# annotation

uniprotID: Q99797
geneSymbol: MIPEP
name: Mitochondrial intermediate peptidase (MIP) (EC 3.4.24.59)
length: 713
go: ENSG00000027001;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; peptide metabolic process [GO:0006518]; protein processing involved in protein targeting to mitochondrion [GO:0006627]; proteolysis [GO:0006508]

snps:
rs1057518740 rs2312296 rs143912947 rs11551114 rs1057518741 rs12858248 rs7333040 rs779598020 rs1057518739 


uniprotID: Q8TD10
geneSymbol: MIPOL1
name: Mirror-image polydactyly gene 1 protein
length: 442
go: ENSG00000151338;
opentargets: nucleus [GO:0005634]; identical protein binding [GO:0042802]
snps: rs35870036
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TD10-1; Sequence=Displayed; Name=2; IsoId=Q8TD10-2; Sequence=VSP_009460; Name=3; IsoId=Q8TD10-3; Sequence=VSP_009461, VSP_009462; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; 


uniprotID: Q4G0A6
geneSymbol: MINDY4
length: 757
go: ENSG00000106125;
opentargets: thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]
snps: rs34357272 rs17159453 rs12701034 rs35897481 rs12672119 rs34970833 rs10216063
name:
Probable ubiquitin carboxyl-terminal hydrolase MINDY-4 (EC 3.4.19.12) (Probable deubiquitinating enzyme MINDY-4)

sequence:


uniprotID: Q9UGB7
geneSymbol: MIOX
reactome: R-HSA-1855183;
pdb: 2IBN;
length: 285
go: ENSG00000100253;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Inositol oxygenase (EC 1.13.99.1) (Aldehyde reductase-like 6) (Kidney-specific protein 32) (Myo-inositol oxygenase) (MI oxygenase) (Renal-specific oxidoreductase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inclusion body [GO:0016234]; aldo-keto reductase (NADP) activity [GO:0004033]; ferric iron binding [GO:0008199]; inositol oxygenase activity [GO:0050113]; oxidoreductase activity, acting on NAD(P)H [GO:0016651]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen [GO:0016701]; inositol catabolic process [GO:0019310]; inositol phosphate metabolic process [GO:0043647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGB7-1; Sequence=Displayed; Name=2; IsoId=Q9UGB7-2; Sequence=VSP_041667, VSP_041668; 


uniprotID: Q75NE6
geneSymbol: MIR17HG
name: Putative microRNA 17 host gene protein (Putative microRNA host gene 1 protein)
sequence: MFCHVDVKISSKRYTWTKLPLNVPKLVLIYLQSHFVLFFFSMCQSIWERPAIGRATTSSASWMVGYDCLL
length: 70
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=B; IsoId=Q75NE6-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q75NE6-2; Sequence=VSP_022775, VSP_022776; 


uniprotID: Q8IXI2
geneSymbol: RHOT1
reactome: R-HSA-194840;R-HSA-5689880;
pdb: 5KSO;5KSP;5KSY;5KSZ;5KTY;5KU1;
length: 618
go: ENSG00000126858;
name:
Mitochondrial Rho GTPase 1 (MIRO-1) (hMiro-1) (EC 3.6.5.-) (Rac-GTP-binding protein-like protein) (Ras homolog gene family member T1)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of mitochondrial outer membrane [GO:0031307]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cellular homeostasis [GO:0019725]; establishment of mitochondrion localization by microtubule attachment [GO:0034640]; mitochondrial outer membrane permeabilization [GO:0097345]; mitochondrion organization [GO:0007005]; mitochondrion transport along microtubule [GO:0047497]; protein deubiquitination [GO:0016579]; regulation of mitochondrion organization [GO:0010821]; regulation of neurotransmitter secretion [GO:0046928]; regulation of organelle transport along microtubule [GO:1902513]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8IXI2-1; Sequence=Displayed; Name=2; IsoId=Q8IXI2-2; Sequence=VSP_019155; Name=3; IsoId=Q8IXI2-3; Sequence=VSP_019156; Name=4; IsoId=Q8IXI2-4; Sequence=VSP_019157; Note=No experimental confirmation available.; Name=5; IsoId=Q8IXI2-5; Sequence=VSP_019158; Note=No experimental confirmation available.; Name=6; IsoId=Q8IXI2-6; Sequence=VSP_019153, VSP_019154; Note=No experimental confirmation available.; Name=7; IsoId=Q8IXI2-7; Sequence=VSP_047651; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:12482879, ECO:0000269|PubMed:19528298}; Single-pass type IV membrane protein {ECO:0000269|PubMed:12482879, ECO:0000269|PubMed:19528298}. Note=Colocalizes with MGARP and RHOT2 at the mitochondria.


uniprotID: P53778
geneSymbol: MAPK12
reactome: R-HSA-168638;R-HSA-171007;R-HSA-2151209;R-HSA-375170;R-HSA-376172;R-HSA-4420097;
pdb: 1CM8;4QUM;
length: 367
go: ENSG00000188130;
drug: DB05403;DB05157;DB04395;DB02482;
snps: rs34422484 rs35396905 rs2066776
name:
Mitogen-activated protein kinase 12 (MAP kinase 12) (MAPK 12) (EC 2.7.11.24) (Extracellular signal-regulated kinase 6) (ERK-6) (Mitogen-activated protein kinase p38 gamma) (MAP kinase p38 gamma) (Stress-activated protein kinase 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; MAP kinase activity [GO:0004707]; protein serine/threonine kinase activity [GO:0004674]; cell cycle arrest [GO:0007050]; cellular response to organic substance [GO:0071310]; DNA damage induced protein phosphorylation [GO:0006975]; intracellular signal transduction [GO:0035556]; muscle organ development [GO:0007517]; myoblast differentiation [GO:0045445]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of peptidase activity [GO:0010952]; regulation of gene expression [GO:0010468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53778-1; Sequence=Displayed; Name=2; IsoId=P53778-2; Sequence=VSP_055224; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion. Note=Mitochondrial when associated with SH3BP5. In skeletal muscle colocalizes with SNTA1 at the neuromuscular junction and throughout the sarcolemma (By similarity). {ECO:0000250}.


uniprotID: A8MYZ0
geneSymbol: MINDY4B
name: Inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B (Protein FAM188B2)
length: 460
go: ENSG00000214237;
sequence:


uniprotID: Q96FF7
geneSymbol: MISP3
name: Uncharacterized protein MISP3 (MISP family member 3)
length: 219
go: ENSG00000141854;
snps: rs7258963
sequence:


uniprotID: P28482
geneSymbol: MAPK1
length: 360
go: ENSG00000100030;
drug: DB07264;DB08521;DB08513;DB01169;DB01064;DB07010;DB02116;DB02482;DB02733;DB04338;DB11120;
reactome:
R-HSA-111995;R-HSA-112409;R-HSA-112411;R-HSA-1295596;R-HSA-162658;R-HSA-198753;R-HSA-202670;R-HSA-2029482;R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-2871796;R-HSA-3371453;R-HSA-375165;R-HSA-437239;R-HSA-442742;R-HSA-444257;R-HSA-445144;R-HSA-450341;R-HSA-456926;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5663213;R-HSA-5673001;R-HSA-5674135;R-HSA-5674499;R-HSA-5675221;R-HSA-6798695;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-6811558;R-HSA-74749;R-HSA-879415;R-HSA-881907;R-HSA-8939211;R-HSA-8940973;R-HSA-8943724;R-HSA-982772;

pdb:
1PME;1TVO;1WZY;2OJG;2OJI;2OJJ;2Y9Q;3D42;3D44;3I5Z;3I60;3SA0;3TEI;3W55;4FMQ;4FUX;4FUY;4FV0;4FV1;4FV2;4FV3;4FV4;4FV5;4FV6;4FV7;4FV8;4FV9;4G6N;4G6O;4H3P;4H3Q;4IZ5;4IZ7;4IZA;4N0S;4NIF;4O6E;4QP1;4QP2;4QP3;4QP4;4QP6;4QP7;4QP8;4QP9;4QPA;4QTA;4QTE;4XJ0;4ZXT;4ZZM;4ZZN;4ZZO;5AX3;5BUE;5BUI;5BUJ;5BVD;5BVE;5BVF;5K4I;5LCJ;5LCK;5NGU;5NHF;5NHH;5NHJ;5NHL;5NHO;5NHP;5NHV;5V60;5V61;5V62;5WP1;6G8X;6G91;6G92;6G93;6G97;6G9A;6G9D;6G9H;6G9J;6G9K;6G9M;6G9N;6GDM;6GDQ;6GE0;

name:
Mitogen-activated protein kinase 1 (MAP kinase 1) (MAPK 1) (EC 2.7.11.24) (ERT1) (Extracellular signal-regulated kinase 2) (ERK-2) (MAP kinase isoform p42) (p42-MAPK) (Mitogen-activated protein kinase 2) (MAP kinase 2) (MAPK 2)

sequence:

opentargets:
axon [GO:0030424]; azurophil granule lumen [GO:0035578]; caveola [GO:0005901]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; early endosome [GO:0005769]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; pseudopodium [GO:0031143]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; MAP kinase activity [GO:0004707]; MAP kinase kinase activity [GO:0004708]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; phosphatase binding [GO:0019902]; phosphotyrosine residue binding [GO:0001784]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; transcription factor binding [GO:0008134]; activation of MAPK activity [GO:0000187]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; B cell receptor signaling pathway [GO:0050853]; Bergmann glial cell differentiation [GO:0060020]; cardiac neural crest cell development involved in heart development [GO:0061308]; caveolin-mediated endocytosis [GO:0072584]; cell cycle [GO:0007049]; cellular response to amino acid starvation [GO:0034198]; cellular response to cadmium ion [GO:0071276]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to dopamine [GO:1903351]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; cellular response to organic substance [GO:0071310]; cellular response to reactive oxygen species [GO:0034614]; cellular response to tumor necrosis factor [GO:0071356]; chemical synaptic transmission [GO:0007268]; chemotaxis [GO:0006935]; cytosine metabolic process [GO:0019858]; diadenosine tetraphosphate biosynthetic process [GO:0015966]; ERBB signaling pathway [GO:0038127]; ERK1 and ERK2 cascade [GO:0070371]; face development [GO:0060324]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; fibroblast growth factor receptor signaling pathway [GO:0008543]; intracellular signal transduction [GO:0035556]; labyrinthine layer blood vessel development [GO:0060716]; learning or memory [GO:0007611]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; long-term synaptic potentiation [GO:0060291]; lung morphogenesis [GO:0060425]; mammary gland epithelial cell proliferation [GO:0033598]; MAPK cascade [GO:0000165]; negative regulation of cell differentiation [GO:0045596]; neutrophil degranulation [GO:0043312]; outer ear morphogenesis [GO:0042473]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; platelet activation [GO:0030168]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; protein phosphorylation [GO:0006468]; regulation of cellular pH [GO:0030641]; regulation of cellular response to heat [GO:1900034]; regulation of cytoskeleton organization [GO:0051493]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of early endosome to late endosome transport [GO:2000641]; regulation of gene expression [GO:0010468]; regulation of Golgi inheritance [GO:0090170]; regulation of ossification [GO:0030278]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of protein stability [GO:0031647]; regulation of stress-activated MAPK cascade [GO:0032872]; response to epidermal growth factor [GO:0070849]; response to estrogen [GO:0043627]; response to exogenous dsRNA [GO:0043330]; response to nicotine [GO:0035094]; sensory perception of pain [GO:0019233]; signal transduction [GO:0007165]; stress-activated MAPK cascade [GO:0051403]; T cell receptor signaling pathway [GO:0050852]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trachea formation [GO:0060440]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28482-1; Sequence=Displayed; Name=2; IsoId=P28482-2; Sequence=VSP_047815; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Membrane, caveola {ECO:0000250|UniProtKB:P63086}. Note=Associated with the spindle during prometaphase and metaphase (By similarity). PEA15-binding and phosphorylated DAPK1 promote its cytoplasmic retention. Phosphorylation at Ser- 246 and Ser-248 as well as autophosphorylation at Thr-190 promote nuclear localization. {ECO:0000250}.


uniprotID: Q16539
geneSymbol: MAPK14
length: 360
go: ENSG00000112062;
snps: rs45496794
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7535770}. Nucleus {ECO:0000269|PubMed:7535770}.
reactome:
R-HSA-168638;R-HSA-171007;R-HSA-198753;R-HSA-2151209;R-HSA-2559580;R-HSA-375170;R-HSA-376172;R-HSA-418592;R-HSA-432142;R-HSA-4420097;R-HSA-450302;R-HSA-450341;R-HSA-450604;R-HSA-6798695;R-HSA-6804756;

pdb:
1A9U;1BL6;1BL7;1BMK;1DI9;1IAN;1KV1;1KV2;1M7Q;1OUK;1OUY;1OVE;1OZ1;1R39;1R3C;1W7H;1W82;1W83;1W84;1WBN;1WBO;1WBS;1WBT;1WBV;1WBW;1WFC;1YQJ;1ZYJ;1ZZ2;1ZZL;2BAJ;2BAK;2BAL;2BAQ;2FSL;2FSM;2FSO;2FST;2GFS;2I0H;2LGC;2NPQ;2OKR;2ONL;2QD9;2RG5;2RG6;2Y8O;2YIS;2YIW;2YIX;2ZAZ;2ZB0;2ZB1;3BV2;3BV3;3BX5;3C5U;3CTQ;3D7Z;3D83;3DS6;3DT1;3E92;3E93;3FC1;3FI4;3FKL;3FKN;3FKO;3FL4;3FLN;3FLQ;3FLS;3FLW;3FLY;3FLZ;3FMH;3FMJ;3FMK;3FML;3FMM;3FMN;3FSF;3FSK;3GC7;3GCP;3GCQ;3GCS;3GCU;3GCV;3GFE;3GI3;3HA8;3HEC;3HEG;3HL7;3HLL;3HP2;3HP5;3HRB;3HUB;3HUC;3HV3;3HV4;3HV5;3HV6;3HV7;3HVC;3IPH;3ITZ;3IW5;3IW6;3IW7;3IW8;3K3I;3K3J;3KF7;3KQ7;3L8S;3L8X;3LFA;3LFB;3LFC;3LFD;3LFE;3LFF;3LHJ;3MGY;3MH0;3MH1;3MH2;3MH3;3MPA;3MPT;3MVL;3MVM;3MW1;3NEW;3NNU;3NNV;3NNW;3NNX;3NWW;3O8P;3O8T;3O8U;3OBG;3OBJ;3OC1;3OCG;3OD6;3ODY;3ODZ;3OEF;3PG3;3QUD;3QUE;3RIN;3ROC;3S3I;3S4Q;3U8W;3UVP;3UVQ;3UVR;3ZS5;3ZSG;3ZSH;3ZSI;3ZYA;4A9Y;4AA0;4AA4;4AA5;4AAC;4DLI;4DLJ;4E5A;4E5B;4E6A;4E6C;4E8A;4EH2;4EH3;4EH4;4EH5;4EH6;4EH7;4EH8;4EH9;4EHV;4EWQ;4F9W;4F9Y;4FA2;4GEO;4KIN;4KIP;4KIQ;4L8M;4R3C;4ZTH;5ETA;5ETC;5ETF;5ETI;5ML5;5MTX;5MTY;5MZ3;5N63;5N64;5N65;5N66;5N67;5N68;5O8U;5O8V;5TBE;5TCO;5WJJ;5XYX;5XYY;6ANL;

name:
Mitogen-activated protein kinase 14 (MAP kinase 14) (MAPK 14) (EC 2.7.11.24) (Cytokine suppressive anti-inflammatory drug-binding protein) (CSAID-binding protein) (CSBP) (MAP kinase MXI2) (MAX-interacting protein 2) (Mitogen-activated protein kinase p38 alpha) (MAP kinase p38 alpha) (Stress-activated protein kinase 2a) (SAPK2a)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; glutamatergic synapse [GO:0098978]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; MAP kinase activity [GO:0004707]; MAP kinase kinase activity [GO:0004708]; mitogen-activated protein kinase p38 binding [GO:0048273]; NFAT protein binding [GO:0051525]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cartilage condensation [GO:0001502]; cell morphogenesis [GO:0000902]; cell surface receptor signaling pathway [GO:0007166]; cellular response to ionizing radiation [GO:0071479]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to lipoteichoic acid [GO:0071223]; cellular response to organic substance [GO:0071310]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; cellular response to virus [GO:0098586]; chemotaxis [GO:0006935]; chondrocyte differentiation [GO:0002062]; DNA damage checkpoint [GO:0000077]; fatty acid oxidation [GO:0019395]; glucose metabolic process [GO:0006006]; intracellular signal transduction [GO:0035556]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; neutrophil degranulation [GO:0043312]; osteoclast differentiation [GO:0030316]; p38MAPK cascade [GO:0038066]; peptidyl-serine phosphorylation [GO:0018105]; placenta development [GO:0001890]; positive regulation of brown fat cell differentiation [GO:0090336]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cyclase activity [GO:0031281]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose import [GO:0046326]; positive regulation of interleukin-12 secretion [GO:2001184]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of metallopeptidase activity [GO:1905050]; 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 myotube differentiation [GO:0010831]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cytokine production involved in inflammatory response [GO:1900015]; regulation of gene expression [GO:0010468]; regulation of ossification [GO:0030278]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of synaptic membrane adhesion [GO:0099179]; regulation of transcription by RNA polymerase II [GO:0006357]; response to muramyl dipeptide [GO:0032495]; response to muscle stretch [GO:0035994]; signal transduction [GO:0007165]; signal transduction in response to DNA damage [GO:0042770]; skeletal muscle tissue development [GO:0007519]; stress-induced premature senescence [GO:0090400]; striated muscle cell differentiation [GO:0051146]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

drug:
DB02277;DB03044;DB06882;DB08395;DB03110;DB07942;DB07943;DB08093;DB02352;DB08730;DB08091;DB08092;DB04632;DB08522;DB03980;DB07829;DB07607;DB08521;DB01761;DB07459;DB01988;DB08423;DB01953;DB05157;DB08064;DB08068;DB07307;DB08351;DB04338;DB05412;DB04797;DB05470;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=CSBP2; IsoId=Q16539-1; Sequence=Displayed; Name=CSBP1; IsoId=Q16539-2; Sequence=VSP_004842; Name=Mxi2; IsoId=Q16539-3; Sequence=VSP_004844; Name=Exip; Synonyms=Exon skip; IsoId=Q16539-4; Sequence=VSP_004843, VSP_004845; Name=5; IsoId=Q16539-5; Sequence=VSP_057194; 


uniprotID: Q9UHC7
geneSymbol: MKRN1
reactome: R-HSA-198323;R-HSA-8948751;R-HSA-983168;
length: 482
go: ENSG00000133606;
snps: rs2272095 rs1062786
name:
E3 ubiquitin-protein ligase makorin-1 (EC 2.3.2.27) (RING finger protein 61) (RING-type E3 ubiquitin transferase makorin-1)

sequence:

opentargets:
cytosol [GO:0005829]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHC7-1; Sequence=Displayed; Name=2; IsoId=Q9UHC7-2; Sequence=VSP_040361; Note=No experimental confirmation available.; Name=3; IsoId=Q9UHC7-3; Sequence=VSP_040363, VSP_040364; Note=No experimental confirmation available.; Name=4; IsoId=Q9UHC7-4; Sequence=VSP_040362; Note=No experimental confirmation available.; 


uniprotID: Q9BYG3
geneSymbol: NIFK
pdb: 2AFF;
length: 293
go: ENSG00000155438;
snps: rs17852212
name:
MKI67 FHA domain-interacting nucleolar phosphoprotein (Nucleolar phosphoprotein Nopp34) (Nucleolar protein interacting with the FHA domain of pKI-67) (hNIFK)

sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; protein-containing complex assembly [GO:0065003]; rRNA metabolic process [GO:0016072]; rRNA transcription [GO:0009303]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Chromosome. Note=Localizes to mitotic chromosomes in conjunction with MKI67.


uniprotID: Q5HYA8
geneSymbol: TMEM67
reactome: R-HSA-5620912;
name: Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67)
length: 995
go: ENSG00000164953;
sequence:

opentargets:
centrosome [GO:0005813]; ciliary membrane [GO:0060170]; ciliary transition zone [GO:0035869]; cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; MKS complex [GO:0036038]; filamin binding [GO:0031005]; unfolded protein binding [GO:0051082]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; negative regulation of centrosome duplication [GO:0010826]; ubiquitin-dependent ERAD pathway [GO:0030433]

snps:
rs386834188 rs772437766 rs762543032 rs797046045 rs375824494 rs863225226 rs750950408 rs202036490 rs386834206 rs202149403 rs863225227 rs35793208 rs267607117 rs386834208 rs756906837 rs111619594 rs386834180 rs863225232 rs863225235 rs863225231 rs137853106 rs35765535 rs386834182 rs752362727 rs386834183 rs863225228 rs137853107 rs267607114 rs1017800436 rs267607115 rs3134031 rs201893408 rs757204749 rs863225225 rs386834189 rs781383498 rs777137476 rs386834193 rs267607116 rs267607116 rs267607119 rs863225234 rs386834194 rs863225233 rs386834199 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5HYA8-1; Sequence=Displayed; Name=2; IsoId=Q5HYA8-3; Sequence=VSP_044475; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17185389}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19815549}; Multi-pass membrane protein {ECO:0000255}. Cell projection, cilium {ECO:0000269|PubMed:17185389}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22121117}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:22121117). {ECO:0000269|PubMed:22121117}.


uniprotID: Q9BUB5
geneSymbol: MKNK1
reactome: R-HSA-1295596;
pdb: 2HW6;2Y9Q;5WVD;
length: 465
go: ENSG00000079277;
snps: rs56351860 rs56408722 rs55791614 rs34881418
location: SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus.
name:
MAP kinase-interacting serine/threonine-protein kinase 1 (EC 2.7.11.1) (MAP kinase signal-integrating kinase 1) (MAPK signal-integrating kinase 1) (Mnk1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calcium-dependent protein serine/threonine kinase activity [GO:0009931]; calmodulin-dependent protein kinase activity [GO:0004683]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11463832}; IsoId=Q9BUB5-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9155018}; Synonyms=MNK1a; IsoId=Q9BUB5-2; Sequence=VSP_007352; Name=3; Synonyms=MNK1b; IsoId=Q9BUB5-3; Sequence=VSP_007352, VSP_017515; 


uniprotID: Q8NB16
geneSymbol: MLKL
reactome: R-HSA-3295583;R-HSA-5213460;
pdb: 2MSV;4M67;4MWI;5KNJ;5KO1;6BWK;
name: Mixed lineage kinase domain-like protein (hMLKL)
length: 471
go: ENSG00000168404;
snps: rs34251827 rs33987771 rs35589326 rs34515646 rs55929310 rs1313508921 rs34389205 rs55987292
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; JUN kinase kinase kinase activity [GO:0004706]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein-containing complex binding [GO:0044877]; activation of JUN kinase activity [GO:0007257]; cell surface receptor signaling pathway [GO:0007166]; MAPK cascade [GO:0000165]; necroptotic process [GO:0070266]; protein homotrimerization [GO:0070207]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12471243, ECO:0000269|PubMed:14702039}; IsoId=Q8NB16-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q8NB16-2; Sequence=VSP_052133, VSP_052134; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24316671}. Cell membrane {ECO:0000269|PubMed:24316671, ECO:0000269|PubMed:29883610}. Note=Localizes to the cytoplasm and translocates to the plasma membrane on necroptosis induction.


uniprotID: Q9GZQ8
geneSymbol: MAP1LC3B
reactome: R-HSA-1632852;R-HSA-5205685;R-HSA-8854214;R-HSA-8934903;
length: 125
go: ENSG00000140941;
pdb:
1V49;2LUE;2N9X;2ZJD;3VTU;3VTV;3VTW;3WAO;3X0W;4WAA;5D94;5DCN;5GMV;5MS2;5MS5;5MS6;5V4K;5XAC;5XAD;5XAE;

name:
Microtubule-associated proteins 1A/1B light chain 3B (Autophagy-related protein LC3 B) (Autophagy-related ubiquitin-like modifier LC3 B) (MAP1 light chain 3-like protein 2) (MAP1A/MAP1B light chain 3 B) (MAP1A/MAP1B LC3 B) (Microtubule-associated protein 1 light chain 3 beta)

sequence:
MPSEKTFKQRRTFEQRVEDVRLIREQHPTKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELIKIIRRRLQLNANQAFFLLVNGHSMVSVSTPISEVYESEKDEDGFLYMVYASQETFGMKLSV

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; axoneme [GO:0005930]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; intracellular [GO:0005622]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; organelle membrane [GO:0031090]; microtubule binding [GO:0008017]; ubiquitin protein ligase binding [GO:0031625]; autophagosome assembly [GO:0000045]; autophagosome maturation [GO:0097352]; autophagy [GO:0006914]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]; cellular response to starvation [GO:0009267]; macroautophagy [GO:0016236]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Endomembrane system; Lipid-anchor. Cytoplasmic vesicle, autophagosome membrane; Lipid-anchor. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:20529957, ECO:0000269|PubMed:23459205}. Note=LC3-II binds to the autophagic membranes. Localizes also to discrete punctae along the ciliary axoneme (By similarity). {ECO:0000250}.


uniprotID: Q9NP71
geneSymbol: MLXIPL
reactome: R-HSA-163358;R-HSA-163680;R-HSA-163765;R-HSA-163767;
length: 852
go: ENSG00000009950;
snps: rs3812316 rs34922362
location: SUBCELLULAR LOCATION: Nucleus.
name:
Carbohydrate-responsive element-binding protein (ChREBP) (Class D basic helix-loop-helix protein 14) (bHLHd14) (MLX interactor) (MLX-interacting protein-like) (WS basic-helix-loop-helix leucine zipper protein) (WS-bHLH) (Williams-Beuren syndrome chromosomal region 14 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; carbohydrate response element binding [GO:0035538]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; transcription factor binding [GO:0008134]; anatomical structure morphogenesis [GO:0009653]; energy homeostasis [GO:0097009]; fatty acid homeostasis [GO:0055089]; glucose homeostasis [GO:0042593]; glucose mediated signaling pathway [GO:0010255]; intracellular signal transduction [GO:0035556]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of oxidative phosphorylation [GO:0090324]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of glycolytic process [GO:0045821]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; triglyceride homeostasis [GO:0070328]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Alpha; IsoId=Q9NP71-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9NP71-2; Sequence=VSP_002171; Name=3; Synonyms=Gamma; IsoId=Q9NP71-3; Sequence=VSP_002170; Name=4; Synonyms=Delta; IsoId=Q9NP71-4; Sequence=VSP_002170, VSP_002171; Name=5; Synonyms=Epsilon; IsoId=Q9NP71-5; Sequence=VSP_002168, VSP_002169; 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=Q9NP71-6; Sequence=VSP_002167, VSP_002172, VSP_002173; 


uniprotID: Q8N4V1
geneSymbol: MMGT1
reactome: R-HSA-5223345;
name: Membrane magnesium transporter 1 (ER membrane protein complex subunit 5) (Transmembrane protein 32)
length: 131
go: ENSG00000169446;
sequence:
MAPSLWKGLVGIGLFALAHAAFSAAQHRSYMRLTEKEDESLPIDIVLQTLLAFAVTCYGIVHIAGEFKDMDATSELKNKTFDTLRNHPSFYVFNHRGRVLFRPSDTANSSNQDALSSNTSLKLRKLESLRR

opentargets:
early endosome [GO:0005769]; early endosome membrane [GO:0031901]; ER membrane protein complex [GO:0072546]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cobalt ion transmembrane transporter activity [GO:0015087]; ferrous iron transmembrane transporter activity [GO:0015093]; inorganic cation transmembrane transporter activity [GO:0022890]; magnesium ion transmembrane transporter activity [GO:0015095]; copper ion transport [GO:0006825]; magnesium ion transport [GO:0015693]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4V1-1; Sequence=Displayed; Name=2; IsoId=Q8N4V1-2; Sequence=VSP_036488; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22119785}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q8K273}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:Q8K273}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8IVH4
geneSymbol: MMAA
reactome: R-HSA-196741;R-HSA-3359475;R-HSA-3359478;R-HSA-71032;
pdb: 2WWW;
name: Methylmalonic aciduria type A protein, mitochondrial (EC 3.6.-.-)
length: 418
go: ENSG00000151611;
drug: DB00115;DB00200;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; cobalamin biosynthetic process [GO:0009236]; cobalamin metabolic process [GO:0009235]

snps:
rs864309726 rs200577967 rs864309729 rs144389160 rs104893849 rs864309730 rs150376474 rs864309731 rs2270655 


uniprotID: P08253
geneSymbol: MMP2
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-381426;R-HSA-3928665;R-HSA-6785807;
pdb: 1CK7;1CXW;1EAK;1GEN;1GXD;1HOV;1J7M;1KS0;1QIB;1RTG;3AYU;
length: 660
go: ENSG00000087245;
drug: DB05387;DB01197;DB04866;DB00786;DB01630;
snps: rs121912953 rs759302357 rs121912955 rs17859943 rs764961297 rs16955280
name:
72 kDa type IV collagenase (EC 3.4.24.24) (72 kDa gelatinase) (Gelatinase A) (Matrix metalloproteinase-2) (MMP-2) (TBE-1) [Cleaved into: PEX]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcomere [GO:0030017]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; blood vessel maturation [GO:0001955]; bone trabecula formation [GO:0060346]; cellular protein metabolic process [GO:0044267]; cellular response to amino acid stimulus [GO:0071230]; collagen catabolic process [GO:0030574]; cytokine-mediated signaling pathway [GO:0019221]; embryo implantation [GO:0007566]; endodermal cell differentiation [GO:0035987]; ephrin receptor signaling pathway [GO:0048013]; extracellular matrix disassembly [GO:0022617]; face morphogenesis [GO:0060325]; intramembranous ossification [GO:0001957]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; proteolysis [GO:0006508]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P08253-1; Sequence=Displayed; Name=2; IsoId=P08253-2; Sequence=VSP_044631; Note=Induced by oxidative stress.; Name=3; IsoId=P08253-3; Sequence=VSP_045704; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Mitochondrion.


uniprotID: P03956
geneSymbol: MMP1
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-210991;R-HSA-381426;R-HSA-6785807;
pdb: 1AYK;1CGE;1CGF;1CGL;1HFC;1SU3;2AYK;2CLT;2J0T;2TCL;3AYK;3SHI;4AUO;4AYK;966C;
length: 469
go: ENSG00000196611;
drug: DB08482;DB00786;DB08403;DB07926;DB07556;DB08491;
snps: rs554499 rs17879973 rs513964 rs12282811 rs17879165 rs17884120
name:
Interstitial collagenase (EC 3.4.24.7) (Fibroblast collagenase) (Matrix metalloproteinase-1) (MMP-1) [Cleaved into: 22 kDa interstitial collagenase; 27 kDa interstitial collagenase]

