# annotation

uniprotID: Q9HD67
geneSymbol: MYO10
reactome: R-HSA-2029482;R-HSA-373752;
pdb: 2LW9;3AU4;3AU5;3PZD;5I0H;5I0I;5KG8;
name: Unconventional myosin-X (Unconventional myosin-10)
length: 2058
go: ENSG00000145555;
snps: rs17707947 rs7737765 rs6870170 rs11750538 rs26740 rs25901
sequence:

opentargets:
cell cortex [GO:0005938]; cytosol [GO:0005829]; filopodium membrane [GO:0031527]; filopodium tip [GO:0032433]; lamellipodium [GO:0030027]; myosin complex [GO:0016459]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; plus-end directed microfilament motor activity [GO:0060002]; spectrin binding [GO:0030507]; cytoskeleton-dependent intracellular transport [GO:0030705]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; positive regulation of cell-cell adhesion [GO:0022409]; regulation of cell shape [GO:0008360]; regulation of filopodium assembly [GO:0051489]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HD67-1; Sequence=Displayed; Name=2; IsoId=Q9HD67-2; Sequence=VSP_054976, VSP_054977; Note=No experimental confirmation available.; Name=Headless; IsoId=Q9HD67-3; Sequence=VSP_054975; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10984435}. Cell projection, lamellipodium {ECO:0000269|PubMed:10984435}. Cell projection, ruffle {ECO:0000269|PubMed:10984435}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10984435}. Cell projection, filopodium tip {ECO:0000269|PubMed:10984435}. Cytoplasm, cell cortex {ECO:0000269|PubMed:10984435}. Cell projection, filopodium membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=May be in an inactive, monomeric conformation in the cytosol. Detected in cytoplasmic punctae and in cell projections. Colocalizes with actin fibers. Undergoes forward and rearward movements within filopodia. Interacts with microtubules.


uniprotID: Q3V5L5
geneSymbol: MGAT5B
length: 792
go: ENSG00000167889;
snps: rs571264
name:
Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B (EC 2.4.1.-) (EC 2.4.1.155) (Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B) (GlcNAc-T Vb) (GNT-Vb) (hGnTVb) (Mannoside acetylglucosaminyltransferase 5B) (N-acetylglucosaminyl-transferase Vb) (N-acetylglucosaminyltransferase IX) (GNT-IX)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity [GO:0030144]; metal ion binding [GO:0046872]; protein N-linked glycosylation [GO:0006487]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3V5L5-1; Sequence=Displayed; Name=2; IsoId=Q3V5L5-2; Sequence=VSP_025731, VSP_025734; Name=3; IsoId=Q3V5L5-5; Sequence=VSP_025734; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q765H6}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q765H6}.


uniprotID: Q9UQ53
geneSymbol: MGAT4B
reactome: R-HSA-975577;
length: 548
go: ENSG00000161013;
snps: rs190631 rs17854722
name:
Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B (EC 2.4.1.145) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVb) (GlcNAc-T IVb) (GnT-IVb) (N-acetylglucosaminyltransferase IVb) (UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVb)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity [GO:0008454]; metal ion binding [GO:0046872]; N-glycan processing [GO:0006491]; protein N-linked glycosylation [GO:0006487]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UQ53-1; Sequence=Displayed; Name=2; IsoId=Q9UQ53-2; Sequence=VSP_025716; Note=No experimental confirmation available.; Name=3; IsoId=Q9UQ53-3; Sequence=VSP_043231; Note=No experimental confirmation available.; 

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


uniprotID: Q9ULV0
geneSymbol: MYO5B
reactome: R-HSA-432040;
pdb: 4J5M;4LNZ;4LWZ;4LX0;
name: Unconventional myosin-Vb
length: 1848
go: ENSG00000167306;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P70569}.
sequence:

opentargets:
apical cortex [GO:0045179]; cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; myosin complex [GO:0016459]; protein-containing complex [GO:0032991]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; Rab GTPase binding [GO:0017137]; endosomal transport [GO:0016197]; protein transport [GO:0015031]; renal water homeostasis [GO:0003091]; vesicle-mediated transport [GO:0016192]

snps:
rs16951438 rs121908103 rs1815930 rs1053713532 rs17659179 rs753558336 rs121908105 rs121908106 rs2298624 rs2277716 rs72530399 rs112417235 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULV0-1; Sequence=Displayed; Name=2; IsoId=Q9ULV0-2; Sequence=VSP_056199, VSP_056200; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULV0-3; Sequence=VSP_056198; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: Q9NQX4
geneSymbol: MYO5C
pdb: 4L8T;4ZG4;5HMP;
name: Unconventional myosin-Vc
length: 1742
go: ENSG00000128833;
snps: rs55686434 rs3825801 rs17650440
sequence:

opentargets:
extracellular exosome [GO:0070062]; myosin complex [GO:0016459]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQX4-1; Sequence=Displayed; Name=2; IsoId=Q9NQX4-2; Sequence=VSP_056592, VSP_056593; Note=No experimental confirmation available.; 


uniprotID: Q6PIF6
geneSymbol: MYO7B
pdb: 5MV7;5MV8;5XBF;
name: Unconventional myosin-VIIb
length: 2116
go: ENSG00000169994;
snps: rs2404991 rs2245408 rs13025959 rs11686946
sequence:

opentargets:
apical cytoplasm [GO:0090651]; brush border [GO:0005903]; microvillus [GO:0005902]; myosin complex [GO:0016459]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; motor activity [GO:0003774]; brush border assembly [GO:1904970]; cell differentiation [GO:0030154]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PIF6-1; Sequence=Displayed; Name=2; IsoId=Q6PIF6-2; Sequence=VSP_032930, VSP_032931; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, microvillus {ECO:0000269|PubMed:24725409}. Note=Enriched in the microvilli of the intestinal brush border. {ECO:0000269|PubMed:24725409}.


uniprotID: B2RTY4
geneSymbol: MYO9A
reactome: R-HSA-194840;
name: Unconventional myosin-IXa (Unconventional myosin-9a)
length: 2548
go: ENSG00000066933;
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; unconventional myosin complex [GO:0016461]; actin binding [GO:0003779]; ATP binding [GO:0005524]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; motor activity [GO:0003774]; bioluminescence [GO:0008218]; cell junction assembly [GO:0034329]; establishment of epithelial cell apical/basal polarity [GO:0045198]; intracellular signal transduction [GO:0035556]; regulation of small GTPase mediated signal transduction [GO:0051056]; visual perception [GO:0007601]

snps:
rs17855105 rs2929516 rs11637562 rs754348944 rs2415129 rs55738821 rs16956375 rs16956367 rs2306575 rs74475742 rs2291280 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=B2RTY4-1; Sequence=Displayed; Name=2; IsoId=B2RTY4-2; Sequence=VSP_035157; Note=No experimental confirmation available.; Name=3; IsoId=B2RTY4-3; Sequence=VSP_035158, VSP_035159; Note=No experimental confirmation available.; Name=4; IsoId=B2RTY4-4; Sequence=VSP_035160; Name=5; IsoId=B2RTY4-5; Sequence=VSP_035156; Note=Lacks the ATP-binding domain which suggests that it cannot interact with actin.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9Z1N3}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9Z1N3}. Cytoplasm {ECO:0000250|UniProtKB:Q9Z1N3}. Note=Localized in the cytoplasm of cell bodies, dendrites and axons with occasional hints of an enrichment near the plasma membrane. {ECO:0000250|UniProtKB:Q9Z1N3}.


uniprotID: Q99972
geneSymbol: MYOC
pdb: 4WXQ;4WXS;4WXU;
length: 504
go: ENSG00000034971;
name:
Myocilin (Myocilin 55 kDa subunit) (Trabecular meshwork-induced glucocorticoid response protein) [Cleaved into: Myocilin, N-terminal fragment (Myocilin 20 kDa N-terminal fragment); Myocilin, C-terminal fragment (Myocilin 35 kDa N-terminal fragment)]

sequence:

opentargets:
cilium [GO:0005929]; collagen-containing extracellular matrix [GO:0062023]; cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial outer membrane [GO:0005741]; node of Ranvier [GO:0033268]; rough endoplasmic reticulum [GO:0005791]; fibronectin binding [GO:0001968]; frizzled binding [GO:0005109]; metal ion binding [GO:0046872]; myosin light chain binding [GO:0032027]; receptor tyrosine kinase binding [GO:0030971]; bone development [GO:0060348]; clustering of voltage-gated sodium channels [GO:0045162]; ERBB2-ERBB3 signaling pathway [GO:0038133]; myelination in peripheral nervous system [GO:0022011]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of stress fiber assembly [GO:0051497]; neuron projection development [GO:0031175]; non-canonical Wnt signaling pathway via JNK cascade [GO:0038031]; osteoblast differentiation [GO:0001649]; positive regulation of cell migration [GO:0030335]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of mitochondrial depolarization [GO:0051901]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of MAPK cascade [GO:0043408]; skeletal muscle hypertrophy [GO:0014734]

snps:
rs199752860 rs745439002 rs2234925 rs755246983 rs74315339 rs200208925 rs561439247 rs2234926 rs764005392 rs201552559 rs200120115 rs199746824 rs144579767 rs2234927 rs531050114 rs757769997 rs74315340 rs74315341 rs982896610 rs1351328951 rs139122673 rs748621461 rs146391864 rs74315335 rs61745146 rs137853277 rs1344039930 rs121909193 rs74315334 rs74315330 rs566289099 rs121909194 rs998968146 rs56314834 rs28936694 rs751113505 rs201573718 rs74315336 rs754237376 rs74315338 rs1200513428 rs74315328 rs140967767 rs771122834 rs750791099 rs554235897 rs74315331 rs74315331 rs74315332 rs145977437 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11431441, ECO:0000269|PubMed:12697062, ECO:0000269|PubMed:19287508, ECO:0000269|PubMed:9497363}. Golgi apparatus {ECO:0000269|PubMed:11053284}. Cytoplasmic vesicle {ECO:0000269|PubMed:11431441}. Secreted, extracellular space. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:11773026, ECO:0000305|PubMed:11431441}. Secreted, exosome {ECO:0000269|PubMed:15944158}. Mitochondrion {ECO:0000269|PubMed:17516541}. Mitochondrion intermembrane space {ECO:0000269|PubMed:17516541}. Mitochondrion inner membrane {ECO:0000269|PubMed:17516541}. Mitochondrion outer membrane {ECO:0000269|PubMed:17516541}. Rough endoplasmic reticulum {ECO:0000269|PubMed:19287508}. Cell projection. Cell projection, cilium {ECO:0000269|PubMed:9169133}. Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum (PubMed:9169133). It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541). Localizes to the Golgi apparatus in Schlemm's canal endothelial cells (PubMed:11053284). Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158). Localizes in trabecular meshwork extracellular matrix (PubMed:15944158). {ECO:0000269|PubMed:11053284, ECO:0000269|PubMed:15944158, ECO:0000269|PubMed:17516541, ECO:0000269|PubMed:9169133}.; SUBCELLULAR LOCATION: Myocilin, C-terminal fragment: Secreted.; SUBCELLULAR LOCATION: Myocilin, N-terminal fragment: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum.


uniprotID: P15172
geneSymbol: MYOD1
reactome: R-HSA-375170;
length: 320
go: ENSG00000129152;
snps: rs930939009 rs1471293207
location: SUBCELLULAR LOCATION: Nucleus.
name:
Myoblast determination protein 1 (Class C basic helix-loop-helix protein 1) (bHLHc1) (Myogenic factor 3) (Myf-3)

sequence:

opentargets:
cytosol [GO:0005829]; myofibril [GO:0030016]; nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; nuclear hormone receptor binding [GO:0035257]; promoter-specific chromatin binding [GO:1990841]; protein heterodimerization activity [GO:0046982]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; ubiquitin protein ligase binding [GO:0031625]; cellular response to estradiol stimulus [GO:0071392]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to oxygen levels [GO:0071453]; cellular response to starvation [GO:0009267]; cellular response to tumor necrosis factor [GO:0071356]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; muscle cell fate commitment [GO:0042693]; muscle organ development [GO:0007517]; myoblast fate determination [GO:0007518]; myoblast fusion [GO:0007520]; myotube cell development [GO:0014904]; myotube differentiation involved in skeletal muscle regeneration [GO:0014908]; negative regulation of myoblast proliferation [GO:2000818]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of skeletal muscle tissue regeneration [GO:0043415]; positive regulation of snRNA transcription by RNA polymerase II [GO:1905382]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of RNA splicing [GO:0043484]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle fiber adaptation [GO:0043503]; skeletal muscle fiber development [GO:0048741]; skeletal muscle tissue development [GO:0007519]


uniprotID: P15173
geneSymbol: MYOG
reactome: R-HSA-375170;
name: Myogenin (Class C basic helix-loop-helix protein 3) (bHLHc3) (Myogenic factor 4) (Myf-4)
length: 224
go: ENSG00000122180;
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; chromatin DNA binding [GO:0031490]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; cell cycle [GO:0007049]; cellular response to estradiol stimulus [GO:0071392]; cellular response to growth factor stimulus [GO:0071363]; cellular response to lithium ion [GO:0071285]; cellular response to magnetism [GO:0071259]; cellular response to retinoic acid [GO:0071300]; cellular response to tumor necrosis factor [GO:0071356]; mRNA transcription by RNA polymerase II [GO:0042789]; muscle cell fate commitment [GO:0042693]; myoblast differentiation [GO:0045445]; negative regulation of cell proliferation [GO:0008285]; negative regulation of glycolytic process [GO:0045820]; ossification [GO:0001503]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of muscle atrophy [GO:0014737]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of oxidative phosphorylation [GO:1903862]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of myoblast fusion [GO:1901739]; regulation of skeletal muscle satellite cell proliferation [GO:0014842]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; response to electrical stimulus involved in regulation of muscle adaptation [GO:0014878]; response to gravity [GO:0009629]; response to muscle activity involved in regulation of muscle adaptation [GO:0014873]; skeletal muscle atrophy [GO:0014732]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle fiber development [GO:0048741]; skeletal muscle tissue development [GO:0007519]; skeletal muscle tissue regeneration [GO:0043403]; striated muscle atrophy [GO:0014891]

location:
SUBCELLULAR LOCATION: Nucleus. Note=Recruited to late myogenic gene promoter regulatory sequences with SMARCA4/BRG1/BAF190A and SWI/SNF chromatin-remodeling enzymes to promote chromatin-remodeling and transcription initiation in developing embryos. {ECO:0000250}.


uniprotID: P54296
geneSymbol: MYOM2
length: 1465
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}.
name:
Myomesin-2 (165 kDa connectin-associated protein) (165 kDa titin-associated protein) (M-protein) (Myomesin family member 2)

sequence:

opentargets:
M band [GO:0031430]; mitochondrion [GO:0005739]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; kinase binding [GO:0019900]; muscle alpha-actinin binding [GO:0051371]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; extraocular skeletal muscle development [GO:0002074]; muscle contraction [GO:0006936]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]

snps:
rs35985218 rs17064618 rs2272720 rs34316994 rs36089594 rs35335787 rs2294066 rs968381 rs2280896 rs17854780 rs34735757 


uniprotID: Q5VTT5
geneSymbol: MYOM3
name: Myomesin-3 (Myomesin family member 3)
length: 1437
go: ENSG00000142661;
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}.
sequence:

opentargets:
M band [GO:0031430]; sarcomere [GO:0030017]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; muscle alpha-actinin binding [GO:0051371]; protein homodimerization activity [GO:0042803]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; muscle contraction [GO:0006936]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]

snps:
rs4319261 rs6678540 rs4233050 rs6700245 rs4393101 rs4320729 rs12082295 rs35446243 rs36077733 rs16829083 rs12145360 rs16829071 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VTT5-1; Sequence=Displayed; Name=2; IsoId=Q5VTT5-2; Sequence=VSP_030544, VSP_030545; Name=3; IsoId=Q5VTT5-3; Sequence=VSP_030542, VSP_030543; 


uniprotID: O14974
geneSymbol: PPP1R12A
reactome: R-HSA-2565942;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
pdb: 2KJY;5HUZ;
length: 1030
go: ENSG00000058272;
snps: rs12582646 rs2596781 rs12820960
name:
Protein phosphatase 1 regulatory subunit 12A (Myosin phosphatase-targeting subunit 1) (Myosin phosphatase target subunit 1) (Protein phosphatase myosin-binding subunit)

sequence:

opentargets:
A band [GO:0031672]; actin cytoskeleton [GO:0015629]; centrosome [GO:0005813]; contractile fiber [GO:0043292]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; kinetochore [GO:0000776]; nucleoplasm [GO:0005654]; PTW/PP1 phosphatase complex [GO:0072357]; Z disc [GO:0030018]; 14-3-3 protein binding [GO:0071889]; enzyme inhibitor activity [GO:0004857]; phosphatase regulator activity [GO:0019208]; protein kinase binding [GO:0019901]; cellular response to drug [GO:0035690]; centrosome cycle [GO:0007098]; mitotic cell cycle [GO:0000278]; negative regulation of catalytic activity [GO:0043086]; positive regulation of myosin-light-chain-phosphatase activity [GO:0035508]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein dephosphorylation [GO:0006470]; regulation of cell adhesion [GO:0030155]; regulation of myosin-light-chain-phosphatase activity [GO:0035507]; regulation of nucleocytoplasmic transport [GO:0046822]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O14974-1; Sequence=Displayed; Name=2; Synonyms=Myosin phosphatase target subunit 1 variant; IsoId=O14974-2; Sequence=VSP_009253; Note=No experimental confirmation available.; Name=3; Synonyms=Myosin phosphatase target subunit 1 variant 2; IsoId=O14974-3; Sequence=VSP_009251; Name=4; IsoId=O14974-4; Sequence=VSP_009252; Note=No experimental confirmation available.; Name=5; IsoId=O14974-5; Sequence=VSP_045079; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12923170, ECO:0000269|PubMed:18477460}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:12923170}. Note=Also along actomyosin filaments. {ECO:0000269|PubMed:12923170}.


