# annotation

uniprotID: Q8NGT7
geneSymbol: OR2A12
reactome: R-HSA-381753;
name: Olfactory receptor 2A12 (Olfactory receptor OR7-10)
length: 310
snps: rs9655672
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8NH08
geneSymbol: OR10AC1
reactome: R-HSA-381753;
name: Olfactory receptor 10AC1 (Olfactory receptor OR7-5)
length: 325
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: A6NM03
geneSymbol: OR2AG2
reactome: R-HSA-381753;
name: Olfactory receptor 2AG2
length: 316
go: ENSG00000188124;
snps: rs7102536 rs10839616 rs11828782 rs7924459
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q8TCB6
geneSymbol: OR51E1
reactome: R-HSA-381753;
length: 317
snps: rs17224476 rs17224476
name:
Olfactory receptor 51E1 (D-GPCR) (G-protein coupled receptor 164) (Olfactory receptor 52A3) (Prostate-overexpressed G protein-coupled receptor) (Prostate-specific G protein-coupled receptor 2)

sequence:

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15313197}; Multi-pass membrane protein {ECO:0000269|PubMed:15313197}.


uniprotID: A6NHG9
geneSymbol: OR5H14
reactome: R-HSA-381753;
name: Olfactory receptor 5H14
length: 310
snps: rs4241468 rs4857076
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: Q15070
geneSymbol: OXA1L
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
length: 435
snps: rs8572 rs17619
name:
Mitochondrial inner membrane protein OXA1L (Hsa) (OXA1Hs) (Oxidase assembly 1-like protein) (OXA1-like protein)

sequence:

opentargets:
integral component of mitochondrial membrane [GO:0032592]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain [GO:0005746]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; membrane insertase activity [GO:0032977]; mitochondrial ribosome binding [GO:0097177]; protein homodimerization activity [GO:0042803]; aerobic respiration [GO:0009060]; mitochondrial proton-transporting ATP synthase complex assembly [GO:0033615]; mitochondrial respiratory chain complex I assembly [GO:0032981]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; negative regulation of ATPase activity [GO:0032780]; negative regulation of oxidoreductase activity [GO:0051354]; oxidation-reduction process [GO:0055114]; protein tetramerization [GO:0051262]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15070-1; Sequence=Displayed; Name=2; IsoId=Q15070-2; Sequence=VSP_008942; Note=No experimental confirmation available.; Name=3; IsoId=Q15070-3; Sequence=VSP_008943, VSP_008944, VSP_008945; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:17936786}; Multi-pass membrane protein {ECO:0000269|PubMed:17936786}.


uniprotID: Q96DC9
geneSymbol: OTUB2
reactome: R-HSA-5689896;
pdb: 1TFF;4FJV;
length: 234
go: ENSG00000089723;
name:
Ubiquitin thioesterase OTUB2 (EC 3.4.19.12) (Deubiquitinating enzyme OTUB2) (OTU domain-containing ubiquitin aldehyde-binding protein 2) (Otubain-2) (Ubiquitin-specific-processing protease OTUB2)

sequence:

opentargets:
nucleus [GO:0005634]; NEDD8-specific protease activity [GO:0019784]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; ubiquitin binding [GO:0043130]; protein deubiquitination [GO:0016579]; protein K11-linked deubiquitination [GO:0035871]; protein K48-linked deubiquitination [GO:0071108]; protein K63-linked deubiquitination [GO:0070536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DC9-1; Sequence=Displayed; Name=2; IsoId=Q96DC9-2; Sequence=VSP_009465; Note=No experimental confirmation available.; 


uniprotID: A6NF01
geneSymbol: POM121B
name: Putative nuclear envelope pore membrane protein POM 121B
length: 834
location: SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000250}.
sequence:

opentargets:
nuclear pore [GO:0005643]; nuclear localization sequence binding [GO:0008139]; structural constituent of nuclear pore [GO:0017056]; mRNA transport [GO:0051028]; protein import into nucleus [GO:0006606]


uniprotID: Q9BRP4
geneSymbol: PAAF1
name: Proteasomal ATPase-associated factor 1 (Protein G-16) (WD repeat-containing protein 71)
length: 392
go: ENSG00000175575;
opentargets: proteasome complex [GO:0000502]; viral process [GO:0016032]
snps: rs17850051 rs2067912 rs3741138
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRP4-1; Sequence=Displayed; Name=2; IsoId=Q9BRP4-2; Sequence=VSP_018477; Name=3; IsoId=Q9BRP4-3; Sequence=VSP_044699; Note=No experimental confirmation available.; 


uniprotID: Q9UM07
geneSymbol: PADI4
reactome: R-HSA-3247509;
pdb: 1WD8;1WD9;1WDA;2DEW;2DEX;2DEY;2DW5;3APM;3APN;3B1T;3B1U;4DKT;4X8C;4X8G;5N0M;5N0Y;5N0Z;5N1B;
length: 663
go: ENSG00000159339;
drug: DB00207;DB00254;DB00155;DB07449;DB01082;DB00759;
name:
Protein-arginine deiminase type-4 (EC 3.5.3.15) (HL-60 PAD) (Peptidylarginine deiminase IV) (Protein-arginine deiminase type IV)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; arginine binding [GO:0034618]; arginine deiminase activity [GO:0016990]; calcium ion binding [GO:0005509]; protein homodimerization activity [GO:0042803]; protein-arginine deiminase activity [GO:0004668]; arginine deiminase pathway [GO:0019546]; cellular protein modification process [GO:0006464]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; histone citrullination [GO:0036414]; histone H3-R26 citrullination [GO:0036413]; innate immune response [GO:0045087]; nucleosome assembly [GO:0006334]; protein citrullination [GO:0018101]; stem cell population maintenance [GO:0019827]

snps:
rs35381732 rs11203366 rs35809521 rs11203367 rs143187209 rs34309058 rs874881 rs12733102 rs11588132 rs35903413 rs1748020 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils and neutrophils.


uniprotID: Q96GU1
geneSymbol: PAGE5
length: 130
go: ENSG00000158639;
name:
P antigen family member 5 (PAGE-5) (Cancer/testis antigen 16.1) (CT16.1) (G antigen family E member 1) (Prostate-associated gene 5 protein)

sequence:
MQAPWAGNRGWAGTREEVRDMSEHVTRSQSSERGNDQESSQPVGPVIVQQPTEEKRQEEEPPTDNQGIAPSGEIKNEGAPAVQGTDVEAFQQELALLKIEDAPGDGPDVREGTLPTFDPTKVLEAGEGQL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96GU1-1; Sequence=Displayed; Name=2; IsoId=Q96GU1-2; Sequence=VSP_042547; Note=No experimental confirmation available.; 


uniprotID: Q8IZE3
geneSymbol: SCYL3
length: 742
go: ENSG00000000457;
snps: rs12143301 rs4656197
name:
Protein-associating with the carboxyl-terminal domain of ezrin (Ezrin-binding protein PACE-1) (SCY1-like protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; ATP binding [GO:0005524]; cell migration [GO:0016477]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZE3-1; Sequence=Displayed; Name=2; IsoId=Q8IZE3-2; Sequence=VSP_013125; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12651155}. Golgi apparatus {ECO:0000269|PubMed:12651155}. Cell projection, lamellipodium {ECO:0000269|PubMed:12651155}. Note=Colocalized with EZR/VIL2, actin and CD44 in lamellipodia.


uniprotID: Q9BTK6
geneSymbol: PAGR1
reactome: R-HSA-5617472;
length: 254
go: ENSG00000280789;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19039327}.
name:
PAXIP1-associated glutamate-rich protein 1 (Glutamate-rich coactivator interacting with SRC1) (GAS) (PAXIP1-associated protein 1) (PTIP-associated protein 1)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; MLL3/4 complex [GO:0044666]; nucleus [GO:0005634]; estrogen receptor binding [GO:0030331]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; histone H3-K4 methylation [GO:0051568]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q9Y2J8
geneSymbol: PADI2
reactome: R-HSA-3247509;R-HSA-6798695;
pdb: 4N20;4N22;4N24;4N25;4N26;4N28;4N2A;4N2B;4N2C;4N2D;4N2E;4N2F;4N2G;4N2H;4N2I;4N2K;4N2L;4N2M;4N2N;
length: 665
go: ENSG00000117115;
drug: DB00155;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12392711}.
name:
Protein-arginine deiminase type-2 (EC 3.5.3.15) (PAD-H19) (Peptidylarginine deiminase II) (Protein-arginine deiminase type II)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; calcium ion binding [GO:0005509]; estrogen receptor binding [GO:0030331]; protein homodimerization activity [GO:0042803]; protein-arginine deiminase activity [GO:0004668]; cellular response to leukemia inhibitory factor [GO:1990830]; chromatin-mediated maintenance of transcription [GO:0048096]; histone citrullination [GO:0036414]; histone H3-R26 citrullination [GO:0036413]; intracellular estrogen receptor signaling pathway [GO:0030520]; negative regulation of chemokine-mediated signaling pathway [GO:0070100]; negative regulation of lymphocyte chemotaxis [GO:1901624]; neutrophil degranulation [GO:0043312]; protein citrullination [GO:0018101]; regulation of chromatin disassembly [GO:0010848]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2J8-1; Sequence=Displayed; Name=2; IsoId=Q9Y2J8-2; Sequence=VSP_056385; Note=No experimental confirmation available.; 


uniprotID: A6NDB9
geneSymbol: PALM3
name: Paralemmin-3
length: 673
go: ENSG00000187867;
snps: rs11880169
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; response to lipopolysaccharide [GO:0032496]; Toll signaling pathway [GO:0008063]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.


uniprotID: Q9BPZ3
geneSymbol: PAIP2
pdb: 1JGN;3KUS;3KUT;
length: 127
go: ENSG00000120727;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11172725}.
name:
Polyadenylate-binding protein-interacting protein 2 (PABP-interacting protein 2) (PAIP-2) (Poly(A)-binding protein-interacting protein 2)

sequence:
MKDPSRSSTSPSIINEDVIINGHSHEDDNPFAEYMWMENEEEFNRQIEEELWEEEFIERCFQEMLEEEEEHEWFIPARDLPQTMDQIQDQFNDLVISDGSSLEDLVVKSNLNPNAKEFVPGVKYGNI

opentargets:
cytoplasm [GO:0005737]; mRNA binding [GO:0003729]; translation repressor activity [GO:0030371]; memory [GO:0007613]; negative regulation of translational initiation [GO:0045947]; regulation of long-term synaptic potentiation [GO:1900271]; spermatogenesis [GO:0007283]


uniprotID: Q13177
geneSymbol: PAK2
pdb: 3PCS;
length: 524
go: ENSG00000180370;
reactome:
R-HSA-164944;R-HSA-202433;R-HSA-211728;R-HSA-211733;R-HSA-211736;R-HSA-2871796;R-HSA-389359;R-HSA-3928664;R-HSA-399954;R-HSA-428540;R-HSA-4420097;R-HSA-445355;R-HSA-5218920;R-HSA-5621575;R-HSA-5627123;R-HSA-5687128;R-HSA-8950505;

name:
Serine/threonine-protein kinase PAK 2 (EC 2.7.11.1) (Gamma-PAK) (PAK65) (S6/H4 kinase) (p21-activated kinase 2) (PAK-2) (p58) [Cleaved into: PAK-2p27 (p27); PAK-2p34 (p34) (C-t-PAK2)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activator activity [GO:0030296]; Rac GTPase binding [GO:0048365]; small GTPase binding [GO:0031267]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cellular response to organic cyclic compound [GO:0071407]; dendritic spine development [GO:0060996]; Fc-epsilon receptor signaling pathway [GO:0038095]; interleukin-12-mediated signaling pathway [GO:0035722]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:2001271]; negative regulation of protein kinase activity [GO:0006469]; peptidyl-serine phosphorylation [GO:0018105]; phosphorylation [GO:0016310]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of defense response to virus by virus [GO:0050690]; regulation of growth [GO:0040008]; regulation of MAPK cascade [GO:0043408]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated protein kinase signaling cascade [GO:0031098]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

location:
SUBCELLULAR LOCATION: Serine/threonine-protein kinase PAK 2: Cytoplasm. Note=MYO18A mediates the cellular distribution of the PAK2-ARHGEF7-GIT1 complex to the inner surface of the cell membrane.; SUBCELLULAR LOCATION: PAK-2p34: Nucleus. Cytoplasm, perinuclear region. Membrane; Lipid-anchor. Note=Interaction with ARHGAP10 probably changes PAK-2p34 location to cytoplasmic perinuclear region. Myristoylation changes PAK-2p34 location to the membrane.


uniprotID: Q9GZY1
geneSymbol: PBOV1
name: Prostate and breast cancer overexpressed gene 1 protein (Protein UROC28) (UC28)
length: 135
go: ENSG00000254440;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
snps: rs6927706
sequence:
MRAFLRNQKYEDMHNIIHILQIRKLRHRLSNFPRLPGILAPETVLLPFCYKVFRKKEKVKRSQKATEFIDYSIEQSHHAILTPLQTHLTMKGSSMKCSSLSSEAILFTLTLQLTQTLGLECCLLYLSKTIHPQII

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11156405}. Nucleus {ECO:0000269|PubMed:11156405}.


uniprotID: E2RYF7
geneSymbol: HCG22
name: Protein PBMUCL2 (HLA complex group 22) (Panbronchiolitis-related mucin-like protein 2)
length: 251
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q9P2E7
geneSymbol: PCDH10
name: Protocadherin-10
length: 1040
go: ENSG00000138650;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2E7-1; Sequence=Displayed; Name=2; IsoId=Q9P2E7-2; Sequence=VSP_054404, VSP_054405; 


uniprotID: Q9NPG4
geneSymbol: PCDH12
length: 1184
go: ENSG00000113555;
snps: rs200451693 rs759794990 rs146725009 rs164075 rs164515 rs779814208
name:
Protocadherin-12 (Vascular cadherin-2) (Vascular endothelial cadherin-2) (VE-cad-2) (VE-cadherin-2) [Cleaved into: Protocadherin-12, secreted form]

sequence:

opentargets:
cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; glycogen metabolic process [GO:0005977]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; labyrinthine layer development [GO:0060711]; neuron recognition [GO:0008038]

location:
SUBCELLULAR LOCATION: Protocadherin-12: Cell membrane {ECO:0000269|PubMed:21402705}; Single-pass type I membrane protein {ECO:0000255}. Cell junction {ECO:0000250|UniProtKB:O55134}.; SUBCELLULAR LOCATION: Protocadherin-12, secreted form: Secreted {ECO:0000269|PubMed:21402705}. Note=The secreted form is produced following cleavage by ADAM10. {ECO:0000269|PubMed:21402705}.


uniprotID: Q9Y5I0
geneSymbol: PCDHA13
name: Protocadherin alpha-13 (PCDH-alpha-13)
length: 950
go: ENSG00000239389;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5I0-1; Sequence=Displayed; Name=2; IsoId=Q9Y5I0-2; Sequence=VSP_000697, VSP_000698; 


uniprotID: Q96QU1
geneSymbol: PCDH15
pdb: 4XHZ;5T4M;5T4N;5ULY;
name: Protocadherin-15
length: 1955
go: ENSG00000150275;
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; photoreceptor outer segment [GO:0001750]; stereocilium [GO:0032420]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; equilibrioception [GO:0050957]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; inner ear development [GO:0048839]; photoreceptor cell maintenance [GO:0045494]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]

snps:
rs11004439 rs137853003 rs145037203 rs137853002 rs10825269 rs4935502 rs2135720 rs111033363 rs61731387 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=A, CD1-1; IsoId=Q96QU1-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q96QU1-2; Sequence=VSP_028257, VSP_028258; Name=3; Synonyms=C; IsoId=Q96QU1-3; Sequence=VSP_028259, VSP_028260; Name=4; Synonyms=CD2-1; IsoId=Q96QU1-4; Sequence=VSP_046616, VSP_046617, VSP_046622; Name=5; Synonyms=CD3-1; IsoId=Q96QU1-6; Sequence=VSP_046618, VSP_046621; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Efficient localization to the plasma membrane requires the presence of LHFPL5. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: Q9Y5E5
geneSymbol: PCDHB4
name: Protocadherin beta-4 (PCDH-beta-4)
length: 795
go: ENSG00000081818;
snps: rs34350292 rs3733697 rs3733698 rs3776099 rs246669
sequence:


uniprotID: Q9Y5E4
geneSymbol: PCDHB5
name: Protocadherin beta-5 (PCDH-beta-5)
length: 795
snps: rs17096901 rs400562
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; chemical synaptic transmission [GO:0007268]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; synapse assembly [GO:0007416]


uniprotID: Q96JQ0
geneSymbol: DCHS1
name: Protocadherin-16 (Cadherin-19) (Cadherin-25) (Fibroblast cadherin-1) (Protein dachsous homolog 1)
length: 3298
go: ENSG00000166341;
sequence:

opentargets:
apical part of cell [GO:0045177]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; branching involved in ureteric bud morphogenesis [GO:0001658]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell migration involved in endocardial cushion formation [GO:0003273]; cochlea development [GO:0090102]; condensed mesenchymal cell proliferation [GO:0072137]; digestive tract development [GO:0048565]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; hippo signaling [GO:0035329]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; mitral valve formation [GO:0003192]; neural tube development [GO:0021915]; neurogenesis [GO:0022008]; ossification involved in bone maturation [GO:0043931]; pattern specification process [GO:0007389]; post-anal tail morphogenesis [GO:0036342]; protein localization to plasma membrane [GO:0072659]

snps:
rs145099391 rs148882462 rs4758443 rs56920123 rs768737101 rs7924553 rs2659875 rs483352919 rs201457110 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=In the embryonic cortex, FAT4 and DCHS1 accumulated at the cell-cell boundaries located apical to the adherens junction. {ECO:0000250}.


uniprotID: Q9UN66
geneSymbol: PCDHB8
name: Protocadherin beta-8 (PCDH-beta-8) (Protocadherin-3I)
length: 801
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

snps:
rs2950845 rs17096954 rs2950844 rs3733694 rs7700833 rs3733693 rs2740582 rs2697541 rs17096961 rs35245446 rs2740583 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q91XZ2}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q91XZ2}.


uniprotID: Q9HCL0
geneSymbol: PCDH18
name: Protocadherin-18
length: 1135
go: ENSG00000189184;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; brain development [GO:0007420]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCL0-1; Sequence=Displayed; Name=2; IsoId=Q9HCL0-2; Sequence=VSP_035648; 


uniprotID: P05165
geneSymbol: PCCA
reactome: R-HSA-196780;R-HSA-3371599;R-HSA-71032;
pdb: 2CQY;2JKU;
length: 728
go: ENSG00000175198;
drug: DB00121;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:16023992}.
name:
Propionyl-CoA carboxylase alpha chain, mitochondrial (PCCase subunit alpha) (EC 6.4.1.3) (Propanoyl-CoA:carbon dioxide ligase subunit alpha)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; ATP binding [GO:0005524]; biotin binding [GO:0009374]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]; propionyl-CoA carboxylase activity [GO:0004658]; biotin metabolic process [GO:0006768]

snps:
rs794727479 rs141371306 rs202247814 rs202247815 rs375628794 rs121964958 rs794727087 rs1301904623 rs1443858896 rs35719359 rs61749895 rs118169528 rs796052018 rs771438170 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P05165-1; Sequence=Displayed; Name=2; IsoId=P05165-2; Sequence=VSP_039857; Name=3; IsoId=P05165-3; Sequence=VSP_044458; 


uniprotID: Q8N6Y1
geneSymbol: PCDH20
name: Protocadherin-20 (Protocadherin-13)
length: 951
go: ENSG00000197991;ENSG00000280165;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; RNA binding [GO:0003723]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]


uniprotID: Q6V1P9
geneSymbol: DCHS2
length: 2916
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Protocadherin-23 (Cadherin-27) (Cadherin-like protein CDHJ) (Cadherin-like protein VR8) (Protein dachsous homolog 2) (Protocadherin PCDHJ)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

snps:
rs11721758 rs10017772 rs6858712 rs7666283 rs1352714 rs11935573 rs17031394 rs28561984 rs17031279 rs6824133 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q6V1P9-1; Sequence=Displayed; Name=4; IsoId=Q6V1P9-4; Sequence=VSP_034586, VSP_034587, VSP_034588, VSP_034589, VSP_046654, VSP_046655; 


uniprotID: Q9Y5I3
geneSymbol: PCDHA1
name: Protocadherin alpha-1 (PCDH-alpha-1)
length: 950
go: ENSG00000204970;
snps: rs34575154 rs3733712 rs2240696 rs2240695
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9Y5I3-1; Sequence=Displayed; Name=2; IsoId=Q9Y5I3-2; Sequence=VSP_000670; Name=3; IsoId=Q9Y5I3-3; Sequence=VSP_000671, VSP_000672; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q9NRJ7
geneSymbol: PCDHB16
name: Protocadherin beta-16 (PCDH-beta-16) (Protocadherin-3X)
length: 776
snps: rs17096969 rs28664170 rs17844648 rs17844651 rs2697532
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:


uniprotID: Q9BZA8
geneSymbol: PCDH11Y
length: 1340
go: ENSG00000099715;
snps: rs2524543 rs2563389 rs2556900
name:
Protocadherin-11 Y-linked (Protocadherin-11) (Protocadherin on the Y chromosome) (PCDH-Y) (Protocadherin prostate cancer) (Protocadherin-PC) (Protocadherin-22)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9BZA8-1; Sequence=Displayed; Name=2; IsoId=Q9BZA8-2; Sequence=VSP_017998, VSP_017999; Name=3; IsoId=Q9BZA8-3; Sequence=VSP_017996, VSP_017998, VSP_017999; Name=4; IsoId=Q9BZA8-4; Sequence=VSP_017997, VSP_018000; 

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


uniprotID: Q9Y5H4
geneSymbol: PCDHGA1
name: Protocadherin gamma-A1 (PCDH-gamma-A1)
length: 931
go: ENSG00000204956;
snps: rs2472647 rs17097185
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5H4-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5H4-2; Sequence=VSP_008659, VSP_008660; 


uniprotID: Q9Y5H1
geneSymbol: PCDHGA2
name: Protocadherin gamma-A2 (PCDH-gamma-A2)
length: 932
snps: rs6878145
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5H1-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5H1-2; Sequence=VSP_008661, VSP_008662; 


uniprotID: Q9Y5G9
geneSymbol: PCDHGA4
name: Protocadherin gamma-A4 (PCDH-gamma-A4)
length: 962
go: ENSG00000262576;
snps: rs11575949 rs4329068 rs11575951
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5G9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G9-2; Sequence=VSP_008665, VSP_008666; 


uniprotID: Q9Y5H6
geneSymbol: PCDHA8
name: Protocadherin alpha-8 (PCDH-alpha-8)
length: 950
go: ENSG00000204962;
snps: rs3756331 rs525886 rs6580012
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5H6-1; Sequence=Displayed; Name=2; IsoId=Q9Y5H6-2; Sequence=VSP_000686, VSP_000687; 


uniprotID: Q9Y5H5
geneSymbol: PCDHA9
name: Protocadherin alpha-9 (PCDH-alpha-9)
length: 950
go: ENSG00000204961;
snps: rs251353 rs56926451 rs364101 rs251354 rs251355 rs59056023 rs369636 rs369639
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5H5-1; Sequence=Displayed; Name=2; IsoId=Q9Y5H5-2; Sequence=VSP_000688, VSP_000689; 


uniprotID: Q9BSM1
geneSymbol: PCGF1
pdb: 4HPL;4HPM;5JH5;
name: Polycomb group RING finger protein 1 (Nervous system Polycomb-1) (NSPc1) (RING finger protein 68)
length: 259
go: ENSG00000115289;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15620699, ECO:0000269|PubMed:21282530}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; metal ion binding [GO:0046872]; promoter-specific chromatin binding [GO:1990841]; protein C-terminus binding [GO:0008022]; chromatin silencing [GO:0006342]; histone H2A monoubiquitination [GO:0035518]; histone H2A-K119 monoubiquitination [GO:0036353]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSM1-1; Sequence=Displayed; Name=2; IsoId=Q9BSM1-3; Sequence=VSP_036393; 


uniprotID: Q96MG8
geneSymbol: PCMTD1
name: Protein-L-isoaspartate O-methyltransferase domain-containing protein 1
length: 357
go: ENSG00000168300;
snps: rs12335014
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; protein-L-isoaspartate (D-aspartate) O-methyltransferase activity [GO:0004719]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MG8-1; Sequence=Displayed; Name=2; IsoId=Q96MG8-2; Sequence=VSP_008549; Note=Incomplete sequence. No experimental confirmation available.; 


uniprotID: O95613
geneSymbol: PCNT
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Pericentrin (Kendrin) (Pericentrin-B)
length: 3336
go: ENSG00000160299;
sequence:

opentargets:
centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; calmodulin binding [GO:0005516]; protein-containing complex scaffold activity [GO:0032947]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule cytoskeleton organization [GO:0000226]; mitotic spindle organization [GO:0007052]; positive regulation of intracellular protein transport [GO:0090316]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; signal transduction [GO:0007165]

snps:
rs2249060 rs2839223 rs2839227 rs6518289 rs7279204 rs35044802 rs143796569 rs6518291 rs35940413 rs34268261 rs34813667 rs2839245 rs35978208 rs1044998 rs34151633 rs35346764 rs2070425 rs35848602 rs7277175 rs371893416 rs2839256 rs8131693 rs2070426 rs743346 rs2073376 rs35147998 rs35881595 rs4818842 rs2073380 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95613-1; Sequence=Displayed; Name=2; IsoId=O95613-2; Sequence=VSP_040104, VSP_040105; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:10823944, ECO:0000269|PubMed:11171385, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:18955030, ECO:0000269|PubMed:22797915, ECO:0000269|PubMed:27137183}. Note=Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome.