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; endopeptidase activity [GO:0004175]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; cellular protein metabolic process [GO:0044267]; collagen catabolic process [GO:0030574]; cytokine-mediated signaling pathway [GO:0019221]; extracellular matrix disassembly [GO:0022617]; leukocyte migration [GO:0050900]; positive regulation of protein oligomerization [GO:0032461]; proteolysis [GO:0006508]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305|PubMed:2167156}.


uniprotID: Q9Y5R2
geneSymbol: MMP24
reactome: R-HSA-1592389;
length: 645
go: ENSG00000125966;
drug: DB00786;
snps: rs751887
name:
Matrix metalloproteinase-24 (MMP-24) (EC 3.4.24.-) (Membrane-type matrix metalloproteinase 5) (MT-MMP 5) (MTMMP5) (Membrane-type-5 matrix metalloproteinase) (MT5-MMP) (MT5MMP) [Cleaved into: Processed matrix metalloproteinase-24]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; integral component of plasma membrane [GO:0005887]; trans-Golgi network membrane [GO:0032588]; cadherin binding [GO:0045296]; enzyme activator activity [GO:0008047]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; glial cell differentiation [GO:0010001]; neuronal stem cell population maintenance [GO:0097150]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Matrix metalloproteinase-24: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Recycled back to the plasma membrane through the trans-Golgi network via interaction with APBA3. {ECO:0000250}.; SUBCELLULAR LOCATION: Processed matrix metalloproteinase-24: Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Also shed from cell surface as soluble proteinase, by a proteolytic cleavage. {ECO:0000250}.


uniprotID: Q9NRE1
geneSymbol: MMP26
name: Matrix metalloproteinase-26 (MMP-26) (EC 3.4.24.-) (Endometase) (Matrilysin-2)
length: 261
go: ENSG00000167346;
drug: DB00786;
snps: rs2499953 rs16908114
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
extracellular matrix [GO:0031012]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; collagen catabolic process [GO:0030574]; negative regulation of inflammatory response [GO:0050728]; proteolysis [GO:0006508]


uniprotID: Q9NZM1
geneSymbol: MYOF
pdb: 2DMH;2K2O;
name: Myoferlin (Fer-1-like protein 3)
length: 2061
go: ENSG00000138119;
snps: rs36032890 rs12256834 rs11187393 rs34000599 rs11594445
sequence:

opentargets:
caveola [GO:0005901]; cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; phospholipid binding [GO:0005543]; blood circulation [GO:0008015]; cellular response to heat [GO:0034605]; glycerol metabolic process [GO:0006071]; muscle contraction [GO:0006936]; muscle fiber development [GO:0048747]; myoblast fusion [GO:0007520]; plasma membrane repair [GO:0001778]; regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030947]; T-tubule organization [GO:0033292]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9NZM1-1; Sequence=Displayed; Name=2; IsoId=Q9NZM1-2; Sequence=VSP_001515; Name=3; IsoId=Q9NZM1-3; Sequence=VSP_001516, VSP_001517; Name=4; IsoId=Q9NZM1-4; Sequence=VSP_023797, VSP_023798; Name=5; IsoId=Q9NZM1-5; Sequence=VSP_023802; Name=6; IsoId=Q9NZM1-6; Sequence=VSP_023801; Note=No experimental confirmation available.; Name=7; IsoId=Q9NZM1-7; Sequence=VSP_023800; Note=No experimental confirmation available.; Name=8; IsoId=Q9NZM1-8; Sequence=VSP_023796, VSP_023799; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note=Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures. {ECO:0000250}.


uniprotID: Q5VU43
geneSymbol: PDE4DIP
name: Myomegalin (Cardiomyopathy-associated protein 2) (Phosphodiesterase 4D-interacting protein)
length: 2346
go: ENSG00000178104;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; myofibril [GO:0030016]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; protein-containing complex scaffold activity [GO:0032947]; astral microtubule organization [GO:0030953]; cellular protein-containing complex assembly [GO:0034622]; positive regulation of microtubule nucleation [GO:0090063]; regulation of Golgi organization [GO:1903358]

snps:
rs3010980 rs1664022 rs573724 rs1747958 rs3010980 rs2590120 rs3121544 rs1324366 rs1061308 rs1698681 rs1629011 rs1628172 rs1698624 rs1698647 rs1747958 rs2798901 rs1778159 rs1698605 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=1; IsoId=Q5VU43-1; Sequence=Displayed; Name=2; IsoId=Q5VU43-2; Sequence=VSP_028772, VSP_028779; Name=3; IsoId=Q5VU43-3; Sequence=VSP_028773, VSP_028781, VSP_028782; Note=No experimental confirmation available.; Name=4; IsoId=Q5VU43-4; Sequence=VSP_028783; Name=6; IsoId=Q5VU43-6; Sequence=VSP_028779; Name=7; IsoId=Q5VU43-7; Sequence=VSP_028778, VSP_028780; Name=8; IsoId=Q5VU43-8; Sequence=VSP_028774, VSP_028775; Name=9; IsoId=Q5VU43-9; Sequence=VSP_028774, VSP_028776, VSP_028777; Name=10; IsoId=Q5VU43-10; Sequence=VSP_028776, VSP_028777; Name=11; IsoId=Q5VU43-11; Sequence=VSP_028775; Name=12; IsoId=Q5VU43-12; Sequence=VSP_028773, VSP_028776, VSP_028777; Name=13; Synonyms=Myomegalin variant 8 {ECO:0000303|PubMed:25217626}, MMG {ECO:0000303|PubMed:27666745, ECO:0000303|PubMed:28814570}, MMG8 {ECO:0000303|PubMed:25217626}, Short myomegalin-like EB1 binding protein {ECO:0000303|PubMed:29162697}, SMYLE {ECO:0000303|PubMed:29162697}; IsoId=Q5VU43-13; Sequence=VSP_028772, VSP_059333, VSP_059334; Note=Mutagenesis at position 311-312:LP->AA (loss of MAPRE1- and MAPRE3-binding and loss of association with microtubule ends, no effect on AKAP9- and CDK5RAP2-binding, relocalizes from EB1/MAPRE1 microtubule ends to centrosomal area). {ECO:0000244|PubMed:24275569, ECO:0000269|PubMed:25217626, ECO:0000269|PubMed:28814570, ECO:0000269|PubMed:29162697}; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:27666745}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q9WUJ3}.; SUBCELLULAR LOCATION: Isoform 13: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:29162697}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:29162697}. Golgi apparatus {ECO:0000269|PubMed:25217626}. Note=Associated with the microtubule network at the growing distal tip of microtubules (PubMed:29162697). Targeting to the Golgi apparatus requires AKAP9 (PubMed:25217626). {ECO:0000269|PubMed:25217626, ECO:0000269|PubMed:29162697}.


uniprotID: Q6NSJ0
geneSymbol: MYORG
name: Myogenesis-regulating glycosidase (EC 3.2.1.-) (Uncharacterized family 31 glucosidase KIAA1161)
length: 714
go: ENSG00000164976;
snps: rs2297776 rs4879781 rs12377 rs7852399
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; hydrolase activity, hydrolyzing O-glycosyl compounds [GO:0004553]; carbohydrate metabolic process [GO:0005975]; glycoside catabolic process [GO:0016139]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of protein kinase B signaling [GO:0051897]; skeletal muscle fiber development [GO:0048741]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q69ZQ1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q69ZQ1}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q69ZQ1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q69ZQ1}. Note=Only a minor fraction is present in the peripheral endoplasmic reticulum. {ECO:0000250|UniProtKB:Q69ZQ1}.


uniprotID: P25189
geneSymbol: MPZ
pdb: 1N2P;3OAI;
name: Myelin protein P0 (Myelin peripheral protein) (MPP) (Myelin protein zero)
length: 248
go: ENSG00000158887;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; structural molecule activity [GO:0005198]; cell aggregation [GO:0098743]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; chemical synaptic transmission [GO:0007268]; myelination [GO:0042552]; negative regulation of apoptotic process [GO:0043066]

snps:
rs770546306 rs121913596 rs371856018 rs121913598 rs121913604 rs786204119 rs121913602 rs121913605 rs121913585 rs121913585 rs121913597 rs121913601 rs121913594 rs281865123 rs267607244 rs121913584 rs267607245 rs1060503418 rs121913583 rs121913606 rs121913590 rs121913589 rs121913589 rs121913600 rs1060503420 rs281865126 rs267607241 rs267607242 rs879254038 rs121913595 rs121913595 rs267607243 rs281865127 rs121913599 rs879253858 rs121913587 rs121913588 rs572010627 rs750724650 rs121913603 rs267607246 rs281865128 rs121913586 rs267607247 rs749722729 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25189-1; Sequence=Displayed; Name=L-MPZ; IsoId=P25189-2; Sequence=VSP_045844; Note=Based on a naturally occurring readthrough transcript. Highly antigenic.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18337304}; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform L-MPZ: Myelin membrane {ECO:0000269|PubMed:22457349}; Single-pass type I membrane protein {ECO:0000269|PubMed:22457349}.


uniprotID: Q00872
geneSymbol: MYBPC1
reactome: R-HSA-390522;
pdb: 1X44;2DAV;2YUV;2YUW;2YUX;2YUZ;2YXM;
name: Myosin-binding protein C, slow-type (Slow MyBP-C) (C-protein, skeletal muscle slow isoform)
length: 1141
go: ENSG00000196091;
snps: rs387906657 rs3817552 rs387906658
sequence:

opentargets:
cytosol [GO:0005829]; M band [GO:0031430]; myofibril [GO:0030016]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; muscle alpha-actinin binding [GO:0051371]; structural constituent of muscle [GO:0008307]; titin binding [GO:0031432]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; cell adhesion [GO:0007155]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=Q00872-1; Sequence=Displayed; Name=2; IsoId=Q00872-2; Sequence=VSP_039105, VSP_039106; Name=3; IsoId=Q00872-3; Sequence=VSP_039106; Name=4; IsoId=Q00872-4; Sequence=VSP_039105, VSP_039106, VSP_045241; Note=No experimental confirmation available.; Name=5; IsoId=Q00872-5; Sequence=VSP_046736, VSP_039106, VSP_045241; Name=6; IsoId=Q00872-6; Sequence=VSP_046740; Name=7; IsoId=Q00872-7; Sequence=VSP_046737, VSP_039106, VSP_046739; Name=8; IsoId=Q00872-8; Sequence=VSP_046735, VSP_039106, VSP_045241; Name=9; IsoId=Q00872-9; Sequence=VSP_046738, VSP_039106, VSP_045241; Name=10; IsoId=Q00872-10; Sequence=VSP_039106, VSP_045241; 


uniprotID: Q14324
geneSymbol: MYBPC2
reactome: R-HSA-390522;
pdb: 2E7C;2EDK;2EDN;
name: Myosin-binding protein C, fast-type (Fast MyBP-C) (C-protein, skeletal muscle fast isoform)
length: 1141
go: ENSG00000086967;
snps: rs57092106 rs25669 rs35951152 rs58511181 rs8104931 rs25665 rs25667
sequence:

opentargets:
cytosol [GO:0005829]; M band [GO:0031430]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; muscle alpha-actinin binding [GO:0051371]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; cell adhesion [GO:0007155]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]


uniprotID: Q86VE0
geneSymbol: MYPOP
length: 399
go: ENSG00000176182;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Myb-related transcription factor, partner of profilin (Myb-related protein p42POP) (Partner of profilin)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]


uniprotID: P41227
geneSymbol: NAA10
pdb: 6C95;6C9M;
length: 235
go: ENSG00000102030;
snps: rs387906701 rs863225427
name:
N-alpha-acetyltransferase 10 (EC 2.3.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog A) (hARD1) (NatA catalytic subunit Naa10)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic ribosome [GO:0022626]; intracellular [GO:0005622]; membrane [GO:0016020]; NatA complex [GO:0031415]; nucleolus [GO:0005730]; nucleus [GO:0005634]; N-acetyltransferase activity [GO:0008080]; peptide alpha-N-acetyltransferase activity [GO:0004596]; peptide-glutamate-N-acetyltransferase activity [GO:1990190]; peptide-serine-N-acetyltransferase activity [GO:1990189]; DNA packaging [GO:0006323]; internal protein amino acid acetylation [GO:0006475]; N-terminal peptidyl-glutamic acid acetylation [GO:0018002]; N-terminal peptidyl-serine acetylation [GO:0017198]; N-terminal protein amino acid acetylation [GO:0006474]; negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric [GO:2000719]; protein acetylation [GO:0006473]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41227-1; Sequence=Displayed; Name=2; IsoId=P41227-2; Sequence=VSP_046205, VSP_046206; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12464182, ECO:0000269|PubMed:25489052, ECO:0000269|PubMed:25732826}. Nucleus {ECO:0000269|PubMed:12464182, ECO:0000269|PubMed:15496142, ECO:0000269|PubMed:25732826}. Note=Also present in the free cytosolic and cytoskeleton-bound polysomes. {ECO:0000269|PubMed:15496142}.


uniprotID: Q6N069
geneSymbol: NAA16
length: 864
go: ENSG00000172766;
snps: rs17062054
name:
N-alpha-acetyltransferase 16, NatA auxiliary subunit (NMDA receptor-regulated 1-like protein) (NARG1-like protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; NatA complex [GO:0031415]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; ribosome binding [GO:0043022]; N-terminal peptidyl-methionine acetylation [GO:0017196]; N-terminal protein amino acid acetylation [GO:0006474]; negative regulation of apoptotic process [GO:0043066]; positive regulation of transcription, DNA-templated [GO:0045893]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6N069-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q6N069-2; Sequence=VSP_012568, VSP_012569; Note=No experimental confirmation available.; Name=3; IsoId=Q6N069-3; Sequence=VSP_012566, VSP_012567; Note=No experimental confirmation available.; Name=4; Synonyms=Short; IsoId=Q6N069-4; Sequence=VSP_012564, VSP_012565; Note=No experimental confirmation available.; Name=5; IsoId=Q6N069-5; Sequence=VSP_012562, VSP_012563; Note=No experimental confirmation available.; 


uniprotID: P61599
geneSymbol: NAA20
length: 178
go: ENSG00000173418;
name:
N-alpha-acetyltransferase 20 (EC 2.3.1.254) (Methionine N-acetyltransferase) (N-acetyltransferase 5) (N-terminal acetyltransferase B complex catalytic subunit NAA20) (N-terminal acetyltransferase B complex catalytic subunit NAT5) (NatB complex subunit NAT5) (NatB catalytic subunit)

sequence:
MTTLRAFTCDDLFRFNNINLDPLTETYGIPFYLQYLAHWPEYFIVAEAPGGELMGYIMGKAEGSVAREEWHGHVTALSVAPEFRRLGLAAKLMELLEEISERKGGFFVDLFVRVSNQVAVNMYKQLGYSVYRTVIEYYSASNGEPDEDAYDMRKALSRDTEKKSIIPLPHPVRPEDIE

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; NatB complex [GO:0031416]; nucleus [GO:0005634]; peptide alpha-N-acetyltransferase activity [GO:0004596]; N-terminal peptidyl-methionine acetylation [GO:0017196]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61599-1; Sequence=Displayed; Name=2; IsoId=P61599-2; Sequence=VSP_045644; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18570629, ECO:0000269|PubMed:25732826}. Nucleus {ECO:0000269|PubMed:18570629, ECO:0000269|PubMed:25732826}.


uniprotID: Q14CX7
geneSymbol: NAA25
length: 972
go: ENSG00000111300;
snps: rs16941860 rs12231744 rs12298022
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18570629}.
name:
N-alpha-acetyltransferase 25, NatB auxiliary subunit (Mitochondrial distribution and morphology protein 20) (N-terminal acetyltransferase B complex subunit MDM20) (NatB complex subunit MDM20) (N-terminal acetyltransferase B complex subunit NAA25) (p120)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; NatB complex [GO:0031416]; N-terminal peptidyl-methionine acetylation [GO:0017196]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14CX7-1; Sequence=Displayed; Name=2; IsoId=Q14CX7-2; Sequence=VSP_026629, VSP_026630; Note=No experimental confirmation available.; 


uniprotID: Q5VZE5
geneSymbol: NAA35
reactome: R-HSA-6811440;
length: 725
go: ENSG00000135040;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19398576}.
name:
N-alpha-acetyltransferase 35, NatC auxiliary subunit (Embryonic growth-associated protein homolog) (Protein MAK10 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; NatC complex [GO:0031417]; peptide alpha-N-acetyltransferase activity [GO:0004596]; N-terminal protein amino acid acetylation [GO:0006474]; negative regulation of apoptotic process [GO:0043066]; smooth muscle cell proliferation [GO:0048659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZE5-1; Sequence=Displayed; Name=2; IsoId=Q5VZE5-2; Sequence=VSP_056098, VSP_056099; Note=No experimental confirmation available.; 


uniprotID: Q86UY6
geneSymbol: NAA40
pdb: 4U9V;4U9W;
length: 237
go: ENSG00000110583;
name:
N-alpha-acetyltransferase 40 (EC 2.3.1.257) (N-acetyltransferase 11) (N-alpha-acetyltransferase D) (NatD) (hNatD) (Protein acetyltransferase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; H2A histone acetyltransferase activity [GO:0043998]; H4 histone acetyltransferase activity [GO:0010485]; peptide-serine-N-acetyltransferase activity [GO:1990189]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; lipid metabolic process [GO:0006629]; N-terminal protein amino acid acetylation [GO:0006474]; regulation of chromatin silencing at rDNA [GO:0061187]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86UY6-1; Sequence=Displayed; Name=2; IsoId=Q86UY6-3; Sequence=VSP_054274; Note=No experimental confirmation available.; Name=3; IsoId=Q86UY6-4; Sequence=VSP_054273; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25732826}. Nucleus {ECO:0000269|PubMed:25732826}.


uniprotID: Q9GZZ1
geneSymbol: NAA50
pdb: 2OB0;2PSW;3TFY;4X5K;
length: 169
go: ENSG00000121579;
name:
N-alpha-acetyltransferase 50 (hNaa50p) (EC 2.3.1.258) (N-acetyltransferase 13) (N-acetyltransferase 5) (hNAT5) (N-acetyltransferase san homolog) (hSAN) (N-epsilon-acetyltransferase 50) (EC 2.3.1.-) (NatE catalytic subunit)

sequence:
MKGSRIELGDVTPHNIKQLKRLNQVIFPVSYNDKFYKDVLEVGELAKLAYFNDIAVGAVCCRVDHSQNQKRLYIMTLGCLAPYRRLGIGTKMLNHVLNICEKDGTFDNIYLHVQISNESAIDFYRKFGFEIIETKKNYYKRIEPADAHVLQKNLKVPSGQNADVQKTDN

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; NatA complex [GO:0031415]; nucleus [GO:0005634]; H4 histone acetyltransferase activity [GO:0010485]; N-acetyltransferase activity [GO:0008080]; peptide alpha-N-acetyltransferase activity [GO:0004596]; peptidyl-lysine acetyltransferase activity [GO:0052858]; establishment of mitotic sister chromatid cohesion [GO:0034087]; histone acetylation [GO:0016573]; mitotic sister chromatid cohesion [GO:0007064]; mitotic sister chromatid cohesion, centromeric [GO:0071962]; N-terminal protein amino acid acetylation [GO:0006474]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZZ1-1; Sequence=Displayed; Name=2; IsoId=Q9GZZ1-2; Sequence=VSP_024747; Note=No experimental confirmation available. {ECO:0000244|PubMed:19608861}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16507339, ECO:0000269|PubMed:17502424, ECO:0000269|PubMed:25732826, ECO:0000269|PubMed:27422821}. Nucleus {ECO:0000269|PubMed:25732826}. Note=Localizes to the cytoplasm in interphase cells (PubMed:17502424). {ECO:0000269|PubMed:17502424}.


uniprotID: Q13506
geneSymbol: NAB1
pdb: 2YUF;
name: NGFI-A-binding protein 1 (EGR-1-binding protein 1) (Transcriptional regulatory protein p54)
length: 487
go: ENSG00000138386;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor binding [GO:0008134]; endochondral ossification [GO:0001958]; myelination [GO:0042552]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of epidermis development [GO:0045682]; regulation of transcription, DNA-templated [GO:0006355]; Schwann cell differentiation [GO:0014037]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q13506-1; Sequence=Displayed; Name=Short; IsoId=Q13506-2; Sequence=VSP_003384; 


uniprotID: P32418
geneSymbol: SLC8A1
reactome: R-HSA-418359;R-HSA-425561;R-HSA-5578775;
name: Sodium/calcium exchanger 1 (Na(+)/Ca(2+)-exchange protein 1) (Solute carrier family 8 member 1)
length: 973
go: ENSG00000183023;
drug: DB00132;DB00159;
snps: rs5557
sequence:

opentargets:
dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; intercalated disc [GO:0014704]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; Z disc [GO:0030018]; ankyrin binding [GO:0030506]; calcium ion binding [GO:0005509]; calcium:sodium antiporter activity [GO:0005432]; calmodulin binding [GO:0005516]; cytoskeletal protein binding [GO:0008092]; ion antiporter activity involved in regulation of postsynaptic membrane potential [GO:0099580]; ion channel binding [GO:0044325]; calcium ion export [GO:1901660]; calcium ion homeostasis [GO:0055074]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport into cytosol [GO:0060402]; cardiac muscle cell development [GO:0055013]; cardiac muscle contraction [GO:0060048]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular response to caffeine [GO:0071313]; cellular response to cAMP [GO:0071320]; cellular response to hypoxia [GO:0071456]; cellular response to reactive oxygen species [GO:0034614]; cellular sodium ion homeostasis [GO:0006883]; cytosolic calcium ion transport [GO:0060401]; ion transport [GO:0006811]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; muscle contraction [GO:0006936]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; positive regulation of bone mineralization [GO:0030501]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of the force of heart contraction [GO:0098735]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling [GO:0010649]; regulation of heart rate [GO:0002027]; regulation of sodium ion transport [GO:0002028]; regulation of the force of heart contraction [GO:0002026]; relaxation of cardiac muscle [GO:0055119]; relaxation of smooth muscle [GO:0044557]; response to ATP [GO:0033198]; response to glucose [GO:0009749]; response to hydrogen peroxide [GO:0042542]; response to immobilization stress [GO:0035902]; response to muscle stretch [GO:0035994]; sodium ion export across plasma membrane [GO:0036376]; sodium ion import across plasma membrane [GO:0098719]; sodium ion transmembrane transport [GO:0035725]; telencephalon development [GO:0021537]; vascular smooth muscle contraction [GO:0014829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=NaCa1, NCX1.1; IsoId=P32418-1; Sequence=Displayed; Name=3; Synonyms=NaCa3, NCX1.3; IsoId=P32418-2; Sequence=VSP_003397, VSP_003398, VSP_003400; Name=7; Synonyms=NaCa7, NCX1.7; IsoId=P32418-3; Sequence=VSP_003397, VSP_003398, VSP_003399; Name=10; Synonyms=NaCa10, NCX1.10; IsoId=P32418-4; Sequence=VSP_003397, VSP_003398; Name=5; IsoId=P32418-5; Sequence=VSP_003399; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11241183, ECO:0000269|PubMed:1374913, ECO:0000269|PubMed:1476165}; Multi-pass membrane protein {ECO:0000269|PubMed:23376057}.


uniprotID: Q9UPR5
geneSymbol: SLC8A2
reactome: R-HSA-418359;R-HSA-425561;R-HSA-5578775;
name: Sodium/calcium exchanger 2 (Na(+)/Ca(2+)-exchange protein 2) (Solute carrier family 8 member 2)
length: 921
go: ENSG00000118160;
snps: rs201723439 rs17759929
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; dendritic spine [GO:0043197]; integral component of plasma membrane [GO:0005887]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; calcium:sodium antiporter activity [GO:0005432]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; calcium ion transmembrane transport [GO:0070588]; cell communication [GO:0007154]; cellular calcium ion homeostasis [GO:0006874]; ion transport [GO:0006811]; learning [GO:0007612]; long-term synaptic potentiation [GO:0060291]; memory [GO:0007613]; regulation of cardiac conduction [GO:1903779]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; sodium ion transmembrane transport [GO:0035725]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P48768}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P48768}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q8K596}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8K596}. Perikaryon {ECO:0000250|UniProtKB:P48768}. Cell projection, dendrite {ECO:0000250|UniProtKB:P48768}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P48768}.


uniprotID: Q9H009
geneSymbol: NACA2
length: 215
go: ENSG00000253506;
snps: rs17531723
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Nascent polypeptide-associated complex subunit alpha-2 (Alpha-NAC-like) (Hom s 2.01) (Nascent polypeptide-associated complex subunit alpha-like) (NAC-alpha-like)

sequence:

opentargets:
nascent polypeptide-associated complex [GO:0005854]; nucleus [GO:0005634]; protein transport [GO:0015031]


uniprotID: O15069
geneSymbol: NACAD
name: NAC-alpha domain-containing protein 1
length: 1562
go: ENSG00000136274;
snps: rs3735495 rs3735494 rs7777835 rs10243185 rs3735493
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
nascent polypeptide-associated complex [GO:0005854]; nucleus [GO:0005634]; protein transport [GO:0015031]


uniprotID: Q13765
geneSymbol: NACA
pdb: 3LKX;3MCB;3MCE;
name: Nascent polypeptide-associated complex subunit alpha (NAC-alpha) (Alpha-NAC) (allergen Hom s 2)
length: 215
go: ENSG00000196531;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nascent polypeptide-associated complex [GO:0005854]; nucleus [GO:0005634]; DNA binding [GO:0003677]; transcription coactivator activity [GO:0003713]; cardiac ventricle development [GO:0003231]; heart trabecula morphogenesis [GO:0061384]; negative regulation of striated muscle cell apoptotic process [GO:0010664]; negative regulation of transcription from RNA polymerase II promoter involved in heart development [GO:1901227]; positive regulation of cell proliferation involved in heart morphogenesis [GO:2000138]; positive regulation of skeletal muscle tissue growth [GO:0048633]; positive regulation of transcription from RNA polymerase II promoter involved in heart development [GO:1901228]; protein transport [GO:0015031]; regulation of skeletal muscle fiber development [GO:0048742]; skeletal muscle tissue regeneration [GO:0043403]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13765-1; Sequence=Displayed; Name=skNAC-2; Synonyms=2; IsoId=E9PAV3-2; Sequence=External; Note=No experimental confirmation available.; Name=skNAC; IsoId=E9PAV3-1; Sequence=External; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=The heterodimer is located mainly in the cytosol, and the homodimer in the nucleus.


uniprotID: Q96AX9
geneSymbol: MIB2
reactome: R-HSA-2122948;R-HSA-2644606;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-9013507;R-HSA-983168;
length: 1013
go: ENSG00000197530;
snps: rs7418389 rs12755088
name:
E3 ubiquitin-protein ligase MIB2 (EC 2.3.2.27) (Mind bomb homolog 2) (Novel zinc finger protein) (Novelzin) (Putative NF-kappa-B-activating protein 002N) (RING-type E3 ubiquitin transferase MIB2) (Skeletrophin) (Zinc finger ZZ type with ankyrin repeat domain protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; ubiquitin ligase complex [GO:0000151]; actin binding [GO:0003779]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; Notch signaling pathway [GO:0007219]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=14;  Name=1; IsoId=Q96AX9-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q96AX9-2; Sequence=VSP_014392; Name=3; Synonyms=Gamma; IsoId=Q96AX9-3; Sequence=VSP_014395; Name=4; Synonyms=Beta; IsoId=Q96AX9-4; Sequence=VSP_014393; Name=5; IsoId=Q96AX9-5; Sequence=VSP_014396; Note=No experimental confirmation available.; Name=10; IsoId=Q96AX9-10; Sequence=VSP_035509, VSP_014393, VSP_045186; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; Name=7; IsoId=Q96AX9-7; Sequence=VSP_035508; Name=8; IsoId=Q96AX9-8; Sequence=VSP_035509, VSP_035511, VSP_035512; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; Name=9; IsoId=Q96AX9-9; Sequence=VSP_035510; Name=6; IsoId=Q96AX9-6; Sequence=VSP_014394; Note=No experimental confirmation available.; Name=11; IsoId=Q96AX9-11; Sequence=VSP_046405, VSP_046406; Note=No experimental confirmation available.; Name=12; IsoId=Q96AX9-12; Sequence=VSP_046405, VSP_014393; Note=No experimental confirmation available.; Name=13; IsoId=Q96AX9-13; Sequence=VSP_046405, VSP_014395; Note=No experimental confirmation available.; Name=14; IsoId=Q96AX9-14; Sequence=VSP_046405; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14507647}. Endosome {ECO:0000269|PubMed:14507647}. Note=Colocalizes with endosomal compartments.


uniprotID: Q9BUR5
geneSymbol: APOO
reactome: R-HSA-8949613;
name: MICOS complex subunit MIC26 (Apolipoprotein O) (MICOS complex subunit MIC23) (Protein FAM121B)
length: 198
go: ENSG00000184831;
sequence:
MFKVIQRSVGPASLSLLTFKVYAAPKKDSPPKNSVKVDELSLYSVPEGQSKYVEEARSQLEESISQLRHYCEPYTTWCQETYSQTKPKMQSLVQWGLDSYDYLQNAPPGFFPRLGVIGFAGLIGLLLARGSKIKKLVYPPGFMGLAASLYYPQQAIVFAQVSGERLYDWGLRGYIVIEDLWKENFQKPGNVKNSPGTK

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; high-density lipoprotein particle [GO:0034364]; integral component of mitochondrial inner membrane [GO:0031305]; low-density lipoprotein particle [GO:0034362]; MICOS complex [GO:0061617]; mitochondrion [GO:0005739]; very-low-density lipoprotein particle [GO:0034361]; cristae formation [GO:0042407]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUR5-1; Sequence=Displayed; Name=2; IsoId=Q9BUR5-2; Sequence=VSP_023333; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:25764979}; Single-pass membrane protein {ECO:0000255}. Secreted {ECO:0000269|PubMed:16956892, ECO:0000269|PubMed:25764979}. Mitochondrion {ECO:0000269|PubMed:25781180}. Golgi apparatus membrane {ECO:0000269|PubMed:25764979}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:25764979}. Note=Exists in three distinct forms: a glycosylated and secreted form, an ER/Golgi-resident form and a non-glycosylated mitochondrial form. {ECO:0000269|PubMed:25764979}.


