1;2RMN;2Y9T;2Y9U;3QYM;3QYN;3US0;3US1;3US2;3ZY0;3ZY1;4A9Z;6FGN;
length: 680
go: ENSG00000073282;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12446779, ECO:0000269|PubMed:20123734}.
name:
Tumor protein 63 (p63) (Chronic ulcerative stomatitis protein) (CUSP) (Keratinocyte transcription factor KET) (Transformation-related protein 63) (TP63) (Tumor protein p73-like) (p73L) (p40) (p51)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; rough endoplasmic reticulum [GO:0005791]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; identical protein binding [GO:0042802]; MDM2/MDM4 family protein binding [GO:0097371]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; WW domain binding [GO:0050699]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; chromatin remodeling [GO:0006338]; cloacal septation [GO:0060197]; cranial skeletal system development [GO:1904888]; ectoderm and mesoderm interaction [GO:0007499]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; epidermal cell division [GO:0010481]; epithelial cell development [GO:0002064]; establishment of planar polarity [GO:0001736]; establishment of skin barrier [GO:0061436]; female genitalia morphogenesis [GO:0048807]; hair follicle morphogenesis [GO:0031069]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; keratinocyte differentiation [GO:0030216]; multicellular organism aging [GO:0010259]; negative regulation of cellular senescence [GO:2000773]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of keratinocyte differentiation [GO:0045617]; negative regulation of mesoderm development [GO:2000381]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron apoptotic process [GO:0051402]; Notch signaling pathway [GO:0007219]; odontogenesis of dentin-containing tooth [GO:0042475]; polarized epithelial cell differentiation [GO:0030859]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of fibroblast apoptotic process [GO:2000271]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of somatic stem cell population maintenance [GO:1904674]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-anal tail morphogenesis [GO:0036342]; prostatic bud formation [GO:0060513]; protein homotetramerization [GO:0051289]; proximal/distal pattern formation [GO:0009954]; regulation of apoptotic process [GO:0042981]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; regulation of epidermal cell division [GO:0010482]; regulation of signal transduction by p53 class mediator [GO:1901796]; replicative cell aging [GO:0001302]; skeletal system development [GO:0001501]; skin morphogenesis [GO:0043589]; spermatogenesis [GO:0007283]; squamous basal epithelial stem cell differentiation involved in prostate gland acinus development [GO:0060529]; sympathetic nervous system development [GO:0048485]

snps:
rs193287780 rs121908838 rs121908836 rs121908835 rs121908849 rs121908840 rs121908839 rs886039442 rs113993967 rs121908841 rs886041251 rs121908837 rs121908844 rs121908847 rs121908845 rs121908842 rs121908843 rs121908846 rs767906723 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=12;  Name=1; Synonyms=TA*-alpha, TAp63alpha, P51B; IsoId=Q9H3D4-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=DeltaN-alpha, DeltaNp63 alpha, P51delNalpha; IsoId=Q9H3D4-2; Sequence=VSP_012465; Note=Produced by alternative promoter usage.; Name=3; Synonyms=TA*-beta, TAp63beta; IsoId=Q9H3D4-3; Sequence=VSP_012470; Note=Produced by alternative splicing of isoform 1.; Name=4; Synonyms=DeltaN-beta, DeltaNp63 beta, P51delNbeta; IsoId=Q9H3D4-4; Sequence=VSP_012465, VSP_012470; Note=Produced by alternative splicing of isoform 2.; Name=5; Synonyms=TA*-gamma, TAp63gamma, P51A; IsoId=Q9H3D4-5; Sequence=VSP_012468; Note=Produced by alternative splicing of isoform 1.; Name=6; Synonyms=DeltaN-gamma, DeltaNp63gamma, P51delNgamma; IsoId=Q9H3D4-6; Sequence=VSP_012465, VSP_012468; Note=Produced by alternative splicing of isoform 2.; Name=7; Synonyms=TA*-delta, TAp63delta, P51delta; IsoId=Q9H3D4-7; Sequence=VSP_012469; Note=Produced by alternative splicing of isoform 1.; Name=8; Synonyms=DeltaN-delta; IsoId=Q9H3D4-8; Sequence=VSP_012465, VSP_012469; Note=Produced by alternative splicing of isoform 2. No experimental confirmation available.; Name=9; Synonyms=TA*-epsilon; IsoId=Q9H3D4-9; Sequence=VSP_012466; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available.; Name=10; Synonyms=DeltaN-epsilon, DeltaNp73L; IsoId=Q9H3D4-10; Sequence=VSP_012465, VSP_012466; Note=Produced by alternative splicing of isoform 2.; Name=11; Synonyms=P63 delta; IsoId=Q9H3D4-11; Sequence=VSP_012467; Note=Produced by alternative splicing of isoform 1.; Name=12; IsoId=Q9H3D4-12; Sequence=VSP_012465, VSP_012467; Note=Produced by alternative splicing of isoform 2. No experimental confirmation available.; 


