# annotation

uniprotID: Q6IQ23
geneSymbol: PLEKHA7
name: Pleckstrin homology domain-containing family A member 7 (PH domain-containing family A member 7)
length: 1121
go: ENSG00000166689;
snps: rs35908144 rs16933529 rs369819 rs61133161 rs34556458
sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; zonula adherens [GO:0005915]; delta-catenin binding [GO:0070097]; cell-cell adhesion mediated by cadherin [GO:0044331]; epithelial cell-cell adhesion [GO:0090136]; zonula adherens maintenance [GO:0045218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6IQ23-1; Sequence=Displayed; Name=2; IsoId=Q6IQ23-2; Sequence=VSP_025592; Name=3; IsoId=Q6IQ23-3; Sequence=VSP_039543, VSP_025592; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:19041755}. Cytoplasm {ECO:0000269|PubMed:19041755}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19041755}. Note=Localizes to zonula adherens, recruited via its interaction with CTNND1.


uniprotID: Q86WI1
geneSymbol: PKHD1L1
name: Fibrocystin-L (Polycystic kidney and hepatic disease 1-like protein 1) (PKHD1-like protein 1)
length: 4243
go: ENSG00000205038;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cilium [GO:0005929]; cytosol [GO:0005829]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; signaling receptor activity [GO:0038023]; immune response [GO:0006955]

snps:
rs16879428 rs964307 rs4735133 rs16879534 rs35375999 rs10093885 rs1673408 rs7820062 rs1673407 rs1783147 rs10441509 rs16879659 rs9774677 rs16879693 rs1783174 


uniprotID: Q13563
geneSymbol: PKD2
reactome: R-HSA-5620916;
pdb: 2KLD;2KLE;2KQ6;2Y4Q;3HRN;3HRO;5K47;5MKE;5MKF;5T4D;6A70;6D1W;
length: 968
go: ENSG00000118762;
name:
Polycystin-2 (PC2) (Autosomal dominant polycystic kidney disease type II protein) (Polycystic kidney disease 2 protein) (Polycystwin) (R48321) (Transient receptor potential cation channel subfamily P member 2)

sequence:

opentargets:
basal cortex [GO:0045180]; basal plasma membrane [GO:0009925]; cell-cell junction [GO:0005911]; ciliary basal body [GO:0036064]; ciliary membrane [GO:0060170]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of cytoplasmic side of endoplasmic reticulum membrane [GO:0071458]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; lamellipodium [GO:0030027]; membrane [GO:0016020]; mitotic spindle [GO:0072686]; motile cilium [GO:0031514]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; polycystin complex [GO:0002133]; actinin binding [GO:0042805]; ATPase binding [GO:0051117]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-induced calcium release activity [GO:0048763]; cytoskeletal protein binding [GO:0008092]; HLH domain binding [GO:0043398]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; muscle alpha-actinin binding [GO:0051371]; outward rectifier potassium channel activity [GO:0015271]; phosphoprotein binding [GO:0051219]; potassium channel activity [GO:0005267]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; voltage-gated calcium channel activity [GO:0005245]; voltage-gated cation channel activity [GO:0022843]; voltage-gated ion channel activity [GO:0005244]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated sodium channel activity [GO:0005248]; aorta development [GO:0035904]; branching involved in ureteric bud morphogenesis [GO:0001658]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; cell cycle arrest [GO:0007050]; cellular response to calcium ion [GO:0071277]; cellular response to cAMP [GO:0071320]; cellular response to fluid shear stress [GO:0071498]; cellular response to hydrostatic pressure [GO:0071464]; cellular response to osmotic stress [GO:0071470]; cellular response to reactive oxygen species [GO:0034614]; centrosome duplication [GO:0051298]; cytoplasmic sequestering of transcription factor [GO:0042994]; detection of mechanical stimulus [GO:0050982]; detection of nodal flow [GO:0003127]; determination of left/right symmetry [GO:0007368]; determination of liver left/right asymmetry [GO:0071910]; embryonic placenta development [GO:0001892]; heart development [GO:0007507]; heart looping [GO:0001947]; JAK-STAT cascade [GO:0007259]; liver development [GO:0001889]; mesonephric duct development [GO:0072177]; mesonephric tubule development [GO:0072164]; metanephric ascending thin limb development [GO:0072218]; metanephric cortex development [GO:0072214]; metanephric cortical collecting duct development [GO:0072219]; metanephric distal tubule development [GO:0072235]; metanephric mesenchyme development [GO:0072075]; metanephric part of ureteric bud development [GO:0035502]; metanephric S-shaped body morphogenesis [GO:0072284]; metanephric smooth muscle tissue development [GO:0072208]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; neural tube development [GO:0021915]; placenta blood vessel development [GO:0060674]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0031587]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of transcription by RNA polymerase II [GO:0045944]; potassium ion transmembrane transport [GO:0071805]; protein homotetramerization [GO:0051289]; regulation of calcium ion import [GO:0090279]; regulation of cell proliferation [GO:0042127]; release of sequestered calcium ion into cytosol [GO:0051209]; renal artery morphogenesis [GO:0061441]; renal tubule morphogenesis [GO:0061333]; sodium ion transmembrane transport [GO:0035725]; spinal cord development [GO:0021510]

snps:
rs1004860210 rs1805044 rs117078377 rs990932947 rs145877597 rs1801612 rs75762896 rs121918043 rs2234917 rs147654263 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q13563-1; Sequence=Displayed; Name=2; Synonyms=delta6; IsoId=Q13563-2; Sequence=VSP_042479, VSP_042480; Name=3; Synonyms=delta7; IsoId=Q13563-3; Sequence=VSP_042481; Name=4; Synonyms=delta9; IsoId=Q13563-4; Sequence=VSP_042482, VSP_042483; Name=5; Synonyms=delta12/13; IsoId=Q13563-5; Sequence=VSP_042484; Note=Minor isoform.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000269|PubMed:18695040, ECO:0000269|PubMed:20881056, ECO:0000269|PubMed:27259053}; Multi-pass membrane protein {ECO:0000269|PubMed:27768895, ECO:0000269|PubMed:27991905, ECO:0000269|PubMed:28092368}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10760273, ECO:0000269|PubMed:11854751, ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:20881056, ECO:0000269|PubMed:28092368, ECO:0000305|PubMed:10913159}; Multi-pass membrane protein {ECO:0000269|PubMed:27768895, ECO:0000269|PubMed:27991905, ECO:0000269|PubMed:28092368}. Cell membrane {ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:19556541, ECO:0000269|PubMed:26269590, ECO:0000269|PubMed:27071085, ECO:0000269|PubMed:27259053, ECO:0000269|PubMed:28092368}; Multi-pass membrane protein {ECO:0000269|PubMed:27768895, ECO:0000269|PubMed:27991905, ECO:0000269|PubMed:28092368}. Basolateral cell membrane {ECO:0000269|PubMed:10770959}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10770959}. Note=Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563). Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959). Cell surface and cilium localization requires GANAB (PubMed:27259053). {ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:27259053}.


uniprotID: Q6P5Z2
geneSymbol: PKN3
reactome: R-HSA-5625740;
length: 889
go: ENSG00000160447;
snps: rs56251280 rs12932
name:
Serine/threonine-protein kinase N3 (EC 2.7.11.13) (Protein kinase PKN-beta) (Protein-kinase C-related kinase 3)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; GTP-Rho binding [GO:0017049]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; epithelial cell migration [GO:0010631]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10441506}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:10441506}. Note=Nuclear and perinuclear Golgi region.


uniprotID: Q9H7P9
geneSymbol: PLEKHG2
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Pleckstrin homology domain-containing family G member 2 (PH domain-containing family G member 2)
length: 1386
go: ENSG00000090924;
snps: rs201201843 rs35904695 rs16973407 rs10407035 rs31726 rs34603507 rs31728
sequence:

opentargets:
cytosol [GO:0005829]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of actin filament polymerization [GO:0030833]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H7P9-1; Sequence=Displayed; Name=2; IsoId=Q9H7P9-2; Sequence=VSP_028530; Note=No experimental confirmation available.; Name=3; IsoId=Q9H7P9-3; Sequence=VSP_028529; Note=No experimental confirmation available.; 


uniprotID: Q16512
geneSymbol: PKN1
reactome: R-HSA-5625740;R-HSA-5625886;
pdb: 1CXZ;1URF;2RMK;4NKG;4OTD;4OTG;4OTH;4OTI;
length: 942
go: ENSG00000123143;
snps: rs267605306 rs35132656 rs56273055 rs34309238 rs35416389 rs2230539 rs10846
name:
Serine/threonine-protein kinase N1 (EC 2.7.11.13) (Protease-activated kinase 1) (PAK-1) (Protein kinase C-like 1) (Protein kinase C-like PKN) (Protein kinase PKN-alpha) (Protein-kinase C-related kinase 1) (Serine-threonine protein kinase N)

sequence:

opentargets:
cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; androgen receptor binding [GO:0050681]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; GTP-Rho binding [GO:0017049]; histone binding [GO:0042393]; histone deacetylase binding [GO:0042826]; histone kinase activity (H3-T11 specific) [GO:0035402]; nuclear receptor transcription coactivator activity [GO:0030374]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein kinase C binding [GO:0005080]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; activation of JUN kinase activity [GO:0007257]; B cell apoptotic process [GO:0001783]; B cell homeostasis [GO:0001782]; epithelial cell migration [GO:0010631]; histone H3-T11 phosphorylation [GO:0035407]; hyperosmotic response [GO:0006972]; intracellular signal transduction [GO:0035556]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of protein kinase activity [GO:0006469]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of cell motility [GO:2000145]; regulation of germinal center formation [GO:0002634]; regulation of immunoglobulin production [GO:0002637]; regulation of transcription by RNA polymerase II [GO:0006357]; renal system process [GO:0003014]; signal transduction [GO:0007165]; spleen development [GO:0048536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16512-1; Sequence=Displayed; Name=2; IsoId=Q16512-2; Sequence=VSP_038143; Note=No experimental confirmation available.; Name=3; IsoId=Q16512-3; Sequence=VSP_039213, VSP_039214; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17332740, ECO:0000269|PubMed:9478917}. Nucleus {ECO:0000269|PubMed:12514133}. Endosome {ECO:0000269|PubMed:9478917}. Cell membrane {ECO:0000250|UniProtKB:Q63433}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q63433}. Cleavage furrow {ECO:0000269|PubMed:17332740}. Midbody {ECO:0000269|PubMed:17332740}. Note=Associates with chromatin in a ligand-dependent manner. Localization to endosomes is mediated via its interaction with RHOB. Association to the cell membrane is dependent on Ser-377 phosphorylation. Accumulates during telophase at the cleavage furrow and finally concentrates around the midbody in cytokinesis. {ECO:0000250|UniProtKB:Q63433, ECO:0000269|PubMed:17332740}.


uniprotID: O14939
geneSymbol: PLD2
reactome: R-HSA-1483148;R-HSA-1483166;R-HSA-2029485;
length: 933
go: ENSG00000129219;
drug: DB00122;
snps: rs2286672 rs1052748 rs17854914 rs11545163 rs3764897 rs3764897
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
name:
Phospholipase D2 (PLD 2) (hPLD2) (EC 3.1.4.4) (Choline phosphatase 2) (PLD1C) (Phosphatidylcholine-hydrolyzing phospholipase D2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; N-acylphosphatidylethanolamine-specific phospholipase D activity [GO:0070290]; phosphatidylinositol binding [GO:0035091]; phospholipase D activity [GO:0004630]; cell motility [GO:0048870]; cytoskeleton organization [GO:0007010]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; inositol lipid-mediated signaling [GO:0048017]; lipid catabolic process [GO:0016042]; phosphatidic acid biosynthetic process [GO:0006654]; small GTPase mediated signal transduction [GO:0007264]; synaptic vesicle recycling [GO:0036465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=PLD2A; IsoId=O14939-1; Sequence=Displayed; Name=PLD2C; IsoId=O14939-3; Sequence=VSP_005027; Name=PLD2B; IsoId=O14939-4; Sequence=VSP_054769; 


uniprotID: Q99943
geneSymbol: AGPAT1
reactome: R-HSA-1483166;R-HSA-163765;
length: 283
go: ENSG00000204310;
snps: rs11964847
name:
1-acyl-sn-glycerol-3-phosphate acyltransferase alpha (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 1) (1-AGP acyltransferase 1) (1-AGPAT 1) (Lysophosphatidic acid acyltransferase alpha) (LPAAT-alpha) (Protein G15)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; CDP-diacylglycerol biosynthetic process [GO:0016024]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid metabolic process [GO:0006644]; positive regulation of cellular metabolic process [GO:0031325]; positive regulation of cytokine production [GO:0001819]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21873652}; Multi-pass membrane protein {ECO:0000269|PubMed:21873652}.


uniprotID: Q9NUQ2
geneSymbol: AGPAT5
reactome: R-HSA-1483166;
length: 364
go: ENSG00000155189;
snps: rs17077958
name:
1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 5) (1-AGP acyltransferase 5) (1-AGPAT 5) (Lysophosphatidic acid acyltransferase epsilon) (LPAAT-epsilon)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; transferase activity, transferring acyl groups [GO:0016746]; acylglycerol metabolic process [GO:0006639]; CDP-diacylglycerol biosynthetic process [GO:0016024]; hematopoietic progenitor cell differentiation [GO:0002244]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid biosynthetic process [GO:0008654]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21173190}; Multi-pass membrane protein {ECO:0000269|PubMed:21173190}. Nucleus envelope {ECO:0000269|PubMed:21173190}. Mitochondrion {ECO:0000269|PubMed:21173190}.


uniprotID: Q9Y3B1
geneSymbol: PRELID3B
name: PRELI domain containing protein 3B (Protein slowmo homolog 2)
length: 194
go: ENSG00000101166;
sequence:
MKIWTSEHVFDHPWETVTTAAMQKYPNPMNPSVVGVDVLDRHIDPSGKLHSHRLLSTEWGLPSIVKSLIGAARTKTYVQEHSVVDPVEKTMELKSTNISFTNMVSVDERLIYKPHPQDPEKTVLTQEAIITVKGVSLSSYLEGLMASTISSNASKGREAMEWVIHKLNAEIEELTASARGTIRTPMAAAAFAEK

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y3B1-1; Sequence=Displayed; Name=2; IsoId=Q9Y3B1-2; Sequence=VSP_044840; Note=No experimental confirmation available.; 


uniprotID: Q8NHP8
geneSymbol: PLBD2
length: 589
go: ENSG00000151176;
snps: rs7965471 rs12425042
location: SUBCELLULAR LOCATION: Lysosome lumen {ECO:0000269|PubMed:17105447}.
name:
Putative phospholipase B-like 2 (EC 3.1.1.-) (76 kDa protein) (p76) (LAMA-like protein 2) (Lamina ancestor homolog 2) (Phospholipase B domain-containing protein 2) [Cleaved into: Putative phospholipase B-like 2 32 kDa form; Putative phospholipase B-like 2 45 kDa form]

sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; hydrolase activity [GO:0016787]; lipid catabolic process [GO:0016042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHP8-1; Sequence=Displayed; Name=2; IsoId=Q8NHP8-2; Sequence=VSP_055623; Note=No experimental confirmation available.; 


uniprotID: Q8N2A8
geneSymbol: PLD6
reactome: R-HSA-1483148;R-HSA-1483166;R-HSA-5601884;
length: 252
go: ENSG00000179598;
snps: rs17856924 rs11551966
name:
Mitochondrial cardiolipin hydrolase (EC 3.1.-.-) (Choline phosphatase 6) (Mitochondrial phospholipase) (MitoPLD) (Phosphatidylcholine-hydrolyzing phospholipase D6) (Phospholipase D6) (PLD 6) (Protein zucchini homolog)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; cardiolipin hydrolase activity [GO:0035755]; endonuclease activity [GO:0004519]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; DNA methylation involved in gamete generation [GO:0043046]; lipid catabolic process [GO:0016042]; meiotic cell cycle [GO:0051321]; mitochondrial fusion [GO:0008053]; P granule organization [GO:0030719]; phosphatidic acid biosynthetic process [GO:0006654]; piRNA metabolic process [GO:0034587]; positive regulation of mitochondrial fusion [GO:0010636]; spermatid development [GO:0007286]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:17028579}; Single-pass membrane protein {ECO:0000269|PubMed:17028579}.


uniprotID: O75038
geneSymbol: PLCH2
reactome: R-HSA-1855204;
length: 1416
go: ENSG00000149527;
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 (EC 3.1.4.11) (Phosphoinositide phospholipase C-eta-2) (Phosphoinositide phospholipase C-like 4) (PLC-L4) (Phospholipase C-like protein 4) (Phospholipase C-eta-2) (PLC-eta2)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; phosphatidylinositol phospholipase C activity [GO:0004435]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; phosphatidylinositol metabolic process [GO:0046488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O75038-1; Sequence=Displayed; Name=2; IsoId=O75038-2; Sequence=VSP_029068, VSP_029072, VSP_029073; Name=3; IsoId=O75038-3; Sequence=VSP_029070; Note=No experimental confirmation available.; Name=4; IsoId=O75038-4; Sequence=VSP_029071, VSP_029074; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=O75038-5; Sequence=VSP_029067, VSP_029069, VSP_029071, VSP_029074; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=Localized predominantly at the plasma membrane. {ECO:0000250}.


uniprotID: Q9NUJ7
geneSymbol: PLCXD1
name: PI-PLC X domain-containing protein 1
length: 323
go: ENSG00000182378;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22732399}.
sequence:

opentargets:
cytoplasm [GO:0005737]; phosphoric diester hydrolase activity [GO:0008081]; lipid metabolic process [GO:0006629]


uniprotID: Q0VAA5
geneSymbol: PLCXD2
name: PI-PLC X domain-containing protein 2
length: 305
go: ENSG00000240891;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22732399}.
sequence:

opentargets:
nucleus [GO:0005634]; phosphoric diester hydrolase activity [GO:0008081]; lipid catabolic process [GO:0016042]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VAA5-1; Sequence=Displayed; Name=2; IsoId=Q0VAA5-2; Sequence=VSP_028349; Note=No experimental confirmation available.; 


uniprotID: Q8TBJ4
geneSymbol: PLPPR1
reactome: R-HSA-419408;
length: 325
go: ENSG00000148123;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase-related protein type 1 (Lipid phosphate phosphatase-related protein type 1) (Plasticity-related gene 3 protein) (PRG-3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; nervous system development [GO:0007399]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]


uniprotID: Q96GM1
geneSymbol: PLPPR2
reactome: R-HSA-419408;
length: 343
go: ENSG00000105520;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase-related protein type 2 (EC 3.1.3.4) (Lipid phosphate phosphatase-related protein type 2) (Plasticity-related gene 4 protein) (PRG-4)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96GM1-1; Sequence=Displayed; Name=2; IsoId=Q96GM1-2; Sequence=VSP_031010, VSP_031011; 


uniprotID: Q6T4P5
geneSymbol: PLPPR3
reactome: R-HSA-419408;
length: 718
go: ENSG00000129951;
snps: rs1540615 rs3746136
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase-related protein type 3 (EC 3.1.3.4) (Lipid phosphate phosphatase-related protein type 3) (PAP-2-like protein 2) (Plasticity-related gene 2 protein) (PRG-2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=PRG-2a; IsoId=Q6T4P5-1; Sequence=Displayed; Name=2; IsoId=Q6T4P5-2; Sequence=VSP_031005; Name=3; Synonyms=PRG-2b; IsoId=Q6T4P5-3; Sequence=VSP_031006; Name=4; IsoId=Q6T4P5-4; Sequence=VSP_031004; 


uniprotID: Q7Z2D5
geneSymbol: PLPPR4
reactome: R-HSA-419408;
length: 763
go: ENSG00000117600;
snps: rs712896 rs35285687
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase-related protein type 4 (EC 3.1.3.4) (Brain-specific phosphatidic acid phosphatase-like protein 1) (Lipid phosphate phosphatase-related protein type 4) (Plasticity-related gene 1 protein) (PRG-1)

sequence:

opentargets:
glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; axonogenesis [GO:0007409]; inner ear development [GO:0048839]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z2D5-1; Sequence=Displayed; Name=2; IsoId=Q7Z2D5-2; Sequence=VSP_030950, VSP_030951; Name=3; IsoId=Q7Z2D5-3; Sequence=VSP_046784; Note=No experimental confirmation available.; 


uniprotID: O60568
geneSymbol: PLOD3
reactome: R-HSA-1650814;
pdb: 6FXK;6FXM;6FXR;6FXT;6FXX;6FXY;
length: 738
go: ENSG00000106397;
drug: DB00139;DB00126;
snps: rs35627324 rs121434414 rs1134907
name:
Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 [Includes: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 (EC 1.14.11.4) (Lysyl hydroxylase 3) (LH3); Procollagen glycosyltransferase (EC 2.4.1.50) (EC 2.4.1.66) (Galactosylhydroxylysine-glucosyltransferase) (Procollagen galactosyltransferase) (Procollagen glucosyltransferase)]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; rough endoplasmic reticulum membrane [GO:0030867]; trans-Golgi network [GO:0005802]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; procollagen galactosyltransferase activity [GO:0050211]; procollagen glucosyltransferase activity [GO:0033823]; procollagen-lysine 5-dioxygenase activity [GO:0008475]; basement membrane assembly [GO:0070831]; cellular response to hormone stimulus [GO:0032870]; collagen fibril organization [GO:0030199]; collagen metabolic process [GO:0032963]; endothelial cell morphogenesis [GO:0001886]; epidermis morphogenesis [GO:0048730]; hydroxylysine biosynthetic process [GO:0046947]; in utero embryonic development [GO:0001701]; lung morphogenesis [GO:0060425]; neural tube development [GO:0021915]; peptidyl-lysine hydroxylation [GO:0017185]; protein localization [GO:0008104]; protein O-linked glycosylation [GO:0006493]; vasodilation [GO:0042311]

location:
SUBCELLULAR LOCATION: Rough endoplasmic reticulum {ECO:0000269|PubMed:10934207}. Endoplasmic reticulum lumen {ECO:0000269|PubMed:20470363}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9R0E1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9R0E1}; Lumenal side {ECO:0000250|UniProtKB:Q9R0E1}. Secreted {ECO:0000269|PubMed:21465473}. Secreted, extracellular space {ECO:0000250|UniProtKB:Q9R0E1}. Note=The majority of the secreted protein is associated with the extracellular matrix. {ECO:0000250|UniProtKB:Q9R0E1}.


uniprotID: O43660
geneSymbol: PLRG1
reactome: R-HSA-72163;
pdb: 4YVD;5MQF;5XJC;5YZG;5Z56;5Z57;5Z58;6FF4;
name: Pleiotropic regulator 1
length: 514
go: ENSG00000171566;
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; fibrillar center [GO:0001650]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Prp19 complex [GO:0000974]; U2-type catalytic step 2 spliceosome [GO:0071007]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; protein localization to nucleus [GO:0034504]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43660-1; Sequence=Displayed; Name=2; IsoId=O43660-2; Sequence=VSP_008804; Note=May be due to a competing donor splice site. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11101529, ECO:0000269|PubMed:20176811, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}. Nucleus speckle {ECO:0000269|PubMed:11544257}.


uniprotID: P41247
geneSymbol: PNPLA4
reactome: R-HSA-163560;
name: Patatin-like phospholipase domain-containing protein 4 (EC 3.1.1.3) (Protein GS2)
length: 253
go: ENSG00000006757;
snps: rs17856615 rs2231791 rs17851825 rs2231793
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:26741492}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; retinyl-palmitate esterase activity [GO:0050253]; triglyceride lipase activity [GO:0004806]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41247-1; Sequence=Displayed; Name=2; IsoId=P41247-2; Sequence=VSP_043089; Note=No experimental confirmation available.; 


uniprotID: Q14651
geneSymbol: PLS1
name: Plastin-1 (Intestine-specific plastin) (I-plastin)
length: 629
go: ENSG00000120756;
snps: rs35710125 rs35435507
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
actin filament [GO:0005884]; actin filament bundle [GO:0032432]; brush border [GO:0005903]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; terminal web [GO:1990357]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; structural constituent of cytoskeleton [GO:0005200]; actin filament bundle assembly [GO:0051017]; actin filament network formation [GO:0051639]; intestinal D-glucose absorption [GO:0001951]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulation of microvillus length [GO:0032532]; terminal web assembly [GO:1902896]


uniprotID: Q8IY17
geneSymbol: PNPLA6
reactome: R-HSA-6814848;
name: Neuropathy target esterase (EC 3.1.1.5) (Patatin-like phospholipase domain-containing protein 6)
length: 1375
go: ENSG00000032444;
snps: rs17854645 rs17854647
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; lysophospholipase activity [GO:0004622]; glycerophospholipid catabolic process [GO:0046475]; phosphatidylcholine metabolic process [GO:0046470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q8IY17-4; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IY17-2; Sequence=VSP_059668; Name=3; IsoId=Q8IY17-3; Sequence=VSP_059670; Note=No experimental confirmation available.; Name=5; IsoId=Q8IY17-5; Sequence=VSP_059668, VSP_059669, VSP_059670; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15044461}; Single-pass type I membrane protein {ECO:0000269|PubMed:15044461}; Cytoplasmic side {ECO:0000269|PubMed:15044461}. Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its N-terminal transmembrane segment. {ECO:0000269|PubMed:15044461}.


uniprotID: Q7Z7B1
geneSymbol: PIGW
reactome: R-HSA-162710;
name: Phosphatidylinositol-glycan biosynthesis class W protein (PIG-W) (EC 2.3.-.-)
length: 504
go: ENSG00000277161;
snps: rs587777733 rs200024253
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; glucosaminyl-phosphotidylinositol O-acyltransferase activity [GO:0032216]; O-acyltransferase activity [GO:0008374]; GPI anchor biosynthetic process [GO:0006506]; GPI anchor metabolic process [GO:0006505]; preassembly of GPI anchor in ER membrane [GO:0016254]; protein localization to plasma membrane [GO:0072659]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q7TSN4}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7TSN4}.