uniprotID: Q16549
geneSymbol: PCSK7
length: 785
go: ENSG00000160613;
snps: rs608620 rs45539233 rs45574931 rs473131 rs473093
name:
Proprotein convertase subtilisin/kexin type 7 (EC 3.4.21.-) (Lymphoma proprotein convertase) (Prohormone convertase 7) (Proprotein convertase 7) (PC7) (Proprotein convertase 8) (PC8) (hPC8) (Subtilisin/kexin-like protease PC7)

sequence:

opentargets:
integral component of Golgi membrane [GO:0030173]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; peptide hormone processing [GO:0016486]; protein processing [GO:0016485]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Seems to be localized intracellularly to the trans Golgi network. {ECO:0000250}.


uniprotID: O43653
geneSymbol: PSCA
reactome: R-HSA-163125;
name: Prostate stem cell antigen
length: 114
go: ENSG00000167653;
snps: rs2294008 rs3736001
sequence:
MAGLALQPGTALLCYSCKAQVSNEDCLQVENCTQLGEQCWTARIRAVGLLTVISKGCSLNCVDDSQDYYVGKKNITCCDTDLCNASGAHALQPAAAILALLPALGLLLWGPGQL

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886]; acetylcholine receptor binding [GO:0033130]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; regulation of neurotransmitter receptor activity [GO:0099601]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9465086}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:9465086}.


uniprotID: A6NKB5
geneSymbol: PCNX2
name: Pecanex-like protein 2 (Pecanex homolog protein 2)
length: 2137
go: ENSG00000135749;
opentargets: integral component of membrane [GO:0016021]
snps: rs1033325 rs10910120 rs56231757 rs41309639
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A6NKB5-1; Sequence=Displayed; Name=2; IsoId=A6NKB5-2; Sequence=VSP_033607, VSP_033608, VSP_033609; Name=3; IsoId=A6NKB5-3; Sequence=VSP_033606, VSP_033610, VSP_033611; Note=No experimental confirmation available.; Name=5; IsoId=A6NKB5-5; Sequence=VSP_035048, VSP_035049, VSP_035050; Name=4; IsoId=A6NKB5-4; Sequence=VSP_033605; Note=No experimental confirmation available.; 


uniprotID: Q9H6A9
geneSymbol: PCNX3
name: Pecanex-like protein 3 (Pecanex homolog protein 3)
length: 2034
go: ENSG00000197136;
opentargets: integral component of membrane [GO:0016021]
snps: rs1151489 rs1193851 rs56232198 rs1144790 rs7114037
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H6A9-1; Sequence=Displayed; Name=2; IsoId=Q9H6A9-2; Sequence=VSP_033242, VSP_033243; Note=No experimental confirmation available.; Name=3; IsoId=Q9H6A9-3; Sequence=VSP_033244, VSP_033245; Note=No experimental confirmation available.; 


uniprotID: Q63HM2
geneSymbol: PCNX4
length: 1172
go: ENSG00000126773;
opentargets: integral component of membrane [GO:0016021]
snps: rs3742642 rs12895606 rs167437
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Pecanex-like protein 4 (Hepatitis C virus F protein-binding protein 2) (HCV F protein-binding protein 2) (Pecanex homolog protein 4)

sequence:


uniprotID: P49585
geneSymbol: PCYT1A
reactome: R-HSA-1483191;
length: 367
go: ENSG00000161217;
drug: DB00122;DB00709;
snps: rs587777191 rs587777189 rs587777194 rs587777190 rs587777195 rs540053239
name:
Choline-phosphate cytidylyltransferase A (EC 2.7.7.15) (CCT-alpha) (CTP:phosphocholine cytidylyltransferase A) (CCT A) (CT A) (Phosphorylcholine transferase A)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; glycogen granule [GO:0042587]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; choline-phosphate cytidylyltransferase activity [GO:0004105]; phosphatidylcholine binding [GO:0031210]; protein homodimerization activity [GO:0042803]; CDP-choline pathway [GO:0006657]; phosphatidylcholine biosynthetic process [GO:0006656]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=It can interconvert between an inactive cytosolic form and an active membrane-bound form. {ECO:0000250}.


uniprotID: Q99447
geneSymbol: PCYT2
reactome: R-HSA-1483213;
pdb: 3ELB;4XSV;
length: 389
go: ENSG00000185813;
drug: DB00709;
name:
Ethanolamine-phosphate cytidylyltransferase (EC 2.7.7.14) (CTP:phosphoethanolamine cytidylyltransferase) (Phosphorylethanolamine transferase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; ethanolamine-phosphate cytidylyltransferase activity [GO:0004306]; phosphatidylethanolamine biosynthetic process [GO:0006646]; phospholipid biosynthetic process [GO:0008654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q99447-1; Sequence=Displayed; Name=2; IsoId=Q99447-2; Sequence=VSP_045131; Name=3; IsoId=Q99447-3; Sequence=VSP_046844; Note=No experimental confirmation available. Gene prediction based on cDNA data.; Name=4; IsoId=Q99447-4; Sequence=VSP_054615; Note=No experimental confirmation available.; 


uniprotID: Q9NZQ7
geneSymbol: CD274
reactome: R-HSA-389948;
length: 290
go: ENSG00000120217;
drug: DB11595;
pdb:
3BIK;3BIS;3FN3;3SBW;4Z18;4ZQK;5C3T;5GGT;5GRJ;5IUS;5J89;5J8O;5JDR;5JDS;5N2D;5N2F;5NIU;5NIX;5O45;5O4Y;5X8L;5X8M;5XJ4;5XXY;

name:
Programmed cell death 1 ligand 1 (PD-L1) (PDCD1 ligand 1) (Programmed death ligand 1) (B7 homolog 1) (B7-H1) (CD antigen CD274)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; cell surface receptor signaling pathway [GO:0007166]; cellular response to lipopolysaccharide [GO:0071222]; immune response [GO:0006955]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of CD4-positive, alpha-beta T cell proliferation [GO:2000562]; negative regulation of CD8-positive, alpha-beta T cell activation [GO:2001186]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of tumor necrosis factor superfamily cytokine production [GO:1903556]; positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process [GO:1905404]; positive regulation of cell migration [GO:0030335]; positive regulation of interleukin-10 secretion [GO:2001181]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tolerance induction to tumor cell [GO:0002845]; response to cytokine [GO:0034097]; signal transduction [GO:0007165]; T cell costimulation [GO:0031295]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=PD-L1I; IsoId=Q9NZQ7-1; Sequence=Displayed; Name=2; Synonyms=PD-L1II; IsoId=Q9NZQ7-2; Sequence=VSP_013735; Name=3; IsoId=Q9NZQ7-3; Sequence=VSP_013736, VSP_013737; 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: Cell membrane {ECO:0000269|PubMed:28813410, ECO:0000269|PubMed:28813417}; Single-pass type I membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:28813417}; Single-pass type I membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000269|PubMed:28813417}; Single-pass type I membrane protein {ECO:0000255}. Note=Associates with CMTM6 at recycling endosomes, where it is protected from being targeted for lysosomal degradation. {ECO:0000269|PubMed:28813417}.; SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:15780196}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Endomembrane system {ECO:0000269|PubMed:15780196}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q9BQ51
geneSymbol: PDCD1LG2
reactome: R-HSA-389948;
length: 273
go: ENSG00000197646;
snps: rs12339171 rs7854303 rs7854413
name:
Programmed cell death 1 ligand 2 (PD-1 ligand 2) (PD-L2) (PDCD1 ligand 2) (Programmed death ligand 2) (Butyrophilin B7-DC) (B7-DC) (CD antigen CD273)

sequence:

opentargets:
cell surface [GO:0009986]; endomembrane system [GO:0012505]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell surface receptor signaling pathway [GO:0007166]; cellular response to lipopolysaccharide [GO:0071222]; immune response [GO:0006955]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-10 production [GO:0032693]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of T cell proliferation [GO:0042102]; signal transduction [GO:0007165]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=PD-L2I, Type I; IsoId=Q9BQ51-1; Sequence=Displayed; Name=2; Synonyms=PD-L2II, Type II; IsoId=Q9BQ51-2; Sequence=VSP_013740; Name=3; Synonyms=PD-L2III, Type III; IsoId=Q9BQ51-3; Sequence=VSP_013738, VSP_013739; 

location:
SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305|PubMed:15253154}.; SUBCELLULAR LOCATION: Isoform 2: Endomembrane system {ECO:0000269|PubMed:15253154}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:15253154}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q9WUL5, ECO:0000305|PubMed:15340161}.


uniprotID: Q13258
geneSymbol: PTGDR
reactome: R-HSA-391908;R-HSA-418555;
name: Prostaglandin D2 receptor (PGD receptor) (PGD2 receptor) (Prostanoid DP receptor)
length: 359
go: ENSG00000168229;
drug: DB00716;
snps: rs41311442 rs41312444 rs41312504 rs41312506
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; prostaglandin D receptor activity [GO:0004956]; prostaglandin J receptor activity [GO:0001785]; adenosine metabolic process [GO:0046085]; cellular response to prostaglandin D stimulus [GO:0071799]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; male sex determination [GO:0030238]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; sleep [GO:0030431]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13258-1; Sequence=Displayed; Name=2; IsoId=Q13258-2; Sequence=VSP_055141, VSP_055142; Note=No experimental confirmation available. Derived from EST data.; 


uniprotID: O00487
geneSymbol: PSMD14
length: 310
go: ENSG00000115233;
reactome:
R-HSA-1169091;R-HSA-1234176;R-HSA-1236974;R-HSA-1236978;R-HSA-174084;R-HSA-174113;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-180534;R-HSA-180585;R-HSA-187577;R-HSA-195253;R-HSA-202424;R-HSA-211733;R-HSA-2467813;R-HSA-2871837;R-HSA-349425;R-HSA-350562;R-HSA-382556;R-HSA-450408;R-HSA-4608870;R-HSA-4641257;R-HSA-4641258;R-HSA-5358346;R-HSA-5362768;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5632684;R-HSA-5658442;R-HSA-5668541;R-HSA-5676590;R-HSA-5678895;R-HSA-5687128;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;R-HSA-6798695;R-HSA-68827;R-HSA-68949;R-HSA-69017;R-HSA-69229;R-HSA-69481;R-HSA-69601;R-HSA-8852276;R-HSA-8854050;R-HSA-8939236;R-HSA-8939902;R-HSA-8941858;R-HSA-8948751;R-HSA-8951664;R-HSA-9010553;R-HSA-9020702;R-HSA-9604323;R-HSA-983168;

name:
26S proteasome non-ATPase regulatory subunit 14 (EC 3.4.19.-) (26S proteasome regulatory subunit RPN11) (26S proteasome-associated PAD1 homolog 1)

sequence:

opentargets:
cytosol [GO:0005829]; cytosolic proteasome complex [GO:0031597]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle, lid subcomplex [GO:0008541]; secretory granule lumen [GO:0034774]; endopeptidase activator activity [GO:0061133]; Lys63-specific deubiquitinase activity [GO:0061578]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; proteasome binding [GO:0070628]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein K63-linked deubiquitination [GO:0070536]; regulation of proteasomal protein catabolic process [GO:0061136]; response to ethanol [GO:0045471]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: P27815
geneSymbol: PDE4A
reactome: R-HSA-180024;R-HSA-418555;
pdb: 2QYK;3I8V;3TVX;
name: cAMP-specific 3',5'-cyclic phosphodiesterase 4A (EC 3.1.4.53) (DPDE2) (PDE46)
length: 886
go: ENSG00000065989;
snps: rs1051738 rs2230190
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; cAMP binding [GO:0030552]; metal ion binding [GO:0046872]; cAMP catabolic process [GO:0006198]; cellular response to drug [GO:0035690]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of cAMP-mediated signaling [GO:0043949]; regulation of protein kinase A signaling [GO:0010738]; sensory perception of smell [GO:0007608]; signal transduction [GO:0007165]

drug:
DB06842;DB05676;DB00201;DB05219;DB00975;DB06751;DB00651;DB00824;DB05266;DB01088;DB01303;DB05876;DB00806;DB01791;DB01656;DB00277;DB08811;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=PDE4A4, PDE4A4B, PDE46; IsoId=P27815-1; Sequence=Displayed; Name=2; Synonyms=TM3, PDE4A11; IsoId=P27815-2; Sequence=VSP_004556; Name=3; Synonyms=PDE4A7, PDE4A6; IsoId=P27815-3; Sequence=VSP_004557; Name=4; Synonyms=PDE4A1, RD1; IsoId=P27815-4; Sequence=VSP_004558; Name=5; Synonyms=PDE4A8A, 2EL; IsoId=P27815-5; Sequence=VSP_004559, VSP_004560, VSP_004561; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Probably represents a non-functional splice isoform.; Name=6; Synonyms=PDE4A10; IsoId=P27815-6; Sequence=VSP_038185; Name=7; Synonyms=PDE4A8; IsoId=P27815-7; Sequence=VSP_038186; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, perinuclear region.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, perinuclear region. Cell projection, ruffle membrane.; SUBCELLULAR LOCATION: Isoform 4: Membrane; Peripheral membrane protein. Note=Isoform 4 has propensity for association with membranes.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm, perinuclear region.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm. Membrane. Note=Predominantly cytoplasmic.


uniprotID: Q01064
geneSymbol: PDE1B
reactome: R-HSA-111957;R-HSA-418457;R-HSA-418555;
pdb: 1LXR;1TAZ;4NPV;4NPW;5B25;5UOY;5UP0;5W6E;
length: 536
go: ENSG00000123360;
drug: DB01244;DB00201;DB01023;DB00622;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B (Cam-PDE 1B) (EC 3.1.4.17) (63 kDa Cam-PDE)

sequence:

opentargets:
cytosol [GO:0005829]; neuronal cell body [GO:0043025]; 3',5'-cyclic-AMP phosphodiesterase activity [GO:0004115]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; calmodulin binding [GO:0005516]; calmodulin-dependent cyclic-nucleotide phosphodiesterase activity [GO:0004117]; metal ion binding [GO:0046872]; apoptotic process [GO:0006915]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; cellular response to macrophage colony-stimulating factor stimulus [GO:0036006]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; monocyte differentiation [GO:0030224]; regulation of dopamine metabolic process [GO:0042053]; response to amphetamine [GO:0001975]; serotonin metabolic process [GO:0042428]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=PDE1B1; IsoId=Q01064-1; Sequence=Displayed; Name=PDE1B2; IsoId=Q01064-2; Sequence=VSP_038643, VSP_038644; 


uniprotID: P04085
geneSymbol: PDGFA
pdb: 3MJK;
length: 211
go: ENSG00000197461;
location: SUBCELLULAR LOCATION: Secreted. Note=Released by platelets upon wounding.
reactome:
R-HSA-114608;R-HSA-1257604;R-HSA-186763;R-HSA-186797;R-HSA-2219530;R-HSA-3000171;R-HSA-5673001;R-HSA-6811558;

name:
Platelet-derived growth factor subunit A (PDGF subunit A) (PDGF-1) (Platelet-derived growth factor A chain) (Platelet-derived growth factor alpha polypeptide)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; microvillus [GO:0005902]; platelet alpha granule lumen [GO:0031093]; collagen binding [GO:0005518]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; platelet-derived growth factor binding [GO:0048407]; platelet-derived growth factor receptor binding [GO:0005161]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; actin cytoskeleton organization [GO:0030036]; angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; cell activation [GO:0001775]; cell projection assembly [GO:0030031]; cell-cell signaling [GO:0007267]; embryonic lung development [GO:1990401]; extracellular matrix organization [GO:0030198]; hair follicle development [GO:0001942]; lung alveolus development [GO:0048286]; MAPK cascade [GO:0000165]; negative chemotaxis [GO:0050919]; negative regulation of phosphatidylinositol biosynthetic process [GO:0010512]; negative regulation of platelet activation [GO:0010544]; platelet degranulation [GO:0002576]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cell division [GO:0051781]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway [GO:0035793]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling [GO:0060683]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of smooth muscle cell migration [GO:0014910]; response to wounding [GO:0009611]; skin development [GO:0043588]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P04085-1; Sequence=Displayed; Name=Short; IsoId=P04085-2; Sequence=VSP_004602, VSP_004603; 


uniprotID: Q9Y2S7
geneSymbol: POLDIP2
name: Polymerase delta-interacting protein 2 (38 kDa DNA polymerase delta interaction protein) (p38)
length: 368
go: ENSG00000004142;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; DNA binding [GO:0003677]; mitochondrion morphogenesis [GO:0070584]; negative regulation of macroautophagy [GO:0016242]; positive regulation of mitotic cell cycle [GO:0045931]


uniprotID: O14737
geneSymbol: PDCD5
pdb: 1YYB;2CRU;2K6B;
name: Programmed cell death protein 5 (TF-1 cell apoptosis-related protein 19) (Protein TFAR19)
length: 125
go: ENSG00000105185;
sequence:
MADEELEALRRQRLAELQAKHGDPGDAAQQEAKHREAEMRNSILAQVLDQSARARLSNLALVKPEKTKAVENYLIQMARYGQLSEKVSEQGLIEILKKVSQQTEKTTTVKFNRRKVMDSDEDDDY

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; acetyltransferase activator activity [GO:0010698]; beta-tubulin binding [GO:0048487]; DNA binding [GO:0003677]; heparin binding [GO:0008201]; apoptotic process [GO:0006915]; cellular response to transforming growth factor beta stimulus [GO:0071560]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chaperone-mediated protein folding [GO:1903645]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of gene expression [GO:0010628]; positive regulation of protein import into mitochondrial outer membrane [GO:1903638]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14737-1; Sequence=Displayed; Name=2; IsoId=O14737-2; Sequence=VSP_056203; Note=No experimental confirmation available.; 


uniprotID: Q8WWR9
geneSymbol: PPDPFL
sequence: MASVPSIGCLLARNQYYRKSSVSSVSSLTSSDSVNFIDDDKPQQGLPEVAESTWWFKSFFHSEPVLSNVRIKDLSATGSLSGRS
length: 84
go: ENSG00000168333;
opentargets: cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]
name:
Pancreatic progenitor cell differentiation and proliferation factor-like protein (Exocrine differentiation and proliferation factor-like protein)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWR9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8WWR9-2; Sequence=VSP_017651; Note=No experimental confirmation available.; Name=3; IsoId=Q8WWR9-3; Sequence=VSP_044862; Note=No experimental confirmation available.; 


uniprotID: O15530
geneSymbol: PDPK1
name: 3-phosphoinositide-dependent protein kinase 1 (hPDK1) (EC 2.7.11.1)
length: 556
go: ENSG00000140992;
drug: DB07132;DB07033;DB01933;DB00482;DB04522;DB03777;DB02010;
reactome:
R-HSA-114604;R-HSA-1257604;R-HSA-165158;R-HSA-202424;R-HSA-2730905;R-HSA-2871837;R-HSA-354192;R-HSA-389357;R-HSA-392451;R-HSA-444257;R-HSA-5218920;R-HSA-5218921;R-HSA-5607764;R-HSA-5625740;R-HSA-5674400;R-HSA-6804757;

pdb:
1H1W;1OKY;1OKZ;1UU3;1UU7;1UU8;1UU9;1UVR;1W1D;1W1G;1W1H;1Z5M;2BIY;2PE0;2PE1;2PE2;2R7B;2VKI;2XCH;2XCK;3H9O;3HRC;3HRF;3ION;3IOP;3NAX;3NAY;3NUN;3NUS;3NUU;3NUY;3ORX;3ORZ;3OTU;3PWY;3QC4;3QCQ;3QCS;3QCX;3QCY;3QD0;3QD3;3QD4;3RCJ;3RWP;3RWQ;3SC1;4A06;4A07;4AW0;4AW1;4CT1;4CT2;4RQK;4RQV;4RRV;4XX9;5ACK;5HKM;5HNG;5HO7;5HO8;5LVL;5LVM;5LVN;5LVO;5LVP;5MRD;

sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; 3-phosphoinositide-dependent protein kinase activity [GO:0004676]; ATP binding [GO:0005524]; insulin receptor binding [GO:0005158]; kinase activity [GO:0016301]; phospholipase activator activity [GO:0016004]; phospholipase binding [GO:0043274]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton organization [GO:0030036]; activation of protein kinase B activity [GO:0032148]; calcium-mediated signaling [GO:0019722]; cell migration [GO:0016477]; cellular response to brain-derived neurotrophic factor stimulus [GO:1990416]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to insulin stimulus [GO:0032869]; epidermal growth factor receptor signaling pathway [GO:0007173]; extrinsic apoptotic signaling pathway [GO:0097191]; Fc-epsilon receptor signaling pathway [GO:0038095]; focal adhesion assembly [GO:0048041]; hyperosmotic response [GO:0006972]; intracellular signal transduction [GO:0035556]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; platelet activation [GO:0030168]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of phospholipase activity [GO:0010518]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of mast cell degranulation [GO:0043304]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; type B pancreatic cell development [GO:0003323]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O15530-1; Sequence=Displayed; Name=2; IsoId=O15530-2; Sequence=VSP_004894; Name=3; IsoId=O15530-3; Sequence=VSP_004895; Name=4; IsoId=O15530-4; Sequence=VSP_041902; Name=5; IsoId=O15530-5; Sequence=VSP_044796; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Cell junction, focal adhesion. Note=Tyrosine phosphorylation seems to occur only at the cell membrane. Translocates to the cell membrane following insulin stimulation by a mechanism that involves binding to GRB14 and INSR. SRC and HSP90 promote its localization to the cell membrane. Its nuclear localization is dependent on its association with PTPN6 and its phosphorylation at Ser-396. Restricted to the nucleus in neuronal cells while in non-neuronal cells it is found in the cytoplasm. The Ser-241 phosphorylated form is distributed along the perinuclear region in neuronal cells while in non-neuronal cells it is found in both the nucleus and the cytoplasm. IGF1 transiently increases phosphorylation at Ser-241 of neuronal PDPK1, resulting in its translocation to other cellular compartments. The tyrosine-phosphorylated form colocalizes with PTK2B in focal adhesions after angiotensin II stimulation.


uniprotID: P50479
geneSymbol: PDLIM4
pdb: 2EEG;2V1W;4Q2O;
name: PDZ and LIM domain protein 4 (LIM protein RIL) (Reversion-induced LIM protein)
length: 330
go: ENSG00000131435;
snps: rs17851430 rs1050805 rs175218 rs4877
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendritic spine [GO:0043197]; early endosome lumen [GO:0031905]; early endosome membrane [GO:0031901]; filamentous actin [GO:0031941]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic membrane [GO:0045211]; recycling endosome lumen [GO:0034777]; recycling endosome membrane [GO:0055038]; stress fiber [GO:0001725]; alpha-actinin binding [GO:0051393]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; protein phosphatase binding [GO:0019903]; actin cytoskeleton reorganization [GO:0031532]; excitatory chemical synaptic transmission [GO:0098976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50479-1; Sequence=Displayed; Name=2; IsoId=P50479-2; Sequence=VSP_003124; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21636573}. Nucleus {ECO:0000269|PubMed:10826496, ECO:0000269|PubMed:21636573}. Cytoplasm {ECO:0000269|PubMed:21636573}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19307596}. Cell projection, lamellipodium {ECO:0000269|PubMed:10826496}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P36202}. Early endosome membrane {ECO:0000250|UniProtKB:P36202}; Peripheral membrane protein {ECO:0000250|UniProtKB:P36202}; Cytoplasmic side {ECO:0000250|UniProtKB:P36202}. Recycling endosome membrane {ECO:0000250|UniProtKB:P36202}; Peripheral membrane protein {ECO:0000250|UniProtKB:P36202}; Cytoplasmic side {ECO:0000250|UniProtKB:P36202}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P36202}. Note=Localizes to actin stress fibers in nonmuscle cells. Colocalizes with GRIA1 in early endosomes. Enriched in numerous but not all spine-like structures along dendritic branches. Colocalizes with actin and enriched at sites containing larger amounts of actin and alpha-actinin. Targeted efficiently to spines via its PDZ domain-mediated interaction with the alpha-actinin/actin cytoskeletal complex. Localizes to synaptosomes in brain (By similarity). Colocalizes with F-actin (PubMed:10826496). Colocalizes with TRIP6 at cell-cell contacts and lamellipodia (PubMed:10826496). In the cytoplasm, displays a fibrillar pattern with characteristic thick fibers and occasional clusters. Colocalizes with the actin stress fibers. Oxidative stress induces redistribution from cytoskeleton to cytosol (PubMed:21636573). Colocalizes with SRC at the perinuclear region, but not at focal adhesions (PubMed:19307596). {ECO:0000250|UniProtKB:P36202, ECO:0000269|PubMed:10826496, ECO:0000269|PubMed:19307596, ECO:0000269|PubMed:21636573}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:21636573}. Note=Stains more diffusely in the cytoplasm with thin fibers forming a dense mesh-like pattern. {ECO:0000269|PubMed:21636573}.