uniprotID: O00255
geneSymbol: MEN1
reactome: R-HSA-201722;R-HSA-2173796;R-HSA-3769402;R-HSA-381426;R-HSA-5626467;R-HSA-8957275;
name: Menin
length: 615
go: ENSG00000133895;
pdb:
3U84;3U85;3U86;3U88;4GPQ;4GQ3;4GQ4;4GQ6;4I80;4OG3;4OG4;4OG5;4OG6;4OG7;4OG8;4X5Y;4X5Z;5DB0;5DB1;5DB2;5DB3;5DD9;5DDA;5DDB;5DDC;5DDD;5DDE;5DDF;6B41;

sequence:

opentargets:
chromatin [GO:0000785]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; histone methyltransferase complex [GO:0035097]; nuclear chromatin [GO:0000790]; nuclear chromosome, telomeric region [GO:0000784]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; double-stranded DNA binding [GO:0003690]; four-way junction DNA binding [GO:0000400]; protein binding, bridging [GO:0030674]; protein N-terminus binding [GO:0047485]; R-SMAD binding [GO:0070412]; transcription regulatory region DNA binding [GO:0044212]; Y-form DNA binding [GO:0000403]; beta-catenin-TCF complex assembly [GO:1904837]; brain development [GO:0007420]; cellular protein metabolic process [GO:0044267]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to glucose stimulus [GO:0071333]; cellular response to peptide hormone stimulus [GO:0071375]; decidualization [GO:0046697]; DNA repair [GO:0006281]; histone lysine methylation [GO:0034968]; MAPK cascade [GO:0000165]; mitotic cell cycle [GO:0000278]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell cycle G1/S phase transition [GO:1902807]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of JNK cascade [GO:0046329]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of telomerase activity [GO:0051974]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoblast development [GO:0002076]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; post-translational protein modification [GO:0043687]; regulation of activin receptor signaling pathway [GO:0032925]; regulation of type B pancreatic cell proliferation [GO:0061469]; response to gamma radiation [GO:0010332]; response to transforming growth factor beta [GO:0071559]; response to UV [GO:0009411]; type B pancreatic cell differentiation [GO:0003309]

snps:
rs794728614 rs104894256 rs28931612 rs1114167491 rs1389398299 rs104894263 rs1114167515 rs1114167543 rs386134256 rs607969 rs1114167494 rs376872829 rs1064793167 rs794728649 rs104894262 rs794728621 rs886039415 rs1057521110 rs794728624 rs104894268 rs1060499973 rs1114167493 rs1114167495 rs1114167469 rs2071312 rs387906552 rs1298484645 rs104894264 rs104894264 rs386134249 rs1114167528 rs398124435 rs104894259 rs745404679 rs2959656 rs1387157979 rs121913035 rs863224527 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O00255-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O00255-2; Sequence=VSP_004323; Name=3; IsoId=O00255-3; Sequence=VSP_004323, VSP_015854; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12874027}. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.


uniprotID: Q14680
geneSymbol: MELK
length: 651
go: ENSG00000165304;
snps: rs35233455 rs35142210 rs34655121 rs55845414 rs144052967
pdb:
4BKY;4BKZ;4BL1;4D2P;4D2T;4D2V;4D2W;4IXP;4UMP;4UMQ;4UMR;4UMT;4UMU;5IH8;5IH9;5IHA;5IHC;5K00;5M5A;5MAF;5MAG;5MAH;5MAI;5TVT;5TWL;5TWU;5TWY;5TWZ;5TX3;

name:
Maternal embryonic leucine zipper kinase (hMELK) (EC 2.7.11.1) (Protein kinase Eg3) (pEg3 kinase) (Protein kinase PK38) (hPK38) (Tyrosine-protein kinase MELK) (EC 2.7.10.2)

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; lipid binding [GO:0008289]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; G2/M transition of mitotic cell cycle [GO:0000086]; hemopoiesis [GO:0030097]; intracellular signal transduction [GO:0035556]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; neural precursor cell proliferation [GO:0061351]; positive regulation of apoptotic process [GO:0043065]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q14680-1; Sequence=Displayed; Name=2; IsoId=Q14680-2; Sequence=VSP_044715; Note=No experimental confirmation available.; Name=3; IsoId=Q14680-3; Sequence=VSP_045208; Name=4; IsoId=Q14680-4; Sequence=VSP_045209; Name=5; IsoId=Q14680-5; Sequence=VSP_045430; Name=6; IsoId=Q14680-6; Sequence=VSP_045431; Name=7; IsoId=Q14680-7; Sequence=VSP_046760; Note=No experimental confirmation available.; Name=8; IsoId=Q14680-8; Sequence=VSP_046759; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16159311, ECO:0000269|PubMed:21145462}; Peripheral membrane protein {ECO:0000269|PubMed:16159311, ECO:0000269|PubMed:21145462}.


uniprotID: Q9BQA1
geneSymbol: WDR77
reactome: R-HSA-191859;R-HSA-3214858;
pdb: 4GQB;4X60;4X61;4X63;5C9Z;5EMJ;5EMK;5EML;5EMM;5FA5;6CKC;
length: 342
go: ENSG00000116455;
snps: rs7416672
name:
Methylosome protein 50 (MEP-50) (Androgen receptor cofactor p44) (WD repeat-containing protein 77) (p44/Mep50)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; methyl-CpG binding [GO:0008327]; nuclear receptor transcription coactivator activity [GO:0030374]; protein-arginine N-methyltransferase activity [GO:0016274]; negative regulation of epithelial cell proliferation involved in prostate gland development [GO:0060770]; positive regulation of cell proliferation [GO:0008284]; regulation of transcription by RNA polymerase II [GO:0006357]; secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development [GO:0060528]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQA1-1; Sequence=Displayed; Name=2; IsoId=Q9BQA1-2; Sequence=VSP_056166; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17437848, ECO:0000269|PubMed:21081503}. Cytoplasm {ECO:0000269|PubMed:17437848, ECO:0000269|PubMed:21081503}. Note=Nuclear in Leydig cells and cytoplasmic in germ cells during fetal testicular development. In adult testis, predominantly nuclear. Subcellular location varies from nuclear to cytoplasmic in various tumors (PubMed:17437848). {ECO:0000269|PubMed:17437848}.


uniprotID: Q12866
geneSymbol: MERTK
reactome: R-HSA-202733;
pdb: 2DBJ;2P0C;3BPR;3BRB;3TCP;4M3Q;4MH7;4MHA;5K0K;5K0X;5TC0;5TD2;5U6C;
name: Tyrosine-protein kinase Mer (EC 2.7.10.1) (Proto-oncogene c-Mer) (Receptor tyrosine kinase MerTK)
length: 999
go: ENSG00000153208;
drug: DB08325;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; rhabdomere [GO:0016028]; ATP binding [GO:0005524]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; Wnt-protein binding [GO:0017147]; apoptotic cell clearance [GO:0043277]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; leukocyte migration [GO:0050900]; natural killer cell differentiation [GO:0001779]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cytokine production [GO:0001818]; negative regulation of leukocyte apoptotic process [GO:2000107]; negative regulation of lymphocyte activation [GO:0051250]; negative regulation of signal transduction [GO:0009968]; neutrophil clearance [GO:0097350]; phagocytosis [GO:0006909]; platelet activation [GO:0030168]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of phagocytosis [GO:0050766]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; retina development in camera-type eye [GO:0060041]; secretion by cell [GO:0032940]; spermatogenesis [GO:0007283]; substrate adhesion-dependent cell spreading [GO:0034446]; vagina development [GO:0060068]; Wnt signaling pathway [GO:0016055]

snps:
rs35898499 rs13027171 rs56205303 rs1475870132 rs7588635 rs766215580 rs34072093 rs34943572 rs34010621 rs7604639 rs35858762 rs2230515 rs113485015 rs56209758 rs55924349 rs2230516 rs2230517 rs377341255 rs201460398 


uniprotID: Q9BRJ9
geneSymbol: MESP1
name: Mesoderm posterior protein 1 (Class C basic helix-loop-helix protein 5) (bHLHc5)
length: 268
go: ENSG00000166823;
snps: rs6496598
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer binding [GO:0035326]; protein dimerization activity [GO:0046983]; 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 regulatory region DNA binding [GO:0044212]; cardiac atrium formation [GO:0003210]; cardiac cell fate determination [GO:0060913]; cardiac muscle cell differentiation [GO:0055007]; cardiac vascular smooth muscle cell differentiation [GO:0060947]; cardiac ventricle formation [GO:0003211]; cardioblast anterior-lateral migration [GO:0003259]; cardioblast migration to the midline involved in heart field formation [GO:0060975]; embryonic heart tube morphogenesis [GO:0003143]; endothelial cell differentiation [GO:0045446]; gastrulation [GO:0007369]; growth involved in heart morphogenesis [GO:0003241]; heart looping [GO:0001947]; heart morphogenesis [GO:0003007]; lateral mesoderm development [GO:0048368]; mesodermal cell migration [GO:0008078]; negative regulation of endodermal cell fate specification [GO:0042664]; negative regulation of mesodermal cell fate specification [GO:0042662]; negative regulation of transcription, DNA-templated [GO:0045892]; neurogenesis [GO:0022008]; Notch signaling pathway [GO:0007219]; positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway [GO:0090082]; positive regulation of hepatocyte differentiation [GO:0070368]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of Notch signaling pathway involved in heart induction [GO:0035481]; positive regulation of striated muscle cell differentiation [GO:0051155]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; secondary heart field specification [GO:0003139]; signal transduction involved in regulation of gene expression [GO:0023019]; sinoatrial node cell differentiation [GO:0060921]; sinus venosus morphogenesis [GO:0003236]; somitogenesis [GO:0001756]


uniprotID: Q0VG99
geneSymbol: MESP2
name: Mesoderm posterior protein 2 (Class C basic helix-loop-helix protein 6) (bHLHc6)
length: 397
go: ENSG00000188095;
snps: rs71647809 rs71647806 rs28462216 rs71647807
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; heart morphogenesis [GO:0003007]; Notch signaling pathway [GO:0007219]; somitogenesis [GO:0001756]


uniprotID: Q86W50
geneSymbol: METTL16
pdb: 2H00;6B91;6B92;6DU4;6DU5;6GFK;6GFN;6GT5;
length: 562
go: ENSG00000127804;
snps: rs17834783
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27872311}.
name:
U6 small nuclear RNA (adenine-(43)-N(6))-methyltransferase (EC 2.1.1.346) (Methyltransferase 10 domain-containing protein) (Methyltransferase-like protein 16) (N6-adenosine-methyltransferase METTL16) (EC 2.1.1.62)

sequence:

opentargets:
nucleus [GO:0005634]; 23S rRNA (adenine(1618)-N(6))-methyltransferase activity [GO:0052907]; mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity [GO:0016422]; RNA binding [GO:0003723]; RNA stem-loop binding [GO:0035613]; U6 snRNA (adenine-(43)-N(6))-methyltransferase activity [GO:0120048]; U6 snRNA 3'-end binding [GO:0030629]; mRNA catabolic process [GO:0006402]; mRNA destabilization [GO:0061157]; posttranscriptional regulation of gene expression [GO:0010608]; regulation of mRNA splicing, via spliceosome [GO:0048024]; rRNA base methylation [GO:0070475]; snRNA (adenine-N6)-methylation [GO:0120049]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86W50-1; Sequence=Displayed; Name=2; IsoId=Q86W50-2; Sequence=VSP_029340, VSP_029341; Note=No experimental confirmation available.; 


uniprotID: Q14764
geneSymbol: MVP
reactome: R-HSA-6798695;
pdb: 1Y7X;
name: Major vault protein (MVP) (Lung resistance-related protein)
length: 893
go: ENSG00000013364;
snps: rs35916172 rs3764944
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nuclear pore [GO:0005643]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; secretory granule lumen [GO:0034774]; identical protein binding [GO:0042802]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; ERBB signaling pathway [GO:0038127]; mRNA transport [GO:0051028]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of protein tyrosine kinase activity [GO:0061099]; negative regulation of signaling [GO:0023057]; neutrophil degranulation [GO:0043312]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15133037, ECO:0000269|PubMed:16441665}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:16441665}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16441665}. Note=5% found in the nuclear pore complex (PubMed:15133037). Translocates from the nucleus to the cytoplasm upon EGF treatment (PubMed:16441665).


uniprotID: Q9NR99
geneSymbol: MXRA5
length: 2828
go: ENSG00000101825;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:27599751}.
name:
Matrix-remodeling-associated protein 5 (Adhesion protein with leucine-rich repeats and immunoglobulin domains related to perlecan) (Adlican)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix structural constituent [GO:0005201]; response to transforming growth factor beta [GO:0071559]

snps:
rs5983120 rs5983119 rs1635246 rs139106444 rs1726199 rs12396910 rs1974522 rs1635242 rs776590689 rs369042203 rs148675322 rs1726208 rs143264543 rs1419255508 


uniprotID: P84157
geneSymbol: MXRA7
name: Matrix-remodeling-associated protein 7
length: 204
go: ENSG00000182534;
opentargets: collagen-containing extracellular matrix [GO:0062023]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P84157-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P84157-2; Sequence=VSP_022589, VSP_022590; Note=No experimental confirmation available.; Name=3; IsoId=P84157-3; Sequence=VSP_024252; Note=No experimental confirmation available.; 


uniprotID: Q96S97
geneSymbol: MYADM
name: Myeloid-associated differentiation marker (Protein SB135)
length: 322
go: ENSG00000179820;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cell-cell junction [GO:0005911]; cortical actin cytoskeleton [GO:0030864]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; establishment of endothelial barrier [GO:0061028]; membrane raft organization [GO:0031579]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of gene expression [GO:0010629]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of protein kinase C signaling [GO:0090038]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of cell migration [GO:0030335]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; protein localization to plasma membrane [GO:0072659]


uniprotID: A1L020
geneSymbol: MEX3A
name: RNA-binding protein MEX3A (RING finger and KH domain-containing protein 4)
length: 520
go: ENSG00000254726;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17267406}. Nucleus {ECO:0000269|PubMed:17267406}. Cytoplasm, P-body {ECO:0000269|PubMed:17267406}. Note=Predominantly expressed in the cytoplasm and shuttles between the cytoplasm and the nucleus through the CRM1 export pathway.


uniprotID: Q5U5Q3
geneSymbol: MEX3C
reactome: R-HSA-983168;
pdb: 5WWW;5WWX;5WWZ;
length: 659
go: ENSG00000176624;
snps: rs12970605
name:
RNA-binding E3 ubiquitin-protein ligase MEX3C (EC 2.3.2.27) (RING finger and KH domain-containing protein 2) (RING finger protein 194) (RING-type E3 ubiquitin transferase MEX3C)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; transferase activity [GO:0016740]; chondrocyte hypertrophy [GO:0003415]; energy homeostasis [GO:0097009]; regulation of fat cell differentiation [GO:0045598]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17267406}. Nucleus {ECO:0000269|PubMed:17267406}. Note=Predominantly expressed in the cytoplasm and shuttles between the cytoplasm and the nucleus through the CRM1 export pathway. May act as suppressor of replication stress and chromosome missegregation.


uniprotID: P55081
geneSymbol: MFAP1
reactome: R-HSA-2129379;
pdb: 5F5S;5O9Z;
name: Microfibrillar-associated protein 1 (Spliceosome B complex protein MFAP1)
length: 439
go: ENSG00000140259;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28781166}.
sequence:

opentargets:
extracellular region [GO:0005576]; microfibril [GO:0001527]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: P55001
geneSymbol: MFAP2
reactome: R-HSA-1566948;R-HSA-2129379;
length: 183
go: ENSG00000117122;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
name:
Microfibrillar-associated protein 2 (MFAP-2) (Microfibril-associated glycoprotein 1) (MAGP) (MAGP-1)

sequence:
MRAAYLFLLFLPAGLLAQGQYDLDPLPPFPDHVQYTHYSDQIDNPDYYDYQEVTPRPSEEQFQFQSQQQVQQEVIPAPTPEPGNAELEPTEPGPLDCREEQYPCTRLYSIHRPCKQCLNEVCFYSLRRVYVINKEICVRTVCAHEELLRADLCRDKFSKCGVMASSGLCQSVAASCARSCGSC

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; microfibril [GO:0001527]; extracellular matrix structural constituent [GO:0005201]; embryonic eye morphogenesis [GO:0048048]; extracellular matrix organization [GO:0030198]; positive regulation of cold-induced thermogenesis [GO:0120162]; post-embryonic eye morphogenesis [GO:0048050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=P55001-1; Sequence=Displayed; Name=A'; IsoId=P55001-2; Sequence=VSP_042780; Name=B; IsoId=P55001-3; Sequence=VSP_042779; 


uniprotID: Q14CX5
geneSymbol: MFSD13A
name: Transmembrane protein 180 (Major facilitator superfamily domain-containing 13A)
length: 517
go: ENSG00000138111;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P55083
geneSymbol: MFAP4
reactome: R-HSA-2129379;
name: Microfibril-associated glycoprotein 4
length: 255
go: ENSG00000166482;
snps: rs17855749
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; elastic fiber [GO:0071953]; extracellular region [GO:0005576]; microfibril [GO:0001527]; extracellular matrix structural constituent [GO:0005201]; cell adhesion [GO:0007155]; cellular response to UV-B [GO:0071493]; elastic fiber assembly [GO:0048251]; regulation of collagen metabolic process [GO:0010712]; supramolecular fiber organization [GO:0097435]; UV protection [GO:0009650]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55083-1; Sequence=Displayed; Name=2; IsoId=P55083-2; Sequence=VSP_045831; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:26601954}.


uniprotID: Q08431
geneSymbol: MFGE8
reactome: R-HSA-381426;R-HSA-8957275;R-HSA-977225;
length: 387
go: ENSG00000140545;
snps: rs4945 rs1878326
name:
Lactadherin (Breast epithelial antigen BA46) (HMFG) (MFGM) (Milk fat globule-EGF factor 8) (MFG-E8) (SED1) [Cleaved into: Lactadherin short form; Medin]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; extrinsic component of plasma membrane [GO:0019897]; membrane [GO:0016020]; extracellular matrix structural constituent [GO:0005201]; integrin binding [GO:0005178]; phosphatidylethanolamine binding [GO:0008429]; phosphatidylserine binding [GO:0001786]; angiogenesis [GO:0001525]; apoptotic cell clearance [GO:0043277]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of phagocytosis [GO:0050766]; post-translational protein modification [GO:0043687]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q08431-1; Sequence=Displayed; Name=2; IsoId=Q08431-2; Sequence=VSP_039108; Note=It is unsure whether Met-1 or an upstream Met is the initiator as the upstream Met corresponds to polymorphism rs1879326. {ECO:0000305}; Name=3; IsoId=Q08431-3; Sequence=VSP_039953; Name=4; IsoId=Q08431-4; Sequence=VSP_059818; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:19204935}; Peripheral membrane protein {ECO:0000269|PubMed:19204935}. Secreted {ECO:0000269|PubMed:19204935}.


uniprotID: O95140
geneSymbol: MFN2
reactome: R-HSA-5205685;R-HSA-983231;
name: Mitofusin-2 (EC 3.6.5.-) (Transmembrane GTPase MFN2)
length: 757
go: ENSG00000116688;
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; intrinsic component of mitochondrial outer membrane [GO:0031306]; microtubule cytoskeleton [GO:0015630]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; ubiquitin protein ligase binding [GO:0031625]; apoptotic process [GO:0006915]; blastocyst formation [GO:0001825]; blood coagulation [GO:0007596]; camera-type eye morphogenesis [GO:0048593]; macroautophagy [GO:0016236]; mitochondrial fusion [GO:0008053]; mitochondrial membrane organization [GO:0007006]; mitochondrion localization [GO:0051646]; negative regulation of Ras protein signal transduction [GO:0046580]; negative regulation of smooth muscle cell proliferation [GO:0048662]; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization [GO:0061734]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of vascular associated smooth muscle cell apoptotic process [GO:1905461]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein localization to phagophore assembly site [GO:0034497]; protein targeting to mitochondrion [GO:0006626]; response to unfolded protein [GO:0006986]

snps:
rs28940296 rs28940293 rs28940291 rs119103263 rs119103266 rs387906990 rs28940295 rs755065651 rs119103264 rs28940294 rs119103261 rs387906991 rs119103265 rs138382758 rs376925978 rs142271930 rs119103267 rs144860227 rs28940292 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95140-1; Sequence=Displayed; Name=2; IsoId=O95140-2; Sequence=VSP_015159, VSP_015160, VSP_015161; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:11181170, ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12499352, ECO:0000269|PubMed:23620051}; Multi-pass membrane protein {ECO:0000269|PubMed:11181170, ECO:0000269|PubMed:11950885, ECO:0000269|PubMed:12499352, ECO:0000269|PubMed:23620051}. Note=Colocalizes with BAX during apoptosis. {ECO:0000269|PubMed:12499352}.