uniprotID: Q92521
geneSymbol: PIGB
reactome: R-HSA-162710;
length: 554
go: ENSG00000069943;
snps: rs17851556 rs2290344 rs678892 rs17851554 rs652397 rs2444042
name:
GPI mannosyltransferase 3 (EC 2.4.1.-) (GPI mannosyltransferase III) (GPI-MT-III) (Phosphatidylinositol-glycan biosynthesis class B protein) (PIG-B)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; glycolipid mannosyltransferase activity [GO:0004376]; mannosyltransferase activity [GO:0000030]; GPI anchor biosynthetic process [GO:0006506]; mannosylation [GO:0097502]; preassembly of GPI anchor in ER membrane [GO:0016254]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8861954}; Multi-pass membrane protein {ECO:0000269|PubMed:8861954}.


uniprotID: Q3MUY2
geneSymbol: PIGY
reactome: R-HSA-162710;
sequence: MFLSLPTLTVLIPLVSLAGLFYSASVEENFPQGCTSTASLCFYSLLLPITIPVYVFFHLWTWMGIKLFRHN
length: 71
go: ENSG00000255072;
snps: rs869025322
name:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y (Phosphatidylinositol-glycan biosynthesis class Y protein) (PIG-Y)

opentargets:
endoplasmic reticulum membrane [GO:0005789]; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex [GO:0000506]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; GPI anchor biosynthetic process [GO:0006506]; preassembly of GPI anchor in ER membrane [GO:0016254]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16162815}; Multi-pass membrane protein {ECO:0000269|PubMed:16162815}.


uniprotID: O95427
geneSymbol: PIGN
reactome: R-HSA-162710;
length: 931
go: ENSG00000197563;
snps: rs17069506 rs9320001 rs3862712 rs3862712 rs397514475 rs34231046 rs34231046
name:
GPI ethanolamine phosphate transferase 1 (EC 2.-.-.-) (MCD4 homolog) (Phosphatidylinositol-glycan biosynthesis class N protein) (PIG-N)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; mannose-ethanolamine phosphotransferase activity [GO:0051377]; GPI anchor biosynthetic process [GO:0006506]; preassembly of GPI anchor in ER membrane [GO:0016254]


uniprotID: Q9NWS0
geneSymbol: PIH1D1
pdb: 4PSF;4PSI;6GXZ;
name: PIH1 domain-containing protein 1 (Nucleolar protein 17 homolog)
length: 290
go: ENSG00000104872;
snps: rs2293012 rs2293013 rs13394 rs34198213 rs7462
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; pre-snoRNP complex [GO:0070761]; R2TP complex [GO:0097255]; ATPase binding [GO:0051117]; histone binding [GO:0042393]; phosphoprotein binding [GO:0051219]; protein kinase binding [GO:0019901]; RNA polymerase I CORE element sequence-specific DNA binding [GO:0001164]; box C/D snoRNP assembly [GO:0000492]; chromatin remodeling [GO:0006338]; epithelial cell differentiation [GO:0030855]; establishment of protein localization to chromatin [GO:0071169]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001268]; negative regulation of histone H3-K9 dimethylation [GO:1900110]; negative regulation of histone H3-K9 trimethylation [GO:1900113]; negative regulation of histone H4-K16 acetylation [GO:2000619]; positive regulation of glucose mediated signaling pathway [GO:1902661]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of histone H4 acetylation [GO:0090240]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of TORC1 signaling [GO:1904263]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; regulation of histone H3-K4 methylation [GO:0051569]; rRNA processing [GO:0006364]; snoRNA localization [GO:0048254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NWS0-1; Sequence=Displayed; Name=2; IsoId=Q9NWS0-2; Sequence=VSP_044424; Name=3; IsoId=Q9NWS0-3; Sequence=VSP_044425; 


uniprotID: Q9UKJ0
geneSymbol: PILRB
reactome: R-HSA-198933;
pdb: 4NFC;4NFD;
length: 227
go: ENSG00000121716;
snps: rs11771799 rs11761306
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Paired immunoglobulin-like type 2 receptor beta (Activating receptor PILR-beta) (Cell surface receptor FDFACT)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; MHC class I protein binding [GO:0042288]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; regulation of immune response [GO:0050776]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UKJ0-1; Sequence=Displayed; Name=2; IsoId=Q9UKJ0-2; Sequence=VSP_017504; Name=3; IsoId=Q9UKJ0-3; Sequence=VSP_017503, VSP_017504; Note=No experimental confirmation available.; 


uniprotID: Q96S52
geneSymbol: PIGS
reactome: R-HSA-162791;
name: GPI transamidase component PIG-S (Phosphatidylinositol-glycan biosynthesis class S protein)
length: 555
go: ENSG00000087111;
snps: rs34669811
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; GPI-anchor transamidase complex [GO:0042765]; membrane [GO:0016020]; GPI-anchor transamidase activity [GO:0003923]; attachment of GPI anchor to protein [GO:0016255]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96S52-1; Sequence=Displayed; Name=2; IsoId=Q96S52-2; Sequence=VSP_013158; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11483512}; Multi-pass membrane protein {ECO:0000269|PubMed:11483512}.


uniprotID: Q9P1W9
geneSymbol: PIM2
pdb: 2IWI;4X7Q;
name: Serine/threonine-protein kinase pim-2 (EC 2.7.11.1) (Pim-2h)
length: 311
go: ENSG00000102096;
snps: rs35044770 rs35208542
sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; apoptotic mitochondrial changes [GO:0008637]; cell proliferation [GO:0008283]; G1/S transition of mitotic cell cycle [GO:0000082]; male meiotic nuclear division [GO:0007140]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein binding [GO:0032091]; positive regulation of autophagy [GO:0010508]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of macroautophagy [GO:0016239]; positive regulation of transcription, DNA-templated [GO:0045893]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; response to virus [GO:0009615]


uniprotID: Q9Y237
geneSymbol: PIN4
pdb: 1EQ3;1FJD;3UI4;3UI5;3UI6;
length: 131
go: ENSG00000102309;
snps: rs6525589 rs7058353
name:
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 (EC 5.2.1.8) (Parvulin-14) (Par14) (hPar14) (Parvulin-17) (Par17) (hPar17) (Peptidyl-prolyl cis-trans isomerase Pin4) (PPIase Pin4) (Peptidyl-prolyl cis/trans isomerase EPVH) (hEPVH) (Rotamase Pin4)

sequence:
MPPKGKSGSGKAGKGGAASGSDSADKKAQGPKGGGNAVKVRHILCEKHGKIMEAMEKLKSGMRFNEVAAQYSEDKARQGGDLGWMTRGSMVGPFQEAAFALPVSGMDKPVFTDPPVKTKFGYHIIMVEGRK

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; nucleolus [GO:0005730]; nucleus [GO:0005634]; preribosome [GO:0030684]; spindle [GO:0005819]; bent DNA binding [GO:0003681]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=3;  Name=1; IsoId=Q9Y237-1; Sequence=Displayed; Name=2; IsoId=Q9Y237-2; Sequence=VSP_037754; Note=The first 25 amino acids are sufficient for mitochondrial targeting. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16522211}; Name=3; IsoId=Q9Y237-3; Sequence=VSP_037754, VSP_046122; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Note=Colocalizes in the nucleolus during interphase and on the spindle apparatus during mitosis with NPM1.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion. Mitochondrion matrix. Note=Imported in a time- and membrane potential-dependent manner to the mitochondrial matrix, but without concomitant processing of the protein. Directed to mitochondria by a novel N-terminal domain that functions as non-cleavable mitochondrial targeting peptide.


uniprotID: Q9BXM7
geneSymbol: PINK1
reactome: R-HSA-5205685;
length: 581
go: ENSG00000158828;
name:
Serine/threonine-protein kinase PINK1, mitochondrial (EC 2.7.11.1) (BRPK) (PTEN-induced putative kinase protein 1)

sequence:

opentargets:
astrocyte projection [GO:0097449]; axon [GO:0030424]; cell body [GO:0044297]; chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; growth cone [GO:0030426]; integral component of mitochondrial outer membrane [GO:0031307]; Lewy body [GO:0097413]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; C3HC4-type RING finger domain binding [GO:0055131]; calcium-dependent protein kinase activity [GO:0010857]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; peptidase activator activity [GO:0016504]; protease binding [GO:0002020]; protein kinase activity [GO:0004672]; protein kinase B binding [GO:0043422]; protein serine/threonine kinase activity [GO:0004674]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase B activity [GO:0032148]; autophagy of mitochondrion [GO:0000422]; cellular response to hydrogen sulfide [GO:1904881]; cellular response to hypoxia [GO:0071456]; cellular response to oxidative stress [GO:0034599]; cellular response to toxic substance [GO:0097237]; establishment of protein localization to mitochondrion [GO:0072655]; intracellular signal transduction [GO:0035556]; macroautophagy [GO:0016236]; maintenance of protein location in mitochondrion [GO:0072656]; mitochondrion organization [GO:0007005]; mitochondrion to lysosome transport [GO:0099074]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of autophagy of mitochondrion [GO:1903147]; negative regulation of gene expression [GO:0010629]; negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway [GO:1903384]; negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway [GO:1903298]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide [GO:1903751]; negative regulation of JNK cascade [GO:0046329]; negative regulation of macroautophagy [GO:0016242]; negative regulation of mitochondrial fission [GO:0090258]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of oxidative stress-induced cell death [GO:1903202]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; peptidyl-serine autophosphorylation [GO:0036289]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of cristae formation [GO:1903852]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of dopamine secretion [GO:0033603]; positive regulation of free ubiquitin chain polymerization [GO:1904544]; positive regulation of histone deacetylase activity [GO:1901727]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of macroautophagy [GO:0016239]; positive regulation of mitochondrial electron transport, NADH to ubiquinone [GO:1902958]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of mitophagy in response to mitochondrial depolarization [GO:0098779]; positive regulation of NMDA glutamate receptor activity [GO:1904783]; positive regulation of peptidase activity [GO:0010952]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of synaptic transmission, dopaminergic [GO:0032226]; positive regulation of translation [GO:0045727]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of cellular response to oxidative stress [GO:1900407]; regulation of hydrogen peroxide metabolic process [GO:0010310]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of mitochondrion organization [GO:0010821]; regulation of oxidative phosphorylation [GO:0002082]; regulation of proteasomal protein catabolic process [GO:0061136]; regulation of protein complex assembly [GO:0043254]; regulation of protein targeting to mitochondrion [GO:1903214]; regulation of protein ubiquitination [GO:0031396]; regulation of reactive oxygen species metabolic process [GO:2000377]; regulation of synaptic vesicle transport [GO:1902803]; respiratory electron transport chain [GO:0022904]; response to ischemia [GO:0002931]; response to oxidative stress [GO:0006979]; TORC2 signaling [GO:0038203]; ubiquitin-dependent protein catabolic process [GO:0006511]

snps:
rs763142730 rs1385309950 rs575668171 rs148871409 rs45604240 rs138050841 rs56297806 rs768091663 rs143204084 rs138302371 rs35802484 rs34677717 rs371854396 rs74315360 rs573931674 rs370906995 rs372280083 rs28940284 rs548506734 rs74315358 rs772510148 rs779060308 rs7349186 rs74315355 rs74315359 rs200949139 rs139226733 rs768019187 rs55831733 rs3738136 rs35813094 rs28940285 rs1195888869 rs34203620 rs45515602 rs1035071310 rs119451946 rs556540177 rs45478900 rs554114655 rs74315361 rs747400197 rs764328076 rs115477764 rs34416410 rs1043424 rs531477772 rs771032673 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:14607334}; IsoId=Q9BXM7-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9BXM7-2; Sequence=VSP_050754, VSP_050755; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:15087508, ECO:0000269|PubMed:18687899, ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:20798600, ECO:0000269|PubMed:23933751}; Single-pass membrane protein {ECO:0000255}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q99MQ3}; Single-pass membrane protein {ECO:0000255}. Cytoplasm, cytosol {ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:20798600}. Note=Localizes mostly in mitochondrion and the 2 proteolytic processed fragments of 55 kDa and 48 kDa localize mainly in cytosol. {ECO:0000269|PubMed:19229105}.


uniprotID: Q9GZU8
geneSymbol: FAM192A
name: PSME3-interacting protein (NEFA-interacting nuclear protein NIP30) (PA28G-interacting protein)
length: 254
go: ENSG00000172775;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29934401}.
sequence:

opentargets:
nucleus [GO:0005634]; negative regulation of proteasomal protein catabolic process [GO:1901799]; negative regulation of protein binding [GO:0032091]


uniprotID: P0C851
geneSymbol: PIRT
name: Phosphoinositide-interacting protein
length: 137
go: ENSG00000233670;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MTMETLPKVLEVDEKSPEAKDLLPSQTASSLCISSRSESVWTTTPRSNWEIYRKPIVIMSVGGAILLFGVVITCLAYTLKLSDKSLSILKMVGPGFLSLGLMMLVCGLVWVPIIKKKQKHRQKSNFLRSLKSFFLTR

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; ion channel binding [GO:0044325]; phosphatidylinositol bisphosphate binding [GO:1902936]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; behavioral response to pain [GO:0048266]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cation channel activity [GO:2001259]; response to heat [GO:0009408]


uniprotID: Q9GZP4
geneSymbol: PITHD1
name: PITH domain-containing protein 1
length: 211
go: ENSG00000057757;
opentargets: nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZP4-1; Sequence=Displayed; Name=2; IsoId=Q9GZP4-2; Sequence=VSP_024807; 


uniprotID: Q9BZ72
geneSymbol: PITPNM2
reactome: R-HSA-1483226;
length: 1349
go: ENSG00000090975;
snps: rs17884869 rs55813219
name:
Membrane-associated phosphatidylinositol transfer protein 2 (Phosphatidylinositol transfer protein, membrane-associated 2) (PITPnm 2) (Pyk2 N-terminal domain-interacting receptor 3) (NIR-3)

sequence:

opentargets:
cell body [GO:0044297]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine transporter activity [GO:0008525]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol transporter activity [GO:0008526]; receptor tyrosine kinase binding [GO:0030971]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol-mediated signaling [GO:0048015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZ72-1; Sequence=Displayed; Name=2; IsoId=Q9BZ72-2; Sequence=VSP_017962, VSP_017963; Note=No experimental confirmation available.; Name=3; IsoId=Q9BZ72-3; Sequence=VSP_017961; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:22361696}; Peripheral membrane protein {ECO:0000269|PubMed:22361696}.


uniprotID: Q9UG56
geneSymbol: PISD
reactome: R-HSA-1483213;
length: 409
go: ENSG00000241878;
drug: DB00144;
name:
Phosphatidylserine decarboxylase proenzyme, mitochondrial (EC 4.1.1.65) [Cleaved into: Phosphatidylserine decarboxylase beta chain; Phosphatidylserine decarboxylase alpha chain]

sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; phosphatidylserine decarboxylase activity [GO:0004609]; phosphatidylethanolamine biosynthetic process [GO:0006646]; protein autoprocessing [GO:0016540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UG56-3; Sequence=Displayed; Name=2; IsoId=Q9UG56-2; Sequence=VSP_007540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Phosphatidylserine decarboxylase beta chain: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03208}; Single-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03208}; Intermembrane side {ECO:0000255|HAMAP-Rule:MF_03208}.; SUBCELLULAR LOCATION: Phosphatidylserine decarboxylase alpha chain: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03208}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03208}; Intermembrane side {ECO:0000255|HAMAP-Rule:MF_03208}. Note=Anchored to the mitochondrial inner membrane through its interaction with the integral membrane beta chain. {ECO:0000255|HAMAP-Rule:MF_03208}.


uniprotID: Q96J94
geneSymbol: PIWIL1
reactome: R-HSA-5601884;
pdb: 2L5C;2L5D;3O3I;3O6E;3O7V;
name: Piwi-like protein 1 (EC 3.1.26.-)
length: 861
go: ENSG00000125207;
snps: rs17856812 rs1106042 rs17852568
sequence:

opentargets:
chromatoid body [GO:0033391]; cytoplasm [GO:0005737]; dense body [GO:0097433]; nucleus [GO:0005634]; P granule [GO:0043186]; endoribonuclease activity [GO:0004521]; metal ion binding [GO:0046872]; mRNA binding [GO:0003729]; piRNA binding [GO:0034584]; polysome binding [GO:1905538]; protein kinase binding [GO:0019901]; single-stranded RNA binding [GO:0003727]; gene silencing by RNA [GO:0031047]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; negative regulation of transposition [GO:0010529]; piRNA metabolic process [GO:0034587]; regulation of translation [GO:0006417]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; spermatogenesis, exchange of chromosomal proteins [GO:0035093]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96J94-1; Sequence=Displayed; Name=2; IsoId=Q96J94-2; Sequence=VSP_018368, VSP_018369; Name=3; IsoId=Q96J94-3; Sequence=VSP_018366, VSP_018367; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9JMB7}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Also present in chromatoid body. {ECO:0000250|UniProtKB:Q9JMB7}.


uniprotID: Q7Z442
geneSymbol: PKD1L2
name: Polycystic kidney disease protein 1-like 2 (PC1-like 2 protein) (Polycystin-1L2)
length: 2459
go: ENSG00000166473;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; detection of mechanical stimulus [GO:0050982]

snps:
rs9924530 rs9924371 rs9934272 rs7191351 rs7185774 rs35528333 rs35970134 rs36099350 rs8060294 rs12933806 rs34719852 rs6564838 rs6420424 rs11150370 rs9937169 rs7194871 rs9934856 rs7205673 rs13339342 rs4889261 rs9935113 rs1869349 rs12596941 rs745211 rs34504526 rs35292101 rs12597040 rs12931227 rs12931217 rs16954794 rs734824 rs1453324 rs1453325 rs9938333 rs1453326 rs8050904 rs16954775 rs9921827 rs9921748 rs7192948 rs7194136 rs35941327 rs4889244 rs12918619 rs16954722 rs7206183 rs16954717 rs8050204 rs4889241 rs4889238 rs8054182 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z442-1; Sequence=Displayed; Name=2; Synonyms=Long isoform; IsoId=Q7Z442-2; Sequence=VSP_031942; Name=3; IsoId=Q7Z442-3; Sequence=VSP_031946, VSP_031948; Name=4; IsoId=Q7Z442-4; Sequence=VSP_031942, VSP_031946, VSP_031948; Note=No experimental confirmation available.; Name=6; IsoId=Q7Z442-6; Sequence=VSP_031942, VSP_031944, VSP_031945, VSP_031947; Note=No experimental confirmation available.; 


uniprotID: Q9P0L9
geneSymbol: PKD2L1
pdb: 3TE3;4GIF;6DU8;
length: 805
go: ENSG00000107593;
snps: rs17112895 rs7909153 rs2278842 rs6584356 rs12782963
name:
Polycystic kidney disease 2-like 1 protein (Polycystin-2 homolog) (Polycystin-2L1) (Polycystin-L) (Polycystin-L1)

sequence:

opentargets:
calcium channel complex [GO:0034704]; cell surface [GO:0009986]; ciliary membrane [GO:0060170]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; alpha-actinin binding [GO:0051393]; calcium activated cation channel activity [GO:0005227]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-activated potassium channel activity [GO:0015269]; cation channel activity [GO:0005261]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; muscle alpha-actinin binding [GO:0051371]; sodium channel activity [GO:0005272]; sour taste receptor activity [GO:0033040]; cation transport [GO:0006812]; cellular response to acidic pH [GO:0071468]; detection of chemical stimulus involved in sensory perception of sour taste [GO:0001581]; detection of mechanical stimulus [GO:0050982]; potassium ion transmembrane transport [GO:0071805]; protein homotrimerization [GO:0070207]; sensory perception of sour taste [GO:0050915]; smoothened signaling pathway [GO:0007224]; sodium ion transmembrane transport [GO:0035725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9P0L9-1; Sequence=Displayed; Name=2; Synonyms=PKDLdel15, PCL-TS, Testis isoform; IsoId=Q9P0L9-2; Sequence=VSP_004730, VSP_004731; Name=3; Synonyms=PKDLdel5; IsoId=Q9P0L9-3; Sequence=VSP_004729; Name=4; Synonyms=PKDLdel456; IsoId=Q9P0L9-4; Sequence=VSP_004728; Note=Unusual intron exon spliced junction.; Name=5; Synonyms=PCL-LV, Liver isoform; IsoId=Q9P0L9-5; Sequence=VSP_053718; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum {ECO:0000250}. Note=Interaction with PKD1 or PKD1L3 is required for localization to the cell membrane.


uniprotID: Q96PX9
geneSymbol: PLEKHG4B
name: Pleckstrin homology domain-containing family G member 4B (PH domain-containing family G member 4B)
length: 1271
go: ENSG00000153404;
snps: rs12516846 rs12523402 rs11949577 rs13436090 rs3810869 rs29674 rs4956987 rs12519352
sequence:

opentargets:
Rho guanyl-nucleotide exchange factor activity [GO:0005089]; regulation of Rho protein signal transduction [GO:0035023]


uniprotID: Q9ULU4
geneSymbol: ZMYND8
pdb: 4COS;5B73;5MQ4;5Y1Z;
length: 1186
go: ENSG00000101040;
snps: rs2275801
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27477906}.
name:
Protein kinase C-binding protein 1 (Cutaneous T-cell lymphoma-associated antigen se14-3) (CTCL-associated antigen se14-3) (Rack7) (Zinc finger MYND domain-containing protein 8)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; nucleus [GO:0005634]; lysine-acetylated histone binding [GO:0070577]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; protein N-terminus binding [GO:0047485]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; modulation of excitatory postsynaptic potential [GO:0098815]; negative regulation of cell migration [GO:0030336]; negative regulation of transcription from RNA polymerase II promoter by histone modification [GO:1903758]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of dendritic spine maintenance [GO:1902952]; positive regulation of filopodium assembly [GO:0051491]; regulation of postsynaptic density protein 95 clustering [GO:1902897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=23;  Name=1; IsoId=Q9ULU4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9ULU4-2; Sequence=VSP_000566, VSP_000568; Name=3; IsoId=Q9ULU4-3; Sequence=VSP_000564, VSP_000568; Name=4; IsoId=Q9ULU4-4; Sequence=VSP_000565, VSP_000568; Name=5; IsoId=Q9ULU4-5; Sequence=VSP_000563, VSP_000567; Name=6; IsoId=Q9ULU4-6; Sequence=VSP_000564, VSP_000568, VSP_000570; Note=No experimental confirmation available.; Name=7; IsoId=Q9ULU4-7; Sequence=VSP_000563, VSP_000570; Name=8; IsoId=Q9ULU4-8; Sequence=VSP_000563, VSP_017096, VSP_000570; Name=9; IsoId=Q9ULU4-9; Sequence=VSP_000568, VSP_000570; Note=No experimental confirmation available.; Name=10; IsoId=Q9ULU4-10; Sequence=VSP_000563; Name=11; IsoId=Q9ULU4-11; Sequence=VSP_000570; Name=12; IsoId=Q9ULU4-12; Sequence=VSP_000563, VSP_000568; Name=13; IsoId=Q9ULU4-13; Sequence=VSP_000563, VSP_000568, VSP_000570; Name=14; IsoId=Q9ULU4-14; Sequence=VSP_000563, VSP_000567, VSP_000568; Name=15; IsoId=Q9ULU4-15; Sequence=VSP_000563, VSP_000567, VSP_053400, VSP_000568; Name=16; IsoId=Q9ULU4-16; Sequence=VSP_000563, VSP_000567, VSP_000568, VSP_000570; Name=17; IsoId=Q9ULU4-17; Sequence=VSP_000563, VSP_000567, VSP_017096; Note=No experimental confirmation available. {ECO:0000244|PubMed:25218447, ECO:0000244|PubMed:25755297, ECO:0000244|PubMed:28112733}; Name=18; IsoId=Q9ULU4-18; Sequence=VSP_000563, VSP_000567, VSP_053400; Note=No experimental confirmation available. {ECO:0000244|PubMed:25218447, ECO:0000244|PubMed:25755297, ECO:0000244|PubMed:28112733}; Name=19; IsoId=Q9ULU4-19; Sequence=VSP_054810, VSP_000570; Note=No experimental confirmation available.; Name=20; IsoId=Q9ULU4-20; Sequence=VSP_054811, VSP_000567; Note=No experimental confirmation available.; Name=21; IsoId=Q9ULU4-21; Sequence=VSP_000567, VSP_000568; Note=No experimental confirmation available.; Name=22; IsoId=Q9ULU4-22; Sequence=VSP_000563, VSP_000568, VSP_054814, VSP_000570; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:25218447, ECO:0000244|PubMed:25755297, ECO:0000244|PubMed:28112733}; Name=23; IsoId=Q9ULU4-23; Sequence=VSP_000567, VSP_054812, VSP_000568, VSP_000570; Note=No experimental confirmation available.; 


uniprotID: Q3KR16
geneSymbol: PLEKHG6
length: 790
go: ENSG00000008323;
snps: rs740842
name:
Pleckstrin homology domain-containing family G member 6 (PH domain-containing family G member 6) (Myosin-interacting guanine nucleotide exchange factor) (MyoGEF)

sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; microvillus [GO:0005902]; spindle pole [GO:0000922]; GTPase activator activity [GO:0005096]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3KR16-1; Sequence=Displayed; Name=2; IsoId=Q3KR16-2; Sequence=VSP_028857; Note=No experimental confirmation available.; Name=3; IsoId=Q3KR16-3; Sequence=VSP_028856, VSP_028858; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, microvillus {ECO:0000269|PubMed:17881735}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16721066}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16721066}. Cleavage furrow {ECO:0000269|PubMed:16721066}. Note=During mitosis, localizes to the spindle pole, central spindle and cleavage furrow (PubMed:16721066). In epithelial cells, recruited to the apical membrane by EZR where it participates in macropinocytosis (PubMed:17881735). {ECO:0000269|PubMed:16721066, ECO:0000269|PubMed:17881735}.