uniprotID: Q8TDZ2
geneSymbol: MICAL1
reactome: R-HSA-983231;
pdb: 1WYL;2CO8;2DK9;5LE0;5LPN;
length: 1067
go: ENSG00000135596;
name:
[F-actin]-monooxygenase MICAL1 (EC 1.14.13.225) (Molecule interacting with CasL protein 1) (MICAL-1) (NEDD9-interacting protein with calponin homology and LIM domains)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; hippocampal mossy fiber expansion [GO:1990026]; intercellular bridge [GO:0045171]; intermediate filament [GO:0005882]; midbody [GO:0030496]; actin binding [GO:0003779]; FAD binding [GO:0071949]; metal ion binding [GO:0046872]; monooxygenase activity [GO:0004497]; NAD(P)H oxidase activity [GO:0016174]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; protein kinase binding [GO:0019901]; Rab GTPase binding [GO:0017137]; SH3 domain binding [GO:0017124]; actin filament depolymerization [GO:0030042]; blood coagulation [GO:0007596]; cytoskeleton organization [GO:0007010]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of protein phosphorylation [GO:0001933]; oxidation-reduction process [GO:0055114]; regulation of regulated secretory pathway [GO:1903305]; signal transduction [GO:0007165]; sulfur oxidation [GO:0019417]

snps:
rs4946977 rs4946977 rs34726911 rs34699467 rs17854785 rs17850590 rs9320288 rs35260632 rs59056467 rs59056467 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=MICAL-1a; IsoId=Q8TDZ2-1; Sequence=Displayed; Name=2; Synonyms=MICAL-1b; IsoId=Q8TDZ2-2; Sequence=VSP_009639; Name=3; IsoId=Q8TDZ2-3; Sequence=VSP_009637, VSP_009638; Note=No experimental confirmation available.; Name=4; IsoId=Q8TDZ2-4; Sequence=VSP_042590; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Midbody {ECO:0000269|PubMed:28230050}. Note=Accumulates transiently at the abscission site before abscission occurs. {ECO:0000269|PubMed:28230050}.


uniprotID: O94851
geneSymbol: MICAL2
pdb: 2E9K;
length: 1124
go: ENSG00000133816;
snps: rs2706656 rs2306727 rs3794084 rs2270515 rs1027335 rs35518829
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24440334}.
name:
[F-actin]-monooxygenase MICAL2 (EC 1.14.13.225) (Molecule interacting with CasL protein 2) (MICAL-2)

sequence:

opentargets:
nucleus [GO:0005634]; actin binding [GO:0003779]; FAD binding [GO:0071949]; metal ion binding [GO:0046872]; NAD(P)H oxidase activity [GO:0016174]; NADPH:sulfur oxidoreductase activity [GO:0043914]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; actin filament depolymerization [GO:0030042]; cytoskeleton organization [GO:0007010]; heart development [GO:0007507]; heart looping [GO:0001947]; oxidation-reduction process [GO:0055114]; positive regulation of transcription via serum response element binding [GO:0010735]; sulfur oxidation [GO:0019417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O94851-1; Sequence=Displayed; Name=2; IsoId=O94851-2; Sequence=VSP_009859, VSP_009860, VSP_009861; Name=3; IsoId=O94851-3; Sequence=VSP_042595; Name=4; IsoId=O94851-4; Sequence=VSP_042594, VSP_042596, VSP_009861; Name=5; IsoId=O94851-5; Sequence=VSP_042594; Name=6; IsoId=O94851-6; Sequence=VSP_042593, VSP_009861; 


uniprotID: Q504T8
geneSymbol: MIDN
name: Midnolin (Midbrain nucleolar protein)
length: 468
go: ENSG00000167470;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; kinase binding [GO:0019900]; negative regulation of glucokinase activity [GO:0033132]; negative regulation of insulin secretion [GO:0046676]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250|UniProtKB:Q3TPJ7}. Nucleus {ECO:0000269|PubMed:24187134}. Cytoplasm, cytosol {ECO:0000269|PubMed:24187134}. Note=Detected in the nucleus and nucleolus with no expression in the cytoplasm (By similarity). However, a later study finds expression in the nucleus and cytoplasm with no expression in the nucleolus (PubMed:24187134). {ECO:0000250|UniProtKB:Q3TPJ7, ECO:0000269|PubMed:24187134}.


uniprotID: Q7Z3K6
geneSymbol: MIER3
name: Mesoderm induction early response protein 3 (Mi-er3)
length: 550
go: ENSG00000155545;
snps: rs17854108 rs13177917 rs13181823 rs36017815
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; RNA polymerase II repressing transcription factor binding [GO:0001103]; transcription corepressor activity [GO:0003714]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z3K6-1; Sequence=Displayed; Name=2; IsoId=Q7Z3K6-2; Sequence=VSP_030100; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z3K6-3; Sequence=VSP_030103; Name=4; IsoId=Q7Z3K6-4; Sequence=VSP_030099; Name=5; IsoId=Q7Z3K6-5; Sequence=VSP_030101, VSP_030102; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00512, ECO:0000255|PROSITE-ProRule:PRU00624}.


uniprotID: Q86XE3
geneSymbol: MICU3
reactome: R-HSA-8949215;R-HSA-8949664;
name: Calcium uptake protein 3, mitochondrial (EF-hand domain-containing family member A2)
length: 530
go: ENSG00000155970;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; calcium ion binding [GO:0005509]; mitochondrial calcium ion transmembrane transport [GO:0006851]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q8N4C8
geneSymbol: MINK1
reactome: R-HSA-2559580;
length: 1332
go: ENSG00000141503;
snps: rs56131206 rs11556634 rs11556635 rs2302319
name:
Misshapen-like kinase 1 (EC 2.7.11.1) (GCK family kinase MiNK) (MAPK/ERK kinase kinase kinase 6) (MEK kinase kinase 6) (MEKKK 6) (Misshapen/NIK-related kinase) (Mitogen-activated protein kinase kinase kinase kinase 6)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton reorganization [GO:0031532]; activation of protein kinase activity [GO:0032147]; chemical synaptic transmission [GO:0007268]; dendrite morphogenesis [GO:0048813]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; multicellular organism development [GO:0007275]; neuron projection morphogenesis [GO:0048812]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of AMPA receptor activity [GO:2000311]; regulation of cell migration [GO:0030334]; regulation of cell-cell adhesion [GO:0022407]; regulation of cell-matrix adhesion [GO:0001952]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=3 {ECO:0000269|PubMed:10708748}; Synonyms=MINK-alpha; IsoId=Q8N4C8-1; Sequence=Displayed; Name=1 {ECO:0000269|PubMed:10708748}; Synonyms=MiNK-1, MINK-delta; IsoId=Q8N4C8-2; Sequence=VSP_007059; Name=2 {ECO:0000269|PubMed:10708748}; Synonyms=MiNK-2, MINK-gamma; IsoId=Q8N4C8-3; Sequence=VSP_007059, VSP_007060; Name=4; Synonyms=MINK-beta; IsoId=Q8N4C8-4; Sequence=VSP_041871; Name=5; Synonyms=MINK-eta; IsoId=Q8N4C8-5; Sequence=VSP_041871, VSP_007059; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15469942, ECO:0000269|PubMed:18930710}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 4: Golgi apparatus.


uniprotID: Q8N5J2
geneSymbol: MINDY1
pdb: 5JKN;5JQS;5MN9;
length: 469
go: ENSG00000143409;
snps: rs2925741
name:
Ubiquitin carboxyl-terminal hydrolase MINDY-1 (EC 3.4.19.12) (Deubiquitinating enzyme MINDY-1) (Protein FAM63A)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type carboxypeptidase activity [GO:0016807]; K48-linked polyubiquitin modification-dependent protein binding [GO:0036435]; Lys48-specific deubiquitinase activity [GO:1990380]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein K48-linked deubiquitination [GO:0071108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N5J2-1; Sequence=Displayed; Name=2; IsoId=Q8N5J2-2; Sequence=VSP_034715; Name=3; IsoId=Q8N5J2-3; Sequence=VSP_037077; Name=4; IsoId=Q8N5J2-4; Sequence=VSP_037076; 


uniprotID: Q9H8M7
geneSymbol: MINDY3
length: 445
go: ENSG00000148481;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12054670}.
name:
Ubiquitin carboxyl-terminal hydrolase MINDY-3 (EC 3.4.19.12) (Dermal papilla-derived protein 5) (Deubiquitinating enzyme MINDY-3) (Protein CARP)

sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; cysteine-type carboxypeptidase activity [GO:0016807]; Lys48-specific deubiquitinase activity [GO:1990380]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; apoptotic process [GO:0006915]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8M7-1; Sequence=Displayed; Name=2; IsoId=Q9H8M7-2; Sequence=VSP_031039; 


uniprotID: Q9H081
geneSymbol: MIS12
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 5LSJ;5LSK;
name: Protein MIS12 homolog
length: 205
go: ENSG00000167842;
snps: rs16954781
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; MIS12/MIND type complex [GO:0000444]; nuclear MIS12/MIND complex [GO:0000818]; nucleus [GO:0005634]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; kinetochore assembly [GO:0051382]; mitotic sister chromatid segregation [GO:0000070]; protein localization to kinetochore [GO:0034501]

location:
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:12515822, ECO:0000269|PubMed:15502821}. Note=Associated with the kinetochore. {ECO:0000269|PubMed:12515822, ECO:0000269|PubMed:15502821}.


uniprotID: P03971
geneSymbol: AMH
reactome: R-HSA-201451;
length: 560
go: ENSG00000104899;
location: SUBCELLULAR LOCATION: Secreted.
name:
Muellerian-inhibiting factor (Anti-Muellerian hormone) (AMH) (Muellerian-inhibiting substance) (MIS)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; signaling receptor binding [GO:0005102]; transforming growth factor beta receptor binding [GO:0005160]; aging [GO:0007568]; BMP signaling pathway [GO:0030509]; cell-cell signaling [GO:0007267]; gonadal mesoderm development [GO:0007506]; Mullerian duct regression [GO:0001880]; negative regulation of ovarian follicle development [GO:2000355]; positive regulation of gene expression [GO:0010628]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; preantral ovarian follicle growth [GO:0001546]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; sex determination [GO:0007530]; sex differentiation [GO:0007548]; urogenital system development [GO:0001655]

snps:
rs149082963 rs10407022 rs569914235 rs371874189 rs200523942 rs777003373 rs140765565 rs1358787117 rs138571039 rs10417628 


uniprotID: Q13434
geneSymbol: MKRN4P
length: 485
name:
Putative E3 ubiquitin-protein ligase makorin-4 (EC 2.3.2.27) (Makorin RING finger protein pseudogene 4) (Makorin RING finger protein pseudogene 5) (RING finger protein 64) (RING-type E3 ubiquitin transferase makorin-4) (Zinc finger protein 127-Xp) (ZNF127-Xp) (Zinc finger protein 127-like 1)

sequence:

opentargets:
metal ion binding [GO:0046872]; transferase activity [GO:0016740]; protein ubiquitination [GO:0016567]


uniprotID: Q6NVV0
geneSymbol: MKRN9P
sequence: MLLAAVGDDELTDSEDESDLFHEELEDFYDLDL
length: 33
name:
Putative makorin-5 (Makorin ring finger protein pseudogene 6) (Makorin ring finger protein pseudogene 9) (Putative RING finger protein 65)


uniprotID: H3BPM6
geneSymbol: MKRN2OS
name: MKRN2 opposite strand protein (MKRN2 antisense RNA 1) (MKRN2 antisense gene protein 1)
length: 223
go: ENSG00000225526;
sequence:


uniprotID: Q9UL63
geneSymbol: MKLN1
name: Muskelin
length: 735
go: ENSG00000128585;
snps: rs323844
sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ruffle [GO:0001726]; synapse [GO:0045202]; ubiquitin ligase complex [GO:0000151]; protein homodimerization activity [GO:0042803]; actin cytoskeleton reorganization [GO:0031532]; cell-matrix adhesion [GO:0007160]; regulation of cell shape [GO:0008360]; regulation of receptor internalization [GO:0002090]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL63-1; Sequence=Displayed; Name=2; IsoId=Q9UL63-2; Sequence=VSP_021852; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17467196}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:O89050}. Nucleus, nucleoplasm {ECO:0000250|UniProtKB:O89050}. Cell projection, ruffle {ECO:0000250|UniProtKB:O89050}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:O89050}. Cell junction, synapse {ECO:0000250|UniProtKB:O89050}. Note=Colocalizes with GABRA1 at synapses and in post-synaptic regions. Colocalizes with actin fibers in the cell cortex. {ECO:0000250|UniProtKB:O89050}.


uniprotID: P21741
geneSymbol: MDK
reactome: R-HSA-2979096;
pdb: 1MKC;1MKN;
length: 143
go: ENSG00000110492;
location: SUBCELLULAR LOCATION: Secreted.
name:
Midkine (MK) (Amphiregulin-associated protein) (ARAP) (Midgestation and kidney protein) (Neurite outgrowth-promoting factor 2) (Neurite outgrowth-promoting protein)

sequence:
MQHRGFLLLTLLALLALTSAVAKKKDKVKKGGPGSECAEWAWGPCTPSSKDCGVGFREGTCGAQTQRIRCRVPCNWKKEFGADCKYKFENWGACDGGTGTKVRQGTLKKARYNAQCQETIRVTKPCTPKTKAKAKAKKGKGKD

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; adrenal gland development [GO:0030325]; behavioral fear response [GO:0001662]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cerebellar granular layer development [GO:0021681]; cerebral cortex development [GO:0021987]; defecation [GO:0030421]; dentate gyrus development [GO:0021542]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]; Notch signaling pathway [GO:0007219]; positive regulation of cell division [GO:0051781]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of behavior [GO:0050795]; response to drug [GO:0042493]; response to glucocorticoid [GO:0051384]; response to wounding [GO:0009611]; short-term memory [GO:0007614]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21741-1; Sequence=Displayed; Name=2; Synonyms=tMKA; IsoId=P21741-2; Sequence=VSP_047452; Note=Found in cancer tissues with expression in the tumor bodies and surrounding normal cells.; 


uniprotID: Q9HAP2
geneSymbol: MLXIP
length: 919
go: ENSG00000175727;
snps: rs7978353 rs34702867
name:
MLX-interacting protein (Class E basic helix-loop-helix protein 36) (bHLHe36) (Transcriptional activator MondoA)

sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter [GO:1900402]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:11073985}; IsoId=Q9HAP2-1; Sequence=Displayed; Name=2 {ECO:0000269|Ref.2}; IsoId=Q9HAP2-2; Sequence=VSP_052499; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q9HAP2-3; Sequence=VSP_052501, VSP_052502; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|Ref.2}; IsoId=Q9HAP2-4; Sequence=VSP_052499, VSP_052503, VSP_052504; Name=5 {ECO:0000269|PubMed:15489334}; IsoId=Q9HAP2-5; Sequence=VSP_052499, VSP_052500, VSP_052501, VSP_052502; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12446771, ECO:0000269|PubMed:16782875}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:12446771, ECO:0000269|PubMed:16782875}. Mitochondrion outer membrane {ECO:0000269|PubMed:12446771, ECO:0000269|PubMed:16782875}. Note=Predominantly cytoplasmic but shuttles between cytoplasm and nucleus when associated with MLX. Also associates with the outer mitochondrial membrane and may shuttle between the outer mitochondrial membrane and the nucleus. {ECO:0000250|UniProtKB:Q2VPU4, ECO:0000269|PubMed:12446771, ECO:0000269|PubMed:16782875}.


uniprotID: Q495T6
geneSymbol: MMEL1
length: 779
go: ENSG00000142606;
snps: rs3748816
name:
Membrane metallo-endopeptidase-like 1 (EC 3.4.24.11) (Membrane metallo-endopeptidase-like 2) (NEP2(m)) (Neprilysin II) (NEPII) (Neprilysin-2) (NEP2) (NL2) [Cleaved into: Membrane metallo-endopeptidase-like 1, soluble form (Neprilysin-2 secreted) (NEP2(s))]

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q495T6-1; Sequence=Displayed; Name=2; IsoId=Q495T6-2; Sequence=VSP_020288, VSP_020289; Note=No experimental confirmation available.; Name=3; IsoId=Q495T6-3; Sequence=VSP_020287; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein. Secreted. Note=A secreted form produced by proteolytic cleavage also exists. {ECO:0000250}.


uniprotID: Q96EY8
geneSymbol: MMAB
reactome: R-HSA-196741;R-HSA-3359471;
pdb: 2IDX;
length: 250
go: ENSG00000139428;
drug: DB00115;DB00200;
snps: rs10774775 rs36013132 rs864309509 rs35648932 rs28941784 rs376128990 rs749758687 rs9593
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Corrinoid adenosyltransferase (EC 2.5.1.17) (Cob(II)alamin adenosyltransferase) (Cob(II)yrinic acid a,c-diamide adenosyltransferase) (Cobinamide/cobalamin adenosyltransferase) (Methylmalonic aciduria type B protein)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; ATP binding [GO:0005524]; cob(I)yrinic acid a,c-diamide adenosyltransferase activity [GO:0008817]; cobalamin binding [GO:0031419]; cobalamin biosynthetic process [GO:0009236]; cobalamin metabolic process [GO:0009235]


uniprotID: P50281
geneSymbol: MMP14
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;
pdb: 1BQQ;1BUV;2MQS;3C7X;3MA2;3X23;4P3C;4P3D;4QXU;5H0U;
length: 582
go: ENSG00000157227;
drug: DB00786;
snps: rs17882219 rs17884647 rs1042703 rs587777039 rs17884841 rs1042704 rs17884719 rs17880989 rs3751489
name:
Matrix metalloproteinase-14 (MMP-14) (EC 3.4.24.80) (MMP-X1) (Membrane-type matrix metalloproteinase 1) (MT-MMP 1) (MTMMP1) (Membrane-type-1 matrix metalloproteinase) (MT1-MMP) (MT1MMP)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; intermediate filament cytoskeleton [GO:0045111]; macropinosome [GO:0044354]; melanosome [GO:0042470]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; endopeptidase activity [GO:0004175]; integrin binding [GO:0005178]; metalloaminopeptidase activity [GO:0070006]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; astrocyte cell migration [GO:0043615]; branching morphogenesis of an epithelial tube [GO:0048754]; cell motility [GO:0048870]; chondrocyte proliferation [GO:0035988]; collagen catabolic process [GO:0030574]; craniofacial suture morphogenesis [GO:0097094]; embryonic cranial skeleton morphogenesis [GO:0048701]; endochondral ossification [GO:0001958]; endodermal cell differentiation [GO:0035987]; endothelial cell proliferation [GO:0001935]; extracellular matrix disassembly [GO:0022617]; head development [GO:0060322]; lung development [GO:0030324]; male gonad development [GO:0008584]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of Notch signaling pathway [GO:0045746]; ovarian follicle development [GO:0001541]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of macrophage migration [GO:1905523]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of protein processing [GO:0010954]; protein processing [GO:0016485]; proteolysis [GO:0006508]; regulation of protein localization to plasma membrane [GO:1903076]; response to estrogen [GO:0043627]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; response to odorant [GO:1990834]; response to organic cyclic compound [GO:0014070]; response to oxidative stress [GO:0006979]; tissue remodeling [GO:0048771]; zymogen activation [GO:0031638]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Melanosome. Cytoplasm. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Forms a complex with BST2 and localizes to the cytoplasm.


uniprotID: Q29980
geneSymbol: MICB
reactome: R-HSA-198933;
pdb: 1JE6;2WY3;
name: MHC class I polypeptide-related sequence B (MIC-B)
length: 383
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; natural killer cell lectin-like receptor binding [GO:0046703]; cytolysis [GO:0019835]; gamma-delta T cell activation [GO:0046629]; immune response [GO:0006955]; immune response-activating cell surface receptor signaling pathway [GO:0002429]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of defense response to virus by host [GO:0050689]; regulation of immune response [GO:0050776]; response to heat [GO:0009408]; response to oxidative stress [GO:0006979]; response to retinoic acid [GO:0032526]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; T cell mediated cytotoxicity [GO:0001913]; viral process [GO:0016032]

snps:
rs45578846 rs45583740 rs3131639 rs1065075 rs45486091 rs45502297 rs3134900 rs1051788 rs1051788 rs41293883 rs45624537 rs45587032 rs41273040 rs45470602 rs1065076 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:12466900}; Synonyms=MICB1 {ECO:0000269|PubMed:12466900}; IsoId=Q29980-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12466900}; Synonyms=MICB2 {ECO:0000269|PubMed:12466900}, ex3-del; IsoId=Q29980-2; Sequence=VSP_055246; Name=3 {ECO:0000269|PubMed:17678727}; IsoId=Q29980-3; Sequence=VSP_052801, VSP_052802; Note=A GC to AG nucleotide substitution in intron 1 generates a splice junction which gives rise to an additional exon between exons 1 and 2. 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:0000250|UniProtKB:Q29983}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q29983}. Note=Binding to human cytomegalovirus glycoprotein UL16 causes sequestration in the endoplasmic reticulum. {ECO:0000250|UniProtKB:Q29983, ECO:0000269|PubMed:12782710}.


uniprotID: Q6ZW33
geneSymbol: MICALCL
pdb: 5SZH;5SZI;5SZJ;5SZK;
name: MICAL C-terminal-like protein (Mical-cL) (ERK2-binding testicular protein 1) (Ebitein-1)
length: 695
go: ENSG00000133816;
snps: rs10741578 rs12574273 rs1493953 rs1493954 rs3812753 rs3812754
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitogen-activated protein kinase binding [GO:0051019]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]


uniprotID: Q7Z6M3
geneSymbol: MILR1
length: 343
go: ENSG00000271605;
name:
Allergin-1 (Allergy inhibitory receptor 1) (Mast cell antigen 32) (MCA-32) (Mast cell immunoglobulin-like receptor 1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; mast cell granule [GO:0042629]; mast cell degranulation [GO:0043303]; negative regulation of mast cell activation [GO:0033004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=L; IsoId=Q7Z6M3-1; Sequence=Displayed; Name=2; Synonyms=S1; IsoId=Q7Z6M3-2; Sequence=VSP_040766; Name=3; Synonyms=S2; IsoId=Q7Z6M3-3; Sequence=VSP_040765; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20526344}; Single-pass type I membrane protein {ECO:0000269|PubMed:20526344}.


uniprotID: Q7L4E1
geneSymbol: MIGA2
reactome: R-HSA-1483166;
name: Mitoguardin 2 (Protein FAM73B)
length: 593
go: ENSG00000148343;
snps: rs6478859 rs11544968 rs17452596
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; mitochondrial outer membrane [GO:0005741]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; bone development [GO:0060348]; mitochondrial fusion [GO:0008053]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7L4E1-1; Sequence=Displayed; Name=2; IsoId=Q7L4E1-2; Sequence=VSP_030087, VSP_030088; Note=No experimental confirmation available.; Name=3; IsoId=Q7L4E1-3; Sequence=VSP_030089, VSP_030090; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:26711011}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P14174
geneSymbol: MIF
reactome: R-HSA-202733;R-HSA-6798695;R-HSA-8950505;
length: 115
go: ENSG00000240972;
drug: DB07718;DB08334;DB08333;DB02728;DB04272;
pdb:
1CA7;1CGQ;1GCZ;1GD0;1GIF;1LJT;1MIF;1P1G;2OOH;2OOW;2OOZ;3B9S;3CE4;3DJH;3DJI;3HOF;3IJG;3IJJ;3JSF;3JSG;3JTU;3L5P;3L5R;3L5S;3L5T;3L5U;3L5V;3SMB;3SMC;3U18;3WNR;3WNS;3WNT;4ETG;4EUI;4EVG;4F2K;4GRN;4GRO;4GRP;4GRQ;4GRR;4GRU;4GUM;4K9G;4OSF;4OYQ;4P01;4P0H;4PKK;4PKZ;4PLU;4TRF;4TRU;4WR8;4WRB;4XX7;4XX8;4Z15;4Z1T;4Z1U;5B4O;5BS9;5BSC;5BSI;5BSJ;5EIZ;5HVS;5HVT;5HVV;5J7P;5J7Q;5UMJ;5UMK;5UZY;5V70;5V73;5XEJ;6B1C;6B1K;6B2C;6BG6;6BG7;6CB5;6CBF;6CBG;6CBH;6FVE;6FVH;

name:
Macrophage migration inhibitory factor (MIF) (EC 5.3.2.1) (Glycosylation-inhibiting factor) (GIF) (L-dopachrome isomerase) (L-dopachrome tautomerase) (EC 5.3.3.12) (Phenylpyruvate tautomerase)

sequence:
MPMFIVNTNVPRASVPDGFLSELTQQLAQATGKPPQYIAVHVVPDQLMAFGGSSEPCALCSLHSIGKIGGAQNRSYSKLLCGLLAERLRISPDRVYINYYDMNAANVGWNNSTFA

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; secretory granule lumen [GO:0034774]; vesicle [GO:0031982]; chemoattractant activity [GO:0042056]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; dopachrome isomerase activity [GO:0004167]; identical protein binding [GO:0042802]; phenylpyruvate tautomerase activity [GO:0050178]; protease binding [GO:0002020]; signaling receptor binding [GO:0005102]; carboxylic acid metabolic process [GO:0019752]; cell aging [GO:0007569]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-12-mediated signaling pathway [GO:0035722]; leukocyte migration [GO:0050900]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell aging [GO:0090344]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cellular protein metabolic process [GO:0032269]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of gene expression [GO:0010629]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of macrophage chemotaxis [GO:0010760]; negative regulation of mature B cell apoptotic process [GO:0002906]; negative regulation of myeloid cell apoptotic process [GO:0033033]; neutrophil degranulation [GO:0043312]; positive regulation of arachidonic acid secretion [GO:0090238]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000343]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of myeloid leukocyte cytokine production involved in immune response [GO:0061081]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphorylation [GO:0042327]; positive regulation of prostaglandin secretion involved in immune response [GO:0061078]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of tumor necrosis factor production [GO:0032760]; prostaglandin biosynthetic process [GO:0001516]; protein homotrimerization [GO:0070207]; regulation of macrophage activation [GO:0043030]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15908412, ECO:0000269|PubMed:19454686, ECO:0000269|PubMed:2552447, ECO:0000269|PubMed:8234256}. Cytoplasm {ECO:0000269|PubMed:11089976, ECO:0000269|PubMed:19454686}. Note=Does not have a cleavable signal sequence and is secreted via a specialized, non-classical pathway. Secreted by macrophages upon stimulation by bacterial lipopolysaccharide (LPS), or by M.tuberculosis antigens. {ECO:0000269|PubMed:15908412}.


uniprotID: Q8TD08
geneSymbol: MAPK15
length: 544
go: ENSG00000181085;
snps: rs60732298 rs56038219
name:
Mitogen-activated protein kinase 15 (MAP kinase 15) (MAPK 15) (EC 2.7.11.24) (Extracellular signal-regulated kinase 7) (ERK-7) (Extracellular signal-regulated kinase 8) (ERK-8)

sequence:

opentargets:
autophagosome [GO:0005776]; bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; intracellular [GO:0005622]; meiotic spindle [GO:0072687]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; kinase activity [GO:0016301]; MAP kinase activity [GO:0004707]; protein kinase activity [GO:0004672]; SH3 domain binding [GO:0017124]; cellular response to DNA damage stimulus [GO:0006974]; dopamine uptake [GO:0090494]; endoplasmic reticulum organization [GO:0007029]; intracellular signal transduction [GO:0035556]; negative regulation of cell migration [GO:0030336]; positive regulation of cell proliferation [GO:0008284]; positive regulation of metaphase/anaphase transition of meiosis I [GO:1905188]; positive regulation of spindle assembly [GO:1905832]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein autophosphorylation [GO:0046777]; protein localization to ciliary transition zone [GO:1904491]; regulation of autophagy [GO:0010506]; regulation of cilium assembly [GO:1902017]; regulation of COPII vesicle coating [GO:0003400]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TD08-1; Sequence=Displayed; Name=2; Synonyms=Erk8 delta; IsoId=Q8TD08-2; Sequence=VSP_017919, VSP_017920; Note=Appears not to be a CSK- and RET-dependent activated kinase.; Name=3; IsoId=Q8TD08-3; Sequence=VSP_017918, VSP_017921; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:29021280}. Cell junction, tight junction {ECO:0000269|PubMed:29021280}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:29021280}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:22948227}. Golgi apparatus {ECO:0000269|PubMed:24618899}. Nucleus {ECO:0000269|PubMed:20638370, ECO:0000269|PubMed:21190936}. Cytoplasm {ECO:0000269|PubMed:20638370, ECO:0000269|PubMed:21190936}. Cytoplasm, cytoskeleton, spindle {ECO:0000250|UniProtKB:Q80Y86}. Note=Co-localizes to the cytoplasm only in presence of ESRRA (PubMed:21190936). Translocates to the nucleus upon activation (PubMed:20638370). At prometaphase I, metaphase I (MI), anaphase I, telophase I, and metaphase II (MII) stages, is stably detected at the spindle (By similarity). {ECO:0000250|UniProtKB:Q80Y86, ECO:0000269|PubMed:20638370, ECO:0000269|PubMed:21190936}.


uniprotID: Q9H000
geneSymbol: MKRN2
length: 416
go: ENSG00000075975;
snps: rs5746260
name:
Probable E3 ubiquitin-protein ligase makorin-2 (EC 2.3.2.27) (RING finger protein 62) (RING-type E3 ubiquitin transferase makorin-2)

sequence:

opentargets:
intracellular [GO:0005622]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; transferase activity [GO:0016740]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H000-1; Sequence=Displayed; Name=2; IsoId=Q9H000-2; Sequence=VSP_055275; Note=No experimental confirmation available.; 


uniprotID: Q9NXB0
geneSymbol: MKS1
reactome: R-HSA-5610787;R-HSA-5620912;
name: Meckel syndrome type 1 protein
length: 559
go: ENSG00000011143;
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; MKS complex [GO:0036038]; branching morphogenesis of an epithelial tube [GO:0048754]; cardiac septum morphogenesis [GO:0060411]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; common bile duct development [GO:0061009]; determination of left/right symmetry [GO:0007368]; embryonic brain development [GO:1990403]; embryonic digit morphogenesis [GO:0042733]; embryonic skeletal system development [GO:0048706]; epithelial structure maintenance [GO:0010669]; head development [GO:0060322]; inner ear receptor cell stereocilium organization [GO:0060122]; motile cilium assembly [GO:0044458]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901620]; regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000095]; smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation [GO:0003271]

snps:
rs863225205 rs11653070 rs1114167302 rs202112856 rs201845154 rs151023718 rs863225208 rs773684291 rs863225210 rs200865108 rs137853105 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXB0-1; Sequence=Displayed; Name=2; IsoId=Q9NXB0-2; Sequence=VSP_017414; Note=No experimental confirmation available.; Name=3; IsoId=Q9NXB0-3; Sequence=VSP_046063; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269|PubMed:26490104}.


