# annotation

uniprotID: O75444
geneSymbol: MAF
reactome: R-HSA-8940973;
length: 373
go: ENSG00000178573;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}.
name:
Transcription factor Maf (Proto-oncogene c-Maf) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cell development [GO:0048468]; cytokine production [GO:0001816]; inner ear development [GO:0048839]; lens fiber cell differentiation [GO:0070306]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of chondrocyte differentiation [GO:0032330]; transcription by RNA polymerase II [GO:0006366]

snps:
rs727502766 rs727502767 rs727502769 rs727502770 rs727502770 rs727502771 rs727502768 rs121917735 rs121917736 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=Short; IsoId=O75444-2; Sequence=Displayed; Name=1; Synonyms=Long; IsoId=O75444-1; Sequence=VSP_000583; 


uniprotID: P43366
geneSymbol: MAGEB1
length: 347
go: ENSG00000214107;
snps: rs7062640
name:
Melanoma-associated antigen B1 (Cancer/testis antigen 3.1) (CT3.1) (DSS-AHC critical interval MAGE superfamily 10) (DAM10) (MAGE-B1 antigen) (MAGE-XP antigen)

sequence:


uniprotID: Q9UJ55
geneSymbol: MAGEL2
name: MAGE-like protein 2 (Necdin-like protein 1) (Protein nM15)
length: 1249
go: ENSG00000254585;
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; nucleus [GO:0005634]; ubiquitin-protein transferase activity [GO:0004842]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; negative regulation of transcription, DNA-templated [GO:0045892]; protein K63-linked ubiquitination [GO:0070534]; regulation of circadian rhythm [GO:0042752]; retrograde transport, endosome to Golgi [GO:0042147]; rhythmic process [GO:0048511]

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:23452853}. Cytoplasm {ECO:0000250|UniProtKB:Q9QZ04}. Nucleus {ECO:0000250|UniProtKB:Q9QZ04}. Note=Recruited to retromer-containing endosomes via interaction with VPS35. Colocalizes with CLOCK and ARNTL/BMLA1 in the cytoplasm, and with PER2 in the cytoplasm and nucleus (By similarity). {ECO:0000250|UniProtKB:Q9QZ04, ECO:0000269|PubMed:23452853}.


uniprotID: Q9Y5Q3
geneSymbol: MAFB
reactome: R-HSA-5617472;
name: Transcription factor MafB (Maf-B) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog B)
length: 323
go: ENSG00000204103;
snps: rs730880014 rs387907004 rs387907005 rs387907006 rs387907008 rs387907007
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; abducens nerve formation [GO:0021599]; brain segmentation [GO:0035284]; inner ear morphogenesis [GO:0042472]; negative regulation of erythrocyte differentiation [GO:0045647]; negative regulation of osteoclast differentiation [GO:0045671]; regulation of transcription, DNA-templated [GO:0006355]; respiratory gaseous exchange [GO:0007585]; rhombomere 5 development [GO:0021571]; rhombomere 6 development [GO:0021572]; segment specification [GO:0007379]; sensory organ development [GO:0007423]; T cell differentiation in thymus [GO:0033077]; thymus development [GO:0048538]


uniprotID: P43357
geneSymbol: MAGEA3
pdb: 1QEW;4V0P;5BRZ;
name: Melanoma-associated antigen 3 (Antigen MZ2-D) (Cancer/testis antigen 1.3) (CT1.3) (MAGE-3 antigen)
length: 314
go: ENSG00000221867;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; caspase binding [GO:0089720]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of protein processing [GO:0010955]


uniprotID: Q9Y5V3
geneSymbol: MAGED1
reactome: R-HSA-193648;R-HSA-418889;
length: 778
go: ENSG00000179222;
snps: rs12689461
name:
Melanoma-associated antigen D1 (MAGE tumor antigen CCF) (MAGE-D1 antigen) (Neurotrophin receptor-interacting MAGE homolog)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; transcription coactivator activity [GO:0003713]; circadian regulation of gene expression [GO:0032922]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of circadian rhythm [GO:0042752]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5V3-1; Sequence=Displayed; Name=2; IsoId=Q9Y5V3-2; Sequence=VSP_009286; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Nucleus {ECO:0000250}. Note=Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF. {ECO:0000250}.


uniprotID: Q9UNF1
geneSymbol: MAGED2
reactome: R-HSA-114608;
length: 606
go: ENSG00000102316;
snps: rs12014977 rs1021000890 rs878854407
name:
Melanoma-associated antigen D2 (11B6) (Breast cancer-associated gene 1 protein) (BCG-1) (Hepatocellular carcinoma-associated protein JCL-1) (MAGE-D2 antigen)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; platelet alpha granule lumen [GO:0031093]; female pregnancy [GO:0007565]; platelet degranulation [GO:0002576]; renal sodium ion absorption [GO:0070294]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNF1-1; Sequence=Displayed; Name=2; IsoId=Q9UNF1-2; Sequence=VSP_008030; Note=No experimental confirmation available.; 


uniprotID: Q9HCI5
geneSymbol: MAGEE1
pdb: 2H5T;
length: 957
go: ENSG00000198934;
snps: rs142080557 rs7051260
name:
Melanoma-associated antigen E1 (Alpha-dystrobrevin-associated MAGE Protein) (DAMAGE) (Hepatocellular carcinoma-associated protein 1) (MAGE-E1 antigen)

sequence:

opentargets:
dendrite [GO:0030425]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. Nucleus {ECO:0000250}. Cell membrane {ECO:0000250}. Note=In the skeletal muscle, found at the postsynaptic membrane and is associated with a subset of myonuclei. May reside within nuclei and/or in perinuclear compartments. In peripheral nerves, colocalizes with DTNA in the Schwann cell membrane (By similarity). {ECO:0000250}.


uniprotID: Q3KP22
geneSymbol: MAJIN
name: Membrane-anchored junction protein
length: 176
go: ENSG00000168070;
sequence:
MSLKPFTYPFPETRFLHAGPNVYKFKIRYGKSIRGEEIENKEVITQELEVPVEKKAVGAVMRKRKHMDEPSSPSRPGLDRAKIGTSSQGPSKKKPPVETRRNRERKTQQGLQETLASDITDVQKQDSEWGHSLPGRIVPPLQHNSPPPKERAATGFFGFLSSLFPFRYFFRKSSHS

opentargets:
integral component of nuclear inner membrane [GO:0005639]; nuclear chromosome, telomeric region [GO:0000784]; DNA binding [GO:0003677]; meiotic attachment of telomere to nuclear envelope [GO:0070197]; meiotic telomere clustering [GO:0045141]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q3KP22-1; Sequence=Displayed; Name=1; IsoId=Q3KP22-3; Sequence=VSP_058061, VSP_058062, VSP_058063; Name=2; IsoId=Q3KP22-4; Sequence=VSP_058060; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250|UniProtKB:Q9D992}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9D992}. Chromosome, telomere {ECO:0000250|UniProtKB:Q9D992}. Note=In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250|UniProtKB:Q9D992}.


uniprotID: Q13021
geneSymbol: MALL
name: MAL-like protein (Protein BENE)
length: 153
go: ENSG00000144063;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MASPDPPATSYAPSDVPSGVALFLTIPFAFFLPELIFGFLVWTMVAATHIVYPLLQGWVMYVSLTSFLISLMFLLSYLFGFYKRFESWRVLDSLYHGTTGILYMSAAVLQVHATIVSEKLLDPRIYYINSAASFFAFIATLLYILHAFSIYYH

opentargets:
clathrin-coated vesicle [GO:0030136]; cytoplasmic vesicle [GO:0031410]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; structural constituent of myelin sheath [GO:0019911]; cholesterol homeostasis [GO:0042632]; myelination [GO:0042552]


uniprotID: Q96QZ7
geneSymbol: MAGI1
pdb: 1WBP;2KPK;2KPL;2Q9V;2R4H;2YSD;2YSE;2ZAJ;3BPU;5N7D;5N7F;5N7G;
length: 1491
go: ENSG00000151276;
name:
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (Atrophin-1-interacting protein 3) (AIP-3) (BAI1-associated protein 1) (BAP-1) (Membrane-associated guanylate kinase inverted 1) (MAGI-1) (Trinucleotide repeat-containing gene 19 protein) (WW domain-containing protein 3) (WWP3)

sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell projection [GO:0042995]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; alpha-actinin binding [GO:0051393]; ATP binding [GO:0005524]; protein C-terminus binding [GO:0008022]; protein-containing complex scaffold activity [GO:0032947]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=MAGI-1C-alpha-beta1; IsoId=Q96QZ7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; Synonyms=MAGI-1C-beta; IsoId=Q96QZ7-2; Sequence=VSP_011664, VSP_011666; Name=3; Synonyms=MAGI-1A-alpha-beta1; IsoId=Q96QZ7-3; Sequence=VSP_011670, VSP_011671, VSP_011672; Name=4; Synonyms=MAGI-1A-alpha; IsoId=Q96QZ7-4; Sequence=VSP_011664, VSP_011666, VSP_011667, VSP_011668, VSP_011670, VSP_011671, VSP_011672; Name=5; Synonyms=MAGI-1B-alpha-beta; IsoId=Q96QZ7-5; Sequence=VSP_011666, VSP_011669, VSP_011672; Name=6; Synonyms=MAGI-1C-beta2; IsoId=Q96QZ7-6; Sequence=VSP_011664, VSP_011666, VSP_011667; Note=No experimental confirmation available.; Name=7; Synonyms=MAGI-1C-beta3; IsoId=Q96QZ7-7; Sequence=VSP_011664, VSP_011665; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:11969287}. Cell membrane {ECO:0000269|PubMed:11969287}; Peripheral membrane protein {ECO:0000269|PubMed:11969287}. Note=Localizes to epithelial cells tight junctions.


uniprotID: Q8N4S9
geneSymbol: MARVELD2
pdb: 5N7H;5N7I;5N7K;
name: MARVEL domain-containing protein 2 (Tricellulin)
length: 558
go: ENSG00000152939;
snps: rs1185246
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; paranodal junction [GO:0033010]; Schmidt-Lanterman incisure [GO:0043220]; tricellular tight junction [GO:0061689]; bicellular tight junction assembly [GO:0070830]; cell-cell junction organization [GO:0045216]; establishment of endothelial barrier [GO:0061028]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A, TRIC; IsoId=Q8N4S9-1; Sequence=Displayed; Name=2; Synonyms=TRICbeta; IsoId=Q8N4S9-2; Sequence=VSP_022320, VSP_022321; Name=3; Synonyms=A1; IsoId=Q8N4S9-3; Sequence=VSP_035760; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28661558}; Multi-pass membrane protein {ECO:0000305}. Cell junction, tight junction {ECO:0000269|PubMed:28661558}. Note=Found at tricellular contacts. {ECO:0000269|PubMed:28661558}.


uniprotID: Q96A59
geneSymbol: MARVELD3
name: MARVEL domain-containing protein 3
length: 401
go: ENSG00000140832;
snps: rs4788821
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; bicellular tight junction assembly [GO:0070830]; cell-cell junction organization [GO:0045216]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of JNK cascade [GO:0046329]; protein localization to cell junction [GO:1902414]; response to osmotic stress [GO:0006970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96A59-1; Sequence=Displayed; Name=2; IsoId=Q96A59-2; Sequence=VSP_022322; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q96A59-3; Sequence=VSP_047541, VSP_047542; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell junction, tight junction {ECO:0000269|PubMed:20028514}.


uniprotID: Q96JK9
geneSymbol: MAML3
name: Mastermind-like protein 3 (Mam-3)
length: 1138
go: ENSG00000196782;
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription coactivator activity [GO:0003713]; Notch signaling pathway [GO:0007219]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of Notch receptor target [GO:0007221]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:12370315}. Note=Nuclear, in a punctate manner.


uniprotID: Q16655
geneSymbol: MLANA
length: 118
go: ENSG00000120215;
pdb:
2GT9;2GTW;2GTZ;2GUO;3HG1;3L6F;3MRO;3MRP;3MRQ;3QDM;3QEQ;3QFD;4EUP;4JFF;4L3E;4QOK;4WJ5;5E9D;5NHT;5NQK;

name:
Melanoma antigen recognized by T-cells 1 (MART-1) (Antigen LB39-AA) (Antigen SK29-AA) (Protein Melan-A)

sequence:
MPREDAHFIYGYPKKGHGHSYTTAEEAAGIGILTVILGVLLLIGCWYCRRRNGYRALMDKSLHVGTQCALTRRCPQEGFDHRDSKVSLQEKNCEPVVPNAPPAYEKLSAEQSPPPYSP

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; melanosome [GO:0042470]; trans-Golgi network [GO:0005802]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type III membrane protein. Golgi apparatus. Golgi apparatus, trans-Golgi network membrane. Melanosome. Note=Also found in small vesicles and tubules dispersed over the entire cytoplasm. A small fraction of the protein is inserted into the membrane in an inverted orientation. Inversion of membrane topology results in the relocalization of the protein from a predominant Golgi/post-Golgi area to the endoplasmic reticulum. Melanoma cells expressing the protein with an inverted membrane topology are more effectively recognized by specific cytolytic T-lymphocytes than those expressing the protein in its native membrane orientation.


uniprotID: Q5VT66
geneSymbol: MARC1
reactome: R-HSA-211945;
length: 337
go: ENSG00000186205;
snps: rs72470572 rs12023067 rs2642438 rs17850677 rs3738178 rs72470601 rs2642419
name:
Mitochondrial amidoxime-reducing component 1 (mARC1) (EC 1.-.-.-) (Molybdenum cofactor sulfurase C-terminal domain-containing protein 1) (MOSC domain-containing protein 1) (Moco sulfurase C-terminal domain-containing protein 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; molybdenum ion binding [GO:0030151]; molybdopterin cofactor binding [GO:0043546]; nitrate reductase activity [GO:0008940]; pyridoxal phosphate binding [GO:0030170]; detoxification of nitrogen compound [GO:0051410]; nitrate metabolic process [GO:0042126]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VT66-1; Sequence=Displayed; Name=2; IsoId=Q5VT66-2; Sequence=VSP_022512; Note=No experimental confirmation available.; Name=3; IsoId=Q5VT66-3; Sequence=VSP_022511, VSP_022512; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:23086957}; Single-pass type II membrane protein {ECO:0000269|PubMed:23086957}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Mitochondrial import is mediated by AA 1-40 and requires ATP.


uniprotID: Q14244
geneSymbol: MAP7
length: 749
go: ENSG00000135525;
snps: rs35350783 rs35107962 rs2076190
name:
Ensconsin (Epithelial microtubule-associated protein of 115 kDa) (E-MAP-115) (Microtubule-associated protein 7) (MAP-7)

sequence:

opentargets:
axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; microtubule cytoskeleton [GO:0015630]; perinuclear region of cytoplasm [GO:0048471]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; establishment or maintenance of cell polarity [GO:0007163]; microtubule cytoskeleton organization [GO:0000226]; protein localization to plasma membrane [GO:0072659]; response to osmotic stress [GO:0006970]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q14244-1; Sequence=Displayed; Name=2; Synonyms=E-MAP-115-105; IsoId=Q14244-2; Sequence=VSP_021317; Name=3; Synonyms=E-MAP-115-95; IsoId=Q14244-3; Sequence=VSP_021316; Name=4; IsoId=Q14244-4; Sequence=VSP_043336, VSP_021317; Note=No experimental confirmation available.; Name=5; IsoId=Q14244-5; Sequence=VSP_043335; Note=No experimental confirmation available.; Name=6; IsoId=Q14244-6; Sequence=VSP_046758; Note=No experimental confirmation available.; Name=7; IsoId=Q14244-7; Sequence=VSP_043336; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Basolateral cell membrane. Cytoplasm, cytoskeleton. Note=Colocalized on microtubules. An intracellular redistribution is triggered during induction of keratinocyte terminal differentiation from microtubules with a perinuclear localization to cortical microtubules organized in spike-like bundles facing intercellular contacts.


uniprotID: Q9Y2H9
geneSymbol: MAST1
pdb: 2M9X;3PS4;
length: 1570
go: ENSG00000105613;
snps: rs35052801 rs35071862
name:
Microtubule-associated serine/threonine-protein kinase 1 (EC 2.7.11.1) (Syntrophin-associated serine/threonine-protein kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; cytoskeleton organization [GO:0007010]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with syntrophins at the cell membrane. {ECO:0000250}.


uniprotID: P29966
geneSymbol: MARCKS
reactome: R-HSA-399997;
length: 332
go: ENSG00000277443;
snps: rs45593337 rs3734458
name:
Myristoylated alanine-rich C-kinase substrate (MARCKS) (Protein kinase C substrate, 80 kDa protein, light chain) (80K-L protein) (PKCSL)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament bundle [GO:0032432]; cell cortex [GO:0005938]; centrosome [GO:0005813]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; germinal vesicle [GO:0042585]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; calmodulin binding [GO:0005516]; identical protein binding [GO:0042802]; protein kinase C binding [GO:0005080]; actin crosslink formation [GO:0051764]; actin filament bundle assembly [GO:0051017]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: O60307
geneSymbol: MAST3
pdb: 1V9V;3KHF;
name: Microtubule-associated serine/threonine-protein kinase 3 (EC 2.7.11.1)
length: 1309
go: ENSG00000099308;
snps: rs35945810 rs8108738 rs369960905
sequence:

opentargets:
intracellular [GO:0005622]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; cytoskeleton organization [GO:0007010]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]


uniprotID: Q9P0L2
geneSymbol: MARK1
pdb: 2HAK;3OSE;6C9D;
length: 795
go: ENSG00000116141;
snps: rs56212551 rs55691439 rs12123778 rs55688276
name:
Serine/threonine-protein kinase MARK1 (EC 2.7.11.1) (EC 2.7.11.26) (MAP/microtubule affinity-regulating kinase 1) (PAR1 homolog c) (Par-1c) (Par1c)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendrite [GO:0030425]; microtubule cytoskeleton [GO:0015630]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; cytoskeleton organization [GO:0007010]; establishment of cell polarity [GO:0030010]; establishment of mitochondrion localization [GO:0051654]; intracellular signal transduction [GO:0035556]; microtubule cytoskeleton organization [GO:0000226]; neuron migration [GO:0001764]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of dendrite development [GO:0050773]; regulation of neuron projection development [GO:0010975]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P0L2-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9P0L2-2; Sequence=VSP_051702, VSP_051704; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000305}; IsoId=Q9P0L2-3; Sequence=VSP_051703, VSP_051704; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21145462}; Peripheral membrane protein {ECO:0000269|PubMed:21145462}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:23666762}. Cell projection, dendrite {ECO:0000269|PubMed:23666762}. Note=Appears to localize to an intracellular network. {ECO:0000250}.


uniprotID: Q6ZN01
geneSymbol: MAMSTR
length: 415
go: ENSG00000176909;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
MEF2-activating motif and SAP domain-containing transcriptional regulator (MEF2-activating SAP transcriptional regulatory protein)

sequence:

opentargets:
nucleus [GO:0005634]; RNA polymerase II transcription factor binding [GO:0001085]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZN01-1; Sequence=Displayed; Name=2; IsoId=Q6ZN01-2; Sequence=VSP_031554; Name=3; IsoId=Q6ZN01-3; Sequence=VSP_031554, VSP_031555; Note=No experimental confirmation available.; 


uniprotID: Q96EH3
geneSymbol: MALSU1
pdb: 5OOL;5OOM;
name: Mitochondrial assembly of ribosomal large subunit protein 1
length: 234
go: ENSG00000156928;
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ribosomal large subunit binding [GO:0043023]; negative regulation of mitochondrial translation [GO:0070130]; negative regulation of ribosome biogenesis [GO:0090071]; negative regulation of translation [GO:0017148]; ribosomal large subunit biogenesis [GO:0042273]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:16548050, ECO:0000269|PubMed:22238375, ECO:0000269|PubMed:22238376, ECO:0000269|PubMed:22829778, ECO:0000269|PubMed:23171548, ECO:0000305|PubMed:28892042}. Note=Colocalizes with MRPL12 and/or MRPL14. {ECO:0000269|PubMed:22238375, ECO:0000269|PubMed:22829778}.


uniprotID: Q96L34
geneSymbol: MARK4
reactome: R-HSA-5620912;
pdb: 5ES1;
length: 752
go: ENSG00000007047;
snps: rs35070611 rs780763668
name:
MAP/microtubule affinity-regulating kinase 4 (EC 2.7.11.1) (MAP/microtubule affinity-regulating kinase-like 1)

sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; gamma-tubulin complex [GO:0000930]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; neuron projection [GO:0043005]; ATP binding [GO:0005524]; gamma-tubulin binding [GO:0043015]; microtubule binding [GO:0008017]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; ubiquitin binding [GO:0043130]; cell cycle [GO:0007049]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium organization [GO:0044782]; establishment of cell polarity [GO:0030010]; intracellular signal transduction [GO:0035556]; microtubule bundle formation [GO:0001578]; microtubule cytoskeleton organization [GO:0000226]; nervous system development [GO:0007399]; positive regulation of cilium assembly [GO:0045724]; positive regulation of programmed cell death [GO:0043068]; positive regulation of protein localization to centrosome [GO:1904781]; protein phosphorylation [GO:0006468]; regulation of centrosome cycle [GO:0046605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MARK4L; IsoId=Q96L34-1; Sequence=Displayed; Name=2; Synonyms=MARKL1S, MARK4S; IsoId=Q96L34-2; Sequence=VSP_004946; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14594945}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000269|PubMed:14594945}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:23400999}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:23400999}. Cytoplasm {ECO:0000269|PubMed:23400999, ECO:0000269|PubMed:23666762}. Cell projection, dendrite {ECO:0000269|PubMed:23666762}. Note=Localized at the tips of neurite-like processes in differentiated neuroblast cells. Detected in the cytoplasm and neuropil of the hippocampus. {ECO:0000269|PubMed:14594945, ECO:0000269|PubMed:23666762}.


uniprotID: Q8N8R3
geneSymbol: SLC25A29
reactome: R-HSA-352230;
length: 303
go: ENSG00000197119;
drug: DB00583;
name:
Mitochondrial basic amino acids transporter (Carnitine/acylcarnitine translocase-like) (CACT-like) (Mitochondrial carnitine/acylcarnitine carrier protein CACL) (Mitochondrial ornithine transporter 3) (Solute carrier family 25 member 29)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; acyl carnitine transmembrane transporter activity [GO:0015227]; basic amino acid transmembrane transporter activity [GO:0015174]; high-affinity arginine transmembrane transporter activity [GO:0005289]; high-affinity lysine transmembrane transporter activity [GO:0005292]; acyl carnitine transport [GO:0006844]; amino acid transport [GO:0006865]; L-arginine transmembrane transport [GO:1903400]; L-histidine transmembrane transport [GO:0089709]; L-lysine transmembrane transport [GO:1903401]; mitochondrial L-ornithine transmembrane transport [GO:1990575]; ornithine transport [GO:0015822]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N8R3-1; Sequence=Displayed; Name=2; IsoId=Q8N8R3-2; Sequence=VSP_046286, VSP_046287; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q8N8R3-3; Sequence=VSP_055335; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:19287344}; Multi-pass membrane protein {ECO:0000269|PubMed:19287344}.


uniprotID: Q96PE7
geneSymbol: MCEE
reactome: R-HSA-71032;
pdb: 3RMU;
name: Methylmalonyl-CoA epimerase, mitochondrial (EC 5.1.99.1) (DL-methylmalonyl-CoA racemase)
length: 176
go: ENSG00000124370;
snps: rs11541017 rs6748672
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:
MARVLKAAAANAVGLFSRLQAPIPTVRASSTSQPLDQVTGSVWNLGRLNHVAIAVPDLEKAAAFYKNILGAQVSEAVPLPEHGVSVVFVNLGNTKMELLHPLGRDSPIAGFLQKNKAGGMHHICIEVDNINAAVMDLKKKKIRSLSEEVKIGAHGKPVIFLHPKDCGGVLVELEQA

opentargets:
mitochondrial matrix [GO:0005759]; metal ion binding [GO:0046872]; methylmalonyl-CoA epimerase activity [GO:0004493]; L-methylmalonyl-CoA metabolic process [GO:0046491]; short-chain fatty acid catabolic process [GO:0019626]


uniprotID: D6RGH6
geneSymbol: MCIDAS
pdb: 4BRY;
length: 385
go: ENSG00000234602;
snps: rs797045151 rs797045152
name:
Multicilin (Multiciliate differentiation and DNA synthesis-associated cell cycle protein) (McIdas protein) (Protein Idas)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; transcription coactivator activity [GO:0003713]; cell cycle [GO:0007049]; centriole assembly [GO:0098534]; cilium assembly [GO:0060271]; motile cilium assembly [GO:0044458]; multi-ciliated epithelial cell differentiation [GO:1903251]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA replication [GO:0006275]; regulation of mitotic cell cycle [GO:0007346]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21543332}. Note=Excluded from the nucleolus. {ECO:0000269|PubMed:21543332}.


uniprotID: P20382
geneSymbol: PMCH
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
length: 165
go: ENSG00000183395;
location: SUBCELLULAR LOCATION: Secreted.
name:
Pro-MCH [Cleaved into: Neuropeptide-glycine-glutamic acid (NGE) (Neuropeptide G-E); Neuropeptide-glutamic acid-isoleucine (NEI) (Neuropeptide E-I); Melanin-concentrating hormone (MCH)]

sequence:
MAKMNLSSYILILTFSLFSQGILLSASKSIRNLDDDMVFNTFRLGKGFQKEDTAEKSVIAPSLEQYKNDESSFMNEEENKVSKNTGSKHNFLNHGLPLNLAIKPYLALKGSVAFPAENGVQNTESTQEKREIGDEENSAKFPIGRRDFDMLRCMLGRVYRPCWQV

opentargets:
extracellular region [GO:0005576]; nucleus [GO:0005634]; melanin-concentrating hormone activity [GO:0030354]; cell differentiation [GO:0030154]; chemical synaptic transmission [GO:0007268]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]; neuropeptide signaling pathway [GO:0007218]; spermatogenesis [GO:0007283]


uniprotID: Q14566
geneSymbol: MCM6
reactome: R-HSA-176187;R-HSA-176974;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69052;
pdb: 2KLQ;2LE8;
name: DNA replication licensing factor MCM6 (EC 3.6.4.12) (p105MCM)
length: 821
go: ENSG00000076003;
snps: rs3087355 rs4988283
location: SUBCELLULAR LOCATION: Nucleus. Note=Binds to chromatin during G1 and detach from it during S phase.
sequence:

opentargets:
MCM complex [GO:0042555]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA helicase activity [GO:0003678]; identical protein binding [GO:0042802]; single-stranded DNA binding [GO:0003697]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; DNA unwinding involved in DNA replication [GO:0006268]; G1/S transition of mitotic cell cycle [GO:0000082]


uniprotID: Q8IZK6
geneSymbol: MCOLN2
reactome: R-HSA-3295583;
name: Mucolipin-2 (Transient receptor potential channel mucolipin 2) (TRPML2)
length: 566
go: ENSG00000153898;
snps: rs17117841 rs6704203
sequence:

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; calcium channel activity [GO:0005262]; NAADP-sensitive calcium-release channel activity [GO:0072345]; adaptive immune response [GO:0002250]; calcium ion transmembrane transport [GO:0070588]; chemokine (C-C motif) ligand 2 secretion [GO:0035926]; innate immune response [GO:0045087]; macrophage migration [GO:1905517]; neutrophil migration [GO:1990266]; positive regulation of chemokine (C-C motif) ligand 5 production [GO:0071651]; positive regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000343]; positive regulation of macrophage inflammatory protein 1 alpha production [GO:0071642]; positive regulation of monocyte chemotactic protein-1 production [GO:0071639]; protein complex oligomerization [GO:0051259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZK6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IZK6-2; Sequence=VSP_034642; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17662026}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F6RG56}. Late endosome membrane {ECO:0000269|PubMed:17662026}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F6RG56}. Lysosome membrane {ECO:0000269|PubMed:17662026}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F6RG56}. Recycling endosome membrane {ECO:0000269|PubMed:17662026}; Multi-pass membrane protein {ECO:0000250|UniProtKB:F6RG56}. Note=Localizes to recycling endosomes in activated macrophages and microglia. {ECO:0000250|UniProtKB:Q8K595}.