uniprotID: Q96HC4
geneSymbol: PDLIM5
reactome: R-HSA-6794361;
pdb: 2DAR;2UZC;
name: PDZ and LIM domain protein 5 (Enigma homolog) (Enigma-like PDZ and LIM domains protein)
length: 596
go: ENSG00000163110;
snps: rs2452600 rs1064238 rs966845 rs7690296 rs7690464 rs13107595
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell adherens junction [GO:0005913]; cytosol [GO:0005829]; membrane [GO:0016020]; neuron projection [GO:0043005]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; actin binding [GO:0003779]; actinin binding [GO:0042805]; cadherin binding involved in cell-cell adhesion [GO:0098641]; metal ion binding [GO:0046872]; protein kinase C binding [GO:0005080]; protein N-terminus binding [GO:0047485]; cell growth involved in cardiac muscle cell development [GO:0061049]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of synapse assembly [GO:0051963]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q96HC4-1; Sequence=Displayed; Name=2; IsoId=Q96HC4-2; Sequence=VSP_039075, VSP_039076, VSP_039077, VSP_039078; Name=3; IsoId=Q96HC4-3; Sequence=VSP_039206, VSP_039207, VSP_039077, VSP_039078; Name=4; IsoId=Q96HC4-4; Sequence=VSP_039075; Note=No experimental confirmation available.; Name=5; IsoId=Q96HC4-5; Sequence=VSP_045098, VSP_045099; Name=6; IsoId=Q96HC4-6; Sequence=VSP_039075, VSP_039076, VSP_053796; Note=No experimental confirmation available.; Name=7; IsoId=Q96HC4-7; Sequence=VSP_039075, VSP_039076, VSP_053797; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Detected both at presynaptic and postsynaptic sites. {ECO:0000250}.


uniprotID: Q9P2J9
geneSymbol: PDP2
reactome: R-HSA-204174;
length: 529
go: ENSG00000172840;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial (PDP 2) (EC 3.1.3.43) (Pyruvate dehydrogenase phosphatase catalytic subunit 2) (PDPC 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; [pyruvate dehydrogenase (lipoamide)] phosphatase activity [GO:0004741]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; regulation of acetyl-CoA biosynthetic process from pyruvate [GO:0010510]


uniprotID: Q6PK18
geneSymbol: OGFOD3
name: 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 (EC 1.14.11.-)
length: 319
go: ENSG00000181396;
snps: rs8072110 rs17852152
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; dioxygenase activity [GO:0051213]; iron ion binding [GO:0005506]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [GO:0016705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PK18-1; Sequence=Displayed; Name=2; IsoId=Q6PK18-2; Sequence=VSP_032462; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O15527
geneSymbol: OGG1
reactome: R-HSA-110328;R-HSA-110329;R-HSA-110330;R-HSA-110331;R-HSA-110357;R-HSA-5649702;
length: 345
go: ENSG00000114026;
pdb:
1EBM;1FN7;1HU0;1KO9;1LWV;1LWW;1LWY;1M3H;1M3Q;1N39;1N3A;1N3C;1YQK;1YQL;1YQM;1YQR;2I5W;2NOB;2NOE;2NOF;2NOH;2NOI;2NOL;2NOZ;2XHI;3IH7;3KTU;5AN4;

name:
N-glycosylase/DNA lyase [Includes: 8-oxoguanine DNA glycosylase (EC 3.2.2.-); DNA-(apurinic or apyrimidinic site) lyase (AP lyase) (EC 4.2.99.18)]

sequence:

opentargets:
mitochondrion [GO:0005739]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity [GO:0034039]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; damaged DNA binding [GO:0003684]; DNA N-glycosylase activity [GO:0019104]; endonuclease activity [GO:0004519]; microtubule binding [GO:0008017]; oxidized purine DNA binding [GO:0032357]; oxidized purine nucleobase lesion DNA N-glycosylase activity [GO:0008534]; acute inflammatory response [GO:0002526]; aging [GO:0007568]; base-excision repair [GO:0006284]; base-excision repair, AP site formation [GO:0006285]; cellular response to cadmium ion [GO:0071276]; cellular response to DNA damage stimulus [GO:0006974]; depurination [GO:0045007]; depyrimidination [GO:0045008]; negative regulation of apoptotic process [GO:0043066]; negative regulation of double-strand break repair via single-strand annealing [GO:1901291]; nucleotide-excision repair, DNA incision [GO:0033683]; regulation of transcription, DNA-templated [GO:0006355]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to folic acid [GO:0051593]; response to light stimulus [GO:0009416]; response to oxidative stress [GO:0006979]; response to radiation [GO:0009314]; telomere maintenance via telomerase [GO:0007004]

snps:
rs772520254 rs104893751 rs17050550 rs747638147 rs56053615 rs1805373 rs3219012 rs1801128 rs3219014 rs1052133 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1A; Synonyms=Alpha; IsoId=O15527-1; Sequence=Displayed; Name=1B; IsoId=O15527-2; Sequence=VSP_003746; Name=1C; IsoId=O15527-3; Sequence=VSP_003747; Name=2A; Synonyms=Beta; IsoId=O15527-4; Sequence=VSP_003748; Name=2B; IsoId=O15527-5; Sequence=VSP_003749; Name=2C; IsoId=O15527-6; Sequence=VSP_003750, VSP_003751; Name=2D; IsoId=O15527-7; Sequence=VSP_003752; Name=2E; IsoId=O15527-8; Sequence=VSP_003753; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17148573}. Nucleus speckle {ECO:0000269|PubMed:17148573}. Nucleus matrix {ECO:0000269|PubMed:17148573}. Note=Together with APEX1 is recruited to nuclear speckles in UVA-irradiated cells.; SUBCELLULAR LOCATION: Isoform 1A: Nucleus.; SUBCELLULAR LOCATION: Isoform 2A: Mitochondrion.


uniprotID: Q9H488
geneSymbol: POFUT1
reactome: R-HSA-1912399;
pdb: 5UX6;5UXH;
length: 388
go: ENSG00000101346;
snps: rs17268666 rs35259534
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:Q6EV70}.
name:
GDP-fucose protein O-fucosyltransferase 1 (EC 2.4.1.221) (Peptide-O-fucosyltransferase 1) (O-FucT-1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; fucosyltransferase activity [GO:0008417]; peptide-O-fucosyltransferase activity [GO:0046922]; angiogenesis [GO:0001525]; fucose metabolic process [GO:0006004]; heart development [GO:0007507]; nervous system development [GO:0007399]; Notch signaling pathway [GO:0007219]; O-glycan processing [GO:0016266]; protein O-linked fucosylation [GO:0036066]; protein O-linked glycosylation [GO:0006493]; regulation of Notch signaling pathway [GO:0008593]; regulation of transcription, DNA-templated [GO:0006355]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H488-1; Sequence=Displayed; Name=2; IsoId=Q9H488-2; Sequence=VSP_001809; Note=No experimental confirmation available.; 


uniprotID: Q5TC84
geneSymbol: OGFRL1
name: Opioid growth factor receptor-like protein 1
length: 451
go: ENSG00000119900;
opentargets: membrane [GO:0016020]; opioid receptor activity [GO:0004985]
snps: rs112585190
sequence:


uniprotID: P10515
geneSymbol: DLAT
reactome: R-HSA-204174;R-HSA-389661;R-HSA-5362517;R-HSA-70268;
pdb: 1FYC;1Y8N;1Y8O;1Y8P;2DNE;2PNR;2Q8I;3B8K;3CRK;3CRL;6CT0;
length: 647
go: ENSG00000150768;
drug: DB03760;DB00157;DB03758;
snps: rs2303436 rs537057 rs537060 rs11553595 rs11553592 rs627441 rs10891314
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (EC 2.3.1.12) (70 kDa mitochondrial autoantigen of primary biliary cirrhosis) (PBC) (Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex) (M2 antigen complex 70 kDa subunit) (Pyruvate dehydrogenase complex component E2) (PDC-E2) (PDCE2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial pyruvate dehydrogenase complex [GO:0005967]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; pyruvate dehydrogenase complex [GO:0045254]; dihydrolipoyllysine-residue acetyltransferase activity [GO:0004742]; identical protein binding [GO:0042802]; acetyl-CoA biosynthetic process from pyruvate [GO:0006086]; glucose metabolic process [GO:0006006]; sleep [GO:0030431]; tricarboxylic acid cycle [GO:0006099]


uniprotID: O60809
geneSymbol: PRAMEF10
name: PRAME family member 10
length: 474
go: ENSG00000187545;
snps: rs3121398 rs2797709 rs848424 rs1736772
sequence:

opentargets:
cytoplasm [GO:0005737]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell differentiation [GO:0045596]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]


uniprotID: O95522
geneSymbol: PRAMEF12
name: PRAME family member 12
length: 483
go: ENSG00000116726;
snps: rs17346571 rs1812242
sequence:

opentargets:
cytoplasm [GO:0005737]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell differentiation [GO:0045596]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]


uniprotID: Q5VWM6
geneSymbol: PRAMEF13
name: Putative PRAME family member 13
length: 474
go: ENSG00000279169;
sequence:

opentargets:
cytoplasm [GO:0005737]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell differentiation [GO:0045596]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]


uniprotID: O60811
geneSymbol: PRAMEF2
name: PRAME family member 2
length: 474
go: ENSG00000120952;
sequence:

snps:
rs9661554 rs3204790 rs17038657 rs9659529 rs9728577 rs142476002 rs17038667 rs3204805 rs17038692 rs12139546 rs17404799 rs1063784 rs12139550 rs1063787 rs1063788 rs1063796 


uniprotID: Q5VXH4
geneSymbol: PRAMEF6
name: PRAME family member 6
length: 476
go: ENSG00000232423;
sequence:


uniprotID: Q14982
geneSymbol: OPCML
reactome: R-HSA-163125;
pdb: 5UV6;
length: 345
go: ENSG00000183715;
snps: rs137852691
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
name:
Opioid-binding protein/cell adhesion molecule (OBCAM) (OPCML) (Opioid-binding cell adhesion molecule) (IgLON family member 1)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14982-1; Sequence=Displayed; Name=2; IsoId=Q14982-2; Sequence=VSP_043440; Name=3; IsoId=Q14982-3; Sequence=VSP_047730; Name=4; IsoId=Q14982-4; Sequence=VSP_054155; Note=No experimental confirmation available.; 


uniprotID: Q86WS3
geneSymbol: OOSP2
name: Oocyte-secreted protein 2 (Placenta-specific 1-like protein) (Protein TMEM122)
length: 158
go: ENSG00000149507;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MALEVLMLLAVLIWTGAENLHVKISCSLDWLMVSVIPVAESRNLYIFADELHLGMGCPANRIHTYVYEFIYLVRDCGIRTRVVSEETLLFQTELYFTPRNIDHDPQEIHLECSTSRKSVWLTPVSTENEIKLDPSPFIADFQTTAEELGLLSSSPNLL


uniprotID: Q9Y236
geneSymbol: OSGIN2
name: Oxidative stress-induced growth inhibitor 2 (hT41)
length: 505
go: ENSG00000164823;
snps: rs35542900 rs35599414
sequence:

opentargets:
growth factor activity [GO:0008083]; meiotic cell cycle [GO:0051321]; negative regulation of cell growth [GO:0030308]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y236-1; Sequence=Displayed; Name=2; IsoId=Q9Y236-2; Sequence=VSP_041210; Note=Ref.3 (AAH31054) sequence has a frameshift in position 3.; 


uniprotID: Q96G91
geneSymbol: P2RY11
reactome: R-HSA-416476;R-HSA-417957;R-HSA-418555;
pdb: 2B6S;
name: P2Y purinoceptor 11 (P2Y11)
length: 374
go: ENSG00000244165;
snps: rs3745601
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; ATP-activated adenosine receptor activity [GO:0045031]; G protein-coupled purinergic nucleotide receptor activity [GO:0045028]; neurotransmitter receptor activity [GO:0030594]; signaling receptor activity [GO:0038023]; activation of adenylate cyclase activity [GO:0007190]; calcium-mediated signaling [GO:0019722]; cellular response to ATP [GO:0071318]; defense response [GO:0006952]; G protein-coupled receptor signaling pathway [GO:0007186]; neuronal signal transduction [GO:0023041]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]


uniprotID: P09131
geneSymbol: SLC10A3
name: P3 protein (Solute carrier family 10 member 3)
length: 477
go: ENSG00000126903;
snps: rs35381503
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; symporter activity [GO:0015293]; response to retinoic acid [GO:0032526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09131-1; Sequence=Displayed; Name=2; IsoId=P09131-2; Sequence=VSP_043669; Note=No experimental confirmation available.; 


uniprotID: Q6IN85
geneSymbol: PPP4R3A
name: Serine/threonine-protein phosphatase 4 regulatory subunit 3A (SMEK homolog 1)
length: 833
go: ENSG00000100796;
opentargets: cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6IN85-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6IN85-2; Sequence=VSP_021253; Note=No experimental confirmation available.; Name=4; IsoId=Q6IN85-4; Sequence=VSP_021252; Note=No experimental confirmation available.; Name=5; IsoId=Q6IN85-5; Sequence=VSP_021253, VSP_021256; Note=No experimental confirmation available.; 

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


uniprotID: Q92569
geneSymbol: PIK3R3
length: 461
go: ENSG00000117461;
drug: DB01064;DB05210;
snps: rs785467
reactome:
R-HSA-114604;R-HSA-1257604;R-HSA-1266695;R-HSA-1433557;R-HSA-1660499;R-HSA-2219530;R-HSA-388841;R-HSA-389357;R-HSA-416476;R-HSA-416482;R-HSA-512988;R-HSA-6811558;R-HSA-8853659;R-HSA-912526;R-HSA-912631;

name:
Phosphatidylinositol 3-kinase regulatory subunit gamma (PI3-kinase regulatory subunit gamma) (PI3K regulatory subunit gamma) (PtdIns-3-kinase regulatory subunit gamma) (Phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma) (PI3-kinase subunit p55-gamma) (PtdIns-3-kinase regulatory subunit p55-gamma) (p55PIK)

sequence:

opentargets:
cytosol [GO:0005829]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; phosphotyrosine residue binding [GO:0001784]; cell migration involved in sprouting angiogenesis [GO:0002042]; insulin receptor signaling pathway [GO:0008286]; phosphatidylinositol phosphorylation [GO:0046854]; positive regulation of cell migration [GO:0030335]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of protein phosphorylation [GO:0001934]; protein kinase B signaling [GO:0043491]; regulation of phosphatidylinositol 3-kinase activity [GO:0043551]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92569-1; Sequence=Displayed; Name=2; IsoId=Q92569-2; Sequence=VSP_004714; Name=3; IsoId=Q92569-3; Sequence=VSP_004713, VSP_004714; 


uniprotID: Q9Y5P8
geneSymbol: PPP2R3B
reactome: R-HSA-113501;R-HSA-69231;R-HSA-69273;
pdb: 4I5L;4I5N;4MEW;
length: 575
go: ENSG00000167393;
snps: rs3813594 rs1133520
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10629059}.
name:
Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta (PP2A subunit B isoform PR48) (Protein phosphatase 2A 48 kDa regulatory subunit)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; calcium ion binding [GO:0005509]; phosphoprotein phosphatase activity [GO:0004721]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine phosphatase activity [GO:0004722]; cell cycle arrest [GO:0007050]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5P8-1; Sequence=Displayed; Name=2; IsoId=Q9Y5P8-2; Sequence=VSP_037310; 


uniprotID: Q969Q6
geneSymbol: PPP2R3C
length: 453
go: ENSG00000092020;
name:
Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma (Protein phosphatase subunit G5PR) (Rhabdomyosarcoma antigen MU-RMS-40.6A/6C)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; spindle [GO:0005819]; metal ion binding [GO:0046872]; activation of protein kinase activity [GO:0032147]; B cell homeostasis [GO:0001782]; cortical cytoskeleton organization [GO:0030865]; microtubule cytoskeleton organization [GO:0000226]; positive regulation of B cell differentiation [GO:0045579]; regulation of antimicrobial humoral response [GO:0002759]; regulation of mitochondrial depolarization [GO:0051900]; spleen development [GO:0048536]; T cell homeostasis [GO:0043029]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969Q6-1; Sequence=Displayed; Name=2; IsoId=Q969Q6-2; Sequence=VSP_023113; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15820313}. Cytoplasm {ECO:0000269|PubMed:15820313}. Note=Excluded from the nucleoli. Localization is cell cycle-dependent. Localizes to the cytoplasm during cytokinesis. {ECO:0000269|PubMed:15820313}.


uniprotID: Q53H96
geneSymbol: PYCR3
reactome: R-HSA-70614;
length: 274
go: ENSG00000104524;
drug: DB00172;
snps: rs11549789 rs2242089 rs2242090
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23024808}.
name:
Pyrroline-5-carboxylate reductase 3 (P5C reductase 3) (P5CR 3) (EC 1.5.1.2) (Pyrroline-5-carboxylate reductase-like protein)

sequence:

opentargets:
cytosol [GO:0005829]; pyrroline-5-carboxylate reductase activity [GO:0004735]; cellular amino acid biosynthetic process [GO:0008652]; L-proline biosynthetic process [GO:0055129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53H96-1; Sequence=Displayed; Name=2; IsoId=Q53H96-2; Sequence=VSP_057219; Note=No experimental confirmation available.; 


uniprotID: Q86YP4
geneSymbol: GATAD2A
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;
pdb: 2L2L;
name: Transcriptional repressor p66-alpha (Hp66alpha) (GATA zinc finger domain-containing protein 2A)
length: 633
go: ENSG00000167491;
snps: rs10426883 rs2288851
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein binding, bridging [GO:0030674]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; DNA methylation [GO:0006306]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86YP4-1; Sequence=Displayed; Name=2; IsoId=Q86YP4-2; Sequence=VSP_010929; Note=No experimental confirmation available.; Name=3; IsoId=Q86YP4-3; Sequence=VSP_053410; Note=No experimental confirmation available.; 

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


uniprotID: P53816
geneSymbol: PLA2G16
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;
pdb: 2KYT;4DOT;4FA0;4Q95;
length: 162
go: ENSG00000176485;
name:
HRAS-like suppressor 3 (HRSL3) (EC 3.1.1.32) (EC 3.1.1.4) (Adipose-specific phospholipase A2) (AdPLA) (Group XVI phospholipase A1/A2) (H-rev 107 protein homolog) (H-REV107) (HREV107-1) (HRAS-like suppressor 1) (HREV107-3) (Renal carcinoma antigen NY-REN-65)

sequence:
MRAPIPEPKPGDLIEIFRPFYRHWAIYVGDGYVVHLAPPSEVAGAGAASVMSALTDKAIVKKELLYDVAGSDKYQVNNKHDDKYSPLPCSKIIQRAEELVGQEVLYKLTSENCEHFVNELRYGVARSDQVRDVIIAASVAGMGLAAMSLIGVMFSRNKRQKQ

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; 1-acyl-2-lysophosphatidylserine acylhydrolase activity [GO:0052740]; phosphatidylserine 1-acylhydrolase activity [GO:0052739]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; transferase activity, transferring acyl groups [GO:0016746]; ether lipid metabolic process [GO:0046485]; lipid catabolic process [GO:0016042]; negative regulation of cell cycle [GO:0045786]; peroxisome organization [GO:0007031]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid biosynthetic process [GO:0008654]; phospholipid metabolic process [GO:0006644]; regulation of adipose tissue development [GO:1904177]; response to bacterium [GO:0009617]; triglyceride metabolic process [GO:0006641]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:22605381}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:17374643}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q8R3U1}. Peroxisome membrane {ECO:0000250|UniProtKB:Q8R3U1}.


uniprotID: O15350
geneSymbol: TP73
reactome: R-HSA-139915;R-HSA-6803204;R-HSA-6803205;R-HSA-6803207;R-HSA-6803211;R-HSA-6804759;R-HSA-8939236;
name: Tumor protein p73 (p53-like transcription factor) (p53-related protein)
length: 636
go: ENSG00000078900;
pdb:
1COK;1DXS;2KBY;2MPS;2NB1;2WQI;2WQJ;2WTT;2XWC;3VD0;3VD1;3VD2;4A63;4G82;4G83;4GUO;4GUQ;5HOB;5HOC;5KBD;6FGS;

sequence:

opentargets:
cell junction [GO:0030054]; chromatin [GO:0000785]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; MDM2/MDM4 family protein binding [GO:0097371]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; activation of MAPK activity [GO:0000187]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; 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]; kidney development [GO:0001822]; mismatch repair [GO:0006298]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron differentiation [GO:0045665]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein tetramerization [GO:0051262]; regulation of apoptotic process [GO:0042981]; regulation of gene expression [GO:0010468]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of mitotic cell cycle [GO:0007346]; regulation of signal transduction by p53 class mediator [GO:1901796]; response to drug [GO:0042493]; response to organonitrogen compound [GO:0010243]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=12;  Name=Alpha; IsoId=O15350-1; Sequence=Displayed; Name=Beta; IsoId=O15350-2; Sequence=VSP_006539; Note=Produced by alternative splicing of isoform Alpha.; Name=Gamma; IsoId=O15350-3; Sequence=VSP_006540, VSP_006541; Note=Produced by alternative splicing of isoform Alpha. The splicing of exon 11 results in a frameshift from the original reading frame.; Name=Delta; IsoId=O15350-4; Sequence=VSP_006542, VSP_006543; Note=Produced by alternative splicing of isoform Alpha.; Name=Epsilon; IsoId=O15350-5; Sequence=VSP_006544, VSP_006545; Note=Produced by alternative splicing of isoform Alpha. The splicing of exon 11 results in a frameshift from the original reading frame. The splicing of exon 13 reverts the reading frame to the sequence of isoform Alpha.; Name=Zeta; IsoId=O15350-6; Sequence=VSP_006546; Note=Produced by alternative splicing of isoform Alpha.; Name=dN-Alpha; IsoId=O15350-8; Sequence=VSP_014368; Note=Produced by alternative promoter usage.; Name=dN-Beta; IsoId=O15350-9; Sequence=VSP_014368, VSP_006539; Note=Produced by alternative splicing of isoform dN-Alpha.; Name=dN-Gamma; IsoId=O15350-10; Sequence=VSP_014368, VSP_006540, VSP_006541; Note=Produced by alternative splicing of isoform dN-Alpha.; Name=10; IsoId=O15350-11; Sequence=VSP_045082; Note=No experimental confirmation available.; Name=11; IsoId=O15350-12; Sequence=VSP_014368, VSP_053809; Name=12; IsoId=O15350-13; Sequence=VSP_053810; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24314664}. Cytoplasm. Note=Accumulates in the nucleus in response to DNA damage.