uniprotID: Q6ZR37
geneSymbol: PLEKHG7
name: Pleckstrin homology domain-containing family G member 7 (PH domain-containing family G member 7)
length: 379
go: ENSG00000187510;
snps: rs17790310 rs924326
sequence:


uniprotID: Q9ULM0
geneSymbol: PLEKHH1
name: Pleckstrin homology domain-containing family H member 1 (PH domain-containing family H member 1)
length: 1364
go: ENSG00000054690;
opentargets: cytoskeleton [GO:0005856]
snps: rs7150973 rs3825723 rs2236235 rs3825725 rs17104428 rs11158685
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULM0-1; Sequence=Displayed; Name=2; IsoId=Q9ULM0-2; Sequence=VSP_029347, VSP_029348, VSP_029349; Note=No experimental confirmation available.; 


uniprotID: Q9HAU0
geneSymbol: PLEKHA5
reactome: R-HSA-1660499;
pdb: 2DKP;
length: 1116
go: ENSG00000052126;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22037487}.
name:
Pleckstrin homology domain-containing family A member 5 (PH domain-containing family A member 5) (Phosphoinositol 3-phosphate-binding protein 2) (PEPP-2)

sequence:

opentargets:
cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; postsynaptic density [GO:0014069]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; reproductive system development [GO:0061458]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=S; IsoId=Q9HAU0-1; Sequence=Displayed; Name=2; IsoId=Q9HAU0-2; Sequence=VSP_009775; Note=No experimental confirmation available.; Name=3; IsoId=Q9HAU0-3; Sequence=VSP_009776, VSP_014595; Note=No experimental confirmation available.; Name=4; IsoId=Q9HAU0-4; Sequence=VSP_009778; Note=No experimental confirmation available.; Name=5; IsoId=Q9HAU0-5; Sequence=VSP_009777; Note=No experimental confirmation available.; Name=6; Synonyms=L; IsoId=Q9HAU0-6; Sequence=VSP_044678, VSP_009775, VSP_044679, VSP_009778; Note=Specifically expressed in brain.; Name=7; IsoId=Q9HAU0-7; Sequence=VSP_046861; Note=No experimental confirmation available.; Name=8; IsoId=Q9HAU0-8; Sequence=VSP_047514, VSP_047515, VSP_009778; Note=No experimental confirmation available.; 


uniprotID: Q9Y2H5
geneSymbol: PLEKHA6
reactome: R-HSA-1660499;
pdb: 2D9Y;2YRY;
length: 1048
go: ENSG00000143850;
snps: rs10900571 rs10900562
name:
Pleckstrin homology domain-containing family A member 6 (PH domain-containing family A member 6) (Phosphoinositol 3-phosphate-binding protein 3) (PEPP-3)

sequence:


uniprotID: Q9Y4G2
geneSymbol: PLEKHM1
pdb: 5DPR;5DPS;5DPT;5DPW;
length: 1056
go: ENSG00000225190;
snps: rs1859059
name:
Pleckstrin homology domain-containing family M member 1 (PH domain-containing family M member 1) (162 kDa adapter protein) (AP162)

sequence:

opentargets:
endosome membrane [GO:0010008]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; nucleolus [GO:0005730]; metal ion binding [GO:0046872]; autophagy [GO:0006914]; intracellular signal transduction [GO:0035556]; lysosome localization [GO:0032418]; positive regulation of bone resorption [GO:0045780]; positive regulation of ruffle assembly [GO:1900029]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Endosome membrane {ECO:0000269|PubMed:20943950}. Lysosome {ECO:0000269|PubMed:25500191}. Lysosome membrane {ECO:0000269|PubMed:25498145}. Note=Localizes to the external membrane of autolysosomes (PubMed:25498145). In case of infection colocalizes with Salmonella typhimurium sifA in proximity of Salmonella-containing vacuole (SCV) (PubMed:25500191). {ECO:0000269|PubMed:25498145, ECO:0000269|PubMed:25500191}.


uniprotID: Q6ZWE6
geneSymbol: PLEKHM3
length: 761
go: ENSG00000178385;
name:
Pleckstrin homology domain-containing family M member 3 (PH domain-containing family M member 3) (Differentiation associated protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; myoblast differentiation [GO:0045445]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZWE6-1; Sequence=Displayed; Name=2; IsoId=Q6ZWE6-2; Sequence=VSP_032513; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZWE6-3; Sequence=VSP_032511, VSP_032512; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BM47}. Golgi apparatus {ECO:0000250|UniProtKB:Q8BM47}. Cell membrane {ECO:0000250|UniProtKB:Q8BM47}. Note=Before differentiation of muscle cells, localized to the Golgi apparatus. During muscle differentiation shuttles to the plasma membrane. {ECO:0000250|UniProtKB:Q8BM47}.


uniprotID: P08F94
geneSymbol: PKHD1
name: Fibrocystin (Polycystic kidney and hepatic disease 1 protein) (Polyductin) (Tigmin)
length: 4074
go: ENSG00000170927;
sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; apical plasma membrane [GO:0016324]; centrosome [GO:0005813]; chromosome, centromeric region [GO:0000775]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; mitotic spindle [GO:0072686]; perinuclear region of cytoplasm [GO:0048471]; signaling receptor activity [GO:0038023]; cell-cell adhesion [GO:0098609]; cellular calcium ion homeostasis [GO:0006874]; cilium assembly [GO:0060271]; homeostatic process [GO:0042592]; kidney development [GO:0001822]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cellular component movement [GO:0051271]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein kinase B signaling [GO:0051898]; positive regulation of cell proliferation [GO:0008284]; regulation of centrosome duplication [GO:0010824]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of TOR signaling [GO:0032006]

snps:
rs755654557 rs137852944 rs370277502 rs149522482 rs369925690 rs749454235 rs1037991711 rs775254013 rs886042259 rs367590965 rs398124499 rs778329699 rs750730042 rs776845008 rs749730748 rs45500692 rs794727366 rs1229139298 rs201432731 rs758352210 rs200654041 rs777183511 rs9370096 rs745770404 rs9370096 rs199531851 rs62406032 rs200986136 rs142107837 rs41273726 rs748540413 rs9296669 rs1421520936 rs200391019 rs28937907 rs45517932 rs141103838 rs137852946 rs201105958 rs777999875 rs2435322 rs202016058 rs1210846081 rs180675584 rs761786260 rs759687904 rs751084512 rs200179145 rs201881567 rs201881567 rs1280884139 rs752994816 rs7766366 rs398124495 rs794727759 rs150925674 rs142522748 rs776068047 rs760222236 rs141169758 rs137852945 rs893497345 rs367678592 rs765526 rs139306706 rs142146981 rs201066635 rs45503297 rs200511261 rs148932323 rs149798764 rs756792624 rs748863662 rs137852950 rs148617572 rs139014478 rs145184792 rs751593192 rs137852948 rs9474034 rs76572975 rs4715227 rs2661488 rs2661487 rs146680689 rs34548196 rs9381994 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist. As a matter of fact, alternatively spliced products seem to fall into two broad groups: one group, which includes the longest continuous ORF but which may also include molecules lacking some middle domains, has a single TM element and is likely to be associated with the plasma membrane. The other group lacks a TM domain and thus its members may be secreted.; Name=1; IsoId=P08F94-1; Sequence=Displayed; Name=2; IsoId=P08F94-2; Sequence=VSP_003947, VSP_003948; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15458427}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:15458427}. Cell projection, cilium {ECO:0000269|PubMed:14978161, ECO:0000269|PubMed:15458427}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:14978161}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20554582}. Chromosome, centromere {ECO:0000269|PubMed:20554582}.


uniprotID: Q96S99
geneSymbol: PLEKHF1
length: 279
go: ENSG00000166289;
name:
Pleckstrin homology domain-containing family F member 1 (PH domain-containing family F member 1) (Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains) (Apoptosis-inducing protein) (PH and FYVE domain-containing protein 1) (Phafin-1) (Zinc finger FYVE domain-containing protein 15)

sequence:

opentargets:
endosome membrane [GO:0010008]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; apoptotic process [GO:0006915]; endosome organization [GO:0007032]; positive regulation of autophagy [GO:0010508]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; protein localization to plasma membrane [GO:0072659]; vesicle organization [GO:0016050]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16188880}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16188880}. Lysosome {ECO:0000269|PubMed:16188880}. Note=Translocates to lysosome during apoptosis.


uniprotID: Q504Y2
geneSymbol: PKDCC
length: 493
go: ENSG00000162878;
name:
Extracellular tyrosine-protein kinase PKDCC (EC 2.7.10.2) (Protein kinase domain-containing protein, cytoplasmic) (Protein kinase-like protein SgK493) (Sugen kinase 493) (Vertebrate lonesome kinase)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein kinase activity [GO:0004672]; bone mineralization [GO:0030282]; cell differentiation [GO:0030154]; embryonic digestive tract development [GO:0048566]; limb morphogenesis [GO:0035108]; lung alveolus development [GO:0048286]; multicellular organism growth [GO:0035264]; negative regulation of Golgi to plasma membrane protein transport [GO:0042997]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of bone mineralization [GO:0030501]; positive regulation of chondrocyte differentiation [GO:0032332]; protein transport [GO:0015031]; roof of mouth development [GO:0060021]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25171405}. Golgi apparatus {ECO:0000250|UniProtKB:Q5RJI4}.


uniprotID: Q8TD55
geneSymbol: PLEKHO2
reactome: R-HSA-6798695;
length: 490
go: ENSG00000241839;
snps: rs2010875
name:
Pleckstrin homology domain-containing family O member 2 (PH domain-containing family O member 2) (Pleckstrin homology domain-containing family Q member 1) (PH domain-containing family Q member 1)

sequence:

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TD55-1; Sequence=Displayed; Name=2; IsoId=Q8TD55-2; Sequence=VSP_029212; Note=No experimental confirmation available.; 


uniprotID: Q9NTG1
geneSymbol: PKDREJ
name: Polycystic kidney disease and receptor for egg jelly-related protein (PKD and REJ homolog)
length: 2253
go: ENSG00000130943;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; acrosome reaction [GO:0007340]; detection of mechanical stimulus [GO:0050982]

snps:
rs7293071 rs6008394 rs6519993 rs7291444 rs34798212 rs6008384 rs36125344 rs35276226 rs4823496 rs9626829 


uniprotID: O94827
geneSymbol: PLEKHG5
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 1062
go: ENSG00000171680;
snps: rs63750315 rs397515456 rs202191898
name:
Pleckstrin homology domain-containing family G member 5 (PH domain-containing family G member 5) (Guanine nucleotide exchange factor 720) (GEF720)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; lamellipodium [GO:0030027]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; endothelial cell chemotaxis [GO:0035767]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of protein catabolic process at presynapse, modulating synaptic transmission [GO:0099575]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=O94827-1; Sequence=Displayed; Name=2; IsoId=O94827-2; Sequence=VSP_028584; Note=No experimental confirmation available.; Name=3; IsoId=O94827-3; Sequence=VSP_028583; Note=No experimental confirmation available.; Name=4; IsoId=O94827-4; Sequence=VSP_036986, VSP_036987, VSP_036988; Note=No experimental confirmation available.; Name=5; IsoId=O94827-5; Sequence=VSP_036986; Note=No experimental confirmation available.; Name=6; IsoId=O94827-6; Sequence=VSP_044746; Note=No experimental confirmation available.; Name=7; IsoId=O94827-7; Sequence=VSP_045964; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q66T02}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q66T02}. Cell membrane {ECO:0000250|UniProtKB:Q66T02}. Cell junction {ECO:0000250|UniProtKB:Q66T02}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q66T02}. Note=Predominantly cytoplasmic, however when endothelial cells are stimulated with lysophosphatidic acid, PLEKHG5 is found in perinuclear regions and at the cell membrane. Localizes at cell-cell junctions in quiescent endothelial cells, and relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells. {ECO:0000250|UniProtKB:Q66T02}.


uniprotID: Q7Z3Z4
geneSymbol: PIWIL4
reactome: R-HSA-5601884;
name: Piwi-like protein 4
length: 852
go: ENSG00000134627;
snps: rs12276921 rs12272255 rs11020845 rs57607909
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P granule [GO:0043186]; piP-body [GO:0071547]; piRNA binding [GO:0034584]; cell differentiation [GO:0030154]; DNA methylation involved in gamete generation [GO:0043046]; gene silencing by RNA [GO:0031047]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; negative regulation of transposition [GO:0010529]; piRNA metabolic process [GO:0034587]; regulation of translation [GO:0006417]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z3Z4-1; Sequence=Displayed; Name=2; IsoId=Q7Z3Z4-2; Sequence=VSP_021031, VSP_021032, VSP_021033; Name=3; IsoId=Q7Z3Z4-3; Sequence=VSP_036665, VSP_021032, VSP_021033; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8CGT6}. Cytoplasm {ECO:0000250|UniProtKB:Q8CGT6}. Note=Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. PIWIL2/MILI is required for nuclear localization (By similarity). {ECO:0000250|UniProtKB:Q8CGT6}.


uniprotID: P55347
geneSymbol: PKNOX1
reactome: R-HSA-5617472;
pdb: 1X2N;
name: Homeobox protein PKNOX1 (Homeobox protein PREP-1) (PBX/knotted homeobox 1)
length: 436
go: ENSG00000160199;
snps: rs9976017 rs17115709 rs376883451
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; angiogenesis [GO:0001525]; camera-type eye development [GO:0043010]; erythrocyte differentiation [GO:0030218]; T cell differentiation [GO:0030217]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55347-1; Sequence=Displayed; Name=2; Synonyms=PKNOX1B; IsoId=P55347-2; Sequence=VSP_017260; 


uniprotID: Q96KN3
geneSymbol: PKNOX2
name: Homeobox protein PKNOX2 (Homeobox protein PREP-2) (PBX/knotted homeobox 2)
length: 472
go: ENSG00000165495;
snps: rs34936365
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:11549286}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96KN3-1; Sequence=Displayed; Name=2; IsoId=Q96KN3-2; Sequence=VSP_054306; Note=No experimental confirmation available.; 


uniprotID: Q0ZLH3
geneSymbol: PJVK
name: Pejvakin (Autosomal recessive deafness type 59 protein)
length: 352
go: ENSG00000204311;
opentargets: neuronal cell body [GO:0043025]; sensory perception of sound [GO:0007605]
snps: rs118203988 rs111706634 rs17304212 rs569088856
sequence:


uniprotID: Q53H76
geneSymbol: PLA1A
reactome: R-HSA-1482801;
name: Phospholipase A1 member A (EC 3.1.1.-) (Phosphatidylserine-specific phospholipase A1) (PS-PLA1)
length: 456
go: ENSG00000144837;
snps: rs1128293 rs61733987 rs2692622
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
acrosomal membrane [GO:0002080]; extracellular region [GO:0005576]; phosphatidylserine 1-acylhydrolase activity [GO:0052739]; phospholipase A1 activity [GO:0008970]; lipid catabolic process [GO:0016042]; lipid metabolic process [GO:0006629]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phosphatidylserine metabolic process [GO:0006658]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q53H76-1; Sequence=Displayed; Name=2; Synonyms=DeltaC; IsoId=Q53H76-2; Sequence=VSP_022508, VSP_022509; Name=3; IsoId=Q53H76-3; Sequence=VSP_022507; Note=No experimental confirmation available.; Name=4; IsoId=Q53H76-4; Sequence=VSP_044944; Note=No experimental confirmation available.; 


uniprotID: Q9Y263
geneSymbol: PLAA
pdb: 2K89;2K8A;2K8B;2K8C;3EBB;
name: Phospholipase A-2-activating protein (PLA2P) (PLAP)
length: 795
go: ENSG00000137055;
snps: rs747956857 rs1114167457
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; synapse [GO:0045202]; phospholipase A2 activator activity [GO:0016005]; ubiquitin binding [GO:0043130]; cellular response to lipopolysaccharide [GO:0071222]; inflammatory response [GO:0006954]; macroautophagy [GO:0016236]; negative regulation of protein K63-linked ubiquitination [GO:1900045]; phospholipid metabolic process [GO:0006644]; positive regulation of dendrite extension [GO:1903861]; positive regulation of neuron migration [GO:2001224]; positive regulation of phospholipase A2 activity [GO:0032430]; positive regulation of synaptic vesicle recycling [GO:1903423]; prostaglandin metabolic process [GO:0006693]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; signal transduction [GO:0007165]; ubiquitin recycling [GO:0010992]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28007986}. Cytoplasm {ECO:0000269|PubMed:27753622, ECO:0000269|PubMed:28007986}. Cell junction, synapse {ECO:0000250|UniProtKB:P27612}. Note=Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains. {ECO:0000269|PubMed:27753622}.


uniprotID: Q6DJT9
geneSymbol: PLAG1
name: Zinc finger protein PLAG1 (Pleiomorphic adenoma gene 1 protein)
length: 500
go: ENSG00000181690;
snps: rs35883156
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; gland morphogenesis [GO:0022612]; multicellular organism growth [GO:0035264]; negative regulation of gene expression [GO:0010629]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prostate gland growth [GO:0060736]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6DJT9-1; Sequence=Displayed; Name=2; IsoId=Q6DJT9-2; Sequence=VSP_045183; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10646861, ECO:0000269|PubMed:11882654, ECO:0000269|PubMed:16207715}. Note=Strong nucleolar localization when sumoylation is inhibited.


uniprotID: P14923
geneSymbol: JUP
reactome: R-HSA-418990;R-HSA-5218920;R-HSA-6798695;R-HSA-6805567;R-HSA-6809371;
pdb: 3IFQ;
name: Junction plakoglobin (Catenin gamma) (Desmoplakin III) (Desmoplakin-3)
length: 745
go: ENSG00000173801;
snps: rs570878629 rs41283425 rs143043662 rs1126821
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apicolateral plasma membrane [GO:0016327]; catenin complex [GO:0016342]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; fascia adherens [GO:0005916]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; gamma-catenin-TCF7L2 complex [GO:0071665]; intercalated disc [GO:0014704]; intermediate filament [GO:0005882]; lateral plasma membrane [GO:0016328]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-DNA complex [GO:0032993]; specific granule lumen [GO:0035580]; Z disc [GO:0030018]; zonula adherens [GO:0005915]; alpha-catenin binding [GO:0045294]; cadherin binding [GO:0045296]; cell adhesion molecule binding [GO:0050839]; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication [GO:0086083]; nuclear hormone receptor binding [GO:0035257]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; structural constituent of cell wall [GO:0005199]; structural molecule activity [GO:0005198]; transcription coactivator activity [GO:0003713]; adherens junction organization [GO:0034332]; bundle of His cell-Purkinje myocyte adhesion involved in cell communication [GO:0086073]; cell migration [GO:0016477]; cell-cell adhesion [GO:0098609]; cellular response to indole-3-methanol [GO:0071681]; cornification [GO:0070268]; cytoskeletal anchoring at plasma membrane [GO:0007016]; desmosome assembly [GO:0002159]; detection of mechanical stimulus [GO:0050982]; endothelial cell-cell adhesion [GO:0071603]; keratinization [GO:0031424]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; neutrophil degranulation [GO:0043312]; positive regulation of angiogenesis [GO:0045766]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein heterooligomerization [GO:0051291]; protein localization to plasma membrane [GO:0072659]; regulation of cell proliferation [GO:0042127]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:22781308}. Cell junction, desmosome {ECO:0000269|PubMed:22781308}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22781308}. Membrane {ECO:0000269|PubMed:22781308}; Peripheral membrane protein {ECO:0000269|PubMed:22781308}. Note=Cytoplasmic in a soluble and membrane-associated form.


uniprotID: P19174
geneSymbol: PLCG1
pdb: 1HSQ;2HSP;4EY0;4FBN;
length: 1290
go: ENSG00000124181;
snps: rs2229348 rs2228246 rs34203315 rs753381
reactome:
R-HSA-1169408;R-HSA-1236382;R-HSA-1251932;R-HSA-1489509;R-HSA-167021;R-HSA-170968;R-HSA-1855204;R-HSA-186763;R-HSA-202433;R-HSA-2029485;R-HSA-210990;R-HSA-212718;R-HSA-2424491;R-HSA-2871796;R-HSA-2871809;R-HSA-418890;R-HSA-5218921;R-HSA-5637810;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-8853338;R-HSA-8853659;R-HSA-9026527;R-HSA-9034793;R-HSA-983695;

name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 (EC 3.1.4.11) (PLC-148) (Phosphoinositide phospholipase C-gamma-1) (Phospholipase C-II) (PLC-II) (Phospholipase C-gamma-1) (PLC-gamma-1)

sequence:

opentargets:
cell projection [GO:0042995]; cell-cell junction [GO:0005911]; COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; Schaffer collateral - CA1 synapse [GO:0098685]; calcium ion binding [GO:0005509]; glutamate receptor binding [GO:0035254]; neurotrophin TRKA receptor binding [GO:0005168]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; protein kinase binding [GO:0019901]; receptor tyrosine kinase binding [GO:0030971]; activation of phospholipase C activity [GO:0007202]; axon guidance [GO:0007411]; calcium-mediated signaling [GO:0019722]; cell migration [GO:0016477]; cellular response to epidermal growth factor stimulus [GO:0071364]; epidermal growth factor receptor signaling pathway [GO:0007173]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; in utero embryonic development [GO:0001701]; inositol phosphate metabolic process [GO:0043647]; leukocyte migration [GO:0050900]; modulation of chemical synaptic transmission [GO:0050804]; phospholipid catabolic process [GO:0009395]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; signal transduction [GO:0007165]; T cell receptor signaling pathway [GO:0050852]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19174-1; Sequence=Displayed; Name=2; IsoId=P19174-2; Sequence=VSP_038692; 

location:
SUBCELLULAR LOCATION: Cell projection, lamellipodium. Cell projection, ruffle. Note=Rapidly redistributed to ruffles and lamellipodia structures in response to epidermal growth factor (EGF) treatment.


uniprotID: Q00722
geneSymbol: PLCB2
pdb: 2FJU;2ZKM;
length: 1185
go: ENSG00000137841;
snps: rs45628633 rs8025153 rs9972332 rs28395835 rs936212
reactome:
R-HSA-112043;R-HSA-1855204;R-HSA-399997;R-HSA-4086398;R-HSA-416476;R-HSA-418217;R-HSA-434316;R-HSA-500657;

name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-2) (Phospholipase C-beta-2) (PLC-beta-2)

sequence:

opentargets:
cytosol [GO:0005829]; calcium ion binding [GO:0005509]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; activation of phospholipase C activity [GO:0007202]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; phospholipid metabolic process [GO:0006644]; sensory perception of bitter taste [GO:0050913]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q00722-1; Sequence=Displayed; Name=2; IsoId=Q00722-2; Sequence=VSP_035770; Name=3; IsoId=Q00722-3; Sequence=VSP_054490; Note=No experimental confirmation available.; 


uniprotID: Q01970
geneSymbol: PLCB3
pdb: 3OHM;4GNK;4QJ3;4QJ4;4QJ5;
length: 1234
go: ENSG00000149782;
snps: rs12146487
location: SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
reactome:
R-HSA-112043;R-HSA-1855204;R-HSA-399997;R-HSA-4086398;R-HSA-416476;R-HSA-418217;R-HSA-434316;R-HSA-500657;

name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-3) (Phospholipase C-beta-3) (PLC-beta-3)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; postsynaptic cytosol [GO:0099524]; protein-containing complex [GO:0032991]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; regulation of systemic arterial blood pressure [GO:0003073]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01970-1; Sequence=Displayed; Name=2; IsoId=Q01970-2; Sequence=VSP_046054; Note=No experimental confirmation available.; 


uniprotID: Q4KWH8
geneSymbol: PLCH1
reactome: R-HSA-1855204;
length: 1693
go: ENSG00000114805;
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 (EC 3.1.4.11) (Phosphoinositide phospholipase C-eta-1) (Phospholipase C-eta-1) (PLC-eta-1) (Phospholipase C-like protein 3) (PLC-L3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase C activity [GO:0050429]; phosphatidylinositol phospholipase C activity [GO:0004435]; inositol phosphate metabolic process [GO:0043647]; lipid catabolic process [GO:0016042]; phosphatidylinositol-mediated signaling [GO:0048015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=PLC-eta-1; IsoId=Q4KWH8-1; Sequence=Displayed; Name=2; IsoId=Q4KWH8-2; Sequence=VSP_032901, VSP_032902; Note=No experimental confirmation available.; Name=3; Synonyms=PLC-eta-1a; IsoId=Q4KWH8-3; Sequence=VSP_032904, VSP_032905; Name=4; IsoId=Q4KWH8-4; Sequence=VSP_032902, VSP_032903, VSP_032906; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15702972}. Membrane {ECO:0000269|PubMed:15702972}.


uniprotID: Q9UPR0
geneSymbol: PLCL2
length: 1127
go: ENSG00000154822;
snps: rs17853614 rs17857109 rs17857110 rs17853612 rs17853613
name:
Inactive phospholipase C-like protein 2 (PLC-L(2)) (PLC-L2) (Phospholipase C-L2) (Phospholipase C-epsilon-2) (PLC-epsilon-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; GABA receptor binding [GO:0050811]; inositol 1,4,5 trisphosphate binding [GO:0070679]; phosphatidylinositol phospholipase C activity [GO:0004435]; B cell proliferation involved in immune response [GO:0002322]; B-1a B cell differentiation [GO:0002337]; gamma-aminobutyric acid signaling pathway [GO:0007214]; intracellular signal transduction [GO:0035556]; lipid metabolic process [GO:0006629]; negative regulation of B cell receptor signaling pathway [GO:0050859]; negative regulation of cold-induced thermogenesis [GO:0120163]; positive regulation of receptor binding [GO:1900122]; regulation of peptidyl-serine phosphorylation [GO:0033135]; regulation of synaptic transmission, GABAergic [GO:0032228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPR0-1; Sequence=Displayed; Name=2; IsoId=Q9UPR0-2; Sequence=VSP_025790, VSP_025791, VSP_025792; Note=No experimental confirmation available.; Name=3; IsoId=Q9UPR0-3; Sequence=VSP_025790; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=Predominantly localized to perinuclear areas in both myoblast and myotube C2C12 cells. {ECO:0000250}.


uniprotID: O00444
geneSymbol: PLK4
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 2N19;3COK;4JXF;4N7V;4N7Z;4N9J;4YUR;4YYP;5LHY;5LHZ;
length: 970
go: ENSG00000142731;
snps: rs34156294 rs35232579 rs35448573 rs3811740 rs35049837 rs34906574 rs56043017 rs17012739
name:
Serine/threonine-protein kinase PLK4 (EC 2.7.11.21) (Polo-like kinase 4) (PLK-4) (Serine/threonine-protein kinase 18) (Serine/threonine-protein kinase Sak)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytosol [GO:0005829]; deuterosome [GO:0098536]; nucleolus [GO:0005730]; XY body [GO:0001741]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; protein serine/threonine kinase activity [GO:0004674]; centriole replication [GO:0007099]; ciliary basal body-plasma membrane docking [GO:0097711]; de novo centriole assembly involved in multi-ciliated epithelial cell differentiation [GO:0098535]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of centriole replication [GO:0046601]; protein phosphorylation [GO:0006468]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; trophoblast giant cell differentiation [GO:0060707]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00444-1; Sequence=Displayed; Name=2; IsoId=O00444-2; Sequence=VSP_038117; Note=No experimental confirmation available.; Name=3; IsoId=O00444-3; Sequence=VSP_038116; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22020124, ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27796307}. Nucleus, nucleolus {ECO:0000250}. Cleavage furrow. Note=Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Associates with centrioles throughout the cell cycle. According to PubMed:16244668, it is not present at cleavage furrows.