uniprotID: Q8WXI9
geneSymbol: GATAD2B
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;
name: Transcriptional repressor p66-beta (GATA zinc finger domain-containing protein 2B) (p66/p68)
length: 593
go: ENSG00000143614;
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; NuRD complex [GO:0016581]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; ATP-dependent chromatin remodeling [GO:0043044]; negative regulation of transcription by RNA polymerase II [GO:0000122]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:11756549, ECO:0000269|PubMed:12183469, ECO:0000269|PubMed:16415179}. Note=Speckled nuclear localization requires both CR1 and CR2 regions.


uniprotID: P04054
geneSymbol: PLA2G1B
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483166;
pdb: 1YSK;3ELO;
name: Phospholipase A2 (EC 3.1.1.4) (Group IB phospholipase A2) (Phosphatidylcholine 2-acylhydrolase 1B)
length: 148
go: ENSG00000170890;
drug: DB07836;DB03565;DB02659;DB02938;DB03633;DB02448;DB04552;DB02795;DB07657;DB03587;DB00795;
snps: rs5632 rs5636 rs5635
sequence:
MKLLVLAVLLTVAAADSGISPRAVWQFRKMIKCVIPGSDPFLEYNNYGCYCGLGGSGTPVDELDKCCQTHDNCYDQAKKLDSCKFLLDNPYTHTYSYSCSGSAITCSSKNKECEAFICNCDRNAAICFSKAPYNKAHKNLDTKKYCQS

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; bile acid binding [GO:0032052]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; phospholipid binding [GO:0005543]; signaling receptor binding [GO:0005102]; actin filament organization [GO:0007015]; activation of MAPK activity [GO:0000187]; activation of phospholipase A2 activity [GO:0032431]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; arachidonic acid secretion [GO:0050482]; cellular response to insulin stimulus [GO:0032869]; defense response to Gram-positive bacterium [GO:0050830]; fatty acid biosynthetic process [GO:0006633]; innate immune response in mucosa [GO:0002227]; interleukin-8 production [GO:0032637]; intracellular signal transduction [GO:0035556]; leukotriene biosynthetic process [GO:0019370]; lipid catabolic process [GO:0016042]; neutrophil chemotaxis [GO:0030593]; neutrophil mediated immunity [GO:0002446]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylcholine metabolic process [GO:0046470]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of immune response [GO:0050778]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein secretion [GO:0050714]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of glucose import [GO:0046324]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19297324}. Note=secreted from pancreatic acinar cells in its inactive form.


uniprotID: Q8NFH5
geneSymbol: NUP35
pdb: 4LIR;
length: 326
go: ENSG00000163002;
name:
Nucleoporin NUP35 (35 kDa nucleoporin) (Mitotic phosphoprotein 44) (MP-44) (Nuclear pore complex protein Nup53) (Nucleoporin NUP53)

sequence:

opentargets:
nuclear envelope [GO:0005635]; nuclear lamina [GO:0005652]; nuclear membrane [GO:0031965]; nuclear pore central transport channel [GO:0044613]; nuclear pore nuclear basket [GO:0044615]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; phospholipid binding [GO:0005543]; single-stranded DNA binding [GO:0003697]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; NLS-bearing protein import into nucleus [GO:0006607]; nuclear pore organization [GO:0006999]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NFH5-1; Sequence=Displayed; Name=2; IsoId=Q8NFH5-2; Sequence=VSP_056211; Note=No experimental confirmation available.; Name=3; IsoId=Q8NFH5-3; Sequence=VSP_056210; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:12196509}. Nucleus membrane {ECO:0000269|PubMed:15703211}; Peripheral membrane protein {ECO:0000269|PubMed:15703211}. Note=Tightly associated with the nuclear membrane and lamina. {ECO:0000269|PubMed:15703211}.