uniprotID: P0DN37
geneSymbol: PPIAL4G
length: 164
go: ENSG00000236334;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P62937}.
name:
Peptidyl-prolyl cis-trans isomerase A-like 4G (PPIase A-like 4G) (EC 5.2.1.8) (Peptidylprolyl cis-trans isomerase A-like 4)

sequence:
MVNSVIFFDITVDGKPLGRISIKQFADKIPKTAENFRALSTGEKGFRYKGSCFHRIIPGFMCQGGDFTHPNGTGDKSIYGEKFDDENLIRKHTGSGILSMANAGPNTNGSQFFICTAKTEWLDGKHVAFGKVKERVNIVEAMEHFGYRNSKTSKKITIADCGQF


uniprotID: Q8IXS6
geneSymbol: PALM2
name: Paralemmin-2
length: 379
go: ENSG00000243444;
opentargets: plasma membrane [GO:0005886]; regulation of cell shape [GO:0008360]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IXS6-1; Sequence=Displayed; Name=2; IsoId=Q8IXS6-2; Sequence=VSP_022566, VSP_022567; Note=No experimental confirmation available.; Name=3; Synonyms=PALM2-AKAP2; IsoId=Q9Y2D5-4; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.; Name=4; IsoId=Q9Y2D5-6; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: P09874
geneSymbol: PARP1
reactome: R-HSA-110362;R-HSA-2173795;R-HSA-3108214;R-HSA-5685939;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;
length: 1014
go: ENSG00000143799;
drug: DB04010;DB03509;DB03073;DB02498;DB02701;DB02690;DB09074;DB12332;DB07330;DB07232;
snps: rs3738708 rs1805409 rs3219057 rs2230484 rs3219062 rs1136410 rs3219145
pdb:
1UK0;1UK1;1WOK;2COK;2CR9;2CS2;2DMJ;2JVN;2L30;2L31;2N8A;2RCW;2RD6;2RIQ;3GJW;3GN7;3L3L;3L3M;3OD8;3ODA;3ODC;3ODE;4AV1;4DQY;4GV7;4HHY;4HHZ;4L6S;4OPX;4OQA;4OQB;4PJT;4R5W;4R6E;4RV6;4UND;4UXB;4XHU;4ZZZ;5A00;5DS3;5HA9;5KPN;5KPO;5KPP;5KPQ;5WRQ;5WRY;5WRZ;5WS0;5WS1;5WTC;5XSR;5XST;5XSU;6BHV;

name:
Poly [ADP-ribose] polymerase 1 (PARP-1) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 1) (ARTD1) (NAD(+) ADP-ribosyltransferase 1) (ADPRT 1) (Poly[ADP-ribose] synthase 1)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear chromosome, telomeric region [GO:0000784]; nuclear envelope [GO:0005635]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; site of DNA damage [GO:0090734]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; NAD binding [GO:0051287]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; protein ADP-ribosylase activity [GO:1990404]; protein kinase binding [GO:0019901]; protein N-terminus binding [GO:0047485]; R-SMAD binding [GO:0070412]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; ATP generation from poly-ADP-D-ribose [GO:1990966]; cellular response to amyloid-beta [GO:1904646]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to insulin stimulus [GO:0032869]; cellular response to oxidative stress [GO:0034599]; cellular response to UV [GO:0034644]; cellular response to zinc ion [GO:0071294]; DNA damage response, detection of DNA damage [GO:0042769]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; global genome nucleotide-excision repair [GO:0070911]; macrophage differentiation [GO:0030225]; mitochondrial DNA metabolic process [GO:0032042]; mitochondrial DNA repair [GO:0043504]; mitochondrion organization [GO:0007005]; negative regulation of ATP biosynthetic process [GO:2001170]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; 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]; peptidyl-serine ADP-ribosylation [GO:0018312]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of mitochondrial depolarization [GO:0051901]; positive regulation of myofibroblast differentiation [GO:1904762]; positive regulation of neuron death [GO:1901216]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of single strand break repair [GO:1903518]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; protein ADP-ribosylation [GO:0006471]; protein autoprocessing [GO:0016540]; protein modification process [GO:0036211]; protein poly-ADP-ribosylation [GO:0070212]; regulation of catalytic activity [GO:0050790]; regulation of cellular protein localization [GO:1903827]; regulation of DNA methylation [GO:0044030]; regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903376]; regulation of SMAD protein complex assembly [GO:0010990]; response to aldosterone [GO:1904044]; response to gamma radiation [GO:0010332]; signal transduction involved in regulation of gene expression [GO:0023019]; telomere maintenance [GO:0000723]; transcription by RNA polymerase II [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17177976, ECO:0000269|PubMed:21799911, ECO:0000269|PubMed:23230272}. Nucleus, nucleolus {ECO:0000269|PubMed:9518481}. Note=Localizes at sites of DNA damage. {ECO:0000269|PubMed:23230272}.


uniprotID: P55771
geneSymbol: PAX9
name: Paired box protein Pax-9
length: 341
go: ENSG00000198807;
snps: rs104894469 rs4904210
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cellular response to growth factor stimulus [GO:0071363]; endoderm development [GO:0007492]; face morphogenesis [GO:0060325]; negative regulation of transcription, DNA-templated [GO:0045892]; odontogenesis [GO:0042476]; regulation of odontogenesis [GO:0042481]


uniprotID: Q9Y5F0
geneSymbol: PCDHB13
name: Protocadherin beta-13 (PCDH-beta-13)
length: 798
go: ENSG00000187372;
snps: rs2910329
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; photoreceptor connecting cilium [GO:0032391]; photoreceptor disc membrane [GO:0097381]; postsynaptic membrane [GO:0045211]; calcium ion binding [GO:0005509]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; chemical synaptic transmission [GO:0007268]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; synapse assembly [GO:0007416]


uniprotID: Q9Y5E9
geneSymbol: PCDHB14
name: Protocadherin beta-14 (PCDH-beta-14)
length: 798
go: ENSG00000120327;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5E9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5E9-2; Sequence=VSP_055932; Note=No experimental confirmation available.; 


uniprotID: Q9Y5E8
geneSymbol: PCDHB15
name: Protocadherin beta-15 (PCDH-beta-15)
length: 787
go: ENSG00000113248;
snps: rs618506 rs618096
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; photoreceptor connecting cilium [GO:0032391]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]


uniprotID: Q96TA0
geneSymbol: PCDHB18P
name: Putative protocadherin beta-18 (PCDH-beta-18) (PCDH-psi2)
length: 734
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y5G4
geneSymbol: PCDHGA9
name: Protocadherin gamma-A9 (PCDH-gamma-A9)
length: 932
snps: rs17097274
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; RNA binding [GO:0003723]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5G4-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G4-2; Sequence=VSP_008675, VSP_008676; 


uniprotID: Q9Y5G0
geneSymbol: PCDHGB5
name: Protocadherin gamma-B5 (PCDH-gamma-B5)
length: 923
go: ENSG00000276547;
snps: rs6867460
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5G0-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G0-2; Sequence=VSP_008692, VSP_008693; 


uniprotID: Q9Y5F9
geneSymbol: PCDHGB6
name: Protocadherin gamma-B6 (PCDH-gamma-B6)
length: 930
go: ENSG00000253305;
snps: rs3749768 rs3749767 rs6891442
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5F9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5F9-2; Sequence=VSP_008694, VSP_008695; 


uniprotID: Q9Y5F7
geneSymbol: PCDHGC4
name: Protocadherin gamma-C4 (PCDH-gamma-C4)
length: 938
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5F7-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5F7-2; Sequence=VSP_008700, VSP_008701; 


uniprotID: O94913
geneSymbol: PCF11
reactome: R-HSA-109688;R-HSA-6807505;R-HSA-72163;R-HSA-72187;R-HSA-77595;
name: Pre-mRNA cleavage complex 2 protein Pcf11 (Pre-mRNA cleavage complex II protein Pcf11)
length: 1555
go: ENSG00000165494;
snps: rs7935175 rs17513642 rs11233510
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; mRNA cleavage factor complex [GO:0005849]; nucleoplasm [GO:0005654]; mRNA binding [GO:0003729]; RNA polymerase II complex binding [GO:0000993]; mRNA 3'-end processing [GO:0031124]; mRNA cleavage [GO:0006379]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: Q4G0U5
geneSymbol: CFAP221
name: Cilia- and flagella-associated protein 221 (Primary ciliary dyskinesia protein 1)
length: 840
go: ENSG00000163075;
snps: rs2272058 rs11686014
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; calmodulin binding [GO:0005516]; cilium assembly [GO:0060271]; cilium movement [GO:0003341]; motile cilium assembly [GO:0044458]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4G0U5-1; Sequence=Displayed; Name=2; IsoId=Q4G0U5-2; Sequence=VSP_039316; Name=3; IsoId=Q4G0U5-3; Sequence=VSP_039317, VSP_039320, VSP_039321; Name=4; IsoId=Q4G0U5-4; Sequence=VSP_039319, VSP_039318; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:18039845}. Cytoplasm {ECO:0000250|UniProtKB:A9Q751}.


uniprotID: Q15645
geneSymbol: TRIP13
pdb: 5VQ9;5VQA;5WC2;6F0X;
length: 432
go: ENSG00000071539;
name:
Pachytene checkpoint protein 2 homolog (Human papillomavirus type 16 E1 protein-binding protein) (16E1-BP) (HPV16 E1 protein-binding protein) (Thyroid hormone receptor interactor 13) (Thyroid receptor-interacting protein 13) (TR-interacting protein 13) (TRIP-13)

sequence:

opentargets:
chromosome [GO:0005694]; male germ cell nucleus [GO:0001673]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; transcription coregulator activity [GO:0003712]; double-strand break repair [GO:0006302]; female meiosis I [GO:0007144]; male meiosis I [GO:0007141]; meiotic recombination checkpoint [GO:0051598]; mitotic spindle assembly checkpoint [GO:0007094]; oocyte maturation [GO:0001556]; oogenesis [GO:0048477]; reciprocal meiotic recombination [GO:0007131]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; synaptonemal complex assembly [GO:0007130]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15645-1; Sequence=Displayed; Name=2; IsoId=Q15645-2; Sequence=VSP_016957; Note=No experimental confirmation available.; 


uniprotID: Q5JVF3
geneSymbol: PCID2
pdb: 3T5X;
name: PCI domain-containing protein 2 (CSN12-like protein)
length: 399
go: ENSG00000126226;
sequence:

opentargets:
transcription export complex 2 [GO:0070390]; double-stranded DNA binding [GO:0003690]; RNA binding [GO:0003723]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity [GO:2000117]; nuclear retention of pre-mRNA at the site of transcription [GO:0071033]; poly(A)+ mRNA export from nucleus [GO:0016973]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090267]; positive regulation of transcription, DNA-templated [GO:0045893]; posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery [GO:0000973]; regulation of mRNA stability [GO:0043488]; spleen development [GO:0048536]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5JVF3-1; Sequence=Displayed; Name=2; IsoId=Q5JVF3-2; Sequence=VSP_016843; Note=No experimental confirmation available.; Name=3; IsoId=Q5JVF3-3; Sequence=VSP_016845; Note=No experimental confirmation available.; Name=4; IsoId=Q5JVF3-4; Sequence=VSP_016844; Note=No experimental confirmation available.; 


uniprotID: Q3KNV8
geneSymbol: PCGF3
name: Polycomb group RING finger protein 3 (RING finger protein 3A)
length: 242
go: ENSG00000185619;
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; X chromosome [GO:0000805]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; histone H2A-K119 monoubiquitination [GO:0036353]; inactivation of X chromosome by genetic imprinting [GO:0060819]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3KNV8-1; Sequence=Displayed; Name=2; IsoId=Q3KNV8-2; Sequence=VSP_023115; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21282530}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q8BTQ0}. Note=Recruited by the non-coding RNA Xist to specific nuclear foci that probably correspond to the inactivated X chromosome. {ECO:0000250|UniProtKB:Q8BTQ0}.


uniprotID: Q9BYE7
geneSymbol: PCGF6
reactome: R-HSA-8953750;
pdb: 2DJB;
name: Polycomb group RING finger protein 6 (Mel18 and Bmi1-like RING finger) (RING finger protein 134)
length: 350
go: ENSG00000156374;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12167161, ECO:0000269|PubMed:21282530}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; histone H2A-K119 monoubiquitination [GO:0036353]; inactivation of X chromosome by genetic imprinting [GO:0060819]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYE7-1; Sequence=Displayed; Name=3; IsoId=Q9BYE7-3; Sequence=VSP_042007, VSP_042008; 


uniprotID: Q9UKZ9
geneSymbol: PCOLCE2
reactome: R-HSA-1650814;
length: 415
go: ENSG00000163710;
snps: rs35692900 rs17554211
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Procollagen C-endopeptidase enhancer 2 (Procollagen COOH-terminal proteinase enhancer 2) (PCPE-2) (Procollagen C-proteinase enhancer 2)

sequence:

opentargets:
extracellular region [GO:0005576]; collagen binding [GO:0005518]; heparin binding [GO:0008201]; peptidase activator activity [GO:0016504]; cellular response to leukemia inhibitory factor [GO:1990830]


uniprotID: Q58A44
geneSymbol: PCOTH
length: 107
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15930275}.
name:
Prostate collagen triple helix protein (C1QTNF9B antisense RNA 1) (C1QTNF9B antisense gene protein 1)

sequence:
MWILSNLMGTSEEGNLLSTVSPTVKALFGKTRVSPIFPFSPRSPFQPLIPRTPGSPWGPVGPASPLGPGFPIGPMGPGKPVGPKGPMLPLGPSGPVGPTSPLFPFCP


uniprotID: P12004
geneSymbol: PCNA
name: Proliferating cell nuclear antigen (PCNA) (Cyclin)
length: 261
go: ENSG00000132646;
snps: rs369958038
reactome:
R-HSA-110312;R-HSA-110314;R-HSA-110320;R-HSA-1362277;R-HSA-174411;R-HSA-174414;R-HSA-174417;R-HSA-174437;R-HSA-4615885;R-HSA-5358565;R-HSA-5358606;R-HSA-539107;R-HSA-5651801;R-HSA-5655862;R-HSA-5656121;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-6804114;R-HSA-69091;R-HSA-69166;R-HSA-69183;R-HSA-8866654;

pdb:
1AXC;1U76;1U7B;1UL1;1VYJ;1VYM;1W60;2ZVK;2ZVL;2ZVM;3JA9;3P87;3TBL;3VKX;3WGW;4D2G;4RJF;4ZTD;5E0T;5E0U;5E0V;5IY4;5MAV;5MLO;5MLW;5MOM;5YCO;5YD8;6CBI;6EHT;6GIS;6GWS;

sequence:

opentargets:
centrosome [GO:0005813]; chromatin [GO:0000785]; DNA replication factor C complex [GO:0005663]; extracellular exosome [GO:0070062]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear replication fork [GO:0043596]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PCNA complex [GO:0043626]; PCNA-p21 complex [GO:0070557]; replication fork [GO:0005657]; replisome [GO:0030894]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; dinucleotide insertion or deletion binding [GO:0032139]; DNA polymerase binding [GO:0070182]; DNA polymerase processivity factor activity [GO:0030337]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; histone acetyltransferase binding [GO:0035035]; identical protein binding [GO:0042802]; MutLalpha complex binding [GO:0032405]; purine-specific mismatch base pair DNA N-glycosylase activity [GO:0000701]; receptor tyrosine kinase binding [GO:0030971]; cell proliferation [GO:0008283]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to UV [GO:0034644]; DNA damage response, detection of DNA damage [GO:0042769]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; epithelial cell differentiation [GO:0030855]; error-free translesion synthesis [GO:0070987]; error-prone translesion synthesis [GO:0042276]; estrous cycle [GO:0044849]; heart development [GO:0007507]; leading strand elongation [GO:0006272]; liver regeneration [GO:0097421]; mismatch repair [GO:0006298]; mitotic telomere maintenance via semi-conservative replication [GO:1902990]; 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]; positive regulation of deoxyribonuclease activity [GO:0032077]; positive regulation of DNA repair [GO:0045739]; positive regulation of DNA replication [GO:0045740]; protein ubiquitination [GO:0016567]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; replication fork processing [GO:0031297]; response to cadmium ion [GO:0046686]; response to dexamethasone [GO:0071548]; response to estradiol [GO:0032355]; response to L-glutamate [GO:1902065]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24115439, ECO:0000269|PubMed:24939902}. Note=Colocalizes with CREBBP, EP300 and POLD1 to sites of DNA damage (PubMed:24939902). Forms nuclear foci representing sites of ongoing DNA replication and vary in morphology and number during S phase. Together with APEX2, is redistributed in discrete nuclear foci in presence of oxidative DNA damaging agents. {ECO:0000269|PubMed:24939902}.


uniprotID: Q92824
geneSymbol: PCSK5
reactome: R-HSA-167060;R-HSA-8963889;
length: 1860
go: ENSG00000099139;
name:
Proprotein convertase subtilisin/kexin type 5 (EC 3.4.21.-) (Proprotein convertase 5) (PC5) (Proprotein convertase 6) (PC6) (hPC6) (Subtilisin/kexin-like protease PC5)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; secretory granule [GO:0030141]; endopeptidase activity [GO:0004175]; peptidase activity [GO:0008233]; peptide binding [GO:0042277]; serine-type endopeptidase activity [GO:0004252]; anterior/posterior pattern specification [GO:0009952]; cardiac septum development [GO:0003279]; cell-cell signaling [GO:0007267]; coronary vasculature development [GO:0060976]; cytokine biosynthetic process [GO:0042089]; determination of left/right symmetry [GO:0007368]; embryo implantation [GO:0007566]; embryonic digestive tract development [GO:0048566]; embryonic skeletal system development [GO:0048706]; heart development [GO:0007507]; kidney development [GO:0001822]; limb morphogenesis [GO:0035108]; peptide biosynthetic process [GO:0043043]; peptide hormone processing [GO:0016486]; protein processing [GO:0016485]; regulation of lipoprotein lipase activity [GO:0051004]; renin secretion into blood stream [GO:0002001]; respiratory tube development [GO:0030323]; signal peptide processing [GO:0006465]; viral life cycle [GO:0019058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=PC6B; Synonyms=Long; IsoId=Q92824-1; Sequence=Displayed; Name=PC6A; Synonyms=Short; IsoId=Q92824-2; Sequence=VSP_042017, VSP_042018; 

location:
SUBCELLULAR LOCATION: Isoform PC6A: Secreted. Note=Secreted through the regulated secretory pathway. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform PC6B: Endomembrane system; Single-pass type I membrane protein. Note=Type I membrane protein localized to a paranuclear post-Golgi network compartment in communication with early endosomes. {ECO:0000250}.


uniprotID: O75832
geneSymbol: PSMD10
pdb: 1QYM;1TR4;1UOH;4NIK;5VHF;5VHH;5VHI;5VHJ;5VHM;5VHN;5VHO;5VHP;5VHQ;5VHR;
length: 226
go: ENSG00000101843;
name:
26S proteasome non-ATPase regulatory subunit 10 (26S proteasome regulatory subunit p28) (Gankyrin) (p28(GANK))

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intermediate filament cytoskeleton [GO:0045111]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome regulatory particle [GO:0005838]; transcription factor binding [GO:0008134]; apoptotic process [GO:0006915]; cytoplasmic sequestering of NF-kappaB [GO:0007253]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell growth [GO:0030307]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; post-translational protein modification [GO:0043687]; proteasome regulatory particle assembly [GO:0070682]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75832-1; Sequence=Displayed; Name=2; IsoId=O75832-2; Sequence=VSP_043043; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18040287}. Nucleus {ECO:0000269|PubMed:18040287}.


uniprotID: O00232
geneSymbol: PSMD12
length: 456
go: ENSG00000197170;
snps: rs2230680
name:
26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nuclear proteasome complex [GO:0031595]; nucleoplasm [GO:0005654]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle [GO:0005838]; proteasome regulatory particle, lid subcomplex [GO:0008541]; secretory granule lumen [GO:0034774]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00232-1; Sequence=Displayed; Name=2; IsoId=O00232-2; Sequence=VSP_042718; Note=No experimental confirmation available.; 


uniprotID: Q9UNM6
geneSymbol: PSMD13
length: 376
go: ENSG00000185627;
snps: rs1045288 rs28927679 rs1794108 rs1794109
pdb:
5GJQ;5GJR;5L4K;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFP;5VFQ;5VFR;5VFS;5VFU;5VGZ;5VHF;5VHH;5VHI;5VHS;

name:
26S proteasome non-ATPase regulatory subunit 13 (26S proteasome regulatory subunit RPN9) (26S proteasome regulatory subunit S11) (26S proteasome regulatory subunit p40.5)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome accessory complex [GO:0022624]; proteasome complex [GO:0000502]; proteasome regulatory particle [GO:0005838]; proteasome regulatory particle, lid subcomplex [GO:0008541]; secretory granule lumen [GO:0034774]; structural molecule activity [GO:0005198]; meiosis I [GO:0007127]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasome assembly [GO:0043248]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNM6-1; Sequence=Displayed; Name=2; IsoId=Q9UNM6-2; Sequence=VSP_041067; 


uniprotID: Q96RV3
geneSymbol: PCNX1
name: Pecanex-like protein 1 (Pecanex homolog protein 1)
length: 2341
go: ENSG00000100731;
opentargets: integral component of membrane [GO:0016021]
snps: rs34222509 rs11625687 rs11625690
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96RV3-1; Sequence=Displayed; Name=2; IsoId=Q96RV3-2; Sequence=VSP_008401, VSP_008402; Note=No experimental confirmation available.; Name=3; IsoId=Q96RV3-3; Sequence=VSP_008403; Note=No experimental confirmation available.; Name=4; IsoId=Q96RV3-4; Sequence=VSP_054500, VSP_054501; Note=No experimental confirmation available.; 


uniprotID: Q92882
geneSymbol: OSTF1
reactome: R-HSA-6798695;
pdb: 1X2K;1ZLM;3EHQ;3EHR;
name: Osteoclast-stimulating factor 1
length: 214
go: ENSG00000134996;
snps: rs2295862 rs17850197
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; intracellular [GO:0005622]; secretory granule lumen [GO:0034774]; SH3 domain binding [GO:0017124]; neutrophil degranulation [GO:0043312]; ossification [GO:0001503]; signal transduction [GO:0007165]


uniprotID: Q86XP0
geneSymbol: PLA2G4D
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;R-HSA-1482922;R-HSA-1482925;R-HSA-1483115;R-HSA-1483166;
pdb: 5IXC;5IZ5;5IZR;
name: Cytosolic phospholipase A2 delta (cPLA2-delta) (EC 3.1.1.4) (Phospholipase A2 group IVD)
length: 818
go: ENSG00000159337;
snps: rs11635685 rs4924618 rs17747505 rs17690899 rs2459692 rs750052 rs750051
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; calcium-dependent phospholipase A2 activity [GO:0047498]; calcium-dependent phospholipid binding [GO:0005544]; lysophospholipase activity [GO:0004622]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; glycerophospholipid catabolic process [GO:0046475]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid metabolic process [GO:0006644]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XP0-1; Sequence=Displayed; Name=2; IsoId=Q86XP0-2; Sequence=VSP_019881, VSP_019882; Note=May be due to an intron retention. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q50L43}. Membrane {ECO:0000250|UniProtKB:Q50L43}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q50L43}; Cytoplasmic side {ECO:0000250|UniProtKB:Q50L43}. Note=Translocates to perinuclear membranes that may correspond to endoplasmic reticulum or Golgi in a calcium-dependent fashion. {ECO:0000250|UniProtKB:Q50L43}.


uniprotID: Q9H361
geneSymbol: PABPC3
pdb: 2D9P;4IVE;
length: 631
go: ENSG00000151846;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Polyadenylate-binding protein 3 (PABP-3) (Poly(A)-binding protein 3) (Testis-specific poly(A)-binding protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; mRNA metabolic process [GO:0016071]


uniprotID: Q5JUK9
geneSymbol: PAGE3
length: 113
snps: rs4826381 rs2296807
name:
P antigen family member 3 (PAGE-3) (G antigen family D member 1) (Prostate-associated gene 3 protein)

sequence:
MSGHQRTRSRSRERRDDQDSNHPVGAVVAQELPSNDQLQQEEPPIESQDYTPGQERDEGALDFQVLGLAAYLWELTRSKTGGERGDGPNVKGEFLPNLEPVKIPEAGEGQPSV


uniprotID: Q96QZ0
geneSymbol: PANX3
name: Pannexin-3
length: 392
go: ENSG00000154143;
snps: rs34498516 rs35569094
sequence:

opentargets:
gap junction [GO:0005921]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; gap junction hemi-channel activity [GO:0055077]; cation transport [GO:0006812]; cell-cell signaling [GO:0007267]; positive regulation of interleukin-1 secretion [GO:0050716]; protein hexamerization [GO:0034214]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00351}. Cell junction, gap junction.


uniprotID: Q9H999
geneSymbol: PANK3
reactome: R-HSA-196783;
pdb: 2I7P;3MK6;3SMS;5KPR;5KPT;5KPZ;5KQ8;5KQD;6B3V;
name: Pantothenate kinase 3 (hPanK3) (EC 2.7.1.33) (Pantothenic acid kinase 3)
length: 370
go: ENSG00000120137;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; acetyl-CoA binding [GO:1905502]; ATP binding [GO:0005524]; pantothenate kinase activity [GO:0004594]; protein homodimerization activity [GO:0042803]; vitamin binding [GO:0019842]; coenzyme A biosynthetic process [GO:0015937]; phosphorylation [GO:0016310]


uniprotID: Q9NVE7
geneSymbol: PANK4
reactome: R-HSA-196783;
name: Pantothenate kinase 4 (hPanK4) (EC 2.7.1.33) (Pantothenic acid kinase 4)
length: 773
snps: rs966358882 rs7535528 rs2494620
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; pantothenate kinase activity [GO:0004594]; coenzyme A biosynthetic process [GO:0015937]


uniprotID: Q96RD7
geneSymbol: PANX1
reactome: R-HSA-112303;R-HSA-844456;
name: Pannexin-1
length: 426
go: ENSG00000110218;
drug: DB01032;
snps: rs1138800 rs12793348
sequence:

opentargets:
bleb [GO:0032059]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; gap junction [GO:0005921]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; actin filament binding [GO:0051015]; calcium channel activity [GO:0005262]; gap junction hemi-channel activity [GO:0055077]; ion channel binding [GO:0044325]; leak channel activity [GO:0022840]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; scaffold protein binding [GO:0097110]; signaling receptor binding [GO:0005102]; calcium ion transport [GO:0006816]; cation transport [GO:0006812]; cell-cell signaling [GO:0007267]; positive regulation of interleukin-1 alpha secretion [GO:0050717]; positive regulation of interleukin-1 beta secretion [GO:0050718]; protein hexamerization [GO:0034214]; response to ATP [GO:0033198]; response to ischemia [GO:0002931]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RD7-1; Sequence=Displayed; Name=2; IsoId=Q96RD7-2; Sequence=VSP_011476; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00351}. Cell junction, gap junction {ECO:0000269|PubMed:16908669, ECO:0000269|PubMed:17715132}. Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00351}.