uniprotID: Q96AD5
geneSymbol: PNPLA2
reactome: R-HSA-1482883;R-HSA-381426;R-HSA-8957275;
length: 504
go: ENSG00000177666;
snps: rs121918259 rs140612115 rs140201358 rs1138693
location: SUBCELLULAR LOCATION: Lipid droplet. Cell membrane; Single-pass type II membrane protein.
name:
Patatin-like phospholipase domain-containing protein 2 (EC 3.1.1.3) (Adipose triglyceride lipase) (Calcium-independent phospholipase A2) (Desnutrin) (IPLA2-zeta) (Pigment epithelium-derived factor) (TTS2.2) (Transport-secretion protein 2) (TTS2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; acylglycerol O-acyltransferase activity [GO:0016411]; lipoprotein lipase activity [GO:0004465]; triglyceride lipase activity [GO:0004806]; acylglycerol acyl-chain remodeling [GO:0036155]; cellular protein metabolic process [GO:0044267]; lipid droplet organization [GO:0034389]; lipid homeostasis [GO:0055088]; lipid storage [GO:0019915]; negative regulation of sequestering of triglyceride [GO:0010891]; positive regulation of triglyceride catabolic process [GO:0010898]; post-translational protein modification [GO:0043687]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AD5-1; Sequence=Displayed; Name=2; IsoId=Q96AD5-2; Sequence=VSP_026421; Note=No experimental confirmation available.; 


uniprotID: Q5VZY2
geneSymbol: PLPP4
reactome: R-HSA-2029485;
length: 271
go: ENSG00000203805;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase 4 (EC 3.1.3.4) (Phosphatidic acid phosphatase type 2 domain-containing protein 1A)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; blastocyst hatching [GO:0001835]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5VZY2-1; Sequence=Displayed; Name=2; IsoId=Q5VZY2-2; Sequence=VSP_025238; Note=No experimental confirmation available.; Name=3; IsoId=Q5VZY2-3; Sequence=VSP_025237; Note=No experimental confirmation available.; Name=4; IsoId=Q5VZY2-4; Sequence=VSP_025239, VSP_025240; Note=No experimental confirmation available.; 


uniprotID: P13796
geneSymbol: LCP1
reactome: R-HSA-8950505;
pdb: 2D85;5JOJ;5JOL;
name: Plastin-2 (L-plastin) (LC64P) (Lymphocyte cytosolic protein 1) (LCP-1)
length: 627
go: ENSG00000136167;
snps: rs4941543 rs17067725
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; actin filament bundle [GO:0032432]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; podosome [GO:0002102]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; GTPase binding [GO:0051020]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; actin filament bundle assembly [GO:0051017]; actin filament network formation [GO:0051639]; animal organ regeneration [GO:0031100]; cell migration [GO:0016477]; extracellular matrix disassembly [GO:0022617]; interleukin-12-mediated signaling pathway [GO:0035722]; positive regulation of podosome assembly [GO:0071803]; protein kinase A signaling [GO:0010737]; regulation of intracellular protein transport [GO:0033157]; T cell activation involved in immune response [GO:0002286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13796-1; Sequence=Displayed; Name=2; IsoId=P13796-2; Sequence=VSP_056450, VSP_056451; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16636079}. Cell junction {ECO:0000269|PubMed:17294403}. Cell projection {ECO:0000269|PubMed:16636079}. Cell projection, ruffle membrane {ECO:0000250|UniProtKB:Q61233, ECO:0000269|PubMed:16636079}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q61233}; Cytoplasmic side {ECO:0000250|UniProtKB:Q61233}. Note=Relocalizes to the immunological synapse between peripheral blood T-lymphocytes and antibody-presenting cells in response to costimulation through TCR/CD3 and CD2 or CD28 (PubMed:17294403). Associated with the actin cytoskeleton at membrane ruffles. Relocalizes to actin-rich cell projections upon serine phosphorylation (PubMed:16636079). {ECO:0000250|UniProtKB:Q61233, ECO:0000269|PubMed:16636079, ECO:0000269|PubMed:17294403}.


uniprotID: Q8N142
geneSymbol: ADSSL1
reactome: R-HSA-73817;
pdb: 2GJO;
length: 457
go: ENSG00000185100;
drug: DB03510;DB04418;DB04315;DB04137;DB02109;DB04566;DB00128;
snps: rs140614802
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03126, ECO:0000269|PubMed:15786719}.
name:
Adenylosuccinate synthetase isozyme 1 (AMPSase 1) (AdSS 1) (EC 6.3.4.4) (Adenylosuccinate synthetase, basic isozyme) (Adenylosuccinate synthetase, muscle isozyme) (M-type adenylosuccinate synthetase) (IMP--aspartate ligase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; actin filament binding [GO:0051015]; adenylosuccinate synthase activity [GO:0004019]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; magnesium ion binding [GO:0000287]; phosphate ion binding [GO:0042301]; protein homodimerization activity [GO:0042803]; 'de novo' AMP biosynthetic process [GO:0044208]; AMP biosynthetic process [GO:0006167]; aspartate metabolic process [GO:0006531]; cellular response to drug [GO:0035690]; cellular response to electrical stimulus [GO:0071257]; glutamine metabolic process [GO:0006541]; immune system process [GO:0002376]; IMP metabolic process [GO:0046040]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]; response to muscle activity [GO:0014850]; response to starvation [GO:0042594]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N142-1; Sequence=Displayed; Name=2; IsoId=Q8N142-2; Sequence=VSP_008421; Note=No experimental confirmation available.; 


uniprotID: Q8IVE3
geneSymbol: PLEKHH2
name: Pleckstrin homology domain-containing family H member 2
length: 1493
go: ENSG00000152527;
snps: rs10175843 rs17031297 rs2278358 rs17031368
sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; identical protein binding [GO:0042802]; negative regulation of actin filament depolymerization [GO:0030835]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVE3-1; Sequence=Displayed; Name=2; IsoId=Q8IVE3-2; Sequence=VSP_028573; Note=No experimental confirmation available.; Name=3; IsoId=Q8IVE3-3; Sequence=VSP_028574, VSP_028575; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22832517}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22832517}. Cell membrane {ECO:0000269|PubMed:22832517}; Peripheral membrane protein {ECO:0000269|PubMed:22832517}; Cytoplasmic side {ECO:0000269|PubMed:22832517}. Cell projection, lamellipodium {ECO:0000269|PubMed:22832517}. Note=Localizes to foot process of podocytes. Localization to peripheral regions of lamellipodia seems to be dependent on PI3K.


uniprotID: Q7Z736
geneSymbol: PLEKHH3
name: Pleckstrin homology domain-containing family H member 3 (PH domain-containing family H member 3)
length: 793
go: ENSG00000068137;
opentargets: cytoskeleton [GO:0005856]; extracellular space [GO:0005615]; signal transduction [GO:0007165]
snps: rs8071056
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z736-1; Sequence=Displayed; Name=2; IsoId=Q7Z736-2; Sequence=VSP_029392, VSP_029396, VSP_029398; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z736-3; Sequence=VSP_029395, VSP_029397; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z736-4; Sequence=VSP_029392, VSP_029393, VSP_029394; Note=No experimental confirmation available.; 


uniprotID: Q8IWE5
geneSymbol: PLEKHM2
pdb: 3CXB;3HW2;3ZFW;
length: 1019
go: ENSG00000116786;
snps: rs12091750
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15905402}.
name:
Pleckstrin homology domain-containing family M member 2 (PH domain-containing family M member 2) (Salmonella-induced filaments A and kinesin-interacting protein) (SifA and kinesin-interacting protein)

sequence:

opentargets:
endosome membrane [GO:0010008]; kinesin binding [GO:0019894]; Golgi organization [GO:0007030]; lysosome localization [GO:0032418]; positive regulation of membrane tubulation [GO:1903527]; regulation of protein localization [GO:0032880]


uniprotID: Q53GL0
geneSymbol: PLEKHO1
pdb: 3AA1;
length: 409
go: ENSG00000023902;
snps: rs2306235
name:
Pleckstrin homology domain-containing family O member 1 (PH domain-containing family O member 1) (C-Jun-binding protein) (JBP) (Casein kinase 2-interacting protein 1) (CK2-interacting protein 1) (CKIP-1) (Osteoclast maturation-associated gene 120 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; muscle cell projection membrane [GO:0036195]; nucleus [GO:0005634]; ruffle membrane [GO:0032587]; lamellipodium morphogenesis [GO:0072673]; myoblast fusion [GO:0007520]; myoblast migration [GO:0051451]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53GL0-1; Sequence=Displayed; Name=2; IsoId=Q53GL0-2; Sequence=VSP_029282; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10799509, ECO:0000269|PubMed:11827170, ECO:0000269|PubMed:14729969, ECO:0000269|PubMed:15254037, ECO:0000269|PubMed:16325375}; Peripheral membrane protein {ECO:0000305|PubMed:14729969}. Nucleus {ECO:0000269|PubMed:10799509, ECO:0000269|PubMed:11827170, ECO:0000269|PubMed:15706351}. Cytoplasm {ECO:0000269|PubMed:15706351}. Note=Predominantly localized to the plasma membrane through the binding to phosphatidylinositol 3-phosphate (PubMed:14729969). In C2C12 cells, with the absence of growth factor, it is found in the nucleus (PubMed:14729969). It rapidly translocates to the plasma membrane after insulin stimulation (PubMed:14729969). In response to TNF, it translocates from the plasma membrane to the cytoplasm and then to the nucleus accompanied by cleavage by caspase-3 (PubMed:15706351). However, the subcellular location is highly dependent of the cell type, and this explains why it is found exclusively at the plasma membrane, in some type of cells (Probable). {ECO:0000269|PubMed:14729969, ECO:0000269|PubMed:15706351, ECO:0000305}.


uniprotID: Q9ULL1
geneSymbol: PLEKHG1
name: Pleckstrin homology domain-containing family G member 1
length: 1385
go: ENSG00000120278;
snps: rs17080381 rs17080410 rs17054318 rs58786678
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; regulation of Rho protein signal transduction [GO:0035023]


uniprotID: Q58EX7
geneSymbol: PLEKHG4
length: 1191
go: ENSG00000196155;
snps: rs11860295 rs8044843 rs3868142 rs56077142 rs17680862
name:
Puratrophin-1 (Pleckstrin homology domain-containing family G member 4) (PH domain-containing family G member 4) (Purkinje cell atrophy-associated protein 1)

sequence:

opentargets:
Rho guanyl-nucleotide exchange factor activity [GO:0005089]; activation of GTPase activity [GO:0090630]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q58EX7-1; Sequence=Displayed; Name=2; IsoId=Q58EX7-2; Sequence=VSP_017329; Note=No experimental confirmation available.; Name=3; Synonyms=short; IsoId=Q58EX7-3; Sequence=VSP_017330, VSP_017331; 


uniprotID: Q8NG27
geneSymbol: PJA1
reactome: R-HSA-983168;
pdb: 2L0B;
length: 643
go: ENSG00000181191;
snps: rs5937160 rs11539157
name:
E3 ubiquitin-protein ligase Praja-1 (Praja1) (EC 2.3.2.27) (RING finger protein 70) (RING-type E3 ubiquitin transferase Praja-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; protein catabolic process [GO:0030163]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NG27-1; Sequence=Displayed; Name=2; Synonyms=PJA1-beta, Praja1-beta; IsoId=Q8NG27-2; Sequence=VSP_007518; Note=No experimental confirmation available. PubMed:12036302 reported that isoform 2 arises by alternative initiation.; Name=3; IsoId=Q8NG27-3; Sequence=VSP_046995; Note=Gene prediction based on EST data.; 


uniprotID: Q99959
geneSymbol: PKP2
reactome: R-HSA-6805567;R-HSA-6809371;
pdb: 3TT9;
name: Plakophilin-2
length: 881
go: ENSG00000057294;
sequence:

opentargets:
adherens junction [GO:0005912]; cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; desmosome [GO:0030057]; integral component of membrane [GO:0016021]; intercalated disc [GO:0014704]; intermediate filament [GO:0005882]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; alpha-catenin binding [GO:0045294]; cadherin binding [GO:0045296]; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication [GO:0086083]; intermediate filament binding [GO:0019215]; ion channel binding [GO:0044325]; protein kinase C binding [GO:0005080]; protein-containing complex scaffold activity [GO:0032947]; sodium channel regulator activity [GO:0017080]; adherens junction maintenance [GO:0034334]; bundle of His cell-Purkinje myocyte adhesion involved in cell communication [GO:0086073]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; cell-cell signaling involved in cardiac conduction [GO:0086019]; cornification [GO:0070268]; desmosome assembly [GO:0002159]; heart development [GO:0007507]; intermediate filament bundle assembly [GO:0045110]; keratinization [GO:0031424]; maintenance of animal organ identity [GO:0048496]; positive regulation of sodium ion transport [GO:0010765]; protein localization to plasma membrane [GO:0072659]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]; ventricular cardiac muscle cell action potential [GO:0086005]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

snps:
rs143004808 rs146708884 rs730880179 rs199601548 rs75909145 rs1201224837 rs781739949 rs150821281 rs139139859 rs1041783952 rs201944276 rs139851304 rs1046116 rs200586695 rs397516990 rs111450489 rs149930872 rs146882581 rs147240502 rs146102241 rs1060501186 rs1060501183 rs1319690519 rs1426480515 rs1462688980 rs794729098 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=B; IsoId=Q99959-1; Sequence=Displayed; Note=Undetected in heart.; Name=1; Synonyms=A; IsoId=Q99959-2; Sequence=VSP_006736; Note=Major isoform in heart.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22781308}. Cell junction, desmosome {ECO:0000269|PubMed:19533476, ECO:0000269|PubMed:22781308}. Note=Nuclear and associated with desmosomes.


uniprotID: Q9NWT1
geneSymbol: PAK1IP1
length: 392
go: ENSG00000111845;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
p21-activated protein kinase-interacting protein 1 (PAK/PLC-interacting protein 1) (hPIP1) (PAK1-interacting protein 1) (WD repeat-containing protein 84)

sequence:

opentargets:
nucleolus [GO:0005730]; cell proliferation [GO:0008283]; negative regulation of signal transduction [GO:0009968]; regulation of signal transduction by p53 class mediator [GO:1901796]; ribosomal large subunit biogenesis [GO:0042273]; roof of mouth development [GO:0060021]


uniprotID: Q99569
geneSymbol: PKP4
reactome: R-HSA-6805567;R-HSA-6809371;
name: Plakophilin-4 (p0071)
length: 1192
go: ENSG00000144283;
sequence:

opentargets:
cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; desmosome [GO:0030057]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; spindle midzone [GO:0051233]; spindle pole [GO:0000922]; cadherin binding [GO:0045296]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; cell-cell signaling [GO:0007267]; cornification [GO:0070268]; keratinization [GO:0031424]; positive regulation of cytokinesis [GO:0032467]; positive regulation of GTPase activity [GO:0043547]; regulation of cell adhesion [GO:0030155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q99569-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q99569-2; Sequence=VSP_006737; 

location:
SUBCELLULAR LOCATION: Cell junction, desmosome {ECO:0000269|PubMed:17115030}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:17115030}. Midbody {ECO:0000269|PubMed:17115030}. Cell membrane {ECO:0000269|PubMed:17115030}; Peripheral membrane protein {ECO:0000269|PubMed:17115030}. Note=Associated with the pericentrosomal region in interphase and with spindle poles during mitosis. In anaphase, during chromosome segregation, is recruited to the central microtubule bundle, focussed at the spindle midzone and ultimately localizes to the midbody at cytokinesis. Constituent of the midbody cytoskeletal matrix. Colocalized with desmoplakin at desmosomal junctional plaques in cultured epithelial cells.


uniprotID: Q8TCW9
geneSymbol: PROKR1
reactome: R-HSA-375276;R-HSA-416476;
length: 393
go: ENSG00000169618;ENSG00000169621;
snps: rs7570797
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Prokineticin receptor 1 (PK-R1) (G-protein coupled receptor 73) (G-protein coupled receptor ZAQ) (GPR73a)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide Y receptor activity [GO:0004983]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q8NFJ6
geneSymbol: PROKR2
reactome: R-HSA-375276;R-HSA-416476;
length: 384
go: ENSG00000101292;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18826963}; Multi-pass membrane protein.
name:
Prokineticin receptor 2 (PK-R2) (G-protein coupled receptor 73-like 1) (G-protein coupled receptor I5E) (GPR73b) (GPRg2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; neuropeptide Y receptor activity [GO:0004983]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]

snps:
rs141090506 rs74315418 rs202203360 rs138672528 rs368732206 rs751875578 rs74315416 rs201835496 rs376239580 rs200755554 rs74315417 rs376142095 rs78861628 rs149992595 rs74315419 rs117106081 rs371564610 rs755562438 rs375036628 


uniprotID: Q9HBJ0
geneSymbol: PLAC1
name: Placenta-specific protein 1
length: 212
go: ENSG00000170965;
opentargets: extracellular region [GO:0005576]; placenta development [GO:0001890]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q6P1J6
geneSymbol: PLB1
reactome: R-HSA-1482788;R-HSA-975634;
length: 1458
go: ENSG00000163803;
snps: rs6753929 rs11681826 rs10201128 rs7601771 rs34289907 rs2199619
name:
Phospholipase B1, membrane-associated (Phospholipase B) (hPLB) (Phospholipase B/lipase) (PLB/LIP) [Includes: Phospholipase A2 (EC 3.1.1.4); Lysophospholipase (EC 3.1.1.5)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; lysophospholipase activity [GO:0004622]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; retinyl-palmitate esterase activity [GO:0050253]; lipid catabolic process [GO:0016042]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phospholipid metabolic process [GO:0006644]; positive regulation of acrosome reaction [GO:2000344]; retinoid metabolic process [GO:0001523]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6P1J6-1; Sequence=Displayed; Name=2; IsoId=Q6P1J6-2; Sequence=VSP_032226, VSP_032231, VSP_032232; Name=3; IsoId=Q6P1J6-3; Sequence=VSP_032227, VSP_032228; Name=4; IsoId=Q6P1J6-4; Sequence=VSP_032229, VSP_032230; Note=No experimental confirmation available.; Name=5; IsoId=Q6P1J6-5; Sequence=VSP_032225; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Present in the intestinal brush border membranes. {ECO:0000250}.


uniprotID: Q9P212
geneSymbol: PLCE1
reactome: R-HSA-1855204;
pdb: 2BYE;2BYF;2C5L;
length: 2302
go: ENSG00000138193;
snps: rs17508082 rs17417407 rs121912605 rs2274224 rs3765524 rs2274223
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 (EC 3.1.4.11) (Pancreas-enriched phospholipase C) (Phosphoinositide phospholipase C-epsilon-1) (Phospholipase C-epsilon-1) (PLC-epsilon-1)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; enzyme binding [GO:0019899]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; Ras GTPase binding [GO:0017016]; activation of MAPK activity [GO:0000187]; calcium-mediated signaling [GO:0019722]; cell proliferation [GO:0008283]; cytoskeleton organization [GO:0007010]; diacylglycerol biosynthetic process [GO:0006651]; epidermal growth factor receptor signaling pathway [GO:0007173]; glomerulus development [GO:0032835]; heart development [GO:0007507]; inositol phosphate metabolic process [GO:0043647]; inositol phosphate-mediated signaling [GO:0048016]; lipid catabolic process [GO:0016042]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; Ras protein signal transduction [GO:0007265]; regulation of cell growth [GO:0001558]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of protein kinase activity [GO:0045859]; regulation of Ras protein signal transduction [GO:0046578]; regulation of smooth muscle contraction [GO:0006940]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PLCepsilon1a; IsoId=Q9P212-1; Sequence=Displayed; Name=2; Synonyms=PLCepsilon1b; IsoId=Q9P212-2; Sequence=VSP_021335, VSP_021336; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane. Golgi apparatus membrane. Note=Recruited to plasma membrane by activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Isoform 1 and isoform 2 associates with Golgi membranes.


uniprotID: Q96N28
geneSymbol: PRELID3A
reactome: R-HSA-6803204;
pdb: 4XZV;
name: PRELI domain containing protein 3A (Protein slowmo homolog 1)
length: 172
go: ENSG00000141391;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:
MKIWSSEHVFGHPWDTVIQAAMRKYPNPMNPSVLGVDVLQRRVDGRGRLHSLRLLSTEWGLPSLVRAILGTSRTLTYIREHSVVDPVEKKMELCSTNITLTNLVSVNERLVYTPHPENPEMTVLTQEAIITVKGISLGSYLESLMANTISSNAKKGWAAIEWIIEHSESAVS

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96N28-1; Sequence=Displayed; Name=2; IsoId=Q96N28-2; Sequence=VSP_056666; Note=No experimental confirmation available.; 


uniprotID: Q8IV08
geneSymbol: PLD3
reactome: R-HSA-1483148;R-HSA-2029485;
length: 490
go: ENSG00000105223;
name:
Phospholipase D3 (PLD 3) (EC 3.1.4.4) (Choline phosphatase 3) (HindIII K4L homolog) (Hu-K4) (Phosphatidylcholine-hydrolyzing phospholipase D3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; N-acylphosphatidylethanolamine-specific phospholipase D activity [GO:0070290]; phospholipase D activity [GO:0004630]; lipid catabolic process [GO:0016042]

snps:
rs142070038 rs138674695 rs374184677 rs1326374111 rs765630414 rs145999145 rs757965784 rs746715924 rs144312764 rs200274020 rs368737000 rs146083475 rs537053537 rs370488565 rs745463234 rs986006936 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15794758}; Single-pass type II membrane protein {ECO:0000269|PubMed:15794758}.


uniprotID: Q96BZ4
geneSymbol: PLD4
reactome: R-HSA-1483148;R-HSA-1855204;R-HSA-2029485;
length: 506
go: ENSG00000166428;
snps: rs894037 rs2841280 rs3803295
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Phospholipase D4 (PLD 4) (EC 3.1.4.4) (Choline phosphatase 4) (Phosphatidylcholine-hydrolyzing phospholipase D4)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; phagocytic vesicle [GO:0045335]; trans-Golgi network membrane [GO:0032588]; N-acylphosphatidylethanolamine-specific phospholipase D activity [GO:0070290]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase D activity [GO:0004630]; hematopoietic progenitor cell differentiation [GO:0002244]; inositol phosphate metabolic process [GO:0043647]; lipid catabolic process [GO:0016042]; phagocytosis [GO:0006909]


uniprotID: Q6P4A8
geneSymbol: PLBD1
reactome: R-HSA-1482788;R-HSA-1482839;R-HSA-1482922;R-HSA-1483115;
length: 553
go: ENSG00000121316;
snps: rs7957558 rs2287541 rs1600
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000250}.
name:
Phospholipase B-like 1 (EC 3.1.1.-) (LAMA-like protein 1) (Lamina ancestor homolog 1) (Phospholipase B domain-containing protein 1) [Cleaved into: Phospholipase B-like 1 chain A; Phospholipase B-like 1 chain B; Phospholipase B-like 1 chain C]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; lysosome [GO:0005764]; lysophospholipase activity [GO:0004622]; phospholipase A2 activity [GO:0004623]; lipid catabolic process [GO:0016042]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phospholipid metabolic process [GO:0006644]


uniprotID: Q8N7P1
geneSymbol: PLD5
length: 536
go: ENSG00000180287;
opentargets: integral component of membrane [GO:0016021]; catalytic activity [GO:0003824]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Inactive phospholipase D5 (Inactive PLD 5) (Inactive choline phosphatase 5) (Inactive phosphatidylcholine-hydrolyzing phospholipase D5) (PLDc)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N7P1-1; Sequence=Displayed; Name=2; IsoId=Q8N7P1-2; Sequence=VSP_025725; Note=No experimental confirmation available.; Name=3; IsoId=Q8N7P1-3; Sequence=VSP_025724; Name=4; IsoId=Q8N7P1-4; Sequence=VSP_025726, VSP_025727; 


uniprotID: O15120
geneSymbol: AGPAT2
reactome: R-HSA-1483166;R-HSA-6798695;
length: 278
go: ENSG00000169692;
snps: rs797045222 rs104894100 rs145975461
name:
1-acyl-sn-glycerol-3-phosphate acyltransferase beta (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 2) (1-AGP acyltransferase 2) (1-AGPAT 2) (Lysophosphatidic acid acyltransferase beta) (LPAAT-beta)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; CDP-diacylglycerol biosynthetic process [GO:0016024]; epidermis development [GO:0008544]; neutrophil degranulation [GO:0043312]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid metabolic process [GO:0006644]; positive regulation of cytokine production [GO:0001819]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15120-1; Sequence=Displayed; Name=2; IsoId=O15120-2; Sequence=VSP_005071; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21873652}; Multi-pass membrane protein {ECO:0000269|PubMed:21873652}.


uniprotID: Q9BRC7
geneSymbol: PLCD4
reactome: R-HSA-1855204;
length: 762
go: ENSG00000115556;
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 (hPLCD4) (EC 3.1.4.11) (Phosphoinositide phospholipase C-delta-4) (Phospholipase C-delta-4) (PLC-delta-4)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; phosphatidylinositol phospholipase C activity [GO:0004435]; acrosome reaction [GO:0007340]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; phosphatidylinositol metabolic process [GO:0046488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRC7-1; Sequence=Displayed; Note=Acceptor splice site between exons 4 and 5 is non-canonical but conserved through species for that particular gene.; Name=2; Synonyms=PLCD4b; IsoId=Q9BRC7-2; Sequence=VSP_028501, VSP_028502; 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: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:15140260}. Endoplasmic reticulum {ECO:0000250}. Note=Localizes primarily to intracellular membranes mostly to the endoplasmic reticulum.