uniprotID: Q6UWF7
geneSymbol: NXPE4
name: NXPE family member 4 (Protein FAM55D)
length: 544
go: ENSG00000137634;
opentargets: extracellular exosome [GO:0070062]
snps: rs550897 rs10891705
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWF7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6UWF7-2; Sequence=VSP_014701; 


uniprotID: Q9NZP5
geneSymbol: OR5AC2
reactome: R-HSA-381753;
name: Olfactory receptor 5AC2 (HSA1)
length: 309
go: ENSG00000196578;
snps: rs4518168
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NG77
geneSymbol: OR2T12
reactome: R-HSA-381753;
name: Olfactory receptor 2T12 (Olfactory receptor OR1-57)
length: 320
snps: rs12135684 rs6678138 rs12137982 rs11204625 rs6667171
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O60404
geneSymbol: OR10H3
reactome: R-HSA-381753;
name: Olfactory receptor 10H3 (Olfactory receptor OR19-24)
length: 316
snps: rs1966357 rs2240227 rs11670007 rs2240228 rs2240229
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH95
geneSymbol: OR13C6P
length: 151
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Putative olfactory receptor 13C6 (Olfactory receptor, family 13, subfamily C, member 6 pseudogene) (Olfactory receptor, family 13, subfamily C, member 7 pseudogene) (Putative olfactory receptor 13C7)

sequence:
MVSANQTASVTEFILLGLSAHPKLEKTFFVLILLMYLVILLGNGVLILMTVSNSHLHMPMYFFLGNLSFLDICYTTSSVPLILDSFLTPRKTISFSACAVQMFLSFAMGATECVLLSMMAFDRYVAICNPLRYPVVMSKAAYMPIRLPAPG


uniprotID: Q8NH61
geneSymbol: OR51F2
reactome: R-HSA-381753;
name: Olfactory receptor 51F2 (Olfactory receptor OR11-23)
length: 342
go: ENSG00000176925;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q9BVL2
geneSymbol: NUP58
pdb: 4JO7;4JO9;4JQ5;5IJN;5IJO;
name: Nucleoporin p58/p45 (58 kDa nucleoporin) (Nucleoporin-like protein 1)
length: 599
go: ENSG00000139496;
snps: rs11556093 rs12871608
sequence:

opentargets:
nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nuclear localization sequence binding [GO:0008139]; structural constituent of nuclear pore [GO:0017056]; mRNA export from nucleus [GO:0006406]; protein heterotetramerization [GO:0051290]; protein heterotrimerization [GO:0070208]; protein homooligomerization [GO:0051260]; regulation of protein import into nucleus [GO:0042306]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=p58; IsoId=Q9BVL2-1; Sequence=Displayed; Name=2; IsoId=Q9BVL2-2; Sequence=VSP_007946, VSP_007947; Name=3; IsoId=Q9BVL2-3; Sequence=VSP_045658; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000250|UniProtKB:P70581}. Nucleus membrane {ECO:0000250|UniProtKB:P70581}; Peripheral membrane protein {ECO:0000250|UniProtKB:P70581}; Cytoplasmic side {ECO:0000250|UniProtKB:P70581}. Nucleus membrane {ECO:0000250|UniProtKB:P70581}; Peripheral membrane protein {ECO:0000250|UniProtKB:P70581}; Nucleoplasmic side {ECO:0000250|UniProtKB:P70581}. Note=Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the transporter. {ECO:0000250|UniProtKB:P70581}.


uniprotID: Q8NGJ5
geneSymbol: OR51L1
reactome: R-HSA-381753;
name: Olfactory receptor 51L1 (Olfactory receptor OR11-31)
length: 315
go: ENSG00000176798;
snps: rs10768448 rs10768450
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IF36
geneSymbol: OR8G2P
reactome: R-HSA-381753;
length: 304
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
name:
Putative olfactory receptor 8G2 (Olfactory receptor 8G4) (Olfactory receptor OR11-292) (Olfactory receptor TPCR120)

sequence:


uniprotID: Q6IF82
geneSymbol: OR4A47
reactome: R-HSA-381753;
name: Olfactory receptor 4A47 (Olfactory receptor OR11-113)
length: 309
go: ENSG00000237388;
snps: rs12805819 rs7103557 rs7103992 rs7103932
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NGF0
geneSymbol: OR52B6
reactome: R-HSA-381753;
name: Olfactory receptor 52B6 (Olfactory receptor OR11-47)
length: 335
snps: rs1077126 rs2341432 rs2341433 rs2341434 rs10769086
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: A0A2R8Y4Y8
geneSymbol: OOSP4B
name: Oocyte-secreted protein 4B
length: 160
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MKTSVLLAITAMCSDDWLLVRMKIRPFDKNTDIRIGDIHLRDNCPVTRLLSFNYAFSYPVTSCGIKKIMFQTNDDAILSEISYKPRLHTTYEFPVVCFVKRLKFPSVMHFGMSGFDAHTLKEIPQKTKGQESPTPTQSKTWTLNFNSVNKEQLSKKSLYQ