uniprotID: Q9H019
geneSymbol: MTFR1L
name: Mitochondrial fission regulator 1-like
length: 292
go: ENSG00000117640;
opentargets: mitochondrion [GO:0005739]; aerobic respiration [GO:0009060]; mitochondrial fission [GO:0000266]
snps: rs35448678
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H019-1; Sequence=Displayed; Name=2; IsoId=Q9H019-2; Sequence=VSP_034338; Name=3; IsoId=Q9H019-3; Sequence=VSP_034339; Note=No experimental confirmation available.; 


uniprotID: Q5TF39
geneSymbol: MFSD4B
reactome: R-HSA-189200;
name: Sodium-dependent glucose transporter 1 (Major facilitator superfamily domain-containing protein 4B)
length: 518
go: ENSG00000173214;
snps: rs17853558
sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; glucose transmembrane transporter activity [GO:0005355]; symporter activity [GO:0015293]; sodium ion transport [GO:0006814]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q80T22}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q8NBP5
geneSymbol: MFSD9
name: Major facilitator superfamily domain-containing protein 9
length: 474
go: ENSG00000135953;
snps: rs7601509 rs33993717 rs34096572
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; transporter activity [GO:0005215]; transmembrane transport [GO:0055085]


uniprotID: Q9NYZ2
geneSymbol: SLC25A37
reactome: R-HSA-1362409;
length: 338
go: ENSG00000147454;
snps: rs2942194 rs3736032
name:
Mitoferrin-1 (Mitochondrial iron transporter 1) (Mitochondrial solute carrier protein) (Solute carrier family 25 member 37)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; iron ion transmembrane transporter activity [GO:0005381]; iron import into the mitochondrion [GO:0048250]; iron ion homeostasis [GO:0055072]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYZ2-1; Sequence=Displayed; Name=2; IsoId=Q9NYZ2-2; Sequence=VSP_018402, VSP_018403; Name=4; IsoId=Q9NYZ2-4; Sequence=VSP_018400; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q96A46
geneSymbol: SLC25A28
reactome: R-HSA-1362409;
length: 364
go: ENSG00000155287;
name:
Mitoferrin-2 (Mitochondrial RNA-splicing protein 3/4 homolog) (MRS3/4) (hMRS3/4) (Mitochondrial iron transporter 2) (Solute carrier family 25 member 28)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; iron ion transmembrane transporter activity [GO:0005381]; iron import into the mitochondrion [GO:0048250]; iron ion homeostasis [GO:0055072]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96A46-1; Sequence=Displayed; Name=2; IsoId=Q96A46-2; Sequence=VSP_018414; Name=3; IsoId=Q96A46-3; Sequence=VSP_018413, VSP_018415; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11297739}; Multi-pass membrane protein {ECO:0000269|PubMed:11297739}. Note=Isoform 1 and isoform 2 are both localized in the mitochondrion.


uniprotID: Q9H2D1
geneSymbol: SLC25A32
reactome: R-HSA-196757;
name: Mitochondrial folate transporter/carrier (Solute carrier family 25 member 32)
length: 315
go: ENSG00000164933;
drug: DB00158;
snps: rs17803441 rs142329098
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; FAD transmembrane transporter activity [GO:0015230]; folic acid transmembrane transporter activity [GO:0008517]; folate import into mitochondrion [GO:1904947]; folic acid metabolic process [GO:0046655]; folic acid transport [GO:0015884]; glycine metabolic process [GO:0006544]


uniprotID: O43451
geneSymbol: MGAM
reactome: R-HSA-189085;R-HSA-6798695;
pdb: 2QLY;2QMJ;3CTT;3L4T;3L4U;3L4V;3L4W;3L4X;3L4Y;3L4Z;3TON;3TOP;
length: 1857
go: ENSG00000257335;
drug: DB00284;DB00491;DB04878;
snps: rs2272330 rs10266732 rs2960746 rs9655651
name:
Maltase-glucoamylase, intestinal [Includes: Maltase (EC 3.2.1.20) (Alpha-glucosidase); Glucoamylase (EC 3.2.1.3) (Glucan 1,4-alpha-glucosidase)]

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; alpha-1,4-glucosidase activity [GO:0004558]; amylase activity [GO:0016160]; carbohydrate binding [GO:0030246]; catalytic activity [GO:0003824]; glucan 1,4-alpha-glucosidase activity [GO:0004339]; maltose alpha-glucosidase activity [GO:0032450]; neutrophil degranulation [GO:0043312]; polysaccharide digestion [GO:0044245]; starch catabolic process [GO:0005983]

location:
SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type II membrane protein. Note=Brush border.


uniprotID: P08493
geneSymbol: MGP
name: Matrix Gla protein (MGP) (Cell growth-inhibiting gene 36 protein)
length: 103
go: ENSG00000111341;
snps: rs1801716 rs4236
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKSLILLAILAALAVVTLCYESHESMESYELNPFINRRNANTFISPQQRWRAKVQERIRERSKPVHELNREACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; structural constituent of bone [GO:0008147]; cartilage condensation [GO:0001502]; cell differentiation [GO:0030154]; ossification [GO:0001503]; regulation of bone mineralization [GO:0030500]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08493-1; Sequence=Displayed; Name=2; IsoId=P08493-2; Sequence=VSP_046999; Note=Gene prediction based on EST data.; 


uniprotID: Q86YV6
geneSymbol: MYLK4
pdb: 2X4F;
name: Myosin light chain kinase family member 4 (EC 2.7.11.1) (Sugen kinase 85) (SgK085)
length: 388
go: ENSG00000145949;
opentargets: ATP binding [GO:0005524]; myosin light chain kinase activity [GO:0004687]
snps: rs7770402 rs2296356 rs762093504 rs34953021 rs35609073 rs35211631
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YV6-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q86YV6-2; Sequence=VSP_026948; Note=Sequence incomplete. No experimental confirmation available.; 


uniprotID: Q9NPC7
geneSymbol: MYNN
pdb: 2VPK;
name: Myoneurin (Zinc finger and BTB domain-containing protein 31)
length: 610
go: ENSG00000085274;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14694499}.
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]; zinc ion binding [GO:0008270]; cellular response to leukemia inhibitory factor [GO:1990830]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NPC7-1; Sequence=Displayed; Name=2; IsoId=Q9NPC7-2; Sequence=VSP_020216; Name=3; IsoId=Q9NPC7-3; Sequence=VSP_020215, VSP_020217; Name=4; Synonyms=m4b; IsoId=Q9NPC7-4; Sequence=VSP_020213, VSP_020214; 


uniprotID: Q9UKN7
geneSymbol: MYO15A
name: Unconventional myosin-XV (Unconventional myosin-15)
length: 3530
go: ENSG00000091536;
snps: rs854777 rs2272571 rs121908966 rs121908965 rs121908970 rs16960959 rs712270 rs121908969
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; myosin complex [GO:0016459]; stereocilium [GO:0032420]; actin binding [GO:0003779]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; inner ear morphogenesis [GO:0042472]; locomotory behavior [GO:0007626]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKN7-1; Sequence=Displayed; Name=2; IsoId=Q9UKN7-2; Sequence=VSP_056655, VSP_056656; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, stereocilium {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Localizes to stereocilium tips in cochlear and vestibular hair cells. {ECO:0000250}.


uniprotID: Q96H55
geneSymbol: MYO19
name: Unconventional myosin-XIX (Myosin head domain-containing protein 1)
length: 970
go: ENSG00000278259;
snps: rs2306595 rs9890918 rs7217346
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; myosin complex [GO:0016459]; actin binding [GO:0003779]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; myosin light chain binding [GO:0032027]; plus-end directed microfilament motor activity [GO:0060002]; mitochondrion migration along actin filament [GO:0034642]; regulation of cytokinesis [GO:0032465]; regulation of mitochondrial fission [GO:0090140]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96H55-1; Sequence=Displayed; Name=2; IsoId=Q96H55-2; Sequence=VSP_033402, VSP_033403; Name=3; IsoId=Q96H55-3; Sequence=VSP_033405, VSP_033406; Name=4; IsoId=Q96H55-4; Sequence=VSP_033404; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:19932026, ECO:0000269|PubMed:23568824, ECO:0000269|PubMed:25447992, ECO:0000269|PubMed:26659663, ECO:0000269|PubMed:27126804}; Peripheral membrane protein {ECO:0000269|PubMed:27126804}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19932026}.


uniprotID: Q9UBC5
geneSymbol: MYO1A
name: Unconventional myosin-Ia (Brush border myosin I) (BBM-I) (BBMI) (Myosin I heavy chain) (MIHC)
length: 1043
go: ENSG00000166866;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; brush border [GO:0005903]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; filamentous actin [GO:0031941]; lateral plasma membrane [GO:0016328]; microvillus [GO:0005902]; myosin complex [GO:0016459]; plasma membrane raft [GO:0044853]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; microvillus assembly [GO:0030033]; sensory perception of sound [GO:0007605]; vesicle localization [GO:0051648]

snps:
rs55679042 rs61753849 rs4759043 rs12297756 rs2270738 rs33962952 rs148808080 rs113470661 rs121909306 rs17119344 


uniprotID: O94832
geneSymbol: MYO1D
name: Unconventional myosin-Id
length: 1006
go: ENSG00000176658;
snps: rs7209106 rs7215958
sequence:

opentargets:
apical dendrite [GO:0097440]; axolemma [GO:0030673]; axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; brush border [GO:0005903]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; myelin sheath [GO:0043209]; myosin complex [GO:0016459]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane raft [GO:0044853]; smooth endoplasmic reticulum [GO:0005790]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; calcium-dependent protein binding [GO:0048306]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; protein domain specific binding [GO:0019904]; cellular localization [GO:0051641]; early endosome to recycling endosome transport [GO:0061502]; forebrain development [GO:0030900]; negative regulation of phosphatase activity [GO:0010923]


uniprotID: Q8N1T3
geneSymbol: MYO1H
name: Unconventional myosin-Ih (Myosin-1H)
length: 1032
go: ENSG00000174527;
snps: rs11611277 rs34725387 rs3825393
sequence:

opentargets:
myosin complex [GO:0016459]; actin binding [GO:0003779]; ATP binding [GO:0005524]; motor activity [GO:0003774]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N1T3-1; Sequence=Displayed; Name=2; IsoId=Q8N1T3-2; Sequence=VSP_033497, VSP_033498, VSP_033499; Name=3; IsoId=Q8N1T3-3; Sequence=VSP_053792; Note=May be due to intron retention.; 


uniprotID: P10620
geneSymbol: MGST1
reactome: R-HSA-156590;R-HSA-5423646;R-HSA-6798695;
name: Microsomal glutathione S-transferase 1 (Microsomal GST-1) (EC 2.5.1.18) (Microsomal GST-I)
length: 155
go: ENSG00000008394;
drug: DB00143;
sequence:
MVDLTQVMDDEVFMAFASYATIILSKMMLMSTATAFYRLTRKVFANPEDCVAFGKGENAKKYLRTDDRVERVRRAHLNDLENIIPFLGIGLLYSLSGPDPSTAILHFRLFVGARIYHTIAYLTPLPQPNRALSFFVGYGVTLSMAYRLLKSKLYL

opentargets:
apical part of cell [GO:0045177]; azurophil granule membrane [GO:0035577]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; peroxisomal membrane [GO:0005778]; plasma membrane [GO:0005886]; glutathione binding [GO:0043295]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; protein homodimerization activity [GO:0042803]; cellular response to lipid hydroperoxide [GO:0071449]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; Leydig cell differentiation [GO:0033327]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]; protein homotrimerization [GO:0070207]; response to drug [GO:0042493]; response to lipopolysaccharide [GO:0032496]; response to organonitrogen compound [GO:0010243]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10620-1; Sequence=Displayed; Name=2; IsoId=P10620-2; Sequence=VSP_046160; Note=No experimental confirmation available.; 

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


uniprotID: Q99735
geneSymbol: MGST2
reactome: R-HSA-156590;R-HSA-5423646;
name: Microsomal glutathione S-transferase 2 (Microsomal GST-2) (EC 2.5.1.18) (Microsomal GST-II)
length: 147
go: ENSG00000085871;
drug: DB01008;DB00143;
snps: rs8192111
sequence:
MAGNSILLAAVSILSACQQSYFALQVGKARLKYKVTPPAVTGSPEFERVFRAQQNCVEFYPIFIITLWMAGWYFNQVFATCLGLVYIYGRHLYFWGYSEAAKKRITGFRLSLGILALLTLLGALGIANSFLDEYLDLNIAKKLRRQF

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; organelle membrane [GO:0031090]; plasma membrane [GO:0005886]; enzyme activator activity [GO:0008047]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; leukotriene-C4 synthase activity [GO:0004464]; glutathione biosynthetic process [GO:0006750]; glutathione derivative biosynthetic process [GO:1901687]; leukotriene biosynthetic process [GO:0019370]; lipid metabolic process [GO:0006629]; membrane lipid catabolic process [GO:0046466]; positive regulation of inflammatory response [GO:0050729]; response to lipopolysaccharide [GO:0032496]; response to organonitrogen compound [GO:0010243]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99735-1; Sequence=Displayed; Name=2; IsoId=Q99735-2; Sequence=VSP_044538; Note=No experimental confirmation available.; 

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


uniprotID: Q9UM21
geneSymbol: MGAT4A
reactome: R-HSA-381426;R-HSA-8957275;R-HSA-975577;
length: 535
go: ENSG00000071073;
name:
Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A (EC 2.4.1.145) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa) (GlcNAc-T IVa) (GnT-IVa) (N-acetylglucosaminyltransferase IVa) (UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa) [Cleaved into: Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity [GO:0008454]; metal ion binding [GO:0046872]; cellular protein metabolic process [GO:0044267]; N-glycan processing [GO:0006491]; post-translational protein modification [GO:0043687]; protein N-linked glycosylation [GO:0006487]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UM21-1; Sequence=Displayed; Name=2; IsoId=Q9UM21-2; Sequence=VSP_046075, VSP_046076, VSP_046077; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A: Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form: Secreted {ECO:0000250}.


uniprotID: Q09328
geneSymbol: MGAT5
reactome: R-HSA-975577;
pdb: 5ZIB;5ZIC;
length: 741
go: ENSG00000152127;
name:
Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A (EC 2.4.1.155) (Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase V) (GlcNAc-T V) (GNT-V) (Mannoside acetylglucosaminyltransferase 5) (N-acetylglucosaminyl-transferase V) [Cleaved into: Secreted alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A (Secreted beta-1,6-N-acetylglucosaminyltransferase V) (Secreted GNT-V)]

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity [GO:0030144]; protein phosphatase inhibitor activity [GO:0004864]; negative regulation of protein tyrosine phosphatase activity [GO:1903614]; positive regulation of cell migration [GO:0030335]; positive regulation of STAT cascade [GO:1904894]; protein N-linked glycosylation [GO:0006487]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:P97259}; Single-pass type II membrane protein {ECO:0000269|PubMed:17142794}.; SUBCELLULAR LOCATION: Secreted alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A: Secreted {ECO:0000269|PubMed:17142794}.


uniprotID: Q9UBM8
geneSymbol: MGAT4C
reactome: R-HSA-975577;
length: 478
go: ENSG00000182050;
snps: rs17855890
name:
Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C (EC 2.4.1.145) (N-acetylglucosaminyltransferase IV homolog) (hGnT-IV-H) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc) (GlcNAc-T IVc) (GnT-IVc) (N-acetylglucosaminyltransferase IVc) (UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVc)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity [GO:0008454]; metal ion binding [GO:0046872]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBM8-1; Sequence=Displayed; Name=2; IsoId=Q9UBM8-2; Sequence=VSP_056096; Note=No experimental confirmation available.; 

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


uniprotID: Q9UM54
geneSymbol: MYO6
reactome: R-HSA-190873;R-HSA-399719;
pdb: 2N0Z;2N10;2N11;2N12;2N13;
name: Unconventional myosin-VI (Unconventional myosin-6)
length: 1294
go: ENSG00000196586;
snps: rs121912559 rs121912560
sequence:

opentargets:
actin filament [GO:0005884]; apical part of cell [GO:0045177]; cell cortex [GO:0005938]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; Golgi apparatus [GO:0005794]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; microvillus [GO:0005902]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; RNA polymerase II, holoenzyme [GO:0016591]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; unconventional myosin complex [GO:0016461]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; identical protein binding [GO:0042802]; minus-end directed microfilament motor activity [GO:0060001]; motor activity [GO:0003774]; actin filament-based movement [GO:0030048]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; endocytosis [GO:0006897]; intracellular protein transport [GO:0006886]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of secretion [GO:0051046]; response to drug [GO:0042493]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=3; IsoId=Q9UM54-3; Sequence=Displayed; Name=1; IsoId=Q9UM54-1; Sequence=VSP_022332; Name=2; IsoId=Q9UM54-2; Sequence=VSP_007985; Name=4; IsoId=Q9UM54-4; Sequence=VSP_022333; Name=5; IsoId=Q9UM54-5; Sequence=VSP_007985, VSP_022333; Name=6; IsoId=Q9UM54-6; Sequence=VSP_042208; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus {ECO:0000250}. Nucleus. Cytoplasm, perinuclear region. Membrane, clathrin-coated pit. Cell projection, ruffle membrane; Peripheral membrane protein. Note=Also present in endocyctic vesicles, and membrane ruffles. Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through induction by p53 and p53-induced DNA damage. Recruited into membrane ruffles from cell surface by EGF-stimulation. Colocalizes with DAB2 in clathrin-coated pits/vesicles. Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasmic vesicle, clathrin-coated vesicle membrane.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell projection, ruffle membrane.


uniprotID: Q13402
geneSymbol: MYO7A
reactome: R-HSA-2453902;
pdb: 5MV9;
name: Unconventional myosin-VIIa
length: 2215
go: ENSG00000137474;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; microvillus [GO:0005902]; myosin VII complex [GO:0031477]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; stereocilium [GO:0032420]; synapse [GO:0045202]; upper tip-link density [GO:1990435]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; spectrin binding [GO:0030507]; actin filament-based movement [GO:0030048]; auditory receptor cell stereocilium organization [GO:0060088]; equilibrioception [GO:0050957]; eye photoreceptor cell development [GO:0042462]; intracellular protein transport [GO:0006886]; lysosome organization [GO:0007040]; phagolysosome assembly [GO:0001845]; pigment granule transport [GO:0051904]; post-embryonic animal organ morphogenesis [GO:0048563]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

snps:
rs1052030 rs782252317 rs369125667 rs111033181 rs1472566324 rs111033174 rs1188616455 rs781946292 rs121965080 rs28934610 rs111033283 rs782166819 rs121965081 rs41298135 rs1269622956 rs111033286 rs121965084 rs111033206 rs121965082 rs2276282 rs876657416 rs35641839 rs782174733 rs368341987 rs1296612982 rs781988557 rs111033233 rs375050157 rs111033214 rs111033178 rs749747871 rs373169422 rs763469001 rs41298747 rs139889944 rs2276288 rs77625410 rs12275336 rs111033287 rs377267777 rs368657015 rs397516321 rs111033215 rs199606180 rs948962 rs771906493 rs1132036 rs747656448 rs397516332 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13402-1; Sequence=Displayed; Name=2; IsoId=Q13402-2; Sequence=VSP_003360, VSP_045848; Name=3; IsoId=Q13402-3; Sequence=VSP_003356, VSP_003357; Name=4; IsoId=Q13402-4; Sequence=VSP_003355, VSP_003356, VSP_003357; Name=5; IsoId=Q13402-5; Sequence=VSP_003353, VSP_003354; Name=6; IsoId=Q13402-6; Sequence=VSP_003358; Name=7; IsoId=Q13402-7; Sequence=VSP_003359; Name=8; IsoId=Q13402-8; Sequence=VSP_053793, VSP_003360; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P97479}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:P97479}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P97479}. Note=In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region (PubMed:8842737). In retinal pigment epithelial cells colocalizes with a subset of melanosomes, displays predominant localization to stress fiber-like structures and some localization to cytoplasmic puncta (PubMed:19643958, PubMed:27331610). Detected at the tip of cochlear hair cell stereocilia (PubMed:21709241). The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin (PubMed:21709241). {ECO:0000269|PubMed:19643958, ECO:0000269|PubMed:21709241, ECO:0000269|PubMed:27331610, ECO:0000269|PubMed:8842737}.