uniprotID: P02776
geneSymbol: PF4
reactome: R-HSA-114608;R-HSA-140875;R-HSA-202733;R-HSA-380108;R-HSA-418594;R-HSA-8936459;
pdb: 1DN3;1F9Q;1F9R;1F9S;1PFM;1PFN;1RHP;4R9W;4R9Y;4RAU;
length: 101
go: ENSG00000163737;
drug: DB00055;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:7644496}.
name:
Platelet factor 4 (PF-4) (C-X-C motif chemokine 4) (Iroplact) (Oncostatin-A) [Cleaved into: Platelet factor 4, short form (Endothelial cell growth inhibitor)]

sequence:
MSSAAGFCASRPGLLFLGLLLLPLVVAFASAEAEEDGDLQCLCVKTTSQVRPRHITSLEVIKAGPHCPTAQLIATLKNGRKICLDLQAPLYKKIIKKLLES

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; other organism cytoplasm [GO:0097679]; platelet alpha granule lumen [GO:0031093]; symbiont-containing vacuole membrane [GO:0020005]; chemokine activity [GO:0008009]; CXCR3 chemokine receptor binding [GO:0048248]; heparin binding [GO:0008201]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; cytokine-mediated signaling pathway [GO:0019221]; defense response to protozoan [GO:0042832]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing by host of symbiont cells [GO:0051873]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cytolysis [GO:0045918]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of megakaryocyte differentiation [GO:0045653]; negative regulation of MHC class II biosynthetic process [GO:0045347]; neutrophil chemotaxis [GO:0030593]; platelet activation [GO:0030168]; platelet degranulation [GO:0002576]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of gene expression [GO:0010628]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of cell proliferation [GO:0042127]; regulation of megakaryocyte differentiation [GO:0045652]


uniprotID: Q9NYT0
geneSymbol: PLEK2
pdb: 1X1G;
name: Pleckstrin-2
length: 353
go: ENSG00000100558;
snps: rs34300264
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; lamellipodium membrane [GO:0031258]; plasma membrane [GO:0005886]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; actin cytoskeleton reorganization [GO:0031532]; intracellular signal transduction [GO:0035556]; positive regulation of plasma membrane bounded cell projection assembly [GO:0120034]

location:
SUBCELLULAR LOCATION: Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton.


uniprotID: O60240
geneSymbol: PLIN1
reactome: R-HSA-163560;R-HSA-381340;
name: Perilipin-1 (Lipid droplet-associated protein)
length: 522
go: ENSG00000166819;
snps: rs6496589 rs17852910 rs58361219 rs8179071
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; lipid droplet [GO:0005811]; lipid binding [GO:0008289]; lipid catabolic process [GO:0016042]; lipid metabolic process [GO:0006629]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:23399566}. Lipid droplet {ECO:0000269|PubMed:23399566, ECO:0000305|PubMed:26357594}. Note=Lipid droplet surface-associated. {ECO:0000269|PubMed:23399566}.


uniprotID: Q99541
geneSymbol: PLIN2
reactome: R-HSA-1989781;
name: Perilipin-2 (Adipophilin) (Adipose differentiation-related protein) (ADRP)
length: 437
go: ENSG00000147872;
snps: rs35568725
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; lipid droplet [GO:0005811]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; lipid storage [GO:0019915]; long-chain fatty acid transport [GO:0015909]; regulation of lipid metabolic process [GO:0019216]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Lipid droplet {ECO:0000305|PubMed:26357594}.


uniprotID: O60664
geneSymbol: PLIN3
reactome: R-HSA-163560;R-HSA-6811440;
length: 434
go: ENSG00000105355;
drug: DB01279;DB01271;
snps: rs8289 rs9973235
name:
Perilipin-3 (47 kDa mannose 6-phosphate receptor-binding protein) (47 kDa MPR-binding protein) (Cargo selection protein TIP47) (Mannose-6-phosphate receptor-binding protein 1) (Placental protein 17) (PP17)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; lipid droplet [GO:0005811]; membrane [GO:0016020]; transport vesicle [GO:0030133]; cadherin binding [GO:0045296]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60664-1; Sequence=Displayed; Note=PP17b.; Name=2; IsoId=O60664-2; Sequence=VSP_004664; Note=PP17a.; Name=3; IsoId=O60664-3; Sequence=VSP_040325; Name=4; IsoId=O60664-4; Sequence=VSP_047038; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15545278, ECO:0000269|PubMed:26357594, ECO:0000269|PubMed:9590177}. Endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Lipid droplet {ECO:0000305}. Note=Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails. {ECO:0000305}.


uniprotID: Q00G26
geneSymbol: PLIN5
name: Perilipin-5 (Lipid storage droplet protein 5)
length: 463
go: ENSG00000214456;
snps: rs10407239 rs1610090 rs1062223
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lipid droplet [GO:0005811]; mitochondrion [GO:0005739]; identical protein binding [GO:0042802]; lipase binding [GO:0035473]; lipid droplet organization [GO:0034389]; lipid storage [GO:0019915]; mitochondrion localization [GO:0051646]; negative regulation of fatty acid beta-oxidation [GO:0031999]; negative regulation of lipase activity [GO:0060192]; negative regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035359]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of triglyceride catabolic process [GO:0010897]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of lipase activity [GO:0060193]; positive regulation of lipid storage [GO:0010884]; positive regulation of sequestering of triglyceride [GO:0010890]; positive regulation of triglyceride biosynthetic process [GO:0010867]

location:
SUBCELLULAR LOCATION: Lipid droplet {ECO:0000269|PubMed:17234449}. Cytoplasm {ECO:0000250|UniProtKB:Q8BVZ1}. Mitochondrion {ECO:0000250|UniProtKB:M0R7Z9}. Note=Lipid droplet surface-associated. Exchanges between lipid droplets and the cytoplasm. {ECO:0000250|UniProtKB:Q8BVZ1}.


uniprotID: Q32ZL2
geneSymbol: PLPPR5
reactome: R-HSA-419408;
length: 321
go: ENSG00000117598;
name:
Phospholipid phosphatase-related protein type 5 (EC 3.1.3.-) (Lipid phosphate phosphatase-related protein type 5) (Phosphatidic acid phosphatase type 2d) (Plasticity-related gene 5 protein) (PRG-5)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PAP2d_v1; IsoId=Q32ZL2-1; Sequence=Displayed; Name=2; Synonyms=PAP2d_v2; IsoId=Q32ZL2-2; Sequence=VSP_031828; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8BJ52}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8BJ52}.


uniprotID: Q496M5
geneSymbol: PLK5
name: Inactive serine/threonine-protein kinase PLK5 (Polo-like kinase 5) (PLK-5)
length: 336
go: ENSG00000185988;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:21245385}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to growth factor stimulus [GO:0071363]; defense response to tumor cell [GO:0002357]; positive regulation of neuron projection development [GO:0010976]; regulation of apoptotic process [GO:0042981]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q496M5-1; Sequence=Displayed; Name=2; IsoId=Q496M5-2; Sequence=VSP_023654; Note=No experimental confirmation available.; 


uniprotID: Q13835
geneSymbol: PKP1
reactome: R-HSA-351906;R-HSA-6798695;R-HSA-6805567;R-HSA-6809371;
pdb: 1XM9;
name: Plakophilin-1 (Band 6 protein) (B6P)
length: 747
go: ENSG00000081277;
snps: rs34626929 rs34704938 rs35507614 rs1626370 rs10920171
location: SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cell junction, desmosome.; SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; desmosome [GO:0030057]; ficolin-1-rich granule membrane [GO:0101003]; intermediate filament [GO:0005882]; intracellular membrane-bounded organelle [GO:0043231]; messenger ribonucleoprotein complex [GO:1990124]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; intermediate filament binding [GO:0019215]; lamin binding [GO:0005521]; structural constituent of epidermis [GO:0030280]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; cornification [GO:0070268]; intermediate filament bundle assembly [GO:0045110]; keratinization [GO:0031424]; negative regulation of mRNA catabolic process [GO:1902373]; neutrophil degranulation [GO:0043312]; positive regulation of gene expression [GO:0010628]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=1b; IsoId=Q13835-1; Sequence=Displayed; Name=1; Synonyms=1a; IsoId=Q13835-2; Sequence=VSP_006735; 


uniprotID: Q9Y446
geneSymbol: PKP3
reactome: R-HSA-6805567;R-HSA-6809371;
name: Plakophilin-3
length: 797
go: ENSG00000184363;
sequence:

opentargets:
cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; desmosome [GO:0030057]; messenger ribonucleoprotein complex [GO:1990124]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; alpha-catenin binding [GO:0045294]; cadherin binding [GO:0045296]; cadherin binding involved in cell-cell adhesion [GO:0098641]; cell adhesion molecule binding [GO:0050839]; enzyme binding [GO:0019899]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; cornification [GO:0070268]; desmosome assembly [GO:0002159]; keratinization [GO:0031424]; negative regulation of mRNA catabolic process [GO:1902373]; positive regulation of gene expression [GO:0010628]; protein localization to plasma membrane [GO:0072659]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=PKP3a; IsoId=Q9Y446-1; Sequence=Displayed; Name=PKP3b; IsoId=Q9Y446-2; Sequence=VSP_053646; 

location:
SUBCELLULAR LOCATION: Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes.


uniprotID: A1L4L8
geneSymbol: PLAC8L1
name: PLAC8-like protein 1
length: 177
go: ENSG00000173261;
snps: rs12187913
sequence:
MNWFGSNFFRCPEDLSLLNIYSPLLSHMSSEDEHFISNLRGHVPASAVVKQPVRGASGRTTITAIVQTGGGWSTGLFSVCRDRRICFCGLFCPMCLECDIARHYGECLCWPLLPGSTFALRIGTRERHKIQGTLCEDWLAVHCCWAFSICQVARELKMRTSQVYEICAVPMTKDTLV


uniprotID: Q13018
geneSymbol: PLA2R1
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483166;
length: 1463
go: ENSG00000153246;
snps: rs12327936 rs13394676 rs965290 rs3749117 rs35771982 rs34916310 rs33985939 rs3828323
name:
Secretory phospholipase A2 receptor (PLA2-R) (PLA2R) (180 kDa secretory phospholipase A2 receptor) (C-type lectin domain family 13 member C) (M-type receptor) [Cleaved into: Soluble secretory phospholipase A2 receptor (Soluble PLA2-R) (Soluble PLA2R)]

sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; carbohydrate binding [GO:0030246]; phospholipase binding [GO:0043274]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; cytokine production [GO:0001816]; negative regulation of arachidonic acid secretion [GO:1900139]; negative regulation of phospholipase A2 activity [GO:1900138]; oxidative stress-induced premature senescence [GO:0090403]; positive regulation of arachidonic acid secretion [GO:0090238]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; reactive oxygen species metabolic process [GO:0072593]; receptor-mediated endocytosis [GO:0006898]; replicative senescence [GO:0090399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13018-1; Sequence=Displayed; Name=2; IsoId=Q13018-2; Sequence=VSP_029493, VSP_029494; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Soluble secretory phospholipase A2 receptor: Secreted {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q8WY50
geneSymbol: PLAC4
name: Placenta-specific protein 4
length: 150
sequence:
MKELLRLKHCKHLLTTHVHSPWTPSLTLTPSLLTLDTLTHPRHRHSSPWTPHSAPWTPSLTLDTFTHPDTLTHPGHPHSPWIPSLLTLDTLTHPGYPHSSPWTLSLTLTPSILTLDSLTPHPGLPHSSPWTPSLLILDTLTQPGHPHSSP


uniprotID: Q9NZF1
geneSymbol: PLAC8
reactome: R-HSA-6798695;
name: Placenta-specific gene 8 protein (Protein C15)
length: 115
go: ENSG00000145287;
sequence:
MQAQAPVVVVTQPGVGPGPAPQNSNWQTGMCDCFSDCGVCLCGTFCFPCLGCQVAADMNECCLCGTSVAMRTLYRTRYGIPGSICDDYMATLCCPHCTLCQIKRDINRRRAMRTF

opentargets:
azurophil granule lumen [GO:0035578]; extracellular region [GO:0005576]; chromatin binding [GO:0003682]; brown fat cell differentiation [GO:0050873]; defense response to bacterium [GO:0042742]; negative regulation of apoptotic process [GO:0043066]; negative regulation of multicellular organism growth [GO:0040015]; neutrophil degranulation [GO:0043312]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to cold [GO:0009409]


uniprotID: Q9UM63
geneSymbol: PLAGL1
reactome: R-HSA-6804115;
length: 463
go: ENSG00000118495;
snps: rs35263016
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11313869, ECO:0000269|PubMed:18299245}.
name:
Zinc finger protein PLAGL1 (Lost on transformation 1) (LOT-1) (Pleiomorphic adenoma-like protein 1) (Tumor suppressor ZAC)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UM63-1; Sequence=Displayed; Name=2; Synonyms=ZACdelta2; IsoId=Q9UM63-2; Sequence=VSP_028123; 


uniprotID: Q9UPG8
geneSymbol: PLAGL2
name: Zinc finger protein PLAGL2 (Pleiomorphic adenoma-like protein 2)
length: 496
go: ENSG00000126003;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; chylomicron assembly [GO:0034378]; lipid metabolic process [GO:0006629]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; post-embryonic development [GO:0009791]


uniprotID: Q9NQ66
geneSymbol: PLCB1
length: 1216
go: ENSG00000182621;
snps: rs2076413
reactome:
R-HSA-112043;R-HSA-1855204;R-HSA-399997;R-HSA-4086398;R-HSA-416476;R-HSA-418217;R-HSA-434316;R-HSA-500657;

name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (EC 3.1.4.11) (PLC-154) (Phosphoinositide phospholipase C-beta-1) (Phospholipase C-I) (PLC-I) (Phospholipase C-beta-1) (PLC-beta-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; myelin sheath [GO:0043209]; nuclear chromatin [GO:0000790]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; postsynapse [GO:0098794]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; enzyme binding [GO:0019899]; GTPase activator activity [GO:0005096]; lamin binding [GO:0005521]; phosphatidylinositol phospholipase C activity [GO:0004435]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phospholipase C activity [GO:0004629]; protein homodimerization activity [GO:0042803]; activation of meiosis involved in egg activation [GO:0060466]; cerebral cortex development [GO:0021987]; fat cell differentiation [GO:0045444]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; G2/M transition of mitotic cell cycle [GO:0000086]; glutamate receptor signaling pathway [GO:0007215]; inositol phosphate metabolic process [GO:0043647]; insulin-like growth factor receptor signaling pathway [GO:0048009]; interleukin-1-mediated signaling pathway [GO:0070498]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-15-mediated signaling pathway [GO:0035723]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; memory [GO:0007613]; negative regulation of monocyte extravasation [GO:2000438]; negative regulation of transcription, DNA-templated [GO:0045892]; phosphatidylinositol metabolic process [GO:0046488]; positive regulation of acrosome reaction [GO:2000344]; positive regulation of CD24 biosynthetic process [GO:2000560]; positive regulation of developmental growth [GO:0048639]; positive regulation of embryonic development [GO:0040019]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of JNK cascade [GO:0046330]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of transcription, DNA-templated [GO:0045893]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; regulation of fertilization [GO:0080154]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of retrograde trans-synaptic signaling by endocanabinoid [GO:0099178]; signal transduction [GO:0007165]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q9NQ66-1; Sequence=Displayed; Name=B; IsoId=Q9NQ66-2; Sequence=VSP_004718; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.


uniprotID: Q9NRZ7
geneSymbol: AGPAT3
reactome: R-HSA-1483166;R-HSA-6811436;
length: 376
go: ENSG00000160216;
name:
1-acyl-sn-glycerol-3-phosphate acyltransferase gamma (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 3) (1-AGP acyltransferase 3) (1-AGPAT 3) (Lysophosphatidic acid acyltransferase gamma) (LPAAT-gamma)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; transferase activity, transferring acyl groups [GO:0016746]; CDP-diacylglycerol biosynthetic process [GO:0016024]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid biosynthetic process [GO:0008654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Gamma-1; IsoId=Q9NRZ7-1; Sequence=Displayed; Name=2; Synonyms=Gamma-2; IsoId=Q9NRZ7-2; Sequence=VSP_005072; Name=3; IsoId=Q9NRZ7-3; Sequence=VSP_013144; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20537980, ECO:0000269|PubMed:21173190}; Multi-pass membrane protein {ECO:0000269|PubMed:20537980}. Nucleus envelope.


uniprotID: P51178
geneSymbol: PLCD1
reactome: R-HSA-1855204;
length: 756
go: ENSG00000187091;
snps: rs933135
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 (EC 3.1.4.11) (Phosphoinositide phospholipase C-delta-1) (Phospholipase C-III) (PLC-III) (Phospholipase C-delta-1) (PLC-delta-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; GTPase activating protein binding [GO:0032794]; phosphatidylinositol phospholipase C activity [GO:0004435]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; angiogenesis [GO:0001525]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; labyrinthine layer blood vessel development [GO:0060716]; lipid catabolic process [GO:0016042]; phospholipid metabolic process [GO:0006644]; regulation of cell proliferation [GO:0042127]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51178-1; Sequence=Displayed; Name=2; IsoId=P51178-2; Sequence=VSP_042919; Note=No experimental confirmation available.; 


uniprotID: Q86YW0
geneSymbol: PLCZ1
reactome: R-HSA-1855204;
length: 608
go: ENSG00000139151;
snps: rs757326350 rs10505830
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 (EC 3.1.4.11) (Phosphoinositide phospholipase C-zeta-1) (Phospholipase C-zeta-1) (PLC-zeta-1) (Testis-development protein NYD-SP27)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; pronucleus [GO:0045120]; sperm head [GO:0061827]; calcium ion binding [GO:0005509]; phosphatidylinositol phospholipase C activity [GO:0004435]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-5-phosphate binding [GO:0010314]; calcium ion transport [GO:0006816]; egg activation [GO:0007343]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; multicellular organism development [GO:0007275]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in egg activation [GO:0060470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:12416999, ECO:0000269|PubMed:14697805, ECO:0000269|PubMed:14702039}; IsoId=Q86YW0-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q86YW0-2; Sequence=VSP_052862; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q86YW0-3; Sequence=VSP_035076; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8K4D7}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q8K4D7}. Note=Exhibits alternative cytoplasmic/nuclear localization during development. Translocates from the pronucleus into cytoplasm upon nuclear envelope breakdown for mitosis and localizes again to the pronucleus at interphase following meiosis and mitosis (By similarity). {ECO:0000250|UniProtKB:Q8K4D7}.


uniprotID: Q8N3E9
geneSymbol: PLCD3
reactome: R-HSA-1855204;
length: 789
go: ENSG00000161714;
snps: rs734921
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 (EC 3.1.4.11) (Phosphoinositide phospholipase C-delta-3) (Phospholipase C-delta-3) (PLC-delta-3)

sequence:

opentargets:
cleavage furrow [GO:0032154]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; phosphatidylinositol phospholipase C activity [GO:0004435]; angiogenesis [GO:0001525]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; labyrinthine layer blood vessel development [GO:0060716]; lipid catabolic process [GO:0016042]; regulation of cell proliferation [GO:0042127]

location:
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm. Cleavage furrow. Note=Localizes at the cleavage furrow during cytokinesis.


uniprotID: Q6UQ28
geneSymbol: PLET1
reactome: R-HSA-163125;
name: Placenta-expressed transcript 1 protein
length: 207
go: ENSG00000188771;
snps: rs2564872
sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell differentiation [GO:0030154]; negative regulation of cell-matrix adhesion [GO:0001953]; positive regulation of cell migration [GO:0030335]; wound healing, spreading of epidermal cells [GO:0035313]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}. Note=Localized at the apical membrane of the most differentiated keratinocytes of the outer root sheath (ORS), clustered mainly in planar regions of the plasma membrane at the base of microvilli. {ECO:0000250}.


uniprotID: P49763
geneSymbol: PGF
reactome: R-HSA-194313;R-HSA-195399;
pdb: 1FZV;1RV6;
name: Placenta growth factor (PlGF)
length: 221
go: ENSG00000119630;
drug: DB08885;
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; chemoattractant activity [GO:0042056]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; vascular endothelial growth factor receptor 3 binding [GO:0043185]; angiogenesis [GO:0001525]; animal organ regeneration [GO:0031100]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell differentiation [GO:0030154]; cell-cell signaling [GO:0007267]; cellular response to hormone stimulus [GO:0032870]; female pregnancy [GO:0007565]; induction of positive chemotaxis [GO:0050930]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of mast cell chemotaxis [GO:0060754]; positive regulation of protein phosphorylation [GO:0001934]; regulation of morphogenesis of a branching structure [GO:0060688]; response to drug [GO:0042493]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; sprouting angiogenesis [GO:0002040]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; vascular endothelial growth factor signaling pathway [GO:0038084]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=PlGF-3 {ECO:0000303|PubMed:9207183}; Synonyms=PlGF-203; IsoId=P49763-1; Sequence=Displayed; Name=PlGF-1 {ECO:0000303|PubMed:9207183}; Synonyms=PlGF-131; IsoId=P49763-2; Sequence=VSP_004644; Name=PlGF-2 {ECO:0000303|PubMed:8148155}; Synonyms=PlGF-152; IsoId=P49763-3; Sequence=VSP_004644, VSP_004645; Name=PlGF-4 {ECO:0000303|PubMed:14568677}; Synonyms=PlGF-224; IsoId=P49763-4; Sequence=VSP_004645; 

location:
SUBCELLULAR LOCATION: Secreted. Note=The three isoforms are secreted but PlGF-2 appears to remain cell attached unless released by heparin.


uniprotID: A6NEE1
geneSymbol: PLEKHD1
name: Pleckstrin homology domain-containing family D member 1 (PH domain-containing family D member 1)
length: 506
go: ENSG00000175985;
sequence:


uniprotID: Q96Q06
geneSymbol: PLIN4
name: Perilipin-4 (Adipocyte protein S3-12)
length: 1357
go: ENSG00000167676;
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; lipid droplet [GO:0005811]; plasma membrane [GO:0005886]

snps:
rs4807597 rs55901236 rs7260518 rs7256387 rs7256712 rs7255187 rs7255187 rs7255187 rs7259721 rs7251858 rs7250947 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96Q06-1; Sequence=Displayed; Name=2; IsoId=Q96Q06-2; Sequence=VSP_027278; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O88492}. Cytoplasm {ECO:0000250|UniProtKB:O88492}. Lipid droplet {ECO:0000250|UniProtKB:O88492}. Note=Nascent lipid droplet surface-associated; association with lipid droplets is triacylglycerol synthesis-dependent. {ECO:0000250|UniProtKB:O88492}.


uniprotID: Q02809
geneSymbol: PLOD1
reactome: R-HSA-1650814;
name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (EC 1.14.11.4) (Lysyl hydroxylase 1) (LH1)
length: 727
go: ENSG00000083444;
drug: DB00139;DB00126;
snps: rs7551068 rs34878020 rs7551175 rs2273285 rs121913553 rs199730384 rs121913551
sequence:

opentargets:
catalytic complex [GO:1902494]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; rough endoplasmic reticulum membrane [GO:0030867]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; procollagen-lysine 5-dioxygenase activity [GO:0008475]; protein homodimerization activity [GO:0042803]; cellular protein modification process [GO:0006464]; collagen fibril organization [GO:0030199]; collagen metabolic process [GO:0032963]; epidermis development [GO:0008544]; hydroxylysine biosynthetic process [GO:0046947]; oxidation-reduction process [GO:0055114]; peptidyl-lysine hydroxylation [GO:0017185]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02809-1; Sequence=Displayed; Name=2; IsoId=Q02809-2; Sequence=VSP_056300; Note=No experimental confirmation available.; 

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


uniprotID: Q9NRZ5
geneSymbol: AGPAT4
reactome: R-HSA-1483166;
length: 378
go: ENSG00000026652;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
1-acyl-sn-glycerol-3-phosphate acyltransferase delta (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 4) (1-AGP acyltransferase 4) (1-AGPAT 4) (Lysophosphatidic acid acyltransferase delta) (LPAAT-delta)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; transferase activity, transferring acyl groups [GO:0016746]; CDP-diacylglycerol biosynthetic process [GO:0016024]; macromolecule metabolic process [GO:0043170]; phosphatidic acid biosynthetic process [GO:0006654]; phospholipid biosynthetic process [GO:0008654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRZ5-1; Sequence=Displayed; Name=2; IsoId=Q9NRZ5-2; Sequence=VSP_056928, VSP_056929; Note=No experimental confirmation available.; 


uniprotID: Q9Y342
geneSymbol: PLLP
name: Plasmolipin (Plasma membrane proteolipid)
length: 182
go: ENSG00000102934;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MAEFPSKVSTRTSSPAQGAEASVSALRPDLGFVRSRLGALMLLQLVLGLLVWALIADTPYHLYPAYGWVMFVAVFLWLVTIVLFNLYLFQLHMKLYMVPWPLVLMIFNISATVLYITAFIACSAAVDLTSLRGTRPYNQRAAASFFACLVMIAYGVSAFFSYQAWRGVGSNAATSQMAGGYA

opentargets:
compact myelin [GO:0043218]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; structural constituent of myelin sheath [GO:0019911]; ion transport [GO:0006811]; myelination [GO:0042552]; response to wounding [GO:0009611]


uniprotID: O14495
geneSymbol: PLPP3
reactome: R-HSA-1660661;
length: 311
go: ENSG00000162407;
name:
Phospholipid phosphatase 3 (EC 3.1.3.4) (Lipid phosphate phosphohydrolase 3) (PAP2-beta) (Phosphatidate phosphohydrolase type 2b) (Phosphatidic acid phosphatase 2b) (PAP-2b) (PAP2b) (Vascular endothelial growth factor and type I collagen-inducible protein) (VCIP)

sequence:

opentargets:
adherens junction [GO:0005912]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; lipid phosphatase activity [GO:0042577]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; phosphoprotein phosphatase activity [GO:0004721]; sphingosine-1-phosphate phosphatase activity [GO:0042392]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion [GO:0044329]; canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration [GO:0044328]; canonical Wnt signaling pathway involved in positive regulation of wound healing [GO:0044330]; germ cell migration [GO:0008354]; homotypic cell-cell adhesion [GO:0034109]; lipid metabolic process [GO:0006629]; negative regulation of protein phosphorylation [GO:0001933]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; protein stabilization [GO:0050821]; regulation of Wnt signaling pathway [GO:0030111]; sphingolipid biosynthetic process [GO:0030148]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.