uniprotID: Q8TDD5
geneSymbol: MCOLN3
reactome: R-HSA-3295583;
pdb: 6AYE;6AYF;6AYG;
name: Mucolipin-3 (Transient receptor potential channel mucolipin 3) (TRPML3)
length: 553
go: ENSG00000055732;
sequence:

opentargets:
autophagosome membrane [GO:0000421]; early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; lipid binding [GO:0008289]; NAADP-sensitive calcium-release channel activity [GO:0072345]; calcium ion transmembrane transport [GO:0070588]; inner ear auditory receptor cell differentiation [GO:0042491]; locomotory behavior [GO:0007626]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDD5-1; Sequence=Displayed; Name=2; IsoId=Q8TDD5-2; Sequence=VSP_010823; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19522758, ECO:0000269|PubMed:29106414}; Multi-pass membrane protein {ECO:0000269|PubMed:29106414}. Early endosome membrane {ECO:0000269|PubMed:19497048, ECO:0000269|PubMed:19522758}; Multi-pass membrane protein {ECO:0000269|PubMed:29106414}. Late endosome membrane {ECO:0000269|PubMed:19497048, ECO:0000269|PubMed:19522758}; Multi-pass membrane protein {ECO:0000269|PubMed:29106414}. Lysosome membrane {ECO:0000269|PubMed:19522758}; Multi-pass membrane protein {ECO:0000269|PubMed:29106414}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:19522758}. Note=Recycles between the plasma membrane and intracellular compartments by a dynamin-dependent endocytic pathway (PubMed:19522758). Under normal conditions, only a very minor proportion is present at the cell membrane (PubMed:19522758). In the cochlea located at the base of stereocilia near the position of the ankle links (By similarity). {ECO:0000250|UniProtKB:Q8R4F0, ECO:0000269|PubMed:19522758}.


uniprotID: P33992
geneSymbol: MCM5
reactome: R-HSA-176187;R-HSA-176974;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69052;
name: DNA replication licensing factor MCM5 (EC 3.6.4.12) (CDC46 homolog) (P1-CDC46)
length: 734
go: ENSG00000100297;
snps: rs2307334 rs2307340 rs2230933 rs1131692169
sequence:

opentargets:
cytosol [GO:0005829]; MCM complex [GO:0042555]; membrane [GO:0016020]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA replication origin binding [GO:0003688]; helicase activity [GO:0004386]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28198391}. Cytoplasm, cytosol {ECO:0000269|PubMed:28198391}.


uniprotID: Q6DN14
geneSymbol: MCTP1
name: Multiple C2 and transmembrane domain-containing protein 1
length: 999
go: ENSG00000175471;
snps: rs9885412
sequence:

opentargets:
cell junction [GO:0030054]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; recycling endosome [GO:0055037]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-mediated signaling [GO:0019722]; negative regulation of cell migration [GO:0030336]; negative regulation of endocytosis [GO:0045806]; negative regulation of response to oxidative stress [GO:1902883]; regulation of neuronal synaptic plasticity [GO:0048168]; regulation of neurotransmitter secretion [GO:0046928]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=MCTP1L; IsoId=Q6DN14-1; Sequence=Displayed; Name=2; Synonyms=MCTP1S; IsoId=Q6DN14-2; Sequence=VSP_026656, VSP_026657; Name=3; IsoId=Q6DN14-3; Sequence=VSP_026656, VSP_026657, VSP_026658, VSP_026659; Name=4; IsoId=Q6DN14-4; Sequence=VSP_026656, VSP_026657, VSP_026660, VSP_026661; Name=5; IsoId=Q6DN14-5; Sequence=VSP_026655; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:D4ABL6}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome {ECO:0000250|UniProtKB:D4ABL6}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:A1ZBD6}.


uniprotID: Q71F56
geneSymbol: MED13L
reactome: R-HSA-1989781;R-HSA-381340;
length: 2210
go: ENSG00000123066;
snps: rs28940309 rs28940310 rs121918333
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 13-like (Mediator complex subunit 13-like) (Thyroid hormone receptor-associated protein 2) (Thyroid hormone receptor-associated protein complex 240 kDa component-like)

sequence:

opentargets:
mediator complex [GO:0016592]; transcription coregulator activity [GO:0003712]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: A0A1B0GVS7
geneSymbol: MDFIC2
name: MyoD family inhibitor domain-containing protein 2
length: 189
go: ENSG00000242120;
sequence:
MSETELEKIKVRTAEHLENDKNNISWLKEDTQLTNAKHADEKPINAIVINSVSDFNITDGPAKENPNEKKLSESSTSLSSLEECQTTFSYLQTDTSVHHRDTDEECASLILACLFCQFWDCLLMLPGTCETVCTKMCCPSRRYHHTSDENHSRNDCSCNCDMDCSLFESCHETSECLELAMEISEICYR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0A1B0GVS7-1; Sequence=Displayed; Name=2; IsoId=A0A1B0GVS7-2; Sequence=VSP_059068; 


uniprotID: Q5I0G3
geneSymbol: MDH1B
name: Putative malate dehydrogenase 1B (EC 1.1.1.-)
length: 518
go: ENSG00000138400;
snps: rs2287631 rs2287632
sequence:

opentargets:
L-malate dehydrogenase activity [GO:0030060]; carbohydrate metabolic process [GO:0005975]; malate metabolic process [GO:0006108]; NADH metabolic process [GO:0006734]; oxaloacetate metabolic process [GO:0006107]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5I0G3-1; Sequence=Displayed; Name=2; IsoId=Q5I0G3-2; Sequence=VSP_033201; Name=3; IsoId=Q5I0G3-3; Sequence=VSP_033199, VSP_033200; 


uniprotID: O15151
geneSymbol: MDM4
reactome: R-HSA-2559580;R-HSA-2559585;R-HSA-5689880;R-HSA-6804756;R-HSA-6804757;R-HSA-6804760;R-HSA-69541;
length: 490
go: ENSG00000198625;
snps: rs4252716 rs4252741
location: SUBCELLULAR LOCATION: Nucleus.
pdb:
2CR8;2MWY;2N06;2N0U;2N0W;2N14;2VJE;2VJF;2VYR;3DAB;3EQY;3FDO;3FE7;3FEA;3JZO;3JZP;3JZQ;3LBJ;3MQR;3U15;4RXZ;5MNJ;5UML;5VK1;

name:
Protein Mdm4 (Double minute 4 protein) (Mdm2-like p53-binding protein) (Protein Mdmx) (p53-binding protein Mdm4)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; cellular response to hypoxia [GO:0071456]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; G0 to G1 transition [GO:0045023]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; protein-containing complex assembly [GO:0065003]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O15151-1; Sequence=Displayed; Name=2; Synonyms=MDMX-S; IsoId=O15151-2; Sequence=VSP_035669; Note=No experimental confirmation available.; Name=3; Synonyms=MDMX; IsoId=O15151-3; Sequence=VSP_035670; Note=No experimental confirmation available.; Name=HDMX211; IsoId=O15151-4; Sequence=VSP_042563; Note=Cancer-specific isoform, may counteract MDM2/MDM4-mediated p53 degradation.; Name=5; IsoId=O15151-5; Sequence=VSP_043145; Note=No experimental confirmation available.; 


uniprotID: Q9NU22
geneSymbol: MDN1
name: Midasin (Dynein-related AAA-ATPase MDN1) (MIDAS-containing protein)
length: 5596
go: ENSG00000112159;
sequence:

opentargets:
cytosol [GO:0005829]; intermediate filament cytoskeleton [GO:0045111]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; unfolded protein binding [GO:0051082]; protein-containing complex assembly [GO:0065003]; ribosomal large subunit assembly [GO:0000027]; rRNA processing [GO:0006364]

snps:
rs4707569 rs12110451 rs34764513 rs4140446 rs16882099 rs34208137 rs12530146 rs9294445 rs34766278 rs17293121 rs9353689 rs35509794 rs16882046 rs36040566 rs4707557 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:22002106}. Nucleus, nucleoplasm {ECO:0000269|PubMed:26601951}. Cytoplasm {ECO:0000269|PubMed:26601951}.


uniprotID: P21439
geneSymbol: ABCB4
reactome: R-HSA-1989781;R-HSA-382556;R-HSA-5678771;
length: 1286
go: ENSG00000005471;
drug: DB01394;DB06414;DB06207;
name:
Phosphatidylcholine translocator ABCB4 (ATP-binding cassette sub-family B member 4) (Multidrug resistance protein 3) (EC 7.6.2.2) (P-glycoprotein 3)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; intercellular canaliculus [GO:0046581]; membrane [GO:0016020]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; phosphatidylcholine transporter activity [GO:0008525]; phosphatidylcholine-translocating ATPase activity [GO:0090554]; phospholipid transporter activity [GO:0005548]; xenobiotic transmembrane transporting ATPase activity [GO:0008559]; bile acid secretion [GO:0032782]; cellular response to bile acid [GO:1903413]; ceramide translocation [GO:0099040]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; phospholipid translocation [GO:0045332]; positive regulation of cholesterol transport [GO:0032376]; positive regulation of phospholipid translocation [GO:0061092]; positive regulation of phospholipid transport [GO:2001140]; regulation of lipid metabolic process [GO:0019216]; response to drug [GO:0042493]; response to fenofibrate [GO:1901557]; transmembrane transport [GO:0055085]

snps:
rs142794414 rs372685632 rs780641693 rs8187788 rs377268767 rs1021988376 rs72552781 rs757693457 rs58238559 rs753318087 rs45596335 rs45547936 rs765478923 rs72552779 rs72552778 rs67876345 rs1168923653 rs72552777 rs121918443 rs763807769 rs375315619 rs8187797 rs66904256 rs121918441 rs761238221 rs45575636 rs72552776 rs571555115 rs372476723 rs972726699 rs45476795 rs2230028 rs988987669 rs72552773 rs138773456 rs141677867 rs970324585 rs147134978 rs148052192 rs8187801 rs61730509 rs779829759 rs759787957 rs1051861187 rs56187107 rs1214110864 rs121918442 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P21439-1; Sequence=Displayed; Name=2; IsoId=P21439-2; Sequence=VSP_023263; Name=3; IsoId=P21439-3; Sequence=VSP_046258, VSP_023263; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23468132, ECO:0000269|PubMed:24045840, ECO:0000269|PubMed:24806754, ECO:0000269|PubMed:28012258}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}. Apical cell membrane {ECO:0000269|PubMed:15258199, ECO:0000269|PubMed:19674157, ECO:0000269|PubMed:21820390, ECO:0000269|PubMed:24122873, ECO:0000269|PubMed:24594635, ECO:0000269|PubMed:24723470, ECO:0000269|PubMed:8898203}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}. Membrane raft {ECO:0000269|PubMed:23468132}. Cytoplasm {ECO:0000269|PubMed:24045840}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:Q08201}. Note=Localized at the apical canalicular membrane of the epithelial cells lining the lumen of the bile canaliculi and biliary ductules (By similarity). Transported from the Golgi to the apical bile canalicular membrane in a RACK1-dependent manner (PubMed:19674157). Redistributed into pseudocanaliculi formed between cells in a bezafibrate- or PPARA-dependent manner (PubMed:15258199). Localized preferentially in lipid nonraft domains of canalicular plasma membranes (PubMed:23468132). {ECO:0000250|UniProtKB:P21440, ECO:0000269|PubMed:15258199, ECO:0000269|PubMed:19674157, ECO:0000269|PubMed:23468132}.


uniprotID: O60244
geneSymbol: MED14
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 1454
go: ENSG00000180182;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 14 (Activator-recruited cofactor 150 kDa component) (ARC150) (Cofactor required for Sp1 transcriptional activation subunit 2) (CRSP complex subunit 2) (Mediator complex subunit 14) (RGR1 homolog) (hRGR1) (Thyroid hormone receptor-associated protein complex 170 kDa component) (Trap170) (Transcriptional coactivator CRSP150) (Vitamin D3 receptor-interacting protein complex 150 kDa component) (DRIP150)

sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor activity [GO:0038023]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q9UHV7
geneSymbol: MED13
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 2174
go: ENSG00000108510;
snps: rs34805963 rs35996128
location: SUBCELLULAR LOCATION: Nucleus.
name:
Mediator of RNA polymerase II transcription subunit 13 (Activator-recruited cofactor 250 kDa component) (ARC250) (Mediator complex subunit 13) (Thyroid hormone receptor-associated protein 1) (Thyroid hormone receptor-associated protein complex 240 kDa component) (Trap240) (Vitamin D3 receptor-interacting protein complex component DRIP250) (DRIP250)

sequence:

opentargets:
mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; cholesterol homeostasis [GO:0042632]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; negative regulation of thyroid hormone receptor activity [GO:1904168]; 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]; transcription initiation from RNA polymerase II promoter [GO:0006367]; triglyceride homeostasis [GO:0070328]


uniprotID: Q9NVC6
geneSymbol: MED17
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 651
go: ENSG00000042429;
snps: rs2848477 rs35313315 rs267607232
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 17 (Activator-recruited cofactor 77 kDa component) (ARC77) (Cofactor required for Sp1 transcriptional activation subunit 6) (CRSP complex subunit 6) (Mediator complex subunit 17) (Thyroid hormone receptor-associated protein complex 80 kDa component) (Trap80) (Transcriptional coactivator CRSP77) (Vitamin D3 receptor-interacting protein complex 80 kDa component) (DRIP80)

sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVC6-1; Sequence=Displayed; Name=2; IsoId=Q9NVC6-2; Sequence=VSP_028115, VSP_028116; Note=May be due to intron retention.; 


uniprotID: Q13503
geneSymbol: MED21
reactome: R-HSA-1989781;R-HSA-381340;
length: 144
go: ENSG00000152944;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 21 (Mediator complex subunit 21) (RNA polymerase II holoenzyme component SRB7) (RNAPII complex component SRB7) (hSrb7)

sequence:
MADRLTQLQDAVNSLADQFCNAIGVLQQCGPPASFNNIQTAINKDQPANPTEEYAQLFAALIARTAKDIDVLIDSLPSEESTAALQAASLYKLEEENHEAATCLEDVVYRGDMLLEKIQSALADIAQSQLKTRSGTHSQSLPDS

opentargets:
mediator complex [GO:0016592]; ubiquitin ligase complex [GO:0000151]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase activity [GO:0061630]; blastocyst development [GO:0001824]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell population maintenance [GO:0019827]


uniprotID: O75448
geneSymbol: MED24
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 989
go: ENSG00000008838;
snps: rs34585432
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 24 (Activator-recruited cofactor 100 kDa component) (ARC100) (Cofactor required for Sp1 transcriptional activation subunit 4) (CRSP complex subunit 4) (Mediator complex subunit 24) (Thyroid hormone receptor-associated protein 4) (Thyroid hormone receptor-associated protein complex 100 kDa component) (Trap100) (hTRAP100) (Vitamin D3 receptor-interacting protein complex 100 kDa component) (DRIP100)

sequence:

opentargets:
mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; transcription coregulator activity [GO:0003712]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75448-1; Sequence=Displayed; Name=2; IsoId=O75448-2; Sequence=VSP_041125; 


uniprotID: Q71SY5
geneSymbol: MED25
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
pdb: 2KY6;2L23;2L6U;2XNF;
length: 747
go: ENSG00000104973;
snps: rs794729668 rs781140315 rs145770066
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14657022}.
name:
Mediator of RNA polymerase II transcription subunit 25 (Activator interaction domain-containing protein 1) (Activator-recruited cofactor 92 kDa component) (ARC92) (Mediator complex subunit 25) (p78)

sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; retinoic acid receptor binding [GO:0042974]; retinoid X receptor binding [GO:0046965]; transcription factor binding [GO:0008134]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of chromatin binding [GO:0035563]; positive regulation of mediator complex assembly [GO:2001178]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q71SY5-1; Sequence=Displayed; Name=2; IsoId=Q71SY5-2; Sequence=VSP_028144; Name=3; IsoId=Q71SY5-3; Sequence=VSP_028145; Note=No experimental confirmation available.; Name=4; IsoId=Q71SY5-4; Sequence=VSP_028146; Note=No experimental confirmation available.; Name=5; IsoId=Q71SY5-5; Sequence=VSP_028143; Note=No experimental confirmation available.; Name=6; IsoId=Q71SY5-6; Sequence=VSP_047570; 


uniprotID: Q9ULK4
geneSymbol: MED23
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
pdb: 6H02;
length: 1368
go: ENSG00000112282;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 23 (Activator-recruited cofactor 130 kDa component) (ARC130) (Cofactor required for Sp1 transcriptional activation subunit 3) (CRSP complex subunit 3) (Mediator complex subunit 23) (Protein sur-2 homolog) (hSur-2) (Transcriptional coactivator CRSP130) (Vitamin D3 receptor-interacting protein complex 130 kDa component) (DRIP130)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor complex [GO:0005667]; transcription coactivator activity [GO:0003713]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9ULK4-1; Sequence=Displayed; Name=2; IsoId=Q9ULK4-2; Sequence=VSP_004034, VSP_004036, VSP_004037; Name=3; IsoId=Q9ULK4-3; Sequence=VSP_004034, VSP_004035; Name=4; IsoId=Q9ULK4-4; Sequence=VSP_004035; Name=5; IsoId=Q9ULK4-5; Sequence=VSP_028380; Name=6; IsoId=Q9ULK4-6; Sequence=VSP_047860, VSP_047861; 


uniprotID: Q9NPJ6
geneSymbol: MED4
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 270
go: ENSG00000136146;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Mediator of RNA polymerase II transcription subunit 4 (Activator-recruited cofactor 36 kDa component) (ARC36) (Mediator complex subunit 4) (TRAP/SMCC/PC2 subunit p36 subunit) (Vitamin D3 receptor-interacting protein complex 36 kDa component) (DRIP36)

sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; transcription coregulator activity [GO:0003712]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPJ6-1; Sequence=Displayed; Name=2; IsoId=Q9NPJ6-2; Sequence=VSP_047072; 


uniprotID: Q9NX70
geneSymbol: MED29
reactome: R-HSA-1989781;R-HSA-381340;
length: 200
go: ENSG00000063322;
opentargets: mediator complex [GO:0016592]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15555573}.
name:
Mediator of RNA polymerase II transcription subunit 29 (Intersex-like protein) (Mediator complex subunit 29)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NX70-1; Sequence=Displayed; Name=2; IsoId=Q9NX70-2; Sequence=VSP_056133, VSP_056134; Note=No experimental confirmation available.; 


uniprotID: Q06413
geneSymbol: MEF2C
reactome: R-HSA-198753;R-HSA-2151201;R-HSA-375170;R-HSA-400253;
name: Myocyte-specific enhancer factor 2C (Myocyte enhancer factor 2C)
length: 473
go: ENSG00000081189;
snps: rs796052729
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynapse [GO:0098794]; protein-containing complex [GO:0032991]; sarcoplasm [GO:0016528]; activating transcription factor binding [GO:0033613]; AT DNA binding [GO:0003680]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; HMG box domain binding [GO:0071837]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription regulatory region DNA binding [GO:0044212]; apoptotic process [GO:0006915]; B cell homeostasis [GO:0001782]; B cell proliferation [GO:0042100]; B cell receptor signaling pathway [GO:0050853]; blood vessel development [GO:0001568]; blood vessel remodeling [GO:0001974]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cardiac ventricle formation [GO:0003211]; cartilage morphogenesis [GO:0060536]; cell morphogenesis involved in neuron differentiation [GO:0048667]; cellular response to calcium ion [GO:0071277]; cellular response to drug [GO:0035690]; cellular response to fluid shear stress [GO:0071498]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to parathyroid hormone stimulus [GO:0071374]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to trichostatin A [GO:0035984]; chondrocyte differentiation [GO:0002062]; embryonic viscerocranium morphogenesis [GO:0048703]; endochondral ossification [GO:0001958]; epithelial cell proliferation involved in renal tubule morphogenesis [GO:2001013]; excitatory postsynaptic potential [GO:0060079]; germinal center formation [GO:0002467]; glomerulus morphogenesis [GO:0072102]; heart development [GO:0007507]; heart looping [GO:0001947]; humoral immune response [GO:0006959]; learning or memory [GO:0007611]; MAPK cascade [GO:0000165]; melanocyte differentiation [GO:0030318]; monocyte differentiation [GO:0030224]; muscle cell fate determination [GO:0007521]; muscle organ development [GO:0007517]; myotube differentiation [GO:0014902]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of gene expression [GO:0010629]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of ossification [GO:0030279]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vascular associated smooth muscle cell migration [GO:1904753]; negative regulation of vascular endothelial cell proliferation [GO:1905563]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; nephron tubule epithelial cell differentiation [GO:0072160]; nervous system development [GO:0007399]; neural crest cell differentiation [GO:0014033]; neuron development [GO:0048666]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; osteoblast differentiation [GO:0001649]; outflow tract morphogenesis [GO:0003151]; platelet formation [GO:0030220]; positive regulation of alkaline phosphatase activity [GO:0010694]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of behavioral fear response [GO:2000987]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell proliferation in bone marrow [GO:0071864]; positive regulation of gene expression [GO:0010628]; positive regulation of macrophage apoptotic process [GO:2000111]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of protein homodimerization activity [GO:0090073]; positive regulation of skeletal muscle cell differentiation [GO:2001016]; positive regulation of skeletal muscle tissue development [GO:0048643]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; primary heart field specification [GO:0003138]; regulation of AMPA receptor activity [GO:2000311]; regulation of dendritic spine development [GO:0060998]; regulation of germinal center formation [GO:0002634]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of neuron apoptotic process [GO:0043523]; regulation of neurotransmitter secretion [GO:0046928]; regulation of NMDA receptor activity [GO:2000310]; regulation of sarcomere organization [GO:0060297]; regulation of synapse assembly [GO:0051963]; regulation of synaptic activity [GO:0060025]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of transcription, DNA-templated [GO:0006355]; renal tubule morphogenesis [GO:0061333]; response to ischemia [GO:0002931]; roof of mouth development [GO:0060021]; secondary heart field specification [GO:0003139]; sinoatrial valve morphogenesis [GO:0003185]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle tissue development [GO:0007519]; smooth muscle cell differentiation [GO:0051145]; ventricular cardiac muscle cell differentiation [GO:0055012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q06413-1; Sequence=Displayed; Name=2; Synonyms=Muscle; IsoId=Q06413-2; Sequence=VSP_006248; Name=3; Synonyms=hMEF2C-delta32, Brain; IsoId=Q06413-3; Sequence=VSP_006249; Name=4; IsoId=Q06413-4; Sequence=VSP_043339, VSP_006248; Name=5; IsoId=Q06413-5; Sequence=VSP_045478, VSP_006248; Note=No experimental confirmation available.; Name=6; IsoId=Q06413-6; Sequence=VSP_046251, VSP_006248; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A096MJY4}. Cytoplasm, sarcoplasm {ECO:0000250|UniProtKB:A0A096MJY4}.


uniprotID: O15553
geneSymbol: MEFV
reactome: R-HSA-844456;
pdb: 2MPC;2WL1;4CG4;
name: Pyrin (Marenostrin)
length: 781
go: ENSG00000103313;
sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; nucleus [GO:0005634]; ruffle [GO:0001726]; actin binding [GO:0003779]; identical protein binding [GO:0042802]; zinc ion binding [GO:0008270]; inflammatory response [GO:0006954]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of macrophage inflammatory protein 1 alpha production [GO:0071641]; negative regulation of NLRP3 inflammasome complex assembly [GO:1900226]; positive regulation of autophagy [GO:0010508]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; response to interferon-gamma [GO:0034341]

snps:
rs11466016 rs61754767 rs104895103 rs11466018 rs3743930 rs104895076 rs104895106 rs104895079 rs104895143 rs104895179 rs224222 rs104895080 rs104895081 rs104895119 rs75977701 rs104895110 rs11466023 rs11466024 rs11466026 rs104895104 rs104895105 rs104895083 rs1057516210 rs104895193 rs11466043 rs11466045 rs967990798 rs104895128 rs104895115 rs104895147 rs104895107 rs104895108 rs104895085 rs104895086 rs104895120 rs104895087 rs104895088 rs28940580 rs104895089 rs104895090 rs104895122 rs28940578 rs61752717 rs61752717 rs104895094 rs104895094 rs104895166 rs104895096 rs104895145 rs104895102 rs28940579 rs104895152 rs61732874 rs104895114 rs104895097 rs104895154 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=FL; IsoId=O15553-2; Sequence=Displayed; Name=2; Synonyms=D2; IsoId=O15553-1; Sequence=VSP_008223; Name=3; IsoId=O15553-3; Sequence=VSP_008223, VSP_047663; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell projection, lamellipodium. Nucleus. Cytoplasm {ECO:0000269|PubMed:26347139}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:26347139}. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. In pre-apoptotic cells, colocalizes with PYCARD/ASC in large specks (inflammasomes). In migrating monocytes, strongly polarized at the leading edge of the cell where it colocalizes with polymerizing actin and PYCARD/ASC.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.


uniprotID: Q96KG7
geneSymbol: MEGF10
name: Multiple epidermal growth factor-like domains protein 10 (Multiple EGF-like domains protein 10)
length: 1140
go: ENSG00000145794;
snps: rs387907074 rs3812054 rs387907073 rs387907072 rs13183625 rs17164935
sequence:

opentargets:
cell projection [GO:0042995]; integral component of membrane [GO:0016021]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; complement component C1q binding [GO:0001849]; Notch binding [GO:0005112]; scavenger receptor activity [GO:0005044]; apoptotic process involved in development [GO:1902742]; engulfment of apoptotic cell [GO:0043652]; homotypic cell-cell adhesion [GO:0034109]; muscle cell development [GO:0055001]; muscle cell proliferation [GO:0033002]; myoblast migration [GO:0051451]; recognition of apoptotic cell [GO:0043654]; regulation of muscle cell differentiation [GO:0051147]; regulation of skeletal muscle tissue development [GO:0048641]; skeletal muscle satellite cell activation [GO:0014719]; skeletal muscle satellite cell differentiation [GO:0014816]; skeletal muscle satellite cell proliferation [GO:0014841]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96KG7-1; Sequence=Displayed; Name=2; IsoId=Q96KG7-2; Sequence=VSP_029244, VSP_029245; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27170117}; Single-pass type I membrane protein. Cell projection, phagocytic cup {ECO:0000269|PubMed:17205124}. Note=Enriched at the sites of contact with apoptotic thymocyte cells (PubMed:17205124). Forms an irregular, mosaic-like adhesion pattern in region of the cell surface that becomes firmely fixed to the substrate. Expressed at the cell surface in clusters around cell corpses during engulfment. During the engulfment of apoptotic thymocytes, recruited at the bottom of the forming phagocytic cup (PubMed:17498693). Colocalizes with ABCA1 in absence of any phagocytic challenge (PubMed:17205124). Does not localize within lamellipodia (PubMed:17498693). Does not localize with MEGF11 (PubMed:17498693). {ECO:0000269|PubMed:17205124, ECO:0000269|PubMed:17498693}.