uniprotID: Q8TEW8
geneSymbol: PARD3B
length: 1205
go: ENSG00000116117;
snps: rs1510765 rs2289025 rs1061522 rs34751010
name:
Partitioning defective 3 homolog B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein) (PAR3-beta) (Partitioning defective 3-like protein) (PAR3-L protein)

sequence:

opentargets:
adherens junction [GO:0005912]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; endomembrane system [GO:0012505]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; phosphatidylinositol binding [GO:0035091]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]; establishment of cell polarity [GO:0030010]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; microtubule cytoskeleton organization [GO:0000226]; protein localization [GO:0008104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Par3La, a; IsoId=Q8TEW8-1; Sequence=Displayed; Name=2; Synonyms=Par3Lb, b; IsoId=Q8TEW8-2; Sequence=VSP_007478; Name=3; Synonyms=Par3Lc, c; IsoId=Q8TEW8-3; Sequence=VSP_007479; Name=4; IsoId=Q8TEW8-4; Sequence=VSP_007476, VSP_007477; Name=5; IsoId=Q8TEW8-5; Sequence=VSP_007543; Name=6; IsoId=Q8TEW8-6; Sequence=VSP_054048; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Endomembrane system. Cell junction. Cell junction, tight junction. Note=Partially localized along the cell-cell contact region. Colocalizes with TJP1 to epithelial tight junctions.


uniprotID: Q6TCH7
geneSymbol: PAQR3
reactome: R-HSA-5675221;
length: 311
go: ENSG00000163291;
name:
Progestin and adipoQ receptor family member 3 (Progestin and adipoQ receptor family member III) (Raf kinase trapping to Golgi) (RKTG)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; signaling receptor activity [GO:0038023]; MAPK cascade [GO:0000165]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of neuron projection development [GO:0010977]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of protein phosphorylation [GO:0001933]; protein localization to Golgi apparatus [GO:0034067]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6TCH7-1; Sequence=Displayed; Name=2; IsoId=Q6TCH7-2; Sequence=VSP_011479; Note=No experimental confirmation available.; Name=3; IsoId=Q6TCH7-3; Sequence=VSP_011480; Note=No experimental confirmation available.; Name=4; IsoId=Q6TCH7-4; Sequence=VSP_011477, VSP_011478; 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: Golgi apparatus membrane {ECO:0000269|PubMed:18547165}; Multi-pass membrane protein {ECO:0000269|PubMed:18547165}.


uniprotID: Q96RI0
geneSymbol: F2RL3
reactome: R-HSA-375276;R-HSA-416476;R-HSA-456926;
pdb: 2ZPK;3QDZ;
length: 385
go: ENSG00000127533;
snps: rs773902 rs2230799 rs2227346 rs2227376
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Proteinase-activated receptor 4 (PAR-4) (Coagulation factor II receptor-like 3) (Thrombin receptor-like 3)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; thrombin-activated receptor activity [GO:0015057]; blood coagulation [GO:0007596]; G protein-coupled receptor signaling pathway [GO:0007186]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; platelet activation [GO:0030168]; platelet dense granule organization [GO:0060155]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of Rho protein signal transduction [GO:0035025]; response to wounding [GO:0009611]; signal transduction [GO:0007165]


uniprotID: Q9NPB6
geneSymbol: PARD6A
reactome: R-HSA-2173791;R-HSA-420029;R-HSA-4608870;
pdb: 1WMH;
length: 346
go: ENSG00000102981;
snps: rs35356834
name:
Partitioning defective 6 homolog alpha (PAR-6) (PAR-6 alpha) (PAR-6A) (PAR6C) (Tax interaction protein 40) (TIP-40)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell cortex [GO:0005938]; centriolar satellite [GO:0034451]; centrosome [GO:0005813]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; GTP-dependent protein binding [GO:0030742]; protein kinase C binding [GO:0005080]; Rho GTPase binding [GO:0017048]; transcription factor binding [GO:0008134]; bicellular tight junction assembly [GO:0070830]; cell division [GO:0051301]; cell-cell junction maintenance [GO:0045217]; centrosome cycle [GO:0007098]; establishment or maintenance of cell polarity [GO:0007163]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of protein localization to centrosome [GO:1904781]; regulation of cellular localization [GO:0060341]; transforming growth factor beta receptor signaling pathway [GO:0007179]; viral process [GO:0016032]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPB6-1; Sequence=Displayed; Name=2; IsoId=Q9NPB6-2; Sequence=VSP_007459; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Cell projection, ruffle. Cell junction, tight junction. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:20719959}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20719959}. Note=Colocalizes with GTP-bound CDC42 or RAC1 at membrane ruffles and with PARD3 and PRKCI at epithelial tight junctions. Recruited to the centrosome by a microtubule and dynein-dynactin-dependent mechanism. {ECO:0000269|PubMed:20719959}.


uniprotID: Q9BYG4
geneSymbol: PARD6G
reactome: R-HSA-420029;
name: Partitioning defective 6 homolog gamma (PAR-6 gamma) (PAR6D)
length: 376
go: ENSG00000178184;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell cortex [GO:0005938]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; protein kinase C binding [GO:0005080]; Rho GTPase binding [GO:0017048]; bicellular tight junction assembly [GO:0070830]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; establishment or maintenance of cell polarity [GO:0007163]; regulation of cellular localization [GO:0060341]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYG4-1; Sequence=Displayed; Name=2; IsoId=Q9BYG4-2; Sequence=VSP_047586, VSP_047587; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane {ECO:0000250}. Cell junction, tight junction {ECO:0000250}.


uniprotID: Q8IY49
geneSymbol: MMD2
length: 270
go: ENSG00000136297;
name:
Monocyte to macrophage differentiation factor 2 (Progestin and adipoQ receptor family member 10) (Progestin and adipoQ receptor family member X)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; protein kinase activity [GO:0004672]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of Ras protein signal transduction [GO:0046579]; regulation of protein localization [GO:0032880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IY49-1; Sequence=Displayed; Name=2; IsoId=Q8IY49-2; Sequence=VSP_011486; Name=3; IsoId=Q8IY49-3; Sequence=VSP_011486, VSP_045589; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:22339580}; Multi-pass membrane protein {ECO:0000269|PubMed:22339580}.


uniprotID: Q9NR21
geneSymbol: PARP11
pdb: 2DK6;
length: 338
go: ENSG00000111224;
name:
Poly [ADP-ribose] polymerase 11 (PARP-11) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 11) (ARTD11)

sequence:

opentargets:
nuclear envelope [GO:0005635]; nuclear pore [GO:0005643]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; cell differentiation [GO:0030154]; mRNA transport [GO:0051028]; nuclear envelope organization [GO:0006998]; protein transport [GO:0015031]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NR21-4; Sequence=Displayed; Name=2; IsoId=Q9NR21-2; Sequence=VSP_059435, VSP_059437; Name=3; IsoId=Q9NR21-1; Sequence=VSP_059436; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q9NR21-5; Sequence=VSP_059438, VSP_059439; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:25673562}. Note=Colocalizes with NUP153 at nuclear pores. {ECO:0000269|PubMed:25673562}.


uniprotID: Q99497
geneSymbol: PARK7
reactome: R-HSA-3899300;
length: 189
go: ENSG00000116288;
pdb:
1J42;1P5F;1PDV;1PDW;1PE0;1Q2U;1SOA;1UCF;2OR3;2R1T;2R1U;2R1V;2RK3;2RK4;2RK6;3B36;3B38;3B3A;3BWE;3CY6;3CYF;3CZ9;3CZA;3EZG;3F71;3SF8;4BTE;4MNT;4MTC;4N0M;4N12;4OGF;4OQ4;4P2G;4P34;4P35;4P36;4RKW;4RKY;4S0Z;4ZGG;5IP5;5SY6;5SY9;5SYA;6AF5;6AF7;6AF9;6AFA;6AFB;6AFC;6AFD;6AFE;6AFF;6AFG;6AFH;6AFI;6AFJ;6AFL;6E5Z;6M8Z;

name:
Protein/nucleic acid deglycase DJ-1 (EC 3.1.2.-) (EC 3.5.1.-) (EC 3.5.1.124) (Maillard deglycase) (Oncogene DJ1) (Parkinson disease protein 7) (Parkinsonism-associated deglycase) (Protein DJ-1) (DJ-1)

sequence:
MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKEGPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIVEALNGKEVAAQVKAPLVLKD

opentargets:
axon [GO:0030424]; cell body [GO:0044297]; cell-cell adherens junction [GO:0005913]; chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; membrane raft [GO:0045121]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; PML body [GO:0016605]; presynapse [GO:0098793]; androgen receptor binding [GO:0050681]; cadherin binding [GO:0045296]; copper ion binding [GO:0005507]; cupric ion binding [GO:1903135]; cuprous ion binding [GO:1903136]; cytokine binding [GO:0019955]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; L-dopa decarboxylase activator activity [GO:0036478]; mercury ion binding [GO:0045340]; mRNA binding [GO:0003729]; oxidoreductase activity, acting on peroxide as acceptor [GO:0016684]; peptidase activity [GO:0008233]; peroxiredoxin activity [GO:0051920]; protein deglycase activity [GO:0036524]; protein homodimerization activity [GO:0042803]; repressing transcription factor binding [GO:0070491]; scaffold protein binding [GO:0097110]; signaling receptor binding [GO:0005102]; small protein activating enzyme binding [GO:0044388]; superoxide dismutase copper chaperone activity [GO:0016532]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; tyrosine 3-monooxygenase activator activity [GO:0036470]; ubiquitin-like protein conjugating enzyme binding [GO:0044390]; ubiquitin-specific protease binding [GO:1990381]; activation of protein kinase B activity [GO:0032148]; adult locomotory behavior [GO:0008344]; autophagy [GO:0006914]; cellular response to glyoxal [GO:0036471]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to oxidative stress [GO:0034599]; detoxification of copper ion [GO:0010273]; detoxification of mercury ion [GO:0050787]; DNA repair [GO:0006281]; dopamine uptake involved in synaptic transmission [GO:0051583]; enzyme active site formation via L-cysteine sulfinic acid [GO:0018323]; glucose homeostasis [GO:0042593]; glutathione deglycation [GO:0036531]; glycolate biosynthetic process [GO:0046295]; glyoxal metabolic process [GO:1903189]; guanine deglycation [GO:0106044]; guanine deglycation, glyoxal removal [GO:0106046]; guanine deglycation, methylglyoxal removal [GO:0106045]; hydrogen peroxide metabolic process [GO:0042743]; inflammatory response [GO:0006954]; insulin secretion [GO:0030073]; lactate biosynthetic process [GO:0019249]; membrane depolarization [GO:0051899]; membrane hyperpolarization [GO:0060081]; methylglyoxal metabolic process [GO:0009438]; mitochondrion organization [GO:0007005]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001268]; negative regulation of death-inducing signaling complex assembly [GO:1903073]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of gene expression [GO:0010629]; negative regulation of hydrogen peroxide-induced cell death [GO:1903206]; negative regulation of hydrogen peroxide-induced neuron death [GO:1903208]; negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway [GO:1903384]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron death [GO:1901215]; negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway [GO:1905259]; negative regulation of oxidative stress-induced cell death [GO:1903202]; negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903377]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein acetylation [GO:1901984]; negative regulation of protein binding [GO:0032091]; negative regulation of protein export from nucleus [GO:0046826]; negative regulation of protein K48-linked deubiquitination [GO:1903094]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; negative regulation of TRAIL-activated apoptotic signaling pathway [GO:1903122]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; negative regulation of ubiquitin-specific protease activity [GO:2000157]; peptidyl-arginine deglycation [GO:0036527]; peptidyl-cysteine deglycation [GO:0036526]; peptidyl-lysine deglycation [GO:0036528]; positive regulation of acute inflammatory response to antigenic stimulus [GO:0002866]; positive regulation of androgen receptor activity [GO:2000825]; positive regulation of autophagy of mitochondrion [GO:1903599]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of dopamine biosynthetic process [GO:1903181]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of L-dopa biosynthetic process [GO:1903197]; positive regulation of L-dopa decarboxylase activity [GO:1903200]; positive regulation of mitochondrial electron transport, NADH to ubiquinone [GO:1902958]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; positive regulation of oxidative phosphorylation uncoupler activity [GO:2000277]; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902177]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein homodimerization activity [GO:0090073]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of pyrroline-5-carboxylate reductase activity [GO:1903168]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of superoxide dismutase activity [GO:1901671]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of tyrosine 3-monooxygenase activity [GO:1903178]; protein deglycation, glyoxal removal [GO:0036529]; protein deglycation, methylglyoxal removal [GO:0036530]; protein deglycosylation [GO:0006517]; protein stabilization [GO:0050821]; Ras protein signal transduction [GO:0007265]; regulation of androgen receptor signaling pathway [GO:0060765]; regulation of inflammatory response [GO:0050727]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of neuron apoptotic process [GO:0043523]; regulation of supramolecular fiber organization [GO:1902903]; single fertilization [GO:0007338]

snps:
rs74315351 rs137853051 rs74315353 rs71653619 rs774005786 rs74315352 rs368420490 rs74315354 rs28938172 rs777026628 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q99LX0}; Lipid-anchor {ECO:0000250|UniProtKB:Q99LX0}. Cytoplasm {ECO:0000269|PubMed:12851414, ECO:0000269|PubMed:14579415, ECO:0000269|PubMed:15976810, ECO:0000269|PubMed:19229105, ECO:0000269|PubMed:28596309}. Nucleus {ECO:0000269|PubMed:12851414, ECO:0000269|PubMed:14579415, ECO:0000269|PubMed:15976810, ECO:0000269|PubMed:16390825, ECO:0000269|PubMed:28596309}. Membrane raft {ECO:0000250|UniProtKB:O88767}. Mitochondrion {ECO:0000269|PubMed:15181200, ECO:0000269|PubMed:18711745, ECO:0000269|PubMed:19229105}. Note=Under normal conditions, located predominantly in the cytoplasm and, to a lesser extent, in the nucleus and mitochondrion. Translocates to the mitochondrion and subsequently to the nucleus in response to oxidative stress and exerts an increased cytoprotective effect against oxidative damage (PubMed:18711745). Detected in tau inclusions in brains from neurodegenerative disease patients (PubMed:14705119). Membrane raft localization in astrocytes and neuronal cells requires palmitoylation. {ECO:0000269|PubMed:14705119, ECO:0000269|PubMed:18711745}.


uniprotID: Q9UKK3
geneSymbol: PARP4
reactome: R-HSA-197264;
length: 1724
go: ENSG00000102699;
name:
Poly [ADP-ribose] polymerase 4 (PARP-4) (EC 2.4.2.30) (193 kDa vault protein) (ADP-ribosyltransferase diphtheria toxin-like 4) (ARTD4) (PARP-related/IalphaI-related H5/proline-rich) (PH5P) (Vault poly(ADP-ribose) polymerase) (VPARP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; spindle microtubule [GO:0005876]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; cell death [GO:0008219]; cellular protein modification process [GO:0006464]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; inflammatory response [GO:0006954]; protein ADP-ribosylation [GO:0006471]; regulation of telomerase activity [GO:0051972]; response to drug [GO:0042493]

snps:
rs35200240 rs9578751 rs9318600 rs4986818 rs7140044 rs2275660 rs34689435 rs9581043 rs4986822 rs1050110 rs13428 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=Also found in the nucleus, associated with mitotic spindles.


uniprotID: Q8N3A8
geneSymbol: PARP8
reactome: R-HSA-197264;
length: 854
go: ENSG00000151883;
name:
Poly [ADP-ribose] polymerase 8 (PARP-8) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 16) (ARTD16)

sequence:

opentargets:
intracellular [GO:0005622]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; protein ADP-ribosylation [GO:0006471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N3A8-1; Sequence=Displayed; Name=2; IsoId=Q8N3A8-2; Sequence=VSP_020970; Note=No experimental confirmation available.; 


uniprotID: Q8IXQ6
geneSymbol: PARP9
reactome: R-HSA-197264;
pdb: 5AIL;
length: 854
go: ENSG00000138496;
snps: rs34006803 rs28365795 rs9851180 rs6780543
name:
Poly [ADP-ribose] polymerase 9 (PARP-9) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 9) (ARTD9) (B aggressive lymphoma protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; site of DNA damage [GO:0090734]; ADP-D-ribose binding [GO:0072570]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; histone binding [GO:0042393]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; STAT family protein binding [GO:0097677]; transcription corepressor activity [GO:0003714]; ubiquitin-like protein ligase binding [GO:0044389]; cell migration [GO:0016477]; defense response to virus [GO:0051607]; double-strand break repair [GO:0006302]; innate immune response [GO:0045087]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; negative regulation of catalytic activity [GO:0043086]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of chromatin binding [GO:0035563]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; positive regulation of interferon-gamma-mediated signaling pathway [GO:0060335]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; posttranscriptional regulation of gene expression [GO:0010608]; protein ADP-ribosylation [GO:0006471]; regulation of response to interferon-gamma [GO:0060330]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long, L; IsoId=Q8IXQ6-1; Sequence=Displayed; Name=2; Synonyms=Short, S; IsoId=Q8IXQ6-2; Sequence=VSP_008505; Name=3; IsoId=Q8IXQ6-3; Sequence=VSP_008505, VSP_046086, VSP_046087; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16809771, ECO:0000269|PubMed:26479788, ECO:0000269|PubMed:27796300}. Nucleus {ECO:0000269|PubMed:11110709, ECO:0000269|PubMed:16809771, ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:26479788, ECO:0000269|PubMed:28525742}. Note=Shuttles between the nucleus and the cytosol (PubMed:16809771). Translocates to the nucleus in response to IFNG or IFNB1 stimulation (PubMed:26479788). Export to the cytosol depends on the interaction with DTX3L (PubMed:16809771). Localizes at sites of DNA damage in a PARP1-dependent manner (PubMed:23230272, PubMed:28525742). {ECO:0000269|PubMed:16809771, ECO:0000269|PubMed:23230272, ECO:0000269|PubMed:26479788, ECO:0000269|PubMed:28525742}.


uniprotID: Q7Z3E1
geneSymbol: TIPARP
length: 657
go: ENSG00000163659;
snps: rs17854621
name:
TCDD-inducible poly [ADP-ribose] polymerase (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 14) (ARTD14) (Poly [ADP-ribose] polymerase 7) (PARP-7)

sequence:

opentargets:
nucleus [GO:0005634]; enhancer binding [GO:0035326]; metal ion binding [GO:0046872]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; androgen metabolic process [GO:0008209]; cellular response to organic cyclic compound [GO:0071407]; estrogen metabolic process [GO:0008210]; face morphogenesis [GO:0060325]; female gonad development [GO:0008585]; hemopoiesis [GO:0030097]; kidney development [GO:0001822]; negative regulation of gene expression [GO:0010629]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of protein catabolic process [GO:0045732]; post-embryonic development [GO:0009791]; protein ADP-ribosylation [GO:0006471]; response to 2,3,7,8-tetrachlorodibenzodioxine [GO:1904612]; roof of mouth development [GO:0060021]; skeletal system morphogenesis [GO:0048705]; smooth muscle tissue development [GO:0048745]; vasculogenesis [GO:0001570]


uniprotID: Q96RG2
geneSymbol: PASK
pdb: 1LL8;3DLS;
name: PAS domain-containing serine/threonine-protein kinase (PAS-kinase) (PASKIN) (hPASK) (EC 2.7.11.1)
length: 1323
go: ENSG00000115687;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; phosphatidylinositol binding [GO:0035091]; protein serine/threonine kinase activity [GO:0004674]; energy homeostasis [GO:0097009]; intracellular signal transduction [GO:0035556]; negative regulation of glycogen biosynthetic process [GO:0045719]; positive regulation of translation [GO:0045727]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of glucagon secretion [GO:0070092]; regulation of respiratory gaseous exchange [GO:0043576]

snps:
rs1470414 rs35187712 rs56033464 rs2240543 rs56372985 rs6727226 rs2005771 rs35129131 rs36082918 rs56139954 rs10167000 rs1131293 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RG2-1; Sequence=Displayed; Name=2; IsoId=Q96RG2-2; Sequence=VSP_009302; Note=No experimental confirmation available.; Name=3; IsoId=Q96RG2-4; Sequence=VSP_045543, VSP_045544; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17595531}. Nucleus {ECO:0000269|PubMed:17595531}. Note=Localizes in the nucleus of testis germ cells and in the midpiece of sperm tails.


uniprotID: P15863
geneSymbol: PAX1
name: Paired box protein Pax-1 (HuP48)
length: 534
go: ENSG00000125813;
snps: rs540296842 rs17861058 rs17861059 rs17861061
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; bone morphogenesis [GO:0060349]; CD4-positive, alpha-beta T cell differentiation [GO:0043367]; CD8-positive, alpha-beta T cell differentiation [GO:0043374]; cell proliferation [GO:0008283]; parathyroid gland development [GO:0060017]; sclerotome development [GO:0061056]; skeletal system development [GO:0001501]; somitogenesis [GO:0001756]; thymus development [GO:0048538]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P15863-1; Sequence=Displayed; Name=2; IsoId=P15863-2; Sequence=VSP_039095, VSP_039096; Name=3; IsoId=P15863-3; Sequence=VSP_039095; Note=No experimental confirmation available.; 


uniprotID: Q9UGN5
geneSymbol: PARP2
reactome: R-HSA-110362;R-HSA-5685939;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;
pdb: 3KCZ;3KJD;4PJV;4TVJ;4ZZX;4ZZY;5D5K;5DSY;
length: 583
go: ENSG00000129484;
drug: DB09074;DB12332;DB07232;
snps: rs3093905 rs3093906 rs3093921 rs3093925 rs3093926 rs2275010
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10364231}.
name:
Poly [ADP-ribose] polymerase 2 (PARP-2) (hPARP-2) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 2) (ARTD2) (NAD(+) ADP-ribosyltransferase 2) (ADPRT-2) (Poly[ADP-ribose] synthase 2) (pADPRT-2)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; protein ADP-ribosylase activity [GO:1990404]; base-excision repair [GO:0006284]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; extrinsic apoptotic signaling pathway [GO:0097191]; negative regulation of neuron death [GO:1901215]; peptidyl-serine ADP-ribosylation [GO:0018312]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; protein ADP-ribosylation [GO:0006471]; protein poly-ADP-ribosylation [GO:0070212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGN5-1; Sequence=Displayed; Name=2; IsoId=Q9UGN5-2; Sequence=VSP_004537; Note=No experimental confirmation available.; 


uniprotID: Q02962
geneSymbol: PAX2
name: Paired box protein Pax-2
length: 417
go: ENSG00000075891;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
centriolar satellite [GO:0034451]; Golgi apparatus [GO:0005794]; lysosome [GO:0005764]; microtubule organizing center [GO:0005815]; nucleolus [GO:0005730]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter sequence-specific DNA binding [GO:0000987]; superoxide-generating NADPH oxidase activity [GO:0016175]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; aging [GO:0007568]; axonogenesis [GO:0007409]; brain morphogenesis [GO:0048854]; branching involved in ureteric bud morphogenesis [GO:0001658]; camera-type eye development [GO:0043010]; cell fate determination [GO:0001709]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to glucose stimulus [GO:0071333]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to retinoic acid [GO:0071300]; cochlea development [GO:0090102]; cochlea morphogenesis [GO:0090103]; glial cell differentiation [GO:0010001]; inner ear morphogenesis [GO:0042472]; mesenchymal to epithelial transition [GO:0060231]; mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003337]; mesodermal cell fate specification [GO:0007501]; mesonephros development [GO:0001823]; metanephric collecting duct development [GO:0072205]; metanephric distal convoluted tubule development [GO:0072221]; metanephric epithelium development [GO:0072207]; metanephric mesenchymal cell differentiation [GO:0072162]; metanephric mesenchyme development [GO:0072075]; metanephric nephron tubule formation [GO:0072289]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic process involved in metanephric collecting duct development [GO:1900215]; negative regulation of apoptotic process involved in metanephric nephron tubule development [GO:1900218]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of cytolysis [GO:0045918]; negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis [GO:0072305]; negative regulation of mesenchymal cell apoptotic process involved in metanephros development [GO:1900212]; negative regulation of programmed cell death [GO:0043069]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of transcription, DNA-templated [GO:0045892]; nephric duct formation [GO:0072179]; neural tube closure [GO:0001843]; optic chiasma development [GO:0061360]; optic cup morphogenesis involved in camera-type eye development [GO:0002072]; optic nerve development [GO:0021554]; optic nerve morphogenesis [GO:0021631]; optic nerve structural organization [GO:0021633]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0072108]; positive regulation of metanephric DCT cell differentiation [GO:2000594]; positive regulation of metanephric glomerulus development [GO:0072300]; positive regulation of optic nerve formation [GO:2000597]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; pronephric field specification [GO:0039003]; pronephros development [GO:0048793]; protein kinase B signaling [GO:0043491]; reactive oxygen species metabolic process [GO:0072593]; regulation of metanephric nephron tubule epithelial cell differentiation [GO:0072307]; regulation of metanephros size [GO:0035566]; response to nutrient levels [GO:0031667]; retinal pigment epithelium development [GO:0003406]; stem cell differentiation [GO:0048863]; transcription by RNA polymerase II [GO:0006366]; transcription, DNA-templated [GO:0006351]; ureter development [GO:0072189]; ureter maturation [GO:0035799]; urogenital system development [GO:0001655]; vestibulocochlear nerve formation [GO:0021650]; visual perception [GO:0007601]