uniprotID: Q8NBV4
geneSymbol: PLPP7
length: 271
go: ENSG00000160539;
snps: rs2966332 rs11244366
name:
Inactive phospholipid phosphatase 7 (Phosphatidic acid phosphatase type 2 domain-containing protein 3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; negative regulation of myotube differentiation [GO:0010832]

location:
SUBCELLULAR LOCATION: Nucleus envelope. Endoplasmic reticulum membrane. Membrane; Multi-pass membrane protein. Note=Both the N- and C-terminal are exposed to the cytoplasm/nucleoplasm. {ECO:0000250}.


uniprotID: Q96GD0
geneSymbol: PDXP
pdb: 2CFR;2CFS;2CFT;2OYC;2P27;2P69;5GYN;
name: Pyridoxal phosphate phosphatase (PLP phosphatase) (EC 3.1.3.3) (EC 3.1.3.74) (Chronophin)
length: 296
go: ENSG00000241360;
drug: DB00114;
sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; lamellipodium membrane [GO:0031258]; ruffle membrane [GO:0032587]; heat shock protein binding [GO:0031072]; magnesium ion binding [GO:0000287]; phosphatase activity [GO:0016791]; phosphoprotein phosphatase activity [GO:0004721]; phosphoserine phosphatase activity [GO:0004647]; protein homodimerization activity [GO:0042803]; pyridoxal phosphatase activity [GO:0033883]; actin rod assembly [GO:0031247]; cellular response to ATP [GO:0071318]; dephosphorylation [GO:0016311]; positive regulation of actin filament depolymerization [GO:0030836]; protein dephosphorylation [GO:0006470]; pyridoxal phosphate catabolic process [GO:0032361]; regulation of cytokinesis [GO:0032465]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=CIN {ECO:0000303|PubMed:23223568}; IsoId=Q96GD0-1; Sequence=Displayed; Name=Long BGIN {ECO:0000303|PubMed:23223568}; IsoId=Q6ZT62-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a SH3BP1-PDXP fusion protein. Translation initiation occurs at a non-canonical CUG codon. {ECO:0000269|PubMed:23223568}; Name=Short BGIN {ECO:0000303|PubMed:23223568}; IsoId=Q6ZT62-2; Sequence=External; Note=Produced by alternative initiation at Met-73 of isoform long BGIN. {ECO:0000269|PubMed:23223568}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15580268}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15580268}. Cell projection, ruffle membrane {ECO:0000269|PubMed:15580268}; Peripheral membrane protein {ECO:0000269|PubMed:15580268}; Cytoplasmic side {ECO:0000269|PubMed:15580268}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:15580268}; Peripheral membrane protein {ECO:0000269|PubMed:15580268}; Cytoplasmic side {ECO:0000269|PubMed:15580268}. Cell membrane {ECO:0000269|PubMed:15580268}; Peripheral membrane protein {ECO:0000269|PubMed:15580268}; Cytoplasmic side {ECO:0000269|PubMed:15580268}. Note=Colocalizes with the actin cytoskeleton in membrane ruffles and lamellipodia. Diffusely distributed throughout the cytosol during pro-metaphase and metaphase. Detected at the dynamic cell poles during telophase. Detected at the cleavage furrow and contractile ring during cytokinesis. Transiently detected at the plasma membrane in late stages of cytokinesis. Detected at the midbody. {ECO:0000269|PubMed:15580268}.


uniprotID: P30520
geneSymbol: ADSS
reactome: R-HSA-73817;
pdb: 2V40;
length: 456
go: ENSG00000035687;
drug: DB00128;
snps: rs12134870
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Partially associated with particulate fractions.
name:
Adenylosuccinate synthetase isozyme 2 (AMPSase 2) (AdSS 2) (EC 6.3.4.4) (Adenylosuccinate synthetase, acidic isozyme) (Adenylosuccinate synthetase, liver isozyme) (L-type adenylosuccinate synthetase) (IMP--aspartate ligase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; adenylosuccinate synthase activity [GO:0004019]; GTP binding [GO:0005525]; magnesium ion binding [GO:0000287]; phosphate ion binding [GO:0042301]; 'de novo' AMP biosynthetic process [GO:0044208]; AMP biosynthetic process [GO:0006167]; aspartate metabolic process [GO:0006531]; cellular response to electrical stimulus [GO:0071257]; immune system process [GO:0002376]; IMP metabolic process [GO:0046040]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]; response to ammonium ion [GO:0060359]; response to purine-containing compound [GO:0014074]


uniprotID: P29590
geneSymbol: PML
reactome: R-HSA-3108214;R-HSA-3232142;R-HSA-6804758;R-HSA-877300;R-HSA-8934593;R-HSA-8948747;
pdb: 1BOR;2MVW;2MWX;4WJN;4WJO;5YUF;
length: 882
go: ENSG00000140464;
snps: rs5742915
name:
Protein PML (Promyelocytic leukemia protein) (RING finger protein 71) (Tripartite motif-containing protein 19)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; extrinsic component of endoplasmic reticulum membrane [GO:0042406]; heterochromatin [GO:0000792]; nuclear chromosome, telomeric region [GO:0000784]; nuclear matrix [GO:0016363]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; cobalt ion binding [GO:0050897]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; SMAD binding [GO:0046332]; SUMO binding [GO:0032183]; SUMO transferase activity [GO:0019789]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cell cycle arrest [GO:0007050]; cell fate commitment [GO:0045165]; cellular response to interleukin-4 [GO:0071353]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular senescence [GO:0090398]; circadian regulation of gene expression [GO:0032922]; common-partner SMAD protein phosphorylation [GO:0007182]; defense response to virus [GO:0051607]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; entrainment of circadian clock by photoperiod [GO:0043153]; extrinsic apoptotic signaling pathway [GO:0097191]; fibroblast migration [GO:0010761]; innate immune response [GO:0045087]; interferon-gamma-mediated signaling pathway [GO:0060333]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; maintenance of protein location in nucleus [GO:0051457]; myeloid cell differentiation [GO:0030099]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of telomerase activity [GO:0051974]; negative regulation of telomere maintenance via telomerase [GO:0032211]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of translation in response to oxidative stress [GO:0032938]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; negative regulation of viral release from host cell [GO:1902187]; PML body organization [GO:0030578]; positive regulation of apoptotic process involved in mammary gland involution [GO:0060058]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of histone deacetylation [GO:0031065]; positive regulation of protein localization to chromosome, telomeric region [GO:1904816]; positive regulation of telomere maintenance [GO:0032206]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein import into nucleus [GO:0006606]; protein stabilization [GO:0050821]; protein targeting [GO:0006605]; protein-containing complex assembly [GO:0065003]; regulation of calcium ion transport into cytosol [GO:0010522]; regulation of cell adhesion [GO:0030155]; regulation of circadian rhythm [GO:0042752]; regulation of double-strand break repair [GO:2000779]; regulation of protein phosphorylation [GO:0001932]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription, DNA-templated [GO:0006355]; response to cytokine [GO:0034097]; response to gamma radiation [GO:0010332]; response to hypoxia [GO:0001666]; response to UV [GO:0009411]; retinoic acid receptor signaling pathway [GO:0048384]; transforming growth factor beta receptor signaling pathway [GO:0007179]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=PML-1; Synonyms=PML-I, TRIM19alpha; IsoId=P29590-1; Sequence=Displayed; Name=PML-2; Synonyms=PML-II, TRIM19kappa; IsoId=P29590-8; Sequence=VSP_040595; Name=PML-3; Synonyms=PML-III; IsoId=P29590-9; Sequence=VSP_040596, VSP_040597; Name=PML-4; Synonyms=PML-IV, PML-X, TRIM19zeta; IsoId=P29590-5; Sequence=VSP_005744, VSP_005745; Name=PML-5; Synonyms=PML-2, PML-V, TRIM19beta; IsoId=P29590-2; Sequence=VSP_005739, VSP_005740; Name=PML-6; Synonyms=PML-3B, PML-VI, TRIM19epsilon; IsoId=P29590-4; Sequence=VSP_005742, VSP_005743; Name=PML-7; Synonyms=PML-VII, TRIM19theta; IsoId=P29590-10; Sequence=VSP_040591, VSP_040594; Name=PML-8; Synonyms=PML-2G, PML-IIG, TRIM19gamma; IsoId=P29590-3; Sequence=VSP_005741; Note=Non-canonical splice sites. Might alternatively represent a polymorphic variation.; Name=PML-11; Synonyms=PML-1A, PML-IA; IsoId=P29590-11; Sequence=VSP_040590; Note=No experimental confirmation available.; Name=PML-12; Synonyms=PML-4A, PML-IVA, TRIM19lambda; IsoId=P29590-12; Sequence=VSP_040590, VSP_005744, VSP_005745; Name=PML-13; Synonyms=PML-2A, PML-IIA; IsoId=P29590-13; Sequence=VSP_040590, VSP_040595; Name=PML-14; Synonyms=PML-6B, PML-VIB, TRIM19eta, TRIM19iota; IsoId=P29590-14; Sequence=VSP_040592, VSP_040593; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleoplasm. Cytoplasm {ECO:0000269|PubMed:27211601}. Nucleus, PML body {ECO:0000269|PubMed:20501696, ECO:0000269|PubMed:27211601}. Nucleus, nucleolus. Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Isoform PML-1 can shuttle between the nucleus and cytoplasm. Isoform PML-2, isoform PML-3, isoform PML-4, isoform PML-5 and isoform PML-6 are nuclear isoforms whereas isoform PML-7 and isoform PML-14 lacking the nuclear localization signal are cytoplasmic isoforms. Detected in the nucleolus after DNA damage. Acetylation at Lys-487 is essential for its nuclear localization. Within the nucleus, most of PML is expressed in the diffuse nuclear fraction of the nucleoplasm and only a small fraction is found in the matrix-associated nuclear bodies (PML-NBs). The transfer of PML from the nucleoplasm to PML-NBs depends on its phosphorylation and sumoylation. The B1 box and the RING finger are also required for the localization in PML-NBs. Also found in specific membrane structures termed mitochondria-associated membranes (MAMs) which connect the endoplasmic reticulum (ER) and the mitochondria. Sequestered in the cytoplasm by interaction with rabies virus phosphoprotein.


uniprotID: Q15126
geneSymbol: PMVK
reactome: R-HSA-191273;R-HSA-2426168;
pdb: 3CH4;
name: Phosphomevalonate kinase (PMKase) (hPMK) (EC 2.7.4.2)
length: 192
go: ENSG00000163344;
snps: rs16836525
sequence:
MAPLGGAPRLVLLFSGKRKSGKDFVTEALQSRLGADVCAVLRLSGPLKEQYAQEHGLNFQRLLDTSTYKEAFRKDMIRWGEEKRQADPGFFCRKIVEGISQPIWLVSDTRRVSDIQWFREAYGAVTQTVRVVALEQSRQQRGWVFTPGVDDAESECGLDNFGDFDWVIENHGVEQRLEEQLENLIEFIRSRL

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; phosphomevalonate kinase activity [GO:0004631]; cholesterol biosynthetic process [GO:0006695]; isopentenyl diphosphate biosynthetic process, mevalonate pathway [GO:0019287]; regulation of cholesterol biosynthetic process [GO:0045540]; response to cholesterol [GO:0070723]; sterol biosynthetic process [GO:0016126]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10191291, ECO:0000269|PubMed:27052676}.


uniprotID: Q8TCS8
geneSymbol: PNPT1
pdb: 3U1K;5ZF6;
length: 783
go: ENSG00000138035;
snps: rs782572 rs34928857 rs397514598 rs397514599 rs7594497
name:
Polyribonucleotide nucleotidyltransferase 1, mitochondrial (EC 2.7.7.8) (3'-5' RNA exonuclease OLD35) (PNPase old-35) (Polynucleotide phosphorylase 1) (PNPase 1) (Polynucleotide phosphorylase-like protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; mitochondrial degradosome [GO:0045025]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; polysomal ribosome [GO:0042788]; 3'-5'-exoribonuclease activity [GO:0000175]; miRNA binding [GO:0035198]; poly(G) binding [GO:0034046]; poly(U) RNA binding [GO:0008266]; polyribonucleotide nucleotidyltransferase activity [GO:0004654]; RNA binding [GO:0003723]; cellular response to interferon-beta [GO:0035458]; cellular response to oxidative stress [GO:0034599]; liver regeneration [GO:0097421]; mitochondrial mRNA catabolic process [GO:0000958]; mitochondrial mRNA polyadenylation [GO:0097222]; mitochondrial RNA 3'-end processing [GO:0000965]; mitochondrial RNA 5'-end processing [GO:0000964]; mitochondrial RNA catabolic process [GO:0000957]; mitochondrial RNA processing [GO:0000963]; mitochondrion morphogenesis [GO:0070584]; mitotic cell cycle arrest [GO:0071850]; mRNA catabolic process [GO:0006402]; negative regulation of growth [GO:0045926]; nuclear polyadenylation-dependent mRNA catabolic process [GO:0071042]; positive regulation of miRNA catabolic process [GO:2000627]; positive regulation of mitochondrial RNA catabolic process [GO:0000962]; positive regulation of mRNA catabolic process [GO:0061014]; protein homooligomerization [GO:0051260]; protein homotrimerization [GO:0070207]; regulation of cellular respiration [GO:0043457]; regulation of cellular senescence [GO:2000772]; response to cAMP [GO:0051591]; response to growth hormone [GO:0060416]; RNA catabolic process [GO:0006401]; RNA import into mitochondrion [GO:0035927]; RNA polyadenylation [GO:0043631]; rRNA import into mitochondrion [GO:0035928]

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion. Mitochondrion intermembrane space; Peripheral membrane protein.


uniprotID: Q8N490
geneSymbol: PNKD
length: 385
go: ENSG00000127838;
snps: rs121434512 rs121434511
name:
Probable hydrolase PNKD (EC 3.-.-.-) (Myofibrillogenesis regulator 1) (MR-1) (Paroxysmal nonkinesiogenic dyskinesia protein) (Trans-activated by hepatitis C virus core protein 2)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; hydroxyacylglutathione hydrolase activity [GO:0004416]; metal ion binding [GO:0046872]; methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione [GO:0019243]; negative regulation of neurotransmitter secretion [GO:0046929]; neuromuscular process controlling posture [GO:0050884]; regulation of dopamine metabolic process [GO:0042053]; regulation of synaptic transmission, dopaminergic [GO:0032225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=MR-1L; IsoId=Q8N490-1; Sequence=Displayed; Name=2; Synonyms=MR-1S; IsoId=Q8N490-2; Sequence=VSP_027739, VSP_027740; Name=3; Synonyms=MR-1M; IsoId=Q8N490-3; Sequence=VSP_027736; Name=4; IsoId=Q8N490-4; Sequence=VSP_027737, VSP_027738; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane; Peripheral membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Mitochondrion.


uniprotID: P63128
geneSymbol: ERVK-9
length: 1117
name:
Endogenous retrovirus group K member 9 Pol protein (HERV-K(C6) Gag-Pol protein) (HERV-K109 Gag-Pol protein) (HERV-K_6q14.1 provirus ancestral Gag-Pol polyprotein) [Includes: Protease (EC 3.4.23.50) (PR) (Retropepsin); Reverse transcriptase/ribonuclease H (EC 2.7.7.49) (EC 2.7.7.7) (EC 3.1.26.4) (p66 RT)]

sequence:

opentargets:
plasma membrane [GO:0005886]; aspartic-type endopeptidase activity [GO:0004190]; DNA-directed DNA polymerase activity [GO:0003887]; RNA binding [GO:0003723]; RNA-directed DNA polymerase activity [GO:0003964]; RNA-DNA hybrid ribonuclease activity [GO:0004523]; structural molecule activity [GO:0005198]; zinc ion binding [GO:0008270]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=2;  Comment=This protein is synthesized as a Gag polypeptide and as a Gag-Pro-Pol polyprotein. The later is the precursor of the Pro and Pol proteins. It is thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=P63128-1; Sequence=Displayed; Name=2; IsoId=P63126-1; Sequence=External; Note=Gag-Pro polyprotein is produced from conventional translation of the gag ORF.; 

location:
SUBCELLULAR LOCATION: Cell membrane. Note=Cytoplasmic membrane (in a transfection system). {ECO:0000250}.


uniprotID: O60733
geneSymbol: PLA2G6
reactome: R-HSA-1482788;R-HSA-1482798;R-HSA-1482839;R-HSA-2029485;R-HSA-6811436;
length: 806
go: ENSG00000184381;
drug: DB01103;
name:
85/88 kDa calcium-independent phospholipase A2 (CaI-PLA2) (EC 3.1.1.4) (Group VI phospholipase A2) (GVI PLA2) (Intracellular membrane-associated calcium-independent phospholipase A2 beta) (iPLA2-beta) (Patatin-like phospholipase domain-containing protein 9) (PNPLA9)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; ATP-dependent protein binding [GO:0043008]; calcium-independent phospholipase A2 activity [GO:0047499]; calmodulin binding [GO:0005516]; hydrolase activity [GO:0016787]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; protein kinase binding [GO:0019901]; serine hydrolase activity [GO:0017171]; antibacterial humoral response [GO:0019731]; cardiolipin biosynthetic process [GO:0032049]; chemotaxis [GO:0006935]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; lipid catabolic process [GO:0016042]; maternal process involved in female pregnancy [GO:0060135]; memory [GO:0007613]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; positive regulation of arachidonic acid secretion [GO:0090238]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of ceramide biosynthetic process [GO:2000304]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of exocytosis [GO:0045921]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of protein kinase C signaling [GO:0090037]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; regulation of store-operated calcium channel activity [GO:1901339]; response to endoplasmic reticulum stress [GO:0034976]; urinary bladder smooth muscle contraction [GO:0014832]

snps:
rs11570605 rs11570606 rs11570607 rs11570646 rs121908682 rs11570680 rs121908681 rs1004616610 rs121908683 rs767689496 rs121908686 rs121908687 rs34184838 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=LH-iPLA2; IsoId=O60733-1; Sequence=Displayed; Name=SH-iPLA2; IsoId=O60733-2; Sequence=VSP_000278; Name=Ankyrin-iPLA2-1; IsoId=O60733-3; Sequence=VSP_000281, VSP_000282; Name=Ankyrin-iPLA2-2; IsoId=O60733-4; Sequence=VSP_000277, VSP_000279, VSP_000280; 

location:
SUBCELLULAR LOCATION: Isoform LH-iPLA2: Membrane; Peripheral membrane protein. Note=Recruited to the membrane-enriched pseudopod upon MCP1/CCL2 stimulation in monocytes.; SUBCELLULAR LOCATION: Isoform SH-iPLA2: Cytoplasm.


uniprotID: Q9HBL7
geneSymbol: PLGRKT
name: Plasminogen receptor (KT) (Plg-R(KT))
length: 147
go: ENSG00000107020;
sequence:
MGFIFSKSMNESMKNQKEFMLMNARLQLERQLIMQSEMRERQMAMQIAWSREFLKYFGTFFGLAAISLTAGAIKKKKPAFLVPIVPLSFILTYQYDLGYGTLLERMKGEAEDILETEKSKLQLPRGMITFESIEKARKEQSRFFIDK

opentargets:
integral component of plasma membrane [GO:0005887]; chemotaxis [GO:0006935]; inflammatory response [GO:0006954]; positive regulation of plasminogen activation [GO:0010756]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21940822}; Multi-pass membrane protein {ECO:0000269|PubMed:21940822}. Note=Colocalizes on the cell surface with urokinase plasminogen activator surface receptor/PLAUR. {ECO:0000250}.


uniprotID: Q7Z6Z6
geneSymbol: PNPLA5
reactome: R-HSA-163560;
name: Patatin-like phospholipase domain-containing protein 5 (EC 3.1.1.-) (GS2-like protein)
length: 429
go: ENSG00000100341;
snps: rs2071883 rs10428037 rs739231
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lipid droplet [GO:0005811]; membrane [GO:0016020]; triglyceride lipase activity [GO:0004806]; lipid homeostasis [GO:0055088]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6Z6-1; Sequence=Displayed; Name=2; IsoId=Q7Z6Z6-2; Sequence=VSP_026373; 


uniprotID: Q8NEB5
geneSymbol: PLPP5
reactome: R-HSA-2029485;
length: 264
go: ENSG00000147535;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Phospholipid phosphatase 5 (EC 3.1.3.4) (Phosphatidic acid phosphatase type 2 domain-containing protein 1B)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; phosphatase activity [GO:0016791]; phosphatidate phosphatase activity [GO:0008195]; phospholipid dephosphorylation [GO:0046839]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NEB5-1; Sequence=Displayed; Name=2; IsoId=Q8NEB5-2; Sequence=VSP_025241, VSP_025242; Name=3; IsoId=Q8NEB5-3; Sequence=VSP_040055; Name=4; IsoId=Q8NEB5-4; Sequence=VSP_054076, VSP_054077; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9NRY7
geneSymbol: PLSCR2
name: Phospholipid scramblase 2 (PL scramblase 2) (Ca(2+)-dependent phospholipid scramblase 2)
length: 297
go: ENSG00000163746;
sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; phospholipid scramblase activity [GO:0017128]; phospholipid scrambling [GO:0017121]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q9NRY7-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=Q9NRY7-1; Sequence=VSP_055239; Name=3; IsoId=Q9NRY7-3; Sequence=VSP_055240; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:24648509}.


uniprotID: P13797
geneSymbol: PLS3
pdb: 1AOA;1WJO;
name: Plastin-3 (T-plastin)
length: 630
go: ENSG00000102024;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
actin filament [GO:0005884]; actin filament bundle [GO:0032432]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; actin filament bundle assembly [GO:0051017]; actin filament network formation [GO:0051639]; bone development [GO:0060348]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13797-1; Sequence=Displayed; Name=2; IsoId=P13797-2; Sequence=VSP_056236, VSP_056237; Note=No experimental confirmation available.; Name=3; IsoId=P13797-3; Sequence=VSP_056235; Note=No experimental confirmation available.; 


uniprotID: A0PG75
geneSymbol: PLSCR5
name: Phospholipid scramblase family member 5
length: 271
go: ENSG00000231213;
snps: rs12107687
sequence:

opentargets:
plasma membrane [GO:0005886]; phospholipid scramblase activity [GO:0017128]; phospholipid scrambling [GO:0017121]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0PG75-1; Sequence=Displayed; Name=2; IsoId=A0PG75-2; Sequence=VSP_054160; Note=No experimental confirmation available.; 


uniprotID: P54277
geneSymbol: PMS1
pdb: 2CS1;
name: PMS1 protein homolog 1 (DNA mismatch repair protein PMS1)
length: 932
go: ENSG00000064933;
snps: rs5742973 rs2066459 rs1145231 rs1145232 rs2066456 rs2066455 rs1145234
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; mismatched DNA binding [GO:0030983]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P54277-1; Sequence=Displayed; Name=2; IsoId=P54277-2; Sequence=VSP_042676, VSP_042677; Note=No experimental confirmation available.; Name=3; IsoId=P54277-3; Sequence=VSP_043371; Name=4; IsoId=P54277-4; Sequence=VSP_047692, VSP_043371, VSP_042676, VSP_042677; 


uniprotID: P0CW24
geneSymbol: PNMA6A
name: Paraneoplastic antigen-like protein 6A
length: 399
go: ENSG00000235961;
sequence:


uniprotID: Q96PV4
geneSymbol: PNMA5
name: Paraneoplastic antigen-like protein 5 (Tumor antigen BJ-HCC-25)
length: 448
go: ENSG00000198883;
opentargets: identical protein binding [GO:0042802]; positive regulation of apoptotic process [GO:0043065]
snps: rs3810655 rs3810654
sequence:


uniprotID: Q9NP80
geneSymbol: PNPLA8
reactome: R-HSA-1482788;R-HSA-1482839;
length: 782
go: ENSG00000135241;
name:
Calcium-independent phospholipase A2-gamma (EC 3.1.1.5) (Intracellular membrane-associated calcium-independent phospholipase A2 gamma) (iPLA2-gamma) (PNPLA-gamma) (Patatin-like phospholipase domain-containing protein 8) (iPLA2-2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; calcium-independent phospholipase A2 activity [GO:0047499]; lysophospholipase activity [GO:0004622]; phospholipase A2 activity [GO:0004623]; arachidonic acid metabolic process [GO:0019369]; arachidonic acid secretion [GO:0050482]; cell death [GO:0008219]; fatty acid metabolic process [GO:0006631]; linoleic acid metabolic process [GO:0043651]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylcholine catabolic process [GO:0034638]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylethanolamine catabolic process [GO:0046338]; prostaglandin biosynthetic process [GO:0001516]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NP80-1; Sequence=Displayed; Name=2; IsoId=Q9NP80-2; Sequence=VSP_028005; Note=No experimental confirmation available.; Name=3; IsoId=Q9NP80-3; Sequence=VSP_045594; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}.