uniprotID: O75095
geneSymbol: MEGF6
length: 1541
go: ENSG00000162591;
opentargets: extracellular region [GO:0005576]; calcium ion binding [GO:0005509]
snps: rs7513275 rs2794340 rs11585362 rs947345 rs2821008 rs7553399 rs4648506 rs57804877 rs57484147
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Multiple epidermal growth factor-like domains protein 6 (Multiple EGF-like domains protein 6) (Epidermal growth factor-like protein 3) (EGF-like protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75095-1; Sequence=Displayed; Name=2; IsoId=O75095-2; Sequence=VSP_037740, VSP_037741, VSP_037742, VSP_037743, VSP_037744; Note=No experimental confirmation available.; 


uniprotID: Q7Z7M0
geneSymbol: MEGF8
length: 2845
go: ENSG00000105429;
snps: rs397515427 rs397515428
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Multiple epidermal growth factor-like domains protein 8 (Multiple EGF-like domains protein 8) (Epidermal growth factor-like protein 4) (EGF-like protein 4)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; BMP signaling pathway [GO:0030509]; cell migration involved in gastrulation [GO:0042074]; coronary vasculature development [GO:0060976]; craniofacial suture morphogenesis [GO:0097094]; determination of digestive tract left/right asymmetry [GO:0071907]; determination of heart left/right asymmetry [GO:0061371]; embryonic heart tube left/right pattern formation [GO:0060971]; embryonic heart tube morphogenesis [GO:0003143]; embryonic limb morphogenesis [GO:0030326]; embryonic skeletal system morphogenesis [GO:0048704]; epiboly involved in gastrulation with mouth forming second [GO:0055113]; fasciculation of sensory neuron axon [GO:0097155]; left/right pattern formation [GO:0060972]; limb morphogenesis [GO:0035108]; negative regulation of smoothened signaling pathway [GO:0045879]; positive regulation of axon extension involved in axon guidance [GO:0048842]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z7M0-1; Sequence=Displayed; Name=2; IsoId=Q7Z7M0-2; Sequence=VSP_036067; 


uniprotID: Q5TIA1
geneSymbol: MEI1
name: Meiosis inhibitor protein 1 (Meiosis defective protein 1)
length: 1274
go: ENSG00000167077;
snps: rs17002655 rs17002665 rs12484839
sequence:

opentargets:
cell [GO:0005623]; male meiosis I [GO:0007141]; meiotic telomere clustering [GO:0045141]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1 {ECO:0000269|PubMed:10591208}; IsoId=Q5TIA1-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:16683055}; Synonyms=Long {ECO:0000269|PubMed:16683055}; IsoId=Q5TIA1-2; Sequence=VSP_052885; Name=3 {ECO:0000269|PubMed:16683055}; Synonyms=Short {ECO:0000269|PubMed:16683055}; IsoId=Q5TIA1-3; Sequence=VSP_052885, VSP_052889; Name=4 {ECO:0000269|PubMed:15489334}; IsoId=Q5TIA1-4; Sequence=VSP_052887, VSP_052888; Note=No experimental confirmation available. {ECO:0000305}; Name=5 {ECO:0000269|PubMed:14702039}; IsoId=Q5TIA1-5; Sequence=VSP_052884, VSP_052891; Note=No experimental confirmation available. {ECO:0000305}; Name=6 {ECO:0000269|PubMed:15489334}; IsoId=Q5TIA1-6; Sequence=VSP_052886; Note=No experimental confirmation available. {ECO:0000305}; Name=7 {ECO:0000269|PubMed:10591208, ECO:0000269|PubMed:15489334}; IsoId=Q5TIA1-7; Sequence=VSP_052883, VSP_052890; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: A0A087WXM9
geneSymbol: MEIKIN
name: Meiosis-specific kinetochore protein
length: 373
go: ENSG00000239642;
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome, centromeric region [GO:0000780]; female meiosis chromosome segregation [GO:0016321]; homologous chromosome segregation [GO:0045143]; male meiosis chromosome segregation [GO:0007060]; meiotic sister chromatid cohesion involved in meiosis I [GO:0010789]; meiotic sister chromatid cohesion, centromeric [GO:0051754]

location:
SUBCELLULAR LOCATION: Chromosome, centromere {ECO:0000250|UniProtKB:Q5F2C3}. Chromosome, centromere, kinetochore {ECO:0000250|UniProtKB:Q5F2C3}. Note=Localizes at kinetochores in meiosis I but undetectable in meiosis II. {ECO:0000250|UniProtKB:Q5F2C3}.


uniprotID: A2RUB1
geneSymbol: MEIOC
length: 952
go: ENSG00000180336;
snps: rs8073475 rs9907151
name:
Meiosis-specific coiled-coil domain-containing protein MEIOC (Meiosis-specific with coiled-coil domain protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; chromosome organization involved in meiotic cell cycle [GO:0070192]; double-strand break repair [GO:0006302]; female meiosis I [GO:0007144]; germline cell cycle switching, mitotic to meiotic cell cycle [GO:0051729]; male meiosis I [GO:0007141]; metaphase plate congression [GO:0051310]; mRNA stabilization [GO:0048255]; oocyte development [GO:0048599]; spermatid development [GO:0007286]; synaptonemal complex assembly [GO:0007130]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A2RUB1-4; Sequence=Displayed; Name=2; IsoId=A2RUB1-2; Sequence=VSP_038971; Name=3; IsoId=A2RUB1-1; Sequence=VSP_038971, VSP_038972, VSP_038973; Name=4; IsoId=A2RUB1-5; Sequence=VSP_038972, VSP_038973; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AG06}. Nucleus {ECO:0000250|UniProtKB:A2AG06}. Note=at late pachytene a fraction is nuclear. {ECO:0000250|UniProtKB:A2AG06}.


uniprotID: P50222
geneSymbol: MEOX2
name: Homeobox protein MOX-2 (Growth arrest-specific homeobox) (Mesenchyme homeobox 2)
length: 304
go: ENSG00000106511;
snps: rs2237493
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; angiogenesis [GO:0001525]; blood circulation [GO:0008015]; limb development [GO:0060173]; multicellular organism development [GO:0007275]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; positive regulation of transcription by RNA polymerase II [GO:0045944]; roof of mouth development [GO:0060021]; skeletal muscle tissue development [GO:0007519]; somite development [GO:0061053]; somite specification [GO:0001757]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19266028, ECO:0000269|PubMed:22206000}. Nucleus speckle {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:19266028}.


uniprotID: Q9NQ76
geneSymbol: MEPE
reactome: R-HSA-381426;R-HSA-8957275;
name: Matrix extracellular phosphoglycoprotein (Osteoblast/osteocyte factor 45) (OF45) (Osteoregulin)
length: 525
go: ENSG00000152595;
snps: rs17013285
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular matrix protein binding [GO:1990430]; extracellular matrix structural constituent [GO:0005201]; biomineral tissue development [GO:0031214]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQ76-1; Sequence=Displayed; Name=2; IsoId=Q9NQ76-2; Sequence=VSP_043986; Name=3; IsoId=Q9NQ76-3; Sequence=VSP_046892; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:11414762, ECO:0000269|PubMed:15108058}.


uniprotID: Q9UIF7
geneSymbol: MUTYH
reactome: R-HSA-110330;R-HSA-110331;R-HSA-110357;
pdb: 1X51;3N5N;
name: Adenine DNA glycosylase (EC 3.2.2.31) (MutY homolog) (hMYH)
length: 546
go: ENSG00000132781;
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity [GO:0034039]; adenine/guanine mispair binding [GO:0035485]; DNA N-glycosylase activity [GO:0019104]; metal ion binding [GO:0046872]; MutSalpha complex binding [GO:0032407]; oxidized purine DNA binding [GO:0032357]; purine-specific mismatch base pair DNA N-glycosylase activity [GO:0000701]; base-excision repair [GO:0006284]; depurination [GO:0045007]; DNA repair [GO:0006281]; mismatch repair [GO:0006298]

snps:
rs79777494 rs3219484 rs75321043 rs1140507 rs587780746 rs730881832 rs777184451 rs34612342 rs747993448 rs143353451 rs533899702 rs750592289 rs754155145 rs768553551 rs200872702 rs11545695 rs200165598 rs1057517765 rs34126013 rs200495564 rs140342925 rs587780749 rs769237459 rs876659676 rs730881833 rs374950566 rs138089183 rs3219489 rs199742231 rs35352891 rs1060501335 rs36053993 rs529008617 rs121908382 rs121908383 rs144079536 rs150792276 rs587782120 rs200844166 rs192816572 rs767747402 rs587782263 rs587782228 rs3219494 rs140118273 rs587778542 rs374655042 rs3219496 rs3219497 rs151196169 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=Alpha-1; IsoId=Q9UIF7-1; Sequence=Displayed; Name=Alpha-2; IsoId=Q9UIF7-2; Sequence=VSP_010549; Name=Alpha-3; IsoId=Q9UIF7-3; Sequence=VSP_010550; Name=Beta-1; IsoId=Q9UIF7-4; Sequence=VSP_010548; Name=Gamma-2; IsoId=Q9UIF7-5; Sequence=VSP_010548, VSP_010549; Name=Gamma-3; IsoId=Q9UIF7-6; Sequence=VSP_010548, VSP_010550; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25820570}. Mitochondrion {ECO:0000250|UniProtKB:Q99P21}.


uniprotID: Q86XA0
geneSymbol: METTL23
name: Methyltransferase-like protein 23 (EC 2.1.1.-)
length: 190
go: ENSG00000181038;
snps: rs12602772
sequence:
MYVWPCAVVLAQYLWFHRRSLPGKAILEIGAGVSLPGILAAKCGAEVILSDSSELPHCLEVCRQSCQMNNLPHLQVVGLTWGHISWDLLALPPQDIILASDVFFEPEDFEDILATIYFLMHKNPKVQLWSTYQVRSADWSLEALLYKWDMKCVHIPLESFDADKEDIAESTLPGRHTVEMLVISFAKDSL

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; heat shock protein binding [GO:0031072]; methyltransferase activity [GO:0008168]; transcription factor binding [GO:0008134]; cognition [GO:0050890]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XA0-1; Sequence=Displayed; Name=2; IsoId=Q86XA0-2; Sequence=VSP_055637; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23349634}. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=When overexpressed, detected in cytoplasmic membrane-like structures.


uniprotID: Q5JXM2
geneSymbol: METTL24
name: Methyltransferase-like protein 24 (EC 2.1.1.-)
length: 366
go: ENSG00000053328;
opentargets: extracellular region [GO:0005576]; methyltransferase activity [GO:0008168]
snps: rs2334321
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q96IZ6
geneSymbol: METTL2A
name: Methyltransferase-like protein 2A (EC 2.1.1.-)
length: 378
go: ENSG00000087995;
sequence:

opentargets:
tRNA (cytosine) methyltransferase activity [GO:0016427]; tRNA (cytosine-3-)-methyltransferase activity [GO:0052735]; tRNA methylation [GO:0030488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IZ6-1; Sequence=Displayed; Name=2; IsoId=Q96IZ6-2; Sequence=VSP_008477; Note=No experimental confirmation available.; 


uniprotID: Q9H8H3
geneSymbol: METTL7A
reactome: R-HSA-6798695;
name: Methyltransferase-like protein 7A (EC 2.1.1.-) (Protein AAM-B)
length: 244
go: ENSG00000185432;
snps: rs28372674
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; lipid droplet [GO:0005811]; membrane [GO:0016020]; tertiary granule lumen [GO:1904724]; methyltransferase activity [GO:0008168]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Lipid droplet {ECO:0000269|PubMed:18477614, ECO:0000269|PubMed:19773358}. Endoplasmic reticulum {ECO:0000269|PubMed:19773358}. Membrane {ECO:0000269|PubMed:18477614}.


uniprotID: Q9H7H0
geneSymbol: METTL17
length: 456
go: ENSG00000165792;
snps: rs72661115 rs2297717 rs2771350
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
Methyltransferase-like protein 17, mitochondrial (EC 2.1.1.-) (False p73 target gene protein) (Methyltransferase 11 domain-containing protein 1) (Protein RSM22 homolog, mitochondrial)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribosome [GO:0005840]; methyltransferase activity [GO:0008168]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H7H0-1; Sequence=Displayed; Name=2; IsoId=Q9H7H0-2; Sequence=VSP_029720; Note=No experimental confirmation available.; Name=3; IsoId=Q9H7H0-3; Sequence=VSP_029721; 


uniprotID: Q53QV2
geneSymbol: LBH
name: Protein LBH (hLBH) (Limb bud and heart development protein homolog)
length: 105
go: ENSG00000213626;
sequence:
MSIYFPIHCPDYLRSAKMTEVMMNTQPMEEIGLSPRKDGLSYQIFPDPSDFDRCCKLKDRLPSIVVEPTEGEVESGELRWPPEEFLVQEDEQDNCEETAKENKEQ

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of stem cell differentiation [GO:2000737]; positive regulation of mammary stem cell proliferation [GO:2000103]; positive regulation of somatic stem cell division [GO:1904677]; positive regulation of somatic stem cell population maintenance [GO:1904674]; positive regulation of transcription, DNA-templated [GO:0045893]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17390236}. Cytoplasm {ECO:0000269|PubMed:17390236}.


uniprotID: Q6ISS4
geneSymbol: LAIR2
reactome: R-HSA-198933;
name: Leukocyte-associated immunoglobulin-like receptor 2 (LAIR-2) (CD antigen CD306)
length: 152
go: ENSG00000167618;
opentargets: extracellular region [GO:0005576]; regulation of immune response [GO:0050776]
snps: rs36121405 rs34423078 rs34429135
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MSPHLTALLGLVLCLAQTIHTQEGALPRPSISAEPGTVISPGSHVTFMCRGPVGVQTFRLEREDRAKYKDSYNVFRLGPSESEARFHIDSVSEGNAGLYRCLYYKPPGWSEHSDFLELLVKESSGGPDSPDTEPGSSAGTVPGTEASGFDAP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LAIR-2a; IsoId=Q6ISS4-1; Sequence=Displayed; Name=2; Synonyms=LAIR-2b; IsoId=Q6ISS4-2; Sequence=VSP_020720; 


uniprotID: Q8NC56
geneSymbol: LEMD2
reactome: R-HSA-2993913;R-HSA-2995383;R-HSA-4419969;
name: LEM domain-containing protein 2 (hLEM2)
length: 503
go: ENSG00000161904;
snps: rs878852983
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; heart formation [GO:0060914]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of protein kinase B signaling [GO:0051898]; neurogenesis [GO:0022008]; nuclear envelope organization [GO:0006998]; protein localization to chromatin [GO:0071168]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NC56-1; Sequence=Displayed; Name=2; IsoId=Q8NC56-2; Sequence=VSP_044847; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:16339967, ECO:0000269|PubMed:17097643}; Multi-pass membrane protein {ECO:0000269|PubMed:16339967}. Note=Lamina-associated protein residing in the inner nuclear membrane (INM). Localized exclusively to the nuclear envelope, giving rise to a typical rim-like staining of the nuclear periphery.


uniprotID: O15480
geneSymbol: MAGEB3
name: Melanoma-associated antigen B3 (MAGE-B3 antigen)
length: 346
go: ENSG00000198798;
snps: rs2071308 rs2071309
sequence:


uniprotID: Q9H0U3
geneSymbol: MAGT1
reactome: R-HSA-446203;R-HSA-5223345;R-HSA-6798695;
name: Magnesium transporter protein 1 (MagT1) (Implantation-associated protein) (IAP)
length: 335
go: ENSG00000102158;
snps: rs145245774
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; endoplasmic reticulum [GO:0005783]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; oligosaccharyltransferase complex [GO:0008250]; plasma membrane [GO:0005886]; magnesium ion transmembrane transporter activity [GO:0015095]; cognition [GO:0050890]; magnesium ion transport [GO:0015693]; neutrophil degranulation [GO:0043312]; protein N-linked glycosylation [GO:0006487]; protein N-linked glycosylation via asparagine [GO:0018279]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0U3-1; Sequence=Displayed; Name=2; IsoId=Q9H0U3-2; Sequence=VSP_056556, VSP_056557; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19717468}; Multi-pass membrane protein {ECO:0000269|PubMed:19717468}. Endoplasmic reticulum {ECO:0000269|PubMed:25135935}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: O60732
geneSymbol: MAGEC1
name: Melanoma-associated antigen C1 (Cancer/testis antigen 7.1) (CT7.1) (MAGE-C1 antigen)
length: 1142
go: ENSG00000155495;
snps: rs176036 rs176037 rs176047 rs75148863 rs176047 rs56256227
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60732-1; Sequence=Displayed; Name=2; IsoId=O60732-2; Sequence=VSP_056382; Note=No experimental confirmation available.; 


uniprotID: P20916
geneSymbol: MAG
reactome: R-HSA-193634;R-HSA-210991;
name: Myelin-associated glycoprotein (Siglec-4a)
length: 626
go: ENSG00000105695;
snps: rs762045079 rs2301600 rs11084810 rs587777229
sequence:

opentargets:
compact myelin [GO:0043218]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; mesaxon [GO:0097453]; myelin sheath [GO:0043209]; myelin sheath adaxonal region [GO:0035749]; paranode region of axon [GO:0033270]; plasma membrane [GO:0005886]; Schmidt-Lanterman incisure [GO:0043220]; carbohydrate binding [GO:0030246]; ganglioside GT1b binding [GO:1905576]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; sialic acid binding [GO:0033691]; signaling receptor binding [GO:0005102]; axon regeneration [GO:0031103]; cell adhesion [GO:0007155]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; cellular response to mechanical stimulus [GO:0071260]; central nervous system myelination [GO:0022010]; leukocyte migration [GO:0050900]; negative regulation of axon extension [GO:0030517]; negative regulation of axonogenesis [GO:0050771]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron projection development [GO:0010977]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of myelination [GO:0031643]; substantia nigra development [GO:0021762]; transmission of nerve impulse [GO:0019226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=L-MAG {ECO:0000303|PubMed:9495552}; IsoId=P20916-1; Sequence=Displayed; Name=2; Synonyms=S-MAG {ECO:0000303|PubMed:9495552}; IsoId=P20916-2; Sequence=VSP_042688; Name=3; IsoId=P20916-3; Sequence=VSP_045843; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26179919}; Single-pass type I membrane protein {ECO:0000269|PubMed:26179919}. Membrane raft {ECO:0000250|UniProtKB:P07722}.


uniprotID: Q13495
geneSymbol: MAMLD1
name: Mastermind-like domain-containing protein 1 (F18) (Protein CG1)
length: 774
go: ENSG00000013619;
snps: rs41313406 rs2073043
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18162467}. Note=Punctate nuclear localization.
sequence:

opentargets:
centrosome [GO:0005813]; Golgi apparatus [GO:0005794]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; male gonad development [GO:0008584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13495-1; Sequence=Displayed; Name=2; IsoId=Q13495-3; Sequence=VSP_037654, VSP_037655; Name=3; IsoId=Q13495-4; Sequence=VSP_037654; 


uniprotID: Q9Y2U8
geneSymbol: LEMD3
reactome: R-HSA-2993913;R-HSA-2995383;R-HSA-4419969;
pdb: 2CH0;
name: Inner nuclear membrane protein Man1 (LEM domain-containing protein 3)
length: 911
go: ENSG00000174106;
snps: rs7487311
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of nuclear inner membrane [GO:0005639]; membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; nuclear membrane [GO:0031965]; DNA binding [GO:0003677]; angiogenesis [GO:0001525]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; nuclear envelope organization [GO:0006998]; regulation of intracellular signal transduction [GO:1902531]

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:15647271}; Multi-pass membrane protein {ECO:0000269|PubMed:15647271}.


uniprotID: P21145
geneSymbol: MAL
name: Myelin and lymphocyte protein (T-lymphocyte maturation-associated protein)
length: 153
go: ENSG00000172005;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MAPAAATGGSTLPSGFSVFTTLPDLLFIFEFIFGGLVWILVASSLVPWPLVQGWVMFVSVFCFVATTTLIILYIIGAHGGETSWVTLDAAYHCTAALFYLSASVLEALATITMQDGFTYRHYHENIAAVVFSYIATLLYVVHAVFSLIRWKSS

opentargets:
apical plasma membrane [GO:0016324]; endoplasmic reticulum [GO:0005783]; hinge region between urothelial plaques of apical plasma membrane [GO:0120003]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane raft [GO:0044853]; lipid binding [GO:0008289]; peptidase activator activity involved in apoptotic process [GO:0016505]; structural constituent of myelin sheath [GO:0019911]; apical protein localization [GO:0045176]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; central nervous system development [GO:0007417]; membrane raft polarization [GO:0001766]; myelination [GO:0042552]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; protein insertion into plasma membrane [GO:0098737]; protein localization to paranode region of axon [GO:0002175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=P21145-1; Sequence=Displayed; Name=B; IsoId=P21145-2; Sequence=VSP_003164; Name=C; IsoId=P21145-3; Sequence=VSP_003163; Name=D; IsoId=P21145-4; Sequence=VSP_003162; 


uniprotID: Q5SRI9
geneSymbol: MANEA
reactome: R-HSA-964739;
length: 462
go: ENSG00000172469;
snps: rs780723017
name:
Glycoprotein endo-alpha-1,2-mannosidase (Endo-alpha mannosidase) (Endomannosidase) (hEndo) (EC 3.2.1.130) (Mandaselin)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-mannosidase activity [GO:0004559]; glycoprotein endo-alpha-1,2-mannosidase activity [GO:0004569]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15677381, ECO:0000269|PubMed:15760709}; Single-pass type II membrane protein {ECO:0000269|PubMed:15677381, ECO:0000269|PubMed:15760709}.


uniprotID: Q6UB28
geneSymbol: METAP1D
length: 335
go: ENSG00000172878;
snps: rs10497377
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03174, ECO:0000269|PubMed:14532271}.
name:
Methionine aminopeptidase 1D, mitochondrial (MAP 1D) (MetAP 1D) (EC 3.4.11.18) (Methionyl aminopeptidase type 1D, mitochondrial) (Peptidase M 1D)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; aminopeptidase activity [GO:0004177]; metal ion binding [GO:0046872]; metalloaminopeptidase activity [GO:0070006]; metalloexopeptidase activity [GO:0008235]; N-terminal protein amino acid modification [GO:0031365]; peptidyl-methionine modification [GO:0018206]; protein initiator methionine removal [GO:0070084]


uniprotID: P49137
geneSymbol: MAPKAPK2
length: 400
go: ENSG00000162889;
drug: DB02010;
snps: rs35671930 rs55894011
reactome:
R-HSA-171007;R-HSA-199920;R-HSA-2142691;R-HSA-2559580;R-HSA-3371453;R-HSA-4420097;R-HSA-450302;R-HSA-450385;R-HSA-450513;

pdb:
1KWP;1NXK;1NY3;2JBO;2JBP;2OKR;2ONL;2OZA;2P3G;2PZY;3A2C;3FPM;3FYJ;3FYK;3GOK;3KA0;3KC3;3KGA;3M2W;3M42;3R2B;3R2Y;3R30;3WI6;4TYH;

name:
MAP kinase-activated protein kinase 2 (MAPK-activated protein kinase 2) (MAPKAP kinase 2) (MAPKAP-K2) (MAPKAPK-2) (MK-2) (MK2) (EC 2.7.11.1)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 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]; mitogen-activated protein kinase binding [GO:0051019]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; activation of MAPK activity [GO:0000187]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; inflammatory response [GO:0006954]; inner ear development [GO:0048839]; intracellular signal transduction [GO:0035556]; leukotriene metabolic process [GO:0006691]; macropinocytosis [GO:0044351]; MAPK cascade [GO:0000165]; p38MAPK cascade [GO:0038066]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; protein phosphorylation [GO:0006468]; regulation of cellular response to heat [GO:1900034]; regulation of interleukin-6 production [GO:0032675]; regulation of mRNA stability [GO:0043488]; regulation of tumor necrosis factor production [GO:0032680]; response to cytokine [GO:0034097]; response to lipopolysaccharide [GO:0032496]; toll-like receptor signaling pathway [GO:0002224]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49137-1; Sequence=Displayed; Note=Has a nuclear localization signal.; Name=2; IsoId=P49137-2; Sequence=VSP_004910; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20932473}. Nucleus {ECO:0000269|PubMed:20932473}. Note=Phosphorylation and subsequent activation releases the autoinhibitory helix, resulting in the export from the nucleus into the cytoplasm.


uniprotID: Q16644
geneSymbol: MAPKAPK3
reactome: R-HSA-171007;R-HSA-2559580;R-HSA-4420097;R-HSA-450302;
pdb: 3FHR;3FXW;3R1N;3SHE;
length: 382
go: ENSG00000114738;
snps: rs886037913 rs56107897
name:
MAP kinase-activated protein kinase 3 (MAPK-activated protein kinase 3) (MAPKAP kinase 3) (MAPKAP-K3) (MAPKAPK-3) (MK-3) (EC 2.7.11.1) (Chromosome 3p kinase) (3pK)

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]; MAP kinase kinase activity [GO:0004708]; mitogen-activated protein kinase binding [GO:0051019]; protein serine/threonine kinase activity [GO:0004674]; activation of MAPK activity [GO:0000187]; intracellular signal transduction [GO:0035556]; macropinocytosis [GO:0044351]; peptidyl-serine phosphorylation [GO:0018105]; response to cytokine [GO:0034097]; response to lipopolysaccharide [GO:0032496]; signal transduction [GO:0007165]; toll-like receptor signaling pathway [GO:0002224]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15302577, ECO:0000269|PubMed:26744326}. Cytoplasm {ECO:0000269|PubMed:15302577, ECO:0000269|PubMed:26744326}. Note=Predominantly located in the nucleus, when activated it translocates to the cytoplasm.


uniprotID: Q9NX47
geneSymbol: MARCH5
length: 278
go: ENSG00000198060;
name:
E3 ubiquitin-protein ligase MARCH5 (EC 2.3.2.27) (Membrane-associated RING finger protein 5) (Membrane-associated RING-CH protein V) (MARCH-V) (Mitochondrial ubiquitin ligase) (MITOL) (RING finger protein 153) (RING-type E3 ubiquitin transferase MARCH5)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; GTPase binding [GO:0051020]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; negative regulation of cell aging [GO:0090344]; positive regulation of mitochondrial fission [GO:0090141]; protein autoubiquitination [GO:0051865]; protein localization to mitochondrion [GO:0070585]; protein polyubiquitination [GO:0000209]; regulation of mitochondrial fission [GO:0090140]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:16874301}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000255}. Note=Authors show that the protein can be detected in endoplasmic reticulum (PubMed:14722266). Authors (PubMed:16874301) show its presence only in mitochondria (PubMed:16874301). {ECO:0000269|PubMed:14722266, ECO:0000269|PubMed:16874301}.