snps:
rs201239919 rs587777708 rs104894170 rs79555199 rs201383632 rs370214925 rs1131692055 rs1403345811 rs893370744 rs78738655 rs138490772 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q02962-1; Sequence=Displayed; Name=2; Synonyms=Fetal kidney; IsoId=Q02962-2; Sequence=VSP_002346; Name=3; IsoId=Q02962-3; Sequence=VSP_002345; Name=4; IsoId=Q02962-4; Sequence=VSP_002345, VSP_002346; 


uniprotID: P23760
geneSymbol: PAX3
reactome: R-HSA-3214847;
pdb: 3CMY;
name: Paired box protein Pax-3 (HuP2)
length: 479
go: ENSG00000135903;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21965087}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; sequence-specific DNA binding [GO:0043565]; animal organ morphogenesis [GO:0009887]; apoptotic process [GO:0006915]; muscle organ development [GO:0007517]; nervous system development [GO:0007399]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; sensory perception of sound [GO:0007605]; transcription by RNA polymerase II [GO:0006366]

snps:
rs104893653 rs104893652 rs104893650 rs267606931 rs387906947 rs587776586 rs104893651 rs104893654 rs1189463428 rs1380858784 rs774528745 rs1020175890 rs2234675 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Pax3; Synonyms=Pax3C; IsoId=P23760-1; Sequence=Displayed; Name=Pax3A; IsoId=P23760-2; Sequence=VSP_002355, VSP_002356; Name=Pax3B; IsoId=P23760-3; Sequence=VSP_002357, VSP_002358; Name=Pax3G; IsoId=P23760-4; Sequence=VSP_042004; Name=Pax3H; IsoId=P23760-5; Sequence=VSP_042005; Name=6; IsoId=P23760-6; Sequence=VSP_043634, VSP_043635; Note=No experimental confirmation available.; Name=7; IsoId=P23760-7; Sequence=VSP_043635; Name=Pax3E; IsoId=P23760-8; Sequence=VSP_044915; 


uniprotID: O43316
geneSymbol: PAX4
reactome: R-HSA-210746;
name: Paired box protein Pax-4
length: 350
go: ENSG00000106331;
snps: rs115887120 rs114202595 rs2233578 rs114315130 rs2233580 rs3824004 rs712701
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; animal organ morphogenesis [GO:0009887]; cell differentiation [GO:0030154]; circadian rhythm [GO:0007623]; endocrine pancreas development [GO:0031018]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell differentiation [GO:0045597]; response to cAMP [GO:0051591]; response to drug [GO:0042493]; retina development in camera-type eye [GO:0060041]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Pax4; IsoId=O43316-1; Sequence=Displayed; Name=2; Synonyms=Pax4V; IsoId=O43316-2; Sequence=VSP_002359, VSP_002360; Name=3; IsoId=O43316-4; Sequence=VSP_036448, VSP_036449; 


uniprotID: Q02548
geneSymbol: PAX5
reactome: R-HSA-8939245;
pdb: 1K78;1MDM;
name: Paired box protein Pax-5 (B-cell-specific transcription factor) (BSAP)
length: 391
go: ENSG00000196092;
snps: rs868494257 rs926053251 rs115889954 rs398123063 rs137870876 rs372989600 rs34810717
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; adult behavior [GO:0030534]; aging [GO:0007568]; animal organ morphogenesis [GO:0009887]; cerebral cortex development [GO:0021987]; embryonic cranial skeleton morphogenesis [GO:0048701]; humoral immune response [GO:0006959]; lateral ventricle development [GO:0021670]; multicellular organism development [GO:0007275]; negative regulation of histone H3-K9 methylation [GO:0051573]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of B cell receptor signaling pathway [GO:0050855]; skeletal muscle cell differentiation [GO:0035914]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=1; IsoId=Q02548-1; Sequence=Displayed; Name=2; Synonyms=delta9; IsoId=Q02548-2; Sequence=VSP_044121; Name=3; Synonyms=delta78; IsoId=Q02548-3; Sequence=VSP_044117, VSP_044118, VSP_044120; Name=4; Synonyms=delta789; IsoId=Q02548-4; Sequence=VSP_044116, VSP_044120; Name=5; Synonyms=delta8; IsoId=Q02548-5; Sequence=VSP_044115; Name=6; Synonyms=delta7; IsoId=Q02548-6; Sequence=VSP_044119; Name=7; IsoId=Q02548-7; Sequence=VSP_047830; Name=8; IsoId=Q02548-8; Sequence=VSP_047828; Name=9; IsoId=Q02548-9; Sequence=VSP_047828, VSP_044121; Name=10; IsoId=Q02548-10; Sequence=VSP_047827, VSP_047831; Name=11; IsoId=Q02548-11; Sequence=VSP_047829, VSP_047832; 


uniprotID: P30039
geneSymbol: PBLD
length: 288
go: ENSG00000108187;
snps: rs12359690 rs756247151 rs4142048
name:
Phenazine biosynthesis-like domain-containing protein (EC 5.1.-.-) (MAWD-binding protein) (MAWDBP) (Unknown protein 32 from 2D-page of liver tissue)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; identical protein binding [GO:0042802]; isomerase activity [GO:0016853]; biosynthetic process [GO:0009058]; maintenance of gastrointestinal epithelium [GO:0030277]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of SMAD protein signal transduction [GO:0060392]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30039-1; Sequence=Displayed; Name=2; IsoId=P30039-2; Sequence=VSP_053822; Note=Gene prediction based on EST data.; 


uniprotID: Q9UN75
geneSymbol: PCDHA12
name: Protocadherin alpha-12 (PCDH-alpha-12)
length: 941
go: ENSG00000251664;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UN75-1; Sequence=Displayed; Name=2; IsoId=Q9UN75-2; Sequence=VSP_000695, VSP_000696; 


uniprotID: Q9Y5E2
geneSymbol: PCDHB7
name: Protocadherin beta-7 (PCDH-beta-7)
length: 793
go: ENSG00000113212;
snps: rs17286891 rs17096946 rs2910313 rs13189280 rs13174866 rs2910314
sequence:


uniprotID: Q8TAB3
geneSymbol: PCDH19
name: Protocadherin-19
length: 1148
go: ENSG00000165194;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; brain development [GO:0007420]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

snps:
rs796052799 rs753757730 rs746274631 rs587784299 rs796052839 rs132630323 rs267606933 rs796052819 rs748581653 rs3764758 rs184545774 rs191333060 rs200021840 rs141816797 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TAB3-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=Q8TAB3-2; Sequence=VSP_015081; Name=3; IsoId=Q8TAB3-3; Sequence=VSP_015081, VSP_054046; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9Y5F1
geneSymbol: PCDHB12
name: Protocadherin beta-12 (PCDH-beta-12)
length: 795
go: ENSG00000120328;
snps: rs2910327 rs2910006
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5F1-1; Sequence=Displayed; Name=2; IsoId=Q9Y5F1-2; Sequence=VSP_053862; Note=No experimental confirmation available.; 


uniprotID: Q9BYU1
geneSymbol: PBX4
name: Pre-B-cell leukemia transcription factor 4 (Homeobox protein PBX4)
length: 374
go: ENSG00000105717;
snps: rs8108180 rs8108981 rs376647012
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; XY body [GO:0001741]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q9BZA7
geneSymbol: PCDH11X
length: 1347
go: ENSG00000102290;
snps: rs4252205
name:
Protocadherin-11 X-linked (Protocadherin-11) (Protocadherin on the X chromosome) (PCDH-X) (Protocadherin-S)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; negative regulation of phosphatase activity [GO:0010923]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9BZA7-1; Sequence=Displayed; Name=2; IsoId=Q9BZA7-2; Sequence=VSP_017980, VSP_017983; Name=3; IsoId=Q9BZA7-3; Sequence=VSP_017984; Name=4; IsoId=Q9BZA7-4; Sequence=VSP_017984, VSP_017987; Name=5; IsoId=Q9BZA7-5; Sequence=VSP_017979; Name=6; IsoId=Q9BZA7-6; Sequence=VSP_017985, VSP_017986; Name=7; Synonyms=Protocadherin-Xa; IsoId=Q9BZA7-7; Sequence=VSP_017981, VSP_017982; Note=No experimental confirmation available.; Name=8; IsoId=Q9BZA7-8; Sequence=VSP_017987; 

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


uniprotID: Q9Y5H8
geneSymbol: PCDHA3
name: Protocadherin alpha-3 (PCDH-alpha-3)
length: 950
go: ENSG00000255408;
snps: rs7731327 rs3733709 rs3733708 rs7701755 rs2240694
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5H8-1; Sequence=Displayed; Name=2; IsoId=Q9Y5H8-2; Sequence=VSP_000675, VSP_000676; 


uniprotID: Q9UN74
geneSymbol: PCDHA4
name: Protocadherin alpha-4 (PCDH-alpha-4)
length: 947
go: ENSG00000204967;
snps: rs11167605 rs3822346
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UN74-1; Sequence=Displayed; Name=2; IsoId=Q9UN74-2; Sequence=VSP_000677, VSP_000678; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O88689}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:O88689}. Note=Detected in dendrites and synapses. {ECO:0000250|UniProtKB:O88689}.


uniprotID: Q9Y5H7
geneSymbol: PCDHA5
name: Protocadherin alpha-5 (PCDH-alpha-5)
length: 936
go: ENSG00000204965;
snps: rs4141841
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y5H7-1; Sequence=Displayed; Name=2; IsoId=Q9Y5H7-2; Sequence=VSP_000679, VSP_000680; Name=3; IsoId=Q9Y5H7-3; Sequence=VSP_008704, VSP_008705; Note=No experimental confirmation available.; 


uniprotID: Q9UN73
geneSymbol: PCDHA6
name: Protocadherin alpha-6 (PCDH-alpha-6)
length: 950
go: ENSG00000081842;
snps: rs60309716
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9UN73-1; Sequence=Displayed; Name=2; IsoId=Q9UN73-2; Sequence=VSP_000681; Name=3; IsoId=Q9UN73-3; Sequence=VSP_000682, VSP_000683; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q9UN72
geneSymbol: PCDHA7
name: Protocadherin alpha-7 (PCDH-alpha-7)
length: 937
go: ENSG00000204963;
snps: rs10067182 rs6880234
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; cell adhesion [GO:0007155]; cell-cell recognition [GO:0009988]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UN72-1; Sequence=Displayed; Name=2; IsoId=Q9UN72-2; Sequence=VSP_000684, VSP_000685; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q91Y13}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q91Y13}.


uniprotID: Q9Y5G8
geneSymbol: PCDHGA5
name: Protocadherin gamma-A5 (PCDH-gamma-A5)
length: 931
go: ENSG00000253485;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5G8-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G8-2; Sequence=VSP_008667, VSP_008668; 


uniprotID: Q9Y5H3
geneSymbol: PCDHGA10
name: Protocadherin gamma-A10 (PCDH-gamma-A10)
length: 936
go: ENSG00000253846;
snps: rs4912751 rs11575963
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5H3-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5H3-2; Sequence=VSP_008677, VSP_008678; 


uniprotID: Q9Y5H2
geneSymbol: PCDHGA11
name: Protocadherin gamma-A11 (PCDH-gamma-A11)
length: 935
go: ENSG00000253873;
snps: rs11167744
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y5H2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5H2-2; Sequence=VSP_008680, VSP_008681; Name=3; IsoId=Q9Y5H2-3; Sequence=VSP_008679; 


uniprotID: A6NGG8
geneSymbol: PCARE
name: Photoreceptor cilium actin regulator
length: 1288
go: ENSG00000179270;
sequence:

opentargets:
cilium [GO:0005929]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; photoreceptor cell outer segment organization [GO:0035845]; protein localization to photoreceptor outer segment [GO:1903546]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

snps:
rs10084168 rs267606690 rs114057537 rs77828062 rs77003681 rs116156338 rs374283240 rs201284350 rs201900716 rs17007544 rs10166913 rs200758183 rs140776870 rs571059484 rs149601594 rs17744093 rs182248363 rs758883789 rs184249075 rs192350796 rs200367963 rs766723736 rs182812191 rs375826049 rs187333111 rs1975713 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:20398886}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q6PAC4}.


uniprotID: Q9Y5G2
geneSymbol: PCDHGB2
name: Protocadherin gamma-B2 (PCDH-gamma-B2)
length: 931
go: ENSG00000253910;
snps: rs17097231 rs13171859 rs57735633
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5G2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G2-2; Sequence=VSP_008686, VSP_008687; 


uniprotID: Q9Y5G1
geneSymbol: PCDHGB3
pdb: 5K8R;
name: Protocadherin gamma-B3 (PCDH-gamma-B3)
length: 929
snps: rs6860590 rs6860609 rs2240697
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5G1-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5G1-2; Sequence=VSP_008688, VSP_008689; 


uniprotID: Q9UN71
geneSymbol: PCDHGB4
name: Protocadherin gamma-B4 (PCDH-gamma-B4) (Cadherin-20) (Fibroblast cadherin-2)
length: 923
go: ENSG00000253953;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UN71-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9UN71-2; Sequence=VSP_008690, VSP_008691; 


uniprotID: Q9Y5F6
geneSymbol: PCDHGC5
name: Protocadherin gamma-C5 (PCDH-gamma-C5)
length: 944
go: ENSG00000240764;
snps: rs2233603 rs2074912
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5F6-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y5F6-2; Sequence=VSP_008702, VSP_008703; 


uniprotID: Q08174
geneSymbol: PCDH1
name: Protocadherin-1 (Cadherin-like protein 1) (Protocadherin-42) (PC42)
length: 1060
go: ENSG00000156453;
snps: rs12517385 rs12515587 rs3822357
sequence:

opentargets:
cell junction [GO:0030054]; cell-cell junction [GO:0005911]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08174-1; Sequence=Displayed; Name=2; Synonyms=PC42-8; IsoId=Q08174-2; Sequence=VSP_000703; 

location:
SUBCELLULAR LOCATION: Cell junction. Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Found at cell-cell boundaries and probably at cell-matrix boundaries.


uniprotID: O60245
geneSymbol: PCDH7
reactome: R-HSA-114608;
pdb: 2YST;
name: Protocadherin-7 (Brain-heart protocadherin) (BH-Pcdh)
length: 1069
go: ENSG00000169851;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=BH-Pcdh-a; IsoId=O60245-1; Sequence=Displayed; Name=B; Synonyms=BH-Pcdh-b; IsoId=O60245-2; Sequence=VSP_000704; 


uniprotID: Q96NT5
geneSymbol: SLC46A1
reactome: R-HSA-196757;R-HSA-917937;
length: 459
go: ENSG00000076351;
drug: DB08878;DB00158;DB00563;DB00795;
name:
Proton-coupled folate transporter (G21) (Heme carrier protein 1) (PCFT/HCP1) (Solute carrier family 46 member 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; folic acid binding [GO:0005542]; folic acid transmembrane transporter activity [GO:0008517]; heme transporter activity [GO:0015232]; methotrexate transmembrane transporter activity [GO:0015350]; proton transmembrane transporter activity [GO:0015078]; cellular iron ion homeostasis [GO:0006879]; folate import across plasma membrane [GO:1904447]; folic acid metabolic process [GO:0046655]; folic acid transport [GO:0015884]; intestinal folate absorption [GO:0098829]; methotrexate transport [GO:0051958]; proton transmembrane transport [GO:1902600]

snps:
rs80338770 rs80338770 rs80338771 rs281875210 rs34552966 rs80338772 rs281875208 rs281875209 rs281875211 rs80338773 rs80338774 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NT5-1; Sequence=Displayed; Name=2; IsoId=Q96NT5-2; Sequence=VSP_016053; Note=Inactive isoform which results in impaired folate absorption, giving rise to hereditary folate malabsorption (HFM).; 

location:
SUBCELLULAR LOCATION: Apical cell membrane; Multi-pass membrane protein. Cytoplasm {ECO:0000250}. Note=Localizes to the apical membrane of intestinal cells in iron-deficient cells, while it resides in the cytoplasm in iron-replete cells. {ECO:0000250}.


uniprotID: Q86SE9
geneSymbol: PCGF5
reactome: R-HSA-8939243;
pdb: 4S3O;
name: Polycomb group RING finger protein 5 (RING finger protein 159)
length: 256
go: ENSG00000180628;
sequence:

opentargets:
centrosome [GO:0005813]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; X chromosome [GO:0000805]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; histone H2A-K119 monoubiquitination [GO:0036353]; inactivation of X chromosome by genetic imprinting [GO:0060819]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SE9-1; Sequence=Displayed; Name=2; IsoId=Q86SE9-2; Sequence=VSP_023118, VSP_023119; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21282530, ECO:0000269|PubMed:25519132}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q3UK78}. Note=Recruited by the non-coding RNA Xist to specific nuclear foci that probably correspond to the inactivated X chromosome. {ECO:0000250|UniProtKB:Q3UK78}.


uniprotID: P35558
geneSymbol: PCK1
reactome: R-HSA-2161541;R-HSA-381340;R-HSA-70263;
pdb: 1KHB;1KHE;1KHF;1KHG;1M51;1NHX;2GMV;
name: Phosphoenolpyruvate carboxykinase, cytosolic [GTP] (PEPCK-C) (EC 4.1.1.32)
length: 622
go: ENSG00000124253;
drug: DB02008;DB03267;DB01819;DB03725;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; carboxylic acid binding [GO:0031406]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; phosphoenolpyruvate carboxykinase (GTP) activity [GO:0004613]; aging [GO:0007568]; cellular response to cAMP [GO:0071320]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to fructose stimulus [GO:0071332]; cellular response to glucagon stimulus [GO:0071377]; cellular response to glucose stimulus [GO:0071333]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to interleukin-1 [GO:0071347]; cellular response to potassium ion starvation [GO:0051365]; cellular response to retinoic acid [GO:0071300]; cellular response to tumor necrosis factor [GO:0071356]; gluconeogenesis [GO:0006094]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; glycerol biosynthetic process from pyruvate [GO:0046327]; hepatocyte differentiation [GO:0070365]; internal protein amino acid acetylation [GO:0006475]; oxaloacetate metabolic process [GO:0006107]; positive regulation of transcription from RNA polymerase II promoter in response to acidic pH [GO:0061402]; propionate catabolic process [GO:0019543]; pyruvate metabolic process [GO:0006090]; response to activity [GO:0014823]; response to insulin [GO:0032868]; response to interleukin-6 [GO:0070741]; response to lipid [GO:0033993]; response to lipopolysaccharide [GO:0032496]; response to methionine [GO:1904640]; response to starvation [GO:0042594]

snps:
rs202197769 rs28383585 rs28383586 rs28359542 rs707555 rs8192708 rs11552145 rs201186470 rs1804160 rs28359550 rs1042529 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35558-1; Sequence=Displayed; Name=2; IsoId=P35558-2; Sequence=VSP_057073, VSP_057074; Note=No experimental confirmation available.; 


uniprotID: Q16822
geneSymbol: PCK2
reactome: R-HSA-70263;
name: Phosphoenolpyruvate carboxykinase [GTP], mitochondrial (PEPCK-M) (EC 4.1.1.32)
length: 640
go: ENSG00000100889;
snps: rs2229660 rs10132601 rs17101262 rs35618680
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; manganese ion binding [GO:0030145]; phosphoenolpyruvate carboxykinase (GTP) activity [GO:0004613]; phosphoenolpyruvate carboxykinase activity [GO:0004611]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucose stimulus [GO:0071333]; cellular response to insulin stimulus [GO:0032869]; gluconeogenesis [GO:0006094]; glycerol biosynthetic process from pyruvate [GO:0046327]; hepatocyte differentiation [GO:0070365]; propionate catabolic process [GO:0019543]; pyruvate metabolic process [GO:0006090]; response to lipid [GO:0033993]; response to starvation [GO:0042594]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16822-1; Sequence=Displayed; Name=2; IsoId=Q16822-2; Sequence=VSP_038783; Name=3; IsoId=Q16822-3; Sequence=VSP_059389; 


uniprotID: P49736
geneSymbol: MCM2
reactome: R-HSA-176187;R-HSA-176974;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69052;
pdb: 4UUZ;5BNV;5BNX;5BO0;5C3I;5JA4;
length: 904
go: ENSG00000073111;
snps: rs375851208 rs3087452 rs2307314 rs1048225 rs3087450 rs13087457 rs2307311 rs2307313
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8175912}.
name:
DNA replication licensing factor MCM2 (EC 3.6.4.12) (Minichromosome maintenance protein 2 homolog) (Nuclear protein BM28)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; MCM complex [GO:0042555]; microtubule cytoskeleton [GO:0015630]; nuclear chromosome, telomeric region [GO:0000784]; nuclear origin of replication recognition complex [GO:0005664]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA replication origin binding [GO:0003688]; enzyme binding [GO:0019899]; helicase activity [GO:0004386]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; apoptotic process [GO:0006915]; cellular response to interleukin-4 [GO:0071353]; cochlea development [GO:0090102]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; DNA unwinding involved in DNA replication [GO:0006268]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of DNA helicase activity [GO:1905775]; nucleosome assembly [GO:0006334]


uniprotID: Q4G0Z9
geneSymbol: MCMDC2
name: Minichromosome maintenance domain-containing protein 2 (MCM domain-containing protein 2)
length: 681
go: ENSG00000178460;
snps: rs16933088 rs17332410 rs11778562
sequence:

opentargets:
ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA replication initiation [GO:0006270]; double-strand break repair involved in meiotic recombination [GO:1990918]; late meiotic recombination nodule assembly [GO:0042140]; oogenesis [GO:0048477]; spermatogenesis [GO:0007283]; synaptonemal complex assembly [GO:0007130]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4G0Z9-1; Sequence=Displayed; Name=2; IsoId=Q4G0Z9-2; Sequence=VSP_039001; Name=3; IsoId=Q4G0Z9-3; Sequence=VSP_038998; Name=4; IsoId=Q4G0Z9-4; Sequence=VSP_038999, VSP_039000; 


uniprotID: P0C7V9
geneSymbol: METTL15P1
length: 234
opentargets: rRNA (cytosine-N4-)-methyltransferase activity [GO:0071424]; rRNA base methylation [GO:0070475]
name:
Putative methyltransferase-like protein 15P1 (EC 2.1.1.-) (Methyltransferase 5 domain-containing protein 2) (Methyltransferase-like protein 15 pseudogene 1)

sequence:


uniprotID: A6NDR6
geneSymbol: MEIS3P1
name: Putative homeobox protein Meis3-like 1
length: 274
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: A8K0S8
geneSymbol: MEIS3P2
name: Putative homeobox protein Meis3-like 2
length: 358
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q16626
geneSymbol: MEA1
name: Male-enhanced antigen 1 (MEA-1)
length: 185
go: ENSG00000124733;
snps: rs11751058
sequence:
MGPERHLSGAPARMATVVLGGDTMGPERIFPNQTEELGHQGPSEGTGDWSSEEPEEEQEETGSGPAGYSYQPLNQDPEQEEVELAPVGDGDVVADIQDRIQALGLHLPDPPLESEDEDEEGATALNNHSSIPMDPEHVELVKRTMAGVSLPAPGVPAWAREISDAQWEDVVQKALQARQASPAWK

opentargets:
cell differentiation [GO:0030154]; male gonad development [GO:0008584]; spermatogenesis [GO:0007283]