uniprotID: P19105
geneSymbol: MYL12A
reactome: R-HSA-3928664;R-HSA-445355;
length: 171
go: ENSG00000101608;
name:
Myosin regulatory light chain 12A (Epididymis secretory protein Li 24) (HEL-S-24) (MLC-2B) (Myosin RLC) (Myosin regulatory light chain 2, nonsarcomeric) (Myosin regulatory light chain MRLC3)

sequence:
MSSKRTKTKTKKRPQRATSNVFAMFDQSQIQEFKEAFNMIDQNRDGFIDKEDLHDMLASLGKNPTDEYLDAMMNEAPGPINFTMFLTMFGEKLNGTDPEDVIRNAFACFDEEATGTIQEDYLRELLTTMGDRFTDEEVDELYREAPIDKKGNFNYIEFTRILKHGAKDKDD

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; myosin complex [GO:0016459]; calcium ion binding [GO:0005509]; muscle contraction [GO:0006936]; platelet aggregation [GO:0070527]


uniprotID: P45984
geneSymbol: MAPK9
reactome: R-HSA-2559580;R-HSA-2871796;R-HSA-450321;R-HSA-450341;
pdb: 3E7O;3NPC;
length: 424
go: ENSG00000050748;
snps: rs35421153 rs35693958 rs55736180
name:
Mitogen-activated protein kinase 9 (MAP kinase 9) (MAPK 9) (EC 2.7.11.24) (JNK-55) (Stress-activated protein kinase 1a) (SAPK1a) (Stress-activated protein kinase JNK2) (c-Jun N-terminal kinase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; JUN kinase activity [GO:0004705]; MAP kinase activity [GO:0004707]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; transcription factor binding [GO:0008134]; cellular response to cadmium ion [GO:0071276]; cellular response to organic substance [GO:0071310]; cellular response to reactive oxygen species [GO:0034614]; Fc-epsilon receptor signaling pathway [GO:0038095]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; neuron development [GO:0048666]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of gene expression [GO:0010628]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of podosome assembly [GO:0071803]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription factor catabolic process [GO:1901485]; protein localization to tricellular tight junction [GO:0061833]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of gene expression [GO:0010468]; response to mechanical stimulus [GO:0009612]; rhythmic process [GO:0048511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Alpha-2; IsoId=P45984-1; Sequence=Displayed; Name=Alpha-1; IsoId=P45984-2; Sequence=VSP_004835; Name=Beta-1; IsoId=P45984-3; Sequence=VSP_004834, VSP_004835; Name=Beta-2; IsoId=P45984-4; Sequence=VSP_004834; Name=5; IsoId=P45984-5; Sequence=VSP_041908, VSP_041909; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19675674}. Nucleus {ECO:0000269|PubMed:19675674}. Note=Colocalizes with POU5F1 in the nucleus. {ECO:0000250|UniProtKB:Q9WTU6}.


uniprotID: Q5VWP3
geneSymbol: MLIP
length: 458
go: ENSG00000146147;
snps: rs17625497 rs4712056 rs6934690 rs2275769
name:
Muscular LMNA-interacting protein (Cardiac Isl1-interacting protein) (CIP) (Muscular-enriched A-type laminin-interacting protein)

sequence:

opentargets:
nuclear envelope [GO:0005635]; nuclear lumen [GO:0031981]; nucleus [GO:0005634]; PML body [GO:0016605]; sarcolemma [GO:0042383]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of cardiac muscle hypertrophy in response to stress [GO:1903243]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist according to PubMed:21498514.; Name=1; IsoId=Q5VWP3-1; Sequence=Displayed; Name=2; IsoId=Q5VWP3-2; Sequence=VSP_015320, VSP_015321, VSP_015322; Note=No experimental confirmation available.; Name=3; IsoId=Q5VWP3-3; Sequence=VSP_041463, VSP_041464; Note=No experimental confirmation available.; Name=4; IsoId=Q5VWP3-4; Sequence=VSP_041464, VSP_055202, VSP_055203; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5FW52}. Nucleus envelope {ECO:0000250|UniProtKB:Q5FW52}. Nucleus, PML body {ECO:0000250|UniProtKB:Q5FW52}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q5FW52}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q5FW52}; Cytoplasmic side {ECO:0000250|UniProtKB:Q5FW52}.


uniprotID: Q9UHC1
geneSymbol: MLH3
reactome: R-HSA-912446;
name: DNA mismatch repair protein Mlh3 (MutL protein homolog 3)
length: 1453
go: ENSG00000119684;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
chiasma [GO:0005712]; male germ cell nucleus [GO:0001673]; mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; centromeric DNA binding [GO:0019237]; chromatin binding [GO:0003682]; mismatched DNA binding [GO:0030983]; satellite DNA binding [GO:0003696]; single-stranded DNA binding [GO:0003697]; female meiosis I [GO:0007144]; male meiotic nuclear division [GO:0007140]; mismatch repair [GO:0006298]; protein localization [GO:0008104]; reciprocal meiotic recombination [GO:0007131]; synaptonemal complex assembly [GO:0007130]

snps:
rs28937870 rs28756978 rs28756979 rs28756981 rs28756982 rs28756983 rs760778201 rs28937871 rs28756984 rs28756985 rs28756986 rs28756987 rs28756988 rs28756989 rs28756990 rs28756991 rs143278116 rs175081 rs175080 rs28756992 rs17102999 rs17782839 rs377337763 rs776639203 rs28756993 rs28757008 rs28757011 rs138006166 rs28939071 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHC1-1; Sequence=Displayed; Name=2; IsoId=Q9UHC1-2; Sequence=VSP_003290; 


uniprotID: Q9H492
geneSymbol: MAP1LC3A
reactome: R-HSA-1632852;R-HSA-5205685;R-HSA-8934903;
pdb: 3ECI;3WAL;3WAN;4ZDV;5CX3;5DPR;
length: 121
go: ENSG00000101460;
name:
Microtubule-associated proteins 1A/1B light chain 3A (Autophagy-related protein LC3 A) (Autophagy-related ubiquitin-like modifier LC3 A) (MAP1 light chain 3-like protein 1) (MAP1A/MAP1B light chain 3 A) (MAP1A/MAP1B LC3 A) (Microtubule-associated protein 1 light chain 3 alpha)

sequence:
MPSDRPFKQRRSFADRCKEVQQIRDQHPSKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELVKIIRRRLQLNPTQAFFLLVNQHSMVSVSTPIADIYEQEKDEDGFLYMVYASQETFGF

opentargets:
autolysosome [GO:0044754]; autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; cytosol [GO:0005829]; late endosome [GO:0005770]; microtubule [GO:0005874]; organelle membrane [GO:0031090]; synapse [GO:0045202]; microtubule binding [GO:0008017]; phosphatidylethanolamine binding [GO:0008429]; phospholipid binding [GO:0005543]; ubiquitin protein ligase binding [GO:0031625]; autophagosome assembly [GO:0000045]; autophagosome maturation [GO:0097352]; autophagy of mitochondrion [GO:0000422]; cellular response to amino acid starvation [GO:0034198]; cellular response to copper ion [GO:0071280]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to nitrogen starvation [GO:0006995]; cellular response to starvation [GO:0009267]; macroautophagy [GO:0016236]; response to iron(II) ion [GO:0010040]; response to lead ion [GO:0010288]; response to morphine [GO:0043278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H492-1; Sequence=Displayed; Name=2; IsoId=Q9H492-2; Sequence=VSP_013660; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Endomembrane system; Lipid-anchor. Cytoplasmic vesicle, autophagosome membrane; Lipid-anchor. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:20529957, ECO:0000269|PubMed:23459205}. Note=LC3-II binds to the autophagic membranes.


uniprotID: P45452
geneSymbol: MMP13
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-2022090;R-HSA-8941332;
name: Collagenase 3 (EC 3.4.24.-) (Matrix metalloproteinase-13) (MMP-13)
length: 471
go: ENSG00000137745;
drug: DB03033;DB02049;DB01996;DB08490;DB02697;DB00786;DB07013;DB02071;
snps: rs554797 rs121909498 rs121909497 rs121909499 rs140059558 rs121909500 rs17860568
pdb:
1EUB;1FLS;1FM1;1PEX;1UC1;1XUC;1XUD;1XUR;1YOU;1ZTQ;2D1N;2E2D;2OW9;2OZR;2PJT;2YIG;3ELM;3I7G;3I7I;3KEC;3KEJ;3KEK;3KRY;3LJZ;3O2X;3TVC;3WV1;3WV2;3WV3;3ZXH;456C;4A7B;4FU4;4FVL;4G0D;4JP4;4JPA;4L19;5B5O;5B5P;5BOT;5BOY;5BPA;5UWK;5UWL;5UWM;5UWN;830C;

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; bone mineralization [GO:0030282]; bone morphogenesis [GO:0060349]; cellular protein metabolic process [GO:0044267]; collagen catabolic process [GO:0030574]; endochondral ossification [GO:0001958]; extracellular matrix disassembly [GO:0022617]; growth plate cartilage development [GO:0003417]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305|PubMed:8576151}. Secreted {ECO:0000269|PubMed:8576151}.


uniprotID: P51511
geneSymbol: MMP15
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;
length: 669
go: ENSG00000102996;
drug: DB00786;
snps: rs41340745 rs41335851 rs41504346 rs3743563 rs41434246
name:
Matrix metalloproteinase-15 (MMP-15) (EC 3.4.24.-) (Membrane-type matrix metalloproteinase 2) (MT-MMP 2) (MTMMP2) (Membrane-type-2 matrix metalloproteinase) (MT2-MMP) (MT2MMP) (SMCP-2)

sequence:

opentargets:
extracellular matrix [GO:0031012]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; enzyme activator activity [GO:0008047]; metalloaminopeptidase activity [GO:0070006]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; cellular protein modification process [GO:0006464]; collagen catabolic process [GO:0030574]; endodermal cell differentiation [GO:0035987]; extracellular matrix disassembly [GO:0022617]; proteolysis [GO:0006508]; response to estradiol [GO:0032355]

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


uniprotID: P51512
geneSymbol: MMP16
reactome: R-HSA-1592389;
pdb: 1RM8;
length: 607
go: ENSG00000156103;
drug: DB03880;DB00786;
name:
Matrix metalloproteinase-16 (MMP-16) (EC 3.4.24.-) (MMP-X2) (Membrane-type matrix metalloproteinase 3) (MT-MMP 3) (MTMMP3) (Membrane-type-3 matrix metalloproteinase) (MT3-MMP) (MT3MMP)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular matrix [GO:0031012]; Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; enzyme activator activity [GO:0008047]; metalloaminopeptidase activity [GO:0070006]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; chondrocyte proliferation [GO:0035988]; collagen catabolic process [GO:0030574]; craniofacial suture morphogenesis [GO:0097094]; embryonic cranial skeleton morphogenesis [GO:0048701]; endochondral ossification [GO:0001958]; extracellular matrix disassembly [GO:0022617]; protein metabolic process [GO:0019538]; protein processing [GO:0016485]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P51512-1; Sequence=Displayed; Name=Short; Synonyms=SM3; IsoId=P51512-2; Sequence=VSP_005453, VSP_005454; 

location:
SUBCELLULAR LOCATION: Isoform Long: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000305}. Note=Localized at the cell surface of melanoma cells.; SUBCELLULAR LOCATION: Isoform Short: Secreted, extracellular space, extracellular matrix. Cell surface. Note=Localized at the cell surface of melanoma cells.


uniprotID: Q99542
geneSymbol: MMP19
reactome: R-HSA-1442490;R-HSA-1474228;
length: 508
go: ENSG00000123342;
drug: DB00786;
snps: rs17844794 rs1056784 rs17118042 rs17844806
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
Matrix metalloproteinase-19 (MMP-19) (EC 3.4.24.-) (Matrix metalloproteinase RASI) (Matrix metalloproteinase-18) (MMP-18)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; luteolysis [GO:0001554]; ovarian follicle development [GO:0001541]; ovulation from ovarian follicle [GO:0001542]; proteolysis [GO:0006508]; response to cAMP [GO:0051591]; response to hormone [GO:0009725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=RASI-1, RASI-11; IsoId=Q99542-1; Sequence=Displayed; Name=2; Synonyms=RASI-9; IsoId=Q99542-3; Sequence=VSP_005457, VSP_005458; Name=3; Synonyms=RASI-6; IsoId=Q99542-4; Sequence=VSP_041893, VSP_041894; 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=Q99542-5; Sequence=VSP_054573, VSP_054574, VSP_054575; Note=No experimental confirmation available.; 


uniprotID: Q9UPX6
geneSymbol: MINAR1
length: 916
go: ENSG00000169330;
snps: rs11634652 rs2297773
name:
Major intrinsically disordered Notch2-binding receptor 1 (Membrane integral NOTCH2-associated receptor 1) (Ubiquitination and mTOR signaling protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; angiogenesis [GO:0001525]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron projection development [GO:0010977]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of TOR signaling [GO:0032007]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29329397, ECO:0000269|PubMed:30080879}; Single-pass type IV membrane protein {ECO:0000269|PubMed:30080879}.


uniprotID: Q96RR1
geneSymbol: TWNK
reactome: R-HSA-2151201;
length: 684
go: ENSG00000107815;
name:
Twinkle protein, mitochondrial (EC 3.6.4.12) (Progressive external ophthalmoplegia 1 protein) (T7 gp4-like protein with intramitochondrial nucleoid localization) (T7-like mitochondrial DNA helicase) (Twinkle mtDNA helicase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; 5'-3' DNA helicase activity [GO:0043139]; ATP binding [GO:0005524]; protease binding [GO:0002020]; single-stranded DNA binding [GO:0003697]; cellular response to glucose stimulus [GO:0071333]; DNA unwinding involved in DNA replication [GO:0006268]; mitochondrial DNA replication [GO:0006264]; mitochondrial transcription [GO:0006390]; mitochondrion organization [GO:0007005]; protein hexamerization [GO:0034214]; protein homooligomerization [GO:0051260]

snps:
rs137852956 rs111033575 rs80356542 rs80356543 rs28937887 rs62626271 rs111033576 rs111033573 rs17113613 rs111033579 rs863223920 rs111033577 rs556445621 rs11542126 rs672601361 rs386834145 rs80356544 rs111033574 rs11542127 rs111033572 rs1085307937 rs369588002 rs80356540 rs672601360 rs62626293 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RR1-1; Sequence=Displayed; Name=2; Synonyms=Twinky; IsoId=Q96RR1-2; Sequence=VSP_015960, VSP_015961; Name=3; IsoId=Q96RR1-3; Sequence=VSP_015959; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:11431692}. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.


uniprotID: Q8IZL8
geneSymbol: PELP1
reactome: R-HSA-6791226;R-HSA-8849473;
length: 1130
go: ENSG00000141456;
snps: rs9436
name:
Proline-, glutamic acid- and leucine-rich protein 1 (Modulator of non-genomic activity of estrogen receptor) (Transcription factor HMX3)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; MLL1 complex [GO:0071339]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; chromatin binding [GO:0003682]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; cellular response to estrogen stimulus [GO:0071391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:21326211}. Nucleus, nucleoplasm {ECO:0000269|PubMed:21326211}. Nucleus. Cytoplasm. Note=Mainly found in the nucleoplasm, with low levels detected in the cytoplasm (By similarity). Also found associated with the plasma membrane. Mainly in cytoplasm in a subset of breast tumors. Localization is widely deregulated in endometrial cancers with predominantly cytoplasm localization in high-grade endometrial tumors (PubMed:16140940). {ECO:0000250|UniProtKB:Q9DBD5, ECO:0000269|PubMed:16140940}.


uniprotID: P0DJD9
geneSymbol: PGA5
reactome: R-HSA-5683826;
name: Pepsin A-5 (EC 3.4.23.1) (Pepsinogen-5)
length: 388
go: ENSG00000256713;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; multivesicular body lumen [GO:0097486]; aspartic-type endopeptidase activity [GO:0004190]; peptidase activity [GO:0008233]; cellular protein metabolic process [GO:0044267]; digestion [GO:0007586]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]


uniprotID: P01210
geneSymbol: PENK
reactome: R-HSA-375276;R-HSA-381426;R-HSA-418594;R-HSA-8957275;
pdb: 1PLW;1PLX;2LWC;5E33;5E3A;
length: 267
go: ENSG00000181195;
snps: rs11998459 rs1800567
location: SUBCELLULAR LOCATION: Secreted.
name:
Proenkephalin-A [Cleaved into: Synenkephalin; Met-enkephalin (Opioid growth factor) (OGF); PENK(114-133); PENK(143-183); Met-enkephalin-Arg-Gly-Leu; Leu-enkephalin; PENK(237-258); Met-enkephalin-Arg-Phe]

sequence:

opentargets:
axon terminus [GO:0043679]; cell body fiber [GO:0070852]; dendrite [GO:0030425]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; neuronal cell body [GO:0043025]; neuronal dense core vesicle lumen [GO:0099013]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; symmetric synapse [GO:0032280]; synaptic vesicle lumen [GO:0034592]; neuropeptide hormone activity [GO:0005184]; opioid peptide activity [GO:0001515]; aggressive behavior [GO:0002118]; aging [GO:0007568]; behavioral fear response [GO:0001662]; cellular protein metabolic process [GO:0044267]; cellular response to cAMP [GO:0071320]; cellular response to oxidative stress [GO:0034599]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to virus [GO:0098586]; cellular response to vitamin D [GO:0071305]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; general adaptation syndrome, behavioral process [GO:0051867]; glial cell proliferation [GO:0014009]; locomotory exploration behavior [GO:0035641]; neuropeptide signaling pathway [GO:0007218]; osteoblast differentiation [GO:0001649]; positive regulation of behavioral fear response [GO:2000987]; post-translational protein modification [GO:0043687]; response to calcium ion [GO:0051592]; response to epinephrine [GO:0071871]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]; response to lipopolysaccharide [GO:0032496]; response to morphine [GO:0043278]; response to nicotine [GO:0035094]; response to radiation [GO:0009314]; sensory perception of pain [GO:0019233]; signal transduction [GO:0007165]; startle response [GO:0001964]


uniprotID: P40855
geneSymbol: PEX19
reactome: R-HSA-1369062;
pdb: 2W85;2WL8;3AJB;3MK4;5LNF;
length: 299
go: ENSG00000162735;
name:
Peroxisomal biogenesis factor 19 (33 kDa housekeeping protein) (Peroxin-19) (Peroxisomal farnesylated protein)

sequence:

opentargets:
brush border membrane [GO:0031526]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; protein-containing complex [GO:0032991]; ATPase binding [GO:0051117]; peroxisome membrane class-1 targeting sequence binding [GO:0036105]; protein N-terminus binding [GO:0047485]; chaperone-mediated protein folding [GO:0061077]; chaperone-mediated protein transport [GO:0072321]; establishment of protein localization to peroxisome [GO:0072663]; negative regulation of lipid binding [GO:1900131]; peroxisome fission [GO:0016559]; peroxisome membrane biogenesis [GO:0016557]; peroxisome organization [GO:0007031]; protein import into peroxisome membrane [GO:0045046]; protein stabilization [GO:0050821]; protein targeting to peroxisome [GO:0006625]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=PXF-all; IsoId=P40855-1; Sequence=Displayed; Note=The two main transcripts are PXF-all and PXF-delta-2.; Name=2; Synonyms=PXF-delta-2, PXF lacking exon 2; IsoId=P40855-2; Sequence=Not described; Note=The two main transcripts are PXF-all and PXF-delta-2.; Name=3; Synonyms=PXF-delta-4, PXF lacking exon 4; IsoId=P40855-3; Sequence=Not described; Name=4; Synonyms=PXF-delta-8, PXF lacking part of exon 8; IsoId=P40855-4; Sequence=Not described; Name=5; IsoId=P40855-5; Sequence=VSP_012649; Note=Incomplete sequence.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:11259404, ECO:0000269|PubMed:15007061}. Peroxisome membrane {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:15007061, ECO:0000269|PubMed:9339377}; Lipid-anchor {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:9339377}; Cytoplasmic side {ECO:0000269|PubMed:10051604, ECO:0000269|PubMed:9339377}. Note=Mainly cytoplasmic. Some fraction membrane-associated to the outer surface of peroxisomes. {ECO:0000269|PubMed:10704444, ECO:0000269|PubMed:15007061}.


uniprotID: Q92968
geneSymbol: PEX13
reactome: R-HSA-8866654;R-HSA-9033241;
name: Peroxisomal membrane protein PEX13 (Peroxin-13)
length: 403
go: ENSG00000162928;
snps: rs61752115
sequence:

opentargets:
integral component of peroxisomal membrane [GO:0005779]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; peroxisomal importomer complex [GO:1990429]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; cerebral cortex cell migration [GO:0021795]; fatty acid alpha-oxidation [GO:0001561]; locomotory behavior [GO:0007626]; microtubule-based peroxisome localization [GO:0060152]; neuron migration [GO:0001764]; protein import into peroxisome matrix, docking [GO:0016560]; protein targeting to peroxisome [GO:0006625]; protein ubiquitination [GO:0016567]; suckling behavior [GO:0001967]

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:11390669}; Single-pass membrane protein {ECO:0000269|PubMed:11390669}.


uniprotID: O43933
geneSymbol: PEX1
reactome: R-HSA-9033241;
name: Peroxisome biogenesis factor 1 (Peroxin-1) (Peroxisome biogenesis disorder protein 1)
length: 1283
go: ENSG00000127980;
location: SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; protein C-terminus binding [GO:0008022]; protein-containing complex binding [GO:0044877]; microtubule-based peroxisome localization [GO:0060152]; peroxisome organization [GO:0007031]; protein import into peroxisome matrix [GO:0016558]; protein targeting to peroxisome [GO:0006625]

snps:
rs370483961 rs61750407 rs4559173 rs121434455 rs35996821 rs863225084 rs61750419 rs61750420 rs535271603 rs61750427 rs61750429 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43933-1; Sequence=Displayed; Name=2; IsoId=O43933-2; Sequence=VSP_057136; Note=No experimental confirmation available.; 


uniprotID: Q9Y5Y5
geneSymbol: PEX16
name: Peroxisomal membrane protein PEX16 (Peroxin-16) (Peroxisomal biogenesis factor 16)
length: 336
go: ENSG00000121680;
snps: rs11553094 rs10742772 rs35214605 rs397514472
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of peroxisomal membrane [GO:0005779]; membrane [GO:0016020]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; protein C-terminus binding [GO:0008022]; ER-dependent peroxisome localization [GO:0106101]; ER-dependent peroxisome organization [GO:0032581]; peroxisome membrane biogenesis [GO:0016557]; peroxisome organization [GO:0007031]; protein import into peroxisome matrix [GO:0016558]; protein import into peroxisome membrane [GO:0045046]; protein targeting to peroxisome [GO:0006625]; protein to membrane docking [GO:0022615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5Y5-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Y5-2; Sequence=VSP_036593; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:11390669}; Multi-pass membrane protein {ECO:0000269|PubMed:11390669}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11390669}.


uniprotID: P28328
geneSymbol: PEX2
reactome: R-HSA-8866654;R-HSA-9033241;
length: 305
go: ENSG00000164751;
snps: rs61752119 rs10087163
location: SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
name:
Peroxisome biogenesis factor 2 (35 kDa peroxisomal membrane protein) (Peroxin-2) (Peroxisomal membrane protein 3) (Peroxisome assembly factor 1) (PAF-1) (RING finger protein 72)

sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; integral component of peroxisomal membrane [GO:0005779]; membrane [GO:0016020]; peroxisomal membrane [GO:0005778]; metal ion binding [GO:0046872]; fatty acid beta-oxidation [GO:0006635]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peroxisome organization [GO:0007031]; protein destabilization [GO:0031648]; protein import into peroxisome matrix [GO:0016558]; protein targeting to peroxisome [GO:0006625]; protein ubiquitination [GO:0016567]; very long-chain fatty acid metabolic process [GO:0000038]


uniprotID: Q8IYB4
geneSymbol: PEX5L
length: 626
go: ENSG00000114757;
snps: rs146906651
name:
PEX5-related protein (PEX2-related protein) (PEX5-like protein) (Peroxin-5-related protein) (Peroxisome biogenesis factor 5-like) (Tetratricopeptide repeat-containing Rab8b-interacting protein) (Pex5Rp) (TRIP8b)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal membrane [GO:0005778]; receptor complex [GO:0043235]; peroxisome matrix targeting signal-1 binding [GO:0005052]; peroxisome targeting sequence binding [GO:0000268]; small GTPase binding [GO:0031267]; protein import into peroxisome matrix, docking [GO:0016560]; regulation of cAMP-mediated signaling [GO:0043949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=PXR2b; IsoId=Q8IYB4-1; Sequence=Displayed; Name=2; Synonyms=PXR2a; IsoId=Q8IYB4-2; Sequence=VSP_010435; Name=3; IsoId=Q8IYB4-3; Sequence=VSP_010436; Name=4; IsoId=Q8IYB4-4; Sequence=VSP_044743; Note=No experimental confirmation available.; Name=5; IsoId=Q8IYB4-5; Sequence=VSP_045136; Name=6; IsoId=Q8IYB4-6; Sequence=VSP_046977; Name=7; IsoId=Q8IYB4-7; Sequence=VSP_045136, VSP_046978; Name=8; IsoId=Q8IYB4-8; Sequence=VSP_046976; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Some fraction is membrane associated via its interaction with RAB8B. {ECO:0000250}.


uniprotID: Q96BD5
geneSymbol: PHF21A
reactome: R-HSA-3214815;R-HSA-983231;
pdb: 2PUY;2YQL;
name: PHD finger protein 21A (BHC80a) (BRAF35-HDAC complex protein BHC80)
length: 680
go: ENSG00000135365;
snps: rs3736508
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
DNA repair complex [GO:1990391]; histone deacetylase complex [GO:0000118]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; histone deacetylase activity [GO:0004407]; metal ion binding [GO:0046872]; blood coagulation [GO:0007596]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96BD5-1; Sequence=Displayed; Name=2; Synonyms=hBHC80-4; IsoId=Q96BD5-2; Sequence=VSP_017448, VSP_017449; Name=3; IsoId=Q96BD5-3; Sequence=VSP_017448; 


uniprotID: Q96EK2
geneSymbol: PHF21B
name: PHD finger protein 21B
length: 531
go: ENSG00000056487;
opentargets: metal ion binding [GO:0046872]
snps: rs8135982
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EK2-1; Sequence=Displayed; Name=2; Synonyms=3; IsoId=Q96EK2-3; Sequence=VSP_017456; Name=3; IsoId=Q96EK2-4; Sequence=VSP_043149, VSP_017456; Note=No experimental confirmation available.; 


uniprotID: P10720
geneSymbol: PF4V1
reactome: R-HSA-140875;R-HSA-202733;
pdb: 4HSV;
length: 104
go: ENSG00000109272;
location: SUBCELLULAR LOCATION: Secreted.
name:
Platelet factor 4 variant (C-X-C motif chemokine 4 variant) (CXCL4L1) (PF4alt) (PF4var1) [Cleaved into: Platelet factor 4 variant(4-74); Platelet factor 4 variant(5-74); Platelet factor 4 variant(6-74)]

sequence:
MSSAARSRLTRATRQEMLFLALLLLPVVVAFARAEAEEDGDLQCLCVKTTSQVRPRHITSLEVIKAGPHCPTAQLIATLKNGRKICLDLQALLYKKIIKEHLES

opentargets:
extracellular space [GO:0005615]; chemokine activity [GO:0008009]; heparin binding [GO:0008201]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; immune response [GO:0006955]; inflammatory response [GO:0006954]; leukocyte chemotaxis [GO:0030595]; neutrophil chemotaxis [GO:0030593]; platelet activation [GO:0030168]


uniprotID: Q99471
geneSymbol: PFDN5
reactome: R-HSA-389957;
name: Prefoldin subunit 5 (Myc modulator 1) (c-Myc-binding protein Mm-1)
length: 154
go: ENSG00000123349;
sequence:
MAQSINITELNLPQLEMLKNQLDQEVEFLSTSIAQLKVVQTKYVEAKDCLNVLNKSNEGKELLVPLTSSMYVPGKLHDVEHVLIDVGTGYYVEKTAEDAKDFFKRKIDFLTKQMEKIQPALQEKHAMKQAVMEMMSQKIQQLTALGAAQATAKA

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; prefoldin complex [GO:0016272]; transcription corepressor activity [GO:0003714]; unfolded protein binding [GO:0051082]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of transcription, DNA-templated [GO:0045892]; protein folding [GO:0006457]; regulation of transcription, DNA-templated [GO:0006355]; retina development in camera-type eye [GO:0060041]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=MM1-alpha; IsoId=Q99471-1; Sequence=Displayed; Name=2; Synonyms=MM1-beta; IsoId=Q99471-2; Sequence=VSP_043104; Note=Does not repress transcription activity of MYC.; Name=3; Synonyms=MM1-gamma; IsoId=Q99471-3; Sequence=VSP_043103; 

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


uniprotID: O15212
geneSymbol: PFDN6
reactome: R-HSA-389957;
name: Prefoldin subunit 6 (Protein Ke2)
length: 129
go: ENSG00000204220;
sequence:
MAELIQKKLQGEVEKYQQLQKDLSKSMSGRQKLEAQLTENNIVKEELALLDGSNVVFKLLGPVLVKQELGEARATVGKRLDYITAEIKRYESQLRDLERQSEQQRETLAQLQQEFQRAQAAKAGAPGKA

opentargets:
cytoplasm [GO:0005737]; prefoldin complex [GO:0016272]; chaperone binding [GO:0051087]; unfolded protein binding [GO:0051082]; chaperone-mediated protein complex assembly [GO:0051131]; protein folding [GO:0006457]


uniprotID: Q9UHV9
geneSymbol: PFDN2
reactome: R-HSA-389957;
name: Prefoldin subunit 2
length: 154
go: ENSG00000143256;
sequence:
MAENSGRAGKSSGSGAGKGAVSAEQVIAGFNRLRQEQRGLASKAAELEMELNEHSLVIDTLKEVDETRKCYRMVGGVLVERTVKEVLPALENNKEQIQKIIETLTQQLQAKGKELNEFREKHNIRLMGEDEKPAAKENSEGAGAKASSAGVLVS

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; prefoldin complex [GO:0016272]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; positive regulation of cytoskeleton organization [GO:0051495]; protein folding [GO:0006457]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17936702}. Cytoplasm {ECO:0000269|PubMed:17936702}. Mitochondrion {ECO:0000269|PubMed:17936702}.