uniprotID: Q9BXW6
geneSymbol: OSBPL1A
reactome: R-HSA-192105;R-HSA-2132295;
name: Oxysterol-binding protein-related protein 1 (ORP-1) (OSBP-related protein 1)
length: 950
go: ENSG00000141447;
snps: rs35693789
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; membrane [GO:0016020]; cholesterol binding [GO:0015485]; lipid binding [GO:0008289]; phospholipid binding [GO:0005543]; sterol binding [GO:0032934]; sterol transporter activity [GO:0015248]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; bile acid biosynthetic process [GO:0006699]; cholesterol metabolic process [GO:0008203]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=B; Synonyms=OSBPL1B, OSBP8L, ORP1L; IsoId=Q9BXW6-1; Sequence=Displayed; Name=A; Synonyms=OSBPL1A, OSBP8S; IsoId=Q9BXW6-2; Sequence=VSP_003779; Name=4; IsoId=Q9BXW6-4; Sequence=VSP_045443; 

location:
SUBCELLULAR LOCATION: Late endosome {ECO:0000269|PubMed:16176980}. Note=Colocalizes with RAB7A, RAB9A and LAMP1 in late endosomes.


uniprotID: P14920
geneSymbol: DAO
reactome: R-HSA-389661;R-HSA-9033241;
pdb: 2DU8;2E48;2E49;2E4A;2E82;2GNZ;3CUK;3G3E;3W4I;3W4J;3W4K;3ZNN;3ZNO;3ZNP;3ZNQ;4QFC;4QFD;
name: D-amino-acid oxidase (DAAO) (DAMOX) (DAO) (EC 1.4.3.3)
length: 347
go: ENSG00000110887;
drug: DB04166;DB03793;DB03225;DB03147;DB03531;DB02988;
location: SUBCELLULAR LOCATION: Peroxisome.
sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; cofactor binding [GO:0048037]; D-amino-acid oxidase activity [GO:0003884]; FAD binding [GO:0071949]; protein dimerization activity [GO:0046983]; signaling receptor binding [GO:0005102]; cellular nitrogen compound metabolic process [GO:0034641]; D-alanine catabolic process [GO:0055130]; D-serine catabolic process [GO:0036088]; D-serine metabolic process [GO:0070178]; dopamine biosynthetic process [GO:0042416]; proline catabolic process [GO:0006562]; protein targeting to peroxisome [GO:0006625]


uniprotID: Q9NUU6
geneSymbol: OTULINL
name: Inactive ubiquitin thioesterase OTULINL
length: 356
go: ENSG00000145569;
snps: rs16903574
sequence:


uniprotID: Q3SYA9
geneSymbol: POM121L1P
name: Putative POM121-like protein 1
length: 428
sequence:


uniprotID: P83859
geneSymbol: QRFP
reactome: R-HSA-389397;R-HSA-416476;
length: 136
go: ENSG00000188710;
snps: rs12340616
location: SUBCELLULAR LOCATION: Secreted.
name:
Orexigenic neuropeptide QRFP (P518) [Cleaved into: QRF-amide (Neuropeptide RF-amide) (Pyroglutamylated arginine-phenylalanine-amide peptide)]

sequence:
MVRPYPLIYFLFLPLGACFPLLDRREPTDAMGGLGAGERWADLAMGPRPHSVWGSSRWLRASQPQALLVIARGLQTSGREHAGCRFRFGRQDEGSEATGFLPAAGEKTSGPLGNLAEELNGYSRKKGGFSFRFGRR

opentargets:
extracellular region [GO:0005576]; neuropeptide hormone activity [GO:0005184]; orexigenic neuropeptide QRFP receptor binding [GO:0031854]; G protein-coupled receptor signaling pathway [GO:0007186]; grooming behavior [GO:0007625]; locomotory behavior [GO:0007626]; neuropeptide signaling pathway [GO:0007218]; positive regulation of blood pressure [GO:0045777]; regulation of feeding behavior [GO:0060259]