uniprotID: P48740
geneSymbol: MASP1
reactome: R-HSA-166662;R-HSA-166663;R-HSA-2855086;R-HSA-3000480;
pdb: 3DEM;3GOV;4AQB;4DJZ;4IGD;4IW4;4KKD;
length: 699
go: ENSG00000127241;
snps: rs1062049 rs13322090 rs3774266
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11485744}.
name:
Mannan-binding lectin serine protease 1 (EC 3.4.21.-) (Complement factor MASP-3) (Complement-activating component of Ra-reactive factor) (Mannose-binding lectin-associated serine protease 1) (MASP-1) (Mannose-binding protein-associated serine protease) (Ra-reactive factor serine protease p100) (RaRF) (Serine protease 5) [Cleaved into: Mannan-binding lectin serine protease 1 heavy chain; Mannan-binding lectin serine protease 1 light chain]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; peptidase activity [GO:0008233]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, lectin pathway [GO:0001867]; negative regulation of complement activation [GO:0045916]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P48740-1; Sequence=Displayed; Name=2; Synonyms=MASP-3; IsoId=P48740-2; Sequence=VSP_036812, VSP_036813; Note=Contains a N-linked (GlcNAc...) asparagine at position 533 (PubMed:16335952). Contains a N-linked (GlcNAc...) asparagine at position 599 (PubMed:16335952). {ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:21258343, ECO:0000269|PubMed:26419238}; Name=3; IsoId=P48740-3; Sequence=VSP_036810, VSP_036811; Name=4; IsoId=P48740-4; Sequence=VSP_036809, VSP_036812, VSP_036813; 


uniprotID: O00187
geneSymbol: MASP2
reactome: R-HSA-166662;R-HSA-166663;R-HSA-2855086;
pdb: 1Q3X;1SZB;1ZJK;3TVJ;4FXG;5JPM;
length: 686
go: ENSG00000009724;
drug: DB04527;
location: SUBCELLULAR LOCATION: Secreted.
name:
Mannan-binding lectin serine protease 2 (EC 3.4.21.104) (MBL-associated serine protease 2) (Mannose-binding protein-associated serine protease 2) (MASP-2) [Cleaved into: Mannan-binding lectin serine protease 2 A chain; Mannan-binding lectin serine protease 2 B chain]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; complement component C4b binding [GO:0001855]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; complement activation, lectin pathway [GO:0001867]

snps:
rs61735600 rs147270785 rs72550870 rs56392418 rs141145402 rs2273343 rs12711521 rs2273346 rs61735594 rs12085877 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00187-1; Sequence=Displayed; Name=2; Synonyms=MAp19, Small MBL-associated protein, sMAP; IsoId=O00187-2; Sequence=VSP_005383, VSP_005384; 


uniprotID: Q86YJ5
geneSymbol: MARCH9
length: 346
go: ENSG00000139266;
snps: rs17856312 rs17850517
name:
E3 ubiquitin-protein ligase MARCH9 (EC 2.3.2.27) (Membrane-associated RING finger protein 9) (Membrane-associated RING-CH protein IX) (MARCH-IX) (RING finger protein 179) (RING-type E3 ubiquitin transferase MARCH9)

sequence:

opentargets:
Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; trans-Golgi network [GO:0005802]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YJ5-1; Sequence=Displayed; Name=2; Synonyms=RINGless; IsoId=Q86YJ5-2; Sequence=VSP_022697; Note=Has no E3 activity due to lack of RINGv-type zinc finger domain but is able to dimerize with and stabilize isoform 1.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17174307}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q8NA82
geneSymbol: MARCH10
length: 808
go: ENSG00000173838;
snps: rs17853369 rs9891498 rs16946335
name:
Probable E3 ubiquitin-protein ligase MARCH10 (EC 2.3.2.27) (Membrane-associated RING finger protein 10) (Membrane-associated RING-CH protein X) (MARCH-X) (RING finger protein 190) (RING-type E3 ubiquitin transferase MARCH10)

sequence:

opentargets:
transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; protein ubiquitination [GO:0016567]


uniprotID: Q7KZI7
geneSymbol: MARK2
pdb: 3IEC;5EAK;5KZ7;5KZ8;
length: 788
go: ENSG00000072518;
name:
Serine/threonine-protein kinase MARK2 (EC 2.7.11.1) (EC 2.7.11.26) (ELKL motif kinase 1) (EMK-1) (MAP/microtubule affinity-regulating kinase 2) (PAR1 homolog) (PAR1 homolog b) (Par-1b) (Par1b)

sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; microtubule bundle [GO:0097427]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; lipid binding [GO:0008289]; magnesium ion binding [GO:0000287]; protein kinase activator activity [GO:0030295]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; tau protein binding [GO:0048156]; tau-protein kinase activity [GO:0050321]; activation of protein kinase activity [GO:0032147]; autophagy of mitochondrion [GO:0000422]; axon development [GO:0061564]; establishment of cell polarity [GO:0030010]; establishment or maintenance of cell polarity regulating cell shape [GO:0071963]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; intracellular signal transduction [GO:0035556]; microtubule cytoskeleton organization [GO:0000226]; mitochondrion localization [GO:0051646]; neuron migration [GO:0001764]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of neuron projection development [GO:0010976]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of axonogenesis [GO:0050770]; regulation of cytoskeleton organization [GO:0051493]; regulation of microtubule binding [GO:1904526]; regulation of microtubule cytoskeleton organization [GO:0070507]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=16;  Name=1 {ECO:0000305}; Synonyms=Alpha; IsoId=Q7KZI7-1; Sequence=Displayed; Note=Produced by alternative promoter usage. No experimental confirmation available.; Name=2 {ECO:0000269|PubMed:9730619}; IsoId=Q7KZI7-2; Sequence=VSP_051705, VSP_051706; Note=Produced by alternative splicing of isoform 6. {ECO:0000269|PubMed:9730619}; Name=3 {ECO:0000269|PubMed:9730619}; IsoId=Q7KZI7-3; Sequence=VSP_051705, VSP_051707; Note=Produced by alternative splicing of isoform 6. {ECO:0000269|PubMed:9730619}; Name=4 {ECO:0000269|PubMed:11433294}; Synonyms=Par-1Balpha {ECO:0000269|PubMed:11433294}; IsoId=Q7KZI7-4; Sequence=VSP_051706, VSP_051707; Note=Produced by alternative splicing of isoform 1. {ECO:0000269|PubMed:11433294}; Name=5; IsoId=Q7KZI7-5; Sequence=VSP_051706, VSP_051708; Note=Produced by alternative splicing of isoform 1.; Name=6 {ECO:0000305}; Synonyms=Beta; IsoId=Q7KZI7-6; Sequence=VSP_051705; Note=Produced by alternative promoter usage. No experimental confirmation available.; Name=7 {ECO:0000305}; IsoId=Q7KZI7-7; Sequence=VSP_051705, VSP_051706, VSP_051707; Note=Produced by alternative splicing of isoform 6. No experimental confirmation available. {ECO:0000305}; Name=8 {ECO:0000305}; IsoId=Q7KZI7-8; Sequence=VSP_051707; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available. {ECO:0000305}; Name=9 {ECO:0000305}; IsoId=Q7KZI7-9; Sequence=VSP_051706; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available. {ECO:0000305}; Name=10 {ECO:0000305}; IsoId=Q7KZI7-10; Sequence=VSP_051705, VSP_051706, VSP_051708; Note=Produced by alternative splicing of isoform 6. No experimental confirmation available. {ECO:0000305}; Name=11 {ECO:0000305}; IsoId=Q7KZI7-11; Sequence=VSP_051708; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available.; Name=12 {ECO:0000305}; IsoId=Q7KZI7-12; Sequence=VSP_051705, VSP_051708; Note=Produced by alternative splicing of isoform 6. No experimental confirmation available. {ECO:0000305}; Name=13; IsoId=Q7KZI7-13; Sequence=VSP_051705, VSP_039872, VSP_051706, VSP_051707; Note=Produced by alternative splicing of isoform 6. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19369195}; Name=14; IsoId=Q7KZI7-14; Sequence=VSP_051705, VSP_039872, VSP_051707; Note=Produced by alternative splicing of isoform 6. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19369195}; Name=15; IsoId=Q7KZI7-15; Sequence=VSP_039872, VSP_051706, VSP_041853; Note=Produced by alternative splicing of isoform 1. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19369195}; Name=16; IsoId=Q7KZI7-16; Sequence=VSP_039872, VSP_051706, VSP_051707; Note=Produced by alternative splicing of isoform 1. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19369195}; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cytoplasm. Lateral cell membrane. Cytoplasm, cytoskeleton. Cell projection, dendrite {ECO:0000269|PubMed:23666762}. Cytoplasm {ECO:0000269|PubMed:23666762}. Note=Phosphorylation at Thr-596 by PRKCZ/aPKC and subsequent interaction with 14-3-3 protein YWHAZ promotes relocation from the cell membrane to the cytoplasm.


uniprotID: P27448
geneSymbol: MARK3
pdb: 2QNJ;3FE3;
length: 753
go: ENSG00000075413;
snps: rs10137161 rs56305318
reactome:
R-HSA-5673000;R-HSA-5674135;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

name:
MAP/microtubule affinity-regulating kinase 3 (EC 2.7.11.1) (C-TAK1) (cTAK1) (Cdc25C-associated protein kinase 1) (ELKL motif kinase 2) (EMK-2) (Protein kinase STK10) (Ser/Thr protein kinase PAR-1) (Par-1a) (Serine/threonine-protein kinase p78)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; establishment of cell polarity [GO:0030010]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of hippo signaling [GO:0035331]; peptidyl-serine autophosphorylation [GO:0036289]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of protein binding [GO:0032092]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=P27448-5; Sequence=Displayed; Name=2; Synonyms=CTAK75a; IsoId=P27448-2; Sequence=VSP_041582, VSP_004944; Name=3; IsoId=P27448-3; Sequence=VSP_004944; Name=4; IsoId=P27448-4; Sequence=VSP_004945; Name=5; Synonyms=p58; IsoId=P27448-6; Sequence=VSP_004943, VSP_004944; Name=6; IsoId=P27448-7; Sequence=VSP_041582, VSP_004943; Name=7; IsoId=P27448-8; Sequence=VSP_043197, VSP_043198; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21145462}; Peripheral membrane protein {ECO:0000269|PubMed:21145462}. Cell projection, dendrite {ECO:0000269|PubMed:23666762}. Cytoplasm {ECO:0000269|PubMed:23666762}.


uniprotID: P35410
geneSymbol: MAS1L
name: Mas-related G-protein coupled receptor MRG (MAS-R) (MAS1-like)
length: 378
go: ENSG00000204687;
snps: rs17184100
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q8TCQ1
geneSymbol: MARCH1
length: 289
go: ENSG00000145416;
name:
E3 ubiquitin-protein ligase MARCH1 (EC 2.3.2.27) (Membrane-associated RING finger protein 1) (Membrane-associated RING-CH protein I) (MARCH-I) (RING finger protein 171) (RING-type E3 ubiquitin transferase MARCH1)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; early endosome membrane [GO:0031901]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; MHC protein binding [GO:0042287]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; antigen processing and presentation of peptide antigen via MHC class II [GO:0002495]; immune response [GO:0006955]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCQ1-1; Sequence=Displayed; Name=2; IsoId=Q8TCQ1-2; Sequence=VSP_022724, VSP_022725; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:Q6NZQ8}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:19117940}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:14722266, ECO:0000269|PubMed:19117940}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:19117940}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9P0N8
geneSymbol: MARCH2
length: 246
go: ENSG00000099785;
snps: rs1133893 rs34099346
name:
E3 ubiquitin-protein ligase MARCH2 (EC 2.3.2.27) (Membrane-associated RING finger protein 2) (Membrane-associated RING-CH protein II) (MARCH-II) (RING finger protein 172) (RING-type E3 ubiquitin transferase MARCH2)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; endocytosis [GO:0006897]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0N8-1; Sequence=Displayed; Name=2; IsoId=Q9P0N8-2; Sequence=VSP_041478; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000269|PubMed:14722266}. Lysosome membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000269|PubMed:14722266}. Endosome membrane {ECO:0000250|UniProtKB:Q5I0I2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q5I0I2}.


uniprotID: Q7Z434
geneSymbol: MAVS
reactome: R-HSA-168928;R-HSA-5689896;R-HSA-918233;R-HSA-933541;R-HSA-933542;R-HSA-933543;R-HSA-936440;
pdb: 2MS7;2MS8;2VGQ;3J6C;3J6J;3RC5;4P4H;4Z8M;5JEK;
length: 540
go: ENSG00000088888;
snps: rs11905552 rs11908032 rs17857295 rs7262903 rs7269320
name:
Mitochondrial antiviral-signaling protein (MAVS) (CARD adapter inducing interferon beta) (Cardif) (Interferon beta promoter stimulator protein 1) (IPS-1) (Putative NF-kappa-B-activating protein 031N) (Virus-induced-signaling adapter) (VISA)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; peroxisomal membrane [GO:0005778]; CARD domain binding [GO:0050700]; protein kinase binding [GO:0019901]; signaling adaptor activity [GO:0035591]; activation of innate immune response [GO:0002218]; cellular response to exogenous dsRNA [GO:0071360]; defense response to bacterium [GO:0042742]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; negative regulation of type I interferon production [GO:0032480]; negative regulation of viral genome replication [GO:0045071]; positive regulation of chemokine (C-C motif) ligand 5 production [GO:0071651]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interferon-beta secretion [GO:0035549]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of IP-10 production [GO:0071660]; positive regulation of myeloid dendritic cell cytokine production [GO:0002735]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of response to cytokine stimulus [GO:0060760]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tumor necrosis factor secretion [GO:1904469]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; regulation of peroxisome organization [GO:1900063]; signal transduction [GO:0007165]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q7Z434-1; Sequence=Displayed; Name=2; IsoId=Q7Z434-2; Sequence=VSP_010262, VSP_010263; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z434-3; Sequence=VSP_010261, VSP_010264; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z434-4; Sequence=VSP_045872; Note=No experimental confirmation available.; Name=5; Synonyms=MAVS1b, exon 3 deletion; IsoId=Q7Z434-5; Sequence=VSP_047817, VSP_047818; Note=Selectively activates an IFNbeta but not an IL8 promoter. Interacts with RIP1 and FADD and exhibits anti-viral activity against VSV infection.; Name=6; Synonyms=MAVS1a, exon 2 deletion; IsoId=Q7Z434-6; Sequence=VSP_047816, VSP_010263; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:16125763}. Mitochondrion {ECO:0000269|PubMed:11780052, ECO:0000269|PubMed:17709747}. Peroxisome {ECO:0000269|PubMed:20451243}.


uniprotID: Q9NR56
geneSymbol: MBNL1
pdb: 3D2N;3D2Q;3D2S;5U6H;5U6L;5U9B;
name: Muscleblind-like protein 1 (Triplet-expansion RNA-binding protein)
length: 388
go: ENSG00000152601;
snps: rs185894411
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; regulatory region RNA binding [GO:0001069]; RNA binding [GO:0003723]; embryonic limb morphogenesis [GO:0030326]; in utero embryonic development [GO:0001701]; mRNA processing [GO:0006397]; myoblast differentiation [GO:0045445]; nervous system development [GO:0007399]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=EXP42; IsoId=Q9NR56-1; Sequence=Displayed; Name=2; Synonyms=EXP40; IsoId=Q9NR56-2; Sequence=VSP_006430; Name=3; Synonyms=EXP35; IsoId=Q9NR56-3; Sequence=VSP_006429, VSP_006430; Name=4; Synonyms=EXP36; IsoId=Q9NR56-4; Sequence=VSP_006429, VSP_006430, VSP_043799; Name=5; Synonyms=EXP41; IsoId=Q9NR56-5; Sequence=VSP_006430, VSP_043799; Name=6; Synonyms=EXP41S; IsoId=Q9NR56-6; Sequence=VSP_006430, VSP_043799, VSP_043800; Name=7; IsoId=Q9NR56-7; Sequence=VSP_044903; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11590133, ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:18335541}. Cytoplasmic granule {ECO:0000269|PubMed:18335541}. Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).


uniprotID: Q5VZF2
geneSymbol: MBNL2
pdb: 2E5S;2RPP;
length: 373
go: ENSG00000139793;
name:
Muscleblind-like protein 2 (Muscleblind-like protein 1) (Muscleblind-like protein-like) (Muscleblind-like protein-like 39)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VZF2-1; Sequence=Displayed; Name=2; IsoId=Q5VZF2-2; Sequence=VSP_022887; Name=3; IsoId=Q5VZF2-3; Sequence=VSP_022888; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:16273094}. Note=Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques (PubMed:16273094). Location in the cytoplasm is microtubule-dependent (PubMed:16273094). In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts (PubMed:11929853).


uniprotID: A2RUH7
geneSymbol: MYBPHL
name: Myosin-binding protein H-like
length: 354
go: ENSG00000221986;
snps: rs629001
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A2RUH7-1; Sequence=Displayed; Name=2; IsoId=A2RUH7-2; Sequence=VSP_055601; Note=No experimental confirmation available.; 


uniprotID: Q6ZNC8
geneSymbol: MBOAT1
reactome: R-HSA-1482801;R-HSA-1482839;
length: 495
go: ENSG00000172197;
snps: rs2065649
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Lysophospholipid acyltransferase 1 (LPLAT 1) (EC 2.3.1.-) (1-acylglycerophosphoserine O-acyltransferase) (EC 2.3.1.n6) (Lysophosphatidylserine acyltransferase) (LPSAT) (Lyso-PS acyltransferase) (Membrane-bound O-acyltransferase domain-containing protein 1) (O-acyltransferase domain-containing protein 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid biosynthetic process [GO:0008654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZNC8-1; Sequence=Displayed; Name=2; IsoId=Q6ZNC8-2; Sequence=VSP_036729; Name=3; IsoId=Q6ZNC8-3; Sequence=VSP_036730, VSP_036731; 


uniprotID: Q8WWY6
geneSymbol: MBD3L1
name: Methyl-CpG-binding domain protein 3-like 1 (MBD3-like protein 1)
length: 194
go: ENSG00000170948;
snps: rs2972588
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12504854}. Note=Nuclear, in large foci.
sequence:
MAKSSQRKQRDCVNQCKSKPGLSTSIPLRMSSYTFKRPVTRITPHPGNEVRYHQWEESLEKPQQVCWQRRLQGLQAYSSAGELSSTLDLANTLQKLVPSYTGGSLLEDLASGLEHSCPMPHLACSSDAVEIIPAEGVGISQLLCKQFLVTEEDIRKQEGKVKTVRERLAIALIADGLANEAEKVRDQEGRPEKR


uniprotID: A6NDZ8
geneSymbol: MBD3L4
name: Putative methyl-CpG-binding domain protein 3-like 4 (MBD3-like protein 4)
length: 208
sequence:


uniprotID: A0A1B0GVZ6
geneSymbol: MBD3L2B
name: Methyl-CpG-binding domain protein 3-like 2B
length: 204
go: ENSG00000196589;
sequence:


uniprotID: Q05BQ5
geneSymbol: MBTD1
pdb: 3FEO;4C5I;
name: MBT domain-containing protein 1
length: 628
go: ENSG00000011258;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; methylated histone binding [GO:0035064]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]; embryonic skeletal system development [GO:0048706]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q05BQ5-1; Sequence=Displayed; Name=2; IsoId=Q05BQ5-2; Sequence=VSP_042701, VSP_042702; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=Q05BQ5-3; Sequence=VSP_030115, VSP_030118; 


uniprotID: P41968
geneSymbol: MC3R
reactome: R-HSA-375276;R-HSA-418555;
name: Melanocortin receptor 3 (MC3-R)
length: 323
go: ENSG00000124089;
snps: rs3827103 rs74315393 rs121913556
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; melanocortin receptor activity [GO:0004977]; melanocyte-stimulating hormone receptor activity [GO:0004980]; neuropeptide binding [GO:0042923]; peptide hormone binding [GO:0017046]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; circadian regulation of gene expression [GO:0032922]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; homoiothermy [GO:0042309]; locomotor rhythm [GO:0045475]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; regulation of blood pressure [GO:0008217]; regulation of feeding behavior [GO:0060259]; regulation of heart rate [GO:0002027]; sodium ion homeostasis [GO:0055078]


uniprotID: P33032
geneSymbol: MC5R
reactome: R-HSA-375276;R-HSA-418555;
name: Melanocortin receptor 5 (MC5-R) (MC-2)
length: 325
go: ENSG00000176136;
snps: rs2236700
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; hormone binding [GO:0042562]; melanocortin receptor activity [GO:0004977]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]


uniprotID: O15068
geneSymbol: MCF2L
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Guanine nucleotide exchange factor DBS (DBL's big sister) (MCF2-transforming sequence-like protein)
length: 1137
go: ENSG00000126217;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; extracellular space [GO:0005615]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; phosphatidylinositol binding [GO:0035091]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; positive regulation of apoptotic process [GO:0043065]; positive regulation of Rho protein signal transduction [GO:0035025]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=A number of isoforms are produced. According to EST sequences. Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=O15068-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=2; IsoId=O15068-2; Sequence=VSP_026120, VSP_026128; Name=3; Synonyms=Ost-II {ECO:0000303|PubMed:15157669}; IsoId=O15068-3; Sequence=VSP_026121, VSP_026128; Name=4; IsoId=O15068-4; Sequence=VSP_026122, VSP_026126, VSP_026127; Name=5; Synonyms=Ost-I {ECO:0000303|PubMed:15157669}; IsoId=O15068-5; Sequence=VSP_026119, VSP_026128; Name=6; IsoId=O15068-6; Sequence=VSP_026123; Name=7; IsoId=O15068-9; Sequence=VSP_026123, VSP_039037; Note=No experimental confirmation available.; Name=8; IsoId=O15068-8; Sequence=VSP_026124; Name=9; IsoId=O15068-10; Sequence=VSP_026122, VSP_039037; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:15157669}. Cell membrane {ECO:0000269|PubMed:15157669}; Peripheral membrane protein {ECO:0000269|PubMed:15157669}; Cytoplasmic side {ECO:0000269|PubMed:15157669}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:15157669}. Endomembrane system {ECO:0000269|PubMed:15157669}. Note=Interaction with membranes enriched in phosphoinositides is mediated by the CRAL-TRIO domain. {ECO:0000269|PubMed:15157669}.; SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q64096}. Cell membrane {ECO:0000250|UniProtKB:Q64096}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q64096}; Cytoplasmic side {ECO:0000250|UniProtKB:Q64096}.


uniprotID: Q99705
geneSymbol: MCHR1
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;R-HSA-5620922;
length: 422
go: ENSG00000128285;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Melanin-concentrating hormone receptor 1 (MCH receptor 1) (MCH-R1) (MCHR-1) (G-protein coupled receptor 24) (MCH-1R) (MCH1R) (MCHR) (SLC-1) (Somatostatin receptor-like protein)

sequence:

opentargets:
ciliary membrane [GO:0060170]; integral component of plasma membrane [GO:0005887]; non-motile cilium [GO:0097730]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; hormone binding [GO:0042562]; melanin-concentrating hormone receptor activity [GO:0030273]; neuropeptide binding [GO:0042923]; neuropeptide receptor activity [GO:0008188]; protein C-terminus binding [GO:0008022]; signaling receptor binding [GO:0005102]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cell surface receptor signaling pathway [GO:0007166]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of precursor metabolites and energy [GO:0006091]; neuropeptide signaling pathway [GO:0007218]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

snps:
rs117372135 rs112405400 rs133072 rs11914085 rs750210146 rs550313335 rs45439291 rs539260735 rs149604804 


uniprotID: Q9BTE3
geneSymbol: MCMBP
pdb: 4KG9;
name: Mini-chromosome maintenance complex-binding protein (MCM-BP) (MCM-binding protein)
length: 642
go: ENSG00000197771;
sequence:

opentargets:
cytosol [GO:0005829]; MCM complex [GO:0042555]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chromatin binding [GO:0003682]; cell division [GO:0051301]; DNA-dependent DNA replication [GO:0006261]; sister chromatid cohesion [GO:0007062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BTE3-1; Sequence=Displayed; Name=2; IsoId=Q9BTE3-2; Sequence=VSP_014707; Name=3; IsoId=Q9BTE3-3; Sequence=VSP_040721, VSP_014707; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17296731}. Note=Associates with chromatin. Highly associated with chromatin in G1/S and S phases, reduced binding to chromatin in G2, and further decreased binding in early M phase. It then reassociates with chromatin in late M phase. Dissociates from chromatin later than component of the MCM complex.


uniprotID: Q8NEM0
geneSymbol: MCPH1
reactome: R-HSA-2299718;
pdb: 2WT8;3KTF;3PA6;3SHT;3SHV;3SZM;3T1N;3U3Z;
name: Microcephalin
length: 835
go: ENSG00000147316;
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; bone development [GO:0060348]; cerebral cortex development [GO:0021987]; establishment of mitotic spindle orientation [GO:0000132]; mitotic cell cycle arrest [GO:0071850]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuronal stem cell population maintenance [GO:0097150]; protein localization to centrosome [GO:0071539]; regulation of centrosome cycle [GO:0046605]; regulation of chromosome condensation [GO:0060623]; regulation of inflammatory response [GO:0050727]; regulation of kinase activity [GO:0043549]

snps:
rs199422124 rs2442513 rs2922828 rs34121009 rs35590577 rs2083914 rs930557 rs2515569 rs17076894 rs34418490 rs12674488 rs1057090 rs1057091 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEM0-1; Sequence=Displayed; Name=2; IsoId=Q8NEM0-2; Sequence=VSP_046135, VSP_046136, VSP_046137; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEM0-3; Sequence=VSP_046136, VSP_046137; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16479174}.


uniprotID: P25205
geneSymbol: MCM3
reactome: R-HSA-176187;R-HSA-176974;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69052;
length: 808
go: ENSG00000112118;
snps: rs2307332 rs2307329 rs2307328 rs17240063 rs2230239 rs2230240
location: SUBCELLULAR LOCATION: Nucleus.
name:
DNA replication licensing factor MCM3 (EC 3.6.4.12) (DNA polymerase alpha holoenzyme-associated protein P1) (P1-MCM3) (RLF subunit beta) (p102)

sequence:

opentargets:
alpha DNA polymerase:primase complex [GO:0005658]; centrosome [GO:0005813]; MCM complex [GO:0042555]; membrane [GO:0016020]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25205-1; Sequence=Displayed; Name=2; IsoId=P25205-2; Sequence=VSP_057050; Note=No experimental confirmation available.; 


uniprotID: C9JLW8
geneSymbol: MCRIP1
name: Mapk-regulated corepressor-interacting protein 1 (Granulin-2) (Protein FAM195B)
sequence: MTSSPVSRVVYNGKRTSSPRSPPSSSEIFTPAHEENVRFIYEAWQGVERDLRGQVPGGERGLVEEYVEKVPNPSLKTFKPIDLSDLKRRSTQDAKKS
length: 97
go: ENSG00000225663;
opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; nucleus [GO:0005634]; regulation of epithelial to mesenchymal transition [GO:0010717]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25728771, ECO:0000269|PubMed:26184334}. Cytoplasm, Stress granule {ECO:0000269|PubMed:26184334}.


uniprotID: Q96EZ8
geneSymbol: MCRS1
reactome: R-HSA-3214847;R-HSA-5689603;R-HSA-5696394;
length: 462
go: ENSG00000187778;
snps: rs780785469
name:
Microspherule protein 1 (58 kDa microspherule protein) (Cell cycle-regulated factor p78) (INO80 complex subunit J) (MCRS2)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; histone acetyltransferase complex [GO:0000123]; Ino80 complex [GO:0031011]; MLL1 complex [GO:0071339]; NSL complex [GO:0044545]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; polysome [GO:0005844]; G-quadruplex RNA binding [GO:0002151]; poly(G) binding [GO:0034046]; poly(U) RNA binding [GO:0008266]; telomerase inhibitor activity [GO:0010521]; cellular protein modification process [GO:0006464]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; negative regulation of telomerase activity [GO:0051974]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; positive regulation of protein localization to nucleolus [GO:1904751]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96EZ8-1; Sequence=Displayed; Name=2; Synonyms=MCRS2; IsoId=Q96EZ8-2; Sequence=VSP_016260; Name=3; IsoId=Q96EZ8-3; Sequence=VSP_016259; Note=No experimental confirmation available. May be due to intron retention.; Name=4; IsoId=Q96EZ8-4; Sequence=VSP_054571; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15044100, ECO:0000269|PubMed:16571602, ECO:0000269|PubMed:18922472, ECO:0000269|PubMed:20018852}. Nucleus, nucleolus {ECO:0000269|PubMed:16571602, ECO:0000269|PubMed:9654073}. Cytoplasm {ECO:0000269|PubMed:16571602}. Note=In microspherules in the nucleolus. {ECO:0000269|PubMed:9654073}.


uniprotID: Q6DN12
geneSymbol: MCTP2
pdb: 2EP6;
name: Multiple C2 and transmembrane domain-containing protein 2
length: 878
go: ENSG00000140563;
snps: rs61735139 rs149133063 rs143256791 rs201530723 rs191271656 rs200107854 rs370153540 rs34193492
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-mediated signaling [GO:0019722]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6DN12-1; Sequence=Displayed; Name=2; IsoId=Q6DN12-2; Sequence=VSP_026664; Note=No experimental confirmation available.; Name=3; IsoId=Q6DN12-3; Sequence=VSP_026662; Name=4; IsoId=Q6DN12-4; Sequence=VSP_026662, VSP_026665, VSP_026666; Note=No experimental confirmation available.; Name=5; IsoId=Q6DN12-6; Sequence=VSP_038981, VSP_038982; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P49901
geneSymbol: SMCP
name: Sperm mitochondrial-associated cysteine-rich protein
length: 116
go: ENSG00000163206;
sequence:
MCDQTKHSKCCPAKGNQCCPPQQNQCCQSKGNQCCPPKQNQCCQPKGSQCCPPKHNHCCQPKPPCCIQARCCGLETKPEVSPLNMESEPNSPQTQDKGCQTQQQPHSPQNESRPSK

opentargets:
cytoplasm [GO:0005737]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; flagellated sperm motility [GO:0030317]; penetration of zona pellucida [GO:0007341]

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=Becomes associated with the spermatid mitochondrion capsule at step 16 of spermatogenesis. {ECO:0000250}.