uniprotID: P61758
geneSymbol: VBP1
reactome: R-HSA-389957;
name: Prefoldin subunit 3 (HIBBJ46) (von Hippel-Lindau-binding protein 1) (VBP-1) (VHL-binding protein 1)
length: 197
snps: rs572013
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In complex with VHL can translocate to the nucleus.
sequence:
MAAVKDSCGKGEMATGNGRRLHLGIPEAVFVEDVDSFMKQPGNETADTVLKKLDEQYQKYKFMELNLAQKKRRLKGQIPEIKQTLEILKYMQKKKESTNSMETRFLLADNLYCKASVPPTDKMCLWLGANVMLEYDIDEAQALLEKNLSTATKNLDSLEEDLDFLRDQFTTTEVNMARVYNWDVKRRNKDDSTKNKA

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; polysome [GO:0005844]; prefoldin complex [GO:0016272]; tubulin binding [GO:0015631]; microtubule-based process [GO:0007017]; protein folding [GO:0006457]; tubulin complex assembly [GO:0007021]


uniprotID: P08237
geneSymbol: PFKM
reactome: R-HSA-70171;
pdb: 4OMT;
length: 780
go: ENSG00000152556;
snps: rs121918193 rs121918193 rs2228500 rs767265360 rs1169383137 rs121918194 rs121918196 rs41291971
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03184}.
name:
ATP-dependent 6-phosphofructokinase, muscle type (ATP-PFK) (PFK-M) (EC 2.7.1.11) (6-phosphofructokinase type A) (Phosphofructo-1-kinase isozyme A) (PFK-A) (Phosphohexokinase)

sequence:

opentargets:
6-phosphofructokinase complex [GO:0005945]; apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; nucleus [GO:0005634]; sperm principal piece [GO:0097228]; 6-phosphofructokinase activity [GO:0003872]; AMP binding [GO:0016208]; ATP binding [GO:0005524]; fructose binding [GO:0070061]; fructose-6-phosphate binding [GO:0070095]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; monosaccharide binding [GO:0048029]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; canonical glycolysis [GO:0061621]; fructose 1,6-bisphosphate metabolic process [GO:0030388]; fructose 6-phosphate metabolic process [GO:0006002]; glucose catabolic process [GO:0006007]; glucose homeostasis [GO:0042593]; glycogen catabolic process [GO:0005980]; glycolysis from storage polysaccharide through glucose-1-phosphate [GO:0093001]; glycolytic process [GO:0006096]; glycolytic process through fructose-6-phosphate [GO:0061615]; muscle cell cellular homeostasis [GO:0046716]; positive regulation of insulin secretion [GO:0032024]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein complex oligomerization [GO:0051259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P08237-1; Sequence=Displayed; Name=2; IsoId=P08237-2; Sequence=VSP_004667; Name=3; IsoId=P08237-3; Sequence=VSP_046125; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P48651
geneSymbol: PTDSS1
reactome: R-HSA-1483101;
name: Phosphatidylserine synthase 1 (PSS-1) (PtdSer synthase 1) (EC 2.7.8.29) (Serine-exchange enzyme I)
length: 473
go: ENSG00000156471;
drug: DB00144;
snps: rs587777090 rs587777089 rs587777088 rs7835798
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; transferase activity [GO:0016740]; phosphatidylserine biosynthetic process [GO:0006659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48651-1; Sequence=Displayed; Name=2; IsoId=P48651-2; Sequence=VSP_055980; Note=No experimental confirmation available.; Name=3; IsoId=P48651-3; Sequence=VSP_057421, VSP_057422; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Highly enriched in the mitochondria-associated membrane (MAM). {ECO:0000250}.


uniprotID: P36871
geneSymbol: PGM1
reactome: R-HSA-3322077;R-HSA-5609974;R-HSA-6798695;R-HSA-70221;R-HSA-70370;
pdb: 5EPC;5F9C;5HSH;5JN5;5TR2;5VBI;5VEC;5VG7;5VIN;6BJ0;
name: Phosphoglucomutase-1 (PGM 1) (EC 5.4.2.2) (Glucose phosphomutase 1)
length: 562
go: ENSG00000079739;
drug: DB04397;
location: SUBCELLULAR LOCATION: Isoform 1: Cytoplasm.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; tertiary granule lumen [GO:1904724]; magnesium ion binding [GO:0000287]; phosphoglucomutase activity [GO:0004614]; galactose catabolic process [GO:0019388]; gluconeogenesis [GO:0006094]; glucose metabolic process [GO:0006006]; glycogen biosynthetic process [GO:0005978]; glycogen catabolic process [GO:0005980]; glycolytic process [GO:0006096]; neutrophil degranulation [GO:0043312]

snps:
rs587777402 rs1300651770 rs587777403 rs200390982 rs855314 rs121918371 rs398122912 rs1126728 rs587777404 rs772768778 rs777164338 rs1301021797 rs11208257 rs6676290 rs587777401 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P36871-1; Sequence=Displayed; Name=2; IsoId=P36871-2; Sequence=VSP_004686; Name=3; IsoId=P36871-3; Sequence=VSP_045204; Note=No experimental confirmation available.; 


uniprotID: Q6PCE3
geneSymbol: PGM2L1
reactome: R-HSA-3322077;R-HSA-70171;R-HSA-70221;R-HSA-70370;
name: Glucose 1,6-bisphosphate synthase (EC 2.7.1.106) (PMMLP) (Phosphoglucomutase-2-like 1)
length: 622
go: ENSG00000165434;
snps: rs12049823 rs592644 rs36014178
sequence:

opentargets:
cytosol [GO:0005829]; glucose-1,6-bisphosphate synthase activity [GO:0047933]; metal ion binding [GO:0046872]; phosphoglucomutase activity [GO:0004614]; canonical glycolysis [GO:0061621]; galactose catabolic process [GO:0019388]; glycogen biosynthetic process [GO:0005978]; glycogen catabolic process [GO:0005980]


uniprotID: Q9UHX1
geneSymbol: PUF60
reactome: R-HSA-72163;
pdb: 2DNY;2KXF;2KXH;2QFJ;3DXB;3UE2;3US5;3UWT;5KVY;5KW1;5KW6;5KWQ;
length: 559
go: ENSG00000179950;
snps: rs398123001
name:
Poly(U)-binding-splicing factor PUF60 (60 kDa poly(U)-binding-splicing factor) (FUSE-binding protein-interacting repressor) (FBP-interacting repressor) (Ro-binding protein 1) (RoBP1) (Siah-binding protein 1) (Siah-BP1)

sequence:

opentargets:
cell junction [GO:0030054]; nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UHX1-1; Sequence=Displayed; Name=2; IsoId=Q9UHX1-2; Sequence=VSP_027719; Name=3; IsoId=Q9UHX1-3; Sequence=VSP_027717; Name=4; IsoId=Q9UHX1-4; Sequence=VSP_027717, VSP_027719; Name=5; IsoId=Q9UHX1-5; Sequence=VSP_027718; Name=6; IsoId=Q9UHX1-6; Sequence=VSP_027718, VSP_027719; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10668799, ECO:0000269|PubMed:17579712}. Note=Colocalizes partially with TROVE2.


uniprotID: O15173
geneSymbol: PGRMC2
length: 223
go: ENSG00000164040;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Membrane-associated progesterone receptor component 2 (Progesterone membrane-binding protein) (Steroid receptor protein DG6)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; heme binding [GO:0020037]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15173-1; Sequence=Displayed; Name=2; IsoId=O15173-2; Sequence=VSP_053500; Note=No experimental confirmation available.; 


uniprotID: Q32NB8
geneSymbol: PGS1
reactome: R-HSA-1483148;
length: 556
go: ENSG00000087157;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial (EC 2.7.8.5) (Phosphatidylglycerophosphate synthase 1) (PGP synthase 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity [GO:0008444]; cardiolipin biosynthetic process [GO:0032049]; diacylglycerol metabolic process [GO:0046339]; phosphatidylglycerol biosynthetic process [GO:0006655]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q32NB8-1; Sequence=Displayed; Name=2; IsoId=Q32NB8-2; Sequence=VSP_033899, VSP_033902, VSP_033903; Name=3; IsoId=Q32NB8-3; Sequence=VSP_033900, VSP_033901; Note=No experimental confirmation available.; Name=4; IsoId=Q32NB8-4; Sequence=VSP_033897, VSP_033898; Note=No experimental confirmation available.; 


uniprotID: P21810
geneSymbol: BGN
name: Biglycan (Bone/cartilage proteoglycan I) (PG-S1)
length: 368
go: ENSG00000182492;
snps: rs886037825 rs879255604 rs879255605 rs886037824
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
reactome:
R-HSA-1971475;R-HSA-2022870;R-HSA-2022923;R-HSA-2024101;R-HSA-3000178;R-HSA-3560783;R-HSA-3560801;R-HSA-3595172;R-HSA-3595174;R-HSA-3595177;R-HSA-4420332;

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; sarcolemma [GO:0042383]; transport vesicle [GO:0030133]; extracellular matrix binding [GO:0050840]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; glycosaminoglycan binding [GO:0005539]; blood vessel remodeling [GO:0001974]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate biosynthetic process [GO:0030208]; extracellular matrix organization [GO:0030198]; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan [GO:0019800]


uniprotID: P07585
geneSymbol: DCN
name: Decorin (Bone proteoglycan II) (PG-S2) (PG40)
length: 359
go: ENSG00000011465;
drug: DB03754;
snps: rs3138268 rs1803344
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
reactome:
R-HSA-1474228;R-HSA-1971475;R-HSA-2022870;R-HSA-2022923;R-HSA-2024101;R-HSA-3000178;R-HSA-3560783;R-HSA-3560801;R-HSA-3595172;R-HSA-3595174;R-HSA-3595177;R-HSA-4420332;

sequence:

opentargets:
collagen type VI trimer [GO:0005589]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; collagen binding [GO:0005518]; extracellular matrix binding [GO:0050840]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; glycosaminoglycan binding [GO:0005539]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; aging [GO:0007568]; animal organ morphogenesis [GO:0009887]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate biosynthetic process [GO:0030208]; extracellular matrix organization [GO:0030198]; kidney development [GO:0001822]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of vascular endothelial growth factor signaling pathway [GO:1900747]; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan [GO:0019800]; placenta development [GO:0001890]; positive regulation of autophagy [GO:0010508]; positive regulation of macroautophagy [GO:0016239]; positive regulation of mitochondrial depolarization [GO:0051901]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to lipopolysaccharide [GO:0032496]; response to mechanical stimulus [GO:0009612]; skeletal muscle tissue development [GO:0007519]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=A; IsoId=P07585-1; Sequence=Displayed; Name=B; IsoId=P07585-2; Sequence=VSP_006172; Name=C; IsoId=P07585-3; Sequence=VSP_006173; Name=D; IsoId=P07585-4; Sequence=VSP_006174; Name=E; IsoId=P07585-5; Sequence=VSP_006175, VSP_006176; 


uniprotID: Q15397
geneSymbol: PUM3
pdb: 4WZR;4WZW;
length: 648
go: ENSG00000080608;
snps: rs10968457 rs35869387 rs2173904 rs2270891 rs3736390 rs2270889
name:
Pumilio homolog 3 (HBV X-transactivated gene 5 protein) (HBV XAg-transactivated protein 5) (Minor histocompatibility antigen HA-8) (HLA-HA8)

sequence:

opentargets:
chromosome [GO:0005694]; endoplasmic reticulum [GO:0005783]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; regulation of protein ADP-ribosylation [GO:0010835]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:21266351, ECO:0000269|Ref.6}. Nucleus, nucleoplasm {ECO:0000269|PubMed:21266351}. Chromosome {ECO:0000269|PubMed:20813266}. Note=Localizes predominantly in the nucleolus with minor punctate signals in the nucleoplasm. {ECO:0000269|PubMed:21266351}.


uniprotID: P00439
geneSymbol: PAH
reactome: R-HSA-2160456;R-HSA-71182;
pdb: 1DMW;1J8T;1J8U;1KW0;1LRM;1MMK;1MMT;1PAH;1TDW;1TG2;2PAH;3PAH;4ANP;4PAH;5FII;5PAH;6PAH;
name: Phenylalanine-4-hydroxylase (PAH) (EC 1.14.16.1) (Phe-4-monooxygenase)
length: 452
go: ENSG00000171759;
drug: DB03673;DB06262;DB00668;DB00120;DB00368;DB04419;DB00360;
sequence:

opentargets:
cytosol [GO:0005829]; iron ion binding [GO:0005506]; phenylalanine 4-monooxygenase activity [GO:0004505]; catecholamine biosynthetic process [GO:0042423]; cellular amino acid biosynthetic process [GO:0008652]; L-phenylalanine catabolic process [GO:0006559]; neurotransmitter biosynthetic process [GO:0042136]

snps:
rs62642946 rs199475662 rs62642926 rs62642938 rs62642928 rs62642916 rs62635346 rs74603784 rs118203925 rs5030841 rs118092776 rs199475598 rs199475567 rs199475651 rs75193786 rs75193786 rs75193786 rs199475643 rs5030842 rs76394784 rs62507347 rs62507347 rs62514902 rs62516151 rs62514903 rs62517167 rs62642929 rs199475571 rs199475606 rs199475572 rs140175796 rs199475599 rs80297647 rs199475597 rs199475587 rs199475663 rs199475612 rs5030843 rs75166491 rs199475601 rs79635844 rs199475595 rs77554925 rs77554925 rs199475679 rs199475655 rs199475652 rs199475573 rs199475596 rs199475613 rs199475574 rs138809906 rs199475632 rs199475604 rs74486803 rs74486803 rs199475602 rs199475602 rs77958223 rs199475664 rs62514919 rs5030844 rs62517180 rs62517205 rs62514927 rs62508593 rs62517170 rs62508572 rs62508721 rs62514931 rs62517198 rs62516109 rs62508718 rs62514933 rs62514934 rs62507319 rs199475576 rs62517204 rs199475589 rs62508615 rs62516152 rs62508577 rs5030845 rs62517208 rs199475577 rs62517178 rs62508594 rs76687508 rs62508730 rs62508730 rs199475578 rs62508588 rs118203923 rs796052017 rs76212747 rs62508694 rs199475610 rs199475579 rs62507340 rs74503222 rs5030847 rs62644503 rs5030847 rs62642930 rs62642931 rs5030848 rs62642932 rs118203921 rs5030849 rs5030849 rs62642944 rs199475580 rs62517181 rs62508692 rs62514950 rs62514951 rs62517164 rs62514953 rs142934616 rs62508715 rs62514954 rs62516149 rs62516155 rs78655458 rs62516156 rs62507262 rs62508698 rs5030851 rs199475582 rs62517168 rs62508693 rs62642945 rs62642939 rs62642933 rs5030853 rs199475609 rs199475608 rs199475592 rs62642934 rs62642935 rs62642935 rs62642913 rs62642913 rs62642936 rs62642940 rs199475650 rs62642918 rs62514958 rs62514957 rs62508578 rs62508580 rs62517179 rs62516060 rs62517174 rs62517206 rs62516150 rs62516153 rs62516153 rs62507282 rs62507265 rs62508679 rs62508582 rs62516062 rs62516062 rs62516154 rs62516092 rs62507279 rs62508646 rs62517183 rs62508595 rs62507329 rs62516098 rs62517163 rs62642942 rs62642937 rs62516141 rs62517194 rs62516101 rs62516101 rs5030856 rs62516102 rs62516142 rs62508736 rs62516103 rs5030857 rs62644473 rs62644465 rs5030859 rs5030858 rs62644475 rs79931499 rs62644467 rs5030860 rs62644499 rs62644471 rs62644501 rs199475607 rs76542238 


uniprotID: Q9H814
geneSymbol: PHAX
reactome: R-HSA-191859;R-HSA-6807505;
pdb: 2XC7;
name: Phosphorylated adapter RNA export protein (RNA U small nuclear RNA export adapter protein)
length: 394
go: ENSG00000164902;
snps: rs3734173
sequence:

opentargets:
Cajal body [GO:0015030]; centrosome [GO:0005813]; cytosol [GO:0005829]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; toxic substance binding [GO:0015643]; nuclear export [GO:0051168]; protein transport [GO:0015031]; snRNA export from nucleus [GO:0006408]; snRNA transcription by RNA polymerase II [GO:0042795]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:11333016, ECO:0000269|PubMed:15574332}. Nucleus, Cajal body {ECO:0000269|PubMed:15574332}. Cytoplasm {ECO:0000269|PubMed:11333016}. Note=Located in the nucleoplasm and Cajal bodies. Shuttles between the nucleus and the cytoplasm. Shuttles between the nucleoplasm and Cajal bodies. {ECO:0000269|PubMed:11333016, ECO:0000269|PubMed:15574332}.


uniprotID: O75167
geneSymbol: PHACTR2
reactome: R-HSA-114608;
name: Phosphatase and actin regulator 2
length: 634
go: ENSG00000112419;
snps: rs2073214 rs2295201
sequence:

opentargets:
plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; actin binding [GO:0003779]; protein phosphatase inhibitor activity [GO:0004864]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75167-1; Sequence=Displayed; Name=2; IsoId=O75167-2; Sequence=VSP_012272, VSP_012273; Name=4; IsoId=O75167-4; Sequence=VSP_012272; Name=5; IsoId=O75167-5; Sequence=VSP_012273; 

location:
SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q96QT6
geneSymbol: PHF12
pdb: 2L9S;2LKM;
name: PHD finger protein 12 (PHD factor 1) (Pf1)
length: 1004
go: ENSG00000109118;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11390640}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Sin3 complex [GO:0016580]; Sin3-type complex [GO:0070822]; transcriptional repressor complex [GO:0017053]; metal ion binding [GO:0046872]; phosphatidylinositol binding [GO:0035091]; transcription corepressor activity [GO:0003714]; transcription corepressor binding [GO:0001222]; 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=5;  Name=1 {ECO:0000305}; IsoId=Q96QT6-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:11390640}; IsoId=Q96QT6-2; Sequence=VSP_051769, VSP_051770; Name=3 {ECO:0000305}; IsoId=Q96QT6-3; Sequence=VSP_051768, VSP_051771, VSP_051772; Note=Incomplete sequence. No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000305}; IsoId=Q96QT6-4; Sequence=VSP_051767; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q96QT6-5; Sequence=VSP_051771, VSP_051772; Note=No experimental confirmation available.; 


uniprotID: Q9BUL5
geneSymbol: PHF23
name: PHD finger protein 23 (PDH-containing protein JUNE-1)
length: 403
go: ENSG00000040633;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; metal ion binding [GO:0046872]; autophagy [GO:0006914]; mitotic chromosome condensation [GO:0007076]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of autophagosome maturation [GO:1901097]; positive regulation of protein ubiquitination [GO:0031398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BUL5-1; Sequence=Displayed; Name=2; Synonyms=JUNE1B; IsoId=Q9BUL5-2; Sequence=VSP_027962, VSP_027963; Note=No experimental confirmation available.; Name=3; IsoId=Q9BUL5-3; Sequence=VSP_056058; Note=No experimental confirmation available.; Name=4; IsoId=Q9BUL5-4; Sequence=VSP_057218; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25484098}. Cytoplasm {ECO:0000269|PubMed:25484098}. Note=Mainly present in the nucleus and part in the cytoplasm. {ECO:0000269|PubMed:25484098}.


uniprotID: Q16816
geneSymbol: PHKG1
reactome: R-HSA-70221;
length: 387
go: ENSG00000164776;
snps: rs368370244 rs149458708
name:
Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform (PHK-gamma-M) (EC 2.7.11.19) (Phosphorylase kinase subunit gamma-1) (Serine/threonine-protein kinase PHKG1) (EC 2.7.11.1) (EC 2.7.11.26)

sequence:

opentargets:
cytosol [GO:0005829]; phosphorylase kinase complex [GO:0005964]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; enzyme binding [GO:0019899]; phosphorylase kinase activity [GO:0004689]; tau-protein kinase activity [GO:0050321]; carbohydrate metabolic process [GO:0005975]; glycogen biosynthetic process [GO:0005978]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16816-1; Sequence=Displayed; Name=2; IsoId=Q16816-2; Sequence=VSP_044716; Note=No experimental confirmation available.; 


uniprotID: Q92576
geneSymbol: PHF3
pdb: 2DME;
name: PHD finger protein 3
length: 2039
go: ENSG00000118482;
snps: rs34288820 rs3734881
sequence:

opentargets:
metal ion binding [GO:0046872]; multicellular organism development [GO:0007275]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92576-1; Sequence=Displayed; Name=2; IsoId=Q92576-2; Sequence=VSP_026434; Note=No experimental confirmation available.; 


uniprotID: Q9UPP1
geneSymbol: PHF8
reactome: R-HSA-2299718;R-HSA-3214842;
pdb: 2WWU;3K3N;3K3O;3KV4;4DO0;
name: Histone lysine demethylase PHF8 (EC 1.14.11.27) (PHD finger protein 8)
length: 1060
go: ENSG00000172943;
snps: rs121918524
sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K27 specific) [GO:0071558]; histone demethylase activity (H3-K36 specific) [GO:0051864]; histone demethylase activity (H3-K9 specific) [GO:0032454]; histone demethylase activity (H4-K20 specific) [GO:0035575]; iron ion binding [GO:0005506]; methylated histone binding [GO:0035064]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; zinc ion binding [GO:0008270]; brain development [GO:0007420]; G1/S transition of mitotic cell cycle [GO:0000082]; histone H3-K27 demethylation [GO:0071557]; histone H3-K36 demethylation [GO:0070544]; histone H3-K9 demethylation [GO:0033169]; histone H4-K20 demethylation [GO:0035574]; negative regulation of chromatin silencing at rDNA [GO:0061188]; positive regulation of transcription by RNA polymerase I [GO:0045943]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9UPP1-1; Sequence=Displayed; Name=2; IsoId=Q9UPP1-2; Sequence=VSP_014964; Name=3; IsoId=Q9UPP1-3; Sequence=VSP_014965; Note=No experimental confirmation available.; Name=4; IsoId=Q9UPP1-4; Sequence=VSP_014964, VSP_014965, VSP_043640; Note=No experimental confirmation available.; Name=5; IsoId=Q9UPP1-5; Sequence=VSP_014964, VSP_054019, VSP_054020, VSP_054021; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Note=Recruited to H3K4me3 sites on chromatin during interphase. Dissociates from chromatin when cells enter mitosis.


uniprotID: O60346
geneSymbol: PHLPP1
reactome: R-HSA-199418;
length: 1717
go: ENSG00000081913;
snps: rs9950585
name:
PH domain leucine-rich repeat-containing protein phosphatase 1 (EC 3.1.3.16) (Pleckstrin homology domain-containing family E member 1) (PH domain-containing family E member 1) (Suprachiasmatic nucleus circadian oscillatory protein) (hSCOP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment membrane [GO:0042622]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; apoptotic process [GO:0006915]; entrainment of circadian clock [GO:0009649]; negative regulation of protein kinase B signaling [GO:0051898]; protein dephosphorylation [GO:0006470]; regulation of apoptotic process [GO:0042981]; regulation of JNK cascade [GO:0046328]; regulation of MAPK cascade [GO:0043408]; regulation of p38MAPK cascade [GO:1900744]; regulation of T cell anergy [GO:0002667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=beta; IsoId=O60346-1; Sequence=Displayed; Name=2; Synonyms=alpha; IsoId=O60346-2; Sequence=VSP_057809; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=In colorectal cancer tissue, expression is concentrated at the lateral membrane of epithelial cells.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:21804599}.


uniprotID: Q6ZVD8
geneSymbol: PHLPP2
reactome: R-HSA-199418;
length: 1323
go: ENSG00000040199;
name:
PH domain leucine-rich repeat-containing protein phosphatase 2 (EC 3.1.3.16) (PH domain leucine-rich repeat-containing protein phosphatase-like) (PHLPP-like)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment membrane [GO:0042622]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; hippocampus development [GO:0021766]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZVD8-1; Sequence=Displayed; Name=2; IsoId=Q6ZVD8-2; Sequence=VSP_014056, VSP_014057; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZVD8-3; Sequence=VSP_017265; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Note=In colorectal cancer tissue, expression is concentrated in the cytoplasm and nucleus.


uniprotID: Q9Y3A3
geneSymbol: MOB4
pdb: 5YF4;
length: 225
go: ENSG00000115540;
name:
MOB-like protein phocein (2C4D) (Class II mMOB1) (Mob1 homolog 3) (Mob3) (Mps one binder kinase activator-like 3) (Preimplantation protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y3A3-1; Sequence=Displayed; Name=2; IsoId=Q9Y3A3-2; Sequence=VSP_012303; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y3A3-3; Sequence=VSP_041091; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:11319234}. Membrane {ECO:0000269|PubMed:11319234}; Peripheral membrane protein {ECO:0000269|PubMed:11319234}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:11319234}; Peripheral membrane protein {ECO:0000269|PubMed:11319234}. Note=In a perinuclear punctate pattern. Associated with membranes and the Golgi stacks.


uniprotID: P20941
geneSymbol: PDC
name: Phosducin (PHD) (33 kDa phototransducing protein) (Protein MEKA)
length: 246
go: ENSG00000116703;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; phospholipase inhibitor activity [GO:0004859]; G protein-coupled receptor signaling pathway [GO:0007186]; phototransduction [GO:0007602]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P20941-1; Sequence=Displayed; Name=2; Synonyms=PhLOP1; IsoId=P20941-2; Sequence=VSP_043880; Name=3; IsoId=P20941-3; Sequence=VSP_053778; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10866677}. Nucleus {ECO:0000269|PubMed:10866677}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:P19632}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P19632}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:10866677}.


uniprotID: Q9P1Y6
geneSymbol: PHRF1
name: PHD and RING finger domain-containing protein 1
length: 1649
go: ENSG00000070047;
snps: rs7116027 rs7123948 rs11246212
sequence:

opentargets:
membrane [GO:0016020]; metal ion binding [GO:0046872]; protein domain specific binding [GO:0019904]; RNA polymerase binding [GO:0070063]; mRNA processing [GO:0006397]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P1Y6-1; Sequence=Displayed; Name=2; IsoId=Q9P1Y6-2; Sequence=VSP_023247, VSP_023248; Note=No experimental confirmation available.; Name=3; IsoId=Q9P1Y6-3; Sequence=VSP_039187; 


uniprotID: P61457
geneSymbol: PCBD1
reactome: R-HSA-71182;
length: 104
go: ENSG00000166228;
snps: rs121913014 rs104894177 rs115117837 rs397518416
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic and/or nuclear.
name:
Pterin-4-alpha-carbinolamine dehydratase (PHS) (EC 4.2.1.96) (4-alpha-hydroxy-tetrahydropterin dehydratase) (Dimerization cofactor of hepatocyte nuclear factor 1-alpha) (DCoH) (Dimerization cofactor of HNF1) (Phenylalanine hydroxylase-stimulating protein) (Pterin carbinolamine dehydratase) (PCD)

sequence:
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4-alpha-hydroxytetrahydrobiopterin dehydratase activity [GO:0008124]; identical protein binding [GO:0042802]; phenylalanine 4-monooxygenase activity [GO:0004505]; transcription coactivator activity [GO:0003713]; L-phenylalanine catabolic process [GO:0006559]; positive regulation of transcription, DNA-templated [GO:0045893]; protein heterooligomerization [GO:0051291]; protein homotetramerization [GO:0051289]; regulation of protein homodimerization activity [GO:0043496]; tetrahydrobiopterin biosynthetic process [GO:0006729]


uniprotID: Q99453
geneSymbol: PHOX2B
length: 314
go: ENSG00000109132;
snps: rs104893855 rs28939716 rs104893856
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
Paired mesoderm homeobox protein 2B (Neuroblastoma Phox) (NBPhox) (PHOX2B homeodomain protein) (Paired-like homeobox 2B)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; 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]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; autonomic nervous system development [GO:0048483]; brainstem development [GO:0003360]; cell differentiation in hindbrain [GO:0021533]; cellular response to BMP stimulus [GO:0071773]; dopaminergic neuron differentiation [GO:0071542]; efferent axon development in a lateral line nerve [GO:0048894]; enteric nervous system development [GO:0048484]; glial cell differentiation [GO:0010001]; hindbrain tangential cell migration [GO:0021934]; inner ear development [GO:0048839]; medullary reticular formation development [GO:0021723]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron differentiation [GO:0045665]; neural crest cell migration involved in autonomic nervous system development [GO:1901166]; neuron migration [GO:0001764]; noradrenergic neuron development [GO:0003358]; noradrenergic neuron differentiation [GO:0003357]; parasympathetic nervous system development [GO:0048486]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression [GO:0010468]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; respiratory system development [GO:0060541]; retrotrapezoid nucleus neuron differentiation [GO:0061452]; skeletal muscle cell differentiation [GO:0035914]; sympathetic ganglion development [GO:0061549]; sympathetic nervous system development [GO:0048485]


uniprotID: Q5T9C9
geneSymbol: PIP5KL1
length: 394
go: ENSG00000167103;
name:
Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 (PI(4)P 5-kinase-like protein 1) (PtdIns(4)P-5-kinase-like protein 1) (EC 2.7.1.68)

sequence:

opentargets:
cell projection [GO:0042995]; cytosol [GO:0005829]; membrane [GO:0016020]; 1-phosphatidylinositol-4-phosphate 5-kinase activity [GO:0016308]; ATP binding [GO:0005524]; negative regulation of cell migration [GO:0030336]; negative regulation of protein phosphorylation [GO:0001933]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T9C9-1; Sequence=Displayed; Name=2; IsoId=Q5T9C9-2; Sequence=VSP_024904; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=Localized to large cytoplasmic vesicular structures. {ECO:0000250}.


uniprotID: Q15735
geneSymbol: INPP5J
reactome: R-HSA-1660499;R-HSA-1855183;R-HSA-1855204;
length: 1006
go: ENSG00000185133;
snps: rs12485025
name:
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase J)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; growth cone [GO:0030426]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; inositol-polyphosphate 5-phosphatase activity [GO:0004445]; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity [GO:0034485]; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [GO:0004439]; SH3 domain binding [GO:0017124]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; negative regulation of microtubule polymerization [GO:0031115]; negative regulation of neuron projection development [GO:0010977]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15735-1; Sequence=Displayed; Name=2; IsoId=Q15735-2; Sequence=VSP_007296; Name=3; IsoId=Q15735-3; Sequence=VSP_021017; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Predominantly localized to membrane ruffles. {ECO:0000250}.