uniprotID: Q86U42
geneSymbol: PABPN1
reactome: R-HSA-109688;R-HSA-168315;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 3B4D;3B4M;3UCG;
length: 306
go: ENSG00000100836;
name:
Polyadenylate-binding protein 2 (PABP-2) (Poly(A)-binding protein 2) (Nuclear poly(A)-binding protein 1) (Poly(A)-binding protein II) (PABII) (Polyadenylate-binding nuclear protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear inclusion body [GO:0042405]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; RNA binding [GO:0003723]; RNA polymerase binding [GO:0070063]; cellular response to lipopolysaccharide [GO:0071222]; MAPK cascade [GO:0000165]; modification by virus of host mRNA processing [GO:0046778]; mRNA 3'-end processing [GO:0031124]; mRNA splicing, via spliceosome [GO:0000398]; muscle contraction [GO:0006936]; poly(A)+ mRNA export from nucleus [GO:0016973]; positive regulation of polynucleotide adenylyltransferase activity [GO:1904247]; RNA processing [GO:0006396]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86U42-1; Sequence=Displayed; Name=2; IsoId=Q86U42-2; Sequence=VSP_009847, VSP_009848; Note=May be due to a competing donor splice site.; Name=3; Synonyms=BCL2L2-PABPN1; IsoId=Q92843-2; Sequence=External; Note=Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11001936, ECO:0000269|PubMed:14663186, ECO:0000269|PubMed:27209344}. Cytoplasm {ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11001936, ECO:0000269|PubMed:14663186, ECO:0000269|PubMed:17289661}. Nucleus speckle {ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11371506}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus (PubMed:10688363). Its nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism (By similarity). Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity). Intranuclear filamentous inclusions or "aggregates" are detected in the myocytes of patients; these inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA. {ECO:0000250|UniProtKB:Q28165, ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11001936, ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:14663186, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:27209344}.


uniprotID: P28072
geneSymbol: PSMB6
length: 239
go: ENSG00000142507;
snps: rs2304974
pdb:
4R3O;4R67;5A0Q;5GJQ;5GJR;5L4G;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;

name:
Proteasome subunit beta type-6 (EC 3.4.25.1) (Macropain delta chain) (Multicatalytic endopeptidase complex delta chain) (Proteasome delta chain) (Proteasome subunit Y)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; cadherin binding [GO:0045296]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12181345}. Nucleus {ECO:0000269|PubMed:12181345}.


uniprotID: P41586
geneSymbol: ADCYAP1R1
reactome: R-HSA-187024;R-HSA-418555;R-HSA-420092;
pdb: 2JOD;3N94;
length: 468
go: ENSG00000078549;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Pituitary adenylate cyclase-activating polypeptide type I receptor (PACAP type I receptor) (PACAP-R-1) (PACAP-R1)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; caveola [GO:0005901]; cell surface [GO:0009986]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; rough endoplasmic reticulum [GO:0005791]; adenylate cyclase binding [GO:0008179]; ADP-ribosylation factor binding [GO:0030306]; G protein-coupled peptide receptor activity [GO:0008528]; neuropeptide binding [GO:0042923]; peptide hormone binding [GO:0017046]; signaling receptor activity [GO:0038023]; vasoactive intestinal polypeptide receptor activity [GO:0004999]; activation of phospholipase C activity [GO:0007202]; cAMP-mediated signaling [GO:0019933]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; development of primary female sexual characteristics [GO:0046545]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organismal response to stress [GO:0033555]; negative regulation of cell death [GO:0060548]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of inositol phosphate biosynthetic process [GO:0060732]; positive regulation of small GTPase mediated signal transduction [GO:0051057]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=N; IsoId=P41586-1; Sequence=Displayed; Name=N-HOP1; IsoId=P41586-2; Sequence=VSP_042671; Name=S; IsoId=P41586-3; Sequence=VSP_042670; Name=S-HOP1; IsoId=P41586-4; Sequence=VSP_042670, VSP_042671; Name=VS; IsoId=P41586-5; Sequence=VSP_042669, VSP_042670; 


uniprotID: Q8NCC3
geneSymbol: PLA2G15
reactome: R-HSA-1483115;
pdb: 4X90;4X91;4X92;4X93;4X94;4X95;4X97;
length: 412
go: ENSG00000103066;
name:
Group XV phospholipase A2 (EC 2.3.1.-) (1-O-acylceramide synthase) (ACS) (LCAT-like lysophospholipase) (LLPL) (Lysophospholipase 3) (Lysosomal phospholipase A2) (LPLA2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; calcium-independent phospholipase A2 activity [GO:0047499]; lysophospholipase activity [GO:0004622]; O-acyltransferase activity [GO:0008374]; phospholipid binding [GO:0005543]; ceramide metabolic process [GO:0006672]; fatty acid catabolic process [GO:0009062]; glycerophospholipid metabolic process [GO:0006650]; phosphatidylcholine catabolic process [GO:0034638]; phosphatidylethanolamine catabolic process [GO:0046338]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCC3-1; Sequence=Displayed; Name=2; IsoId=Q8NCC3-2; Sequence=VSP_056689, VSP_056690; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:23958596}. Secreted {ECO:0000269|PubMed:10092508, ECO:0000269|PubMed:20410020}. Membrane {ECO:0000269|PubMed:25727495}; Peripheral membrane protein {ECO:0000269|PubMed:25727495}.