uniprotID: Q68D20
geneSymbol: PMS2CL
name: Protein PMS2CL (PMS2-C terminal-like protein)
length: 193
sequence:
MHAADLEKPMVEKQDQSPSLRTGEEKRDVSISRLREAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMSSSSTSDAISDRGVLRPQKEAVSSSQGPSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSECVASTPGDRGSQEHVDSQEKAPETDDSFSDVDCHSNQEDTGCKFQVLPQPTNLTSPNTKVF


uniprotID: P54278
geneSymbol: PMS2
reactome: R-HSA-5358565;R-HSA-5358606;R-HSA-5545483;R-HSA-5632987;R-HSA-6796648;
pdb: 1EA6;1H7S;1H7U;5U5R;
length: 862
go: ENSG00000122512;
drug: DB02930;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23709753}.
name:
Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; endonuclease activity [GO:0004519]; single base insertion or deletion binding [GO:0032138]; single-stranded DNA binding [GO:0003697]; mismatch repair [GO:0006298]; response to drug [GO:0042493]; somatic hypermutation of immunoglobulin genes [GO:0016446]

snps:
rs63750123 rs10254120 rs587781918 rs121434629 rs121434629 rs200313585 rs769554577 rs188006077 rs587779341 rs587779342 rs374704824 rs587779345 rs1805322 rs587779346 rs587778619 rs200726484 rs1805321 rs587781827 rs63750685 rs1805323 rs587779328 rs368516768 rs2228007 rs74902811 rs2228007 rs2228006 rs63750668 rs63750055 rs63750947 rs1805318 rs1805324 rs587779332 rs587781317 rs267608161 rs587779337 rs17420802 rs587781265 rs267608152 rs587779338 rs267608174 rs371673459 rs1802683 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P54278-1; Sequence=Displayed; Name=2; IsoId=P54278-2; Sequence=VSP_029386; Note=No experimental confirmation available.; Name=3; IsoId=P54278-3; Sequence=VSP_029387, VSP_029388; Note=No experimental confirmation available.; Name=4; IsoId=P54278-4; Sequence=VSP_029384, VSP_029385; Note=No experimental confirmation available.; 


uniprotID: Q01860
geneSymbol: POU5F1
reactome: R-HSA-2892245;R-HSA-2892247;R-HSA-452723;
length: 360
go: ENSG00000204531;
drug: DB00988;DB00368;
snps: rs1150767 rs1061120
name:
POU domain, class 5, transcription factor 1 (Octamer-binding protein 3) (Oct-3) (Octamer-binding protein 4) (Oct-4) (Octamer-binding transcription factor 3) (OTF-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; ubiquitin protein ligase binding [GO:0031625]; anatomical structure morphogenesis [GO:0009653]; blastocyst development [GO:0001824]; BMP signaling pathway involved in heart induction [GO:0003130]; cardiac cell fate determination [GO:0060913]; cell fate commitment involved in formation of primary germ layer [GO:0060795]; endodermal cell fate specification [GO:0001714]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of gene silencing by miRNA [GO:0060965]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of asymmetric cell division [GO:0009786]; regulation of gene expression [GO:0010468]; regulation of heart induction by regulation of canonical Wnt signaling pathway [GO:0090081]; regulation of methylation-dependent chromatin silencing [GO:0090308]; regulation of transcription, DNA-templated [GO:0006355]; response to wounding [GO:0009611]; somatic stem cell population maintenance [GO:0035019]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=Oct-3A, Oct3A; IsoId=Q01860-1; Sequence=Displayed; Name=B; Synonyms=Oct-3B, Oct3B; IsoId=Q01860-2; Sequence=VSP_002333; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Expressed in a diffuse and slightly punctuate pattern. Colocalizes with MAPK8 and MAPK9 in the nucleus. {ECO:0000250|UniProtKB:P20263, ECO:0000269|PubMed:18191611, ECO:0000269|PubMed:19274063, ECO:0000269|PubMed:23024368}.


uniprotID: P10266
geneSymbol: ERVK-10
length: 1014
name:
Endogenous retrovirus group K member 10 Pol protein (HERV-K10 Pol protein) (HERV-K107 Pol protein) (HERV-K_5q33.3 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:

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


uniprotID: Q9UQG0
geneSymbol: ERVK-11
length: 969
name:
Endogenous retrovirus group K member 11 Pol protein (HERV-K_3q27.2 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=This protein is synthesized as Gag-Pro and Gag-Pro-Pol polyprotein precursors. These polyproteins are thought, by similarity with type-B retroviruses, to be generated by -1 frameshifts occurring at the Gag-Pro and Pro-Pol genes boundaries.; Name=1; IsoId=Q9UQG0-1; Sequence=Displayed; 


uniprotID: Q8N443
geneSymbol: RIBC1
name: RIB43A-like with coiled-coils protein 1
length: 379
go: ENSG00000158423;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N443-1; Sequence=Displayed; Name=2; IsoId=Q8N443-2; Sequence=VSP_021178, VSP_021179; Name=3; IsoId=Q8N443-3; Sequence=VSP_044834, VSP_044835; Note=No experimental confirmation available.; 


uniprotID: P08134
geneSymbol: RHOC
pdb: 1Z2C;2GCN;2GCO;2GCP;
name: Rho-related GTP-binding protein RhoC (Rho cDNA clone 9) (h9)
length: 193
go: ENSG00000155366;
snps: rs11538959
reactome:
R-HSA-194840;R-HSA-416482;R-HSA-416572;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5663220;R-HSA-5666185;

sequence:
MAAIRKKLVIVGDGACGKTCLLIVFSKDQFPEVYVPTVFENYIADIEVDGKQVELALWDTAGQEDYDRLRPLSYPDTDVILMCFSIDSPDSLENIPEKWTPEVKHFCPNVPIILVGNKKDLRQDEHTRRELAKMKQEPVRSEEGRDMANRISAFGYLECSAKTKEGVREVFEMATRAGLQVRKNKRRRGCPIL

opentargets:
cell cortex [GO:0005938]; cell division site [GO:0032153]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein kinase binding [GO:0019901]; actin filament bundle assembly [GO:0051017]; actin filament organization [GO:0007015]; apical junction assembly [GO:0043297]; cell migration [GO:0016477]; establishment or maintenance of actin cytoskeleton polarity [GO:0030950]; G protein-coupled receptor signaling pathway [GO:0007186]; mitotic cytokinesis [GO:0000281]; positive regulation of cell migration [GO:0030335]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of lipase activity [GO:0060193]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of stress fiber assembly [GO:0051496]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell migration [GO:0030334]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]; skeletal muscle satellite cell migration [GO:1902766]; wound healing, spreading of cells [GO:0044319]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cleavage furrow {ECO:0000269|PubMed:16236794}. Note=Translocates to the equatorial region before furrow formation in a ECT2-dependent manner.


uniprotID: Q6R327
geneSymbol: RICTOR
reactome: R-HSA-1257604;R-HSA-389357;R-HSA-5218920;R-HSA-5674400;R-HSA-6804757;
pdb: 5ZCS;
name: Rapamycin-insensitive companion of mTOR (AVO3 homolog) (hAVO3)
length: 1708
go: ENSG00000164327;
snps: rs2043112
sequence:

opentargets:
cytosol [GO:0005829]; TORC2 complex [GO:0031932]; enzyme activator activity [GO:0008047]; protein kinase binding [GO:0019901]; ribosome binding [GO:0043022]; actin cytoskeleton reorganization [GO:0031532]; activation of protein kinase B activity [GO:0032148]; embryo development ending in birth or egg hatching [GO:0009792]; establishment of cell polarity [GO:0030010]; establishment or maintenance of actin cytoskeleton polarity [GO:0030950]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of TOR signaling [GO:0032008]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of establishment of cell polarity [GO:2000114]; regulation of gene expression [GO:0010468]; regulation of GTPase activity [GO:0043087]; regulation of inflammatory response [GO:0050727]; regulation of peptidyl-serine phosphorylation [GO:0033135]; regulation of phosphorylation [GO:0042325]; regulation of protein kinase B signaling [GO:0051896]; TOR signaling [GO:0031929]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:15268862}; IsoId=Q6R327-1; Sequence=Displayed; Name=2; IsoId=Q6R327-4; Sequence=VSP_038362, VSP_038363; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q6R327-3; Sequence=VSP_052581; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q8N392
geneSymbol: ARHGAP18
reactome: R-HSA-194840;
name: Rho GTPase-activating protein 18 (MacGAP) (Rho-type GTPase-activating protein 18)
length: 663
go: ENSG00000146376;
snps: rs3752536 rs11544371 rs11544372
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21865595}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; GTPase activator activity [GO:0005096]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of actin filament polymerization [GO:0030833]; regulation of cell motility [GO:2000145]; regulation of cell shape [GO:0008360]; regulation of small GTPase mediated signal transduction [GO:0051056]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N392-1; Sequence=Displayed; Name=2; IsoId=Q8N392-2; Sequence=VSP_052092; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9NVN3
geneSymbol: RIC8B
name: Synembryn-B (Brain synembryn) (hSyn) (Protein Ric-8B)
length: 520
go: ENSG00000111785;
sequence:

opentargets:
cell cortex [GO:0005938]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; G-protein alpha-subunit binding [GO:0001965]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=5; IsoId=Q9NVN3-5; Sequence=Displayed; Name=1; IsoId=Q9NVN3-1; Sequence=VSP_039866; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9NVN3-3; Sequence=VSP_018511, VSP_039866; Note=No experimental confirmation available.; Name=4; IsoId=Q9NVN3-4; Sequence=VSP_018510, VSP_018512, VSP_018513; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000269|PubMed:12652642}. Note=Localizes to the cell cortex.


uniprotID: Q96NA2
geneSymbol: RILP
reactome: R-HSA-2132295;
pdb: 1YHN;
name: Rab-interacting lysosomal protein
length: 401
go: ENSG00000167705;
snps: rs9909321 rs34982553
sequence:

opentargets:
ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; phagocytic vesicle membrane [GO:0030670]; protein-containing complex [GO:0032991]; dynein light intermediate chain binding [GO:0051959]; protein dimerization activity [GO:0046983]; Rab GTPase binding [GO:0017137]; small GTPase binding [GO:0031267]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cilium assembly [GO:0060271]; early endosome to late endosome transport [GO:0045022]; endosome to lysosome transport [GO:0008333]; endosome transport via multivesicular body sorting pathway [GO:0032509]; intralumenal vesicle formation [GO:0070676]; negative regulation of protein catabolic process [GO:0042177]; positive regulation of protein catabolic process [GO:0045732]; protein transport [GO:0015031]; regulation of multivesicular body size [GO:0010796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NA2-1; Sequence=Displayed; Name=2; IsoId=Q96NA2-2; Sequence=VSP_016043, VSP_016044; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:11179213, ECO:0000269|PubMed:12944476}. Lysosome membrane {ECO:0000269|PubMed:11179213, ECO:0000269|PubMed:12944476, ECO:0000269|PubMed:14668488}. Cytoplasmic vesicle, phagosome membrane {ECO:0000269|PubMed:12944476}. Note=Associated with late endosomal, lysosomal and phagosomal membranes. The interaction with RAB7A is necessary for its recruitment to phagosomes. {ECO:0000269|PubMed:12944476}.


uniprotID: O95153
geneSymbol: TSPOAP1
reactome: R-HSA-181429;R-HSA-181430;R-HSA-196108;R-HSA-210500;R-HSA-212676;R-HSA-264642;
length: 1857
go: ENSG00000005379;
name:
Peripheral-type benzodiazepine receptor-associated protein 1 (PRAX-1) (Peripheral benzodiazepine receptor-interacting protein) (PBR-IP) (RIMS-binding protein 1) (RIM-BP1) (TSPO-associated protein 1)

sequence:

opentargets:
calyx of Held [GO:0044305]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; mitochondrion [GO:0005739]; benzodiazepine receptor binding [GO:0030156]; voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels [GO:0099626]; C21-steroid hormone biosynthetic process [GO:0006700]

snps:
rs2072145 rs2072147 rs373894175 rs9913145 rs9905604 rs3744099 rs2680704 rs3744101 rs11079346 rs2301868 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95153-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O95153-2; Sequence=VSP_009204; Note=No experimental confirmation available.; Name=3; IsoId=O95153-3; Sequence=VSP_009205; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9915832}. Mitochondrion {ECO:0000269|PubMed:9915832}. Note=Preferentially expressed in the mitochondria in the presence of TSPO.


uniprotID: Q07020
geneSymbol: RPL18
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
name: 60S ribosomal protein L18 (Large ribosomal subunit protein eL18)
length: 188
go: ENSG00000063177;
sequence:
MGVDIRHNKDRKVRRKEPKSQDIYLRLLVKLYRFLARRTNSTFNQVVLKRLFMSRTNRPPLSLSRMIRKMKLPGRENKTAVVVGTITDDVRVQEVPKLKVCALRVTSRARSRILRAGGKILTFDQLALDSPKGCGTVLLSGPRKGREVYRHFGKAPGTPHSHTKPYVRSKGRKFERARGRRASRGYKN

opentargets:
cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; endoplasmic reticulum [GO:0005783]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; polysomal ribosome [GO:0042788]; rough endoplasmic reticulum [GO:0005791]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; cytoplasmic translation [GO:0002181]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07020-1; Sequence=Displayed; Name=2; IsoId=Q07020-2; Sequence=VSP_055170; Note=No experimental confirmation available. Based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q95342}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q95342, ECO:0000269|PubMed:25957688}.


uniprotID: Q15287
geneSymbol: RNPS1
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;R-HSA-9010553;R-HSA-975957;
pdb: 4A8X;
name: RNA-binding protein with serine-rich domain 1 (SR-related protein LDC2)
length: 305
go: ENSG00000205937;
sequence:

opentargets:
ASAP complex [GO:0061574]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of apoptotic process [GO:0043065]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15287-1; Sequence=Displayed; Name=2; IsoId=Q15287-2; Sequence=VSP_016243; Name=3; IsoId=Q15287-3; Sequence=VSP_016243, VSP_037601; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles.


uniprotID: Q5GAN4
geneSymbol: RNASE12
name: Probable inactive ribonuclease-like protein 12
length: 147
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MIIMVIIFLVLLFWENEVNDEAVMSTLEHLHVDYPQNDVPVPARYCNHMIIQRVIREPDHTCKKEHVFIHERPRKINGICISPKKVACQNLSAIFCFQSETKFKMTVCQLIEGTRYPACRYHYSPTEGFVLVTCDDLRPDSFLGYVK

opentargets:
extracellular region [GO:0005576]; nucleic acid binding [GO:0003676]; ribonuclease activity [GO:0004540]


uniprotID: Q9H777
geneSymbol: ELAC1
pdb: 3ZWF;
length: 363
go: ENSG00000141642;
snps: rs34524743
name:
Zinc phosphodiesterase ELAC protein 1 (EC 3.1.26.11) (Deleted in Ma29) (ElaC homolog protein 1) (Ribonuclease Z 1) (RNase Z 1) (tRNA 3 endonuclease 1) (tRNase Z 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; 3'-tRNA processing endoribonuclease activity [GO:0042781]; metal ion binding [GO:0046872]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:21593607}. Nucleus {ECO:0000269|PubMed:21593607}. Note=Mainly cytosolic.


uniprotID: Q9BQ52
geneSymbol: ELAC2
reactome: R-HSA-6784531;R-HSA-6785470;R-HSA-8868766;
length: 826
go: ENSG00000006744;
name:
Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (ElaC homolog protein 2) (Heredity prostate cancer protein 2) (Ribonuclease Z 2) (RNase Z 2) (tRNA 3 endonuclease 2) (tRNase Z 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; endonuclease activity [GO:0004519]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; tRNA-specific ribonuclease activity [GO:0004549]; mitochondrial tRNA 3'-trailer cleavage, endonucleolytic [GO:0072684]; mitochondrial tRNA processing [GO:0090646]; tRNA 3'-end processing [GO:0042780]

snps:
rs9895963 rs397515465 rs148419785 rs4792311 rs397515466 rs3760317 rs752234492 rs397515463 rs5030739 rs119484087 rs78105154 rs119484086 rs770669443 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQ52-1; Sequence=Displayed; Name=2; IsoId=Q9BQ52-2; Sequence=VSP_009169, VSP_009171, VSP_009172; Note=No experimental confirmation available.; Name=3; IsoId=Q9BQ52-3; Sequence=VSP_009168, VSP_009170; Note=No experimental confirmation available.; Name=4; IsoId=Q9BQ52-4; Sequence=VSP_043449; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21593607}. Nucleus {ECO:0000269|PubMed:21593607}. Note=Mainly mitochondrial.


uniprotID: P10155
geneSymbol: TROVE2
length: 538
go: ENSG00000116747;
name:
60 kDa SS-A/Ro ribonucleoprotein (60 kDa Ro protein) (60 kDa ribonucleoprotein Ro) (RoRNP) (Ro 60 kDa autoantigen) (Sjoegren syndrome antigen A2) (Sjoegren syndrome type A antigen) (SS-A) (TROVE domain family member 2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ribonucleoprotein complex [GO:1990904]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; U2 snRNA binding [GO:0030620]; cilium assembly [GO:0060271]; immune system development [GO:0002520]; response to UV [GO:0009411]; smoothened signaling pathway [GO:0007224]; transcription by RNA polymerase III [GO:0006383]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Long; IsoId=P10155-1; Sequence=Displayed; Name=Short; Synonyms=60E2; IsoId=P10155-2; Sequence=VSP_005911, VSP_005912; Name=3; IsoId=P10155-3; Sequence=VSP_045262; Name=4; IsoId=P10155-4; Sequence=VSP_045797; Name=5; IsoId=P10155-5; Sequence=VSP_054041; 

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


uniprotID: Q13151
geneSymbol: HNRNPA0
reactome: R-HSA-72163;R-HSA-72203;
name: Heterogeneous nuclear ribonucleoprotein A0 (hnRNP A0)
length: 305
go: ENSG00000177733;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Component of ribonucleosomes. {ECO:0000250}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; AU-rich element binding [GO:0017091]; mRNA binding [GO:0003729]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; inflammatory response [GO:0006954]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; response to lipopolysaccharide [GO:0032496]; RNA metabolic process [GO:0016070]


uniprotID: P62750
geneSymbol: RPL23A
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
name: 60S ribosomal protein L23a (Large ribosomal subunit protein uL23)
length: 156
go: ENSG00000198242;
drug: DB02494;DB07374;DB08437;
snps: rs151327030
sequence:
MAPKAKKEAPAPPKAEAKAKALKAKKAVLKGVHSHKKKKIRTSPTFRRPKTLRLRRQPKYPRKSAPRRNKLDHYAIIKFPLTTESAMKKIEDNNTLVFIVDVKANKHQIKQAVKKLYDIDVAKVNTLIRPDGEKKAYVRLAPDYDALDVANKIGII

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; large ribosomal subunit rRNA binding [GO:0070180]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; TORC2 complex binding [GO:1904841]; cell proliferation [GO:0008283]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; ribosomal large subunit assembly [GO:0000027]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: P09651
geneSymbol: HNRNPA1
reactome: R-HSA-6803529;R-HSA-72163;R-HSA-72203;
length: 372
go: ENSG00000135486;
snps: rs375259222 rs397518453 rs397518452 rs397518454
pdb:
1HA1;1L3K;1PGZ;1PO6;1U1K;1U1L;1U1M;1U1N;1U1O;1U1P;1U1Q;1U1R;1UP1;2H4M;2LYV;2UP1;4YOE;5MPG;5MPL;6BXX;6DCL;

name:
Heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) (Helix-destabilizing protein) (Single-strand RNA-binding protein) (hnRNP core protein A1) [Cleaved into: Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed]

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; G-rich strand telomeric DNA binding [GO:0098505]; identical protein binding [GO:0042802]; miRNA binding [GO:0035198]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; protein domain specific binding [GO:0019904]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; telomeric repeat-containing RNA binding [GO:0061752]; cellular response to glucose starvation [GO:0042149]; cellular response to sodium arsenite [GO:1903936]; fibroblast growth factor receptor signaling pathway [GO:0008543]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; mRNA transport [GO:0051028]; negative regulation of telomere maintenance via telomerase [GO:0032211]; nuclear export [GO:0051168]; positive regulation of telomere maintenance via telomerase [GO:0032212]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA export from nucleus [GO:0006405]; RNA metabolic process [GO:0016070]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A1-B; IsoId=P09651-1; Sequence=Displayed; Name=A1-A; IsoId=P09651-2; Sequence=VSP_005824; Note=Is twenty times more abundant than isoform A1-B.; Name=2; IsoId=P09651-3; Sequence=VSP_034076; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:27694260}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles continuously between the nucleus and the cytoplasm along with mRNA. Component of ribonucleosomes (PubMed:17289661). {ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:27694260}.; SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17229681}. Note=(Microbial infection) In the course of viral infection, colocalizes with HCV NS5B at speckles in the cytoplasm in a HCV-replication dependent manner. {ECO:0000269|PubMed:17229681}.


uniprotID: Q9Y6N7
geneSymbol: ROBO1
pdb: 2EO9;2V9Q;2V9R;2V9T;3WIH;4HLJ;5O5G;5O5I;5OPE;
name: Roundabout homolog 1 (Deleted in U twenty twenty) (H-Robo-1)
length: 1651
go: ENSG00000169855;
snps: rs9647397 rs919603543 rs35456279 rs36055689
reactome:
R-HSA-373752;R-HSA-376176;R-HSA-428540;R-HSA-428542;R-HSA-428543;R-HSA-428890;R-HSA-8985586;R-HSA-8985801;R-HSA-9010553;

sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; axon guidance receptor activity [GO:0008046]; identical protein binding [GO:0042802]; LRR domain binding [GO:0030275]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; aorta development [GO:0035904]; aortic valve morphogenesis [GO:0003180]; axon guidance [GO:0007411]; axon midline choice point recognition [GO:0016199]; cell adhesion [GO:0007155]; cell migration involved in sprouting angiogenesis [GO:0002042]; chemorepulsion involved in postnatal olfactory bulb interneuron migration [GO:0021836]; endocardial cushion formation [GO:0003272]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of cell migration [GO:0030336]; negative regulation of chemokine-mediated signaling pathway [GO:0070100]; negative regulation of gene expression [GO:0010629]; negative regulation of mammary gland epithelial cell proliferation [GO:0033600]; negative regulation of negative chemotaxis [GO:0050925]; nervous system development [GO:0007399]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of axonogenesis [GO:0050772]; positive regulation of gene expression [GO:0010628]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of Notch signaling pathway involved in heart induction [GO:0035481]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of vascular endothelial growth factor signaling pathway [GO:1900748]; pulmonary valve morphogenesis [GO:0003184]; Roundabout signaling pathway [GO:0035385]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9Y6N7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6N7-2; Sequence=VSP_010646; Note=Incomplete.; Name=3; IsoId=Q9Y6N7-3; Sequence=VSP_010643, VSP_010644, VSP_010645; Name=4; IsoId=Q9Y6N7-4; Sequence=VSP_010643, VSP_010644; Name=5; IsoId=Q9Y6N7-5; Sequence=VSP_043881, VSP_010645, VSP_043882; Note=No experimental confirmation available.; Name=6; IsoId=Q9Y6N7-6; Sequence=VSP_043881, VSP_010645, VSP_043882, VSP_046084; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24560577}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:O89026}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250|UniProtKB:O55005}; Single-pass membrane protein {ECO:0000250|UniProtKB:O55005}. Note=Detected at growth cones in thalamus neurons. Detected at growth cones in thalamus neurons (By similarity). PRRG4 prevents cell surface location and both colocalize in the Endoplasmic reticulum/Golgi adjacent to the cell nucleus (By similarity). {ECO:0000250|UniProtKB:O55005, ECO:0000250|UniProtKB:O89026}.


uniprotID: Q03395
geneSymbol: ROM1
name: Rod outer segment membrane protein 1 (ROSP1) (Tetraspanin-23) (Tspan-23)
length: 351
go: ENSG00000149489;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; photoreceptor outer segment membrane [GO:0042622]; camera-type eye photoreceptor cell differentiation [GO:0060219]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; regulation of gene expression [GO:0010468]; retina vasculature development in camera-type eye [GO:0061298]; visual perception [GO:0007601]

snps:
rs143166696 rs199757012 rs747140028 rs146358003 rs1799959 rs150168119 rs767877192 rs200272942 rs137950927 


uniprotID: Q04912
geneSymbol: MST1R
reactome: R-HSA-8852405;
pdb: 3PLS;4FWW;4QT8;
length: 1400
go: ENSG00000164078;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Macrophage-stimulating protein receptor (MSP receptor) (EC 2.7.10.1) (CDw136) (Protein-tyrosine kinase 8) (p185-Ron) (CD antigen CD136) [Cleaved into: Macrophage-stimulating protein receptor alpha chain; Macrophage-stimulating protein receptor beta chain]

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; stress fiber [GO:0001725]; vacuole [GO:0005773]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; macrophage colony-stimulating factor receptor activity [GO:0005011]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; Wnt-protein binding [GO:0017147]; cell differentiation [GO:0030154]; defense response [GO:0006952]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; innate immune response [GO:0045087]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein kinase B signaling [GO:0051897]; response to virus [GO:0009615]; signal transduction [GO:0007165]; single fertilization [GO:0007338]; Wnt signaling pathway [GO:0016055]

snps:
rs35887539 rs55908300 rs55633379 rs200046052 rs2230593 rs200757776 rs35924402 rs2230591 rs2230592 rs34564898 rs34350470 rs2230590 rs35986685 rs201024956 rs56091918 rs773053723 rs7433231 rs1062633 rs56330223 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=RON; IsoId=Q04912-1; Sequence=Displayed; Name=Delta-RON; Synonyms=sf-RON; IsoId=Q04912-2; Sequence=VSP_005007; Note=Lacks part of the extracellular domain, oligomerizes and is constitutively activated. Expressed at higher level in cancer cells. {ECO:0000303|PubMed:26951679}; Name=RON-1; IsoId=Q04912-3; Sequence=VSP_038920, VSP_038921; Name=RON-2; IsoId=Q04912-4; Sequence=VSP_038919, VSP_038922, VSP_038923; Name=RON-3; IsoId=Q04912-5; Sequence=VSP_038924, VSP_038925; Name=RON-4; IsoId=Q04912-6; Sequence=VSP_038922, VSP_038923; Name=RON-5; IsoId=Q04912-7; Sequence=VSP_038919; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P83731
geneSymbol: RPL24
pdb: 4UG0;4V6X;5A2Q;5AJ0;5LKS;5T2C;6EK0;
name: 60S ribosomal protein L24 (60S ribosomal protein L30) (Large ribosomal subunit protein eL24)
length: 157
go: ENSG00000114391;
sequence:
MKVELCSFSGYKIYPGHGRRYARTDGKVFQFLNAKCESAFLSKRNPRQINWTVLYRRKHKKGQSEEIQKKRTRRAVKFQRAITGASLADIMAKRNQKPEVRKAQREQAIRAAKEAKKAKQASKKTAMAAAKAPTKAAPKQKIVKPVKVSAPRVGGKR