uniprotID: Q9UBF8
geneSymbol: PI4KB
reactome: R-HSA-1660514;
pdb: 2N73;4D0L;4D0M;4WAE;4WAG;5C46;5C4G;5EUQ;5FBL;5FBQ;5FBR;5FBV;5FBW;5LX2;5NAS;6GL3;
length: 816
go: ENSG00000143393;
name:
Phosphatidylinositol 4-kinase beta (PI4K-beta) (PI4Kbeta) (PtdIns 4-kinase beta) (EC 2.7.1.67) (NPIK) (PI4K92)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; perinuclear region of cytoplasm [GO:0048471]; rough endoplasmic reticulum membrane [GO:0030867]; 1-phosphatidylinositol 4-kinase activity [GO:0004430]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-mediated signaling [GO:0048015]; receptor-mediated endocytosis [GO:0006898]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:9405935}; Synonyms=NPIK-B {ECO:0000269|PubMed:9405935}; IsoId=Q9UBF8-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9405935}; Synonyms=NPIK-C {ECO:0000269|PubMed:9405935}; IsoId=Q9UBF8-2; Sequence=VSP_050627; Name=3; IsoId=Q9UBF8-3; Sequence=VSP_037133; 

location:
SUBCELLULAR LOCATION: Endomembrane system. Mitochondrion outer membrane; Peripheral membrane protein. Rough endoplasmic reticulum membrane; Peripheral membrane protein. Golgi apparatus. Golgi apparatus membrane {ECO:0000269|PubMed:27009356}. Cytoplasm, perinuclear region. Note=Found in the outer membrane of mitochondria and membranes of the rough endoplasmic reticulum. Recruited to the Golgi complex by the small GTPase ARF to stimulate the synthesis of phosphatidylinositol 4,5-bisphosphate (PIP2) on the Golgi complex. Recruited to the Golgi apparatus membrane by ACBD3. {ECO:0000269|PubMed:27009356}.


uniprotID: O75928
geneSymbol: PIAS2
reactome: R-HSA-3108214;R-HSA-3232118;R-HSA-3232142;R-HSA-3899300;R-HSA-4090294;R-HSA-4551638;R-HSA-5617472;
pdb: 2ASQ;4FO9;
length: 621
go: ENSG00000078043;
snps: rs16940108
name:
E3 SUMO-protein ligase PIAS2 (EC 2.3.2.-) (Androgen receptor-interacting protein 3) (ARIP3) (DAB2-interacting protein) (DIP) (E3 SUMO-protein transferase PIAS2) (Msx-interacting zinc finger protein) (Miz1) (PIAS-NY protein) (Protein inhibitor of activated STAT x) (Protein inhibitor of activated STAT2)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; androgen receptor binding [GO:0050681]; DNA binding [GO:0003677]; SUMO ligase activity [GO:0061665]; SUMO transferase activity [GO:0019789]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; androgen receptor signaling pathway [GO:0030521]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; positive regulation of transcription, DNA-templated [GO:0045893]; protein sumoylation [GO:0016925]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=PIAS2-beta; Synonyms=PIASx-beta, Miz1; IsoId=O75928-1; Sequence=Displayed; Name=PIAS2-alpha; Synonyms=PIASx-alpha, ARIP3; IsoId=O75928-2; Sequence=VSP_050008, VSP_050009; Name=3; IsoId=O75928-3; Sequence=VSP_012196, VSP_012197; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250|UniProtKB:Q8C5D8}. Nucleus, PML body {ECO:0000269|PubMed:12716907, ECO:0000269|PubMed:22406621}. Nucleus {ECO:0000269|PubMed:11477070, ECO:0000269|PubMed:12393906}. Note=Colocalizes at least partially with promyelocytic leukemia nuclear bodies (PML NBs) (PubMed:22406621). Colocalizes with SUMO1 in nuclear granules (By similarity). {ECO:0000250|UniProtKB:Q8C5D8, ECO:0000269|PubMed:22406621}.


uniprotID: Q9H611
geneSymbol: PIF1
pdb: 5FHH;
length: 641
go: ENSG00000140451;
snps: rs17802279
name:
ATP-dependent DNA helicase PIF1 (EC 3.6.4.12) (DNA repair and recombination helicase PIF1) (PIF1/RRM3 DNA helicase-like protein)

sequence:

opentargets:
mitochondrion [GO:0005739]; nuclear chromosome, telomeric region [GO:0000784]; replication fork [GO:0005657]; ATP binding [GO:0005524]; ATP-dependent 5'-3' DNA helicase activity [GO:0043141]; ATP-dependent 5'-3' DNA/RNA helicase activity [GO:0033682]; G-quadruplex DNA binding [GO:0051880]; magnesium ion binding [GO:0000287]; single-stranded DNA-dependent ATP-dependent DNA helicase activity [GO:0017116]; telomerase inhibitor activity [GO:0010521]; telomeric DNA binding [GO:0042162]; DNA duplex unwinding [GO:0032508]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; mitochondrial genome maintenance [GO:0000002]; negative regulation of telomerase activity [GO:0051974]; negative regulation of telomere maintenance via telomerase [GO:0032211]; regulation of telomere maintenance [GO:0032204]; telomere maintenance [GO:0000723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; Synonyms=Isoform alpha; IsoId=Q9H611-1; Sequence=Displayed; Name=2; IsoId=Q9H611-2; Sequence=VSP_026715, VSP_026716; Name=3; Synonyms=Isoform beta; IsoId=Q9H611-3; Sequence=VSP_026717; Name=4; IsoId=Q9H611-4; Sequence=VSP_047457; Note=Produced by alternative initiation of isoform 1.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03176, ECO:0000269|PubMed:16522649, ECO:0000269|PubMed:17172855, ECO:0000269|PubMed:17827721}.; SUBCELLULAR LOCATION: Isoform 4: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03176, ECO:0000269|PubMed:23275553}.


uniprotID: Q07326
geneSymbol: PIGF
reactome: R-HSA-162710;
name: Phosphatidylinositol-glycan biosynthesis class F protein (PIG-F) (GPI11 homolog)
length: 219
go: ENSG00000151665;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ethanolaminephosphotransferase activity [GO:0004307]; GPI anchor biosynthetic process [GO:0006506]; preassembly of GPI anchor in ER membrane [GO:0016254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07326-1; Sequence=Displayed; Name=2; IsoId=Q07326-2; Sequence=VSP_004361; Note=No experimental confirmation available.; 

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


uniprotID: Q9H490
geneSymbol: PIGU
reactome: R-HSA-162791;
length: 435
go: ENSG00000101464;
name:
Phosphatidylinositol glycan anchor biosynthesis class U protein (Cell division cycle protein 91-like 1) (Protein CDC91-like 1) (GPI transamidase component PIG-U)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; GPI-anchor transamidase complex [GO:0042765]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; plasma membrane [GO:0005886]; attachment of GPI anchor to protein [GO:0016255]; GPI anchor biosynthetic process [GO:0006506]; regulation of JAK-STAT cascade [GO:0046425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H490-1; Sequence=Displayed; Name=2; IsoId=Q9H490-2; Sequence=VSP_009543; Note=No experimental confirmation available.; 

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


uniprotID: Q86VD9
geneSymbol: PIGZ
reactome: R-HSA-162710;
length: 579
go: ENSG00000119227;
snps: rs574365 rs4916589 rs1147238 rs17855662
name:
GPI mannosyltransferase 4 (EC 2.4.1.-) (GPI mannosyltransferase IV) (GPI-MT-IV) (Phosphatidylinositol-glycan biosynthesis class Z protein) (PIG-Z) (SMP3 homolog) (hSMP3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; alpha-1,2-mannosyltransferase activity [GO:0000026]; mannosyltransferase activity [GO:0000030]; GPI anchor biosynthetic process [GO:0006506]; preassembly of GPI anchor in ER membrane [GO:0016254]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15208306}; Multi-pass membrane protein {ECO:0000269|PubMed:15208306}.


uniprotID: Q8WWB5
geneSymbol: PIH1D2
name: PIH1 domain-containing protein 2
length: 315
go: ENSG00000150773;
snps: rs1425917
sequence:

opentargets:
cytoplasm [GO:0005737]; R2TP complex [GO:0097255]; Ral GTPase binding [GO:0017160]; box C/D snoRNP assembly [GO:0000492]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWB5-1; Sequence=Displayed; Name=2; IsoId=Q8WWB5-2; Sequence=VSP_054022, VSP_054025; Name=3; IsoId=Q8WWB5-3; Sequence=VSP_054023, VSP_054024; Note=May be due to a competing donor splice site. No experimental confirmation available.; 


uniprotID: Q86V86
geneSymbol: PIM3
name: Serine/threonine-protein kinase pim-3 (EC 2.7.11.1)
length: 326
go: ENSG00000198355;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17876606}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; negative regulation of apoptotic process [GO:0043066]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of mitotic cell cycle [GO:0007346]


uniprotID: Q9BSJ6
geneSymbol: PIMREG
length: 248
go: ENSG00000129195;
opentargets: nucleolus [GO:0005730]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]
snps: rs16955870
name:
Protein PIMREG (CALM-interactor expressed in thymus and spleen) (PICALM-interacting mitotic regulator) (Regulator of chromosome segregation protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSJ6-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ6-2; Sequence=VSP_023997; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16491119, ECO:0000269|PubMed:19383357}. Nucleus, nucleolus {ECO:0000269|PubMed:19383357}. Note=Partially localizes to the nucleolus. {ECO:0000269|PubMed:19383357}.


uniprotID: Q00169
geneSymbol: PITPNA
reactome: R-HSA-418890;R-HSA-8950505;
pdb: 1UW5;
length: 270
go: ENSG00000174238;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Phosphatidylinositol transfer protein alpha isoform (PI-TP-alpha) (PtdIns transfer protein alpha) (PtdInsTP alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; myelin sheath [GO:0043209]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine transporter activity [GO:0008525]; phosphatidylglycerol binding [GO:1901611]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol transporter activity [GO:0008526]; axonogenesis [GO:0007409]; interleukin-12-mediated signaling pathway [GO:0035722]; lipid metabolic process [GO:0006629]; phospholipid transport [GO:0015914]; visual perception [GO:0007601]


uniprotID: P48739
geneSymbol: PITPNB
reactome: R-HSA-1483196;
length: 271
go: ENSG00000180957;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus {ECO:0000250}.
name:
Phosphatidylinositol transfer protein beta isoform (PI-TP-beta) (PtdIns transfer protein beta) (PtdInsTP beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine transporter activity [GO:0008525]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol transporter activity [GO:0008526]; lipid metabolic process [GO:0006629]; nucleus organization [GO:0006997]; phospholipid transport [GO:0015914]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48739-1; Sequence=Displayed; Name=2; IsoId=P48739-2; Sequence=VSP_012762; Name=3; IsoId=P48739-3; Sequence=VSP_055132; 


uniprotID: P28069
geneSymbol: POU1F1
pdb: 5WC9;
name: Pituitary-specific positive transcription factor 1 (PIT-1) (Growth hormone factor 1) (GHF-1)
length: 291
go: ENSG00000064835;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26612202}.
sequence:

opentargets:
chromatin [GO:0000785]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; transcription coactivator activity [GO:0003713]; B cell differentiation [GO:0030183]; cell fate specification [GO:0001708]; determination of adult lifespan [GO:0008340]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of inositol trisphosphate biosynthetic process [GO:0032962]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of insulin-like growth factor receptor signaling pathway [GO:0043567]; regulation of transcription, DNA-templated [GO:0006355]; somatotropin secreting cell development [GO:0060133]; transcription by RNA polymerase II [GO:0006366]

snps:
rs1051612 rs35182189 rs104893757 rs104893761 rs104893759 rs104893756 rs104893765 rs1207179169 rs104893766 rs104893758 rs1131815 rs104893764 rs104893762 rs780359925 rs104893755 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=B; Synonyms=Pit-1B, GHF-1; IsoId=P28069-1; Sequence=Displayed; Name=A; Synonyms=Pit-1A, GHF-2; IsoId=P28069-2; Sequence=VSP_002314; Note=Altered in its ability to trans-activate compared to isoform B.; 


uniprotID: Q9UKF7
geneSymbol: PITPNC1
length: 332
go: ENSG00000154217;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10531358}.
name:
Cytoplasmic phosphatidylinositol transfer protein 1 (Mammalian rdgB homolog beta) (M-rdgB beta) (MrdgBbeta) (Retinal degeneration B homolog beta) (RdgBbeta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; phosphatidic acid binding [GO:0070300]; phosphatidylglycerol binding [GO:1901611]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol transporter activity [GO:0008526]; phospholipid transport [GO:0015914]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKF7-1; Sequence=Displayed; Name=2; IsoId=Q9UKF7-2; Sequence=VSP_025545; Note=No experimental confirmation available.; 


uniprotID: Q9BZ71
geneSymbol: PITPNM3
reactome: R-HSA-1483226;
length: 974
go: ENSG00000091622;
snps: rs28493751 rs3809835 rs76024428
location: SUBCELLULAR LOCATION: Endomembrane system {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.
name:
Membrane-associated phosphatidylinositol transfer protein 3 (Phosphatidylinositol transfer protein, membrane-associated 3) (PITPnm 3) (Pyk2 N-terminal domain-interacting receptor 1) (NIR-1)

sequence:

opentargets:
cell body [GO:0044297]; cell projection [GO:0042995]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; lipid binding [GO:0008289]; phosphatidylinositol transporter activity [GO:0008526]; phospholipase activity [GO:0004620]; receptor tyrosine kinase binding [GO:0030971]; ER to Golgi vesicle-mediated transport [GO:0006888]; phosphatidylinositol biosynthetic process [GO:0006661]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZ71-1; Sequence=Displayed; Name=2; IsoId=Q9BZ71-2; Sequence=VSP_017965; Note=No experimental confirmation available. May be due to an intron retention.; Name=3; IsoId=Q9BZ71-3; Sequence=VSP_046060; Note=No experimental confirmation available.; 


uniprotID: Q9NZM6
geneSymbol: PKD2L2
name: Polycystic kidney disease 2-like 2 protein (Polycystin-2L2) (Polycystin-L2)
length: 624
go: ENSG00000078795;
snps: rs1880458 rs12187140
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9NZM6-1; Sequence=Displayed; Name=2; Synonyms=PKD2L2b; IsoId=Q9NZM6-2; Sequence=VSP_004732, VSP_004735; Name=3; Synonyms=PKD2L2a; IsoId=Q9NZM6-3; Sequence=VSP_004736, VSP_004737; Name=4; Synonyms=PKD2L2c; IsoId=Q9NZM6-4; Sequence=VSP_004733, VSP_004734; Name=5; IsoId=Q9NZM6-5; Sequence=VSP_035775; Note=No experimental confirmation available.; Name=6; IsoId=Q9NZM6-6; Sequence=VSP_045582; Note=No experimental confirmation available.; Name=7; IsoId=Q9NZM6-7; Sequence=VSP_045581; Note=No experimental confirmation available.; 


uniprotID: Q9HB20
geneSymbol: PLEKHA3
reactome: R-HSA-1660499;
pdb: 2KCJ;2MDX;3RCP;
length: 300
go: ENSG00000116095;
name:
Pleckstrin homology domain-containing family A member 3 (PH domain-containing family A member 3) (Phosphatidylinositol-four-phosphate adapter protein 1) (FAPP-1) (Phosphoinositol 4-phosphate adapter protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; ceramide 1-phosphate binding [GO:1902387]; ceramide 1-phosphate transporter activity [GO:1902388]; lipid binding [GO:0008289]; phosphatidylinositol-4-phosphate binding [GO:0070273]; ceramide transport [GO:0035627]; ER to Golgi ceramide transport [GO:0035621]; intermembrane lipid transfer [GO:0120009]; phosphatidylinositol biosynthetic process [GO:0006661]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:15107860}; Peripheral membrane protein {ECO:0000269|PubMed:15107860}.


uniprotID: Q9H4M7
geneSymbol: PLEKHA4
reactome: R-HSA-1660499;
pdb: 1UPQ;1UPR;
length: 779
go: ENSG00000105559;
snps: rs506425 rs12460394 rs34460869 rs35965411
name:
Pleckstrin homology domain-containing family A member 4 (PH domain-containing family A member 4) (Phosphoinositol 3-phosphate-binding protein 1) (PEPP-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol biosynthetic process [GO:0006661]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4M7-1; Sequence=Displayed; Name=2; IsoId=Q9H4M7-2; Sequence=VSP_009770, VSP_009771, VSP_009772; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.


uniprotID: P42336
geneSymbol: PIK3CA
length: 1068
go: ENSG00000121879;
drug: DB00201;DB05240;DB05241;
reactome:
R-HSA-109704;R-HSA-112399;R-HSA-114604;R-HSA-1236382;R-HSA-1250342;R-HSA-1257604;R-HSA-1433557;R-HSA-1660499;R-HSA-180292;R-HSA-1839117;R-HSA-186763;R-HSA-1963642;R-HSA-198203;R-HSA-202424;R-HSA-2029485;R-HSA-210993;R-HSA-2219530;R-HSA-2424491;R-HSA-2730905;R-HSA-373753;R-HSA-388841;R-HSA-389357;R-HSA-416476;R-HSA-416482;R-HSA-4420097;R-HSA-512988;R-HSA-5637810;R-HSA-5654689;R-HSA-5654695;R-HSA-5654710;R-HSA-5654720;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-6811558;R-HSA-8851907;R-HSA-8853334;R-HSA-8853338;R-HSA-8853659;R-HSA-9028335;R-HSA-912526;R-HSA-912631;R-HSA-9603381;

pdb:
2ENQ;2RD0;3HHM;3HIZ;3ZIM;4JPS;4L1B;4L23;4L2Y;4OVU;4OVV;4TUU;4TV3;4WAF;4YKN;4ZOP;5DXH;5DXT;5FI4;5ITD;5SW8;5SWG;5SWO;5SWP;5SWR;5SWT;5SX8;5SX9;5SXA;5SXB;5SXC;5SXD;5SXE;5SXF;5SXI;5SXJ;5SXK;5UBR;5UK8;5UKJ;5UL1;5XGH;5XGI;5XGJ;

name:
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform (PI3-kinase subunit alpha) (PI3K-alpha) (PI3Kalpha) (PtdIns-3-kinase subunit alpha) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha) (PtdIns-3-kinase subunit p110-alpha) (p110alpha) (Phosphoinositide-3-kinase catalytic alpha polypeptide) (Serine/threonine protein kinase PIK3CA) (EC 2.7.11.1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; membrane [GO:0016020]; phosphatidylinositol 3-kinase complex [GO:0005942]; phosphatidylinositol 3-kinase complex, class IA [GO:0005943]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 1-phosphatidylinositol-4-phosphate 3-kinase activity [GO:0035005]; ATP binding [GO:0005524]; insulin receptor substrate binding [GO:0043560]; kinase activity [GO:0016301]; phosphatidylinositol 3-kinase activity [GO:0035004]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein kinase activator activity [GO:0030295]; protein serine/threonine kinase activity [GO:0004674]; adipose tissue development [GO:0060612]; angiogenesis [GO:0001525]; anoikis [GO:0043276]; axon guidance [GO:0007411]; cardiac muscle contraction [GO:0060048]; cell migration [GO:0016477]; cellular response to glucose stimulus [GO:0071333]; cytokine-mediated signaling pathway [GO:0019221]; endothelial cell migration [GO:0043542]; energy homeostasis [GO:0097009]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose metabolic process [GO:0006006]; hypomethylation of CpG island [GO:0044029]; insulin receptor signaling pathway via phosphatidylinositol 3-kinase [GO:0038028]; leukocyte migration [GO:0050900]; liver development [GO:0001889]; negative regulation of anoikis [GO:2000811]; negative regulation of fibroblast apoptotic process [GO:2000270]; negative regulation of macroautophagy [GO:0016242]; negative regulation of neuron apoptotic process [GO:0043524]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol phosphorylation [GO:0046854]; phosphatidylinositol-3-phosphate biosynthetic process [GO:0036092]; phosphatidylinositol-mediated signaling [GO:0048015]; phosphorylation [GO:0016310]; platelet activation [GO:0030168]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of TOR signaling [GO:0032008]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; regulation of cellular respiration [GO:0043457]; regulation of gene expression [GO:0010468]; regulation of genetic imprinting [GO:2000653]; regulation of multicellular organism growth [GO:0040014]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; vasculature development [GO:0001944]

snps:
rs772110575 rs1051399 rs1057519929 rs121913287 rs1057519930 rs863225460 rs587777790 rs587777791 rs587777792 rs1051407 rs587777793 rs1064793732 rs397514565 rs587777794 rs2230461 rs121913272 rs1057519925 rs121913273 rs1057519927 rs121913274 rs121913274 rs104886003 rs121913286 rs121913286 rs397517201 rs867262025 rs587776932 rs121913288 rs397517202 rs1242945375 rs121913283 rs121913279 rs121913279 rs121913281 rs121913277 


uniprotID: Q5SXH7
geneSymbol: PLEKHS1
length: 462
snps: rs34024791
name:
Pleckstrin homology domain-containing family S member 1 (PH domain-containing family S member 1) (Epididymis luminal protein 185) (hEL185)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5SXH7-1; Sequence=Displayed; Name=2; IsoId=Q5SXH7-2; Sequence=VSP_031729; Name=3; IsoId=Q5SXH7-3; Sequence=VSP_031727, VSP_031729; Name=4; IsoId=Q5SXH7-4; Sequence=VSP_031728, VSP_031730; Name=5; IsoId=Q5SXH7-5; Sequence=VSP_031729, VSP_031731; 


uniprotID: Q8TC59
geneSymbol: PIWIL2
reactome: R-HSA-5601884;
pdb: 3O7X;3QIR;
name: Piwi-like protein 2 (EC 3.1.26.-) (Cancer/testis antigen 80) (CT80)
length: 973
go: ENSG00000197181;
sequence:

opentargets:
chromatoid body [GO:0033391]; cytoplasm [GO:0005737]; dense body [GO:0097433]; nucleus [GO:0005634]; P granule [GO:0043186]; perinucleolar chromocenter [GO:0010370]; PET complex [GO:1990923]; pi-body [GO:0071546]; endoribonuclease activity [GO:0004521]; metal ion binding [GO:0046872]; mRNA binding [GO:0003729]; piRNA binding [GO:0034584]; polysome binding [GO:1905538]; DNA methylation involved in gamete generation [GO:0043046]; gene silencing by RNA [GO:0031047]; germ-line stem cell population maintenance [GO:0030718]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; negative regulation of transposition [GO:0010529]; oogenesis [GO:0048477]; piRNA biosynthetic process [GO:1990511]; piRNA metabolic process [GO:0034587]; positive regulation of histone H3-K14 acetylation [GO:0071442]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of meiosis I [GO:0060903]; positive regulation of translation [GO:0045727]; RNA 5'-end processing [GO:0000966]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TC59-1; Sequence=Displayed; Name=2; IsoId=Q8TC59-2; Sequence=VSP_036664; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8CDG1}. Note=Present in chromatoid body. Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:Q8CDG1}.


uniprotID: Q7Z3Z3
geneSymbol: PIWIL3
name: Piwi-like protein 3
length: 882
go: ENSG00000184571;
snps: rs61083377 rs1475853 rs1892722 rs1892723 rs11703684 rs738826
sequence:

opentargets:
cytoplasm [GO:0005737]; RNA binding [GO:0003723]; cell differentiation [GO:0030154]; gene silencing by RNA [GO:0031047]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; regulation of translation [GO:0006417]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Note=Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:Q9JMB7}.


uniprotID: O43164
geneSymbol: PJA2
reactome: R-HSA-983168;
length: 708
go: ENSG00000198961;
snps: rs35224970 rs1045706 rs246105
name:
E3 ubiquitin-protein ligase Praja-2 (Praja2) (EC 2.3.2.27) (RING finger protein 131) (RING-type E3 ubiquitin transferase Praja-2)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; intermediate filament cytoskeleton [GO:0045111]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; metal ion binding [GO:0046872]; protein kinase A catalytic subunit binding [GO:0034236]; protein kinase A regulatory subunit binding [GO:0034237]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; hippo signaling [GO:0035329]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; long-term memory [GO:0007616]; positive regulation of JNK cascade [GO:0046330]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of toll-like receptor 2 signaling pathway [GO:0034137]; protein ubiquitination [GO:0016567]; regulation of macrophage activation [GO:0043030]; regulation of protein kinase A signaling [GO:0010738]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43164-1; Sequence=Displayed; Name=2; IsoId=O43164-2; Sequence=VSP_023198; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21423175}. Cell membrane {ECO:0000269|PubMed:21423175}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:21423175}; Peripheral membrane protein {ECO:0000269|PubMed:21423175}. Golgi apparatus membrane {ECO:0000269|PubMed:21423175}; Peripheral membrane protein {ECO:0000269|PubMed:21423175}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Note=Localizes at the cytoplasmic side of endoplasmic reticulum and Golgi apparatus. Expressed in the postsynaptic density region of synapses (By similarity). Colocalizes with PRKAR2A and PRKAR2B in the cytoplasm and the cell membrane. {ECO:0000250}.


uniprotID: Q9H875
geneSymbol: PRKRIP1
pdb: 5XJC;
name: PRKR-interacting protein 1
length: 184
go: ENSG00000128563;
snps: rs6951185 rs11556160
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:
MASPAASSVRPPRPKKEPQTLVIPKNAAEEQKLKLERLMKNPDKAVPIPEKMSEWAPRPPPEFVRDVMGSSAGAGSGEFHVYRHLRRREYQRQDYMDAMAEKQKLDAEFQKRLEKNKIAAEEQTAKRRKKRQKLKEKKLLAKKMKLEQKKQEGPGQPKEQGSSSSAEASGTEEEEEVPSFTMGR

opentargets:
extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; double-stranded RNA binding [GO:0003725]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; negative regulation of phosphorylation [GO:0042326]; negative regulation of protein kinase activity [GO:0006469]; renal system process [GO:0003014]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H875-1; Sequence=Displayed; Name=2; IsoId=Q9H875-2; Sequence=VSP_056088, VSP_056089; Note=No experimental confirmation available.; 


uniprotID: P16885
geneSymbol: PLCG2
pdb: 2K2J;2W2W;2W2X;
length: 1265
go: ENSG00000197943;
snps: rs11548656 rs1143687 rs11548657 rs1057519831 rs397514562 rs1057519832 rs17856213
reactome:
R-HSA-114604;R-HSA-166016;R-HSA-1855204;R-HSA-2029485;R-HSA-2424491;R-HSA-2871796;R-HSA-2871809;R-HSA-5607764;R-HSA-5621480;R-HSA-983695;

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

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; phosphotyrosine residue binding [GO:0001784]; activation of store-operated calcium channel activity [GO:0032237]; B cell differentiation [GO:0030183]; B cell receptor signaling pathway [GO:0050853]; calcium-mediated signaling [GO:0019722]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; follicular B cell differentiation [GO:0002316]; inositol phosphate metabolic process [GO:0043647]; inositol trisphosphate biosynthetic process [GO:0032959]; negative regulation of programmed cell death [GO:0043069]; phosphatidylinositol biosynthetic process [GO:0006661]; phospholipid catabolic process [GO:0009395]; platelet activation [GO:0030168]; positive regulation of receptor internalization [GO:0002092]; positive regulation of type I interferon production [GO:0032481]; regulation of gene expression [GO:0010468]; release of sequestered calcium ion into cytosol [GO:0051209]; response to lipopolysaccharide [GO:0032496]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell receptor signaling pathway [GO:0050852]; Wnt signaling pathway [GO:0016055]


uniprotID: Q15147
geneSymbol: PLCB4
reactome: R-HSA-112043;R-HSA-1855204;R-HSA-416476;
length: 1175
go: ENSG00000101333;
snps: rs6077510 rs387907179 rs397514482 rs397514481 rs397514480 rs397514483 rs6118603
name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-4) (Phospholipase C-beta-4) (PLC-beta-4)

sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; parallel fiber to Purkinje cell synapse [GO:0098688]; postsynaptic density [GO:0014069]; smooth endoplasmic reticulum [GO:0005790]; calcium ion binding [GO:0005509]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; modulation of chemical synaptic transmission [GO:0050804]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=2; IsoId=Q15147-1; Sequence=Displayed; Name=1; IsoId=Q15147-2; Sequence=VSP_004721, VSP_004722; Name=3; IsoId=Q15147-4; Sequence=VSP_037818; Note=No experimental confirmation available.; Name=4; IsoId=Q15147-5; Sequence=VSP_055182; Note=No experimental confirmation available.; 


uniprotID: Q15111
geneSymbol: PLCL1
length: 1095
go: ENSG00000115896;
drug: DB01103;
snps: rs45506698 rs45506696 rs45596936 rs1064213 rs6741084 rs45452996
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Inactive phospholipase C-like protein 1 (PLC-L1) (Phospholipase C-deleted in lung carcinoma) (Phospholipase C-related but catalytically inactive protein) (PRIP)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; GABA receptor binding [GO:0050811]; inositol 1,4,5 trisphosphate binding [GO:0070679]; phosphatidylinositol phospholipase C activity [GO:0004435]; phospholipase C activity [GO:0004629]; gamma-aminobutyric acid signaling pathway [GO:0007214]; intracellular signal transduction [GO:0035556]; lipid metabolic process [GO:0006629]; negative regulation of cold-induced thermogenesis [GO:0120163]; positive regulation of receptor binding [GO:1900122]; regulation of peptidyl-serine phosphorylation [GO:0033135]; regulation of synaptic transmission, GABAergic [GO:0032228]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15111-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q15111-2; Sequence=VSP_031475; 


uniprotID: Q63HM9
geneSymbol: PLCXD3
name: PI-PLC X domain-containing protein 3
length: 321
go: ENSG00000182836;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22732399}.
sequence:

opentargets:
cytoplasm [GO:0005737]; phosphoric diester hydrolase activity [GO:0008081]; lipid catabolic process [GO:0016042]; signal transduction [GO:0007165]


uniprotID: Q8IUK5
geneSymbol: PLXDC1
name: Plexin domain-containing protein 1 (Tumor endothelial marker 3) (Tumor endothelial marker 7)
length: 500
go: ENSG00000161381;
snps: rs75117355
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; angiogenesis [GO:0001525]; spinal cord development [GO:0021510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=TEM7-M; IsoId=Q8IUK5-1; Sequence=Displayed; Name=2; Synonyms=TEM7-S1; IsoId=Q8IUK5-2; Sequence=VSP_017972, VSP_017974; Name=3; Synonyms=TEM7-S2; IsoId=Q8IUK5-3; Sequence=VSP_017971, VSP_017973; Name=4; Synonyms=TEM7-I; IsoId=Q8IUK5-4; Sequence=VSP_017970, VSP_017972; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Cell junction, tight junction. Note=Localized predominantly at the tight junctions of vascular endothelial cells and to a lesser extent at the luminal surface of vascular endothelial cells.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000305}.