uniprotID: Q9NQU5
geneSymbol: PAK6
reactome: R-HSA-428540;
pdb: 2C30;2ODB;4KS7;4KS8;
name: Serine/threonine-protein kinase PAK 6 (EC 2.7.11.1) (PAK-5) (p21-activated kinase 6) (PAK-6)
length: 681
go: ENSG00000137843;ENSG00000259288;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cytoskeleton organization [GO:0007010]; regulation of MAPK cascade [GO:0043408]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

snps:
rs201346085 rs2412504 rs36081263 rs35593179 rs56349744 rs55920845 rs35501648 rs34869667 rs3743135 rs3743137 rs55806501 rs34445577 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQU5-1; Sequence=Displayed; Name=2; IsoId=Q9NQU5-2; Sequence=VSP_056733; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cotranslocates into nucleus with AR in response to androgen induction.


uniprotID: P01298
geneSymbol: PPY
reactome: R-HSA-375276;R-HSA-418594;
pdb: 1TZ4;1TZ5;
sequence: MAAARLCLSLLLLSTCVALLLQPLLGAQGAPLEPVYPGDNATPEQMAQYAADLRRYINMLTRPRYGKRHKEDTLAFSEWGSPHAAVPRELSPLDL
length: 95
go: ENSG00000108849;
snps: rs7215698
location: SUBCELLULAR LOCATION: Secreted.
name:
Pancreatic prohormone (Pancreatic polypeptide) (PP) (Obinepitide) [Cleaved into: Pancreatic hormone (PH); Pancreatic icosapeptide (PI)]

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; neuropeptide hormone activity [GO:0005184]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; protein secretion [GO:0009306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P01298-1; Sequence=Displayed; Name=2; IsoId=P01298-2; Sequence=VSP_057852; Note=No experimental confirmation available. Derived from EST data. {ECO:0000305}; 


uniprotID: Q9BSG0
geneSymbol: PRADC1
length: 188
go: ENSG00000135617;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15498570}.
name:
Protease-associated domain-containing protein 1 (Protease-associated domain-containing protein of 21 kDa) (hPAP21)

sequence:
MVPGAAGWCCLVLWLPACVAAHGFRIHDYLYFQVLSPGDIRYIFTATPAKDFGGIFHTRYEQIHLVPAEPPEACGELSNGFFIQDQIALVERGGCSFLSKTRVVQEHGGRAVIISDNAVDNDSFYVEMIQDSTQRTADIPALFLLGRDGYMIRRSLEQHGLPWAIISIPVNVTSIPTFELLQPPWTFW


uniprotID: Q9ULC6
geneSymbol: PADI1
reactome: R-HSA-3247509;
pdb: 5HP5;
length: 663
go: ENSG00000142623;
drug: DB00155;
snps: rs16824215
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12416996}.
name:
Protein-arginine deiminase type-1 (EC 3.5.3.15) (Peptidylarginine deiminase I) (Protein-arginine deiminase type I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; protein-arginine deiminase activity [GO:0004668]; histone citrullination [GO:0036414]; protein citrullination [GO:0018101]


uniprotID: Q99487
geneSymbol: PAFAH2
reactome: R-HSA-418346;
length: 392
go: ENSG00000158006;
name:
Platelet-activating factor acetylhydrolase 2, cytoplasmic (EC 3.1.1.47) (Serine-dependent phospholipase A2) (SD-PLA2) (hSD-PLA2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; 1-alkyl-2-acetylglycerophosphocholine esterase activity [GO:0003847]; phospholipid binding [GO:0005543]; blood coagulation [GO:0007596]; lipid catabolic process [GO:0016042]; lipid metabolic process [GO:0006629]; negative regulation of apoptotic process [GO:0043066]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9494101}. Membrane {ECO:0000250|UniProtKB:P79106}; Lipid-anchor {ECO:0000250|UniProtKB:P79106}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P79106}; Lipid-anchor {ECO:0000250|UniProtKB:P79106}. Note=In resting cells, localizes to intracellular membranes and cytoplasm. Translocates from the cytoplasm to intracellular membranes upon oxidative stress. {ECO:0000250|UniProtKB:P79106}.