uniprotID: Q13257
geneSymbol: MAD2L1
pdb: 1DUJ;1GO4;1KLQ;1S2H;2QYF;2V64;2VFX;3GMH;5KHU;5LCW;6F0X;
length: 205
go: ENSG00000164109;
reactome:
R-HSA-141405;R-HSA-141430;R-HSA-141444;R-HSA-174184;R-HSA-176409;R-HSA-179409;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;

name:
Mitotic spindle assembly checkpoint protein MAD2A (HsMAD2) (Mitotic arrest deficient 2-like protein 1) (MAD2-like protein 1)

sequence:

opentargets:
chromosome [GO:0005694]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; mitotic spindle [GO:0072686]; nuclear pore nuclear basket [GO:0044615]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; spindle pole [GO:0000922]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; mitotic cell cycle checkpoint [GO:0007093]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of ubiquitin protein ligase activity [GO:1904667]; positive regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090267]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13257-1; Sequence=Displayed; Name=2; IsoId=Q13257-2; Sequence=VSP_047644, VSP_047645; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Note=Recruited by MAD1L1 to unattached kinetochores (Probable). Recruited to the nuclear pore complex by TPR during interphase. Recruited to kinetochores in late prometaphase after BUB1, CENPF, BUB1B and CENPE. Kinetochore association requires the presence of NEK2. Kinetochore association is repressed by UBD. {ECO:0000305}.


uniprotID: Q9P1T7
geneSymbol: MDFIC
name: MyoD family inhibitor domain-containing protein (I-mfa domain-containing protein) (hIC)
length: 246
go: ENSG00000135272;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; cyclin binding [GO:0030332]; Tat protein binding [GO:0030957]; transcription factor binding [GO:0008134]; activation of JUN kinase activity [GO:0007257]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of viral transcription [GO:0050434]; regulation of Wnt signaling pathway [GO:0030111]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=2 {ECO:0000269|PubMed:10671520, ECO:0000269|PubMed:16260749}; Synonyms=p32 {ECO:0000269|PubMed:10671520}; IsoId=Q9P1T7-2; Sequence=Displayed; Note=Major isoform.; Name=1 {ECO:0000269|PubMed:10671520}; Synonyms=p40 {ECO:0000269|PubMed:10671520}; IsoId=Q9P1T7-1; Sequence=VSP_037970; Note=Minor isoform. Initiates from a GTG codon. Contains a Nucleolar localization signal at positions 45-63.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus. Note=Also shows a granular distribution in the cytoplasm.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:10671520, ECO:0000269|PubMed:11139147, ECO:0000269|PubMed:12944466, ECO:0000269|PubMed:16260749}. Note=Weak expression in the nucleus.


uniprotID: Q8TC05
geneSymbol: MDM1
name: Nuclear protein MDM1
length: 714
go: ENSG00000111554;
snps: rs962976 rs17224810 rs2306393 rs2306392
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule [GO:0005874]; nucleus [GO:0005634]; microtubule binding [GO:0008017]; negative regulation of centriole replication [GO:0046600]; photoreceptor cell maintenance [GO:0045494]; retina development in camera-type eye [GO:0060041]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TC05-1; Sequence=Displayed; Name=2; IsoId=Q8TC05-2; Sequence=VSP_027546, VSP_027547; Name=3; IsoId=Q8TC05-3; Sequence=VSP_027544, VSP_027545; Name=4; IsoId=Q8TC05-4; Sequence=VSP_046400, VSP_046401; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26337392}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:26337392}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26337392}. Note=Localizes to the centriole lumen. {ECO:0000269|PubMed:26337392}.


uniprotID: Q00987
geneSymbol: MDM2
length: 491
go: ENSG00000135679;
reactome:
R-HSA-198323;R-HSA-2559580;R-HSA-2559585;R-HSA-3232118;R-HSA-3232142;R-HSA-399719;R-HSA-5674400;R-HSA-5689880;R-HSA-6804756;R-HSA-6804757;R-HSA-6804760;R-HSA-69541;R-HSA-8941858;

pdb:
1RV1;1T4E;1T4F;1YCR;1Z1M;2AXI;2C6A;2C6B;2F1Y;2FOP;2GV2;2HDP;2LZG;2M86;2MPS;2RUH;2VJE;2VJF;3EQS;3G03;3IUX;3IWY;3JZK;3JZR;3JZS;3LBK;3LBL;3LNJ;3LNZ;3MQS;3TJ2;3TPX;3TU1;3V3B;3VBG;3VZV;3W69;4DIJ;4ERE;4ERF;4HBM;4HFZ;4HG7;4JV7;4JV9;4JVE;4JVR;4JWR;4MDN;4MDQ;4OAS;4OBA;4OCC;4ODE;4ODF;4OGN;4OGT;4OGV;4OQ3;4QO4;4QOC;4UD7;4UE1;4UMN;4WT2;4XXB;4ZFI;4ZGK;4ZYC;4ZYF;4ZYI;5AFG;5C5A;5HMH;5HMI;5HMK;5J7F;5J7G;5LAV;5LAW;5LAY;5LAZ;5LN2;5MNJ;5OC8;5SWK;5TRF;5UMM;5VK0;5WTS;5XXK;5Z02;5ZXF;6GGN;

name:
E3 ubiquitin-protein ligase Mdm2 (EC 2.3.2.27) (Double minute 2 protein) (Hdm2) (Oncoprotein Mdm2) (RING-type E3 ubiquitin transferase Mdm2) (p53-binding protein Mdm2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; synapse [GO:0045202]; 5S rRNA binding [GO:0008097]; disordered domain specific binding [GO:0097718]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; ligase activity [GO:0016874]; NEDD8 ligase activity [GO:0061663]; p53 binding [GO:0002039]; peroxisome proliferator activated receptor binding [GO:0042975]; protein domain specific binding [GO:0019904]; protein N-terminus binding [GO:0047485]; receptor serine/threonine kinase binding [GO:0033612]; ribonucleoprotein complex binding [GO:0043021]; scaffold protein binding [GO:0097110]; SUMO transferase activity [GO:0019789]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; amyloid fibril formation [GO:1990000]; atrial septum development [GO:0003283]; atrioventricular valve morphogenesis [GO:0003181]; blood vessel development [GO:0001568]; blood vessel remodeling [GO:0001974]; cardiac septum morphogenesis [GO:0060411]; cellular response to actinomycin D [GO:0072717]; cellular response to alkaloid [GO:0071312]; cellular response to estrogen stimulus [GO:0071391]; cellular response to gamma radiation [GO:0071480]; cellular response to growth factor stimulus [GO:0071363]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hypoxia [GO:0071456]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to UV-C [GO:0071494]; cellular response to vitamin B1 [GO:0071301]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; endocardial cushion morphogenesis [GO:0003203]; establishment of protein localization [GO:0045184]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator [GO:1902254]; negative regulation of neuron projection development [GO:0010977]; negative regulation of protein processing [GO:0010955]; negative regulation of signal transduction by p53 class mediator [GO:1901797]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-lysine modification [GO:0018205]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein autoubiquitination [GO:0051865]; protein destabilization [GO:0031648]; protein deubiquitination [GO:0016579]; protein localization to nucleus [GO:0034504]; protein ubiquitination [GO:0016567]; protein-containing complex assembly [GO:0065003]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of heart rate [GO:0002027]; regulation of protein catabolic process [GO:0042176]; regulation of signal transduction by p53 class mediator [GO:1901796]; response to antibiotic [GO:0046677]; response to cocaine [GO:0042220]; response to ether [GO:0045472]; response to formaldehyde [GO:1904404]; response to iron ion [GO:0010039]; response to magnesium ion [GO:0032026]; response to morphine [GO:0043278]; response to steroid hormone [GO:0048545]; response to water-immersion restraint stress [GO:1990785]; transcription factor catabolic process [GO:0036369]; traversing start control point of mitotic cell cycle [GO:0007089]; ubiquitin-dependent protein catabolic process [GO:0006511]; ventricular septum development [GO:0003281]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=Mdm2; IsoId=Q00987-1; Sequence=Displayed; Name=Mdm2-A; IsoId=Q00987-2; Sequence=VSP_003208; Name=Mdm2-A1; IsoId=Q00987-3; Sequence=VSP_003208, VSP_003214; Name=Mdm2-B; IsoId=Q00987-4; Sequence=VSP_003209; Name=Mdm2-C; IsoId=Q00987-5; Sequence=VSP_003211; Name=Mdm2-D; IsoId=Q00987-6; Sequence=VSP_003210; Name=Mdm2-E; IsoId=Q00987-7; Sequence=VSP_003212, VSP_003213; Name=Mdm2-alpha; IsoId=Q00987-8; Sequence=VSP_003207; Name=Mdm2-F; IsoId=Q00987-9; Sequence=VSP_022578; Note=Does not interact with p53/TP53.; Name=Mdm2-G; IsoId=Q00987-10; Sequence=VSP_022579; Name=11; IsoId=Q00987-11; Sequence=VSP_037997; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Cytoplasm. Nucleus, nucleolus. Note=Expressed predominantly in the nucleoplasm. Interaction with ARF(P14) results in the localization of both proteins to the nucleolus. The nucleolar localization signals in both ARF(P14) and MDM2 may be necessary to allow efficient nucleolar localization of both proteins. Colocalizes with RASSF1 isoform A in the nucleus.


uniprotID: P08183
geneSymbol: ABCB1
reactome: R-HSA-2161517;R-HSA-382556;
pdb: 6C0V;6FN1;6FN4;
length: 1280
go: ENSG00000085563;
name:
Multidrug resistance protein 1 (EC 7.6.2.2) (ATP-binding cassette sub-family B member 1) (P-glycoprotein 1) (CD antigen CD243)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ceramide-translocating ATPase activity [GO:0099038]; phosphatidylcholine-translocating ATPase activity [GO:0090554]; phosphatidylethanolamine-translocating ATPase activity [GO:0090555]; transporter activity [GO:0005215]; xenobiotic transmembrane transporting ATPase activity [GO:0008559]; ceramide translocation [GO:0099040]; G2/M transition of mitotic cell cycle [GO:0000086]; phospholipid translocation [GO:0045332]; positive regulation of anion channel activity [GO:1901529]; regulation of chloride transport [GO:2001225]; regulation of response to osmotic stress [GO:0047484]; response to drug [GO:0042493]; stem cell proliferation [GO:0072089]; transmembrane transport [GO:0055085]

drug:
DB01193;DB00316;DB00945;DB00171;DB08916;DB00518;DB04630;DB11363;DB00802;DB00523;DB00915;DB06403;DB00345;DB01118;DB00321;DB00381;DB00701;DB00276;DB06605;DB01169;DB00637;DB01072;DB00335;DB01076;DB06626;DB00972;DB00207;DB01086;DB01244;DB00443;DB00810;DB08873;DB06616;DB08870;DB01200;DB00921;DB00490;DB06772;DB00201;DB04690;DB08907;DB00796;DB01197;DB00564;DB08889;DB01136;DB00520;DB09063;DB00439;DB00608;DB00477;DB00672;DB01239;DB04540;DB02659;DB01340;DB00501;DB00537;DB00515;DB00215;DB01211;DB00349;DB00845;DB00882;DB01242;DB00575;DB00758;DB00257;DB00363;DB09065;DB05239;DB01394;DB02587;DB00286;DB08865;DB00531;DB00091;DB06695;DB08912;DB09102;DB00970;DB06292;DB01254;DB00694;DB04840;DB01151;DB00967;DB01234;DB00514;DB00829;DB00586;DB00255;DB01396;DB00390;DB00320;DB02901;DB00343;DB00975;DB01248;DB01184;DB00590;DB01142;DB00997;DB00470;DB04855;DB09075;DB04881;DB11574;DB00216;DB00584;DB08899;DB00751;DB01253;DB00696;DB00530;DB00199;DB00783;DB01196;DB04573;DB00655;DB00977;DB00773;DB06414;DB00973;DB01023;DB00813;DB06702;DB00950;DB08874;DB00196;DB00472;DB00875;DB00623;DB00690;DB08906;DB00176;DB05449;DB00317;DB00441;DB01645;DB01016;DB09462;DB04077;DB00027;DB11575;DB00365;DB00502;DB00741;DB01050;DB09054;DB00619;DB00458;DB05039;DB00224;DB00328;DB00762;DB06636;DB01167;DB08820;DB00602;DB01221;DB01587;DB01026;DB00709;DB00555;DB00448;DB01259;DB00480;DB09078;DB01202;DB01137;DB08918;DB00451;DB00281;DB08882;DB00279;DB01583;DB00722;DB08827;DB00836;DB01601;DB00455;DB00678;DB00227;DB00742;DB00934;DB00643;DB00358;DB00351;DB00371;DB00333;DB00563;DB00959;DB00264;DB01388;DB01110;DB00683;DB00834;DB08893;DB00305;DB01204;DB00295;DB00688;DB01203;DB01183;DB00704;DB03467;DB01149;DB00220;DB01400;DB00622;DB01115;DB04868;DB09079;DB00401;DB01595;DB01054;DB00585;DB00717;DB00334;DB09296;DB00338;DB09330;DB04417;DB01229;DB03796;DB06603;DB00213;DB00715;DB06589;DB00790;DB01174;DB00252;DB01100;DB08860;DB02261;DB08910;DB08901;DB01263;DB00175;DB00457;DB00860;DB00635;DB01032;DB00396;DB01069;DB01182;DB00571;DB00344;DB04216;DB01224;DB01103;DB00908;DB00468;DB00863;DB00234;DB08896;DB00206;DB01045;DB08864;DB00734;DB00503;DB06228;DB09291;DB06176;DB00778;DB00936;DB01232;DB00747;DB01037;DB11362;DB01104;DB06207;DB06290;DB00641;DB00877;DB01261;DB08934;DB00398;DB01208;DB03203;DB00421;DB01323;DB02010;DB00428;DB01138;DB00669;DB01268;DB00382;DB00864;DB00675;DB04348;DB09161;DB05521;DB00966;DB06287;DB01162;DB00342;DB04905;DB00624;DB08816;DB00373;DB06212;DB01030;DB00539;DB05773;DB00656;DB00831;DB00508;DB00440;DB00726;DB01361;DB08867;DB09076;DB01339;DB11581;DB00285;DB00661;DB00570;DB00541;DB00361;DB08828;DB04877;DB00495;DB04832;

snps:
rs28381804 rs9282564 rs1202183 rs9282565 rs1128501 rs36008564 rs2229109 rs28381902 rs28381914 rs2235036 rs35023033 rs2235039 rs2032581 rs28381967 rs2032582 rs2032582 rs926081975 rs72552784 rs28401798 rs55852620 rs2229107 rs28364274 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08183-1; Sequence=Displayed; Name=2; IsoId=P08183-2; Sequence=VSP_055769; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.


uniprotID: Q8NDY4
geneSymbol: MDS2
name: Myelodysplastic syndrome 2 translocation-associated protein
length: 140
opentargets: extracellular space [GO:0005615]
sequence:
MLQAADFIERTETAGELSRGLIGVLSSQISWCLLNVNLSKLPTRLQRLSCSVLNSSPAMRGGARGRPQLTLERPLRPGCRLHSCSEAEKGGFVRRKEIILFPPCEDPARGWLSANPGREPSPGICWHLNLGLPSLHNCEE


uniprotID: O60682
geneSymbol: MSC
name: Musculin (Activated B-cell factor 1) (ABF-1) (Class A basic helix-loop-helix protein 22) (bHLHa22)
length: 206
go: ENSG00000178860;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; 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 distal enhancer sequence-specific DNA binding [GO:0000980]; transcription corepressor activity [GO:0003714]; branchiomeric skeletal muscle development [GO:0014707]; cellular response to leukemia inhibitory factor [GO:1990830]; diaphragm development [GO:0060539]; roof of mouth development [GO:0060021]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q8N9H8
geneSymbol: EXD3
name: Exonuclease mut-7 homolog (EC 3.1.-.-) (Exonuclease 3'-5' domain-containing protein 3)
length: 876
go: ENSG00000187609;
snps: rs13291830 rs7389423
sequence:

opentargets:
3'-5' exonuclease activity [GO:0008408]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N9H8-1; Sequence=Displayed; Name=2; IsoId=Q8N9H8-2; Sequence=VSP_031345, VSP_031348; Note=No experimental confirmation available.; Name=3; IsoId=Q8N9H8-3; Sequence=VSP_031344, VSP_031349, VSP_031350; Note=No experimental confirmation available.; Name=4; IsoId=Q8N9H8-4; Sequence=VSP_031346, VSP_031347; Name=5; IsoId=Q8N9H8-5; Sequence=VSP_059361, VSP_059362; 


uniprotID: Q9BV79
geneSymbol: MECR
reactome: R-HSA-77346;
pdb: 1ZSY;2VCY;
length: 373
go: ENSG00000116353;
snps: rs1128400 rs11544658 rs762913101 rs34835902 rs145192716 rs759218713
name:
Enoyl-[acyl-carrier-protein] reductase, mitochondrial (EC 1.3.1.104) (2-enoyl thioester reductase) (Nuclear receptor-binding factor 1) (HsNrbf-1) (NRBF-1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; trans-2-enoyl-CoA reductase (NADPH) activity [GO:0019166]; fatty acid beta-oxidation [GO:0006635]; fatty acid biosynthetic process [GO:0006633]; fatty acid metabolic process [GO:0006631]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV79-1; Sequence=Displayed; Name=2; Synonyms=cMECR; IsoId=Q9BV79-2; Sequence=VSP_041131; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000269|PubMed:12654921}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:25031892}. Nucleus {ECO:0000269|PubMed:25031892}.


uniprotID: Q9P086
geneSymbol: MED11
reactome: R-HSA-1989781;R-HSA-381340;
name: Mediator of RNA polymerase II transcription subunit 11 (Mediator complex subunit 11)
length: 117
go: ENSG00000161920;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MATYSLANERLRALEDIEREIGAILQNAGTVILELSKEKTNERLLDRQAAAFTASVQHVEAELSAQIRYLTQVATGQPHEGSSYSSRKDCQMALKRVDYARLKLSDVARTCEQMLEN

opentargets:
mediator complex [GO:0016592]; ubiquitin ligase complex [GO:0000151]; transcription coregulator activity [GO:0003712]; ubiquitin protein ligase activity [GO:0061630]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q93074
geneSymbol: MED12
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 2177
go: ENSG00000184634;
snps: rs80338758 rs80338759 rs387907360 rs387907361 rs1139013 rs387907362 rs879255528
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 12 (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (Mediator complex subunit 12) (OPA-containing protein) (Thyroid hormone receptor-associated protein complex 230 kDa component) (Trap230) (Trinucleotide repeat-containing gene 11 protein)

sequence:

opentargets:
mediator complex [GO:0016592]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; nuclear receptor transcription coactivator activity [GO:0030374]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; ubiquitin protein ligase activity [GO:0061630]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; axis elongation involved in somitogenesis [GO:0090245]; canonical Wnt signaling pathway [GO:0060070]; embryonic brain development [GO:1990403]; embryonic neurocranium morphogenesis [GO:0048702]; endoderm development [GO:0007492]; heart development [GO:0007507]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; negative regulation of Wnt signaling pathway [GO:0030178]; neural tube closure [GO:0001843]; oligodendrocyte development [GO:0014003]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-anal tail morphogenesis [GO:0036342]; regulation of transcription by RNA polymerase II [GO:0006357]; Schwann cell development [GO:0014044]; spinal cord development [GO:0021510]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q93074-1; Sequence=Displayed; Name=2; IsoId=Q93074-2; Sequence=VSP_035520; Name=3; IsoId=Q93074-3; Sequence=VSP_035521; Note=No experimental confirmation available.; 


uniprotID: Q9BUE0
geneSymbol: MED18
reactome: R-HSA-1989781;R-HSA-381340;
name: Mediator of RNA polymerase II transcription subunit 18 (Mediator complex subunit 18) (p28b)
length: 208
go: ENSG00000130772;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; transcription coregulator activity [GO:0003712]; regulation of transcription by RNA polymerase II [GO:0006357]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: Q15648
geneSymbol: MED1
length: 1581
go: ENSG00000125686;
snps: rs1139825 rs35668211
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-212436;R-HSA-2151201;R-HSA-2426168;R-HSA-381340;R-HSA-383280;R-HSA-400206;R-HSA-400253;R-HSA-9018519;

pdb:
1RJK;1RK3;1RKG;1RKH;2O4J;2O4R;2ZFX;3A2H;3AUN;3VJS;3VJT;3VRT;3VRU;3VRV;3VRW;3W0G;3W0H;3W0I;3W0J;3W5P;3W5Q;3W5R;3W5T;3WT5;3WT6;3WT7;3WTQ;4YNK;5AWJ;5AWK;5B41;5B5B;5GIC;5GID;5GIE;5XPM;5XPO;5XPP;5XUQ;5XZF;5XZH;

name:
Mediator of RNA polymerase II transcription subunit 1 (Activator-recruited cofactor 205 kDa component) (ARC205) (Mediator complex subunit 1) (Peroxisome proliferator-activated receptor-binding protein) (PBP) (PPAR-binding protein) (Thyroid hormone receptor-associated protein complex 220 kDa component) (Trap220) (Thyroid receptor-interacting protein 2) (TR-interacting protein 2) (TRIP-2) (Vitamin D receptor-interacting protein complex component DRIP205) (p53 regulatory protein RB18A)

sequence:

opentargets:
chromatin [GO:0000785]; mediator complex [GO:0016592]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; ubiquitin ligase complex [GO:0000151]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; core promoter binding [GO:0001047]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; estrogen receptor binding [GO:0030331]; LBD domain binding [GO:0050693]; mediator complex binding [GO:0036033]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; peroxisome proliferator activated receptor binding [GO:0042975]; retinoic acid receptor binding [GO:0042974]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; thyroid hormone receptor coactivator activity [GO:0030375]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; ubiquitin protein ligase activity [GO:0061630]; vitamin D receptor binding [GO:0042809]; androgen biosynthetic process [GO:0006702]; androgen receptor signaling pathway [GO:0030521]; angiogenesis [GO:0001525]; animal organ regeneration [GO:0031100]; brain development [GO:0007420]; cell morphogenesis [GO:0000902]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to steroid hormone stimulus [GO:0071383]; cellular response to thyroid hormone stimulus [GO:0097067]; embryonic heart tube development [GO:0035050]; embryonic hemopoiesis [GO:0035162]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic placenta development [GO:0001892]; enucleate erythrocyte development [GO:0048822]; epithelial cell proliferation involved in mammary gland duct elongation [GO:0060750]; ERK1 and ERK2 cascade [GO:0070371]; erythrocyte development [GO:0048821]; fat cell differentiation [GO:0045444]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; keratinocyte differentiation [GO:0030216]; lactation [GO:0007595]; lens development in camera-type eye [GO:0002088]; liver development [GO:0001889]; mammary gland branching involved in pregnancy [GO:0060745]; mammary gland branching involved in thelarche [GO:0060744]; megakaryocyte development [GO:0035855]; monocyte differentiation [GO:0030224]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of apoptotic process [GO:0043066]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peroxisome proliferator activated receptor signaling pathway [GO:0035357]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of G0 to G1 transition [GO:0070318]; positive regulation of gene expression [GO:0010628]; positive regulation of hepatocyte proliferation [GO:2000347]; positive regulation of interferon-gamma-mediated signaling pathway [GO:0060335]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of signaling receptor activity [GO:2000273]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell cycle [GO:0051726]; regulation of lipid metabolic process [GO:0019216]; regulation of RNA biosynthetic process [GO:2001141]; regulation of transcription by RNA polymerase I [GO:0006356]; regulation of vitamin D receptor signaling pathway [GO:0070562]; retinal pigment epithelium development [GO:0003406]; thyroid hormone generation [GO:0006590]; thyroid hormone mediated signaling pathway [GO:0002154]; transcription initiation from RNA polymerase II promoter [GO:0006367]; ventricular trabecula myocardium morphogenesis [GO:0003222]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15648-1; Sequence=Displayed; Name=2; IsoId=Q15648-3; Sequence=VSP_027906, VSP_027907; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15471764, ECO:0000269|PubMed:16314496, ECO:0000269|PubMed:16574658}. Note=A subset of the protein may enter the nucleolus subsequent to phosphorylation by MAPK1 or MAPK3.


uniprotID: Q9H944
geneSymbol: MED20
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 212
go: ENSG00000124641;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 20 (Mediator complex subunit 20) (TRF-proximal protein homolog) (hTRFP)

sequence:

opentargets:
mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; ubiquitin ligase complex [GO:0000151]; DNA-directed 5'-3' RNA polymerase activity [GO:0003899]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase activity [GO:0061630]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H944-1; Sequence=Displayed; Name=2; IsoId=Q9H944-2; Sequence=VSP_057052; Note=No experimental confirmation available.; 


uniprotID: O95402
geneSymbol: MED26
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
pdb: 5ODD;
length: 600
go: ENSG00000105085;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 26 (Activator-recruited cofactor 70 kDa component) (ARC70) (Cofactor required for Sp1 transcriptional activation subunit 7) (CRSP complex subunit 7) (Mediator complex subunit 26) (Transcriptional coactivator CRSP70)

sequence:

opentargets:
core mediator complex [GO:0070847]; mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; positive regulation of gene expression [GO:0010628]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95402-1; Sequence=Displayed; Name=2; IsoId=O95402-2; Sequence=VSP_028151, VSP_028152; Note=No experimental confirmation available.; 


uniprotID: Q96HR3
geneSymbol: MED30
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 178
go: ENSG00000164758;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 30 (Mediator complex subunit 30) (TRAP/Mediator complex component TRAP25) (Thyroid hormone receptor-associated protein 6) (Thyroid hormone receptor-associated protein complex 25 kDa component) (Trap25)

sequence:
MSTPPLAASGMAPGPFAGPQAQQAAREVNTASLCRIGQETVQDIVYRTMEIFQLLRNMQLPNGVTYHTGTYQDRLTKLQDNLRQLSVLFRKLRLVYDKCNENCGGMDPIPVEQLIPYVEEDGSKNDDRAGPPRFASEERREIAEVNKKLKQKNQQLKQIMDQLRNLIWDINAMLAMRN

opentargets:
mediator complex [GO:0016592]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor activity [GO:0038023]; thyroid hormone receptor binding [GO:0046966]; transcription coregulator activity [GO:0003712]; ubiquitin protein ligase activity [GO:0061630]; vitamin D receptor binding [GO:0042809]; androgen receptor signaling pathway [GO:0030521]; intracellular steroid hormone receptor signaling pathway [GO:0030518]; positive regulation of transcription, DNA-templated [GO:0045893]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HR3-1; Sequence=Displayed; Name=2; IsoId=Q96HR3-2; Sequence=VSP_053904; 


uniprotID: P40306
geneSymbol: PSMB10
pdb: 6AVO;
length: 273
go: ENSG00000205220;
drug: DB08889;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00809}. Nucleus {ECO:0000250}.
name:
Proteasome subunit beta type-10 (EC 3.4.25.1) (Low molecular mass protein 10) (Macropain subunit MECl-1) (Multicatalytic endopeptidase complex subunit MECl-1) (Proteasome MECl-1) (Proteasome subunit beta-2i)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; spermatoproteasome complex [GO:1990111]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; cell morphogenesis [GO:0000902]; humoral immune response [GO:0006959]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; T cell proliferation [GO:0042098]; viral process [GO:0016032]


uniprotID: A5LHX3
geneSymbol: PSMB11
name: Proteasome subunit beta type-11 (EC 3.4.25.1) (Proteasome subunit beta-5t)
length: 300
go: ENSG00000222028;
snps: rs34457782
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00809}. Nucleus {ECO:0000250}.
reactome:
R-HSA-1169091;R-HSA-1234176;R-HSA-1236974;R-HSA-1236978;R-HSA-174113;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-180534;R-HSA-180585;R-HSA-195253;R-HSA-202424;R-HSA-211733;R-HSA-2467813;R-HSA-2871837;R-HSA-349425;R-HSA-350562;R-HSA-382556;R-HSA-450408;R-HSA-4608870;R-HSA-4641257;R-HSA-4641258;R-HSA-5358346;R-HSA-5362768;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5632684;R-HSA-5658442;R-HSA-5668541;R-HSA-5676590;R-HSA-5678895;R-HSA-5687128;R-HSA-5689603;R-HSA-5689880;R-HSA-68827;R-HSA-68949;R-HSA-69017;R-HSA-69229;R-HSA-69481;R-HSA-69601;R-HSA-8852276;R-HSA-8854050;R-HSA-8939236;R-HSA-8939902;R-HSA-8948751;R-HSA-8951664;R-HSA-9010553;R-HSA-9020702;R-HSA-983168;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; endopeptidase activity [GO:0004175]; peptidase activity [GO:0008233]; threonine-type endopeptidase activity [GO:0004298]; CD8-positive, alpha-beta T cell differentiation [GO:0043374]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; proteolysis [GO:0006508]