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; polysomal ribosome [GO:0042788]; synapse [GO:0045202]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; assembly of large subunit precursor of preribosome [GO:1902626]; cytoplasmic translation [GO:0002181]; exit from mitosis [GO:0010458]; mitotic cell cycle checkpoint [GO:0007093]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; optic nerve development [GO:0021554]; retina development in camera-type eye [GO:0060041]; retinal ganglion cell axon guidance [GO:0031290]; ribosomal large subunit assembly [GO:0000027]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q01974
geneSymbol: ROR2
reactome: R-HSA-4086400;R-HSA-5140745;
pdb: 3ZZW;4GT4;
length: 943
go: ENSG00000169071;
name:
Tyrosine-protein kinase transmembrane receptor ROR2 (EC 2.7.10.1) (Neurotrophic tyrosine kinase, receptor-related 2)

sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; microtubule [GO:0005874]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway [GO:1904929]; frizzled binding [GO:0005109]; metal ion binding [GO:0046872]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; Wnt-protein binding [GO:0017147]; astrocyte development [GO:0014002]; BMP signaling pathway [GO:0030509]; bone mineralization [GO:0030282]; cartilage condensation [GO:0001502]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; embryonic digit morphogenesis [GO:0042733]; embryonic genitalia morphogenesis [GO:0030538]; inner ear morphogenesis [GO:0042472]; JNK cascade [GO:0007254]; macrophage migration [GO:1905517]; male genitalia development [GO:0030539]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of signal transduction [GO:0009968]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of protein kinase C activity [GO:1900020]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of transcription, DNA-templated [GO:0045893]; signal transduction [GO:0007165]; SMAD protein signal transduction [GO:0060395]; smoothened signaling pathway [GO:0007224]; somitogenesis [GO:0001756]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

snps:
rs121909084 rs199975149 rs55737262 rs10820900 rs55983376 rs56197744 rs35852786 rs140213020 rs35764413 rs56099091 rs55798732 rs55651110 rs34431454 rs56231927 rs34491822 rs10761129 rs41277835 


uniprotID: P51449
geneSymbol: RORC
reactome: R-HSA-383280;R-HSA-6785807;R-HSA-8949275;
length: 518
go: ENSG00000143365;
snps: rs774357869
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26160376}.
pdb:
3B0W;3KYT;3L0J;3L0L;4NB6;4NIE;4QM0;4S14;4WLB;4WPF;4WQP;4XT9;4YMQ;4YPQ;4ZJR;4ZJW;4ZOM;5APH;5APJ;5APK;5AYG;5C4O;5C4S;5C4T;5C4U;5EJV;5ETH;5G42;5G43;5G44;5G45;5G46;5IXK;5IZ0;5K38;5K3L;5K3M;5K3N;5K6E;5K74;5LWP;5M96;5NI5;5NI7;5NI8;5NIB;5NTI;5NTK;5NTN;5NTP;5NTQ;5NTW;5NU1;5UFO;5UFR;5UHI;5VB3;5VB5;5VB6;5VB7;5VQK;5VQL;5W4R;5W4V;5X8Q;5YP5;5YP6;6B30;6B31;6BN6;6BR2;6BR3;6CN5;6CN6;6CVH;6ESN;6FGQ;6FZU;6G05;6G07;

name:
Nuclear receptor ROR-gamma (Nuclear receptor RZR-gamma) (Nuclear receptor subfamily 1 group F member 3) (RAR-related orphan receptor C) (Retinoid-related orphan receptor-gamma)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; oxysterol binding [GO:0008142]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; transcription coactivator binding [GO:0001223]; transcription factor activity, direct ligand regulated sequence-specific DNA binding [GO:0098531]; zinc ion binding [GO:0008270]; adipose tissue development [GO:0060612]; cellular response to sterol [GO:0036315]; circadian regulation of gene expression [GO:0032922]; cytokine-mediated signaling pathway [GO:0019221]; lymph node development [GO:0048535]; negative regulation of thymocyte apoptotic process [GO:0070244]; negative regulation of transcription by RNA polymerase II [GO:0000122]; Peyer's patch development [GO:0048541]; positive regulation of circadian rhythm [GO:0042753]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of fat cell differentiation [GO:0045598]; regulation of glucose metabolic process [GO:0010906]; regulation of steroid metabolic process [GO:0019218]; regulation of transcription involved in cell fate commitment [GO:0060850]; T-helper 17 cell differentiation [GO:0072539]; T-helper cell differentiation [GO:0042093]; transcription initiation from RNA polymerase II promoter [GO:0006367]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; IsoId=P51449-1; Sequence=Displayed; Name=2; Synonyms=RORgT; IsoId=P51449-2; Sequence=VSP_010632, VSP_010633; 


uniprotID: P56715
geneSymbol: RP1
name: Oxygen-regulated protein 1 (Retinitis pigmentosa 1 protein) (Retinitis pigmentosa RP1 protein)
length: 2156
go: ENSG00000104237;
sequence:

opentargets:
axoneme [GO:0005930]; ciliary tip [GO:0097542]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; microtubule binding [GO:0008017]; axoneme assembly [GO:0035082]; cellular response to light stimulus [GO:0071482]; intracellular signal transduction [GO:0035556]; photoreceptor cell development [GO:0042461]; photoreceptor cell maintenance [GO:0045494]; photoreceptor cell outer segment organization [GO:0035845]; phototransduction, visible light [GO:0007603]; positive regulation of non-motile cilium assembly [GO:1902857]; retina development in camera-type eye [GO:0060041]; retinal cone cell development [GO:0046549]; retinal rod cell development [GO:0046548]; visual perception [GO:0007601]

snps:
rs180729424 rs145691085 rs16920614 rs77775126 rs372551375 rs201725231 rs199879316 rs28399531 rs444772 rs16920621 rs200135800 rs2293869 rs756775228 rs186594858 rs139294220 rs35084330 rs760740229 rs446227 rs414352 rs143088423 rs371969576 rs140137224 rs61739567 rs149282954 rs137887415 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:11773008}. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors.


uniprotID: Q9Y2J0
geneSymbol: RPH3A
name: Rabphilin-3A (Exophilin-1)
length: 694
go: ENSG00000089169;
sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; neuron projection [GO:0043005]; protein-containing complex [GO:0032991]; secretory granule [GO:0030141]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; inositol 1,4,5 trisphosphate binding [GO:0070679]; phosphate ion binding [GO:0042301]; phosphatidylinositol phosphate binding [GO:1901981]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein-containing complex binding [GO:0044877]; Rab GTPase binding [GO:0017137]; selenium binding [GO:0008430]; zinc ion binding [GO:0008270]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2J0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2J0-2; Sequence=VSP_021016; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q9P1U0
geneSymbol: ZNRD1
reactome: R-HSA-427413;R-HSA-5250924;R-HSA-73762;R-HSA-73772;R-HSA-73777;R-HSA-73863;
name: DNA-directed RNA polymerase I subunit RPA12 (Zinc ribbon domain-containing protein 1)
length: 126
go: ENSG00000066379;
snps: rs17187658
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250|UniProtKB:P32529}.
sequence:
MSVMDLANTCSSFQSDLDFCSDCGSVLPLPGAQDTVTCIRCGFNINVRDFEGKVVKTSVVFHQLGTAMPMSVEEGPECQGPVVDRRCPRCGHEGMAYHTRQMRSADEGQTVFYTCTNCKFQEKEDS

opentargets:
nucleoplasm [GO:0005654]; RNA polymerase I complex [GO:0005736]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]; mRNA cleavage [GO:0006379]; nucleobase-containing compound metabolic process [GO:0006139]; positive regulation of gene expression, epigenetic [GO:0045815]; termination of RNA polymerase I transcription [GO:0006363]; transcription initiation from RNA polymerase I promoter [GO:0006361]


uniprotID: O95602
geneSymbol: POLR1A
reactome: R-HSA-427413;R-HSA-5250924;R-HSA-73762;R-HSA-73772;R-HSA-73777;R-HSA-73863;
length: 1720
go: ENSG00000068654;
snps: rs4832242 rs17026866 rs35239368 rs35443467 rs794729674 rs34302587 rs34892520 rs35093541
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
name:
DNA-directed RNA polymerase I subunit RPA1 (RNA polymerase I subunit A1) (EC 2.7.7.6) (A190) (DNA-directed RNA polymerase I largest subunit) (DNA-directed RNA polymerase I subunit A) (RNA polymerase I 194 kDa subunit) (RPA194)

sequence:

opentargets:
nucleoplasm [GO:0005654]; RNA polymerase I complex [GO:0005736]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; RNA polymerase I activity [GO:0001054]; zinc ion binding [GO:0008270]; negative regulation of protein localization to nucleolus [GO:1904750]; positive regulation of gene expression, epigenetic [GO:0045815]; termination of RNA polymerase I transcription [GO:0006363]; transcription initiation from RNA polymerase I promoter [GO:0006361]


uniprotID: Q3B726
geneSymbol: TWISTNB
reactome: R-HSA-427413;R-HSA-5250924;R-HSA-73762;R-HSA-73772;R-HSA-73777;R-HSA-73863;
name: DNA-directed RNA polymerase I subunit RPA43 (Twist neighbor protein)
length: 338
go: ENSG00000105849;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; RNA polymerase I complex [GO:0005736]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; cellular response to leukemia inhibitory factor [GO:1990830]; positive regulation of gene expression, epigenetic [GO:0045815]; termination of RNA polymerase I transcription [GO:0006363]; transcription initiation from RNA polymerase I promoter [GO:0006361]


uniprotID: P19388
geneSymbol: POLR2E
pdb: 5IY6;5IY7;5IY8;5IY9;5IYA;5IYB;5IYC;5IYD;
length: 210
go: ENSG00000099817;
snps: rs12459404
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9852112}.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-168325;R-HSA-1834949;R-HSA-203927;R-HSA-427413;R-HSA-452723;R-HSA-5250924;R-HSA-5578749;R-HSA-5601884;R-HSA-5617472;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-6803529;R-HSA-6807505;R-HSA-72086;R-HSA-72163;R-HSA-72165;R-HSA-72203;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73780;R-HSA-73863;R-HSA-73980;R-HSA-749476;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-76061;R-HSA-76066;R-HSA-76071;R-HSA-77075;R-HSA-8851708;R-HSA-9018519;

name:
DNA-directed RNA polymerases I, II, and III subunit RPABC1 (RNA polymerases I, II, and III subunit ABC1) (DNA-directed RNA polymerase II 23 kDa polypeptide) (DNA-directed RNA polymerase II subunit E) (RPB5 homolog) (XAP4)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase I complex [GO:0005736]; RNA polymerase II, core complex [GO:0005665]; RNA polymerase III complex [GO:0005666]; DNA binding [GO:0003677]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; 7-methylguanosine mRNA capping [GO:0006370]; fibroblast growth factor receptor signaling pathway [GO:0008543]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of gene expression, epigenetic [GO:0045815]; regulation of gene silencing by miRNA [GO:0060964]; RNA metabolic process [GO:0016070]; snRNA transcription by RNA polymerase II [GO:0042795]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription by RNA polymerase III [GO:0006383]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]; viral process [GO:0016032]


uniprotID: P61254
geneSymbol: RPL26
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
name: 60S ribosomal protein L26 (Large ribosomal subunit protein uL24)
length: 145
go: ENSG00000161970;
sequence:
MKFNPFVTSDRSKNRKRHFNAPSHIRRKIMSSPLSKELRQKYNVRSMPIRKDDEVQVVRGHYKGQQIGKVVQVYRKKYVIYIERVQREKANGTTVHVGIHPSKVVITRLKLDKDRKKILERKAKSRQVGKEKGKYKEETIEKMQE

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; cytosolic ribosome [GO:0022626]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ribonucleoprotein complex [GO:1990904]; mRNA 5'-UTR binding [GO:0048027]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; cellular response to gamma radiation [GO:0071480]; cellular response to UV [GO:0034644]; cytoplasmic translation [GO:0002181]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:1902164]; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902167]; positive regulation of translation [GO:0045727]; regulation of translation involved in cellular response to UV [GO:1904803]; ribosomal large subunit biogenesis [GO:0042273]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: P0DPB6
geneSymbol: POLR1D
length: 133
go: ENSG00000186184;
snps: rs767196650 rs1014369151
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
DNA-directed RNA polymerases I and III subunit RPAC2 (RNA polymerases I and III subunit AC2) (AC19) (DNA-directed RNA polymerase I subunit D) (RNA polymerase I 16 kDa subunit) (RPA16) (RPC16) (hRPA19)

sequence:
MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIMKNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKDYKDQKASRNESTF

opentargets:
RNA polymerase I complex [GO:0005736]; DNA binding [GO:0003677]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; protein dimerization activity [GO:0046983]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DPB6-1, Q9Y2S0-1; Sequence=Displayed; Name=2; IsoId=P0DPB5-1; Sequence=External; 


uniprotID: Q8IXW5
geneSymbol: RPAP2
reactome: R-HSA-6807505;
length: 612
go: ENSG00000122484;
name:
Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 (EC 3.1.3.16) (RNA polymerase II-associated protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II, holoenzyme [GO:0016591]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; RNA polymerase II CTD heptapeptide repeat phosphatase activity [GO:0008420]; dephosphorylation of RNA polymerase II C-terminal domain [GO:0070940]; snRNA transcription [GO:0009301]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXW5-1; Sequence=Displayed; Name=2; IsoId=Q8IXW5-2; Sequence=VSP_020680, VSP_020681; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22137580}. Nucleus {ECO:0000269|PubMed:22137580}. Note=Shuttles between the cytoplasm and the nucleus in a CRM1-dependent manner.


uniprotID: Q9H2M9
geneSymbol: RAB3GAP2
reactome: R-HSA-6811436;R-HSA-8876198;
length: 1393
go: ENSG00000118873;
snps: rs12045447 rs121434310 rs2289189
location: SUBCELLULAR LOCATION: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
name:
Rab3 GTPase-activating protein non-catalytic subunit (RGAP-iso) (Rab3 GTPase-activating protein 150 kDa subunit) (Rab3-GAP p150) (Rab3-GAP150) (Rab3-GAP regulatory subunit)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; enzyme activator activity [GO:0008047]; enzyme regulator activity [GO:0030234]; GTPase activator activity [GO:0005096]; protein heterodimerization activity [GO:0046982]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; establishment of protein localization to endoplasmic reticulum membrane [GO:0097051]; intracellular protein transport [GO:0006886]; positive regulation of autophagosome assembly [GO:2000786]; positive regulation of endoplasmic reticulum tubular network organization [GO:1903373]; positive regulation of protein lipidation [GO:1903061]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2M9-1; Sequence=Displayed; Name=2; IsoId=Q9H2M9-2; Sequence=VSP_013311, VSP_013312; Note=No experimental confirmation available.; 


uniprotID: Q93062
geneSymbol: RBPMS
pdb: 1BNY;5CYJ;5DET;
name: RNA-binding protein with multiple splicing (RBP-MS) (Heart and RRM expressed sequence) (Hermes)
length: 196
go: ENSG00000157110;
sequence:
MNNGGKAEKENTPSEANLQEEEVRTLFVSGLPLDIKPRELYLLFRPFKGYEGSLIKLTSKQPVGFVSFDSRSEAEAAKNALNGIRFDPEIPQTLRLEFAKANTKMAKNKLVGTPNPSTPLPNTVPQFIAREPYELTVPALYPSSPEVWAPYPLYPAELAPALPPPAFTYPASLHAQMRWLPPSEATSQGWKSRQFC

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; P-body [GO:0000932]; poly(A) binding [GO:0008143]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; snRNA stem-loop binding [GO:0035614]; transcription coactivator activity [GO:0003713]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of SMAD protein signal transduction [GO:0060391]; response to oxidative stress [GO:0006979]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=A; IsoId=Q93062-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=B; IsoId=Q93062-2; Sequence=VSP_005813; Name=C; IsoId=Q93062-3; Sequence=VSP_005814; Name=D; IsoId=Q93062-4; Sequence=VSP_005815; Name=E; IsoId=Q93062-5; Sequence=VSP_005816; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17099224}. Cytoplasm {ECO:0000269|PubMed:17099224}. Cytoplasm, P-body {ECO:0000269|PubMed:26347403}. Note=Translocates into cytoplasmic stress granules that probably correspond to P-bodies in response to oxidative stress. {ECO:0000269|PubMed:26347403}.


uniprotID: Q15415
geneSymbol: RBMY1F; RBMY1J
name: RNA-binding motif protein, Y chromosome, family 1 member F/J (Y chromosome RNA recognition motif 2)
length: 496
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; identical protein binding [GO:0042802]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA cis splicing, via spliceosome [GO:0045292]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15415-1; Sequence=Displayed; Name=2; IsoId=Q15415-2; Sequence=VSP_030217, VSP_030218; 


uniprotID: Q6WKZ4
geneSymbol: RAB11FIP1
pdb: 4D0G;
name: Rab11 family-interacting protein 1 (Rab11-FIP1) (Rab-coupling protein)
length: 1283
go: ENSG00000156675;
snps: rs7341564 rs12541651 rs16887092 rs7817179
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; phagocytic vesicle membrane [GO:0030670]; recycling endosome [GO:0055037]; Rab GTPase binding [GO:0017137]; negative regulation of adiponectin secretion [GO:0070164]; protein transport [GO:0015031]; regulated exocytosis [GO:0045055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Rab11-FIP 1B; IsoId=Q6WKZ4-4; Sequence=Displayed; Name=2; Synonyms=Rab11-FIP 1C; IsoId=Q6WKZ4-3; Sequence=VSP_013730; Name=3; Synonyms=Rab11-FIP 1A; IsoId=Q6WKZ4-1; Sequence=VSP_013726; Name=4; Synonyms=Rab11-FIP 1H, No Rab11-binding protein 2; IsoId=Q6WKZ4-2; Sequence=VSP_013727, VSP_013730, VSP_013731, VSP_013732; Name=5; IsoId=Q6WKZ4-5; Sequence=VSP_013728, VSP_013729; 

location:
SUBCELLULAR LOCATION: Recycling endosome {ECO:0000269|PubMed:11786538, ECO:0000269|PubMed:15181150, ECO:0000269|PubMed:15280022, ECO:0000269|PubMed:15355514, ECO:0000269|PubMed:16920206}. Note=Rab11A rather than Rab4A mediates localization in the endocytic recycling compartment (ERC).; SUBCELLULAR LOCATION: Isoform 2: Cytoplasmic vesicle, phagosome membrane. Note=Membrane-bound (isoform 2). Colocalizes with Rab11A at phagosomes (isoform 2).


uniprotID: P27694
geneSymbol: RPA1
length: 616
go: ENSG00000132383;
snps: rs5030755
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-174437;R-HSA-176187;R-HSA-3108214;R-HSA-3371453;R-HSA-3371511;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685938;R-HSA-5685942;R-HSA-5693607;R-HSA-5693616;R-HSA-5696395;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-6783310;R-HSA-6804756;R-HSA-68962;R-HSA-69166;R-HSA-69473;R-HSA-912446;

pdb:
1EWI;1FGU;1JMC;1L1O;2B29;2B3G;4IJH;4IJL;4IPC;4IPD;4IPG;4IPH;4LUO;4LUV;4LUZ;4LW1;4LWC;4NB3;4O0A;4R4C;4R4I;4R4O;4R4Q;4R4T;5E7N;5EAY;5N85;5N8A;

name:
Replication protein A 70 kDa DNA-binding subunit (RP-A p70) (Replication factor A protein 1) (RF-A protein 1) (Single-stranded DNA-binding protein) [Cleaved into: Replication protein A 70 kDa DNA-binding subunit, N-terminally processed]

sequence:

opentargets:
DNA replication factor A complex [GO:0005662]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; site of DNA damage [GO:0090734]; damaged DNA binding [GO:0003684]; G-rich strand telomeric DNA binding [GO:0098505]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; single-stranded DNA binding [GO:0003697]; single-stranded telomeric DNA binding [GO:0043047]; base-excision repair [GO:0006284]; cellular response to DNA damage stimulus [GO:0006974]; DNA damage response, detection of DNA damage [GO:0042769]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA unwinding involved in DNA replication [GO:0006268]; DNA-dependent DNA replication [GO:0006261]; double-strand break repair via homologous recombination [GO:0000724]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; G1/S transition of mitotic cell cycle [GO:0000082]; interstrand cross-link repair [GO:0036297]; meiotic cell cycle [GO:0051321]; mismatch repair [GO:0006298]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; protein localization to chromosome [GO:0034502]; regulation of cellular response to heat [GO:1900034]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; telomere maintenance via telomerase [GO:0007004]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17959650}. Nucleus, PML body {ECO:0000269|PubMed:17959650}. Note=Enriched in PML bodies in cells displaying alternative lengthening of their telomeres. {ECO:0000269|PubMed:17959650}.


uniprotID: Q8NE09
geneSymbol: RGS22
reactome: R-HSA-418594;
name: Regulator of G-protein signaling 22 (RGS22)
length: 1264
go: ENSG00000132554;
snps: rs2446927 rs3133711
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; negative regulation of signal transduction [GO:0009968]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NE09-1; Sequence=Displayed; Name=2; IsoId=Q8NE09-2; Sequence=VSP_022306; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q8NE09-3; Sequence=VSP_054225; Note=May be due to competing donor splice site.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18703424}. Nucleus {ECO:0000269|PubMed:18703424}. Note=Expressed in the cytoplasm of spermatogonia and spermatocytes. In spermatids, also expressed in the nucleus.


uniprotID: O14715
geneSymbol: RGPD8
length: 1765
go: ENSG00000169629;
name:
RANBP2-like and GRIP domain-containing protein 8 (Ran-binding protein 2-like 3) (RanBP2-like 3) (RanBP2L3)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nuclear pore [GO:0005643]; nucleus [GO:0005634]; Ran GTPase binding [GO:0008536]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of GTPase activity [GO:0043547]


uniprotID: Q17R89
geneSymbol: ARHGAP44
reactome: R-HSA-194840;
length: 818
go: ENSG00000006740;
snps: rs3213688
name:
Rho GTPase-activating protein 44 (NPC-A-10) (Rho-type GTPase-activating protein RICH2) (RhoGAP interacting with CIP4 homologs protein 2) (RICH-2)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; intracellular [GO:0005622]; leading edge membrane [GO:0031256]; postsynaptic density [GO:0014069]; presynaptic active zone [GO:0048786]; recycling endosome [GO:0055037]; GTPase activator activity [GO:0005096]; phospholipid binding [GO:0005543]; Rac GTPase binding [GO:0048365]; exocytosis [GO:0006887]; modification of dendritic spine [GO:0098886]; negative regulation of Rac protein signal transduction [GO:0035021]; neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0098887]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0099152]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q17R89-1; Sequence=Displayed; Name=2; IsoId=Q17R89-2; Sequence=VSP_053616, VSP_053617, VSP_053618; Note=Contains a PDZ-binding motif at positions 764-767.; Name=3; IsoId=Q17R89-3; Sequence=VSP_053616; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, dendritic spine {ECO:0000250}. Recycling endosome {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=In CA1 hippocampal synapses, detected at both presynaptic and postsynaptic sites. {ECO:0000250}.


uniprotID: Q6P4F7
geneSymbol: ARHGAP11A
reactome: R-HSA-194840;
pdb: 3EAP;
name: Rho GTPase-activating protein 11A (Rho-type GTPase-activating protein 11A)
length: 1023
go: ENSG00000198826;
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P4F7-1; Sequence=Displayed; Name=2; IsoId=Q6P4F7-2; Sequence=VSP_054102, VSP_054103; Note=No experimental confirmation available.; Name=3; IsoId=Q6P4F7-3; Sequence=VSP_055370; Note=No experimental confirmation available.; 


uniprotID: Q02543
geneSymbol: RPL18A
pdb: 4UG0;4V6X;5AJ0;5LKS;5T2C;6EK0;
name: 60S ribosomal protein L18a (Large ribosomal subunit protein eL20)
length: 176
go: ENSG00000105640;
sequence:
MKASGTLREYKVVGRCLPTPKCHTPPLYRMRIFAPNHVVAKSRFWYFVSQLKKMKKSSGEIVYCGQVFEKSPLRVKNFGIWLRYDSRSGTHNMYREYRDLTTAGAVTQCYRDMGARHRARAHSIQIMKVEEIAASKCRRPAVKQFHDSKIKFPLPHRVLRRQHKPRFTTKRPNTFF

opentargets:
cytosol [GO:0005829]; cytosolic large ribosomal subunit [GO:0022625]; membrane [GO:0016020]; polysomal ribosome [GO:0042788]; postsynaptic density [GO:0014069]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; cytoplasmic translation [GO:0002181]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; response to antineoplastic agent [GO:0097327]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]


uniprotID: Q01973
geneSymbol: ROR1
reactome: R-HSA-5140745;
pdb: 5Z55;6BA5;6BAN;
length: 937
go: ENSG00000185483;
snps: rs7527017 rs55832740 rs34109134
name:
Inactive tyrosine-protein kinase transmembrane receptor ROR1 (Neurotrophic tyrosine kinase, receptor-related 1)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; stress fiber [GO:0001725]; ATP binding [GO:0005524]; coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway [GO:1904929]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; astrocyte development [GO:0014002]; cell differentiation [GO:0030154]; inner ear development [GO:0048839]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; sensory perception of sound [GO:0007605]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=Q01973-1; Sequence=Displayed; Name=Short; Synonyms=T-ROR1; IsoId=Q01973-2; Sequence=VSP_005008; Name=3; IsoId=Q01973-3; Sequence=VSP_043663, VSP_043664; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:27162350}; Single-pass type I membrane protein. Cell projection, axon {ECO:0000250|UniProtKB:Q9Z139}.


uniprotID: Q92753
geneSymbol: RORB
reactome: R-HSA-383280;
length: 470
go: ENSG00000198963;
drug: DB01065;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00407}.
name:
Nuclear receptor ROR-beta (Nuclear receptor RZR-beta) (Nuclear receptor subfamily 1 group F member 2) (Retinoid-related orphan receptor-beta)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; melatonin receptor activity [GO:0008502]; nuclear receptor activity [GO:0004879]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; steroid hormone receptor activity [GO:0003707]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; amacrine cell differentiation [GO:0035881]; cellular response to retinoic acid [GO:0071300]; eye photoreceptor cell development [GO:0042462]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of circadian rhythm [GO:0042752]; regulation of transcription, DNA-templated [GO:0006355]; retina development in camera-type eye [GO:0060041]; retinal cone cell development [GO:0046549]; retinal rod cell development [GO:0046548]; rhythmic process [GO:0048511]; transcription initiation from RNA polymerase II promoter [GO:0006367]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=2; IsoId=Q92753-2; Sequence=Displayed; Name=1; IsoId=Q92753-1; Sequence=VSP_022575; 