uniprotID: Q6UXH9
geneSymbol: PAMR1
length: 720
go: ENSG00000149090;
opentargets: extracellular region [GO:0005576]; calcium ion binding [GO:0005509]
snps: rs16927482
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Inactive serine protease PAMR1 (Peptidase domain-containing protein associated with muscle regeneration 1) (Regeneration-associated muscle protease homolog)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXH9-1; Sequence=Displayed; Name=2; IsoId=Q6UXH9-2; Sequence=VSP_025568; Name=3; IsoId=Q6UXH9-3; Sequence=VSP_055371; Note=No experimental confirmation available.; 


uniprotID: Q58A45
geneSymbol: PAN3
reactome: R-HSA-429947;
length: 887
go: ENSG00000152520;
name:
PAN2-PAN3 deadenylation complex subunit PAN3 (PAB1P-dependent poly(A)-specific ribonuclease) (Poly(A)-nuclease deadenylation complex subunit 3) (PAN deadenylation complex subunit 3)

sequence:

opentargets:
cytosol [GO:0005829]; P-body [GO:0000932]; PAN complex [GO:0031251]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; RNA binding [GO:0003723]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; mRNA processing [GO:0006397]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of cytoplasmic mRNA processing body assembly [GO:0010606]; protein targeting [GO:0006605]; RNA phosphodiester bond hydrolysis, exonucleolytic [GO:0090503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Pan3b; IsoId=Q58A45-1; Sequence=Displayed; Name=2; IsoId=Q58A45-2; Sequence=VSP_023753, VSP_023755; Name=3; IsoId=Q58A45-3; Sequence=VSP_023754; Name=4; IsoId=Q58A45-4; Sequence=VSP_041648, VSP_041649; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000255|HAMAP-Rule:MF_03181, ECO:0000269|PubMed:14583602, ECO:0000269|PubMed:18625844}.


uniprotID: Q13153
geneSymbol: PAK1
length: 545
go: ENSG00000149269;
snps: rs35345144
reactome:
R-HSA-202433;R-HSA-2029482;R-HSA-2871796;R-HSA-376172;R-HSA-389359;R-HSA-3928662;R-HSA-3928664;R-HSA-399954;R-HSA-428540;R-HSA-445144;R-HSA-445355;R-HSA-5218920;R-HSA-5621575;R-HSA-5625740;R-HSA-5627117;R-HSA-5627123;R-HSA-5687128;

pdb:
1F3M;1YHV;1YHW;1ZSG;2HY8;2QME;3DVP;3FXZ;3FY0;3Q4Z;3Q52;3Q53;4DAW;4EQC;4O0R;4O0T;4P90;4ZJI;4ZJJ;4ZLO;4ZY4;4ZY5;4ZY6;5DEW;5DEY;5DFP;5IME;5KBQ;5KBR;6B16;

name:
Serine/threonine-protein kinase PAK 1 (EC 2.7.11.1) (Alpha-PAK) (p21-activated kinase 1) (PAK-1) (p65-PAK)

sequence:

opentargets:
actin filament [GO:0005884]; axon [GO:0030424]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; focal adhesion [GO:0005925]; intercalated disc [GO:0014704]; invadopodium [GO:0071437]; lamellipodium [GO:0030027]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; Z disc [GO:0030018]; ATP binding [GO:0005524]; collagen binding [GO:0005518]; identical protein binding [GO:0042802]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; actin cytoskeleton reorganization [GO:0031532]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; branching morphogenesis of an epithelial tube [GO:0048754]; cellular response to insulin stimulus [GO:0032869]; cerebellum development [GO:0021549]; ephrin receptor signaling pathway [GO:0048013]; establishment of cell polarity [GO:0030010]; exocytosis [GO:0006887]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; negative regulation of cell proliferation involved in contact inhibition [GO:0060244]; neuron projection morphogenesis [GO:0048812]; positive regulation of axon extension [GO:0045773]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of axonogenesis [GO:0050770]; regulation of MAPK cascade [GO:0043408]; response to hypoxia [GO:0001666]; signal transduction by protein phosphorylation [GO:0023014]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated protein kinase signaling cascade [GO:0031098]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13153-1; Sequence=Displayed; Name=2; Synonyms=PAK1B; IsoId=Q13153-2; Sequence=VSP_017507; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25766321}. Cell junction, focal adhesion {ECO:0000269|PubMed:25766321}. Cell membrane {ECO:0000269|PubMed:25766321}. Cell projection, ruffle membrane {ECO:0000269|PubMed:25766321}. Cell projection, invadopodium {ECO:0000269|PubMed:25766321}. Note=Colocalizes with RUFY3, F-actin and other core migration components in invadopodia at the cell periphery (PubMed:25766321). Recruited to the cell membrane by interaction with CDC42 and RAC1. Recruited to focal adhesions upon activation. Colocalized with CIB1 within membrane ruffles during cell spreading upon readhesion to fibronectin. {ECO:0000250|UniProtKB:P35465, ECO:0000269|PubMed:25766321}.