uniprotID: Q8N4Q1
geneSymbol: CHCHD4
reactome: R-HSA-1268020;
pdb: 2K3J;2L0Y;
length: 142
go: ENSG00000163528;
name:
Mitochondrial intermembrane space import and assembly protein 40 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 4)

sequence:
MSYCRQEGKDRIIFVTKEDHETPSSAELVADDPNDPYEEHGLILPNGNINWNCPCLGGMASGPCGEQFKSAFSCFHYSTEEIKGSDCVDQFRAMQECMQKYPDLYPQEDEDEEEEREKKPAEQAEETAPIEATATKEEEGSS

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; protein disulfide oxidoreductase activity [GO:0015035]; 'de novo' posttranslational protein folding [GO:0051084]; peptidyl-cysteine oxidation [GO:0018171]; protein import into mitochondrial intermembrane space [GO:0045041]; protein maturation by protein folding [GO:0022417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4Q1-1; Sequence=Displayed; Name=2; IsoId=Q8N4Q1-2; Sequence=VSP_018433; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:16185709, ECO:0000269|PubMed:23186364}. Mitochondrion {ECO:0000269|PubMed:23676665}.


uniprotID: Q9H1L0
geneSymbol: MIR1-1HG
name: Uncharacterized protein MIR1-1HG (MIR1-1 host gene protein)
length: 117
snps: rs6062251
sequence:
MPSCSCALMAPCGPAAGPAAVERTQQVARGEPGSARGQLQVSPEMSITHKEKENAHLKEILLFVNAEAFSQPQPHSAPVCEGQQLTGKFSTSVLTRAGGDASPCSWERLLCYGWSHC


uniprotID: P52179
geneSymbol: MYOM1
pdb: 2R15;2Y23;2Y25;3RBS;5FM4;5FM5;5FM8;
length: 1685
go: ENSG00000101605;
snps: rs1791085 rs1962519 rs2230165 rs8099021 rs9807556 rs1071600 rs3765623 rs16944397
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}.
name:
Myomesin-1 (190 kDa connectin-associated protein) (190 kDa titin-associated protein) (Myomesin family member 1)

sequence:

opentargets:
M band [GO:0031430]; sarcomere [GO:0030017]; striated muscle myosin thick filament [GO:0005863]; striated muscle thin filament [GO:0005865]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; muscle alpha-actinin binding [GO:0051371]; protein homodimerization activity [GO:0042803]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; extraocular skeletal muscle development [GO:0002074]; muscle contraction [GO:0006936]; positive regulation of gene expression [GO:0010628]; positive regulation of protein secretion [GO:0050714]; protein kinase A signaling [GO:0010737]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52179-1; Sequence=Displayed; Name=2; IsoId=P52179-2; Sequence=VSP_035663; 


uniprotID: P02689
geneSymbol: PMP2
pdb: 2WUT;3NR3;4A1H;4A1Y;4A8Z;4BVM;4D6A;4D6B;5N4M;5N4P;5N4Q;6EW2;6EW4;6EW5;
name: Myelin P2 protein (Peripheral myelin protein 2)
length: 132
go: ENSG00000147588;
drug: DB04147;DB04224;DB03796;DB01915;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MSNKFLGTWKLVSSENFDDYMKALGVGLATRKLGNLAKPTVIISKKGDIITIRTESTFKNTEISFKLGQEFEETTADNRKTKSIVTLQRGSLNQVQRWDGKETTIKRKLVNGKMVAECKMKGVVCTRIYEKV

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; myelin sheath [GO:0043209]; cholesterol binding [GO:0015485]; fatty acid binding [GO:0005504]; membrane organization [GO:0061024]


uniprotID: Q86TC9
geneSymbol: MYPN
name: Myopalladin (145 kDa sarcomeric protein)
length: 1320
go: ENSG00000138347;
sequence:

opentargets:
axon [GO:0030424]; I band [GO:0031674]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; Z disc [GO:0030018]; actin binding [GO:0003779]; cell-cell adhesion mediator activity [GO:0098632]; cytoskeletal protein binding [GO:0008092]; muscle alpha-actinin binding [GO:0051371]; SH3 domain binding [GO:0017124]; axon guidance [GO:0007411]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; sarcomere organization [GO:0045214]

snps:
rs140148105 rs199476401 rs199476402 rs199476403 rs199476404 rs11596653 rs199476406 rs74143030 rs199476409 rs143338091 rs10823148 rs10997975 rs181355189 rs7916821 rs3814182 rs62620248 rs199476410 rs199476411 rs199476413 rs199476414 rs149887823 rs864621995 rs71584501 rs71534278 rs7079481 rs138313730 rs71534280 rs199476416 rs199476417 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86TC9-1; Sequence=Displayed; Name=2; IsoId=Q86TC9-2; Sequence=VSP_019384, VSP_019385; Note=No experimental confirmation available.; Name=3; IsoId=Q86TC9-3; Sequence=VSP_019386, VSP_019387; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11309420}. Nucleus {ECO:0000269|PubMed:11309420}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:11309420}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11309420, ECO:0000269|PubMed:28017374}. Note=Bound to sarcomere both at the Z-line periphery and in the central I-band region. {ECO:0000269|PubMed:11309420}.


uniprotID: P60201
geneSymbol: PLP1
pdb: 2XPG;
name: Myelin proteolipid protein (PLP) (Lipophilin)
length: 277
go: ENSG00000123560;
sequence:

opentargets:
integral component of membrane [GO:0016021]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; structural constituent of myelin sheath [GO:0019911]; structural molecule activity [GO:0005198]; astrocyte development [GO:0014002]; axon development [GO:0061564]; axon ensheathment [GO:0008366]; central nervous system myelination [GO:0022010]; chemical synaptic transmission [GO:0007268]; glial cell differentiation [GO:0010001]; inflammatory response [GO:0006954]; integrin-mediated signaling pathway [GO:0007229]; long-chain fatty acid biosynthetic process [GO:0042759]; myelination [GO:0042552]; positive regulation of gene expression [GO:0010628]; substantia nigra development [GO:0021762]

snps:
rs11543022 rs1064794255 rs132630289 rs132630285 rs878853076 rs132630295 rs132630287 rs132630280 rs132630279 rs132630294 rs132630282 rs132630288 rs132630284 rs132630284 rs132630278 rs132630281 rs132630286 rs132630283 rs398123466 rs132630291 rs398123467 rs886043504 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60201-1; Sequence=Displayed; Name=DM-20; IsoId=P60201-2; Sequence=VSP_003325; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24103481}; Multi-pass membrane protein {ECO:0000269|PubMed:24103481}. Myelin membrane {ECO:0000250}. Note=Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat. {ECO:0000250}.


uniprotID: O60237
geneSymbol: PPP1R12B
reactome: R-HSA-2565942;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
length: 982
go: ENSG00000077157;
snps: rs2843414 rs3881953
name:
Protein phosphatase 1 regulatory subunit 12B (Myosin phosphatase-targeting subunit 2) (Myosin phosphatase target subunit 2)

sequence:

opentargets:
A band [GO:0031672]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; Z disc [GO:0030018]; enzyme activator activity [GO:0008047]; enzyme inhibitor activity [GO:0004857]; phosphatase regulator activity [GO:0019208]; protein kinase binding [GO:0019901]; regulation of muscle contraction [GO:0006937]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Name=1; IsoId=O60237-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; IsoId=O60237-2; Sequence=VSP_009257, VSP_009258; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available.; Name=3; Synonyms=hHS-M21B, Heart-specific myosin light chain phosphatase small subunit B; IsoId=O60237-3; Sequence=VSP_009256, VSP_009259; Note=Produced by alternative splicing of isoform 4.; Name=4; Synonyms=hHS-M21A, Heart-specific myosin light chain phosphatase small subunit A; IsoId=O60237-4; Sequence=VSP_009256; Note=Produced by alternative promoter usage.; Name=5; IsoId=O60237-5; Sequence=VSP_043159, VSP_043160; Note=No experimental confirmation available.; Name=6; IsoId=O60237-6; Sequence=VSP_059344; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12923170}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:12923170}. Note=Along actomyosin filaments. {ECO:0000269|PubMed:12923170}.


uniprotID: Q9UL68
geneSymbol: MYT1L
name: Myelin transcription factor 1-like protein (MyT1-L) (MyT1L)
length: 1186
go: ENSG00000186487;
sequence:

opentargets:
chromosome [GO:0005694]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; zinc ion binding [GO:0008270]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]; neuron development [GO:0048666]; neuron differentiation [GO:0030182]; neuron fate commitment [GO:0048663]; neuron fate specification [GO:0048665]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UL68-1; Sequence=Displayed; Name=3; IsoId=Q9UL68-3; Sequence=VSP_015722, VSP_015725; Note=No experimental confirmation available.; Name=4; IsoId=Q9UL68-4; Sequence=VSP_015724; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P97500}. Chromosome {ECO:0000250|UniProtKB:P97500}. Note=Preferentially binds to DNA binding sites that are in an open chromatin configuration. {ECO:0000250|UniProtKB:P97500}.


uniprotID: Q08AG7
geneSymbol: MZT1
reactome: R-HSA-380270;R-HSA-380320;
sequence: MASSSGAGAAAAAAAANLNAVRETMDVLLEISRILNTGLDMETLSICVRLCEQGINPEALSSVIKELRKATEALKAAENMTS
length: 82
go: ENSG00000204899;
snps: rs1465896
name:
Mitotic-spindle organizing protein 1 (Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1)

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; equatorial microtubule organizing center [GO:0000923]; gamma-tubulin ring complex [GO:0008274]; gamma-tubulin small complex, mitotic spindle pole body [GO:0061495]; interphase microtubule organizing center [GO:0031021]; spindle [GO:0005819]; gamma-tubulin binding [GO:0043015]; gamma-tubulin complex localization [GO:0033566]; microtubule nucleation by interphase microtubule organizing center [GO:0051415]; microtubule nucleation by spindle pole body [GO:0051417]; mitotic spindle assembly [GO:0090307]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20360068}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20360068}.


uniprotID: Q6P582
geneSymbol: MZT2A
reactome: R-HSA-380270;R-HSA-380320;
length: 158
go: ENSG00000173272;
name:
Mitotic-spindle organizing protein 2A (Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A)

sequence:
MAAQGVGPGPGSAAPPGLEAARQKLALRRKKVLSTEEMELYELAQAAGGGIDPDVFKILVDLLKLNVAPLAVFQMLKSMCAGQRLASEPQDPAAVSLPTSSVPETRGRDKGSAALGGVLALAERSNHEGSSQRMPRQPSATRLPKGGGPGKSPTQGST

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; gamma-tubulin ring complex [GO:0008274]; nucleoplasm [GO:0005654]; spindle [GO:0005819]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle.


uniprotID: Q5TBK1
geneSymbol: N4BP2L1
name: NEDD4-binding protein 2-like 1
length: 243
go: ENSG00000139597;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TBK1-1; Sequence=Displayed; Name=2; IsoId=Q5TBK1-2; Sequence=VSP_031319; 


uniprotID: O15049
geneSymbol: N4BP3
name: NEDD4-binding protein 3 (N4BP3)
length: 544
go: ENSG00000145911;
sequence:

opentargets:
axon [GO:0030424]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; nervous system development [GO:0007399]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:11717310}. Cell projection, axon {ECO:0000250|UniProtKB:Q3LUD3}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q3LUD3}. Note=In developing neurons, accumulates in early growth cones and at branching points of axons and dendrites. {ECO:0000250|UniProtKB:Q3LUD3}.


uniprotID: Q9Y5N5
geneSymbol: N6AMT1
reactome: R-HSA-156581;R-HSA-72764;
length: 214
go: ENSG00000156239;
snps: rs1997607 rs2205447 rs2205446
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6SKR2}.
name:
Methyltransferase N6AMT1 (HemK methyltransferase family member 2) (M.HsaHemK2P) (Methylarsonite methyltransferase N6AMT1) (EC 2.1.1.-) (N(6)-adenine-specific DNA methyltransferase 1) (EC 2.1.1.72) (Protein N(5)-glutamine methyltransferase) (EC 2.1.1.-)

sequence:

opentargets:
cytosol [GO:0005829]; eRF1 methyltransferase complex [GO:0035657]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; methylarsonite methyltransferase activity [GO:0030792]; nucleic acid binding [GO:0003676]; protein methyltransferase activity [GO:0008276]; protein-glutamine N-methyltransferase activity [GO:0036009]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; site-specific DNA-methyltransferase (adenine-specific) activity [GO:0009007]; arsonoacetate metabolic process [GO:0018872]; DNA methylation on adenine [GO:0032775]; methylation [GO:0032259]; peptidyl-glutamine methylation [GO:0018364]; positive regulation of cell growth [GO:0030307]; toxin metabolic process [GO:0009404]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha {ECO:0000303|PubMed:18539146}; IsoId=Q9Y5N5-1; Sequence=Displayed; Name=2; Synonyms=Beta {ECO:0000303|PubMed:18539146}; IsoId=Q9Y5N5-2; Sequence=VSP_040294; 


uniprotID: Q9BXJ9
geneSymbol: NAA15
pdb: 6C95;6C9M;
length: 866
go: ENSG00000164134;
snps: rs889543097 rs202204424
name:
N-alpha-acetyltransferase 15, NatA auxiliary subunit (Gastric cancer antigen Ga19) (N-terminal acetyltransferase) (NMDA receptor-regulated protein 1) (Protein tubedown-1) (Tbdn100)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; NatA complex [GO:0031415]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; N-terminal peptidyl-methionine acetylation [GO:0017196]; N-terminal protein amino acid acetylation [GO:0006474]; negative regulation of apoptotic process [GO:0043066]; positive regulation of transcription, DNA-templated [GO:0045893]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q9BXJ9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9BXJ9-4; Sequence=VSP_012560, VSP_012561; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Mainly cytoplasmic, nuclear in some cases. Present in the free cytosolic and cytoskeleton-bound polysomes, but not in the membrane-bound polysomes.


uniprotID: Q96RE7
geneSymbol: NACC1
pdb: 3GA1;4U2N;
name: Nucleus accumbens-associated protein 1 (NAC-1) (BTB/POZ domain-containing protein 14B)
length: 527
go: ENSG00000160877;
snps: rs1060505041
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Distribution in the cytoplasm is dependent on phosphorylation. {ECO:0000250}.


uniprotID: Q9NX63
geneSymbol: CHCHD3
reactome: R-HSA-1268020;R-HSA-8949613;
name: MICOS complex subunit MIC19 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 3)
length: 227
go: ENSG00000106554;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; MICOS complex [GO:0061617]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; phosphatase binding [GO:0019902]; protein-containing complex scaffold activity [GO:0032947]; cristae formation [GO:0042407]; inner mitochondrial membrane organization [GO:0007007]; mitochondrial fusion [GO:0008053]; negative regulation of transcription by RNA polymerase II [GO:0000122]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q9CRB9}; Lipid-anchor {ECO:0000305}; Intermembrane side {ECO:0000250|UniProtKB:Q9CRB9}. Cytoplasm {ECO:0000269|PubMed:22567091}. Nucleus {ECO:0000269|PubMed:22567091}. Mitochondrion {ECO:0000269|PubMed:25781180, ECO:0000269|PubMed:25997101}.


uniprotID: Q9BZK3
geneSymbol: NACA4P
length: 213
opentargets: nascent polypeptide-associated complex [GO:0005854]
name:
Putative nascent polypeptide-associated complex subunit alpha-like protein (Alpha-NAC pseudogene 1) (NAC-alpha pseudogene 1) (NACA family member 4, pseudogene)

sequence:


uniprotID: Q16891
geneSymbol: IMMT
reactome: R-HSA-8949613;
length: 758
go: ENSG00000132305;
snps: rs1050301 rs35233009
name:
MICOS complex subunit MIC60 (Cell proliferation-inducing gene 4/52 protein) (Mitochondrial inner membrane protein) (Mitofilin) (p87/89)

sequence:

opentargets:
membrane [GO:0016020]; MICOS complex [GO:0061617]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; RNA binding [GO:0003723]; cristae formation [GO:0042407]; mitochondrial calcium ion homeostasis [GO:0051560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q16891-1; Sequence=Displayed; Name=2; IsoId=Q16891-2; Sequence=VSP_013220; Name=3; IsoId=Q16891-3; Sequence=VSP_013221; Name=4; IsoId=Q16891-4; Sequence=VSP_047362; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:25764979, ECO:0000269|PubMed:25997101}; Single-pass membrane protein {ECO:0000255}. Mitochondrion {ECO:0000269|PubMed:25781180}.


uniprotID: Q6UXV4
geneSymbol: APOOL
reactome: R-HSA-114608;R-HSA-8949613;
name: MICOS complex subunit MIC27 (Apolipoprotein O-like) (Protein FAM121A)
length: 268
go: ENSG00000155008;
sequence:

opentargets:
extracellular region [GO:0005576]; MICOS complex [GO:0061617]; mitochondrion [GO:0005739]; platelet alpha granule lumen [GO:0031093]; cristae formation [GO:0042407]; platelet degranulation [GO:0002576]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23704930, ECO:0000269|PubMed:25764979}; Multi-pass membrane protein {ECO:0000269|PubMed:23704930}. Mitochondrion {ECO:0000269|PubMed:25781180, ECO:0000269|PubMed:25997101}.


uniprotID: Q7RTP6
geneSymbol: MICAL3
pdb: 2D88;5SZG;
length: 2002
go: ENSG00000243156;
snps: rs11913706 rs2289719 rs5992128
name:
[F-actin]-monooxygenase MICAL3 (EC 1.14.13.225) (Molecule interacting with CasL protein 3) (MICAL-3)

sequence:

opentargets:
cell cortex [GO:0005938]; cell projection [GO:0042995]; cytosol [GO:0005829]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spindle [GO:0005819]; actin binding [GO:0003779]; FAD binding [GO:0071949]; metal ion binding [GO:0046872]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; actin filament depolymerization [GO:0030042]; cell cycle [GO:0007049]; cell division [GO:0051301]; cytoskeleton organization [GO:0007010]; exocytosis [GO:0006887]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q7RTP6-1; Sequence=Displayed; Name=2; IsoId=Q7RTP6-2; Sequence=VSP_039487, VSP_039488; Note=No experimental confirmation available.; Name=3; IsoId=Q7RTP6-3; Sequence=VSP_039485, VSP_039487, VSP_039488; Name=4; IsoId=Q7RTP6-4; Sequence=VSP_039486, VSP_039489; Name=5; IsoId=Q7RTP6-5; Sequence=VSP_042600, VSP_042601, VSP_042602; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15694364}. Cytoplasm, cell cortex {ECO:0000269|PubMed:21596566}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15694364}. Nucleus {ECO:0000269|PubMed:24440334}. Midbody {ECO:0000269|PubMed:27528609}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:27528609}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000305|PubMed:26485645}. Note=Mainly localizes in the nucleus. {ECO:0000269|PubMed:24440334}.