uniprotID: Q9HAT8
geneSymbol: PELI2
reactome: R-HSA-9020702;R-HSA-937039;R-HSA-975144;
pdb: 3EGA;3EGB;
length: 420
go: ENSG00000139946;
name:
E3 ubiquitin-protein ligase pellino homolog 2 (Pellino-2) (EC 2.3.2.27) (RING-type E3 ubiquitin transferase pellino homolog 2)

sequence:

opentargets:
cytosol [GO:0005829]; protein serine/threonine kinase activity [GO:0004674]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-ubiquitin ligase activity [GO:0034450]; interleukin-1-mediated signaling pathway [GO:0070498]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of protein phosphorylation [GO:0001934]; protein polyubiquitination [GO:0000209]; Toll signaling pathway [GO:0008063]


uniprotID: Q96BW5
geneSymbol: PTER
name: Phosphotriesterase-related protein (EC 3.1.-.-) (Parathion hydrolase-related protein) (hPHRP)
length: 349
go: ENSG00000165983;
snps: rs36023740
sequence:

opentargets:
extracellular exosome [GO:0070062]; hydrolase activity, acting on ester bonds [GO:0016788]; zinc ion binding [GO:0008270]; catabolic process [GO:0009056]; epithelial cell differentiation [GO:0030855]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BW5-1; Sequence=Displayed; Name=2; IsoId=Q96BW5-2; Sequence=VSP_038342; Note=No experimental confirmation available.; 


uniprotID: Q7RTS3
geneSymbol: PTF1A
reactome: R-HSA-210747;
length: 328
go: ENSG00000168267;
snps: rs7918487
name:
Pancreas transcription factor 1 subunit alpha (Class A basic helix-loop-helix protein 29) (bHLHa29) (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48) (p48 DNA-binding subunit of transcription factor PTF1) (PTF1-p48)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; amacrine cell differentiation [GO:0035881]; cerebellum development [GO:0021549]; exocrine pancreas development [GO:0031017]; neuron fate commitment [GO:0048663]; pancreas development [GO:0031016]; regulation of neural retina development [GO:0061074]; regulation of transcription, DNA-templated [GO:0006355]; retina layer formation [GO:0010842]; retinoic acid receptor signaling pathway [GO:0048384]; tissue development [GO:0009888]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}. Cytoplasm {ECO:0000250}. Note=In chronic pancreatitis associated with pancreas cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes. In the cytoplasm loses its ability to form the PTF1 complex (By similarity). {ECO:0000250}.


uniprotID: Q96FX8
geneSymbol: PERP
reactome: R-HSA-6803205;R-HSA-6809371;
length: 193
go: ENSG00000112378;
snps: rs648802 rs75183345
name:
p53 apoptosis effector related to PMP-22 (Keratinocyte-associated protein 1) (KCP-1) (P53-induced protein PIGPC1) (Transmembrane protein THW)

sequence:
MIRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHGQTSSLWWKCSQEGGGSGSYEEGCQSLMEYAWGRAAAAMLFCGFIILVICFILSFFALCGPQMLVFLRVIGGLLALAAVFQIISLVIYPVKYTQTFTLHANPAVTYIYNWAYGFGWAATIILIGCAFFFCCLPNYEDDLLGNAKPRYFYTSA

opentargets:
cell junction [GO:0030054]; desmosome [GO:0030057]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; activation of cysteine-type endopeptidase activity [GO:0097202]; amelogenesis [GO:0097186]; cornification [GO:0070268]; desmosome organization [GO:0002934]; heterotypic cell-cell adhesion [GO:0034113]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; Notch signaling pathway [GO:0007219]; positive regulation of proteolysis [GO:0045862]; regulation of apoptotic process [GO:0042981]

location:
SUBCELLULAR LOCATION: Cell junction, desmosome {ECO:0000250|UniProtKB:Q9JK95}. Cell membrane {ECO:0000250|UniProtKB:Q9JK95}; Multi-pass membrane protein {ECO:0000255}. Note=Associated with desmosomes. {ECO:0000250|UniProtKB:Q9JK95}.


uniprotID: P07202
geneSymbol: TPO
reactome: R-HSA-209968;
name: Thyroid peroxidase (TPO) (EC 1.11.1.8)
length: 933
go: ENSG00000115705;
drug: DB00389;DB00509;DB00763;DB00550;
sequence:

opentargets:
cell surface [GO:0009986]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; heme binding [GO:0020037]; iodide peroxidase activity [GO:0004447]; peroxidase activity [GO:0004601]; embryonic hemopoiesis [GO:0035162]; hormone biosynthetic process [GO:0042446]; hydrogen peroxide catabolic process [GO:0042744]; response to oxidative stress [GO:0006979]; thyroid hormone generation [GO:0006590]

snps:
rs4927611 rs371367459 rs2280132 rs1297312788 rs2175977 rs1035791118 rs104893669 rs121908083 rs201165648 rs778515113 rs779434941 rs121908084 rs10189135 rs121908086 rs121908088 rs776742629 rs121908087 rs13431173 rs732609 rs138931129 rs28991293 rs121908085 rs935058009 rs146351101 rs28913014 rs1126799 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=TPO1; IsoId=P07202-1; Sequence=Displayed; Name=2; Synonyms=TPO2; IsoId=P07202-2; Sequence=VSP_004665; Note=Lacks exon 10. Found in normal thyroid tissues as well as Graves'tissues. Rapidly degraded after synthesis, does not reach the cell surface. Inactive.; Name=3; Synonyms=TPO3, Graves' disease, TPOzaninelli; IsoId=P07202-3; Sequence=VSP_004666; Note=Lacks exon 16. Found in normal thyroid tissues as well as Graves'tissues. Active.; Name=4; Synonyms=TPO4; IsoId=P07202-4; Sequence=VSP_007269; Note=Lacks exon 14. Active.; Name=5; Synonyms=TPO5; IsoId=P07202-5; Sequence=VSP_007268; Note=Lacks exon 8. Does not fold correctly. Does not reach the cell surface.; Name=6; Synonyms=TPO6; IsoId=P07202-6; Sequence=VSP_004665, VSP_007270; Note=Lacks exons 10, 12, 13, 14 and 16.; Name=2-3; IsoId=P07202-7; Sequence=VSP_004665, VSP_004666; Note=Lacks exons 10 and 16.; Name=2-4; IsoId=P07202-8; Sequence=VSP_004665, VSP_007269; Note=Lacks exons 10 and 14.; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cell surface.


uniprotID: O14684
geneSymbol: PTGES
reactome: R-HSA-2162123;
pdb: 3DWW;4AL0;4AL1;4BPM;4WAB;4YK5;4YL0;4YL1;4YL3;5BQG;5BQH;5BQI;5K0I;5T36;5T37;5TL9;
length: 152
go: ENSG00000148344;
name:
Prostaglandin E synthase (EC 5.3.99.3) (Microsomal glutathione S-transferase 1-like 1) (MGST1-L1) (Microsomal prostaglandin E synthase 1) (MPGES-1) (p53-induced gene 12 protein)

sequence:
MPAHSLVMSSPALPAFLLCSTLLVIKMYVVAIITGQVRLRKKAFANPEDALRHGGPQYCRSDPDVERCLRAHRNDMETIYPFLFLGFVYSFLGPNPFVAWMHFLVFLVGRVAHTVAYLGKLRAPIRSVTYTLAQLPCASMALQILWEAARHL

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear envelope lumen [GO:0005641]; perinuclear region of cytoplasm [GO:0048471]; glutathione binding [GO:0043295]; glutathione transferase activity [GO:0004364]; prostaglandin-E synthase activity [GO:0050220]; acute inflammatory response [GO:0002526]; chronic inflammatory response [GO:0002544]; cyclooxygenase pathway [GO:0019371]; glutathione metabolic process [GO:0006749]; negative regulation of cell proliferation [GO:0008285]; oxidation-reduction process [GO:0055114]; prostaglandin biosynthetic process [GO:0001516]; prostaglandin metabolic process [GO:0006693]; response to calcium ion [GO:0051592]; response to cytokine [GO:0034097]; response to lipopolysaccharide [GO:0032496]; response to organic cyclic compound [GO:0014070]; response to retinoic acid [GO:0032526]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18682561}; Multi-pass membrane protein {ECO:0000269|PubMed:18682561}.


uniprotID: Q16647
geneSymbol: PTGIS
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;R-HSA-197264;R-HSA-211979;R-HSA-211994;R-HSA-2162123;
pdb: 2IAG;3B6H;
name: Prostacyclin synthase (EC 5.3.99.4) (Prostaglandin I2 synthase)
length: 500
go: ENSG00000124212;
drug: DB01240;DB00812;
snps: rs1173082660 rs5622 rs5623 rs5624 rs5626 rs56195291 rs146531327 rs5584
sequence:

opentargets:
caveola [GO:0005901]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [GO:0016705]; prostaglandin-I synthase activity [GO:0008116]; apoptotic signaling pathway [GO:0097190]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-6 [GO:0071354]; cyclooxygenase pathway [GO:0019371]; decidualization [GO:0046697]; embryo implantation [GO:0007566]; icosanoid metabolic process [GO:0006690]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; negative regulation of inflammatory response [GO:0050728]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; positive regulation of angiogenesis [GO:0045766]; positive regulation of execution phase of apoptosis [GO:1900119]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; prostaglandin biosynthetic process [GO:0001516]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q29626}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q03431
geneSymbol: PTH1R
reactome: R-HSA-373080;R-HSA-418555;
pdb: 1BL1;1ET2;1ET3;3C4M;3H3G;3L2J;4Z8J;5EMB;
length: 593
go: ENSG00000160801;
drug: DB05829;DB06285;
snps: rs121434599 rs121434601 rs121434597 rs121434598 rs121434602 rs121434600
name:
Parathyroid hormone/parathyroid hormone-related peptide receptor (PTH/PTHrP type I receptor) (PTH/PTHr receptor) (Parathyroid hormone 1 receptor) (PTH1 receptor)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; brush border membrane [GO:0031526]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled peptide receptor activity [GO:0008528]; parathyroid hormone receptor activity [GO:0004991]; peptide hormone binding [GO:0017046]; protein homodimerization activity [GO:0042803]; protein self-association [GO:0043621]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; aging [GO:0007568]; bone mineralization [GO:0030282]; bone resorption [GO:0045453]; cell maturation [GO:0048469]; cell surface receptor signaling pathway [GO:0007166]; cellular calcium ion homeostasis [GO:0006874]; chondrocyte differentiation [GO:0002062]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; negative regulation of cell proliferation [GO:0008285]; osteoblast development [GO:0002076]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of inositol phosphate biosynthetic process [GO:0060732]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20172855, ECO:0000269|PubMed:8397094}; Multi-pass membrane protein {ECO:0000269|PubMed:20172855}.


uniprotID: O00623
geneSymbol: PEX12
reactome: R-HSA-8866654;R-HSA-9033241;
name: Peroxisome assembly protein 12 (Peroxin-12) (Peroxisome assembly factor 3) (PAF-3)
length: 359
go: ENSG00000108733;
snps: rs147530802 rs12941376 rs28936697
sequence:

opentargets:
integral component of peroxisomal membrane [GO:0005779]; peroxisomal importomer complex [GO:1990429]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; protein C-terminus binding [GO:0008022]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; peroxisome organization [GO:0007031]; protein import into peroxisome matrix [GO:0016558]; protein monoubiquitination [GO:0006513]; protein targeting to peroxisome [GO:0006625]; protein ubiquitination [GO:0016567]

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:9632816}; Multi-pass membrane protein {ECO:0000269|PubMed:9632816}.


uniprotID: O75381
geneSymbol: PEX14
reactome: R-HSA-8866654;R-HSA-9033241;
pdb: 2W84;2W85;4BXU;
length: 377
go: ENSG00000142655;
snps: rs12061667 rs11539793 rs12070353
name:
Peroxisomal membrane protein PEX14 (PTS1 receptor-docking protein) (Peroxin-14) (Peroxisomal membrane anchor protein PEX14)

sequence:

opentargets:
fibrillar center [GO:0001650]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; membrane [GO:0016020]; nucleus [GO:0005634]; peroxisomal importomer complex [GO:1990429]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; protein-containing complex [GO:0032991]; beta-tubulin binding [GO:0048487]; microtubule binding [GO:0008017]; protein N-terminus binding [GO:0047485]; signaling receptor binding [GO:0005102]; transcription corepressor activity [GO:0003714]; microtubule anchoring [GO:0034453]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of protein binding [GO:0032091]; negative regulation of protein homotetramerization [GO:1901094]; negative regulation of transcription, DNA-templated [GO:0045892]; peroxisome organization [GO:0007031]; peroxisome transport along microtubule [GO:0036250]; protein homooligomerization [GO:0051260]; protein import into peroxisome matrix [GO:0016558]; protein import into peroxisome matrix, docking [GO:0016560]; protein import into peroxisome matrix, substrate release [GO:0044721]; protein import into peroxisome matrix, translocation [GO:0016561]; protein targeting to peroxisome [GO:0006625]; protein ubiquitination [GO:0016567]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75381-1; Sequence=Displayed; Name=2; IsoId=O75381-2; Sequence=VSP_037021; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:19197237}; Peripheral membrane protein {ECO:0000269|PubMed:19197237}; Cytoplasmic side {ECO:0000269|PubMed:19197237}.


uniprotID: Q7Z412
geneSymbol: PEX26
reactome: R-HSA-9033241;
name: Peroxisome assembly protein 26 (Peroxin-26)
length: 305
go: ENSG00000215193;
snps: rs61752132 rs28940308 rs62641228 rs12484657
sequence:

opentargets:
integral component of peroxisomal membrane [GO:0005779]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ATPase binding [GO:0051117]; protein C-terminus binding [GO:0008022]; protein-containing complex binding [GO:0044877]; protein import into peroxisome matrix [GO:0016558]; protein import into peroxisome membrane [GO:0045046]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z412-1; Sequence=Displayed; Name=2; IsoId=Q7Z412-2; Sequence=VSP_053499; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:12717447}; Single-pass type II membrane protein {ECO:0000269|PubMed:12717447}.


uniprotID: P56589
geneSymbol: PEX3
reactome: R-HSA-1369062;
pdb: 3AJB;3MK4;
name: Peroxisomal biogenesis factor 3 (Peroxin-3) (Peroxisomal assembly protein PEX3)
length: 373
go: ENSG00000034693;
snps: rs35220041 rs1057523689
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of peroxisomal membrane [GO:0005779]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; protein-containing complex [GO:0032991]; protein-lipid complex [GO:0032994]; lipid binding [GO:0008289]; protein dimerization activity [GO:0046983]; peroxisome membrane biogenesis [GO:0016557]; peroxisome organization [GO:0007031]; protein import into peroxisome membrane [GO:0045046]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:11390669}; Multi-pass membrane protein {ECO:0000269|PubMed:11390669}.


uniprotID: P20962
geneSymbol: PTMS
name: Parathymosin
length: 102
go: ENSG00000159335;
opentargets: nucleus [GO:0005634]; DNA replication [GO:0006260]; immune system process [GO:0002376]
sequence:
MSEKSVEAAAELSAKDLKEKKEKVEEKASRKERKKEVVEEEENGAEEEEEETAEDGEEEDEGEEEDEEEEEEDDEGPALKRAAEEEDEADPKRQKTENGASA


uniprotID: Q05209
geneSymbol: PTPN12
reactome: R-HSA-1250196;R-HSA-182971;R-HSA-186797;R-HSA-8863795;R-HSA-9008059;
pdb: 5HDE;5J8R;5O2P;
length: 780
go: ENSG00000127947;
snps: rs121434623 rs9640663 rs3750050 rs2230602
name:
Tyrosine-protein phosphatase non-receptor type 12 (EC 3.1.3.48) (PTP-PEST) (Protein-tyrosine phosphatase G1) (PTPG1)

sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; podosome [GO:0002102]; non-membrane spanning protein tyrosine phosphatase activity [GO:0004726]; phosphoprotein phosphatase activity [GO:0004721]; protein tyrosine phosphatase activity [GO:0004725]; SH3 domain binding [GO:0017124]; cellular response to cytokine stimulus [GO:0071345]; cellular response to epidermal growth factor stimulus [GO:0071364]; ERBB2 signaling pathway [GO:0038128]; negative regulation of ERBB signaling pathway [GO:1901185]; negative regulation of platelet-derived growth factor receptor-beta signaling pathway [GO:2000587]; peptidyl-tyrosine dephosphorylation [GO:0035335]; protein dephosphorylation [GO:0006470]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; tissue regeneration [GO:0042246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q05209-1; Sequence=Displayed; Name=2; IsoId=Q05209-2; Sequence=VSP_046274; Note=No experimental confirmation available.; Name=3; IsoId=Q05209-3; Sequence=VSP_054168; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P35831}. Cell junction, focal adhesion {ECO:0000269|PubMed:18559503}. Cell projection, podosome {ECO:0000250|UniProtKB:P35831}. Note=Partial translocation to focal adhesion sites may be mediated by interaction with SORBS2. {ECO:0000269|PubMed:18559503}.


uniprotID: Q16825
geneSymbol: PTPN21
name: Tyrosine-protein phosphatase non-receptor type 21 (EC 3.1.3.48) (Protein-tyrosine phosphatase D1)
length: 1174
go: ENSG00000070778;
snps: rs2401751 rs12879993 rs2274736
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; protein tyrosine phosphatase activity [GO:0004725]; protein dephosphorylation [GO:0006470]


uniprotID: Q9Y2R2
geneSymbol: PTPN22
reactome: R-HSA-202427;R-HSA-202430;
pdb: 2P6X;2QCJ;2QCT;3BRH;3H2X;3OLR;3OMH;4J51;
length: 807
go: ENSG00000134242;
snps: rs7416347 rs33996649 rs72650670 rs2476601
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Tyrosine-protein phosphatase non-receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase 70Z-PEP) (Lymphoid phosphatase) (LyP) (PEST-domain phosphatase) (PEP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; kinase binding [GO:0019900]; phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; SH3 domain binding [GO:0017124]; ubiquitin protein ligase binding [GO:0031625]; autophagy [GO:0006914]; cellular response to muramyl dipeptide [GO:0071225]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; negative regulation of autophagy [GO:0010507]; negative regulation of gene expression [GO:0010629]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of interleukin-8 secretion [GO:2000483]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070433]; negative regulation of p38MAPK cascade [GO:1903753]; negative regulation of T cell activation [GO:0050868]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of tumor necrosis factor production [GO:0032720]; phosphoanandamide dephosphorylation [GO:0035644]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of interferon-gamma secretion [GO:1902715]; positive regulation of protein K63-linked ubiquitination [GO:1902523]; positive regulation of toll-like receptor 3 signaling pathway [GO:0034141]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; positive regulation of type I interferon production [GO:0032481]; protein dephosphorylation [GO:0006470]; regulation of B cell receptor signaling pathway [GO:0050855]; regulation of innate immune response [GO:0045088]; regulation of natural killer cell proliferation [GO:0032817]; regulation of NIK/NF-kappaB signaling [GO:1901222]; response to lipopolysaccharide [GO:0032496]; T cell differentiation [GO:0030217]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=LyP1; IsoId=Q9Y2R2-1; Sequence=Displayed; Name=2; Synonyms=LyP2; IsoId=Q9Y2R2-2; Sequence=VSP_005134; Note=Due to intron retention.; Name=3; IsoId=Q9Y2R2-3; Sequence=VSP_039728; Note=No experimental confirmation available.; Name=4; Synonyms=LYP3; IsoId=Q9Y2R2-4; Sequence=VSP_039729; Name=5; IsoId=Q9Y2R2-5; Sequence=VSP_039725, VSP_039726, VSP_039727; Note=No experimental confirmation available.; Name=6; Synonyms=PTPN22.6; IsoId=Q9Y2R2-6; Sequence=VSP_044428, VSP_044429; Note=Lacks most of the phosphatase domain and functions as a dominant negative isoform of the full length PTPN22.; 


uniprotID: Q9H720
geneSymbol: CWH43
name: PGAP2-interacting protein (Cell wall biogenesis protein 43 C-terminal homolog)
length: 699
go: ENSG00000109182;
opentargets: integral component of membrane [GO:0016021]; GPI anchor biosynthetic process [GO:0006506]
snps: rs3747690 rs1051447
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P26045
geneSymbol: PTPN3
reactome: R-HSA-182971;
pdb: 2B49;4QUM;4QUN;4RH5;4RH9;4RHG;4RI4;4RI5;4S0G;
length: 913
go: ENSG00000070159;
snps: rs35285139 rs3793524 rs10979858 rs7859962 rs10116806
name:
Tyrosine-protein phosphatase non-receptor type 3 (EC 3.1.3.48) (Protein-tyrosine phosphatase H1) (PTP-H1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; ATPase binding [GO:0051117]; cytoskeletal protein binding [GO:0008092]; phosphotyrosine residue binding [GO:0001784]; protein tyrosine phosphatase activity [GO:0004725]; sodium channel regulator activity [GO:0017080]; liver regeneration [GO:0097421]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of membrane protein ectodomain proteolysis [GO:0051045]; negative regulation of mitotic cell cycle [GO:0045930]; protein dephosphorylation [GO:0006470]; regulation of membrane depolarization during action potential [GO:0098902]; regulation of sodium ion transmembrane transporter activity [GO:2000649]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P26045-1; Sequence=Displayed; Name=2; IsoId=P26045-2; Sequence=VSP_046309; Note=No experimental confirmation available.; Name=3; IsoId=P26045-3; Sequence=VSP_046309, VSP_046310; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.


uniprotID: P29350
geneSymbol: PTPN6
pdb: 1FPR;1GWZ;1X6C;2B3O;2RMX;2YU7;3PS5;4GRY;4GRZ;4GS0;4HJP;4HJQ;
length: 595
go: ENSG00000111679;
reactome:
R-HSA-114604;R-HSA-1433559;R-HSA-210990;R-HSA-388841;R-HSA-389948;R-HSA-391160;R-HSA-432142;R-HSA-512988;R-HSA-5690714;R-HSA-6798695;R-HSA-877300;R-HSA-877312;R-HSA-9008059;R-HSA-909733;R-HSA-912526;R-HSA-912694;R-HSA-982772;R-HSA-983695;

name:
Tyrosine-protein phosphatase non-receptor type 6 (EC 3.1.3.48) (Hematopoietic cell protein-tyrosine phosphatase) (Protein-tyrosine phosphatase 1C) (PTP-1C) (Protein-tyrosine phosphatase SHP-1) (SH-PTP1)

sequence:

opentargets:
alpha-beta T cell receptor complex [GO:0042105]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; cell adhesion molecule binding [GO:0050839]; phosphorylation-dependent protein binding [GO:0140031]; phosphotyrosine residue binding [GO:0001784]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; transmembrane receptor protein tyrosine phosphatase activity [GO:0005001]; abortive mitotic cell cycle [GO:0033277]; apoptotic process [GO:0006915]; B cell receptor signaling pathway [GO:0050853]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cellular response to cytokine stimulus [GO:0071345]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; hematopoietic progenitor cell differentiation [GO:0002244]; intracellular signal transduction [GO:0035556]; leukocyte migration [GO:0050900]; megakaryocyte development [GO:0035855]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of B cell receptor signaling pathway [GO:0050859]; negative regulation of cell proliferation [GO:0008285]; negative regulation of humoral immune response mediated by circulating immunoglobulin [GO:0002924]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of tumor necrosis factor production [GO:0032720]; neutrophil degranulation [GO:0043312]; peptidyl-tyrosine dephosphorylation [GO:0035335]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet activation [GO:0030168]; platelet aggregation [GO:0070527]; platelet formation [GO:0030220]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell proliferation [GO:0008284]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; protein dephosphorylation [GO:0006470]; regulation of B cell differentiation [GO:0045577]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; regulation of type I interferon-mediated signaling pathway [GO:0060338]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=P29350-1; Sequence=Displayed; Name=2; IsoId=P29350-3; Sequence=VSP_007775; Name=3; Synonyms=Short; IsoId=P29350-2; Sequence=VSP_005129, VSP_005130; Name=4; Synonyms=70-kDa, SHP-1L; IsoId=P29350-4; Sequence=VSP_044447; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In neurons, translocates into the nucleus after treatment with angiotensin II (By similarity). Shuttles between the cytoplasm and nucleus via its association with PDPK1. {ECO:0000250}.


uniprotID: P35236
geneSymbol: PTPN7
reactome: R-HSA-9008059;
pdb: 1ZC0;2A3K;2GP0;2GPH;2HVL;2QDC;2QDM;2QDP;3D42;3D44;3O4S;3O4T;3O4U;
length: 360
go: ENSG00000143851;
name:
Tyrosine-protein phosphatase non-receptor type 7 (EC 3.1.3.48) (Hematopoietic protein-tyrosine phosphatase) (HEPTP) (Protein-tyrosine phosphatase LC-PTP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; protein tyrosine phosphatase activity [GO:0004725]; cellular response to cytokine stimulus [GO:0071345]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P35236-1; Sequence=Displayed; Name=2; IsoId=P35236-2; Sequence=VSP_026925; Name=3; IsoId=P35236-3; Sequence=VSP_047275; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14613483}. Cytoplasm, cytoskeleton {ECO:0000250}.


uniprotID: P43378
geneSymbol: PTPN9
reactome: R-HSA-9008059;
pdb: 2PA5;4GE2;4GE5;4GE6;4ICZ;
length: 593
go: ENSG00000169410;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Tyrosine-protein phosphatase non-receptor type 9 (EC 3.1.3.48) (Protein-tyrosine phosphatase MEG2) (PTPase MEG2)

sequence:

opentargets:
cytoplasm [GO:0005737]; neuron projection terminus [GO:0044306]; nucleoplasm [GO:0005654]; non-membrane spanning protein tyrosine phosphatase activity [GO:0004726]; protein tyrosine phosphatase activity [GO:0004725]; cellular response to cytokine stimulus [GO:0071345]; negative regulation of neuron projection development [GO:0010977]; peptidyl-tyrosine dephosphorylation [GO:0035335]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein dephosphorylation [GO:0006470]


uniprotID: P18669
geneSymbol: PGAM1
reactome: R-HSA-6798695;R-HSA-70171;R-HSA-70263;
pdb: 1LJD;1YFK;1YJX;4GPI;4GPZ;5Y2I;5Y2U;5Y35;
length: 254
go: ENSG00000171314;
name:
Phosphoglycerate mutase 1 (EC 5.4.2.11) (EC 5.4.2.4) (BPG-dependent PGAM 1) (Phosphoglycerate mutase isozyme B) (PGAM-B)

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]; secretory granule lumen [GO:0034774]; bisphosphoglycerate mutase activity [GO:0004082]; hydrolase activity [GO:0016787]; phosphoglycerate mutase activity [GO:0004619]; protein kinase binding [GO:0019901]; canonical glycolysis [GO:0061621]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; neutrophil degranulation [GO:0043312]; regulation of glycolytic process [GO:0006110]; regulation of pentose-phosphate shunt [GO:0043456]; respiratory burst [GO:0045730]


uniprotID: Q96HS1
geneSymbol: PGAM5
reactome: R-HSA-8934903;
pdb: 3MXO;3O0T;5MUF;
length: 289
go: ENSG00000247077;
name:
Serine/threonine-protein phosphatase PGAM5, mitochondrial (EC 3.1.3.16) (Bcl-XL-binding protein v68) (Phosphoglycerate mutase family member 5)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; GTPase activator activity [GO:0005096]; phosphatase activity [GO:0016791]; protein serine/threonine phosphatase activity [GO:0004722]; protein-containing complex binding [GO:0044877]; macroautophagy [GO:0016236]; necroptotic process [GO:0070266]; negative regulation of cold-induced thermogenesis [GO:0120163]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PGAM5-L; IsoId=Q96HS1-1; Sequence=Displayed; Name=2; Synonyms=PGAM5-S; IsoId=Q96HS1-2; Sequence=VSP_025761; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:18387606}; Single-pass membrane protein {ECO:0000269|PubMed:18387606}. Note=Isoform 2 overexpression results in the formation of disconnected punctuate mitochondria distributed throughout the cytoplasm. Isoform 1 overexpression results in the clustering of mitochondria around the nucleus.