uniprotID: P49768
geneSymbol: PSEN1
pdb: 2KR6;4UIS;5A63;5FN2;5FN3;5FN4;5FN5;
length: 467
go: ENSG00000080815;
reactome:
R-HSA-1251985;R-HSA-1474228;R-HSA-193692;R-HSA-205043;R-HSA-2122948;R-HSA-2644606;R-HSA-2894862;R-HSA-2979096;R-HSA-3928665;R-HSA-6798695;R-HSA-9013507;R-HSA-9013700;R-HSA-9017802;

name:
Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]

sequence:

opentargets:
aggresome [GO:0016235]; azurophil granule membrane [GO:0035577]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cell surface [GO:0009986]; centrosome [GO:0005813]; ciliary rootlet [GO:0035253]; dendritic shaft [GO:0043198]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; gamma-secretase complex [GO:0070765]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; kinetochore [GO:0000776]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; neuromuscular junction [GO:0031594]; neuronal cell body [GO:0043025]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; rough endoplasmic reticulum [GO:0005791]; smooth endoplasmic reticulum [GO:0005790]; aspartic endopeptidase activity, intramembrane cleaving [GO:0042500]; aspartic-type endopeptidase activity [GO:0004190]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; calcium channel activity [GO:0005262]; endopeptidase activity [GO:0004175]; PDZ domain binding [GO:0030165]; activation of MAPKK activity [GO:0000186]; amyloid precursor protein catabolic process [GO:0042987]; amyloid precursor protein metabolic process [GO:0042982]; amyloid-beta formation [GO:0034205]; astrocyte activation [GO:0048143]; astrocyte activation involved in immune response [GO:0002265]; autophagosome assembly [GO:0000045]; blood vessel development [GO:0001568]; brain morphogenesis [GO:0048854]; Cajal-Retzius cell differentiation [GO:0021870]; cell fate specification [GO:0001708]; cell-cell adhesion [GO:0098609]; cellular response to amyloid-beta [GO:1904646]; cellular response to DNA damage stimulus [GO:0006974]; cerebral cortex cell migration [GO:0021795]; choline transport [GO:0015871]; dorsal/ventral neural tube patterning [GO:0021904]; embryonic limb morphogenesis [GO:0030326]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; epithelial cell proliferation [GO:0050673]; heart looping [GO:0001947]; hematopoietic progenitor cell differentiation [GO:0002244]; intracellular signal transduction [GO:0035556]; learning or memory [GO:0007611]; membrane protein ectodomain proteolysis [GO:0006509]; memory [GO:0007613]; mitochondrial transport [GO:0006839]; modulation of age-related behavioral decline [GO:0090647]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of axonogenesis [GO:0050771]; negative regulation of core promoter binding [GO:1904797]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; neural retina development [GO:0003407]; neuron apoptotic process [GO:0051402]; neuron development [GO:0048666]; neuron migration [GO:0001764]; neuron projection maintenance [GO:1990535]; neutrophil degranulation [GO:0043312]; Notch receptor processing [GO:0007220]; Notch receptor processing, ligand-dependent [GO:0035333]; positive regulation of amyloid fibril formation [GO:1905908]; positive regulation of apoptotic process [GO:0043065]; positive regulation of catalytic activity [GO:0043085]; positive regulation of coagulation [GO:0050820]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of L-glutamate import across plasma membrane [GO:0002038]; positive regulation of phosphorylation [GO:0042327]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein binding [GO:0032092]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of receptor recycling [GO:0001921]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; protein glycosylation [GO:0006486]; protein processing [GO:0016485]; protein transport [GO:0015031]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of phosphorylation [GO:0042325]; regulation of resting membrane potential [GO:0060075]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic transmission, glutamatergic [GO:0051966]; response to oxidative stress [GO:0006979]; skeletal system morphogenesis [GO:0048705]; skin morphogenesis [GO:0043589]; smooth endoplasmic reticulum calcium ion homeostasis [GO:0051563]; somitogenesis [GO:0001756]; synapse organization [GO:0050808]; synaptic vesicle targeting [GO:0016080]; T cell activation involved in immune response [GO:0002286]; T cell receptor signaling pathway [GO:0050852]; thymus development [GO:0048538]

snps:
rs63750592 rs63749824 rs63749967 rs63751141 rs63750601 rs63750321 rs63751399 rs63750450 rs63749805 rs63751272 rs63750800 rs63750353 rs63750522 rs63751106 rs63751037 rs63750322 rs63750004 rs63750391 rs63750306 rs63750306 rs63750907 rs63750590 rs63749885 rs63751484 rs63750265 rs63751210 rs63750418 rs63750963 rs63750299 rs63751144 rs63749911 rs63749806 rs63750155 rs1042864 rs63750082 rs63750569 rs63749880 rs63750053 rs63750861 rs63751309 rs63751003 rs63750761 rs63750009 rs63749836 rs63750799 rs63751287 rs63751024 rs63749835 rs63750526 rs63751163 rs63751420 rs63750964 rs63750248 rs63750543 rs63750301 rs121917807 rs63751229 rs63751019 rs63750900 rs63750886 rs63750284 rs63749891 rs63750231 rs63750231 rs63750050 rs63751139 rs63751235 rs17125721 rs121917809 rs63751164 rs63751174 rs63750941 rs63750646 rs63750883 rs63751416 rs63750929 rs63751254 rs906454643 rs63750227 rs661 rs63751316 rs63751223 rs63750083 rs63750001 rs121917808 rs63749925 rs63750249 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=I-467; IsoId=P49768-1; Sequence=Displayed; Name=2; Synonyms=I-463; IsoId=P49768-2; Sequence=VSP_005191; Name=3; Synonyms=I-374; IsoId=P49768-3; Sequence=VSP_005191, VSP_005192; 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; Synonyms=Minilin; IsoId=P49768-4; Sequence=VSP_007986, VSP_007987; Name=5; IsoId=P49768-5; Sequence=VSP_005192; Name=6; IsoId=P49768-6; Sequence=VSP_012288; Name=7; IsoId=P49768-7; Sequence=VSP_041440; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:8574969, ECO:0000269|PubMed:9738936, ECO:0000305|PubMed:10037471, ECO:0000305|PubMed:15274632}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Golgi apparatus membrane {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:8574969, ECO:0000305|PubMed:10037471, ECO:0000305|PubMed:15274632}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Cytoplasmic granule {ECO:0000269|PubMed:11987239}. Cell membrane {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:11953314, ECO:0000269|PubMed:11987239, ECO:0000269|PubMed:21143716}. Note=Translocates with bound NOTCH1 from the endoplasmic reticulum and/or Golgi to the cell surface (PubMed:10593990). Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane (PubMed:9738936). Also present in azurophil granules of neutrophils (PubMed:11987239). Colocalizes with UBQLN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed:21143716). {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:11987239, ECO:0000269|PubMed:21143716, ECO:0000269|PubMed:9738936}.


uniprotID: O95456
geneSymbol: PSMG1
length: 288
go: ENSG00000183527;
snps: rs8131611
location: SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum.
name:
Proteasome assembly chaperone 1 (PAC-1) (Chromosome 21 leucine-rich protein) (C21-LRP) (Down syndrome critical region protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome binding [GO:0070628]; cerebellar granule cell precursor proliferation [GO:0021930]; proteasome assembly [GO:0043248]; proteasome core complex assembly [GO:0080129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95456-1; Sequence=Displayed; Name=2; IsoId=O95456-2; Sequence=VSP_017261; 


uniprotID: Q9BT73
geneSymbol: PSMG3
pdb: 2Z5E;
name: Proteasome assembly chaperone 3 (PAC-3) (hPAC3)
length: 122
go: ENSG00000157778;
sequence:
MEDTPLVISKQKTEVVCGVPTQVVCTAFSSHILVVVTQFGKMGTLVSLEPSSVASDVSKPVLTTKVLLGQDEPLIHVFAKNLVAFVSQEAGNRAVLLAVAVKDKSMEGLKALREVIRVCQVW


uniprotID: Q8IV42
geneSymbol: PSTK
reactome: R-HSA-2408557;
name: L-seryl-tRNA(Sec) kinase (EC 2.7.1.164) (O-phosphoseryl-tRNA(Sec) kinase)
length: 348
go: ENSG00000179988;
snps: rs3736582
sequence:

opentargets:
ATP binding [GO:0005524]; kinase activity [GO:0016301]; tRNA binding [GO:0000049]; selenocysteine incorporation [GO:0001514]; selenocysteinyl-tRNA(Sec) biosynthetic process [GO:0097056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV42-1; Sequence=Displayed; Name=2; IsoId=Q8IV42-2; Sequence=VSP_014989; 


uniprotID: P26599
geneSymbol: PTBP1
reactome: R-HSA-6803529;R-HSA-72163;R-HSA-72203;
pdb: 1QM9;1SJQ;1SJR;2AD9;2ADB;2ADC;2EVZ;2N3O;3ZZY;3ZZZ;
length: 531
go: ENSG00000011304;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Polypyrimidine tract-binding protein 1 (PTB) (57 kDa RNA-binding protein PPTB-1) (Heterogeneous nuclear ribonucleoprotein I) (hnRNP I)

sequence:

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; poly-pyrimidine tract binding [GO:0008187]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; fibroblast growth factor receptor signaling pathway [GO:0008543]; IRES-dependent viral translational initiation [GO:0075522]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; negative regulation of muscle cell differentiation [GO:0051148]; negative regulation of RNA splicing [GO:0033119]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of protein dephosphorylation [GO:0035307]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA metabolic process [GO:0016070]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P26599-1; Sequence=Displayed; Name=2; Synonyms=PTB2; IsoId=P26599-2; Sequence=VSP_005802; Name=3; IsoId=P26599-3; Sequence=VSP_043649; 


uniprotID: Q9Y6C5
geneSymbol: PTCH2
reactome: R-HSA-373080;
name: Protein patched homolog 2 (PTC2)
length: 1203
go: ENSG00000117425;
snps: rs11573578 rs11573581 rs11573586 rs11573590 rs11573591 rs11573591 rs11573598
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; hedgehog family protein binding [GO:0097108]; hedgehog receptor activity [GO:0008158]; smoothened binding [GO:0005119]; cell fate determination [GO:0001709]; epidermal cell fate specification [GO:0009957]; hair cycle [GO:0042633]; negative regulation of smoothened signaling pathway [GO:0045879]; positive regulation of epidermal cell differentiation [GO:0045606]; skin development [GO:0043588]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6C5-1; Sequence=Displayed; Name=2; IsoId=Q9Y6C5-2; Sequence=VSP_004542; 


uniprotID: Q6ZW05
geneSymbol: PTCHD4
name: Patched domain-containing protein 4 (p53-regulated patched protein)
length: 846
go: ENSG00000244694;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZW05-1; Sequence=Displayed; Name=2; IsoId=Q6ZW05-2; Sequence=VSP_056623, VSP_056624, VSP_056625; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZW05-3; Sequence=VSP_058428; Name=4; IsoId=Q6ZW05-4; Sequence=VSP_058427; Note=No experimental confirmation available.; 


uniprotID: Q8WV60
geneSymbol: PTCD2
name: Pentatricopeptide repeat-containing protein 2, mitochondrial
length: 388
go: ENSG00000049883;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18729827}.
sequence:

opentargets:
mitochondrion [GO:0005739]; RNA binding [GO:0003723]; kidney development [GO:0001822]; liver development [GO:0001889]; mitochondrion organization [GO:0007005]; mRNA processing [GO:0006397]; muscle fiber development [GO:0048747]; regulation of mRNA processing [GO:0050684]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WV60-1; Sequence=Displayed; Name=2; IsoId=Q8WV60-2; Sequence=VSP_055257, VSP_055258; Note=No experimental confirmation available.; Name=3; IsoId=Q8WV60-3; Sequence=VSP_055680; Note=No experimental confirmation available.; 


uniprotID: Q86Y79
geneSymbol: PTRH1
name: Probable peptidyl-tRNA hydrolase (PTH) (EC 3.1.1.29)
length: 214
go: ENSG00000187024;
opentargets: aminoacyl-tRNA hydrolase activity [GO:0004045]; RNA binding [GO:0003723]
sequence:


uniprotID: P20264
geneSymbol: POU3F3
length: 500
go: ENSG00000198914;
location: SUBCELLULAR LOCATION: Nucleus.
name:
POU domain, class 3, transcription factor 3 (Brain-specific homeobox/POU domain protein 1) (Brain-1) (Brn-1) (Octamer-binding protein 8) (Oct-8) (Octamer-binding transcription factor 8) (OTF-8)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; sequence-specific DNA binding [GO:0043565]; central nervous system development [GO:0007417]; cerebral cortex radially oriented cell migration [GO:0021799]; chemical homeostasis [GO:0048878]; excretion [GO:0007588]; forebrain ventricular zone progenitor cell division [GO:0021869]; metanephric ascending thin limb development [GO:0072218]; metanephric DCT cell differentiation [GO:0072240]; metanephric loop of Henle development [GO:0072236]; metanephric macula densa development [GO:0072227]; metanephric thick ascending limb development [GO:0072233]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]


uniprotID: Q12837
geneSymbol: POU4F2
reactome: R-HSA-6804759;
length: 409
go: ENSG00000151615;
snps: rs13152799
name:
POU domain, class 4, transcription factor 2 (Brain-specific homeobox/POU domain protein 3B) (Brain-3B) (Brn-3B)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear euchromatin [GO:0005719]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; promoter-specific chromatin binding [GO:1990841]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; axon extension [GO:0048675]; axon guidance [GO:0007411]; cellular response to cytokine stimulus [GO:0071345]; cellular response to estradiol stimulus [GO:0071392]; cellular response to oxygen levels [GO:0071453]; dorsal root ganglion development [GO:1990791]; heart development [GO:0007507]; intracellular estrogen receptor signaling pathway [GO:0030520]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; MAPK cascade [GO:0000165]; negative regulation of adipose tissue development [GO:1904178]; negative regulation of amacrine cell differentiation [GO:1902870]; negative regulation of cell differentiation [GO:0045596]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuromuscular process controlling balance [GO:0050885]; neuron differentiation [GO:0030182]; positive regulation of axon extension [GO:0045773]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of cell differentiation [GO:0045597]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of programmed cell death [GO:0043068]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of retinal ganglion cell axon guidance [GO:0090259]; regulation of signal transduction by p53 class mediator [GO:1901796]; retina development in camera-type eye [GO:0060041]; retinal ganglion cell axon guidance [GO:0031290]; sensory perception of sound [GO:0007605]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Brn-3b long {ECO:0000303|PubMed:23805044}, Brn-3b-l {ECO:0000303|PubMed:23805044}; IsoId=Q12837-1; Sequence=Displayed; Name=2; Synonyms=Brn-3b short {ECO:0000303|PubMed:23805044}, Brn-3b-s {ECO:0000303|PubMed:23805044}; IsoId=Q12837-2; Sequence=VSP_058837; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7691107}. Nucleus speckle {ECO:0000269|PubMed:19266028}. Cytoplasm {ECO:0000250|UniProtKB:Q63934}.


uniprotID: Q9NXH3
geneSymbol: PPP1R14D
length: 145
go: ENSG00000166143;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Protein phosphatase 1 regulatory subunit 14D (Gastrointestinal and brain-specific PP1-inhibitory protein 1) (GBPI-1)

sequence:
MLSSSPASCTSPSPDGENPCKKVHWASGRRRTSSTDSESKSHPDSSKIPRSRRPSRLTVKYDRGQLQRWLEMEQWVDAQVQELFQDQATPSEPEIDLEALMDLSTEEQKTQLEAILGNCPRPTEAFISELLSQLKKLRRLSRPQK

opentargets:
cytoplasm [GO:0005737]; protein phosphatase inhibitor activity [GO:0004864]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; negative regulation of protein serine/threonine phosphatase activity [GO:1905183]; positive regulation of protein serine/threonine phosphatase activity [GO:1905184]; regulation of phosphorylation [GO:0042325]; regulation of protein dephosphorylation [GO:0035304]


uniprotID: Q9BZL4
geneSymbol: PPP1R12C
length: 782
go: ENSG00000125503;
snps: rs35849605
name:
Protein phosphatase 1 regulatory subunit 12C (Protein phosphatase 1 myosin-binding subunit of 85 kDa) (Protein phosphatase 1 myosin-binding subunit p85)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; enzyme inhibitor activity [GO:0004857]; phosphatase regulator activity [GO:0019208]; protein kinase binding [GO:0019901]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}; IsoId=Q9BZL4-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q9BZL4-2; Sequence=VSP_052643; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q9BZL4-3; Sequence=VSP_030750, VSP_030751; Note=No experimental confirmation available.; Name=4; IsoId=Q9BZL4-4; Sequence=VSP_030751; Note=No experimental confirmation available.; Name=5; IsoId=Q9BZL4-5; Sequence=VSP_057216, VSP_057217, VSP_030751; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:12923170}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:12923170}.


uniprotID: P30405
geneSymbol: PPIF
length: 207
go: ENSG00000108179;
drug: DB02078;DB08168;DB00091;DB00172;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:10406942}.
pdb:
2BIT;2BIU;2Z6W;3QYU;3R49;3R4G;3R54;3R56;3R57;3R59;3RCF;3RCG;3RCI;3RCK;3RCL;3RD9;3RDA;3RDB;3RDC;4J58;4J59;4J5A;4J5B;4J5C;4J5D;4J5E;4O8H;4O8I;4XNC;4ZSC;4ZSD;5A0E;5CBT;5CBU;5CBV;5CBW;5CCN;5CCQ;5CCR;5CCS;5NWO;

name:
Peptidyl-prolyl cis-trans isomerase F, mitochondrial (PPIase F) (EC 5.2.1.8) (Cyclophilin D) (CyP-D) (CypD) (Cyclophilin F) (Mitochondrial cyclophilin) (CyP-M) (Rotamase F)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial permeability transition pore complex [GO:0005757]; mitochondrion [GO:0005739]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; unfolded protein binding [GO:0051082]; apoptotic mitochondrial changes [GO:0008637]; cellular response to arsenic-containing substance [GO:0071243]; cellular response to calcium ion [GO:0071277]; cellular response to hydrogen peroxide [GO:0070301]; mitochondrial outer membrane permeabilization involved in programmed cell death [GO:1902686]; necroptotic process [GO:0070266]; negative regulation of apoptotic process [GO:0043066]; negative regulation of ATPase activity [GO:0032780]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of oxidative phosphorylation [GO:0090324]; negative regulation of oxidative phosphorylation uncoupler activity [GO:2000276]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; regulation of mitochondrial membrane permeability [GO:0046902]; regulation of mitochondrial membrane permeability involved in programmed necrotic cell death [GO:1902445]; regulation of necrotic cell death [GO:0010939]; regulation of proton-transporting ATPase activity, rotational mechanism [GO:0010849]; response to ischemia [GO:0002931]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30405-1; Sequence=Displayed; Name=2; IsoId=P30405-2; Sequence=VSP_056286; 


uniprotID: P23942
geneSymbol: PRPH2
name: Peripherin-2 (Retinal degeneration slow protein) (Tetraspanin-22) (Tspan-22)
length: 346
snps: rs61755770 rs121918567 rs390659 rs425876 rs61748434 rs434102
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; photoreceptor outer segment [GO:0001750]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; retina development in camera-type eye [GO:0060041]; visual perception [GO:0007601]


uniprotID: P07225
geneSymbol: PROS1
reactome: R-HSA-114608;R-HSA-140875;R-HSA-159740;R-HSA-159763;R-HSA-159782;R-HSA-202733;R-HSA-977606;
pdb: 1Z6C;
name: Vitamin K-dependent protein S
length: 676
go: ENSG00000184500;
drug: DB00055;DB00170;DB00464;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; calcium ion binding [GO:0005509]; endopeptidase inhibitor activity [GO:0004866]; blood coagulation [GO:0007596]; ER to Golgi vesicle-mediated transport [GO:0006888]; fibrinolysis [GO:0042730]; leukocyte migration [GO:0050900]; platelet degranulation [GO:0002576]; regulation of complement activation [GO:0030449]

snps:
rs7614835 rs963668412 rs748630360 rs766423432 rs73846070 rs6122 rs557733421 rs765935815 rs200886866 rs144526169 rs142805170 rs778731080 rs749024073 rs146366248 rs751090951 rs144430063 rs779391826 rs121918474 rs41267007 rs387906675 rs1455675811 rs121918473 rs777616039 rs780863931 rs941433523 rs767653920 rs121918472 rs121918472 rs199469500 rs371028997 rs1396452003 rs184798444 rs121918476 rs139479630 rs750531364 rs202190731 rs368173480 rs778685576 rs1220553873 


uniprotID: Q8N8Z3
geneSymbol: PRR26
name: Proline-rich protein 26
length: 221
go: ENSG00000180525;
sequence:


uniprotID: Q6MZQ0
geneSymbol: PRR5L
name: Proline-rich protein 5-like (Protein observed with Rictor-2) (Protor-2)
length: 368
go: ENSG00000135362;
snps: rs330261 rs11033639
sequence:

opentargets:
TORC2 complex [GO:0031932]; ubiquitin protein ligase binding [GO:0031625]; cellular response to oxidative stress [GO:0034599]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of signal transduction [GO:0009968]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of mRNA catabolic process [GO:0061014]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein phosphorylation [GO:0001934]; regulation of fibroblast migration [GO:0010762]; TORC2 signaling [GO:0038203]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6MZQ0-1; Sequence=Displayed; Name=2; IsoId=Q6MZQ0-2; Sequence=VSP_033375, VSP_033379; Note=No experimental confirmation available.; Name=3; IsoId=Q6MZQ0-3; Sequence=VSP_033376, VSP_033377, VSP_033378; Note=No experimental confirmation available.; Name=4; IsoId=Q6MZQ0-4; Sequence=VSP_044981, VSP_044982; Note=No experimental confirmation available.; 


uniprotID: A1L453
geneSymbol: PRSS38
name: Serine protease 38 (EC 3.4.21.-) (Marapsin-2)
length: 326
go: ENSG00000185888;
opentargets: extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]
snps: rs9426581
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: P20618
geneSymbol: PSMB1
length: 241
go: ENSG00000008018;
drug: DB00188;DB08889;
snps: rs12717 rs10541
pdb:
4R3O;4R67;5A0Q;5GJQ;5GJR;5L4G;5L5B;5L5D;5L5E;5L5F;5L5H;5L5I;5L5J;5L5O;5L5P;5L5Q;5L5R;5L5S;5L5T;5L5U;5L5V;5L5W;5L5X;5L5Y;5L5Z;5L60;5L61;5L62;5L63;5L64;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M2B;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;6AVO;

name:
Proteasome subunit beta type-1 (EC 3.4.25.1) (Macropain subunit C5) (Multicatalytic endopeptidase complex subunit C5) (Proteasome component C5) (Proteasome gamma chain)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; secretory granule lumen [GO:0034774]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; viral process [GO:0016032]

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


uniprotID: P49721
geneSymbol: PSMB2
length: 201
go: ENSG00000126067;
drug: DB08889;
pdb:
4R3O;4R67;5A0Q;5GJQ;5GJR;5L4G;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;6AVO;

name:
Proteasome subunit beta type-2 (EC 3.4.25.1) (Macropain subunit C7-I) (Multicatalytic endopeptidase complex subunit C7-I) (Proteasome component C7-I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; response to organic cyclic compound [GO:0014070]; response to organonitrogen compound [GO:0010243]; viral process [GO:0016032]


uniprotID: Q5JS54
geneSymbol: PSMG4
pdb: 5WTQ;
name: Proteasome assembly chaperone 4 (PAC-4) (hPAC4)
length: 123
go: ENSG00000180822;
opentargets: proteasome assembly [GO:0043248]
sequence:
MEGLVVAAGGDVSLHNFSARLWEQLVHFHVMRLTDSLFLWVGATPHLRNLAVAMCSRYDSIPVSTSLLGDTSDTTSTGLAQRLARKTNKQVFVSYNLQNTDSNFALLVENRIKEEMEAFPEKF

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JS54-1; Sequence=Displayed; Name=2; IsoId=Q5JS54-2; Sequence=VSP_046635; Note=No experimental confirmation available.; Name=3; IsoId=Q5JS54-3; Sequence=VSP_046636; Note=No experimental confirmation available.; 


uniprotID: Q06323
geneSymbol: PSME1
pdb: 1AVO;
length: 249
go: ENSG00000092010;
snps: rs1803830 rs14930
name:
Proteasome activator complex subunit 1 (11S regulator complex subunit alpha) (REG-alpha) (Activator of multicatalytic protease subunit 1) (Interferon gamma up-regulated I-5111 protein) (IGUP I-5111) (Proteasome activator 28 subunit alpha) (PA28a) (PA28alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; proteasome activator complex [GO:0008537]; proteasome complex [GO:0000502]; endopeptidase activator activity [GO:0061133]; antigen processing and presentation of exogenous antigen [GO:0019884]; positive regulation of endopeptidase activity [GO:0010950]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of proteasomal protein catabolic process [GO:0061136]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q06323-1; Sequence=Displayed; Name=2; IsoId=Q06323-2; Sequence=VSP_046880; Note=Gene prediction based on EST data.; Name=3; IsoId=Q06323-3; Sequence=VSP_055166, VSP_055167; Note=Gene prediction based on EST data.; 


uniprotID: Q14997
geneSymbol: PSME4
name: Proteasome activator complex subunit 4 (Proteasome activator PA200)
length: 1843
go: ENSG00000068878;
snps: rs2302878 rs805408 rs35903236
reactome:
R-HSA-1169091;R-HSA-1234176;R-HSA-1236974;R-HSA-1236978;R-HSA-174113;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-180534;R-HSA-180585;R-HSA-195253;R-HSA-202424;R-HSA-211733;R-HSA-2467813;R-HSA-2871837;R-HSA-349425;R-HSA-350562;R-HSA-382556;R-HSA-450408;R-HSA-4608870;R-HSA-4641257;R-HSA-4641258;R-HSA-5358346;R-HSA-5362768;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5632684;R-HSA-5658442;R-HSA-5668541;R-HSA-5676590;R-HSA-5678895;R-HSA-5687128;R-HSA-5689603;R-HSA-5689880;R-HSA-68827;R-HSA-68949;R-HSA-69017;R-HSA-69229;R-HSA-69481;R-HSA-69601;R-HSA-8852276;R-HSA-8854050;R-HSA-8939236;R-HSA-8939902;R-HSA-8948751;R-HSA-8951664;R-HSA-9010553;R-HSA-9020702;R-HSA-983168;

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome core complex [GO:0005839]; spermatoproteasome complex [GO:1990111]; lysine-acetylated histone binding [GO:0070577]; peptidase activator activity [GO:0016504]; proteasome binding [GO:0070628]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; multicellular organism development [GO:0007275]; post-translational protein modification [GO:0043687]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; protein deubiquitination [GO:0016579]; spermatogenesis, exchange of chromosomal proteins [GO:0035093]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14997-1; Sequence=Displayed; Name=2; IsoId=Q14997-2; Sequence=VSP_023878; Name=3; IsoId=Q14997-3; Sequence=VSP_023877, VSP_023879; Name=4; IsoId=Q14997-4; Sequence=VSP_023876; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000269|PubMed:12093752}. Nucleus speckle {ECO:0000250}. Note=Found in nuclear foci following treatment with ionizing radiation, but not with ultraviolet irradiation or H(2)O(2).


uniprotID: Q92530
geneSymbol: PSMF1
pdb: 2VT8;4OUH;
name: Proteasome inhibitor PI31 subunit (hPI31)
length: 271
go: ENSG00000125818;
snps: rs1803415 rs2235587
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; proteasome core complex [GO:0005839]; endopeptidase inhibitor activity [GO:0004866]; proteasome binding [GO:0070628]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; negative regulation of proteasomal protein catabolic process [GO:1901799]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18495667}. Endoplasmic reticulum {ECO:0000269|PubMed:18495667}.