uniprotID: Q03112
geneSymbol: MECOM
reactome: R-HSA-3214841;R-HSA-8943724;
pdb: 6BW3;
length: 1230
go: ENSG00000085276;
snps: rs7622799 rs34896995 rs864309724 rs864309723 rs864309722
location: SUBCELLULAR LOCATION: Nucleus. Nucleus speckle.
name:
MDS1 and EVI1 complex locus protein (Ecotropic virus integration site 1 protein homolog) (EVI-1) (Myelodysplasia syndrome 1 protein) (Myelodysplasia syndrome-associated protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; hematopoietic stem cell proliferation [GO:0071425]; negative regulation of JNK cascade [GO:0046329]; negative regulation of programmed cell death [GO:0043069]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=8;  Name=7; IsoId=Q03112-7; Sequence=Displayed; Name=1; Synonyms=Long, Evi-1a; IsoId=Q03112-1; Sequence=VSP_059479, VSP_059484; Name=2; Synonyms=Evi-1c, Mds1/Evi1; IsoId=Q03112-3; Sequence=VSP_059484; Note=Produced by alternative promoter usage. Unable to form homooligomers, to interact with CTBP1 and SMAD3 and to repress TGF-beta signaling. {ECO:0000244|PubMed:28112733, ECO:0000269|PubMed:15897867}; Name=4; IsoId=Q03112-4; Sequence=VSP_059480, VSP_059483, VSP_059484; Name=5; IsoId=Q03112-5; Sequence=VSP_059479; Name=6; IsoId=Q03112-6; Sequence=VSP_059479, VSP_059483; Name=8; IsoId=Q03112-8; Sequence=VSP_059484, VSP_059485, VSP_059486; Name=9; Synonyms=MDS1; IsoId=Q03112-9; Sequence=VSP_059481, VSP_059482; Note=Produced by alternative promoter usage.; 


uniprotID: P51608
geneSymbol: MECP2
pdb: 1QK9;3C2I;5BT2;6C1Y;
name: Methyl-CpG-binding protein 2 (MeCp-2 protein) (MeCp2)
length: 486
go: ENSG00000169057;
sequence:

opentargets:
centrosome [GO:0005813]; chromatin [GO:0000785]; cytosol [GO:0005829]; extracellular space [GO:0005615]; heterochromatin [GO:0000792]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; postsynapse [GO:0098794]; DNA binding [GO:0003677]; double-stranded methylated DNA binding [GO:0010385]; methyl-CpG binding [GO:0008327]; mRNA binding [GO:0003729]; protein domain specific binding [GO:0019904]; protein N-terminus binding [GO:0047485]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA binding [GO:0003723]; siRNA binding [GO:0035197]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; adult locomotory behavior [GO:0008344]; behavioral fear response [GO:0001662]; cardiolipin metabolic process [GO:0032048]; catecholamine secretion [GO:0050432]; cellular biogenic amine metabolic process [GO:0006576]; cerebellum development [GO:0021549]; chromatin silencing [GO:0006342]; dendrite development [GO:0016358]; excitatory postsynaptic potential [GO:0060079]; glucocorticoid metabolic process [GO:0008211]; glutamine metabolic process [GO:0006541]; histone acetylation [GO:0016573]; histone methylation [GO:0016571]; inositol metabolic process [GO:0006020]; long-term memory [GO:0007616]; long-term synaptic potentiation [GO:0060291]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; mitotic spindle organization [GO:0007052]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of gene expression [GO:0010629]; negative regulation of histone acetylation [GO:0035067]; negative regulation of histone methylation [GO:0031061]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of smooth muscle cell differentiation [GO:0051151]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation [GO:2000820]; negative regulation of transcription, DNA-templated [GO:0045892]; neurological system process involved in regulation of systemic arterial blood pressure [GO:0001976]; neuron maturation [GO:0042551]; pathogenesis [GO:0009405]; phosphatidylcholine metabolic process [GO:0046470]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA methylation [GO:1905643]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of histone H3-K9 trimethylation [GO:1900114]; positive regulation of microtubule nucleation [GO:0090063]; positive regulation of synapse assembly [GO:0051965]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; proprioception [GO:0019230]; protein localization [GO:0008104]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; respiratory gaseous exchange [GO:0007585]; response to hypoxia [GO:0001666]; response to radiation [GO:0009314]; sensory perception of pain [GO:0019233]; social behavior [GO:0035176]; startle response [GO:0001964]; synapse assembly [GO:0007416]; ventricular system development [GO:0021591]; visual learning [GO:0008542]

snps:
rs61754421 rs61754445 rs61754449 rs61754448 rs61754451 rs28935168 rs61754453 rs61754453 rs61754453 rs61754452 rs61754457 rs28934907 rs61754459 rs267608454 rs61755763 rs61748383 rs28934904 rs61748389 rs61748390 rs61748391 rs61748392 rs28934908 rs61748404 rs61748406 rs28934905 rs61748407 rs61748411 rs28934906 rs61748417 rs61748420 rs61749705 rs61749713 rs61749714 rs61748381 rs61749720 rs61749730 rs61749715 rs61749715 rs61749738 rs61749739 rs61748422 rs61750229 rs61750255 rs61750257 rs61751360 rs61751373 rs61749723 rs61749723 rs61749723 rs1057519543 rs61751441 rs28935468 rs61751443 rs61751449 rs61751450 rs61751449 rs61752361 rs61752371 rs61752387 rs61753006 rs61753000 rs63094662 rs56268439 rs62915962 rs61753014 rs61753966 rs61753971 rs61753973 rs61753975 rs61753980 rs267608636 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=Beta; IsoId=P51608-1; Sequence=Displayed; Name=B; Synonyms=Alpha; IsoId=P51608-2; Sequence=VSP_022948; Note=Ten times higher expression levels than isoform A in brain.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9Z2D6}. Note=Colocalized with methyl-CpG in the genome. Colocalized with TBL1X to the heterochromatin foci. {ECO:0000269|PubMed:28348241}.


uniprotID: O15146
geneSymbol: MUSK
reactome: R-HSA-3000178;
length: 869
go: ENSG00000030304;
name:
Muscle, skeletal receptor tyrosine-protein kinase (EC 2.7.10.1) (Muscle-specific tyrosine-protein kinase receptor) (MuSK) (Muscle-specific kinase receptor)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; neuromuscular junction [GO:0031594]; postsynaptic membrane [GO:0045211]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; Wnt-protein binding [GO:0017147]; cell differentiation [GO:0030154]; memory [GO:0007613]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; neuromuscular junction development [GO:0007528]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of protein geranylgeranylation [GO:2000541]; positive regulation of protein phosphorylation [GO:0001934]; protein autophosphorylation [GO:0046777]; regulation of synaptic growth at neuromuscular junction [GO:0008582]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

snps:
rs56054734 rs775587809 rs35142681 rs55786136 rs35176182 rs55826142 rs387906803 rs2274419 rs751889864 rs766640370 rs34267283 rs41279055 rs55963442 rs56126328 rs397515450 rs34614566 rs199476083 rs757577755 rs578430 rs34115159 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15146-1; Sequence=Displayed; Name=2; IsoId=O15146-2; Sequence=VSP_035958, VSP_035959, VSP_035960; Name=3; IsoId=O15146-3; Sequence=VSP_035959, VSP_035960; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:23326516}; Single-pass type I membrane protein {ECO:0000305}. Note=Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction. {ECO:0000269|PubMed:23326516}.


uniprotID: P22033
geneSymbol: MUT
reactome: R-HSA-196741;R-HSA-3359475;R-HSA-3359478;R-HSA-71032;
pdb: 2XIJ;2XIQ;3BIC;
name: Methylmalonyl-CoA mutase, mitochondrial (MCM) (EC 5.4.99.2) (Methylmalonyl-CoA isomerase)
length: 750
go: ENSG00000146085;
drug: DB00115;DB00200;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; cobalamin binding [GO:0031419]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; methylmalonyl-CoA mutase activity [GO:0004494]; modified amino acid binding [GO:0072341]; protein homodimerization activity [GO:0042803]; cobalamin metabolic process [GO:0009235]; homocysteine metabolic process [GO:0050667]; positive regulation of GTPase activity [GO:0043547]; post-embryonic development [GO:0009791]

snps:
rs115923556 rs769348060 rs121918251 rs727504022 rs535411418 rs190834116 rs864309735 rs121918249 rs121918257 rs483352778 rs1461110052 rs796052005 rs879253827 rs879253828 rs941483851 rs879253829 rs757000253 rs864309733 rs148331800 rs879253830 rs200908035 rs760782399 rs778702777 rs121918258 rs121918256 rs770810987 rs879253833 rs864309736 rs12175488 rs796052007 rs879253835 rs761477436 rs864309734 rs781474200 rs879253837 rs758577372 rs796052002 rs965316043 rs1407914109 rs563776413 rs864309737 rs772552898 rs564069299 rs368790885 rs121918250 rs866933356 rs879253840 rs879253842 rs533755473 rs769922244 rs753288303 rs2229385 rs864309738 rs1141321 rs760183775 rs879253845 rs775593146 rs9473556 rs765284825 rs879253846 rs121918254 rs768521956 rs879253847 rs982110849 rs372486357 rs143023066 rs200055428 rs781501004 rs865815395 rs747897332 rs766721811 rs8589 rs1164271240 rs147094927 rs864309739 rs777758903 rs140600746 rs121918255 rs121918252 rs755077681 rs753461919 


uniprotID: Q9BTT4
geneSymbol: MED10
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 135
go: ENSG00000133398;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 10 (Mediator complex subunit 10) (Transformation-related gene 17 protein) (TRG-17) (Transformation-related gene 20 protein) (TRG-20)

sequence:
MAEKFDHLEEHLEKFVENIRQLGIIVSDFQPSSQAGLNQKLNFIVTGLQDIDKCRQQLHDITVPLEVFEYIDQGRNPQLYTKECLERALAKNEQVKGKIDTMKKFKSLLIQELSKVFPEDMAKYRSIRGEDHPPS

opentargets:
mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; transcription coregulator activity [GO:0003712]; ubiquitin protein ligase activity [GO:0061630]; positive regulation of transcription by RNA polymerase II [GO:0045944]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q96RN5
geneSymbol: MED15
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
pdb: 2GUT;
length: 788
go: ENSG00000099917;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Mediator of RNA polymerase II transcription subunit 15 (Activator-recruited cofactor 105 kDa component) (ARC105) (CTG repeat protein 7a) (Mediator complex subunit 15) (Positive cofactor 2 glutamine/Q-rich-associated protein) (PC2 glutamine/Q-rich-associated protein) (TPA-inducible gene 1 protein) (TIG-1) (Trinucleotide repeat-containing gene 7 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription coregulator activity [GO:0003712]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RN5-1; Sequence=Displayed; Name=2; IsoId=Q96RN5-2; Sequence=VSP_003922; Name=3; IsoId=Q96RN5-3; Sequence=VSP_013024, VSP_003922; Note=No experimental confirmation available.; 


uniprotID: Q9Y2X0
geneSymbol: MED16
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 877
go: ENSG00000175221;
snps: rs34859566 rs13090
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 16 (Mediator complex subunit 16) (Thyroid hormone receptor-associated protein 5) (Thyroid hormone receptor-associated protein complex 95 kDa component) (Trap95) (Vitamin D3 receptor-interacting protein complex 92 kDa component) (DRIP92)

sequence:

opentargets:
mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; catalytic activity [GO:0003824]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; thyroid hormone receptor coactivator activity [GO:0030375]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:10198638}; IsoId=Q9Y2X0-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9Y2X0-2; Sequence=VSP_051724; Name=3 {ECO:0000305}; IsoId=Q9Y2X0-3; Sequence=VSP_051722, VSP_051724; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000305}; IsoId=Q9Y2X0-4; Sequence=VSP_051721, VSP_051723; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q9Y2X0-5; Sequence=VSP_028749, VSP_028750; Note=No experimental confirmation available.; 


uniprotID: A0JLT2
geneSymbol: MED19
reactome: R-HSA-1989781;R-HSA-381340;
length: 244
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 19 (Lung cancer metastasis-related protein 1) (Mediator complex subunit 19)

sequence:

opentargets:
mediator complex [GO:0016592]; nuclear body [GO:0016604]; nucleus [GO:0005634]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0JLT2-1; Sequence=Displayed; Name=2; IsoId=A0JLT2-2; Sequence=VSP_028121, VSP_028122; Note=No experimental confirmation available.; 


uniprotID: Q6P2C8
geneSymbol: MED27
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 311
go: ENSG00000160563;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10882111, ECO:0000269|PubMed:9989412}.
name:
Mediator of RNA polymerase II transcription subunit 27 (Cofactor required for Sp1 transcriptional activation subunit 8) (CRSP complex subunit 8) (Mediator complex subunit 27) (P37 TRAP/SMCC/PC2 subunit) (Transcriptional coactivator CRSP34)

sequence:

opentargets:
cytosol [GO:0005829]; mediator complex [GO:0016592]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; ubiquitin ligase complex [GO:0000151]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase activity [GO:0061630]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:10882111, ECO:0000269|PubMed:9989412, ECO:0000303|PubMed:15164053, ECO:0000305}; IsoId=Q6P2C8-1; Sequence=Displayed; Name=2 {ECO:0000303|PubMed:15164053}; IsoId=Q6P2C8-2; Sequence=VSP_051869; Name=3; IsoId=Q6P2C8-4; Sequence=VSP_055411, VSP_055412; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9H204
geneSymbol: MED28
reactome: R-HSA-1989781;R-HSA-381340;
length: 178
go: ENSG00000118579;
name:
Mediator of RNA polymerase II transcription subunit 28 (Endothelial-derived protein 1) (Mediator complex subunit 28) (Merlin and Grb2-interacting cytoskeletal protein) (Magicin) (Tumor angiogenesis marker EG-1)

sequence:
MAAPLGGMFSGQPPGPPQAPPGLPGQASLLQAAPGAPRPSSSTLVDELESSFEACFASLVSQDYVNGTDQEEIRTGVDQCIQKFLDIARQTECFFLQKRLQLSVQKPEQVIKEDVSELRNELQRKDALVQKHLTKLRHWQQVLEDINVQHKKPADIPQGSLAYLEQASANIPAPLKPT

opentargets:
cortical actin cytoskeleton [GO:0030864]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; actin binding [GO:0003779]; negative regulation of smooth muscle cell differentiation [GO:0051151]; stem cell population maintenance [GO:0019827]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15467741}. Cytoplasm {ECO:0000269|PubMed:15467741}. Membrane {ECO:0000269|PubMed:15467741}; Peripheral membrane protein {ECO:0000269|PubMed:15467741}. Note=According to PubMed:15467741, it is cytoplasmic and mainly membrane-associated.


uniprotID: Q9Y3C7
geneSymbol: MED31
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 131
go: ENSG00000108590;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 31 (Mediator complex subunit 31) (Mediator complex subunit SOH1) (hSOH1)

sequence:
MAAAVAMETDDAGNRLRFQLELEFVQCLANPNYLNFLAQRGYFKDKAFVNYLKYLLYWKDPEYAKYLKYPQCLHMLELLQYEHFRKELVNAQCAKFIDEQQILHWQHYSRKRMRLQQALAEQQQQNNTSGK

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; ubiquitin ligase complex [GO:0000151]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase activity [GO:0061630]; limb development [GO:0060173]; negative regulation of fibroblast proliferation [GO:0048147]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: O75586
geneSymbol: MED6
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 246
go: ENSG00000133997;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Mediator of RNA polymerase II transcription subunit 6 (Activator-recruited cofactor 33 kDa component) (ARC33) (Mediator complex subunit 6) (hMed6) (Renal carcinoma antigen NY-REN-28)

sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription coactivator activity involved in preinitiation complex assembly [GO:0001128]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; RNA polymerase II preinitiation complex assembly [GO:0051123]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75586-1; Sequence=Displayed; Name=2; IsoId=O75586-2; Sequence=VSP_054589; Note=No experimental confirmation available.; Name=3; IsoId=O75586-3; Sequence=VSP_054590; Note=No experimental confirmation available.; 


uniprotID: Q96G25
geneSymbol: MED8
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 268
go: ENSG00000159479;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 8 (Activator-recruited cofactor 32 kDa component) (ARC32) (Mediator complex subunit 8)

sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coregulator activity [GO:0003712]; protein ubiquitination [GO:0016567]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96G25-1; Sequence=Displayed; Name=2; IsoId=Q96G25-2; Sequence=VSP_007524; Name=3; IsoId=Q96G25-3; Sequence=VSP_035507; Note=No experimental confirmation available.; 


uniprotID: P20591
geneSymbol: MX1
reactome: R-HSA-1169408;R-HSA-909733;
pdb: 3LJB;3SZR;3ZYS;4P4S;4P4T;4P4U;5GTM;
length: 662
go: ENSG00000157601;
snps: rs469390 rs34717738 rs2230454
name:
Interferon-induced GTP-binding protein Mx1 (Interferon-induced protein p78) (IFI-78K) (Interferon-regulated resistance GTP-binding protein MxA) (Myxoma resistance protein 1) (Myxovirus resistance protein 1) [Cleaved into: Interferon-induced GTP-binding protein Mx1, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; apoptotic process [GO:0006915]; defense response [GO:0006952]; defense response to virus [GO:0051607]; dynamin family protein polymerization involved in mitochondrial fission [GO:0003374]; innate immune response [GO:0045087]; membrane fusion [GO:0061025]; mitochondrial fission [GO:0000266]; negative regulation of viral genome replication [GO:0045071]; response to type I interferon [GO:0034340]; response to virus [GO:0009615]; signal transduction [GO:0007165]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20591-1; Sequence=Displayed; Name=2; Synonyms=56-kda, varMxA; IsoId=P20591-2; Sequence=VSP_042904; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11880649, ECO:0000269|PubMed:21859714, ECO:0000269|PubMed:21992152, ECO:0000269|PubMed:9060610}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15355513, ECO:0000269|PubMed:16413306, ECO:0000269|PubMed:21992152}; Peripheral membrane protein {ECO:0000269|PubMed:16413306}; Cytoplasmic side. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15047845}. Note=Binds preferentially to negatively charged phospholipids (PubMed:21900240). Colocalizes with CCHFV protein N in the perinuclear region (PubMed:15047845). {ECO:0000269|PubMed:15047845, ECO:0000269|PubMed:21900240}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:20603636}. Nucleus {ECO:0000269|PubMed:20603636}. Note=Translocates into the nuclei of HSV-1 infected cells (PubMed:20603636). {ECO:0000269|PubMed:20603636}.


uniprotID: Q9BRK3
geneSymbol: MXRA8
reactome: R-HSA-381426;R-HSA-8957275;
name: Matrix remodeling-associated protein 8 (Limitrin)
length: 442
go: ENSG00000162576;
snps: rs150058708
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; cellular protein metabolic process [GO:0044267]; establishment of glial blood-brain barrier [GO:0060857]; post-translational protein modification [GO:0043687]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BRK3-1; Sequence=Displayed; Name=2; IsoId=Q9BRK3-2; Sequence=VSP_027448, VSP_027449; Name=3; IsoId=Q9BRK3-3; Sequence=VSP_054528; Note=No experimental confirmation available.; Name=4; IsoId=Q9BRK3-4; Sequence=VSP_054529; Note=No experimental confirmation available.; 


uniprotID: Q92614
geneSymbol: MYO18A
reactome: R-HSA-1839117;R-HSA-5655302;
length: 2054
go: ENSG00000196535;
snps: rs8076604
name:
Unconventional myosin-XVIIIa (Molecule associated with JAK3 N-terminus) (MAJN) (Myosin containing a PDZ domain) (Surfactant protein receptor SP-R210) (SP-R210)

sequence:

opentargets:
actomyosin [GO:0042641]; cell surface [GO:0009986]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; myosin complex [GO:0016459]; trans-Golgi network [GO:0005802]; actin filament binding [GO:0051015]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; actomyosin structure organization [GO:0031032]; asymmetric Golgi ribbon formation [GO:0090164]; cell migration [GO:0016477]; DNA metabolic process [GO:0006259]; Golgi organization [GO:0007030]; Golgi ribbon formation [GO:0090161]; Golgi vesicle budding [GO:0048194]; negative regulation of apoptotic process [GO:0043066]; positive regulation of opsonization [GO:1903028]; positive regulation of protein secretion [GO:0050714]; regulation of macrophage activation [GO:0043030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Alpha, SP-R210L {ECO:0000303|PubMed:16087679}; IsoId=Q92614-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q92614-2; Sequence=VSP_007869, VSP_007870; Name=3; IsoId=Q92614-3; Sequence=VSP_007871, VSP_007872; Note=No experimental confirmation available. {ECO:0000244|PubMed:24275569}; Name=4; IsoId=Q92614-4; Sequence=VSP_007872; Note=No experimental confirmation available. {ECO:0000244|PubMed:24275569}; Name=5; Synonyms=SP-R210S {ECO:0000303|PubMed:16087679}; IsoId=Q92614-5; Sequence=VSP_023058, VSP_007872; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250}. Cytoplasm, cytoskeleton. Note=Colocalizes with actin.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Lacks the PDZ domain. Diffusely localized in the cytoplasm.; SUBCELLULAR LOCATION: Golgi apparatus. Golgi apparatus, trans-Golgi network. Note=Recruited to the Golgi apparatus by GOLPH3.; SUBCELLULAR LOCATION: Isoform 5: Cell surface {ECO:0000269|PubMed:16087679}.


uniprotID: Q99707
geneSymbol: MTR
reactome: R-HSA-156581;R-HSA-1614635;R-HSA-196741;R-HSA-3359467;R-HSA-3359469;
pdb: 2O2K;4CCZ;
length: 1265
go: ENSG00000116984;
drug: DB00115;DB00200;DB00134;DB00116;
snps: rs12749581 rs1140598 rs2229274 rs1805087 rs121913579 rs121913578
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Methionine synthase (EC 2.1.1.13) (5-methyltetrahydrofolate--homocysteine methyltransferase) (Vitamin-B12 dependent methionine synthase) (MS)

sequence:

opentargets:
cytosol [GO:0005829]; cobalamin binding [GO:0031419]; methionine synthase activity [GO:0008705]; zinc ion binding [GO:0008270]; axon regeneration [GO:0031103]; cellular response to nitric oxide [GO:0071732]; cobalamin metabolic process [GO:0009235]; methionine biosynthetic process [GO:0009086]; nervous system development [GO:0007399]; pteridine-containing compound metabolic process [GO:0042558]; response to axon injury [GO:0048678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99707-1; Sequence=Displayed; Name=2; IsoId=Q99707-2; Sequence=VSP_057283; Note=No experimental confirmation available.; 


uniprotID: P31153
geneSymbol: MAT2A
reactome: R-HSA-156581;
pdb: 2P02;4KTT;4KTV;4NDN;5A19;5A1G;5A1I;5UGH;
length: 395
go: ENSG00000168906;
drug: DB00134;DB00118;
name:
S-adenosylmethionine synthase isoform type-2 (AdoMet synthase 2) (EC 2.5.1.6) (Methionine adenosyltransferase 2) (MAT 2) (Methionine adenosyltransferase II) (MAT-II)

sequence:

opentargets:
cytosol [GO:0005829]; methionine adenosyltransferase complex [GO:0048269]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; methionine adenosyltransferase activity [GO:0004478]; cellular response to leukemia inhibitory factor [GO:1990830]; one-carbon metabolic process [GO:0006730]; protein heterooligomerization [GO:0051291]; protein hexamerization [GO:0034214]; S-adenosylmethionine biosynthetic process [GO:0006556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31153-1; Sequence=Displayed; Name=2; IsoId=P31153-2; Sequence=VSP_056186, VSP_056187; Note=No experimental confirmation available.; 


uniprotID: P10242
geneSymbol: MYB
reactome: R-HSA-8939236;R-HSA-9018519;R-HSA-983231;
name: Transcriptional activator Myb (Proto-oncogene c-Myb)
length: 640
go: ENSG00000118513;
snps: rs2229999 rs2230000
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00625, ECO:0000269|PubMed:19646965}.
sequence:

opentargets:
nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to retinoic acid [GO:0071300]; chromatin remodeling [GO:0006338]; mitotic cell cycle [GO:0000278]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of hepatic stellate cell activation [GO:2000491]; positive regulation of hepatic stellate cell proliferation [GO:1904899]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of histone H3-K9 methylation [GO:0051574]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T-helper cell differentiation [GO:0045624]; positive regulation of testosterone secretion [GO:2000845]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta production [GO:0071636]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of transcription, DNA-templated [GO:0006355]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=1; IsoId=P10242-1; Sequence=Displayed; Name=2; IsoId=P10242-2; Sequence=VSP_003293; Name=3; IsoId=P10242-3; Sequence=VSP_003294, VSP_003295; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=P10242-4; Sequence=VSP_003296; Name=5; IsoId=P10242-5; Sequence=VSP_003297, VSP_003298; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=P10242-6; Sequence=VSP_003299; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=7; IsoId=P10242-7; Sequence=VSP_003293, VSP_003296; Name=8; IsoId=P10242-8; Sequence=VSP_046660; Name=9; IsoId=P10242-9; Sequence=VSP_046658; Name=10; IsoId=P10242-10; Sequence=VSP_046661; Name=11; IsoId=P10242-11; Sequence=VSP_046659; Name=12; IsoId=P10242-12; Sequence=VSP_053389; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GUC4
geneSymbol: MYOCOS
name: Myocilin opposite strand protein
length: 108
sequence:
MAQKSLANNSINLPYKDLTSEVTRRRVTMITRKEIITQKSDEAKEMLSHLDLEQAPPPHRTYLTVPPAPPPSPAEDPTPDGLSFKIREAGTSVSSDFSSWKAKVSKFH