uniprotID: Q9BRT3
geneSymbol: MIEN1
pdb: 2LJK;
length: 115
go: ENSG00000141741;
name:
Migration and invasion enhancer 1 (HBV X-transactivated gene 4 protein) (HBV XAg-transactivated protein 4) (Protein C35)

sequence:
MSGEPGQTSVAPPPEEVEPGSGVRIVVEYCEPCGFEATYLELASAVKEQYPGIEIESRLGGTGAFEIEINGQLVFSKLENGGFPYEKDLIEAIRRASNGETLEKITNSRPPCVIL

opentargets:
cytosol [GO:0005829]; intrinsic component of the cytoplasmic side of the plasma membrane [GO:0031235]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell migration [GO:0030335]; positive regulation of filopodium assembly [GO:0051491]; response to selenium ion [GO:0010269]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane; Lipid-anchor; Cytoplasmic side. Note=Concentrates at the leading edge of migrating cells. Localizes outside membrane raft regions.


uniprotID: Q8IY33
geneSymbol: MICALL2
length: 904
go: ENSG00000164877;
snps: rs12540098 rs4075307 rs61287564 rs11980797
name:
MICAL-like protein 2 (Junctional Rab13-binding protein) (Molecule interacting with CasL-like 2) (MICAL-L2)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell-cell junction [GO:0005911]; cytosol [GO:0005829]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; actinin binding [GO:0042805]; filamin binding [GO:0031005]; metal ion binding [GO:0046872]; Rab GTPase binding [GO:0017137]; actin cytoskeleton reorganization [GO:0031532]; actin filament polymerization [GO:0030041]; bicellular tight junction assembly [GO:0070830]; endocytic recycling [GO:0032456]; neuron projection development [GO:0031175]; positive regulation of protein targeting to mitochondrion [GO:1903955]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IY33-1; Sequence=Displayed; Name=2; IsoId=Q8IY33-2; Sequence=VSP_009854, VSP_009855; Note=No experimental confirmation available.; Name=3; IsoId=Q8IY33-3; Sequence=VSP_009856; Note=No experimental confirmation available.; Name=4; IsoId=Q8IY33-4; Sequence=VSP_009857; Note=No experimental confirmation available.; Name=5; IsoId=Q8IY33-5; Sequence=VSP_009858; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Recycling endosome {ECO:0000250}. Cell projection {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}.


uniprotID: Q8N108
geneSymbol: MIER1
name: Mesoderm induction early response protein 1 (Early response 1) (Er1) (Mi-er1) (hMi-er1)
length: 512
go: ENSG00000198160;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; RNA polymerase II repressing transcription factor binding [GO:0001103]; transcription corepressor activity [GO:0003714]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of chromatin silencing [GO:0031937]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=N3-beta; IsoId=Q8N108-11; Sequence=Displayed; Name=2; Synonyms=N2-beta; IsoId=Q8N108-12; Sequence=VSP_042450; Note=It is uncertain whether Met-1 or Met-55 is the initiator. {ECO:0000305}; Name=3; Synonyms=N1-beta; IsoId=Q8N108-13; Sequence=VSP_042451; Name=4; Synonyms=N1-alpha; IsoId=Q8N108-14; Sequence=VSP_042451, VSP_042452, VSP_042453; Name=5; Synonyms=N2-alpha; IsoId=Q8N108-15; Sequence=VSP_042450, VSP_042452, VSP_042453; Note=It is uncertain whether Met-1 or Met-55 is the initiator. {ECO:0000305}; Name=6; Synonyms=N3-alpha; IsoId=Q8N108-16; Sequence=VSP_042452, VSP_042453; Name=7; IsoId=Q8N108-17; Sequence=VSP_042449; Note=No experimental confirmation available.; Name=8; IsoId=Q8N108-18; Sequence=VSP_042451, VSP_043218; Name=9; IsoId=Q8N108-19; Sequence=VSP_044343, VSP_044344; Name=10; IsoId=Q8N108-20; Sequence=VSP_042451, VSP_055710, VSP_055711; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Nucleus.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm.


uniprotID: Q8NAN2
geneSymbol: MIGA1
reactome: R-HSA-1483166;
name: Mitoguardin 1 (Protein FAM73A)
length: 632
go: ENSG00000180488;
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NAN2-1; Sequence=Displayed; Name=2; IsoId=Q8NAN2-2; Sequence=VSP_024878, VSP_024879; Note=No experimental confirmation available.; 

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


uniprotID: P20774
geneSymbol: OGN
reactome: R-HSA-2022854;R-HSA-2022857;R-HSA-3656225;R-HSA-3656243;R-HSA-3656244;
name: Mimecan (Osteoglycin) (Osteoinductive factor) (OIF)
length: 298
go: ENSG00000106809;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; growth factor activity [GO:0008083]; keratan sulfate biosynthetic process [GO:0018146]; keratan sulfate catabolic process [GO:0042340]; negative regulation of smooth muscle cell proliferation [GO:0048662]


uniprotID: Q5JXC2
geneSymbol: MIIP
length: 388
go: ENSG00000116691;
snps: rs11553925 rs11588712 rs2295283 rs2295289 rs35317667 rs34874602
name:
Migration and invasion-inhibitory protein (IGFBP2-binding protein) (Invasion-inhibitory protein 45) (IIp45)

sequence:

opentargets:
negative regulation of cell migration [GO:0030336]; negative regulation of G2/M transition of mitotic cell cycle [GO:0010972]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JXC2-1; Sequence=Displayed; Name=2; Synonyms=IIP45S; IsoId=Q5JXC2-2; Sequence=VSP_032214; 


uniprotID: Q96C03
geneSymbol: MIEF2
pdb: 5WP9;
length: 454
go: ENSG00000177427;
snps: rs12603700 rs3751981
name:
Mitochondrial dynamics protein MID49 (Mitochondrial dynamics protein of 49 kDa) (Mitochondrial elongation factor 2) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; mitochondrion organization [GO:0007005]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of protein targeting to membrane [GO:0090314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96C03-1; Sequence=Displayed; Name=2; IsoId=Q96C03-2; Sequence=VSP_029358, VSP_029359; Note=No experimental confirmation available.; Name=3; IsoId=Q96C03-3; Sequence=VSP_047650; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:21508961}; Single-pass membrane protein {ECO:0000269|PubMed:21508961}. Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.


uniprotID: Q8IXI1
geneSymbol: RHOT2
reactome: R-HSA-194840;
pdb: 5KUT;
name: Mitochondrial Rho GTPase 2 (MIRO-2) (hMiro-2) (EC 3.6.5.-) (Ras homolog gene family member T2)
length: 618
go: ENSG00000140983;
snps: rs1139897 rs3177338
sequence:

opentargets:
cytosol [GO:0005829]; integral component of mitochondrial outer membrane [GO:0031307]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cellular homeostasis [GO:0019725]; mitochondrial outer membrane permeabilization [GO:0097345]; mitochondrion organization [GO:0007005]; mitochondrion transport along microtubule [GO:0047497]; regulation of mitochondrion organization [GO:0010821]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXI1-1; Sequence=Displayed; Name=2; IsoId=Q8IXI1-2; Sequence=VSP_019162, VSP_019163, VSP_019164; 

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


uniprotID: Q8WV92
geneSymbol: MITD1
pdb: 2YMB;4A5X;4A5Z;
name: MIT domain-containing protein 1
length: 249
go: ENSG00000158411;
sequence:

opentargets:
extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; intracellular membrane-bounded organelle [GO:0043231]; late endosome membrane [GO:0031902]; midbody [GO:0030496]; phosphatidylinositol binding [GO:0035091]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; midbody abscission [GO:0061952]; mitotic cytokinesis [GO:0000281]; negative regulation of protein binding [GO:0032091]

location:
SUBCELLULAR LOCATION: Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Midbody. Membrane; Peripheral membrane protein; Cytoplasmic side. Note=During cytokinesis, recruited to the midbody via interaction with CHMP1A. Interacts with membranes enriched in phosphoinositides.


uniprotID: O75030
geneSymbol: MITF
reactome: R-HSA-3232118;
pdb: 4C7N;
length: 526
go: ENSG00000187098;
snps: rs1057519325 rs104893745 rs1057519326 rs104893744 rs104893747 rs149617956
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27889061}.
name:
Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; bone remodeling [GO:0046849]; camera-type eye development [GO:0043010]; canonical Wnt signaling pathway involved in negative regulation of apoptotic process [GO:0044336]; cell fate commitment [GO:0045165]; melanocyte differentiation [GO:0030318]; negative regulation of cell migration [GO:0030336]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoclast differentiation [GO:0030316]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; 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]; protein-containing complex assembly [GO:0065003]; regulation of cell proliferation [GO:0042127]; regulation of osteoclast differentiation [GO:0045670]; regulation of RNA biosynthetic process [GO:2001141]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Comment=The X2-type isoforms differ from the X1-type isoforms by the absence of a 6 residue insert.; Name=A1; IsoId=O75030-1; Sequence=Displayed; Name=A2; IsoId=O75030-2; Sequence=VSP_002128; Name=B1; IsoId=O75030-3; Sequence=VSP_002124; Name=B2; IsoId=O75030-4; Sequence=VSP_002124, VSP_002128; Name=C1; IsoId=O75030-5; Sequence=VSP_002125; Name=C2; IsoId=O75030-6; Sequence=VSP_002125, VSP_002128; Name=H1; IsoId=O75030-7; Sequence=VSP_002126; Name=H2; IsoId=O75030-8; Sequence=VSP_002126, VSP_002128; Name=M1; IsoId=O75030-9; Sequence=VSP_002127; Name=M2; IsoId=O75030-10; Sequence=VSP_002127, VSP_002128; Name=Mdel; IsoId=O75030-11; Sequence=VSP_002127, VSP_045178, VSP_045179; Name=12; IsoId=O75030-12; Sequence=VSP_046438, VSP_045179; Note=No experimental confirmation available.; 


uniprotID: Q9H2W2
geneSymbol: MIXL1
length: 232
go: ENSG00000185155;
name:
Homeobox protein MIXL1 (Homeodomain protein MIX) (hMix) (MIX1 homeobox-like protein 1) (Mix.1 homeobox-like protein)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter sequence-specific DNA binding [GO:0000987]; 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 repressing transcription factor binding [GO:0001103]; RNA polymerase II transcription factor binding [GO:0001085]; cell migration involved in gastrulation [GO:0042074]; digestive tract development [GO:0048565]; endoderm development [GO:0007492]; endodermal cell differentiation [GO:0035987]; gastrulation [GO:0007369]; heart development [GO:0007507]; hematopoietic progenitor cell differentiation [GO:0002244]; hemopoiesis [GO:0030097]; negative regulation of hematopoietic progenitor cell differentiation [GO:1901533]; positive regulation of mesoderm development [GO:2000382]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2W2-1; Sequence=Displayed; Name=2; IsoId=Q9H2W2-2; Sequence=VSP_054305; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:12070013, ECO:0000269|PubMed:17303500}.


uniprotID: Q8NDC0
geneSymbol: MAPK1IP1L
length: 245
go: ENSG00000168175;
name:
MAPK-interacting and spindle-stabilizing protein-like (Mitogen-activated protein kinase 1-interacting protein 1-like)

sequence:


uniprotID: P27361
geneSymbol: MAPK3
pdb: 2ZOQ;4QTB;
length: 379
go: ENSG00000102882;
drug: DB04604;DB01169;DB02733;DB00605;
snps: rs55859133
reactome:
R-HSA-110056;R-HSA-112409;R-HSA-1169408;R-HSA-1295596;R-HSA-162658;R-HSA-198753;R-HSA-202670;R-HSA-2029482;R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-2871796;R-HSA-3371453;R-HSA-375165;R-HSA-445144;R-HSA-450341;R-HSA-456926;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5663213;R-HSA-5673001;R-HSA-5674135;R-HSA-5674499;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-6811558;R-HSA-73728;R-HSA-74749;R-HSA-879415;R-HSA-881907;R-HSA-8939211;R-HSA-8940973;R-HSA-8943724;R-HSA-982772;

name:
Mitogen-activated protein kinase 3 (MAP kinase 3) (MAPK 3) (EC 2.7.11.24) (ERT2) (Extracellular signal-regulated kinase 1) (ERK-1) (Insulin-stimulated MAP2 kinase) (MAP kinase isoform p44) (p44-MAPK) (Microtubule-associated protein 2 kinase) (p44-ERK1)

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; early endosome [GO:0005769]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; pseudopodium [GO:0031143]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; MAP kinase activity [GO:0004707]; MAP kinase kinase activity [GO:0004708]; phosphatase binding [GO:0019902]; phosphotyrosine residue binding [GO:0001784]; protein serine/threonine kinase activity [GO:0004674]; scaffold protein binding [GO:0097110]; activation of MAPK activity [GO:0000187]; apoptotic process [GO:0006915]; arachidonic acid metabolic process [GO:0019369]; axon guidance [GO:0007411]; Bergmann glial cell differentiation [GO:0060020]; BMP signaling pathway [GO:0030509]; cardiac neural crest cell development involved in heart development [GO:0061308]; cartilage development [GO:0051216]; caveolin-mediated endocytosis [GO:0072584]; cell cycle [GO:0007049]; cellular response to amino acid starvation [GO:0034198]; cellular response to cadmium ion [GO:0071276]; cellular response to dopamine [GO:1903351]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic substance [GO:0071310]; cellular response to reactive oxygen species [GO:0034614]; cellular response to tumor necrosis factor [GO:0071356]; DNA damage induced protein phosphorylation [GO:0006975]; ERK1 and ERK2 cascade [GO:0070371]; face development [GO:0060324]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; fibroblast growth factor receptor signaling pathway [GO:0008543]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; lung morphogenesis [GO:0060425]; MAPK cascade [GO:0000165]; negative regulation of apolipoprotein binding [GO:2000657]; outer ear morphogenesis [GO:0042473]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-tyrosine autophosphorylation [GO:0038083]; phosphorylation [GO:0016310]; platelet activation [GO:0030168]; positive regulation of cyclase activity [GO:0031281]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of metallopeptidase activity [GO:1905050]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of translation [GO:0045727]; positive regulation of xenophagy [GO:1904417]; protein phosphorylation [GO:0006468]; protein-containing complex assembly [GO:0065003]; regulation of cellular pH [GO:0030641]; regulation of cellular response to heat [GO:1900034]; regulation of cytoskeleton organization [GO:0051493]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of early endosome to late endosome transport [GO:2000641]; regulation of gene expression [GO:0010468]; regulation of Golgi inheritance [GO:0090170]; regulation of ossification [GO:0030278]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of stress-activated MAPK cascade [GO:0032872]; response to epidermal growth factor [GO:0070849]; response to exogenous dsRNA [GO:0043330]; response to toxic substance [GO:0009636]; sensory perception of pain [GO:0019233]; stress-activated MAPK cascade [GO:0051403]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trachea formation [GO:0060440]; transcription initiation from RNA polymerase I promoter [GO:0006361]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P27361-1; Sequence=Displayed; Name=2; IsoId=P27361-2; Sequence=VSP_041906; Name=3; Synonyms=ERK1b; IsoId=P27361-3; Sequence=VSP_041907; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Membrane, caveola {ECO:0000250|UniProtKB:P21708}. Note=Autophosphorylation at Thr-207 promotes nuclear localization.


uniprotID: Q9NPJ1
geneSymbol: MKKS
reactome: R-HSA-5620922;
name: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (Bardet-Biedl syndrome 6 protein)
length: 570
go: ENSG00000125863;
sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; kinociliary basal body [GO:1902636]; motile cilium [GO:0031514]; nucleus [GO:0005634]; ATP binding [GO:0005524]; RNA polymerase II repressing transcription factor binding [GO:0001103]; unfolded protein binding [GO:0051082]; artery smooth muscle contraction [GO:0014824]; brain morphogenesis [GO:0048854]; cartilage development [GO:0051216]; cerebral cortex development [GO:0021987]; chaperone-mediated protein complex assembly [GO:0051131]; cilium assembly [GO:0060271]; convergent extension involved in gastrulation [GO:0060027]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; determination of left/right symmetry [GO:0007368]; developmental process [GO:0032502]; face development [GO:0060324]; fat cell differentiation [GO:0045444]; gonad development [GO:0008406]; heart development [GO:0007507]; heart looping [GO:0001947]; hippocampus development [GO:0021766]; intracellular transport [GO:0046907]; melanosome transport [GO:0032402]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of appetite by leptin-mediated signaling pathway [GO:0038108]; negative regulation of blood pressure [GO:0045776]; negative regulation of gene expression [GO:0010629]; negative regulation of GTPase activity [GO:0034260]; non-motile cilium assembly [GO:1905515]; photoreceptor cell maintenance [GO:0045494]; pigment granule aggregation in cell center [GO:0051877]; positive regulation of multicellular organism growth [GO:0040018]; protein folding [GO:0006457]; regulation of cilium beat frequency involved in ciliary motility [GO:0060296]; regulation of stress fiber assembly [GO:0051492]; sensory perception of smell [GO:0007608]; social behavior [GO:0035176]; spermatid development [GO:0007286]; striatum development [GO:0021756]; vasodilation [GO:0042311]; visual perception [GO:0007601]

snps:
rs74315396 rs766132697 rs528833454 rs28937875 rs74315399 rs281797258 rs138111422 rs760185677 rs74315394 rs74315398 rs756083063 rs137853156 rs137853909 rs779116830 rs912923677 rs61734546 rs142327258 rs281797259 rs137853155 rs1547 rs149051148 rs1545 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytosol {ECO:0000269|PubMed:28753627}. Nucleus {ECO:0000269|PubMed:28753627}. Note=The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.