uniprotID: Q969U7
geneSymbol: PSMG2
length: 264
go: ENSG00000128789;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9EST4}.
name:
Proteasome assembly chaperone 2 (PAC-2) (Hepatocellular carcinoma-susceptibility protein 3) (Tumor necrosis factor superfamily member 5-induced protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of apoptotic process [GO:0043066]; proteasome assembly [GO:0043248]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969U7-1; Sequence=Displayed; Name=2; IsoId=Q969U7-2; Sequence=VSP_055721; 


uniprotID: Q9HC23
geneSymbol: PROK2
reactome: R-HSA-375276;R-HSA-416476;
name: Prokineticin-2 (PK2) (Protein Bv8 homolog)
length: 129
go: ENSG00000163421;
snps: rs587777863 rs104893767 rs587777864 rs121434272
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRSLCCAPLLLLLLLPPLLLTPRAGDAAVITGACDKDSQCGGGMCCAVSIWVKSIRICTPMGKLGDSCHPLTRKNNFGNGRQERRKRKRSKRKKEVPFFGRRMHHTCPCLPGLACLRTSFNRFICLAQK

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; G protein-coupled receptor binding [GO:0001664]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; cell proliferation [GO:0008283]; chemotaxis [GO:0006935]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; negative regulation of apoptotic process [GO:0043066]; neuropeptide signaling pathway [GO:0007218]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of smooth muscle contraction [GO:0045987]; regulation of angiogenesis [GO:0045765]; sensory perception of pain [GO:0019233]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HC23-1; Sequence=Displayed; Name=2; IsoId=Q9HC23-2; Sequence=VSP_005219; 


uniprotID: O60508
geneSymbol: CDC40
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;
pdb: 5MQF;5XJC;5YZG;5Z56;5Z57;6FF4;
length: 579
go: ENSG00000168438;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9830021}.
name:
Pre-mRNA-processing factor 17 (Cell division cycle 40 homolog) (EH-binding protein 3) (Ehb3) (PRP17 homolog) (hPRP17)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]


uniprotID: P60900
geneSymbol: PSMA6
length: 246
go: ENSG00000100902;
pdb:
4R3O;4R67;5A0Q;5GJQ;5GJR;5L4G;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;6AVO;

name:
Proteasome subunit alpha type-6 (EC 3.4.25.1) (27 kDa prosomal protein) (PROS-27) (p27K) (Macropain iota chain) (Multicatalytic endopeptidase complex iota chain) (Proteasome iota chain)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; myofibril [GO:0030016]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; polysome [GO:0005844]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, alpha-subunit complex [GO:0019773]; sarcomere [GO:0030017]; endopeptidase activity [GO:0004175]; NF-kappaB binding [GO:0051059]; purine ribonucleoside triphosphate binding [GO:0035639]; RNA binding [GO:0003723]; threonine-type endopeptidase activity [GO:0004298]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of inflammatory response [GO:0050727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P60900-1; Sequence=Displayed; Name=2; IsoId=P60900-2; Sequence=VSP_054587; Note=No experimental confirmation available.; Name=3; IsoId=P60900-3; Sequence=VSP_054586; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12181345}. Nucleus {ECO:0000269|PubMed:12181345}. Note=Colocalizes with TRIM5 in cytoplasmic bodies. {ECO:0000250|UniProtKB:Q9QUM9}.


uniprotID: P28062
geneSymbol: PSMB8
pdb: 5L5A;5L5B;5L5D;5L5E;5L5F;5L5H;5L5I;5L5J;5L5O;5L5P;5L5Q;5L5R;5L5S;5L5T;5L5U;5L5V;5LTT;5M2B;6AVO;
length: 276
go: ENSG00000204264;
drug: DB08889;
snps: rs114772012 rs2071543 rs17220206 rs748082671 rs387906680
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00809}. Nucleus {ECO:0000250}.
reactome:
R-HSA-1169091;R-HSA-1234176;R-HSA-1236974;R-HSA-1236978;R-HSA-174084;R-HSA-174113;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-180534;R-HSA-180585;R-HSA-187577;R-HSA-195253;R-HSA-202424;R-HSA-211733;R-HSA-2467813;R-HSA-2871837;R-HSA-349425;R-HSA-350562;R-HSA-382556;R-HSA-450408;R-HSA-4608870;R-HSA-4641257;R-HSA-4641258;R-HSA-5358346;R-HSA-5362768;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5632684;R-HSA-5658442;R-HSA-5668541;R-HSA-5676590;R-HSA-5678895;R-HSA-5687128;R-HSA-5689603;R-HSA-5689880;R-HSA-68827;R-HSA-68949;R-HSA-69017;R-HSA-69229;R-HSA-69481;R-HSA-69601;R-HSA-8852276;R-HSA-8854050;R-HSA-8939236;R-HSA-8939902;R-HSA-8941858;R-HSA-8948751;R-HSA-8951664;R-HSA-9010553;R-HSA-9020702;R-HSA-909733;R-HSA-9604323;R-HSA-983168;

name:
Proteasome subunit beta type-8 (EC 3.4.25.1) (Low molecular mass protein 7) (Macropain subunit C13) (Multicatalytic endopeptidase complex subunit C13) (Proteasome component C13) (Proteasome subunit beta-5i) (Really interesting new gene 10 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; spermatoproteasome complex [GO:1990111]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; antigen processing and presentation [GO:0019882]; fat cell differentiation [GO:0045444]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; regulation of endopeptidase activity [GO:0052548]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=LMP7B, LMP7-E2; IsoId=P28062-1; Sequence=Displayed; Name=2; Synonyms=LMP7A, LMP7-E1; IsoId=P28062-2; Sequence=VSP_005287; 


uniprotID: P28065
geneSymbol: PSMB9
pdb: 6AVO;
length: 219
go: ENSG00000240065;
drug: DB08889;
snps: rs35100697 rs241419 rs17587 rs369359789 rs17213861
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00809}. Nucleus {ECO:0000250}.
name:
Proteasome subunit beta type-9 (EC 3.4.25.1) (Low molecular mass protein 2) (Macropain chain 7) (Multicatalytic endopeptidase complex chain 7) (Proteasome chain 7) (Proteasome subunit beta-1i) (Really interesting new gene 12 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, beta-subunit complex [GO:0019774]; spermatoproteasome complex [GO:1990111]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; immune system process [GO:0002376]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; regulation of cysteine-type endopeptidase activity [GO:2000116]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=LMP2.L; IsoId=P28065-1; Sequence=Displayed; Name=LMP2.S; IsoId=P28065-2; Sequence=VSP_005288; 


uniprotID: P62714
geneSymbol: PPP2CB
name: Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform (PP2A-beta) (EC 3.1.3.16)
length: 309
go: ENSG00000104695;
drug: DB00163;
reactome:
R-HSA-113501;R-HSA-1295596;R-HSA-141444;R-HSA-163685;R-HSA-163767;R-HSA-180024;R-HSA-195253;R-HSA-196299;R-HSA-198753;R-HSA-202670;R-HSA-2465910;R-HSA-2467813;R-HSA-2500257;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6804757;R-HSA-6811558;R-HSA-68877;R-HSA-69231;R-HSA-69273;R-HSA-70171;

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; spindle pole [GO:0000922]; metal ion binding [GO:0046872]; protein C-terminus binding [GO:0008022]; protein serine/threonine phosphatase activity [GO:0004722]; apoptotic mitochondrial changes [GO:0008637]; negative regulation of Ras protein signal transduction [GO:0046580]; peptidyl-serine dephosphorylation [GO:0070262]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of microtubule binding [GO:1904528]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein dephosphorylation [GO:0006470]; regulation of gene expression [GO:0010468]; response to endoplasmic reticulum stress [GO:0034976]; response to hydrogen peroxide [GO:0042542]; response to lead ion [GO:0010288]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16541025}. Nucleus {ECO:0000269|PubMed:16541025}. Chromosome, centromere {ECO:0000269|PubMed:16541025}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16541025}. Note=In prometaphase cells, but not in anaphase cells, localizes at centromeres. During mitosis, also found at spindle poles.


uniprotID: Q9H2H8
geneSymbol: PPIL3
reactome: R-HSA-72163;
pdb: 1XYH;2OJU;2OK3;
length: 161
go: ENSG00000240344;
snps: rs7562391
name:
Peptidyl-prolyl cis-trans isomerase-like 3 (PPIase) (EC 5.2.1.8) (Cyclophilin J) (CyPJ) (Cyclophilin-like protein PPIL3) (Rotamase PPIL3)

sequence:
MSVTLHTDVGDIKIEVFCERTPKTCENFLALCASNYYNGCIFHRNIKGFMVQTGDPTGTGRGGNSIWGKKFEDEYSEYLKHNVRGVVSMANNGPNTNGSQFFITYGKQPHLDMKYTVFGKVIDGLETLDELEKLPVNEKTYRPLNDVHIKDITIHANPFAQ

opentargets:
catalytic step 2 spliceosome [GO:0071013]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; mRNA splicing, via spliceosome [GO:0000398]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PPIL3b; IsoId=Q9H2H8-1; Sequence=Displayed; Name=2; Synonyms=PPIL3a; IsoId=Q9H2H8-2; Sequence=VSP_015468; 


uniprotID: P35813
geneSymbol: PPM1A
reactome: R-HSA-2173795;R-HSA-380972;
pdb: 1A6Q;3FXJ;3FXK;3FXL;3FXM;3FXO;4RA2;4RAF;4RAG;6B67;
length: 382
go: ENSG00000100614;
name:
Protein phosphatase 1A (EC 3.1.3.16) (Protein phosphatase 2C isoform alpha) (PP2C-alpha) (Protein phosphatase IA)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calmodulin-dependent protein phosphatase activity [GO:0033192]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein serine/threonine phosphatase activity [GO:0004722]; R-SMAD binding [GO:0070412]; cell cycle arrest [GO:0007050]; cellular response to transforming growth factor beta stimulus [GO:0071560]; dephosphorylation [GO:0016311]; N-terminal protein myristoylation [GO:0006499]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of SMAD protein complex assembly [GO:0010991]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of transcription, DNA-templated [GO:0045893]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha-1; IsoId=P35813-1; Sequence=Displayed; Name=Alpha-2; IsoId=P35813-2; Sequence=VSP_005085, VSP_005086; Name=3; IsoId=P35813-3; Sequence=VSP_045687; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16751101}. Cytoplasm, cytosol {ECO:0000269|PubMed:22781750}. Membrane {ECO:0000269|PubMed:20213681, ECO:0000269|PubMed:25255805}; Lipid-anchor {ECO:0000269|PubMed:20213681, ECO:0000269|PubMed:25255805}. Note=Weakly associates at the membrane and N-myristoylation mediates the membrane localization. {ECO:0000250|UniProtKB:P49443}.


uniprotID: Q86UA1
geneSymbol: PRPF39
name: Pre-mRNA-processing factor 39 (PRP39 homolog)
length: 669
go: ENSG00000185246;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
commitment complex [GO:0000243]; U1 snRNP [GO:0005685]; U2-type prespliceosome [GO:0071004]; mRNA 5'-splice site recognition [GO:0000395]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UA1-1; Sequence=Displayed; Name=2; IsoId=Q86UA1-2; Sequence=VSP_021496, VSP_021497; Note=No experimental confirmation available.; 


uniprotID: Q8IZ63
geneSymbol: PRR22
name: Proline-rich protein 22
length: 422
go: ENSG00000212123;
snps: rs3745640
sequence:


uniprotID: Q96S07
geneSymbol: PRR25
name: Proline-rich protein 25
length: 402
go: ENSG00000167945;
snps: rs1005190 rs13337837
sequence:


uniprotID: Q86XN7
geneSymbol: PROSER1
name: Proline and serine-rich protein 1
length: 944
go: ENSG00000120685;
snps: rs3751379 rs17058955
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XN7-1; Sequence=Displayed; Name=2; IsoId=Q86XN7-2; Sequence=VSP_055641; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q53SZ7
geneSymbol: PRR30
name: Proline-rich protein 30
length: 412
go: ENSG00000186143;
snps: rs17855664 rs3739097
sequence:


uniprotID: Q99633
geneSymbol: PRPF18
pdb: 2DK4;
name: Pre-mRNA-splicing factor 18 (PRP18 homolog) (hPRP18)
length: 342
go: ENSG00000165630;
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type post-spliceosomal complex [GO:0071021]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; generation of catalytic spliceosome for second transesterification step [GO:0000350]; mRNA processing [GO:0006397]; nuclear retention of unspliced pre-mRNA at the site of transcription [GO:0071048]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99633-1; Sequence=Displayed; Name=2; IsoId=Q99633-2; Sequence=VSP_008327, VSP_008328; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250}. Note=Colocalizes with spliceosomal snRNPs. {ECO:0000250}.


uniprotID: Q86TP1
geneSymbol: PRUNE1
length: 453
go: ENSG00000143363;
snps: rs1057521927 rs1085308033 rs773618224 rs767769359 rs752599948 rs3738477 rs3738477
name:
Exopolyphosphatase PRUNE1 (EC 3.6.1.1) (Drosophila-related expressed sequence 17) (DRES-17) (DRES17) (HTcD37) (Protein prune homolog 1) (hPrune)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; exopolyphosphatase activity [GO:0004309]; inorganic diphosphatase activity [GO:0004427]; metal ion binding [GO:0046872]; phosphatase activity [GO:0016791]; tubulin binding [GO:0015631]; polyphosphate catabolic process [GO:0006798]; regulation of microtubule polymerization [GO:0031113]; regulation of neurogenesis [GO:0050767]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q86TP1-1; Sequence=Displayed; Name=2; IsoId=Q86TP1-2; Sequence=VSP_034016; Note=No experimental confirmation available.; Name=3; IsoId=Q86TP1-3; Sequence=VSP_034014; Note=No experimental confirmation available.; Name=4; IsoId=Q86TP1-4; Sequence=VSP_034015, VSP_034017; Note=No experimental confirmation available.; Name=5; IsoId=Q86TP1-5; Sequence=VSP_034014, VSP_034017; Note=No experimental confirmation available.; Name=6; IsoId=Q86TP1-6; Sequence=VSP_034013, VSP_034017; Note=No experimental confirmation available.; Name=7; IsoId=Q86TP1-7; Sequence=VSP_034013; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell junction, focal adhesion. Note=In some transfected cells a nuclear staining is also observed.


uniprotID: P79522
geneSymbol: PRR3
name: Proline-rich protein 3 (MHC class I region proline-rich protein CAT56)
length: 188
go: ENSG00000204576;
opentargets: metal ion binding [GO:0046872]; RNA binding [GO:0003723]
snps: rs3888778
sequence:
MPKRKKQNHHQPPTQQQPPLPEREETGDEEDGSPIGPPSLLGPPPMANGKPGDPKSALHRGPPGSRGPLIPPLLSLPPPPWGRGPIRRGLGPRSSPYGRGWWGVNAEPPFPGPGHGGPTRGSFHKEQRNPRRLKSWSLIKNTCPPKDDPQVMEDKSDRPVCRHFAKKGHCRYEDLCAFYHPGVNGPPL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P79522-1; Sequence=Displayed; Name=2; IsoId=P79522-2; Sequence=VSP_012818; Note=No experimental confirmation available.; 


uniprotID: O43395
geneSymbol: PRPF3
reactome: R-HSA-72163;
pdb: 1X4Q;3JCR;5O9Z;
length: 683
go: ENSG00000117360;
snps: rs12736964 rs121434242 rs121434241
name:
U4/U6 small nuclear ribonucleoprotein Prp3 (Pre-mRNA-splicing factor 3) (hPrp3) (U4/U6 snRNP 90 kDa protein)

sequence:

opentargets:
Cajal body [GO:0015030]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]; spliceosomal tri-snRNP complex assembly [GO:0000244]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43395-1; Sequence=Displayed; Name=2; IsoId=O43395-3; Sequence=VSP_056265, VSP_056266, VSP_056267; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17932117, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:9328476, ECO:0000269|PubMed:9404889}. Nucleus speckle.


uniprotID: Q13523
geneSymbol: PRPF4B
pdb: 4IAN;4IFC;4IIR;4IJP;6CNH;
length: 1007
go: ENSG00000112739;
snps: rs9503893 rs56267049 rs1230491406
location: SUBCELLULAR LOCATION: Nucleus.
name:
Serine/threonine-protein kinase PRP4 homolog (EC 2.7.11.1) (PRP4 kinase) (PRP4 pre-mRNA-processing factor 4 homolog)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; chromosome [GO:0005694]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; protein phosphorylation [GO:0006468]; RNA splicing [GO:0008380]


uniprotID: Q6ZR98
geneSymbol: PRSS43
name: Putative inactive serine protease 43
length: 269
opentargets: extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZR98-2; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on partial mRNA and EST data. {ECO:0000305}; Name=2; IsoId=Q6ZR98-1; Sequence=VSP_059639, VSP_059640; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; 


uniprotID: Q96HE9
geneSymbol: PRR11
name: Proline-rich protein 11
length: 360
go: ENSG00000068489;
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; cell cycle arrest [GO:0007050]; regulation of cell cycle [GO:0051726]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23242552, ECO:0000269|PubMed:23246489}. Nucleus {ECO:0000269|PubMed:23246489}.


uniprotID: Q9ULL5
geneSymbol: PRR12
name: Proline-rich protein 12
length: 1215
go: ENSG00000126464;
sequence:

opentargets:
cell junction [GO:0030054]; neuron projection [GO:0043005]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULL5-1; Sequence=Displayed; Name=2; IsoId=Q9ULL5-2; Sequence=VSP_019503; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULL5-3; Sequence=VSP_040929; Note=No experimental confirmation available. Prediction based on ortholog sequences. {ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:21406692, ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:E9PYL2}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:E9PYL2}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:E9PYL2}.


uniprotID: Q9NZ81
geneSymbol: PRR13
name: Proline-rich protein 13 (Taxane-resistance protein)
length: 148
go: ENSG00000205352;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16847352}.
sequence:
MWNPNAGQPGPNPYPPNIGCPGGSNPAHPPPINPPFPPGPCPPPPGAPHGNPAFPPGGPPHPVPQPGYPGCQPLGPYPPPYPPPAPGIPPVNPLAPGMVGPAVIVDKKMQKKMKKAHKKMHKHQKHHKYHKHGKHSSSSSSSSSSDSD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZ81-1; Sequence=Displayed; Name=2; IsoId=Q9NZ81-2; Sequence=VSP_024394; Note=No experimental confirmation available.; 


uniprotID: P25788
geneSymbol: PSMA3
length: 255
go: ENSG00000100567;
pdb:
4R3O;4R67;5A0Q;5DSV;5GJQ;5GJR;5L4G;5LE5;5LEX;5LEY;5LEZ;5LF0;5LF1;5LF3;5LF4;5LF6;5LF7;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VFO;5VFP;5VFQ;5VFR;5VFS;5VFT;5VFU;6AVO;

name:
Proteasome subunit alpha type-3 (EC 3.4.25.1) (Macropain subunit C8) (Multicatalytic endopeptidase complex subunit C8) (Proteasome component C8)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proteasome complex [GO:0000502]; proteasome core complex [GO:0005839]; proteasome core complex, alpha-subunit complex [GO:0019773]; synapse [GO:0045202]; endopeptidase activity [GO:0004175]; threonine-type endopeptidase activity [GO:0004298]; ubiquitin protein ligase binding [GO:0031625]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; regulation of endopeptidase activity [GO:0052548]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25788-1; Sequence=Displayed; Name=2; IsoId=P25788-2; Sequence=VSP_005280; 


uniprotID: O15355
geneSymbol: PPM1G
length: 546
go: ENSG00000115241;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
name:
Protein phosphatase 1G (EC 3.1.3.16) (Protein phosphatase 1C) (Protein phosphatase 2C isoform gamma) (PP2C-gamma) (Protein phosphatase magnesium-dependent 1 gamma)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; cell cycle arrest [GO:0007050]; peptidyl-threonine dephosphorylation [GO:0035970]; protein dephosphorylation [GO:0006470]


uniprotID: Q8TCE9
geneSymbol: LGALS14
name: Placental protein 13-like (Charcot-Leyden crystal protein 2) (CLC2) (Galectin-14) (Gal-14)
length: 139
go: ENSG00000006659;
snps: rs4830 rs10755
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11997112}.
sequence:
MSSLPVPYTLPVSLPVGSCVIITGTPILTFVKDPQLEVNFYTGMDEDSDIAFQFRLHFGHPAIMNSCVFGIWRYEEKCYYLPFEDGKPFELCIYVRHKEYKVMVNGQRIYNFAHRFPPASVKMLQVFRDISLTRVLISD

opentargets:
nucleus [GO:0005634]; carbohydrate binding [GO:0030246]; apoptotic process [GO:0006915]; positive regulation of T cell apoptotic process [GO:0070234]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCE9-1; Sequence=Displayed; Name=2; IsoId=Q8TCE9-2; Sequence=VSP_047067; Note=Gene prediction based on EST data.; 


uniprotID: P45877
geneSymbol: PPIC
pdb: 2ESL;
name: Peptidyl-prolyl cis-trans isomerase C (PPIase C) (EC 5.2.1.8) (Cyclophilin C) (Rotamase C)
length: 212
go: ENSG00000168938;
drug: DB00172;
snps: rs34341374 rs45560036 rs451195
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P30412}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]


uniprotID: Q96MI6
geneSymbol: PPM1M
name: Protein phosphatase 1M (EC 3.1.3.16) (Protein phosphatase 2C isoform eta) (PP2C-eta) (PP2CE)
length: 270
go: ENSG00000164088;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; manganese ion binding [GO:0030145]; protein serine/threonine phosphatase activity [GO:0004722]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000305}; IsoId=Q96MI6-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000305}; IsoId=Q96MI6-2; Sequence=VSP_050663, VSP_050664; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000305}; IsoId=Q96MI6-3; Sequence=VSP_050660, VSP_050661, VSP_050662; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000305}; IsoId=Q96MI6-4; Sequence=VSP_050659, VSP_050662; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O43586
geneSymbol: PSTPIP1
reactome: R-HSA-844456;
pdb: 2DIL;
length: 416
go: ENSG00000140368;
name:
Proline-serine-threonine phosphatase-interacting protein 1 (PEST phosphatase-interacting protein 1) (CD2-binding protein 1) (H-PIP)

sequence:

opentargets:
actin filament [GO:0005884]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; uropod [GO:0001931]; actin filament binding [GO:0051015]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; actin filament polymerization [GO:0030041]; cell adhesion [GO:0007155]; endocytosis [GO:0006897]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; signal transduction [GO:0007165]

snps:
rs1141038 rs1141039 rs1141041 rs1141042 rs1141043 rs1141044 rs1141045 rs121908130 rs28939089 rs28939089 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CD2BP1L; IsoId=O43586-1; Sequence=Displayed; Name=2; Synonyms=CD2BP1S; IsoId=O43586-2; Sequence=VSP_015627; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9857189}. Cell membrane {ECO:0000269|PubMed:18480402, ECO:0000269|PubMed:9857189}; Peripheral membrane protein {ECO:0000269|PubMed:9857189}. Cell projection, uropodium {ECO:0000269|PubMed:18480402}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19109554, ECO:0000269|PubMed:19584923}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P97814}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:P97814}. Cleavage furrow {ECO:0000250|UniProtKB:P97814}. Note=Mainly cytoplasmic in T-cells (PubMed:9857189). Colocalizes in cluster with CD2 near the cell surface membrane in activated T-cells (PubMed:9857189). In monocytes, forms a branched filamentous network in the cytoplasm (PubMed:19584923). In transfected cells, forms relatively straight filaments radiating out from the nucleus (PubMed:19584923). Filament formation requires an intact tubulin cytoskeleton (PubMed:19584923). In migrating neutrophils, colocalizes with PIP5K1C and DNM2 to the trailing edge of the uropod in a actin-dependent manner (PubMed:18480402). Colocalized with PTPN12 in the cytoplasm and the perinuclear region. During interphase, colocalizes with F-actin in the cortical cytoskeleton, lamellipodia, and stress fibers. In dividing cells, colocalizes with the F-actin rich cytokinetic cleavage furrow. Colocalized with CD2AP and WAS in the actin cytoskeleton within the cytoplasm. Colocalized with CD2, CD2AP and WAS at the site of T-cell:APC contact (By similarity). {ECO:0000250|UniProtKB:P97814, ECO:0000269|PubMed:18480402, ECO:0000269|PubMed:19584923, ECO:0000269|PubMed:9857189}.


uniprotID: P53041
geneSymbol: PPP5C
reactome: R-HSA-5675221;R-HSA-5693565;R-HSA-8939211;
pdb: 1A17;1S95;1WAO;2BUG;3H60;3H61;3H62;3H63;3H64;3H66;3H67;3H68;3H69;4ZVZ;4ZX2;5HPE;5UI1;5WG8;
name: Serine/threonine-protein phosphatase 5 (PP5) (EC 3.1.3.16) (Protein phosphatase T) (PP-T) (PPT)
length: 499
go: ENSG00000011485;
sequence:

opentargets:
chaperone complex [GO:0101031]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; proximal dendrite [GO:1990635]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; G-protein alpha-subunit binding [GO:0001965]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; phosphatase activity [GO:0016791]; phosphoprotein phosphatase activity [GO:0004721]; protein serine/threonine phosphatase activity [GO:0004722]; RNA binding [GO:0003723]; cellular response to cadmium ion [GO:0071276]; cellular response to hydrogen peroxide [GO:0070301]; DNA repair [GO:0006281]; histone dephosphorylation [GO:0016576]; MAPK cascade [GO:0000165]; mitotic cell cycle [GO:0000278]; negative regulation of neuron death [GO:1901215]; negative regulation of protein phosphorylation [GO:0001933]; peptidyl-serine dephosphorylation [GO:0070262]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of glucocorticoid receptor signaling pathway [GO:2000324]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein dephosphorylation [GO:0006470]; protein heterooligomerization [GO:0051291]; response to arachidonic acid [GO:1904550]; response to lead ion [GO:0010288]; response to morphine [GO:0043278]; transcription, DNA-templated [GO:0006351]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15383005}. Cytoplasm {ECO:0000269|PubMed:15383005, ECO:0000269|PubMed:19948726}. Cell membrane {ECO:0000269|PubMed:19948726}. Note=Predominantly nuclear (PubMed:15383005). But also present in the cytoplasm (PubMed:15383005). Translocates from the cytoplasm to the plasma membrane in a RAC1-dependent manner (PubMed:19948726). {ECO:0000269|PubMed:15383005, ECO:0000269|PubMed:19948726}.


uniprotID: Q8WY54
geneSymbol: PPM1E
length: 755
go: ENSG00000175175;
name:
Protein phosphatase 1E (EC 3.1.3.16) (Ca(2+)/calmodulin-dependent protein kinase phosphatase N) (CaMKP-N) (CaMKP-nucleus) (CaMKN) (Partner of PIX 1) (Partner of PIX-alpha) (Partner of PIXA)

sequence:

opentargets:
mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; cellular response to drug [GO:0035690]; negative regulation of protein kinase activity [GO:0006469]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of stress fiber assembly [GO:0051496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q8WY54-2; Sequence=Displayed; Name=3; IsoId=Q8WY54-3; Sequence=VSP_025198; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15496589, ECO:0000269|PubMed:16269004}. Cytoplasm {ECO:0000269|PubMed:15496589, ECO:0000269|PubMed:16269004}. Note=A truncated form, major form, with the C-terminal part missing, is mostly found in the cytoplasm and a little in the nucleus. The full-length, minor form, is found in the nucleus. {ECO:0000269|PubMed:15496589, ECO:0000269|PubMed:16269004}.


uniprotID: Q5T8A7
geneSymbol: PPP1R26
name: Protein phosphatase 1 regulatory subunit 26
length: 1209
go: ENSG00000196422;
snps: rs3748192 rs3928777 rs914644 rs1808998 rs3748195 rs17854528 rs2078266
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:16053918}.
sequence:

opentargets:
nucleolus [GO:0005730]; protein phosphatase inhibitor activity [GO:0004864]; negative regulation of phosphatase activity [GO:0010923]


uniprotID: Q86WC6
geneSymbol: PPP1R27
name: Protein phosphatase 1 regulatory subunit 27 (Dysferlin-interacting protein 1) (Toonin)
length: 154
go: ENSG00000182676;
sequence:
MPSRTARYARYSPRQRRRRMLADRSVRFPNDVLFLDHIRQGDLEQVGRFIRTRKVSLATIHPSGLAALHEAVLSGNLECVKLLVKYGADIHQRDEAGWTPLHIACSDGYPDIARYLISLGADRDATNDDGDLPSDLIDPDYKELVELFKGTTMD