uniprotID: O96013
geneSymbol: PAK4
reactome: R-HSA-428540;
name: Serine/threonine-protein kinase PAK 4 (EC 2.7.11.1) (p21-activated kinase 4) (PAK-4)
length: 591
go: ENSG00000130669;
snps: rs56099436 rs35655056
pdb:
2BVA;2CDZ;2J0I;2OV2;2Q0N;2X4Z;4APP;4FIE;4FIF;4FIG;4FIH;4FII;4FIJ;4JDH;4JDI;4JDJ;4JDK;4L67;4NJD;4O0V;4O0X;4O0Y;4XBR;4XBU;5BMS;5I0B;5UPK;5UPL;5VED;5VEE;5VEF;5XVA;5XVF;5XVG;

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; ATP binding [GO:0005524]; cadherin binding involved in cell-cell adhesion [GO:0098641]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to organic cyclic compound [GO:0071407]; cytoskeleton organization [GO:0007010]; dendritic spine development [GO:0060996]; negative regulation of endothelial cell apoptotic process [GO:2000352]; positive regulation of angiogenesis [GO:0045766]; regulation of cell growth [GO:0001558]; regulation of MAPK cascade [GO:0043408]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O96013-1; Sequence=Displayed; Name=2; IsoId=O96013-2; Sequence=VSP_004892, VSP_004893; Note=No experimental confirmation available.; Name=3; IsoId=O96013-3; Sequence=VSP_017572; Name=4; IsoId=O96013-4; Sequence=VSP_017573; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12356872}. Note=Seems to shuttle between cytoplasmic compartments depending on the activating effector. For example, can be found on the cell periphery after activation of growth-factor or integrin-mediated signaling pathways. {ECO:0000269|PubMed:12356872}.


uniprotID: Q9H0K6
geneSymbol: PUS7L
name: Pseudouridylate synthase 7 homolog-like protein (EC 5.4.99.-)
length: 701
go: ENSG00000129317;
snps: rs33999797 rs1057190 rs34668377
sequence:

opentargets:
nucleus [GO:0005634]; pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; pseudouridine synthesis [GO:0001522]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0K6-1; Sequence=Displayed; Name=2; IsoId=Q9H0K6-2; Sequence=VSP_054568; Note=No experimental confirmation available.; 


uniprotID: Q96PZ0
geneSymbol: PUS7
reactome: R-HSA-6782315;
pdb: 5KKP;
name: Pseudouridylate synthase 7 homolog (EC 5.4.99.-)
length: 661
go: ENSG00000091127;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29628141}.
sequence:

opentargets:
nucleus [GO:0005634]; enzyme binding [GO:0019899]; pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; mRNA pseudouridine synthesis [GO:1990481]; negative regulation of translation [GO:0017148]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of mesoderm development [GO:2000380]; tRNA pseudouridine synthesis [GO:0031119]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PZ0-1; Sequence=Displayed; Name=2; IsoId=Q96PZ0-2; Sequence=VSP_059620; 


uniprotID: O14949
geneSymbol: UQCRQ
reactome: R-HSA-611105;
pdb: 5XTE;5XTH;5XTI;
sequence: MGREFGNLTRMRHVISYSLSPFEQRAYPHVFTKGIPNVLRRIRESFFRVVPQFVVFYLIYTWGTEEFERSKRKNPAAYENDK
length: 82
go: ENSG00000164405;
drug: DB08453;DB07778;DB07401;DB08330;DB08690;
snps: rs11544803
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome b-c1 complex subunit 8 (Complex III subunit 8) (Complex III subunit VIII) (Ubiquinol-cytochrome c reductase complex 9.5 kDa protein) (Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C)

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; ubiquinol-cytochrome-c reductase activity [GO:0008121]; cerebellar Purkinje cell layer development [GO:0021680]; hippocampus development [GO:0021766]; hypothalamus development [GO:0021854]; midbrain development [GO:0030901]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; pons development [GO:0021548]; pyramidal neuron development [GO:0021860]; subthalamus development [GO:0021539]; thalamus development [GO:0021794]


uniprotID: O95755
geneSymbol: RAB36
reactome: R-HSA-6811438;R-HSA-8873719;
name: Ras-related protein Rab-36
length: 333
go: ENSG00000100228;
snps: rs9624036 rs5759612 rs9624038
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Lipid-anchor.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; intracellular protein transport [GO:0006886]; Rab protein signal transduction [GO:0032482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95755-1; Sequence=Displayed; Name=2; IsoId=O95755-2; Sequence=VSP_010143; Note=No experimental confirmation available.; 