uniprotID: P45983
geneSymbol: MAPK8
length: 427
go: ENSG00000107643;
drug: DB07268;
snps: rs45483593
reactome:
R-HSA-111446;R-HSA-139910;R-HSA-193648;R-HSA-205043;R-HSA-2559580;R-HSA-2871796;R-HSA-376172;R-HSA-450321;R-HSA-450341;R-HSA-5693565;R-HSA-9007892;

pdb:
1UKH;1UKI;2G01;2GMX;2H96;2NO3;2XRW;2XS0;3ELJ;3O17;3O2M;3PZE;3V3V;3VUD;3VUG;3VUH;3VUI;3VUK;3VUL;3VUM;4AWI;4E73;4G1W;4HYS;4HYU;4IZY;4L7F;4QTD;4UX9;4YR8;5LW1;6F5E;

name:
Mitogen-activated protein kinase 8 (MAP kinase 8) (MAPK 8) (EC 2.7.11.24) (JNK-46) (Stress-activated protein kinase 1c) (SAPK1c) (Stress-activated protein kinase JNK1) (c-Jun N-terminal kinase 1)

sequence:

opentargets:
axon [GO:0030424]; basal dendrite [GO:0097441]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; histone deacetylase regulator activity [GO:0035033]; JUN kinase activity [GO:0004705]; kinase activity [GO:0016301]; MAP kinase activity [GO:0004707]; protein serine/threonine kinase activity [GO:0004674]; cellular response to amino acid starvation [GO:0034198]; cellular response to cadmium ion [GO:0071276]; cellular response to cytokine stimulus [GO:0071345]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic substance [GO:0071310]; cellular response to reactive oxygen species [GO:0034614]; Fc-epsilon receptor signaling pathway [GO:0038095]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; JUN phosphorylation [GO:0007258]; negative regulation of apoptotic process [GO:0043066]; negative regulation of protein binding [GO:0032091]; neuron development [GO:0048666]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cyclase activity [GO:0031281]; positive regulation of deacetylase activity [GO:0090045]; positive regulation of gene expression [GO:0010628]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of protein metabolic process [GO:0051247]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of DNA replication origin binding [GO:1902595]; regulation of gene expression [GO:0010468]; regulation of macroautophagy [GO:0016241]; regulation of protein localization [GO:0032880]; response to mechanical stimulus [GO:0009612]; response to UV [GO:0009411]; rhythmic process [GO:0048511]; stress-activated MAPK cascade [GO:0051403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; Synonyms=JNK1-alpha-2; IsoId=P45983-1; Sequence=Displayed; Name=1; Synonyms=JNK1-alpha-1; IsoId=P45983-2; Sequence=VSP_004833; Name=3; Synonyms=JNK1-beta-1; IsoId=P45983-3; Sequence=VSP_004831, VSP_004832, VSP_004833; Name=4; Synonyms=JNK1-beta-2; IsoId=P45983-4; Sequence=VSP_004831, VSP_004832; Name=5; IsoId=P45983-5; Sequence=VSP_054554, VSP_004833; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21148294}. Nucleus {ECO:0000269|PubMed:21148294}. Note=Colocalizes with POU5F1 in the nucleus. {ECO:0000250|UniProtKB:Q91Y86}.


uniprotID: O14950
geneSymbol: MYL12B
reactome: R-HSA-3928663;R-HSA-416572;R-HSA-445355;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
length: 172
go: ENSG00000118680;
snps: rs14720
name:
Myosin regulatory light chain 12B (MLC-2A) (MLC-2) (Myosin regulatory light chain 2-B, smooth muscle isoform) (Myosin regulatory light chain 20 kDa) (MLC20) (Myosin regulatory light chain MRLC2) (SHUJUN-1)

sequence:
MSSKKAKTKTTKKRPQRATSNVFAMFDQSQIQEFKEAFNMIDQNRDGFIDKEDLHDMLASLGKNPTDAYLDAMMNEAPGPINFTMFLTMFGEKLNGTDPEDVIRNAFACFDEEATGTIQEDYLRELLTTMGDRFTDEEVDELYREAPIDKKGNFNYIEFTRILKHGAKDKDD

opentargets:
apical part of cell [GO:0045177]; brush border [GO:0005903]; cell cortex region [GO:0099738]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; myosin II complex [GO:0016460]; stress fiber [GO:0001725]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; myosin heavy chain binding [GO:0032036]; muscle contraction [GO:0006936]; regulation of cell shape [GO:0008360]


uniprotID: Q14165
geneSymbol: MLEC
reactome: R-HSA-532668;R-HSA-6798695;
name: Malectin
length: 292
go: ENSG00000110917;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; carbohydrate binding [GO:0030246]; enzyme binding [GO:0019899]; carbohydrate metabolic process [GO:0005975]; neutrophil degranulation [GO:0043312]; protein folding [GO:0006457]

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


uniprotID: Q15049
geneSymbol: MLC1
name: Membrane protein MLC1
length: 377
go: ENSG00000100427;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; caveola [GO:0005901]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; protein transporter activity [GO:0008565]; protein-containing complex binding [GO:0044877]; caveolin-mediated endocytosis [GO:0072584]; cellular response to cholesterol [GO:0071397]; ion transport [GO:0006811]; positive regulation of intracellular transport [GO:0032388]; protein complex oligomerization [GO:0051259]; regulation of response to osmotic stress [GO:0047484]; vesicle-mediated transport [GO:0016192]

snps:
rs80358242 rs281875309 rs281875310 rs281875311 rs121908345 rs80358245 rs281875316 rs281875314 rs121908343 rs121908344 rs6010260 rs281875317 rs281875312 rs281875315 rs121908341 rs80358240 rs281875313 rs11568188 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15049-1; Sequence=Displayed; Name=2; IsoId=Q15049-2; Sequence=VSP_055494; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:22328087}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:22328087}. Endoplasmic reticulum {ECO:0000269|PubMed:22328087}.


uniprotID: Q15773
geneSymbol: MLF2
name: Myeloid leukemia factor 2 (Myelodysplasia-myeloid leukemia factor 2)
length: 248
go: ENSG00000089693;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; DNA binding [GO:0003677]; defense response [GO:0006952]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: P40692
geneSymbol: MLH1
reactome: R-HSA-5358565;R-HSA-5358606;R-HSA-5545483;R-HSA-5632987;R-HSA-6796648;R-HSA-912446;
pdb: 3RBN;4P7A;5U5P;
name: DNA mismatch repair protein Mlh1 (MutL protein homolog 1)
length: 756
go: ENSG00000076242;
sequence:

opentargets:
chiasma [GO:0005712]; late recombination nodule [GO:0005715]; male germ cell nucleus [GO:0001673]; membrane [GO:0016020]; mismatch repair complex [GO:0032300]; MutLalpha complex [GO:0032389]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; guanine/thymine mispair binding [GO:0032137]; single-stranded DNA binding [GO:0003697]; double-strand break repair via nonhomologous end joining [GO:0006303]; female meiosis chromosome segregation [GO:0016321]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; isotype switching [GO:0045190]; male meiosis chromosome segregation [GO:0007060]; meiotic metaphase I plate congression [GO:0043060]; meiotic spindle midzone assembly [GO:0051257]; meiotic telomere clustering [GO:0045141]; mismatch repair [GO:0006298]; negative regulation of mitotic recombination [GO:0045950]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; oogenesis [GO:0048477]; positive regulation of isotype switching to IgA isotypes [GO:0048298]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; resolution of meiotic recombination intermediates [GO:0000712]; response to bacterium [GO:0009617]; somatic hypermutation of immunoglobulin genes [GO:0016446]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

snps:
rs367654552 rs63750648 rs63750706 rs41295280 rs63749838 rs63750792 rs63750656 rs63749994 rs2020872 rs121912965 rs63749906 rs63751012 rs63750580 rs267607706 rs63751094 rs267607713 rs63751109 rs63751267 rs63751428 rs587778955 rs63750952 rs63749939 rs63750206 rs63750206 rs63750281 rs63751661 rs63749859 rs63750437 rs63749990 rs63750641 rs41295282 rs267607725 rs267607727 rs267607726 rs63750453 rs63750297 rs63750507 rs587779004 rs63749803 rs587779005 rs63750539 rs63750465 rs63750465 rs63750781 rs63750781 rs200076893 rs63750866 rs28930073 rs63750891 rs63750211 rs587779021 rs63750515 rs63750012 rs63751021 rs2308317 rs2308317 rs267607775 rs267607776 rs4986984 rs1799977 rs63751711 rs63750696 rs63750303 rs63750303 rs63750948 rs63750642 rs63751283 rs63751664 rs63751597 rs63751194 rs63751448 rs63751194 rs63750650 rs63750360 rs63750517 rs63750144 rs63750993 rs267607808 rs267607811 rs63750286 rs63750268 rs63751049 rs63750710 rs63751467 rs143009528 rs63750447 rs63750760 rs63750430 rs61751644 rs587778897 rs41294980 rs63750365 rs34213726 rs202038499 rs63750498 rs63751083 rs147939838 rs63750956 rs63750314 rs63751145 rs63749909 rs267607843 rs63750511 rs63750511 rs63750289 rs63750193 rs63750271 rs63750059 rs63750062 rs63751608 rs63751612 rs63751713 rs63751713 rs267607865 rs63751176 rs63750575 rs63750016 rs63750718 rs63750876 rs41295284 rs35502531 rs63750449 rs63750449 rs267607866 rs63750693 rs63750240 rs63751047 rs63750825 rs267607875 rs63749792 rs35045067 rs63750610 rs63750899 rs63750726 rs55907433 rs267607876 rs63749900 rs63749900 rs63749900 rs587778964 rs267607887 rs63750217 rs63751275 rs63750702 rs35831931 rs2020873 rs63749875 rs566928243 rs1800149 rs267607894 rs140195825 rs267607900 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P40692-1; Sequence=Displayed; Name=2; IsoId=P40692-2; Sequence=VSP_045201; Name=3; IsoId=P40692-3; Sequence=VSP_047023; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11429708, ECO:0000269|PubMed:14676842, ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:22753075}. Chromosome {ECO:0000269|PubMed:26300262}. Note=Recruited to chromatin in a MCM9-dependent manner. {ECO:0000269|PubMed:26300262}.


uniprotID: P10916
geneSymbol: MYL2
reactome: R-HSA-390522;
pdb: 5TBY;
length: 166
go: ENSG00000111245;
snps: rs104894363 rs104894370 rs104894368 rs2428140 rs104894369 rs121913658 rs199474815
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, A band {ECO:0000250|UniProtKB:P08733}.
name:
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (MLC-2) (MLC-2v) (Cardiac myosin light chain 2) (Myosin light chain 2, slow skeletal/ventricular muscle isoform) (MLC-2s/v) (Ventricular myosin light chain 2)

sequence:
MAPKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDGFIDKNDLRDTFAALGRVNVKNEEIDEMIKEAPGPINFTVFLTMFGEKLKGADPEETILNAFKVFDPEGKGVLKADYVREMLTTQAERFSKEEVDQMFAAFPPDVTGNLDYKNLVHIITHGEEKD

opentargets:
A band [GO:0031672]; cardiac myofibril [GO:0097512]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; myofibril [GO:0030016]; myosin complex [GO:0016459]; sarcomere [GO:0030017]; actin monomer binding [GO:0003785]; calcium ion binding [GO:0005509]; myosin heavy chain binding [GO:0032036]; structural constituent of muscle [GO:0008307]; cardiac muscle contraction [GO:0060048]; cardiac myofibril assembly [GO:0055003]; heart contraction [GO:0060047]; heart development [GO:0007507]; muscle cell fate specification [GO:0042694]; muscle fiber development [GO:0048747]; muscle filament sliding [GO:0030049]; negative regulation of cell growth [GO:0030308]; positive regulation of the force of heart contraction [GO:0098735]; post-embryonic development [GO:0009791]; regulation of striated muscle contraction [GO:0006942]; regulation of the force of heart contraction [GO:0002026]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]


uniprotID: P33991
geneSymbol: MCM4
reactome: R-HSA-176187;R-HSA-176974;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69052;
name: DNA replication licensing factor MCM4 (EC 3.6.4.12) (CDC21 homolog) (P1-CDC21)
length: 863
go: ENSG00000104738;
snps: rs17287663 rs762679
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
MCM complex [GO:0042555]; membrane [GO:0016020]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA helicase activity [GO:0003678]; 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: Q9BUT9
geneSymbol: MCRIP2
name: MAPK regulated corepressor interacting protein 2 (Protein FAM195A)
length: 160
go: ENSG00000172366;
opentargets: cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; nucleus [GO:0005634]
sequence:
MYTITKGPSKLVAQRRTGPTQQQVEGRLGELLKCRQPAPPTSQPPRAQPFAQPPGPWPLSSPGPRLVFNRVNGRRAPSTSPSFEGTQETYTVAHEENVRFVSEAWQQVQQQLDGGPAGEGGPRPVQYVERTPNPRLQNFVPIDLDEWWAQQFLARITSCS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUT9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9BUT9-2; Sequence=VSP_022712; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

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


uniprotID: Q9ULC4
geneSymbol: MCTS1
pdb: 3R90;5ONS;5VYC;
name: Malignant T-cell-amplified sequence 1 (MCT-1) (Multiple copies T-cell malignancies)
length: 181
go: ENSG00000232119;
snps: rs2233110
sequence:
MFKKFDEKENVSNCIQLKTSVIKGIKNQLIEQFPGIEPWLNQIMPKKDPVKIVRCHEHIEILTVNGELLFFRQREGPFYPTLRLLHKYPFILPHQQVDKGAIKFVLSGANIMCPGLTSPGAKLYPAAVDTIVAIMAEGKQHALCVGVMKMSAEDIEKVNKGIGIENIHYLNDGLWHMKTYK

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; plasma membrane [GO:0005886]; translation initiation factor activity [GO:0003743]; cell cycle [GO:0007049]; cellular response to DNA damage stimulus [GO:0006974]; formation of translation preinitiation complex [GO:0001731]; IRES-dependent viral translational initiation [GO:0075522]; positive regulation of cell proliferation [GO:0008284]; regulation of growth [GO:0040008]; ribosome disassembly [GO:0032790]; translation reinitiation [GO:0002188]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULC4-1; Sequence=Displayed; Name=2; IsoId=Q9ULC4-2; Sequence=VSP_034856; Name=3; IsoId=Q9ULC4-3; Sequence=VSP_041352; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11709712, ECO:0000269|PubMed:16982740}. Note=Nuclear relocalization after DNA damage.


uniprotID: Q15013
geneSymbol: MAD2L1BP
pdb: 2QYF;6F0X;
name: MAD2L1-binding protein (Caught by MAD2 protein)
length: 274
go: ENSG00000124688;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleus [GO:0005634]; spindle [GO:0005819]; mitotic cell cycle checkpoint [GO:0007093]; regulation of exit from mitosis [GO:0007096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15013-1; Sequence=Displayed; Name=2; IsoId=Q15013-3; Sequence=VSP_046268; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, spindle. Note=During early mitosis, unevenly distributed throughout the nucleoplasm. From metaphase to anaphase, concentrated on the spindle.


uniprotID: Q96AQ8
geneSymbol: MCUR1
length: 359
go: ENSG00000050393;
snps: rs1204145 rs3180196
name:
Mitochondrial calcium uniporter regulator 1 (MCU regulator 1) (Coiled-coil domain-containing protein 90A, mitochondrial)

sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; calcium import into the mitochondrion [GO:0036444]; calcium ion import [GO:0070509]; mitochondrial calcium ion transmembrane transport [GO:0006851]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AQ8-1; Sequence=Displayed; Name=2; IsoId=Q96AQ8-2; Sequence=VSP_026998, VSP_026999; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23178883}; Multi-pass membrane protein {ECO:0000269|PubMed:23178883}.


uniprotID: Q9UI95
geneSymbol: MAD2L2
reactome: R-HSA-110312;R-HSA-5655862;R-HSA-5656121;
pdb: 3ABD;3ABE;3VU7;4EXT;4GK0;4GK5;5XPT;5XPU;6BC8;6BCD;6BI7;
length: 211
go: ENSG00000116670;
snps: rs1057517674
name:
Mitotic spindle assembly checkpoint protein MAD2B (Mitotic arrest deficient 2-like protein 2) (MAD2-like protein 2) (REV7 homolog) (hREV7)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; spindle [GO:0005819]; zeta DNA polymerase complex [GO:0016035]; JUN kinase binding [GO:0008432]; RNA polymerase II activating transcription factor binding [GO:0001102]; actin filament organization [GO:0007015]; cell division [GO:0051301]; DNA damage response, signal transduction resulting in transcription [GO:0042772]; double-strand break repair [GO:0006302]; error-prone translesion synthesis [GO:0042276]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell-cell adhesion mediated by cadherin [GO:2000048]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; negative regulation of ubiquitin protein ligase activity [GO:1904667]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; positive regulation of isotype switching [GO:0045830]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell growth [GO:0001558]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11717438, ECO:0000269|PubMed:17541814, ECO:0000269|PubMed:17719540, ECO:0000269|PubMed:19753112}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19753112, ECO:0000269|PubMed:21063390}. Cytoplasm {ECO:0000269|PubMed:11717438, ECO:0000269|PubMed:17719540}. Chromosome {ECO:0000269|PubMed:29656893}. Note=Recruited to sites of chromosomal double-stranded breaks during G1 and S phase of the cell cycle. {ECO:0000269|PubMed:29656893}.


uniprotID: Q86YW9
geneSymbol: MED12L
length: 2145
go: ENSG00000144893;
snps: rs17290219 rs3108728 rs2131100 rs3732765 rs2276761
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 12-like protein (Mediator complex subunit 12-like protein) (Thyroid hormone receptor-associated-like protein) (Trinucleotide repeat-containing gene 11 protein-like)

sequence:

opentargets:
mediator complex [GO:0016592]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; transcription coactivator activity [GO:0003713]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86YW9-1; Sequence=Displayed; Name=2; Synonyms=NOPAR; IsoId=Q86YW9-2; Sequence=VSP_029995, VSP_029996; Name=3; Synonyms=NOPAR2; IsoId=Q86YW9-3; Sequence=VSP_029994, VSP_029995, VSP_029996; Note=No experimental confirmation available.; Name=4; IsoId=Q86YW9-4; Sequence=VSP_029997; 


uniprotID: P40925
geneSymbol: MDH1
reactome: R-HSA-70263;
length: 334
go: ENSG00000014641;
drug: DB03461;DB00157;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Malate dehydrogenase, cytoplasmic (EC 1.1.1.37) (Cytosolic malate dehydrogenase) (Diiodophenylpyruvate reductase) (EC 1.1.1.96)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; myelin sheath [GO:0043209]; diiodophenylpyruvate reductase activity [GO:0047860]; L-malate dehydrogenase activity [GO:0030060]; malic enzyme activity [GO:0004470]; NAD binding [GO:0051287]; gluconeogenesis [GO:0006094]; 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=P40925-1; Sequence=Displayed; Name=2; IsoId=P40925-2; Sequence=VSP_042661; Name=3; IsoId=P40925-3; Sequence=VSP_045847; Note=No experimental confirmation available.; 


uniprotID: Q99750
geneSymbol: MDFI
name: MyoD family inhibitor (Myogenic repressor I-mf)
length: 246
go: ENSG00000112559;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; transcription factor binding [GO:0008134]; cytoplasmic sequestering of transcription factor [GO:0042994]; dorsal/ventral axis specification [GO:0009950]; embryonic skeletal system morphogenesis [GO:0048704]; negative regulation of DNA binding [GO:0043392]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of Wnt signaling pathway [GO:0030178]; trophoblast giant cell differentiation [GO:0060707]


uniprotID: O43513
geneSymbol: MED7
reactome: R-HSA-1989781;R-HSA-212436;R-HSA-381340;
length: 233
go: ENSG00000155868;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Mediator of RNA polymerase II transcription subunit 7 (hMED7) (Activator-recruited cofactor 34 kDa component) (ARC34) (Cofactor required for Sp1 transcriptional activation subunit 9) (CRSP complex subunit 9) (Mediator complex subunit 7) (RNA polymerase transcriptional regulation mediator subunit 7 homolog) (Transcriptional coactivator CRSP33)

sequence:

opentargets:
mediator complex [GO:0016592]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; transcription factor complex [GO:0005667]; ubiquitin ligase complex [GO:0000151]; transcription coactivator activity [GO:0003713]; ubiquitin protein ligase activity [GO:0061630]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell population maintenance [GO:0019827]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: A8MW99
geneSymbol: MEI4
name: Meiosis-specific protein MEI4
length: 385
go: ENSG00000269964;
sequence:

opentargets:
lateral element [GO:0000800]; DNA recombination [GO:0006310]; meiotic DNA double-strand break formation [GO:0042138]; oogenesis [GO:0048477]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q8BRM6}. Note=Specifically localizes to unsynapsed chromosomal regions during meiosis. Located in discrete foci on the axes of meiotic chromosomes. The number of foci is highest at leptonema, decreases at zygonema and is strongly reduced in pachynema and subsequent stages. {ECO:0000250|UniProtKB:Q8BRM6}.