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


uniprotID: Q9Y3C6
geneSymbol: PPIL1
reactome: R-HSA-72163;
pdb: 1XWN;2K7N;2X7K;5MQF;5XJC;5YZG;5Z56;5Z57;6FF4;
name: Peptidyl-prolyl cis-trans isomerase-like 1 (PPIase) (EC 5.2.1.8) (Rotamase PPIL1)
length: 166
go: ENSG00000137168;
snps: rs12194408
sequence:
MAAIPPDSWQPPNVYLETSMGIIVLELYWKHAPKTCKNFAELARRGYYNGTKFHRIIKDFMIQGGDPTGTGRGGASIYGKQFEDELHPDLKFTGAGILAMANAGPDTNGSQFFVTLAPTQWLDGKHTIFGRVCQGIGMVNRVGMVETNSQDRPVDDVKIIKAYPSG

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type catalytic step 2 spliceosome [GO:0071007]; cyclosporin A binding [GO:0016018]; disordered domain specific binding [GO:0097718]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; mRNA splicing, via spliceosome [GO:0000398]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.


uniprotID: Q7Z5V6
geneSymbol: PPP1R32
name: Protein phosphatase 1 regulatory subunit 32
length: 425
go: ENSG00000162148;
opentargets: phosphatase binding [GO:0019902]
snps: rs11230707 rs12787061
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z5V6-1; Sequence=Displayed; Name=2; IsoId=Q7Z5V6-2; Sequence=VSP_022731; Note=No experimental confirmation available.; 


uniprotID: P06401
geneSymbol: PGR
reactome: R-HSA-1251985;R-HSA-3371497;R-HSA-383280;R-HSA-4090294;R-HSA-9018519;
name: Progesterone receptor (PR) (Nuclear receptor subfamily 3 group C member 3)
length: 933
go: ENSG00000082175;
pdb:
1A28;1E3K;1SQN;1SR7;1ZUC;2C7A;2OVH;2OVM;2W8Y;3D90;3G8O;3HQ5;3KBA;3ZR7;3ZRA;3ZRB;4A2J;4APU;4OAR;5CC0;

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; nucleoplasm [GO:0005654]; ATPase binding [GO:0051117]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; nuclear receptor activity [GO:0004879]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; signaling receptor binding [GO:0005102]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; cell-cell signaling [GO:0007267]; epithelial cell maturation [GO:0002070]; lung alveolus development [GO:0048286]; negative regulation of gene expression [GO:0010629]; ovulation from ovarian follicle [GO:0001542]; paracrine signaling [GO:0038001]; positive regulation of transcription by RNA polymerase II [GO:0045944]; progesterone receptor signaling pathway [GO:0050847]; regulation of epithelial cell proliferation [GO:0050678]; signal transduction [GO:0007165]; tertiary branching involved in mammary gland duct morphogenesis [GO:0060748]; transcription initiation from RNA polymerase II promoter [GO:0006367]

drug:
DB01431;DB01406;DB00304;DB01395;DB00378;DB00823;DB00294;DB00588;DB06789;DB00367;DB00603;DB00351;DB02998;DB00834;DB06713;DB00717;DB00957;DB09389;DB05253;DB00396;DB00421;DB04787;DB08867;

snps:
rs11571143 rs11571144 rs11571145 rs11571146 rs3740753 rs11571147 rs11571150 rs11571151 rs11571152 rs2020874 rs11571222 rs1042838 rs2020880 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=B; Synonyms=PRB, PR-B; IsoId=P06401-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=A; Synonyms=PRA, PR-A; IsoId=P06401-2; Sequence=VSP_003706; Note=Produced by alternative promoter usage.; Name=3; IsoId=P06401-3; Sequence=VSP_046942; Note=Produced by alternative splicing of isoform B.; Name=4; Synonyms=PR-M; IsoId=P06401-4; Sequence=VSP_047454, VSP_047455; Note=Produced by alternative promoter usage.; Name=5; Synonyms=delta4; IsoId=P06401-5; Sequence=VSP_053543; Note=Produced by alternative splicing of isoform B.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Nucleoplasmic shuttling is both hormone- and cell cycle-dependent. On hormone stimulation, retained in the cytoplasm in the G(1) and G(2)/M phases.; SUBCELLULAR LOCATION: Isoform A: Nucleus. Cytoplasm. Note=Mainly nuclear.; SUBCELLULAR LOCATION: Isoform 4: Mitochondrion outer membrane {ECO:0000269|PubMed:23518922}.


uniprotID: O75626
geneSymbol: PRDM1
reactome: R-HSA-6804754;
pdb: 3DAL;
length: 825
go: ENSG00000057657;
snps: rs2185379 rs811925
name:
PR domain zinc finger protein 1 (EC 2.1.1.-) (BLIMP-1) (Beta-interferon gene positive regulatory domain I-binding factor) (PR domain-containing protein 1) (Positive regulatory domain I-binding factor 1) (PRDI-BF1) (PRDI-binding factor 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; promoter-specific chromatin binding [GO:1990841]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; adaptive immune response [GO:0002250]; aorta development [GO:0035904]; artery morphogenesis [GO:0048844]; cell fate commitment [GO:0045165]; coronary vasculature development [GO:0060976]; eye photoreceptor cell development [GO:0042462]; germ cell development [GO:0007281]; heart valve development [GO:0003170]; innate immune response [GO:0045087]; intestinal epithelial cell development [GO:0060576]; maternal placenta development [GO:0001893]; morphogenesis of a branching structure [GO:0001763]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of gene expression [GO:0010628]; post-embryonic development [GO:0009791]; regulation of cell proliferation [GO:0042127]; regulation of extrathymic T cell differentiation [GO:0033082]; regulation of natural killer cell differentiation [GO:0032823]; regulation of NK T cell differentiation [GO:0051136]; sebum secreting cell proliferation [GO:1990654]; trophoblast giant cell differentiation [GO:0060707]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75626-1; Sequence=Displayed; Name=2; IsoId=O75626-2; Sequence=VSP_039188; Name=3; IsoId=O75626-3; Sequence=VSP_043646, VSP_043647; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q60636}. Cytoplasm {ECO:0000269|PubMed:21421998}.


uniprotID: Q9NQX1
geneSymbol: PRDM5
name: PR domain zinc finger protein 5 (EC 2.1.1.-) (PR domain-containing protein 5)
length: 630
go: ENSG00000138738;
snps: rs387907111
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15077163, ECO:0000269|PubMed:17636019}.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cellular response to leukemia inhibitory factor [GO:1990830]; histone deacetylation [GO:0016575]; histone H3-K9 methylation [GO:0051567]; mitotic cell cycle [GO:0000278]; 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=4;  Name=1; IsoId=Q9NQX1-1; Sequence=Displayed; Name=2; IsoId=Q9NQX1-2; Sequence=VSP_035654; Name=3; IsoId=Q9NQX1-3; Sequence=VSP_035652, VSP_035653; Name=4; IsoId=Q9NQX1-4; Sequence=VSP_035654, VSP_054395, VSP_054396; Note=No experimental confirmation available.; 


uniprotID: Q06830
geneSymbol: PRDX1
reactome: R-HSA-3299685;R-HSA-5628897;R-HSA-8862803;
pdb: 2RII;3HY2;4XCS;
length: 199
go: ENSG00000117450;
snps: rs34034070
name:
Peroxiredoxin-1 (EC 1.11.1.15) (Natural killer cell-enhancing factor A) (NKEF-A) (Proliferation-associated gene protein) (PAG) (Thioredoxin peroxidase 2) (Thioredoxin-dependent peroxide reductase 2)

sequence:
MSSGNAKIGHPAPNFKATAVMPDGQFKDISLSDYKGKYVVFFFYPLDFTFVCPTEIIAFSDRAEEFKKLNCQVIGASVDSHFCHLAWVNTPKKQGGLGPMNIPLVSDPKRTIAQDYGVLKADEGISFRGLFIIDDKGILRQITVNDLPVGRSVDETLRLVQAFQFTDKHGEVCPAGWKPGSDTIKPDVQKSKEYFSKQK

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; melanosome [GO:0042470]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; peroxidase activity [GO:0004601]; RNA binding [GO:0003723]; thioredoxin peroxidase activity [GO:0008379]; cell proliferation [GO:0008283]; cell redox homeostasis [GO:0045454]; cellular response to oxidative stress [GO:0034599]; erythrocyte homeostasis [GO:0034101]; hydrogen peroxide catabolic process [GO:0042744]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; regulation of NIK/NF-kappaB signaling [GO:1901222]; regulation of stress-activated MAPK cascade [GO:0032872]; removal of superoxide radicals [GO:0019430]; response to oxidative stress [GO:0006979]; retina homeostasis [GO:0001895]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:9497357}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: P16471
geneSymbol: PRLR
reactome: R-HSA-1170546;R-HSA-982772;
pdb: 1BP3;2LFG;2N7I;3D48;3MZG;3N06;3N0P;3NCB;3NCC;3NCE;3NCF;4I18;
name: Prolactin receptor (PRL-R)
length: 622
go: ENSG00000113494;
drug: DB01185;DB00052;
snps: rs2228482 rs72478580 rs398122522
sequence:

opentargets:
cell surface [GO:0009986]; endosome lumen [GO:0031904]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; metal ion binding [GO:0046872]; ornithine decarboxylase activator activity [GO:0042978]; peptide hormone binding [GO:0017046]; prolactin receptor activity [GO:0004925]; protein homodimerization activity [GO:0042803]; activation of Janus kinase activity [GO:0042976]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; cell surface receptor signaling pathway [GO:0007166]; embryo implantation [GO:0007566]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; lactation [GO:0007595]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cold-induced thermogenesis [GO:0120162]; steroid biosynthetic process [GO:0006694]; T cell activation [GO:0042110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=P16471-1; Sequence=Displayed; Name=2; Synonyms=Delta-S1; IsoId=P16471-2; Sequence=VSP_001720; Name=3; IsoId=P16471-3; Sequence=VSP_012620, VSP_012621; Note=Soluble isoform that appears specific for the BT-474 breast cancer cell line.; Name=4; Synonyms=SF1a, Short form 1a; IsoId=P16471-4; Sequence=VSP_026537, VSP_026539; Note=Includes exon 11. Does not transduce prolactin signaling.; Name=5; Synonyms=Intermediate; IsoId=P16471-5; Sequence=VSP_026536, VSP_026538; Note=Produced by deletion of part of exon 10 and frameshift.; Name=6; Synonyms=SF1b, Short form 1b; IsoId=P16471-6; Sequence=VSP_026534, VSP_026535; Note=Does not transduce prolactin signaling.; Name=7; Synonyms=Delta 7/11; IsoId=P16471-7; Sequence=VSP_026532, VSP_026533; Note=Splices from exon 7 to exon 11.; Name=8; Synonyms=Delta 4-SF1b; IsoId=P16471-8; Sequence=VSP_026531, VSP_026534, VSP_026535; Note=SF1b with deletion of exon 4. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=9; Synonyms=SF1c, Short form 1c; IsoId=P16471-9; Sequence=VSP_047882, VSP_047883; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:12580759}; Single-pass type I membrane protein {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:12580759}.; SUBCELLULAR LOCATION: Isoform 7: Secreted.


uniprotID: P20265
geneSymbol: POU3F2
length: 443
go: ENSG00000184486;
location: SUBCELLULAR LOCATION: Nucleus.
name:
POU domain, class 3, transcription factor 2 (Brain-specific homeobox/POU domain protein 2) (Brain-2) (Brn-2) (Nervous system-specific octamer-binding transcription factor N-Oct-3) (Octamer-binding protein 7) (Oct-7) (Octamer-binding transcription factor 7) (OTF-7)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; astrocyte development [GO:0014002]; cellular response to organic substance [GO:0071310]; cerebral cortex radially oriented cell migration [GO:0021799]; epidermis development [GO:0008544]; forebrain ventricular zone progenitor cell division [GO:0021869]; hypothalamus cell differentiation [GO:0021979]; myelination in peripheral nervous system [GO:0022011]; negative regulation of gene expression [GO:0010629]; nervous system development [GO:0007399]; neurohypophysis development [GO:0021985]; neuron development [GO:0048666]; neuron differentiation [GO:0030182]; neuron fate commitment [GO:0048663]; neuron fate specification [GO:0048665]; positive regulation of cell proliferation [GO:0008284]; positive regulation of multicellular organism growth [GO:0040018]; regulation of axonogenesis [GO:0050770]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=N-OCT 3; IsoId=P20265-1; Sequence=Displayed; Name=N-OCT 5A; IsoId=P20265-2; Sequence=VSP_018749; Name=N-OCT 5B; IsoId=P20265-3; Sequence=VSP_018750; 


uniprotID: Q9UKY4
geneSymbol: POMT2
reactome: R-HSA-5083629;R-HSA-5173105;
length: 750
go: ENSG00000009830;
name:
Protein O-mannosyl-transferase 2 (EC 2.4.1.109) (Dolichyl-phosphate-mannose--protein mannosyltransferase 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; dolichyl-phosphate-mannose-protein mannosyltransferase activity [GO:0004169]; metal ion binding [GO:0046872]; ER-associated misfolded protein catabolic process [GO:0071712]; positive regulation of protein O-linked glycosylation [GO:1904100]

snps:
rs8177536 rs267606971 rs267606972 rs267606966 rs267606970 rs267606965 rs190285831 rs765346043 rs267606968 rs200198778 rs267606969 rs267606964 rs267606967 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKY4-1; Sequence=Displayed; Name=2; IsoId=Q9UKY4-2; Sequence=VSP_041457; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12460945, ECO:0000269|PubMed:14699049}; Multi-pass membrane protein {ECO:0000269|PubMed:12460945, ECO:0000269|PubMed:14699049}.


uniprotID: P49593
geneSymbol: PPM1F
length: 454
go: ENSG00000100034;
snps: rs9610645 rs2070507
name:
Protein phosphatase 1F (EC 3.1.3.16) (Ca(2+)/calmodulin-dependent protein kinase phosphatase) (CaM-kinase phosphatase) (CaMKPase) (Partner of PIX 2) (Protein fem-2 homolog) (hFem-2)

sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; calmodulin-dependent protein phosphatase activity [GO:0033192]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; cellular response to drug [GO:0035690]; histone dephosphorylation [GO:0016576]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of cell-cell adhesion mediated by cadherin [GO:2000048]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; negative regulation of protein transport [GO:0051224]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-serine dephosphorylation [GO:0070262]; peptidyl-threonine dephosphorylation [GO:0035970]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of chemotaxis [GO:0050921]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of gene expression [GO:0010628]; positive regulation of growth [GO:0045927]; positive regulation of stress fiber assembly [GO:0051496]; regulation of cellular protein localization [GO:1903827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49593-1; Sequence=Displayed; Name=2; IsoId=P49593-2; Sequence=VSP_056483, VSP_056484; Note=No experimental confirmation available.; 


uniprotID: Q6NYC8
geneSymbol: PPP1R18
length: 613
go: ENSG00000146112;
snps: rs9262144 rs9262143 rs2213944
name:
Phostensin (Protein phosphatase 1 F-actin cytoskeleton-targeting subunit) (Protein phosphatase 1 regulatory subunit 18)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; actin binding [GO:0003779]; phosphatase binding [GO:0019902]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=110 kDa, phostensin-beta; IsoId=Q6NYC8-1; Sequence=Displayed; Name=2; IsoId=Q6NYC8-2; Sequence=VSP_014258, VSP_014259; Name=3; IsoId=Q6NYC8-3; Sequence=VSP_057118, VSP_057119; Note=No experimental confirmation available.; Name=4; Synonyms=26kDa, phostensin-alpha; IsoId=Q6NYC8-4; Sequence=VSP_057117; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24434620}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17374523}.


uniprotID: Q5R3F8
geneSymbol: ELFN2
length: 820
go: ENSG00000166897;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Protein phosphatase 1 regulatory subunit 29 (Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2) (Leucine-rich repeat and fibronectin type-III domain-containing protein 6) (Leucine-rich repeat-containing protein 62)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; protein phosphatase inhibitor activity [GO:0004864]; negative regulation of phosphatase activity [GO:0010923]


uniprotID: O96001
geneSymbol: PPP1R17
name: Protein phosphatase 1 regulatory subunit 17 (G-substrate)
length: 155
go: ENSG00000106341;
snps: rs36047130 rs3735422
sequence:
MMSTEQMQPLELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKPRKGKNVQATLNVESDQKKPRRKDTPALHIPPFIPGVFSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTPALHMSPFAAGVTLLRDERPKAIVEDDEKDGDKIAI

opentargets:
nucleoplasm [GO:0005654]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; central nervous system development [GO:0007417]; intracellular signal transduction [GO:0035556]; regulation of phosphatase activity [GO:0010921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O96001-1; Sequence=Displayed; Name=2; IsoId=O96001-2; Sequence=VSP_042736; Note=No experimental confirmation available.; 


uniprotID: Q70Z35
geneSymbol: PREX2
reactome: R-HSA-8948751;
length: 1606
go: ENSG00000046889;
snps: rs11784582 rs147538692
name:
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein (P-Rex2) (PtdIns(3,4,5)-dependent Rac exchanger 2) (DEP domain-containing protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; adult locomotory behavior [GO:0008344]; dendrite morphogenesis [GO:0048813]; G protein-coupled receptor signaling pathway [GO:0007186]; phosphatidylinositol 3-kinase signaling [GO:0014065]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=P-Rex2; IsoId=Q70Z35-1; Sequence=Displayed; Name=2; Synonyms=P-Rexw2A; IsoId=Q70Z35-2; Sequence=VSP_025149, VSP_025151, VSP_025153, VSP_025154, VSP_025155, VSP_025156, VSP_025157, VSP_025158, VSP_025159, VSP_025160, VSP_025161, VSP_025162, VSP_025163; Name=3; IsoId=Q70Z35-3; Sequence=VSP_025150, VSP_025152; Name=4; IsoId=Q70Z35-4; Sequence=VSP_055612, VSP_055613, VSP_055614; Note=No experimental confirmation available.; 


uniprotID: P49642
geneSymbol: PRIM1
reactome: R-HSA-113501;R-HSA-174411;R-HSA-174430;R-HSA-68952;R-HSA-68962;R-HSA-69091;R-HSA-69166;R-HSA-69183;
pdb: 4BPU;4BPW;4BPX;4LIK;4LIL;4MHQ;4RR2;5EXR;
name: DNA primase small subunit (EC 2.7.7.-) (DNA primase 49 kDa subunit) (p49)
length: 420
go: ENSG00000198056;
snps: rs2277339
sequence:

opentargets:
alpha DNA polymerase:primase complex [GO:0005658]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; DNA primase activity [GO:0003896]; metal ion binding [GO:0046872]; single-stranded DNA binding [GO:0003697]; DNA replication, synthesis of RNA primer [GO:0006269]; G1/S transition of mitotic cell cycle [GO:0000082]; telomere maintenance via semi-conservative replication [GO:0032201]


uniprotID: Q9NQX0
geneSymbol: PRDM6
length: 595
go: ENSG00000061455;
snps: rs879255279 rs879253872 rs879255278
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q3UZD5}.
name:
Putative histone-lysine N-methyltransferase PRDM6 (EC 2.1.1.43) (PR domain zinc finger protein 6) (PR domain-containing protein 6)

sequence:

opentargets:
nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; negative regulation of smooth muscle cell differentiation [GO:0051151]; negative regulation of transcription, DNA-templated [GO:0045892]; neurogenesis [GO:0022008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQX0-3; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9NQX0-2; Sequence=VSP_036348, VSP_006929; Name=3; Synonyms=A; IsoId=Q9NQX0-1; Sequence=VSP_036348; 


uniprotID: Q9NQW5
geneSymbol: PRDM7
reactome: R-HSA-212436;
length: 492
go: ENSG00000126856;
snps: rs12925933 rs2078478 rs7206111
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome {ECO:0000305}.
name:
Probable histone-lysine N-methyltransferase PRDM7 (EC 2.1.1.43) (PR domain zinc finger protein 7) (PR domain-containing protein 7)

sequence:

opentargets:
chromosome [GO:0005694]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; positive regulation of reciprocal meiotic recombination [GO:0010845]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQW5-3; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9NQW5-2; Sequence=VSP_036349, VSP_006930, VSP_006931; Name=3; Synonyms=A; IsoId=Q9NQW5-1; Sequence=VSP_036349, VSP_036350; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9NQV8
geneSymbol: PRDM8
name: PR domain zinc finger protein 8 (EC 2.1.1.-) (PR domain-containing protein 8)
length: 689
go: ENSG00000152784;
snps: rs863225286
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22961547}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; oligodendrocyte development [GO:0014003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQV8-1; Sequence=Displayed; Name=2; IsoId=Q9NQV8-2; Sequence=VSP_035602, VSP_035603; 


uniprotID: P04554
geneSymbol: PRM2
pdb: 2AWR;
length: 102
go: ENSG00000122304;
name:
Protamine-2 (Sperm histone P2) (Sperm protamine P2) [Cleaved into: Basic nuclear protein HPI1; Basic nuclear protein HPI2; Basic nuclear protein HPS1; Basic nuclear protein HPS2; Sperm histone HP4 (Sperm protamine P4); Sperm histone HP2 (Sperm protamine P2) (P2'); Sperm histone HP3 (P2'') (Sperm protamine P3)]

sequence:
MVRYRVRSLSERSHEVYRQQLHGQEQGHHGQEEQGLSPEHVEVYERTHGQSHYRRRHCSRRRLHRIHRRQHRSCRRRKRRSCRHRRRHRRGCRTRKRTCRRH

opentargets:
nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; cadmium ion binding [GO:0046870]; DNA binding [GO:0003677]; zinc ion binding [GO:0008270]; chromosome condensation [GO:0030261]; DNA packaging [GO:0006323]; multicellular organism development [GO:0007275]; nucleus organization [GO:0006997]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04554-1; Sequence=Displayed; Name=2; IsoId=P04554-2; Sequence=VSP_054786; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P07978}. Chromosome {ECO:0000250|UniProtKB:P07978}.


uniprotID: P30048
geneSymbol: PRDX3
reactome: R-HSA-3299685;
pdb: 5JCG;5UCX;
length: 256
go: ENSG00000165672;
snps: rs34698541 rs11554902 rs36064375 rs35697338
name:
Thioredoxin-dependent peroxide reductase, mitochondrial (EC 1.11.1.15) (Antioxidant protein 1) (AOP-1) (HBC189) (Peroxiredoxin III) (Prx-III) (Peroxiredoxin-3) (Protein MER5 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; protein-containing complex [GO:0032991]; alkyl hydroperoxide reductase activity [GO:0008785]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; thioredoxin peroxidase activity [GO:0008379]; cell redox homeostasis [GO:0045454]; cellular response to oxidative stress [GO:0034599]; cellular response to reactive oxygen species [GO:0034614]; hydrogen peroxide catabolic process [GO:0042744]; maternal placenta development [GO:0001893]; mitochondrion organization [GO:0007005]; myeloid cell differentiation [GO:0030099]; negative regulation of apoptotic process [GO:0043066]; negative regulation of kinase activity [GO:0033673]; peptidyl-cysteine oxidation [GO:0018171]; positive regulation of cell proliferation [GO:0008284]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; regulation of mitochondrial membrane potential [GO:0051881]; response to hydrogen peroxide [GO:0042542]; response to lipopolysaccharide [GO:0032496]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30048-1; Sequence=Displayed; Name=2; IsoId=P30048-2; Sequence=VSP_054050; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P35705}. Cytoplasm {ECO:0000305|PubMed:12492477}. Early endosome {ECO:0000269|PubMed:15750338}. Note=Localizes to early endosomes in a RPS6KC1-dependent manner. {ECO:0000269|PubMed:15750338}.


uniprotID: P23284
geneSymbol: PPIB
reactome: R-HSA-1650814;
pdb: 1CYN;3ICH;3ICI;
length: 216
go: ENSG00000166794;
drug: DB00172;
snps: rs137853864 rs11558595
name:
Peptidyl-prolyl cis-trans isomerase B (PPIase B) (EC 5.2.1.8) (CYP-S1) (Cyclophilin B) (Rotamase B) (S-cyclophilin) (SCYLP)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; melanosome [GO:0042470]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; smooth endoplasmic reticulum [GO:0005790]; cyclosporin A binding [GO:0016018]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; RNA polymerase binding [GO:0070063]; unfolded protein binding [GO:0051082]; bone development [GO:0060348]; chaperone-mediated protein folding [GO:0061077]; positive regulation by host of viral genome replication [GO:0044829]; positive regulation by host of viral process [GO:0044794]; positive regulation of multicellular organism growth [GO:0040018]; protein peptidyl-prolyl isomerization [GO:0000413]; protein stabilization [GO:0050821]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:1530944}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000269|PubMed:17081065}.


uniprotID: Q08752
geneSymbol: PPID
reactome: R-HSA-8939211;
length: 370
go: ENSG00000171497;
snps: rs2070631 rs2230222 rs9410 rs17843956
name:
Peptidyl-prolyl cis-trans isomerase D (PPIase D) (EC 5.2.1.8) (40 kDa peptidyl-prolyl cis-trans isomerase) (Cyclophilin-40) (CYP-40) (Cyclophilin-related protein) (Rotamase D)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclosporin A binding [GO:0016018]; estrogen receptor binding [GO:0030331]; heat shock protein binding [GO:0031072]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; transcription factor binding [GO:0008134]; unfolded protein binding [GO:0051082]; apoptotic process [GO:0006915]; cellular response to UV-A [GO:0071492]; chaperone-mediated protein folding [GO:0061077]; lipid droplet organization [GO:0034389]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein secretion [GO:0050714]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; protein refolding [GO:0042026]; protein transport [GO:0015031]; protein-containing complex assembly [GO:0065003]; regulation of mitochondrial membrane potential [GO:0051881]; viral release from host cell [GO:0019076]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11525244, ECO:0000269|PubMed:18708059}. Nucleus, nucleolus {ECO:0000269|PubMed:11525244, ECO:0000269|PubMed:18708059}. Nucleus, nucleoplasm {ECO:0000269|PubMed:11525244, ECO:0000269|PubMed:18708059}.


uniprotID: Q9UMR5
geneSymbol: PPT2
reactome: R-HSA-75105;
pdb: 1PJA;
name: Lysosomal thioesterase PPT2 (PPT-2) (EC 3.1.2.-) (S-thioesterase G14)
length: 302
go: ENSG00000221988;ENSG00000258388;
snps: rs3134604 rs3096696
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:9341199}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; palmitoyl hydrolase activity [GO:0098599]; palmitoyl-(protein) hydrolase activity [GO:0008474]; thiolester hydrolase activity [GO:0016790]; fatty-acyl-CoA biosynthetic process [GO:0046949]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UMR5-1; Sequence=Displayed; Name=2; Synonyms=I; IsoId=Q9UMR5-2; Sequence=VSP_005188; Note=Catalytically inactive due to lack of His-283. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9UMR5-3; Sequence=VSP_054027; Note=No experimental confirmation available.; 


uniprotID: P78424
geneSymbol: POU6F2
name: POU domain, class 6, transcription factor 2 (Retina-derived POU domain factor 1) (RPF-1)
length: 691
go: ENSG00000106536;
snps: rs2074936 rs4992268 rs7804851
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; central nervous system development [GO:0007417]; ganglion mother cell fate determination [GO:0007402]; regulation of transcription, DNA-templated [GO:0006355]; transcription by RNA polymerase II [GO:0006366]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78424-1; Sequence=Displayed; Note=Major isoform.; Name=2; IsoId=P78424-2; Sequence=VSP_002336; 


uniprotID: Q9BXR3
geneSymbol: ERVK-6
length: 956
name:
Endogenous retrovirus group K member 6 Pol protein (HERV-K(C7) Pol protein) (HERV-K(HML-2.HOM) Pol protein) (HERV-K108 Pol protein) (HERV-K_7p22.1 provirus ancestral Pol protein) [Includes: Reverse transcriptase (RT) (EC 2.7.7.49); Ribonuclease H (RNase H) (EC 3.1.26.4); Integrase (IN)]

sequence:

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