uniprotID: Q7Z401
geneSymbol: DENND4A
reactome: R-HSA-8876198;
name: C-myc promoter-binding protein (DENN domain-containing protein 4A)
length: 1863
go: ENSG00000174485;
snps: rs17854146
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; DNA binding [GO:0003677]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z401-1; Sequence=Displayed; Name=2; IsoId=Q7Z401-2; Sequence=VSP_044630; Note=No experimental confirmation available.; 


uniprotID: Q9P2K5
geneSymbol: MYEF2
name: Myelin expression factor 2 (MEF-2) (MyEF-2) (MST156)
length: 600
go: ENSG00000104177;
snps: rs8023906 rs2470103 rs36075490
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; post-mRNA release spliceosomal complex [GO:0071014]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; single-stranded DNA binding [GO:0003697]; myotube differentiation [GO:0014902]; neuron differentiation [GO:0030182]; regulation of mRNA stability involved in response to oxidative stress [GO:2000815]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P2K5-1; Sequence=Displayed; Name=2; IsoId=Q9P2K5-2; Sequence=VSP_013454; Name=3; IsoId=Q9P2K5-3; Sequence=VSP_013451, VSP_013454; Name=4; IsoId=Q9P2K5-4; Sequence=VSP_013452, VSP_013453; 


uniprotID: P13349
geneSymbol: MYF5
reactome: R-HSA-375170;
name: Myogenic factor 5 (Myf-5) (Class C basic helix-loop-helix protein 2) (bHLHc2)
length: 255
go: ENSG00000111049;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; camera-type eye development [GO:0043010]; cartilage condensation [GO:0001502]; embryonic skeletal system morphogenesis [GO:0048704]; extracellular matrix organization [GO:0030198]; muscle cell fate commitment [GO:0042693]; muscle organ development [GO:0007517]; muscle tissue morphogenesis [GO:0060415]; ossification [GO:0001503]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell-matrix adhesion [GO:0001952]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle tissue development [GO:0007519]; somitogenesis [GO:0001756]


uniprotID: Q8N3J2
geneSymbol: METTL4
name: Methyltransferase-like protein 4 (EC 2.1.1.-)
length: 472
go: ENSG00000101574;
snps: rs12606220 rs34143130 rs2677879 rs8084295
sequence:

opentargets:
nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; site-specific DNA-methyltransferase (adenine-specific) activity [GO:0009007]


uniprotID: Q641Q3
geneSymbol: METRNL
name: Meteorin-like protein (Subfatin)
length: 311
go: ENSG00000176845;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; brown fat cell differentiation [GO:0050873]; energy homeostasis [GO:0097009]; fat cell differentiation [GO:0045444]; negative regulation of inflammatory response [GO:0050728]; positive regulation of brown fat cell differentiation [GO:0090336]; response to cold [GO:0009409]; response to muscle activity [GO:0014850]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q641Q3-1; Sequence=Displayed; Name=2; IsoId=Q641Q3-2; Sequence=VSP_056101; Note=No experimental confirmation available.; 


uniprotID: Q9Y2K3
geneSymbol: MYH15
name: Myosin-15 (Myosin heavy chain 15)
length: 1946
go: ENSG00000144821;
snps: rs4299484 rs9868484 rs12638212 rs3900940 rs1078456
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
sequence:

opentargets:
myofibril [GO:0030016]; myosin filament [GO:0032982]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; extraocular skeletal muscle development [GO:0002074]


uniprotID: Q9H6N6
geneSymbol: MYH16
length: 1097
opentargets: myosin complex [GO:0016459]; motor activity [GO:0003774]
name:
Putative uncharacterized protein MYH16 (Myosin heavy chain 16 pseudogene) (myosin heavy polypeptide 5)

sequence:


uniprotID: P13533
geneSymbol: MYH6
reactome: R-HSA-390522;
name: Myosin-6 (Myosin heavy chain 6) (Myosin heavy chain, cardiac muscle alpha isoform) (MyHC-alpha)
length: 1939
go: ENSG00000197616;
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
sequence:

opentargets:
cytosol [GO:0005829]; muscle myosin complex [GO:0005859]; myofibril [GO:0030016]; myosin complex [GO:0016459]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; myosin phosphatase activity [GO:0017018]; protein kinase binding [GO:0019901]; adult heart development [GO:0007512]; ATP metabolic process [GO:0046034]; atrial cardiac muscle tissue morphogenesis [GO:0055009]; BMP signaling pathway [GO:0030509]; canonical Wnt signaling pathway [GO:0060070]; cardiac muscle contraction [GO:0060048]; cardiac muscle fiber development [GO:0048739]; cardiac muscle hypertrophy in response to stress [GO:0014898]; in utero embryonic development [GO:0001701]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; myofibril assembly [GO:0030239]; regulation of ATPase activity [GO:0043462]; regulation of blood pressure [GO:0008217]; regulation of heart contraction [GO:0008016]; regulation of heart growth [GO:0060420]; regulation of heart rate [GO:0002027]; regulation of the force of heart contraction [GO:0002026]; sarcomere organization [GO:0045214]; striated muscle contraction [GO:0006941]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]; visceral muscle development [GO:0007522]

snps:
rs28711516 rs442275 rs201327273 rs387906656 rs11847151 rs267606907 rs267606903 rs267606906 rs143978652 rs267606904 rs365990 rs28730771 rs34935550 rs267606905 rs199936506 rs45574136 rs1059854 


uniprotID: P12883
geneSymbol: MYH7
length: 1935
go: ENSG00000092054;
pdb:
1IK2;2FXM;2FXO;3DTP;4DB1;4P7H;4PA0;4XA1;4XA3;4XA4;4XA6;5CHX;5CJ0;5CJ1;5CJ4;5TBY;5WJ7;5WJB;5WLQ;5WLZ;5WME;

name:
Myosin-7 (Myosin heavy chain 7) (Myosin heavy chain slow isoform) (MyHC-slow) (Myosin heavy chain, cardiac muscle beta isoform) (MyHC-beta)

sequence:

opentargets:
muscle myosin complex [GO:0005859]; myofibril [GO:0030016]; myosin complex [GO:0016459]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; adult heart development [GO:0007512]; ATP metabolic process [GO:0046034]; cardiac muscle contraction [GO:0060048]; cardiac muscle hypertrophy in response to stress [GO:0014898]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; regulation of heart rate [GO:0002027]; regulation of slow-twitch skeletal muscle fiber contraction [GO:0031449]; regulation of the force of heart contraction [GO:0002026]; regulation of the force of skeletal muscle contraction [GO:0014728]; skeletal muscle contraction [GO:0003009]; striated muscle contraction [GO:0006941]; transition between fast and slow fiber [GO:0014883]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

snps:
rs3729993 rs186964570 rs376160714 rs771132107 rs2754166 rs397516183 rs727503278 rs397516209 rs727503278 rs397516212 rs772691929 rs1057517771 rs786205906 rs1057517772 rs730880844 rs397516258 rs397516260 rs727504273 rs727503277 rs121913645 rs267606910 rs730880849 rs3218713 rs121913633 rs730880855 rs397516269 rs397515482 rs376897125 rs121913640 rs730880864 rs397516088 rs121913624 rs121913624 rs3218714 rs730880867 rs397516095 rs730880868 rs397516097 rs727503266 rs397516098 rs121913653 rs121913625 rs397516101 rs121913625 rs4981473 rs727504236 rs121913651 rs267606911 rs3218715 rs727504286 rs397516110 rs121913636 rs727504237 rs121913642 rs730880879 rs727504238 rs121913626 rs121913626 rs730880880 rs121913627 rs121913646 rs397516127 rs371898076 rs727503263 rs727504240 rs886039030 rs730880732 rs397516130 rs121913638 rs121913641 rs121913637 rs121913630 rs121913630 rs121913644 rs727504241 rs863225097 rs727503261 rs121913632 rs121913632 rs786205907 rs397516139 rs730880735 rs727504253 rs121913643 rs727503260 rs2069544 rs121913634 rs886039185 rs145677314 rs376754645 rs3218716 rs730880742 rs730880748 rs397516157 rs2754158 rs2856897 rs730880750 rs202141173 rs36211715 rs36211715 rs397516160 rs397516161 rs267606908 rs121913631 rs730880759 rs121913628 rs397516170 rs727503252 rs397516171 rs121913639 rs121913629 rs755392435 rs397516179 rs1041961 rs886039090 rs758889483 rs141764279 rs727503246 rs45451303 rs397516201 rs397516202 rs730880910 rs201895208 rs145213771 rs397516208 rs201307101 rs139646545 rs3729823 rs121913647 rs397516222 rs750987717 rs397516232 rs797044601 rs797044602 rs121913650 rs730880916 rs545585809 rs397516241 rs369437262 rs200939753 rs121913654 rs145734640 rs28933098 rs372381770 rs121913652 rs121913649 rs730880918 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril {ECO:0000250|UniProtKB:P02564}. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:P02564}. Note=Thick filaments of the myofibrils. {ECO:0000250|UniProtKB:P02564}.


uniprotID: Q86YR7
geneSymbol: MCF2L2
length: 1114
go: ENSG00000053524;
snps: rs12632177 rs13082605 rs7639705 rs2293203 rs3732602 rs767614039 rs9826325 rs6804951 rs35070271
name:
Probable guanine nucleotide exchange factor MCF2L2 (Dbs-related Rho family guanine nucleotide exchange factor) (MCF2-transforming sequence-like protein 2)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86YR7-1; Sequence=Displayed; Name=2; IsoId=Q86YR7-2; Sequence=VSP_033874, VSP_033875; Name=3; IsoId=Q86YR7-3; Sequence=VSP_033872, VSP_033873; Note=No experimental confirmation available.; Name=4; IsoId=Q86YR7-4; Sequence=VSP_033876; 


uniprotID: Q8N468
geneSymbol: MFSD4A
length: 514
go: ENSG00000174514;
snps: rs17857119 rs7526132
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Major facilitator superfamily domain-containing protein 4A (Major facilitator superfamily domain-containing protein 4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; glucose transmembrane transporter activity [GO:0005355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N468-1; Sequence=Displayed; Name=2; IsoId=Q8N468-2; Sequence=VSP_057053; Note=No experimental confirmation available.; 


uniprotID: Q9Y4C4
geneSymbol: MFHAS1
length: 1052
go: ENSG00000147324;
snps: rs34984230 rs429433
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24286120}.
name:
Malignant fibrous histiocytoma-amplified sequence 1 (Malignant fibrous histiocytoma-amplified sequence with leucine-rich tandem repeats 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; GTP binding [GO:0005525]; protein phosphatase 2A binding [GO:0051721]; ubiquitin protein ligase binding [GO:0031625]; erythrocyte differentiation [GO:0030218]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of inflammatory response [GO:0050728]; negative regulation of protein dephosphorylation [GO:0035308]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of toll-like receptor 2 signaling pathway [GO:0034136]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of toll-like receptor 2 signaling pathway [GO:0034137]; regulation of macrophage activation [GO:0043030]


uniprotID: O00587
geneSymbol: MFNG
reactome: R-HSA-1912420;
length: 321
go: ENSG00000100060;
snps: rs8192548
name:
Beta-1,3-N-acetylglucosaminyltransferase manic fringe (EC 2.4.1.222) (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of Golgi membrane [GO:0030173]; acetylglucosaminyltransferase activity [GO:0008375]; metal ion binding [GO:0046872]; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity [GO:0033829]; blastocyst formation [GO:0001825]; marginal zone B cell differentiation [GO:0002315]; pattern specification process [GO:0007389]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of protein binding [GO:0032092]; protein O-linked fucosylation [GO:0036066]; regulation of Notch signaling pathway [GO:0008593]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00587-1; Sequence=Displayed; Name=2; IsoId=O00587-2; Sequence=VSP_042857; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: Q8IWA4
geneSymbol: MFN1
reactome: R-HSA-5205685;R-HSA-983231;
pdb: 5GNR;5GNS;5GNT;5GNU;5GO4;5GOE;5GOF;5GOM;5YEW;
name: Mitofusin-1 (EC 3.6.5.-) (Fzo homolog) (Transmembrane GTPase MFN1)
length: 741
go: ENSG00000171109;
snps: rs7637065
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of mitochondrial outer membrane [GO:0031307]; intrinsic component of mitochondrial outer membrane [GO:0031306]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; outer mitochondrial membrane protein complex [GO:0098799]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; GTP metabolic process [GO:0046039]; macroautophagy [GO:0016236]; mitochondrial fusion [GO:0008053]; mitochondrial membrane fusion [GO:1990613]; mitochondrion localization [GO:0051646]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=TG741 {ECO:0000303|PubMed:11751411}; IsoId=Q8IWA4-1; Sequence=Displayed; Name=2; Synonyms=TG370 {ECO:0000303|PubMed:11751411}; IsoId=Q8IWA4-2; Sequence=VSP_010362, VSP_010363; Name=3; IsoId=Q8IWA4-3; Sequence=VSP_010364; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:12759376, ECO:0000305|PubMed:27920125}; Multi-pass membrane protein {ECO:0000305|PubMed:12759376}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:11751411}.


uniprotID: Q6ZSS7
geneSymbol: MFSD6
length: 791
go: ENSG00000151690;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
snps: rs9646748
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Major facilitator superfamily domain-containing protein 6 (Macrophage MHC class I receptor 2 homolog)

sequence:


uniprotID: Q8NHS3
geneSymbol: MFSD8
length: 518
go: ENSG00000164073;
name:
Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; nucleoplasm [GO:0005654]; lysosome organization [GO:0007040]; neuron development [GO:0048666]; regulation of autophagy [GO:0010506]; transmembrane transport [GO:0055085]

snps:
rs779838200 rs11732377 rs118203978 rs749704755 rs1162750836 rs140948465 rs118203975 rs150418024 rs11098943 rs267607235 rs3733319 rs118203976 rs1275962600 rs764549054 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHS3-1; Sequence=Displayed; Name=2; IsoId=Q8NHS3-2; Sequence=VSP_057054, VSP_057055, VSP_057056, VSP_057057; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17564970, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:20406422}; Multi-pass membrane protein {ECO:0000269|PubMed:17564970, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:20406422}. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.


uniprotID: Q96ES6
geneSymbol: MFSD3
name: Major facilitator superfamily domain-containing protein 3
length: 412
go: ENSG00000167700;
opentargets: integral component of membrane [GO:0016021]; solute:proton symporter activity [GO:0015295]
snps: rs2306387
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6N075
geneSymbol: MFSD5
length: 450
go: ENSG00000182544;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Molybdate-anion transporter (Major facilitator superfamily domain-containing protein 5) (Molybdate transporter 2 homolog) (hsMOT2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; molybdate ion transmembrane transporter activity [GO:0015098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6N075-1; Sequence=Displayed; Name=2; IsoId=Q6N075-2; Sequence=VSP_046647; Note=No experimental confirmation available.; 


uniprotID: Q10469
geneSymbol: MGAT2
reactome: R-HSA-4793952;R-HSA-975578;
pdb: 5VCM;5VCR;5VCS;
length: 447
go: ENSG00000168282;
snps: rs104894447 rs104894446 rs104894448
name:
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC 2.4.1.143) (Beta-1,2-N-acetylglucosaminyltransferase II) (GlcNAc-T II) (GNT-II) (Mannoside acetylglucosaminyltransferase 2) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity [GO:0008455]; carbohydrate binding [GO:0030246]; manganese ion binding [GO:0030145]; protein homodimerization activity [GO:0042803]; oligosaccharide biosynthetic process [GO:0009312]; oligosaccharide metabolic process [GO:0009311]; protein N-linked glycosylation via asparagine [GO:0018279]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:20378551}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: P35579
geneSymbol: MYH9
pdb: 2LNK;3ZWH;4CFQ;4CFR;4ETO;
length: 1960
go: ENSG00000100345;
reactome:
R-HSA-1445148;R-HSA-2029482;R-HSA-3928663;R-HSA-416572;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;

name:
Myosin-9 (Cellular myosin heavy chain, type A) (Myosin heavy chain 9) (Myosin heavy chain, non-muscle IIa) (Non-muscle myosin heavy chain A) (NMMHC-A) (Non-muscle myosin heavy chain IIa) (NMMHC II-a) (NMMHC-IIA)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actomyosin [GO:0042641]; actomyosin contractile ring [GO:0005826]; brush border [GO:0005903]; cell leading edge [GO:0031252]; cell-cell adherens junction [GO:0005913]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; immunological synapse [GO:0001772]; membrane [GO:0016020]; myosin II complex [GO:0016460]; myosin II filament [GO:0097513]; neuromuscular junction [GO:0031594]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ruffle [GO:0001726]; spindle [GO:0005819]; stress fiber [GO:0001725]; uropod [GO:0001931]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; integrin binding [GO:0005178]; microfilament motor activity [GO:0000146]; motor activity [GO:0003774]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein membrane anchor [GO:0043495]; RNA binding [GO:0003723]; actin cytoskeleton reorganization [GO:0031532]; actin filament-based movement [GO:0030048]; actomyosin structure organization [GO:0031032]; angiogenesis [GO:0001525]; blood vessel endothelial cell migration [GO:0043534]; cytokinetic process [GO:0032506]; establishment of meiotic spindle localization [GO:0051295]; establishment of T cell polarity [GO:0001768]; in utero embryonic development [GO:0001701]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; meiotic spindle organization [GO:0000212]; membrane protein ectodomain proteolysis [GO:0006509]; monocyte differentiation [GO:0030224]; myoblast fusion [GO:0007520]; negative regulation of actin filament severing [GO:1903919]; phagocytosis, engulfment [GO:0006911]; platelet aggregation [GO:0070527]; platelet formation [GO:0030220]; positive regulation of protein processing in phagocytic vesicle [GO:1903923]; protein transport [GO:0015031]; regulation of cell shape [GO:0008360]; uropod organization [GO:0032796]

snps:
rs121913655 rs121913657 rs80338826 rs80338827 rs80338828 rs554332083 rs16996652 rs200901330 rs121913656 rs80338829 rs80338830 rs76368635 rs80338831 rs80338831 rs80338831 rs2269529 rs762773112 rs80338834 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35579-1; Sequence=Displayed; Name=2; IsoId=P35579-2; Sequence=VSP_035409, VSP_035410; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8VDD5}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q8VDD5}. Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (PubMed:20052411). In retinal pigment epithelial cells, predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (PubMed:27331610). {ECO:0000269|PubMed:20052411, ECO:0000269|PubMed:27331610}.


uniprotID: Q9BUA6
geneSymbol: MYL10
reactome: R-HSA-445355;
length: 226
go: ENSG00000106436;
snps: rs12216595
name:
Myosin regulatory light chain 10 (Myosin light chain 2, lymphocyte-specific) (Precursor lymphocyte-specific regulatory light chain)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; calcium ion binding [GO:0005509]; muscle contraction [GO:0006936]


uniprotID: P14649
geneSymbol: MYL6B
reactome: R-HSA-445355;
pdb: 1OE9;1W7I;1W7J;
length: 208
go: ENSG00000196465;
name:
Myosin light chain 6B (Myosin light chain 1 slow-twitch muscle A isoform) (MLC1sa) (Smooth muscle and nonmuscle myosin light chain alkali 6B)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; muscle myosin complex [GO:0005859]; myosin complex [GO:0016459]; unconventional myosin complex [GO:0016461]; calcium ion binding [GO:0005509]; motor activity [GO:0003774]; structural constituent of muscle [GO:0008307]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; skeletal muscle tissue development [GO:0007519]


uniprotID: P61326
geneSymbol: MAGOH
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;R-HSA-9010553;R-HSA-975957;
pdb: 1P27;2HYI;2J0Q;2J0S;2XB2;3EX7;
name: Protein mago nashi homolog
length: 146
go: ENSG00000162385;
sequence:
MESDFYLRYYVGHKGKFGHEFLEFEFRPDGKLRYANNSNYKNDVMIRKEAYVHKSVMEELKRIIDDSEITKEDDALWPPPDRVGRQELEIVIGDEHISFTTSKIGSLIDVNQSKDPEGLRVFYYLVQDLKCLVFSLIGLHFKIKPI

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; exon-exon junction complex [GO:0035145]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of translation [GO:0006417]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61326-1; Sequence=Displayed; Name=2; IsoId=P61326-2; Sequence=VSP_056246; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19324961}. Nucleus speckle {ECO:0000269|PubMed:19324961}. Cytoplasm {ECO:0000269|PubMed:19324961}. Note=Detected in granule-like structures in the dendroplasm (By similarity). Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles. {ECO:0000250}.


uniprotID: P16455
geneSymbol: MGMT
reactome: R-HSA-5657655;
pdb: 1EH6;1EH7;1EH8;1QNT;1T38;1T39;1YFH;
length: 207
drug: DB04531;DB00151;DB02216;
snps: rs2020893 rs12917 rs2308322 rs2282164 rs12917 rs2308321 rs2308321 rs2308318 rs2308320 rs2308327
location: SUBCELLULAR LOCATION: Nucleus.
name:
Methylated-DNA--protein-cysteine methyltransferase (EC 2.1.1.63) (6-O-methylguanine-DNA methyltransferase) (MGMT) (O-6-methylguanine-DNA-alkyltransferase)

sequence:

opentargets:
membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; DNA binding [GO:0003677]; DNA-methyltransferase activity [GO:0009008]; methylated-DNA-[protein]-cysteine S-methyltransferase activity [GO:0003908]; methyltransferase activity [GO:0008168]; cellular response to ionizing radiation [GO:0071479]; cellular response to organic cyclic compound [GO:0071407]; cellular response to oxidative stress [GO:0034599]; DNA dealkylation involved in DNA repair [GO:0006307]; DNA ligation [GO:0006266]; DNA repair [GO:0006281]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of apoptotic process [GO:0043066]; positive regulation of double-strand break repair [GO:2000781]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; response to ethanol [GO:0045471]; response to folic acid [GO:0051593]


uniprotID: Q32MK0
geneSymbol: MYLK3
name: Myosin light chain kinase 3 (EC 2.7.11.18) (Cardiac-MyBP-C-associated Ca/CaM kinase) (Cardiac-MLCK)
length: 819
go: ENSG00000140795;
snps: rs9923813 rs28407821 rs141602742
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; calmodulin-dependent protein kinase activity [GO:0004683]; myosin light chain kinase activity [GO:0004687]; cardiac myofibril assembly [GO:0055003]; cellular response to interleukin-1 [GO:0071347]; positive regulation of sarcomere organization [GO:0060298]; protein phosphorylation [GO:0006468]; regulation of vascular permeability involved in acute inflammatory response [GO:0002528]; sarcomere organization [GO:0045214]; sarcomerogenesis [GO:0048769]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q32MK0-3; Sequence=Displayed; Name=2; IsoId=Q32MK0-4; Sequence=VSP_044312; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GTQ4
geneSymbol: MYMX
name: Protein myomixer (Microprotein inducer of fusion) (Protein minion) (hMINION)
sequence: MPTPLLPLLLRLLLSCLLLPAARLARQYLLPLLRRLARRLGSQDMREALLGCLLFILSQRHSPDAGEASRVDRLERRERLGPQK
length: 84
go: ENSG00000262179;
opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; myoblast fusion [GO:0007520]; plasma membrane fusion [GO:0045026]; skeletal muscle organ development [GO:0060538]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q2Q5T5}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q2Q5T5}. Note=The protein is embedded in the cell membrane. It is unclear whether the N-terminal hydrophobic region corresponds to a signal sequence, a transmembrane region or associates with the membrane without crossing it. {ECO:0000250|UniProtKB:Q2Q5T5}.


uniprotID: O60291
geneSymbol: MGRN1
reactome: R-HSA-983168;
length: 552
go: ENSG00000102858;
name:
E3 ubiquitin-protein ligase MGRN1 (EC 2.3.2.27) (Mahogunin RING finger protein 1) (RING finger protein 156) (RING-type E3 ubiquitin transferase MGRN1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; endosome to lysosome transport [GO:0008333]; negative regulation of cAMP-mediated signaling [GO:0043951]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; negative regulation of smoothened signaling pathway [GO:0045879]; protein monoubiquitination [GO:0006513]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=(+)S; IsoId=O60291-1; Sequence=Displayed; Name=2; Synonyms=(+)L; IsoId=O60291-2; Sequence=VSP_019853; Name=3; Synonyms=(-)L; IsoId=O60291-3; Sequence=VSP_036462, VSP_019853; Name=4; Synonyms=(-)S; IsoId=O60291-4; Sequence=VSP_036462; 

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:17229889, ECO:0000269|PubMed:19737927}. Note=The endosomal localization is dependent on the interaction with TSG101.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytosol. Nucleus. Note=Translocation from the cytosol to the nucleus is seen only in the presence of MC1R and MC4R, but not TBXA2R. Excluded from nucleoli.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol. Nucleus. Note=Translocation from the cytosol to the nucleus is seen only in the presence of MC1R and MC4R, but not TBXA2R. Excluded from nucleoli.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytosol. Cell membrane.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm, cytosol. Cell membrane.