uniprotID: Q9BV36
geneSymbol: MLPH
length: 600
go: ENSG00000115648;
snps: rs119473031 rs2292880 rs3751109 rs3751108 rs3751107 rs11883500 rs2292884 rs3817362 rs58256353
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Melanophilin (Exophilin-3) (Slp homolog lacking C2 domains a) (SlaC2-a) (Synaptotagmin-like protein 2a)

sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; perinuclear region of cytoplasm [GO:0048471]; actin binding [GO:0003779]; metal ion binding [GO:0046872]; myosin binding [GO:0017022]; protein binding, bridging [GO:0030674]; Rab GTPase binding [GO:0017137]; intracellular protein transport [GO:0006886]; melanosome transport [GO:0032402]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BV36-1; Sequence=Displayed; Name=2; IsoId=Q9BV36-2; Sequence=VSP_007554; Name=3; IsoId=Q9BV36-3; Sequence=VSP_042158, VSP_007554, VSP_042159; Name=4; IsoId=Q9BV36-4; Sequence=VSP_054367, VSP_054368; Note=No experimental confirmation available.; Name=5; IsoId=Q9BV36-5; Sequence=VSP_055730; 


uniprotID: Q8N635
geneSymbol: MEIOB
name: Meiosis-specific with OB domain-containing protein (EC 3.1.-.-)
length: 442
go: ENSG00000162039;
snps: rs1742446 rs1657125 rs9806945
sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; single-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008310]; single-stranded DNA binding [GO:0003697]; double-strand break repair via homologous recombination [GO:0000724]; female meiosis I [GO:0007144]; fertilization [GO:0009566]; male meiosis I [GO:0007141]; male meiotic nuclear division [GO:0007140]; resolution of meiotic recombination intermediates [GO:0000712]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N635-1; Sequence=Displayed; Name=2; IsoId=Q8N635-2; Sequence=VSP_047664; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Chromosome {ECO:0000250}. Note=Co-localizes with the RPA complex on meiotic chromosome axes. Accumulates on resected DNA. Localization is dependent on SPATA22 (By similarity). {ECO:0000250}.


uniprotID: Q14D04
geneSymbol: VEPH1
name: Ventricular zone-expressed PH domain-containing protein homolog 1 (Protein melted)
length: 833
go: ENSG00000197415;
opentargets: plasma membrane [GO:0005886]
snps: rs34559487 rs1378796 rs1378795 rs11923380 rs34823544 rs16827563 rs59504298 rs11918974
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14D04-1; Sequence=Displayed; Name=2; IsoId=Q14D04-2; Sequence=VSP_027433; Note=No experimental confirmation available.; Name=3; IsoId=Q14D04-3; Sequence=VSP_027431, VSP_027432; Note=No experimental confirmation available.; Name=4; IsoId=Q14D04-4; Sequence=VSP_047655, VSP_047656; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26039994}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9VS24}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9VS24}.


uniprotID: Q9NWA0
geneSymbol: MED9
reactome: R-HSA-1989781;R-HSA-381340;
name: Mediator of RNA polymerase II transcription subunit 9 (Mediator complex subunit 9)
length: 146
go: ENSG00000141026;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MASAGVAAGRQAEDVLPPTSDQPLPDTKPLPPPQPPPVPAPQPQQSPAPRPQSPARAREEENYSFLPLVHNIIKCMDKDSPEVHQDLNALKSKFQEMRKLISTMPGIHLSPEQQQQQLQSLREQVRTKNELLQKYKSLCMFEIPKE

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


uniprotID: Q16819
geneSymbol: MEP1A
length: 746
go: ENSG00000112818;
snps: rs2274658 rs12197930 rs2297020 rs2297019 rs1804211
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Meprin A subunit alpha (EC 3.4.24.18) (Endopeptidase-2) (N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit alpha) (PABA peptide hydrolase) (PPH alpha)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; meprin A complex [GO:0017090]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]


uniprotID: Q9H9K5
geneSymbol: ERVMER34-1
length: 563
go: ENSG00000226887;
name:
Endogenous retroviral envelope protein HEMO (Endogenous retrovirus group MER34 member 1 Env polyprotein) (HERV-MER_4q12 provirus ancestral Env polyprotein) (Human endogenous MER34 (medium-reiteration-frequency-family-34) open reading frame) (Human endogenous MER34 ORF) (HEMO) [Cleaved into: Endogenous retroviral envelope protein HEMO, secreted form (Endogenous retroviral envelope protein HEMO, 48 kDa form)]

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Endogenous retroviral envelope protein HEMO: Cell membrane {ECO:0000269|PubMed:28739914}; Single-pass type I membrane protein {ECO:0000255}. Note=This uncleaved form present at the cell surface represents the major form (PubMed:28739914). {ECO:0000269|PubMed:28739914}.; SUBCELLULAR LOCATION: Endogenous retroviral envelope protein HEMO, secreted form: Secreted {ECO:0000269|PubMed:28739914}. Note=This secreted form, which is released in the extracellular medium following cleavage, constitutes a minor form (PubMed:28739914). {ECO:0000269|PubMed:28739914}.


uniprotID: Q14696
geneSymbol: MESD
length: 234
go: ENSG00000117899;
name:
LRP chaperone MESD (LDLR chaperone MESD) (Mesoderm development LRP chaperone MESD) (Mesoderm development candidate 2) (Mesoderm development protein) (Renal carcinoma antigen NY-REN-61)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; low-density lipoprotein particle receptor binding [GO:0050750]; mesoderm development [GO:0007498]; phagocytosis [GO:0006909]; positive regulation of skeletal muscle acetylcholine-gated channel clustering [GO:1904395]; protein folding [GO:0006457]; protein localization to cell surface [GO:0034394]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14696-1; Sequence=Displayed; Name=2; IsoId=Q14696-2; Sequence=VSP_055492, VSP_055493; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:15014448, ECO:0000269|PubMed:17488095}. Note=Released from apoptotic cells and shed photoreceptor outer segments. {ECO:0000250|UniProtKB:Q9ERE7}.


uniprotID: Q9BUU2
geneSymbol: METTL22
reactome: R-HSA-8876725;
name: Methyltransferase-like protein 22 (EC 2.1.1.-)
length: 404
go: ENSG00000067365;
snps: rs2270286 rs2302607 rs1731000 rs55747257
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23349634}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; heat shock protein binding [GO:0031072]; protein methyltransferase activity [GO:0008276]; protein-lysine N-methyltransferase activity [GO:0016279]; protein methylation [GO:0006479]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BUU2-1; Sequence=Displayed; Name=2; IsoId=Q9BUU2-2; Sequence=VSP_025107, VSP_025108; Name=3; IsoId=Q9BUU2-3; Sequence=VSP_025106; 


uniprotID: Q8N6R0
geneSymbol: METTL13
pdb: 5WCJ;
name: Methyltransferase-like protein 13 (EC 2.1.1.-)
length: 699
go: ENSG00000010165;
opentargets: methyltransferase activity [GO:0008168]
snps: rs774565178 rs2232816 rs2232819
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N6R0-5; Sequence=Displayed; Name=2; IsoId=Q8N6R0-4; Sequence=VSP_013922; Name=3; IsoId=Q8N6R0-3; Sequence=VSP_013919; Name=4; IsoId=Q8N6R0-1; Sequence=VSP_013920; Name=5; IsoId=Q8N6R0-2; Sequence=VSP_013919, VSP_013921; 


uniprotID: Q8N6Q8
geneSymbol: METTL25
name: Methyltransferase-like protein 25 (EC 2.1.1.-)
length: 603
go: ENSG00000127720;
opentargets: methyltransferase activity [GO:0008168]
snps: rs4296098
sequence:


uniprotID: Q8N6F8
geneSymbol: METTL27
name: Methyltransferase-like protein 27 (Williams-Beuren syndrome chromosomal region 27 protein)
length: 245
go: ENSG00000165171;
snps: rs13241921 rs13232463
sequence:


uniprotID: Q6P1Q9
geneSymbol: METTL2B
name: Methyltransferase-like protein 2B (EC 2.1.1.-)
length: 378
snps: rs2288557 rs2896399 rs2023329 rs1065267 rs2562741
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=Q6P1Q9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6P1Q9-2; Sequence=VSP_032816; 


uniprotID: Q6UX53
geneSymbol: METTL7B
name: Methyltransferase-like protein 7B (EC 2.1.1.-)
length: 244
go: ENSG00000170439;
opentargets: methyltransferase activity [GO:0008168]
sequence:


uniprotID: O95568
geneSymbol: METTL18
pdb: 4RFQ;
length: 372
go: ENSG00000171806;
snps: rs10489177 rs34396097 rs35984232 rs16862686 rs13375701
name:
Histidine protein methyltransferase 1 homolog (EC 2.1.1.-) (Arsenic-transactivated protein 2) (AsTP2) (Methyltransferase-like protein 18)

sequence:

opentargets:
protein-containing complex [GO:0032991]; heat shock protein binding [GO:0031072]; methyltransferase activity [GO:0008168]


uniprotID: P20592
geneSymbol: MX2
reactome: R-HSA-1169408;R-HSA-909733;
pdb: 4WHJ;4X0R;5UOT;
length: 715
go: ENSG00000183486;
name:
Interferon-induced GTP-binding protein Mx2 (Interferon-regulated resistance GTP-binding protein MxB) (Myxovirus resistance protein 2) (p78-related protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; nuclear pore [GO:0005643]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; microtubule binding [GO:0008017]; defense response [GO:0006952]; defense response to virus [GO:0051607]; dynamin family protein polymerization involved in mitochondrial fission [GO:0003374]; innate immune response [GO:0045087]; membrane fusion [GO:0061025]; mitochondrial fission [GO:0000266]; mRNA transport [GO:0051028]; protein transport [GO:0015031]; regulation of cell cycle [GO:0051726]; regulation of nucleocytoplasmic transport [GO:0046822]; response to interferon-alpha [GO:0035455]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P20592-1; Sequence=Displayed; Name=2; IsoId=P20592-2; Sequence=VSP_056443, VSP_056444, VSP_056445; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15184662}. Nucleus {ECO:0000269|PubMed:15184662}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:15184662}. Note=Localization to nuclear pores requires GTP-binding.


uniprotID: P50539
geneSymbol: MXI1
name: Max-interacting protein 1 (Max interactor 1) (Class C basic helix-loop-helix protein 11) (bHLHc11)
length: 228
go: ENSG00000119950;
snps: rs137852603
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; transcription corepressor activity [GO:0003714]; cytoplasmic sequestering of transcription factor [GO:0042994]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P50539-1; Sequence=Displayed; Name=2; IsoId=P50539-2; Sequence=VSP_012825; Name=3; IsoId=P50539-3; Sequence=VSP_037943; Name=4; IsoId=P50539-4; Sequence=VSP_012825, VSP_043170; 


uniprotID: Q96JP2
geneSymbol: MYO15B
pdb: 2DLP;
name: Unconventional myosin-XVB (Myosin XVBP) (Unconventional myosin-15B)
length: 1530
go: ENSG00000266714;
snps: rs3803728
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; myosin complex [GO:0016459]; ATP binding [GO:0005524]; motor activity [GO:0003774]


uniprotID: Q8IUG5
geneSymbol: MYO18B
name: Unconventional myosin-XVIIIb
length: 2567
go: ENSG00000133454;
sequence:

opentargets:
filamentous actin [GO:0031941]; nucleus [GO:0005634]; unconventional myosin complex [GO:0016461]; Z disc [GO:0030018]; actin binding [GO:0003779]; ATP binding [GO:0005524]; motor activity [GO:0003774]; cardiac muscle fiber development [GO:0048739]; in utero embryonic development [GO:0001701]; vasculogenesis [GO:0001570]

snps:
rs133885 rs13058434 rs750078923 rs3859866 rs370187232 rs5761170 rs9624909 rs17704912 rs5761268 rs35578357 rs695633 rs33928909 rs35370367 rs2236005 rs200567905 rs6004901 rs7284177 rs34875296 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUG5-1; Sequence=Displayed; Name=2; IsoId=Q8IUG5-2; Sequence=VSP_007764, VSP_007765; Note=No experimental confirmation available.; Name=3; IsoId=Q8IUG5-3; Sequence=VSP_059434; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, myofibril, sarcomere. Note=Punctate pattern in undifferentiated myoblasts. Nuclear, on primary cardiomyocytes and adult muscle. A partial sarcomeric location was found in some cardiomyocytes.


uniprotID: Q00266
geneSymbol: MAT1A
reactome: R-HSA-156581;R-HSA-1614635;R-HSA-2408508;R-HSA-5579024;
pdb: 2OBV;
length: 395
go: ENSG00000151224;
drug: DB03191;DB03611;DB00134;DB00118;
name:
S-adenosylmethionine synthase isoform type-1 (AdoMet synthase 1) (EC 2.5.1.6) (Methionine adenosyltransferase 1) (MAT 1) (Methionine adenosyltransferase I/III) (MAT-I/III)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; methionine adenosyltransferase activity [GO:0004478]; selenomethionine adenosyltransferase activity [GO:0098601]; methionine catabolic process [GO:0009087]; methylation [GO:0032259]; one-carbon metabolic process [GO:0006730]; protein homotetramerization [GO:0051289]; S-adenosylmethionine biosynthetic process [GO:0006556]; selenium compound metabolic process [GO:0001887]; sulfur amino acid metabolic process [GO:0000096]

snps:
rs118204002 rs1143693 rs773267230 rs118204005 rs72558181 rs118204004 rs118204001 rs118204006 rs138742870 rs118204003 


uniprotID: O75592
geneSymbol: MYCBP2
pdb: 5O6C;
length: 4678
snps: rs35887505 rs9574002
name:
E3 ubiquitin-protein ligase MYCBP2 (EC 2.3.2.-) (Myc-binding protein 2) (Protein associated with Myc)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein homodimerization activity [GO:0042803]; Ran GTPase binding [GO:0008536]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; branchiomotor neuron axon guidance [GO:0021785]; central nervous system projection neuron axonogenesis [GO:0021952]; negative regulation of protein catabolic process [GO:0042177]; neuromuscular process [GO:0050905]; protein ubiquitination [GO:0016567]; regulation of axon guidance [GO:1902667]; regulation of cytoskeleton organization [GO:0051493]; regulation of protein localization [GO:0032880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:9689053}; IsoId=O75592-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=O75592-2; Sequence=VSP_014183; Note=Derived from EST data. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26304119, ECO:0000269|PubMed:9689053}. Cell projection, axon {ECO:0000250|UniProtKB:Q7TPH6}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q7TPH6}. Note=Localizes to axon shafts and associates with microtubule cytoskeleton (By similarity). Translocates to the nucleus following interaction with sumoylated RANGAP1 (PubMed:26304119). {ECO:0000250|UniProtKB:Q7TPH6, ECO:0000269|PubMed:26304119}.


uniprotID: Q96EZ4
geneSymbol: MYEOV
name: Myeloma-overexpressed gene protein (Oncogene in multiple myeloma)
length: 313
go: ENSG00000172927;
snps: rs7103126 rs11539762 rs11228610 rs12274095
sequence:


uniprotID: Q9NRN9
geneSymbol: METTL5
name: Methyltransferase-like protein 5 (EC 2.1.1.-)
length: 209
go: ENSG00000138382;
opentargets: methyltransferase activity [GO:0008168]; nucleic acid binding [GO:0003676]
snps: rs1051387
sequence:


uniprotID: Q9H825
geneSymbol: METTL8
name: Methyltransferase-like protein 8 (EC 2.1.1.-)
length: 291
go: ENSG00000123600;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; tRNA (cytosine-3-)-methyltransferase activity [GO:0052735]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H825-1; Sequence=Displayed; Name=2; IsoId=Q9H825-2; Sequence=VSP_029514; 


uniprotID: P35749
geneSymbol: MYH11
reactome: R-HSA-3928663;R-HSA-416572;R-HSA-445355;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
name: Myosin-11 (Myosin heavy chain 11) (Myosin heavy chain, smooth muscle isoform) (SMMHC)
length: 1972
go: ENSG00000133392;
drug: DB04444;
snps: rs34263860 rs16967494 rs16967510 rs7196804 rs35176378 rs142546324
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; muscle myosin complex [GO:0005859]; myosin filament [GO:0032982]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; structural constituent of muscle [GO:0008307]; cardiac muscle fiber development [GO:0048739]; elastic fiber assembly [GO:0048251]; muscle contraction [GO:0006936]; skeletal muscle myosin thick filament assembly [GO:0030241]; smooth muscle contraction [GO:0006939]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=SM-A; IsoId=P35749-1; Sequence=Displayed; Name=2; Synonyms=SM-B1; IsoId=P35749-2; Sequence=VSP_043017; Note=This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles.; Name=3; Synonyms=SM-B2; IsoId=P35749-3; Sequence=VSP_043017, VSP_043018; Note=This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles.; Name=4; IsoId=P35749-4; Sequence=VSP_043018; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.