uniprotID: P15259
geneSymbol: PGAM2
reactome: R-HSA-70171;R-HSA-70263;
length: 253
go: ENSG00000164708;
drug: DB04510;DB01681;
snps: rs104894030 rs104894034 rs77938727
name:
Phosphoglycerate mutase 2 (EC 5.4.2.11) (EC 5.4.2.4) (BPG-dependent PGAM 2) (Muscle-specific phosphoglycerate mutase) (Phosphoglycerate mutase isozyme M) (PGAM-M)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity [GO:0046538]; bisphosphoglycerate mutase activity [GO:0004082]; cofactor binding [GO:0048037]; hydrolase activity [GO:0016787]; phosphoglycerate mutase activity [GO:0004619]; canonical glycolysis [GO:0061621]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; Notch signaling pathway [GO:0007219]; response to mercury ion [GO:0046689]; spermatogenesis [GO:0007283]; striated muscle contraction [GO:0006941]


uniprotID: Q75T13
geneSymbol: PGAP1
reactome: R-HSA-162791;
name: GPI inositol-deacylase (EC 3.1.-.-) (Post-GPI attachment to proteins factor 1) (hPGAP1)
length: 922
go: ENSG00000197121;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; hydrolase activity, acting on ester bonds [GO:0016788]; nuclease activity [GO:0004518]; phosphatidylinositol deacylase activity [GO:0050185]; phosphoric ester hydrolase activity [GO:0042578]; anterior/posterior axis specification [GO:0009948]; attachment of GPI anchor to protein [GO:0016255]; embryonic pattern specification [GO:0009880]; ER to Golgi vesicle-mediated transport [GO:0006888]; forebrain regionalization [GO:0021871]; GPI anchor metabolic process [GO:0006505]; myo-inositol transport [GO:0015798]; protein transport [GO:0015031]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q75T13-1; Sequence=Displayed; Name=2; IsoId=Q75T13-2; Sequence=VSP_023040; Note=No experimental confirmation available.; Name=3; IsoId=Q75T13-3; Sequence=VSP_023042, VSP_023043; Note=No experimental confirmation available.; Name=4; IsoId=Q75T13-4; Sequence=VSP_023041, VSP_023044; 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.; 


uniprotID: Q6P3X8
geneSymbol: PGBD2
name: PiggyBac transposable element-derived protein 2
length: 592
go: ENSG00000185220;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P3X8-1; Sequence=Displayed; Name=2; IsoId=Q6P3X8-2; Sequence=VSP_025631; 


uniprotID: Q8N328
geneSymbol: PGBD3
name: PiggyBac transposable element-derived protein 3
length: 593
go: ENSG00000225830;
opentargets: nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]
snps: rs4253072 rs11101143
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26218421}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=PGBD3; IsoId=Q8N328-1; Sequence=Displayed; Name=CSB-PGBD3 {ECO:0000303|PubMed:18369450}; IsoId=P0DP91-1, Q03468-2; Sequence=External; Note=Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence. {ECO:0000269|PubMed:18369450}; 


uniprotID: P15428
geneSymbol: HPGD
reactome: R-HSA-2142700;R-HSA-2162123;R-HSA-9018676;R-HSA-9018896;
pdb: 2GDZ;
length: 266
go: ENSG00000164120;
drug: DB00157;
snps: rs121434480 rs121434481 rs140209262
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
15-hydroxyprostaglandin dehydrogenase [NAD(+)] (15-PGDH) (EC 1.1.1.141) (Prostaglandin dehydrogenase 1) (Short chain dehydrogenase/reductase family 36C member 1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; 15-hydroxyprostaglandin dehydrogenase (NAD+) activity [GO:0016404]; catalytic activity [GO:0003824]; NAD binding [GO:0051287]; NAD+ binding [GO:0070403]; prostaglandin E receptor activity [GO:0004957]; protein homodimerization activity [GO:0042803]; ductus arteriosus closure [GO:0097070]; female pregnancy [GO:0007565]; kidney development [GO:0001822]; lipoxin biosynthetic process [GO:2001301]; lipoxygenase pathway [GO:0019372]; long-chain fatty acid biosynthetic process [GO:0042759]; negative regulation of cell cycle [GO:0045786]; ovulation [GO:0030728]; parturition [GO:0007567]; positive regulation of apoptotic process [GO:0043065]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; prostaglandin metabolic process [GO:0006693]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; thrombin-activated receptor signaling pathway [GO:0070493]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P15428-1; Sequence=Displayed; Name=2; IsoId=P15428-2; Sequence=VSP_043032; Name=3; IsoId=P15428-3; Sequence=VSP_045106; Name=4; IsoId=P15428-4; Sequence=VSP_045107, VSP_045108; Name=5; IsoId=P15428-5; Sequence=VSP_045579; Note=No experimental confirmation available.; 


uniprotID: Q9H7Z7
geneSymbol: PTGES2
reactome: R-HSA-2162123;R-HSA-6798695;
length: 377
go: ENSG00000148334;
snps: rs13283456
name:
Prostaglandin E synthase 2 (Membrane-associated prostaglandin E synthase-2) (mPGE synthase-2) (Microsomal prostaglandin E synthase 2) (mPGES-2) (Prostaglandin-H(2) E-isomerase) (EC 5.3.99.3) [Cleaved into: Prostaglandin E synthase 2 truncated form]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; DNA binding [GO:0003677]; electron transfer activity [GO:0009055]; glutathione binding [GO:0043295]; heme binding [GO:0020037]; lyase activity [GO:0016829]; prostaglandin-E synthase activity [GO:0050220]; protein disulfide oxidoreductase activity [GO:0015035]; cell redox homeostasis [GO:0045454]; cyclooxygenase pathway [GO:0019371]; neutrophil degranulation [GO:0043312]; positive regulation of transcription, DNA-templated [GO:0045893]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12835322}; Single-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Prostaglandin E synthase 2 truncated form: Cytoplasm, perinuclear region {ECO:0000269|PubMed:12835322}. Note=Synthesized as a Golgi membrane-bound protein, which is further cleaved into the predominant soluble truncated form. The truncated form is cytoplasmic and is enriched in the perinuclear region. {ECO:0000269|PubMed:12835322}.


uniprotID: P16234
geneSymbol: PDGFRA
reactome: R-HSA-1257604;R-HSA-186763;R-HSA-186797;R-HSA-2219530;R-HSA-5673001;R-HSA-6811558;
pdb: 1GQ5;5GRN;5K5X;
length: 1089
go: ENSG00000134853;
drug: DB00102;DB00619;DB05216;DB06043;DB06589;DB08901;DB08896;DB01268;DB05146;
name:
Platelet-derived growth factor receptor alpha (PDGF-R-alpha) (PDGFR-alpha) (EC 2.7.10.1) (Alpha platelet-derived growth factor receptor) (Alpha-type platelet-derived growth factor receptor) (CD140 antigen-like family member A) (CD140a antigen) (Platelet-derived growth factor alpha receptor) (Platelet-derived growth factor receptor 2) (PDGFR-2) (CD antigen CD140a)

sequence:

opentargets:
cell junction [GO:0030054]; cilium [GO:0005929]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; membrane [GO:0016020]; microvillus [GO:0005902]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; platelet-derived growth factor alpha-receptor activity [GO:0005018]; platelet-derived growth factor binding [GO:0048407]; platelet-derived growth factor receptor binding [GO:0005161]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein-containing complex binding [GO:0044877]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; vascular endothelial growth factor binding [GO:0038085]; vascular endothelial growth factor-activated receptor activity [GO:0005021]; adrenal gland development [GO:0030325]; cardiac myofibril assembly [GO:0055003]; cell activation [GO:0001775]; cell chemotaxis [GO:0060326]; cell differentiation [GO:0030154]; cellular response to amino acid stimulus [GO:0071230]; cellular response to reactive oxygen species [GO:0034614]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic skeletal system morphogenesis [GO:0048704]; estrogen metabolic process [GO:0008210]; extracellular matrix organization [GO:0030198]; face morphogenesis [GO:0060325]; hematopoietic progenitor cell differentiation [GO:0002244]; in utero embryonic development [GO:0001701]; Leydig cell differentiation [GO:0033327]; lung development [GO:0030324]; luteinization [GO:0001553]; male genitalia development [GO:0030539]; MAPK cascade [GO:0000165]; metanephric glomerular capillary formation [GO:0072277]; negative regulation of apoptotic process [GO:0043066]; negative regulation of platelet activation [GO:0010544]; negative regulation of signal transduction [GO:0009968]; odontogenesis of dentin-containing tooth [GO:0042475]; peptidyl-tyrosine phosphorylation [GO:0018108]; phosphatidylinositol-mediated signaling [GO:0048015]; platelet aggregation [GO:0070527]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; platelet-derived growth factor receptor-alpha signaling pathway [GO:0035790]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway [GO:0038091]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phospholipase C activity [GO:0010863]; positive regulation of protein kinase B signaling [GO:0051897]; protein autophosphorylation [GO:0046777]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of chemotaxis [GO:0050920]; regulation of mesenchymal stem cell differentiation [GO:2000739]; retina vasculature development in camera-type eye [GO:0061298]; roof of mouth development [GO:0060021]; signal transduction involved in regulation of gene expression [GO:0023019]; viral process [GO:0016032]; wound healing [GO:0042060]

snps:
rs36035373 rs55865821 rs35597368 rs121908586 rs1057519700 rs34392012 rs121908585 rs121913265 rs779173667 rs376544204 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P16234-1; Sequence=Displayed; Name=2; IsoId=P16234-2; Sequence=VSP_007833, VSP_007834; Note=No experimental confirmation available.; Name=3; IsoId=P16234-3; Sequence=VSP_042015, VSP_042016; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14644164, ECO:0000269|PubMed:2554309, ECO:0000269|PubMed:8188664}; Single-pass type I membrane protein {ECO:0000269|PubMed:14644164, ECO:0000269|PubMed:2554309, ECO:0000269|PubMed:8188664}. Cell projection, cilium {ECO:0000250|UniProtKB:P26618}. Golgi apparatus {ECO:0000250|UniProtKB:P26618}.


uniprotID: P23219
geneSymbol: PTGS1
reactome: R-HSA-140180;R-HSA-2162123;
length: 599
go: ENSG00000095303;
snps: rs1236913 rs3842787 rs3842789 rs10306140 rs3842792 rs5789 rs3842799 rs5791 rs5792 rs5794
name:
Prostaglandin G/H synthase 1 (EC 1.14.99.1) (Cyclooxygenase-1) (COX-1) (Prostaglandin H2 synthase 1) (PGH synthase 1) (PGHS-1) (PHS 1) (Prostaglandin-endoperoxide synthase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; photoreceptor outer segment [GO:0001750]; dioxygenase activity [GO:0051213]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; peroxidase activity [GO:0004601]; prostaglandin-endoperoxide synthase activity [GO:0004666]; cyclooxygenase pathway [GO:0019371]; inflammatory response [GO:0006954]; prostaglandin biosynthetic process [GO:0001516]; regulation of blood pressure [GO:0008217]; regulation of cell proliferation [GO:0042127]; response to oxidative stress [GO:0006979]; xenobiotic metabolic process [GO:0006805]

drug:
DB02773;DB07983;DB07981;DB07984;DB02198;DB06736;DB00316;DB03667;DB00945;DB01435;DB01419;DB04557;DB01014;DB02379;DB00963;DB00796;DB00821;DB01136;DB00672;DB00250;DB00035;DB00829;DB00586;DB00711;DB00861;DB00154;DB01075;DB00470;DB00216;DB00402;DB00749;DB00773;DB00573;DB02266;DB00712;DB03753;DB01355;DB00327;DB01892;DB01050;DB00159;DB01181;DB00619;DB00328;DB01029;DB01221;DB06738;DB01009;DB00465;DB06725;DB01283;DB01397;DB00939;DB00784;DB00814;DB00244;DB04817;DB00350;DB00471;DB00461;DB00788;DB00731;DB05822;DB06802;DB04552;DB00540;DB01837;DB00991;DB03752;DB03783;DB00812;DB01132;DB00554;DB02110;DB02709;DB00533;DB00412;DB00936;DB01399;DB01015;DB00795;DB00605;DB00870;DB00469;DB00857;DB01041;DB01600;DB00500;DB00214;DB05109;DB08814;DB01401;DB00313;DB00582;DB00549;DB06737;DB00744;DB00425;DB01198;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Long; IsoId=P23219-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P23219-2; Sequence=VSP_004673; Name=3; IsoId=P23219-3; Sequence=VSP_053936, VSP_004673; Name=4; IsoId=P23219-4; Sequence=VSP_046932; Note=No experimental confirmation available.; Name=5; Synonyms=1b3; IsoId=P23219-5; Sequence=VSP_054862; Name=6; Synonyms=1b2; IsoId=P23219-6; Sequence=VSP_054863; 

location:
SUBCELLULAR LOCATION: Microsome membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein.


uniprotID: Q92932
geneSymbol: PTPRN2
reactome: R-HSA-6798695;
pdb: 2QEP;4HTI;4HTJ;
length: 1015
go: ENSG00000155093;
snps: rs3800855 rs1130495 rs1130496 rs1130499 rs3752368 rs7456452 rs577236042
name:
Receptor-type tyrosine-protein phosphatase N2 (R-PTP-N2) (EC 3.1.3.-) (EC 3.1.3.48) (Islet cell autoantigen-related protein) (IAR) (ICAAR) (Phogrin) [Cleaved into: IA-2beta60]

sequence:

opentargets:
cell junction [GO:0030054]; endoplasmic reticulum lumen [GO:0005788]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; integral component of synaptic vesicle membrane [GO:0030285]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; secretory granule membrane [GO:0030667]; synaptic vesicle membrane [GO:0030672]; terminal bouton [GO:0043195]; transmembrane receptor protein tyrosine phosphatase activity [GO:0005001]; insulin secretion involved in cellular response to glucose stimulus [GO:0035773]; lipid metabolic process [GO:0006629]; negative regulation of GTPase activity [GO:0034260]; neurotransmitter secretion [GO:0007269]; neutrophil degranulation [GO:0043312]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92932-1; Sequence=Displayed; Name=2; IsoId=Q92932-2; Sequence=VSP_007779; Note=No experimental confirmation available.; Name=3; IsoId=Q92932-3; Sequence=VSP_035264; Note=No experimental confirmation available.; Name=4; IsoId=Q92932-4; Sequence=VSP_045032; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:P80560}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P80560}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P80560}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:P80560}. Note=Predominantly found on dense-core secretory granules. Sorting to secretory granules in part is dependent of the N-terminal propeptide domain of the precursor and its interaction with CPE (By similarity). Transiently found at the cell membrane, when secretory vesicles fuse with the cell membrane to release their cargo. Is then endocytosed and recycled to secretory vesicles involving clathrin-dependent AP2-mediated endocytosis. Recycled via STX6- but not TTTGN1/TGN38-containing compartments (By similarity). {ECO:0000250|UniProtKB:P80560, ECO:0000250|UniProtKB:Q63475}.; SUBCELLULAR LOCATION: IA-2beta60: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000305}.


uniprotID: P35354
geneSymbol: PTGS2
pdb: 1V0X;5F19;5F1A;5IKQ;5IKR;5IKT;5IKV;5KIR;
length: 604
go: ENSG00000073756;
snps: rs3218622 rs4648279 rs5272 rs5273 rs3218625
reactome:
R-HSA-197264;R-HSA-2142770;R-HSA-2162123;R-HSA-6783783;R-HSA-6785807;R-HSA-9018677;R-HSA-9018679;R-HSA-9025094;R-HSA-9027604;

name:
Prostaglandin G/H synthase 2 (EC 1.14.99.1) (Cyclooxygenase-2) (COX-2) (PHS II) (Prostaglandin H2 synthase 2) (PGH synthase 2) (PGHS-2) (Prostaglandin-endoperoxide synthase 2)

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; neuron projection [GO:0043005]; organelle membrane [GO:0031090]; protein-containing complex [GO:0032991]; arachidonate 15-lipoxygenase activity [GO:0050473]; enzyme binding [GO:0019899]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; peroxidase activity [GO:0004601]; prostaglandin-endoperoxide synthase activity [GO:0004666]; protein homodimerization activity [GO:0042803]; aging [GO:0007568]; angiogenesis [GO:0001525]; bone mineralization [GO:0030282]; brown fat cell differentiation [GO:0050873]; cellular response to ATP [GO:0071318]; cellular response to fluid shear stress [GO:0071498]; cellular response to heat [GO:0034605]; cellular response to hypoxia [GO:0071456]; cellular response to lead ion [GO:0071284]; cellular response to mechanical stimulus [GO:0071260]; cellular response to non-ionic osmotic stress [GO:0071471]; cellular response to UV [GO:0034644]; cyclooxygenase pathway [GO:0019371]; cytokine-mediated signaling pathway [GO:0019221]; decidualization [GO:0046697]; embryo implantation [GO:0007566]; hair cycle [GO:0042633]; inflammatory response [GO:0006954]; learning [GO:0007612]; lipoxygenase pathway [GO:0019372]; long-chain fatty acid biosynthetic process [GO:0042759]; maintenance of permeability of blood-brain barrier [GO:0035633]; memory [GO:0007613]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress [GO:1902219]; negative regulation of smooth muscle contraction [GO:0045986]; negative regulation of synaptic transmission, dopaminergic [GO:0032227]; ovulation [GO:0030728]; positive regulation of apoptotic process [GO:0043065]; positive regulation of brown fat cell differentiation [GO:0090336]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of fever generation [GO:0031622]; positive regulation of fibroblast growth factor production [GO:0090271]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of platelet-derived growth factor production [GO:0090362]; positive regulation of prostaglandin biosynthetic process [GO:0031394]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of synaptic plasticity [GO:0031915]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of transforming growth factor beta production [GO:0071636]; positive regulation of vascular endothelial growth factor production [GO:0010575]; positive regulation of vasoconstriction [GO:0045907]; prostaglandin biosynthetic process [GO:0001516]; regulation of blood pressure [GO:0008217]; regulation of inflammatory response [GO:0050727]; response to angiotensin [GO:1990776]; response to estradiol [GO:0032355]; response to fatty acid [GO:0070542]; response to fructose [GO:0009750]; response to glucocorticoid [GO:0051384]; response to lipopolysaccharide [GO:0032496]; response to lithium ion [GO:0010226]; response to manganese ion [GO:0010042]; response to oxidative stress [GO:0006979]; response to tumor necrosis factor [GO:0034612]; response to vitamin D [GO:0033280]; sensory perception of pain [GO:0019233]

drug:
DB03477;DB00316;DB00945;DB00041;DB00233;DB01435;DB01419;DB01014;DB00963;DB00887;DB06774;DB00821;DB00482;DB00856;DB05095;DB00515;DB00720;DB00250;DB05804;DB00035;DB00586;DB00861;DB00154;DB01395;DB00005;DB00749;DB00773;DB01628;DB00573;DB09217;DB02266;DB00712;DB01404;DB01050;DB00159;DB00328;DB01009;DB00465;DB00480;DB04725;DB06725;DB01283;DB01397;DB00939;DB00784;DB00814;DB00244;DB00461;DB00788;DB06802;DB04552;DB04743;DB06804;DB00991;DB08439;DB00812;DB00554;DB08910;DB03866;DB02709;DB00884;DB00533;DB00936;DB01399;DB00360;DB05875;DB00795;DB00605;DB00870;DB08819;DB00469;DB01041;DB01600;DB00500;DB00620;DB01401;DB00580;

location:
SUBCELLULAR LOCATION: Microsome membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein.


uniprotID: P08575
geneSymbol: PTPRC
reactome: R-HSA-202427;R-HSA-416700;R-HSA-6798695;
pdb: 1YGR;1YGU;5FMV;5FN6;5FN7;
length: 1306
go: ENSG00000081237;
snps: rs4915154 rs2230606 rs6696162 rs12136658 rs2298872
name:
Receptor-type tyrosine-protein phosphatase C (EC 3.1.3.48) (Leukocyte common antigen) (L-CA) (T200) (CD antigen CD45)

sequence:

opentargets:
bleb [GO:0032059]; cell surface [GO:0009986]; cytoplasmic side of plasma membrane [GO:0009898]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane microdomain [GO:0098857]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; ankyrin binding [GO:0030506]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; signaling receptor binding [GO:0005102]; spectrin binding [GO:0030507]; transmembrane receptor protein tyrosine phosphatase activity [GO:0005001]; activation of MAPK activity [GO:0000187]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; B cell receptor signaling pathway [GO:0050853]; bone marrow development [GO:0048539]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell cycle phase transition [GO:0044770]; cell surface receptor signaling pathway [GO:0007166]; cellular response to extracellular stimulus [GO:0031668]; defense response to virus [GO:0051607]; dephosphorylation [GO:0016311]; DN2 thymocyte differentiation [GO:1904155]; hematopoietic progenitor cell differentiation [GO:0002244]; heterotypic cell-cell adhesion [GO:0034113]; immunoglobulin biosynthetic process [GO:0002378]; leukocyte cell-cell adhesion [GO:0007159]; natural killer cell differentiation [GO:0001779]; negative regulation of cell adhesion involved in substrate-bound cell migration [GO:0006933]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of interleukin-2 biosynthetic process [GO:0045085]; negative regulation of microglial cell activation [GO:1903979]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein tyrosine kinase activity [GO:0061099]; negative regulation of T cell mediated cytotoxicity [GO:0001915]; negative thymic T cell selection [GO:0045060]; neutrophil degranulation [GO:0043312]; plasma membrane raft distribution [GO:0044855]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of antigen receptor-mediated signaling pathway [GO:0050857]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis [GO:1905451]; positive regulation of gamma-delta T cell differentiation [GO:0045588]; positive regulation of hematopoietic stem cell migration [GO:2000473]; positive regulation of humoral immune response mediated by circulating immunoglobulin [GO:0002925]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein tyrosine phosphatase activity [GO:1903615]; positive regulation of stem cell proliferation [GO:2000648]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tumor necrosis factor production [GO:0032760]; positive thymic T cell selection [GO:0045059]; protein dephosphorylation [GO:0006470]; regulation of B cell differentiation [GO:0045577]; regulation of B cell receptor signaling pathway [GO:0050855]; regulation of cell cycle [GO:0051726]; regulation of gene expression [GO:0010468]; regulation of interleukin-8 production [GO:0032677]; regulation of JAK-STAT cascade [GO:0046425]; regulation of phagocytosis [GO:0050764]; regulation of protein tyrosine kinase activity [GO:0061097]; release of sequestered calcium ion into cytosol [GO:0051209]; response to gamma radiation [GO:0010332]; stem cell development [GO:0048864]; T cell activation [GO:0042110]; T cell differentiation [GO:0030217]; T cell proliferation [GO:0042098]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=CD45RABC {ECO:0000303|PubMed:11975983}; IsoId=P08575-3; Sequence=Displayed; Name=2; Synonyms=CD45R0 {ECO:0000303|PubMed:11975983}; IsoId=P08575-4; Sequence=VSP_059409; Name=3; Synonyms=CD45RAB {ECO:0000303|PubMed:11975983}; IsoId=P08575-5; Sequence=VSP_059837; Name=4; Synonyms=CD45RAC {ECO:0000303|PubMed:11975983}; IsoId=P08575-6; Sequence=VSP_059836; Name=5; Synonyms=CD45RBC {ECO:0000303|PubMed:11975983}; IsoId=P08575-7; Sequence=VSP_059834; Name=6; Synonyms=CD45RA {ECO:0000303|PubMed:11975983}; IsoId=P08575-8; Sequence=VSP_059835; Name=7; Synonyms=CD45RB {ECO:0000303|PubMed:11975983}; IsoId=P08575-9; Sequence=VSP_059834, VSP_059837; Name=8; Synonyms=CD45RC {ECO:0000303|PubMed:11975983}; IsoId=P08575-10; Sequence=VSP_059833; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12676959, ECO:0000269|PubMed:22174689}; Single-pass type I membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:12676959}. Note=Colocalized with DPP4 in membrane rafts. {ECO:0000269|PubMed:12676959}.


uniprotID: P23468
geneSymbol: PTPRD
reactome: R-HSA-388844;R-HSA-8849932;
pdb: 1X5Z;2DLH;2YD6;2YD7;4RCA;5WY8;5XNP;
length: 1912
go: ENSG00000153707;
snps: rs1353675904 rs10977171 rs35929428 rs7869444
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Receptor-type tyrosine-protein phosphatase delta (Protein-tyrosine phosphatase delta) (R-PTP-delta) (EC 3.1.3.48)

sequence:

opentargets:
extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; signaling receptor binding [GO:0005102]; transmembrane receptor protein tyrosine phosphatase activity [GO:0005001]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; neuron differentiation [GO:0030182]; phosphate-containing compound metabolic process [GO:0006796]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of synapse assembly [GO:0051965]; presynaptic membrane assembly [GO:0097105]; protein dephosphorylation [GO:0006470]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]; trans-synaptic signaling by trans-synaptic complex [GO:0099545]; transmembrane receptor protein tyrosine phosphatase signaling pathway [GO:0007185]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P23468-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=Kidney; IsoId=P23468-2; Sequence=VSP_005147, VSP_005148, VSP_005149; Name=3; Synonyms=Fetal brain; IsoId=P23468-3; Sequence=VSP_005150; Name=4; IsoId=P23468-4; Sequence=VSP_043384, VSP_043385, VSP_043386, VSP_043387, VSP_043390; Note=No experimental confirmation available.; Name=5; IsoId=P23468-5; Sequence=VSP_043386, VSP_043387, VSP_043388; Note=No experimental confirmation available.; Name=6; IsoId=P23468-6; Sequence=VSP_043386, VSP_043387, VSP_043389; Note=No experimental confirmation available.; Name=7; IsoId=P23468-7; Sequence=VSP_054220, VSP_054221, VSP_043388; 


uniprotID: P00558
geneSymbol: PGK1
reactome: R-HSA-70171;R-HSA-70263;
length: 417
go: ENSG00000102144;
drug: DB04510;DB00709;
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
2WZB;2WZC;2WZD;2X13;2X14;2X15;2XE6;2XE7;2XE8;2Y3I;2YBE;2ZGV;3C39;3C3A;3C3B;3C3C;3ZOZ;4AXX;4O33;5M1R;5M3U;5M6Z;5MXM;5NP8;5O7D;

name:
Phosphoglycerate kinase 1 (EC 2.7.2.3) (Cell migration-inducing gene 10 protein) (Primer recognition protein 2) (PRP 2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; membrane raft [GO:0045121]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; phosphoglycerate kinase activity [GO:0004618]; protein-disulfide reductase activity [GO:0047134]; canonical glycolysis [GO:0061621]; cellular response to hypoxia [GO:0071456]; chemical synaptic transmission [GO:0007268]; epithelial cell differentiation [GO:0030855]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; muscle cell cellular homeostasis [GO:0046716]; myoblast fusion [GO:0007520]; negative regulation of angiogenesis [GO:0016525]; phosphorylation [GO:0016310]; plasminogen activation [GO:0031639]; somatic muscle development [GO:0007525]

snps:
rs137852531 rs137852532 rs137852538 rs137852529 rs431905501 rs137852528 rs137852535 rs137852533 rs137852530 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00558-1; Sequence=Displayed; Name=2; IsoId=P00558-2; Sequence=VSP_056159; Note=No experimental confirmation available.; 


uniprotID: Q12913
geneSymbol: PTPRJ
reactome: R-HSA-202427;R-HSA-6798695;R-HSA-6807004;
pdb: 2CFV;2DLE;2NZ6;
length: 1337
go: ENSG00000149177;
snps: rs121434507 rs1566734 rs2229701 rs1503185 rs2229703 rs4752904 rs11039554
name:
Receptor-type tyrosine-protein phosphatase eta (Protein-tyrosine phosphatase eta) (R-PTP-eta) (EC 3.1.3.48) (Density-enhanced phosphatase 1) (DEP-1) (HPTP eta) (Protein-tyrosine phosphatase receptor type J) (R-PTP-J) (CD antigen CD148)

sequence:

opentargets:
cell surface [GO:0009986]; cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; immunological synapse [GO:0001772]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; specific granule membrane [GO:0035579]; beta-catenin binding [GO:0008013]; delta-catenin binding [GO:0070097]; gamma-catenin binding [GO:0045295]; mitogen-activated protein kinase binding [GO:0051019]; phosphatase activity [GO:0016791]; platelet-derived growth factor receptor binding [GO:0005161]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; B cell differentiation [GO:0030183]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; contact inhibition [GO:0060242]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of T cell receptor signaling pathway [GO:0050860]; negative regulation of vascular permeability [GO:0043116]; neutrophil degranulation [GO:0043312]; peptidyl-tyrosine dephosphorylation [GO:0035335]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive chemotaxis [GO:0050918]; positive regulation of cell adhesion [GO:0045785]; positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis [GO:1905451]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of cell adhesion [GO:0030155]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12913-1; Sequence=Displayed; Name=2; IsoId=Q12913-2; Sequence=VSP_043652, VSP_043653; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell projection, ruffle membrane {ECO:0000250}. Cell junction. Note=After T-cell stimulation, it is temporarily excluded from immunological synapses.


uniprotID: Q15256
geneSymbol: PTPRR
pdb: 2A8B;
length: 657
go: ENSG00000153233;
snps: rs35987017 rs3803036 rs35387004 rs35390084
name:
Receptor-type tyrosine-protein phosphatase R (R-PTP-R) (EC 3.1.3.48) (Ch-1PTPase) (NC-PTPCOM1) (Protein-tyrosine phosphatase PCPTP1)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein kinase binding [GO:0019901]; protein tyrosine phosphatase activity [GO:0004725]; transmembrane receptor protein tyrosine phosphatase activity [GO:0005001]; ERBB2 signaling pathway [GO:0038128]; in utero embryonic development [GO:0001701]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha; IsoId=Q15256-1; Sequence=Displayed; Name=Gamma; IsoId=Q15256-3; Sequence=VSP_005156; Name=Delta; IsoId=Q15256-4; Sequence=VSP_005155, VSP_005158; Name=4; IsoId=Q15256-5; Sequence=VSP_046352, VSP_046353; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform Delta: Cytoplasm, perinuclear region. Note=Locates to the perinuclear areas within the cytoplasm.; SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm, perinuclear region. Note=Locates to the perinuclear areas within the cytoplasm.


uniprotID: Q13332
geneSymbol: PTPRS
reactome: R-HSA-3000178;R-HSA-388844;R-HSA-8849932;R-HSA-9034015;
pdb: 2FH7;2YD2;2YD3;2YD9;4BPC;4PBX;
length: 1948
go: ENSG00000105426;
drug: DB00630;DB01077;
snps: rs775778266 rs4807697
name:
Receptor-type tyrosine-protein phosphatase S (R-PTP-S) (EC 3.1.3.48) (Receptor-type tyrosine-protein phosphatase sigma) (R-PTP-sigma)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; integral component of synaptic vesicle membrane [GO:0030285]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; chondroitin sulfate binding [GO:0035374]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; phosphoprotein phosphatase activity [GO:0004721]; protein tyrosine phosphatase activity [GO:0004725]; cerebellum development [GO:0021549]; cerebral cortex development [GO:0021987]; corpus callosum development [GO:0022038]; establishment of endothelial intestinal barrier [GO:0090557]; hippocampus development [GO:0021766]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of axon extension [GO:0030517]; negative regulation of axon regeneration [GO:0048681]; negative regulation of collateral sprouting [GO:0048671]; negative regulation of dendritic spine development [GO:0061000]; negative regulation of interferon-alpha production [GO:0032687]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of neuron projection development [GO:0010977]; negative regulation of toll-like receptor 9 signaling pathway [GO:0034164]; peptidyl-tyrosine dephosphorylation [GO:0035335]; protein dephosphorylation [GO:0006470]; regulation of postsynaptic density assembly [GO:0099151]; spinal cord development [GO:0021510]; synaptic membrane adhesion [GO:0099560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=PTPS; IsoId=Q13332-1; Sequence=Displayed; Name=PTPS-MEA; IsoId=Q13332-2; Sequence=VSP_050021; Name=PTPS-MEB; IsoId=Q13332-3; Sequence=VSP_050022, VSP_050026, VSP_050027; Name=PTPS-MEC; IsoId=Q13332-4; Sequence=VSP_050024; Name=PTPS-F4-7; IsoId=Q13332-5; Sequence=VSP_050023, VSP_050025; Name=2; IsoId=Q13332-6; Sequence=VSP_050021, VSP_050022, VSP_050024, VSP_050026, VSP_050027; Name=3; IsoId=Q13332-7; Sequence=VSP_050021, VSP_050022, VSP_050023, VSP_050025, VSP_050026, VSP_050027; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26231120}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:B0V2N1}. Perikaryon {ECO:0000250|UniProtKB:B0V2N1}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q64605}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q64605}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q64605}. Note=Is rapidly internalized when dendritic cells are stimulated with the TLR9 ligand cytidine-phosphate-guanosine (CpG) (PubMed:26231120). Detected in a punctate pattern along neurites and axon growth cones (By similarity). {ECO:0000250|UniProtKB:B0V2N1, ECO:0000269|PubMed:26231120}.