uniprotID: Q9UKX3
geneSymbol: MYH13
length: 1938
go: ENSG00000006788;
snps: rs2190729 rs2074877 rs2074876 rs17690195 rs3744550
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
name:
Myosin-13 (Myosin heavy chain 13) (Myosin heavy chain, skeletal muscle, extraocular) (MyHC-EO) (Myosin heavy chain, skeletal muscle, laryngeal) (MyHC-IIL) (Superfast myosin)

sequence:

opentargets:
extracellular exosome [GO:0070062]; muscle myosin complex [GO:0005859]; myofibril [GO:0030016]; myosin filament [GO:0032982]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; cellular response to starvation [GO:0009267]; muscle contraction [GO:0006936]


uniprotID: Q7Z406
geneSymbol: MYH14
reactome: R-HSA-3928663;R-HSA-416572;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
pdb: 5I4E;5JLH;
length: 1995
go: ENSG00000105357;
drug: DB01944;DB03126;DB08276;DB04444;
name:
Myosin-14 (Myosin heavy chain 14) (Myosin heavy chain, non-muscle IIc) (Non-muscle myosin heavy chain IIc) (NMHC II-C)

sequence:

opentargets:
actomyosin [GO:0042641]; brush border [GO:0005903]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; growth cone [GO:0030426]; membrane [GO:0016020]; myelin sheath [GO:0043209]; myosin II complex [GO:0016460]; myosin II filament [GO:0097513]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; actin filament-based movement [GO:0030048]; actomyosin structure organization [GO:0031032]; mitochondrion morphogenesis [GO:0070584]; neuronal action potential [GO:0019228]; regulation of cell shape [GO:0008360]; sensory perception of sound [GO:0007605]; skeletal muscle contraction [GO:0003009]; skeletal muscle tissue development [GO:0007519]; vocalization behavior [GO:0071625]

snps:
rs119103281 rs200424400 rs34498817 rs119103280 rs28940307 rs113993956 rs28940306 rs910420638 rs11669191 rs680446 rs769482601 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z406-1; Sequence=Displayed; Name=2; IsoId=Q7Z406-2; Sequence=VSP_040881, VSP_040882; Name=4; IsoId=Q7Z406-4; Sequence=VSP_014628; Name=5; IsoId=Q7Z406-5; Sequence=VSP_014629, VSP_014630; Name=6; IsoId=Q7Z406-6; Sequence=VSP_040881; 


uniprotID: Q9UJH8
geneSymbol: METRN
name: Meteorin
length: 293
go: ENSG00000103260;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; glial cell differentiation [GO:0010001]; positive regulation of axonogenesis [GO:0050772]


uniprotID: P12882
geneSymbol: MYH1
length: 1939
go: ENSG00000109061;
snps: rs150346984 rs752643679 rs3744564 rs139860229 rs3764850 rs150456818 rs1077841
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
name:
Myosin-1 (Myosin heavy chain 1) (Myosin heavy chain 2x) (MyHC-2x) (Myosin heavy chain IIx/d) (MyHC-IIx/d) (Myosin heavy chain, skeletal muscle, adult 1)

sequence:

opentargets:
A band [GO:0031672]; cytoplasmic ribonucleoprotein granule [GO:0036464]; intercalated disc [GO:0014704]; muscle myosin complex [GO:0005859]; myosin filament [GO:0032982]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; muscle contraction [GO:0006936]


uniprotID: Q9UKX2
geneSymbol: MYH2
reactome: R-HSA-2029482;
length: 1941
go: ENSG00000125414;
snps: rs121434589 rs143872329 rs142586585 rs34161789
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
name:
Myosin-2 (Myosin heavy chain 2) (Myosin heavy chain 2a) (MyHC-2a) (Myosin heavy chain IIa) (MyHC-IIa) (Myosin heavy chain, skeletal muscle, adult 2)

sequence:

opentargets:
cytosol [GO:0005829]; muscle myosin complex [GO:0005859]; myofibril [GO:0030016]; myosin filament [GO:0032982]; protein-containing complex [GO:0032991]; sarcomere [GO:0030017]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKX2-1; Sequence=Displayed; Name=2; IsoId=Q9UKX2-2; Sequence=VSP_056291; Note=No experimental confirmation available.; 


uniprotID: P11055
geneSymbol: MYH3
reactome: R-HSA-390522;
length: 1940
go: ENSG00000109063;
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
name:
Myosin-3 (Muscle embryonic myosin heavy chain) (Myosin heavy chain 3) (Myosin heavy chain, fast skeletal muscle, embryonic) (SMHCE)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; muscle myosin complex [GO:0005859]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; ATPase activity, coupled [GO:0042623]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; myosin phosphatase activity [GO:0017018]; actin filament-based movement [GO:0030048]; ATP metabolic process [GO:0046034]; embryonic limb morphogenesis [GO:0030326]; face morphogenesis [GO:0060325]; muscle filament sliding [GO:0030049]; muscle organ development [GO:0007517]; sarcomere organization [GO:0045214]; skeletal muscle contraction [GO:0003009]

snps:
rs121913619 rs139480342 rs121913621 rs121913618 rs121913617 rs121913620 rs34088014 rs796051884 rs12941197 rs2285477 rs35230241 rs1446303362 rs34165480 


uniprotID: Q9Y623
geneSymbol: MYH4
length: 1939
go: ENSG00000264424;
snps: rs12949680 rs3744558 rs917361 rs16943441 rs11651295 rs2277649 rs34260986 rs3744554
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
name:
Myosin-4 (Myosin heavy chain 2b) (MyHC-2b) (Myosin heavy chain 4) (Myosin heavy chain IIb) (MyHC-IIb) (Myosin heavy chain, skeletal muscle, fetal)

sequence:

opentargets:
muscle myosin complex [GO:0005859]; myofibril [GO:0030016]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; double-stranded RNA binding [GO:0003725]; microfilament motor activity [GO:0000146]; actin filament-based movement [GO:0030048]; ATP metabolic process [GO:0046034]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]


uniprotID: A7E2Y1
geneSymbol: MYH7B
length: 1983
go: ENSG00000078814;
snps: rs17092199 rs754511 rs3746442 rs2425015 rs3746435 rs6060147 rs6060148 rs7273482
name:
Myosin-7B (Antigen MLAA-21) (Myosin cardiac muscle beta chain) (Myosin heavy chain 7B, cardiac muscle beta isoform) (Slow A MYH14)

sequence:

opentargets:
cardiac myofibril [GO:0097512]; membrane [GO:0016020]; myosin filament [GO:0032982]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; motor activity [GO:0003774]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A7E2Y1-1; Sequence=Displayed; Name=2; IsoId=A7E2Y1-2; Sequence=VSP_059497, VSP_059498; Name=3; IsoId=A7E2Y1-3; Sequence=VSP_035359, VSP_035361; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15755502}; Peripheral membrane protein {ECO:0000269|PubMed:15755502}.


uniprotID: Q86XN8
geneSymbol: MEX3D
pdb: 2DGR;
length: 651
go: ENSG00000181588;
name:
RNA-binding protein MEX3D (RING finger and KH domain-containing protein 1) (RING finger protein 193) (TINO)

sequence:

opentargets:
nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; AU-rich element binding [GO:0017091]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; mRNA destabilization [GO:0061157]; mRNA localization resulting in posttranscriptional regulation of gene expression [GO:0010609]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86XN8-1; Sequence=Displayed; Name=2; Synonyms=TINO; IsoId=Q86XN8-2; Sequence=VSP_024019; Name=3; IsoId=Q86XN8-3; Sequence=VSP_047662; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Predominantly expressed in the cytoplasm and shuttles between the cytoplasm and the nucleus through the CRM1 export pathway. {ECO:0000250}.


uniprotID: Q96MC6
geneSymbol: MFSD14A
length: 490
go: ENSG00000156875;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Hippocampus abundant transcript 1 protein (Major facilitator superfamily domain-containing 14A) (Putative tetracycline transporter-like protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; transporter activity [GO:0005215]; transmembrane transport [GO:0055085]


uniprotID: Q13361
geneSymbol: MFAP5
reactome: R-HSA-1566948;R-HSA-2129379;
length: 173
go: ENSG00000197614;
snps: rs724159961
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
name:
Microfibrillar-associated protein 5 (MFAP-5) (MP25) (Microfibril-associated glycoprotein 2) (MAGP-2)

sequence:
MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTEDPNLVNDPATDETVLAVLADIAPSTDDLASLSEKNTTAECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLPPCENVDLQRPNGL

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; microfibril [GO:0001527]; extracellular matrix structural constituent [GO:0005201]; definitive hemopoiesis [GO:0060216]; extracellular matrix organization [GO:0030198]; supramolecular fiber organization [GO:0097435]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13361-1; Sequence=Displayed; Name=2; IsoId=Q13361-2; Sequence=VSP_056618; 


uniprotID: Q14728
geneSymbol: MFSD10
name: Major facilitator superfamily domain-containing protein 10 (Tetracycline transporter-like protein)
length: 455
go: ENSG00000109736;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
brush border membrane [GO:0031526]; cytoplasmic vesicle membrane [GO:0030659]; integral component of membrane [GO:0016021]; organic anion transmembrane transporter activity [GO:0008514]; tetracycline transmembrane transporter activity [GO:0008493]; apoptotic process [GO:0006915]; sodium-independent organic anion transport [GO:0043252]


uniprotID: O43934
geneSymbol: MFSD11
name: UNC93-like protein MFSD11 (Major facilitator superfamily domain-containing protein 11) (Protein ET)
length: 449
go: ENSG00000092931;
opentargets: integral component of membrane [GO:0016021]
snps: rs3198672
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43934-1; Sequence=Displayed; Name=2; IsoId=O43934-2; Sequence=VSP_028187; 


uniprotID: Q8IWD5
geneSymbol: MFSD6L
name: Major facilitator superfamily domain-containing protein 6-like
length: 586
opentargets: integral component of membrane [GO:0016021]
snps: rs2242373
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8IWI9
geneSymbol: MGA
reactome: R-HSA-8953750;
name: MAX gene-associated protein (MAX dimerization protein 5)
length: 3026
go: ENSG00000174197;
snps: rs3803348 rs2178004 rs17677811 rs17677991
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; negative regulation of G0 to G1 transition [GO:0070317]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWI9-1; Sequence=Displayed; Name=2; IsoId=Q8IWI9-2; Sequence=VSP_034534, VSP_034535; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWI9-3; Sequence=VSP_047669; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; Name=4; IsoId=Q8IWI9-4; Sequence=VSP_047670; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; 


uniprotID: Q86V88
geneSymbol: MDP1
pdb: 2WM8;
name: Magnesium-dependent phosphatase 1 (MDP-1) (EC 3.1.3.-) (EC 3.1.3.48)
length: 176
go: ENSG00000213920;
opentargets: metal ion binding [GO:0046872]; protein tyrosine phosphatase activity [GO:0004725]
sequence:
MARLPKLAVFDLDYTLWPFWVDTHVDPPFHKSSDGTVRDRRGQDVRLYPEVPEVLKRLQSLGVPGAAASRTSEIEGANQLLELFDLFRYFVHREIYPGSKITHFERLQQKTGIPFSQMIFFDDERRNIVDVSKLGVTCIHIQNGMNLQTLSQGLETFAKAQTGPLRSSLEESPFEA

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86V88-1; Sequence=Displayed; Name=2; IsoId=Q86V88-2; Sequence=VSP_015986, VSP_015987; Note=No experimental confirmation available.; Name=3; IsoId=Q86V88-3; Sequence=VSP_015985, VSP_015988; Note=No experimental confirmation available.; 


uniprotID: Q02045
geneSymbol: MYL5
reactome: R-HSA-445355;
length: 173
go: ENSG00000215375;
snps: rs2228354
name:
Myosin light chain 5 (Myosin regulatory light chain 5) (Superfast myosin regulatory light chain 2) (MYLC2) (MyLC-2)

sequence:
MASRKTKKKEGGALRAQRASSNVFSNFEQTQIQEFKEAFTLMDQNRDGFIDKEDLKDTYASLGKTNVKDDELDAMLKEASGPINFTMFLNLFGEKLSGTDAEETILNAFKMLDPDGKGKINKEYIKRLLMSQADKMTAEEVDQMFQFASIDVAGNLDYKALSYVITHGEEKEE

opentargets:
cytosol [GO:0005829]; muscle myosin complex [GO:0005859]; calcium ion binding [GO:0005509]; structural constituent of muscle [GO:0008307]; muscle contraction [GO:0006936]; regulation of muscle contraction [GO:0006937]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02045-1; Sequence=Displayed; Name=2; IsoId=Q02045-2; Sequence=VSP_026448; 


uniprotID: P60660
geneSymbol: MYL6
reactome: R-HSA-3928663;R-HSA-416572;R-HSA-445355;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
length: 151
go: ENSG00000092841;
snps: rs11553509 rs1050470
name:
Myosin light polypeptide 6 (17 kDa myosin light chain) (LC17) (Myosin light chain 3) (MLC-3) (Myosin light chain alkali 3) (Myosin light chain A3) (Smooth muscle and nonmuscle myosin light chain alkali 6)

sequence:
MCDFTEDQTAEFKEAFQLFDRTGDGKILYSQCGDVMRALGQNPTNAEVLKVLGNPKSDEMNVKVLDFEHFLPMLQTVAKNKDQGTYEDYVEGLRVFDKEGNGTVMGAEIRHVLVTLGEKMTEEEVEMLVAGHEDSNGCINYEAFVRHILSG

opentargets:
brush border [GO:0005903]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; myosin complex [GO:0016459]; unconventional myosin complex [GO:0016461]; vesicle [GO:0031982]; actin-dependent ATPase activity [GO:0030898]; calcium ion binding [GO:0005509]; motor activity [GO:0003774]; structural constituent of muscle [GO:0008307]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Non-muscle; Synonyms=MLC3nm, LC17A, LC17-nm; IsoId=P60660-1, P16475-1; Sequence=Displayed; Name=Smooth muscle; Synonyms=MLC3sm, LC17B, LC17-sm; IsoId=P60660-2, P24572-2; Sequence=VSP_009735; 


uniprotID: P24844
geneSymbol: MYL9
length: 172
go: ENSG00000101335;
reactome:
R-HSA-3928663;R-HSA-416572;R-HSA-445355;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;R-HSA-8936459;

name:
Myosin regulatory light polypeptide 9 (20 kDa myosin light chain) (LC20) (MLC-2C) (Myosin RLC) (Myosin regulatory light chain 2, smooth muscle isoform) (Myosin regulatory light chain 9) (Myosin regulatory light chain MRLC1)

sequence:
MSSKRAKAKTTKKRPQRATSNVFAMFDQSQIQEFKEAFNMIDQNRDGFIDKEDLHDMLASLGKNPTDEYLEGMMSEAPGPINFTMFLTMFGEKLNGTDPEDVIRNAFACFDEEASGFIHEDHLRELLTTMGDRFTDEEVDEMYREAPIDKKGNFNYVEFTRILKHGAKDKDD

opentargets:
cytosol [GO:0005829]; muscle myosin complex [GO:0005859]; stress fiber [GO:0001725]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; myosin heavy chain binding [GO:0032036]; structural constituent of muscle [GO:0008307]; muscle contraction [GO:0006936]; platelet aggregation [GO:0070527]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of muscle contraction [GO:0006937]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24844-1; Sequence=Displayed; Name=2; IsoId=P24844-2; Sequence=VSP_042834; 


uniprotID: Q9BQP7
geneSymbol: MGME1
pdb: 5ZYT;5ZYU;5ZYV;5ZYW;
name: Mitochondrial genome maintenance exonuclease 1 (EC 3.1.-.-)
length: 344
go: ENSG00000125871;
snps: rs11551768 rs587776944
sequence:

opentargets:
mitochondrion [GO:0005739]; single-stranded DNA exodeoxyribonuclease activity [GO:0008297]; mitochondrial DNA repair [GO:0043504]; mitochondrial DNA replication [GO:0006264]; mitochondrial genome maintenance [GO:0000002]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03030, ECO:0000269|PubMed:23313956, ECO:0000269|PubMed:23358826}.


uniprotID: Q8WY64
geneSymbol: MYLIP
reactome: R-HSA-8866427;R-HSA-983168;
pdb: 2YHN;2YHO;
length: 445
go: ENSG00000007944;
snps: rs9370867
name:
E3 ubiquitin-protein ligase MYLIP (EC 2.3.2.27) (Inducible degrader of the LDL-receptor) (Idol) (Myosin regulatory light chain interacting protein) (MIR) (RING-type E3 ubiquitin transferase MYLIP)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; cytoskeletal protein binding [GO:0008092]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cholesterol homeostasis [GO:0042632]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; negative regulation of neuron projection development [GO:0010977]; nervous system development [GO:0007399]; positive regulation of protein catabolic process [GO:0045732]; protein destabilization [GO:0031648]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of low-density lipoprotein particle receptor catabolic process [GO:0032803]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WY64-1; Sequence=Displayed; Name=2; IsoId=Q8WY64-2; Sequence=VSP_011828, VSP_011829; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:14550572}. Cell membrane {ECO:0000269|PubMed:14550572}; Peripheral membrane protein {ECO:0000269|PubMed:14550572}.


uniprotID: Q9H1R3
geneSymbol: MYLK2
pdb: 2LV6;3KF9;
name: Myosin light chain kinase 2, skeletal/cardiac muscle (MLCK2) (EC 2.7.11.18)
length: 596
go: ENSG00000101306;
drug: DB04825;
snps: rs121908107 rs121908108 rs56385445 rs34396614 rs34146416
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; sarcomere [GO:0030017]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; myosin light chain binding [GO:0032027]; myosin light chain kinase activity [GO:0004687]; cardiac muscle contraction [GO:0060048]; cardiac muscle tissue morphogenesis [GO:0055008]; neuromuscular synaptic transmission [GO:0007274]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of gene expression [GO:0010628]; protein autophosphorylation [GO:0046777]; regulation of muscle filament sliding [GO:0032971]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle satellite cell differentiation [GO:0014816]; striated muscle contraction [GO:0006941]

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.


uniprotID: Q96A72
geneSymbol: MAGOHB
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;R-HSA-9010553;R-HSA-975957;
pdb: 5XJC;5YZG;
name: Protein mago nashi homolog 2
length: 148
go: ENSG00000111196;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:
MAVASDFYLRYYVGHKGKFGHEFLEFEFRPDGKLRYANNSNYKNDVMIRKEAYVHKSVMEELKRIIDDSEITKEDDALWPPPDRVGRQELEIVIGDEHISFTTSKIGSLIDVNQSKDPEGLRVFYYLVQDLKCLVFSLIGLHFKIKPI

opentargets:
catalytic step 2 spliceosome [GO:0071013]; exon-exon junction complex [GO:0035145]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; RNA export from nucleus [GO:0006405]; RNA splicing [GO:0008380]


uniprotID: Q15746
geneSymbol: MYLK
reactome: R-HSA-445355;R-HSA-5627123;
pdb: 2CQV;2K0F;2YR3;5JQA;5JTH;
length: 1914
go: ENSG00000065534;
name:
Myosin light chain kinase, smooth muscle (MLCK) (smMLCK) (EC 2.7.11.18) (Kinase-related protein) (KRP) (Telokin) [Cleaved into: Myosin light chain kinase, smooth muscle, deglutamylated form]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; stress fiber [GO:0001725]; actin binding [GO:0003779]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; myosin light chain kinase activity [GO:0004687]; protein kinase activity [GO:0004672]; aorta smooth muscle tissue morphogenesis [GO:0060414]; bleb assembly [GO:0032060]; cardiovascular system development [GO:0072358]; cellular hypotonic response [GO:0071476]; muscle contraction [GO:0006936]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cell migration [GO:0030335]; positive regulation of wound healing [GO:0090303]; protein phosphorylation [GO:0006468]; smooth muscle contraction [GO:0006939]; tonic smooth muscle contraction [GO:0014820]

snps:
rs28497577 rs143896146 rs140148380 rs111256888 rs3796164 rs55846245 rs35912339 rs56378658 rs35436690 rs35156360 rs750686734 rs138172035 rs776858093 rs142835596 rs112537316 rs3732485 rs3732486 rs34542174 rs3732487 rs75370906 rs368390254 rs181663420 rs34982967 rs387906781 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=11;  Name=1; Synonyms=Non-muscle isozyme; IsoId=Q15746-1; Sequence=Displayed; Name=2; IsoId=Q15746-2; Sequence=VSP_004791; Name=3A; IsoId=Q15746-3; Sequence=VSP_004794; Name=3B; IsoId=Q15746-4; Sequence=VSP_004791, VSP_004794; Name=4; IsoId=Q15746-5; Sequence=VSP_004793; Name=Del-1790; IsoId=Q15746-6; Sequence=VSP_004795; Name=5; Synonyms=Smooth-muscle isozyme; IsoId=Q15746-7; Sequence=VSP_018845; Note=Transcribed from an alternative promoter resulting in the usage of Met-923 as initiator codon. {ECO:0000269|PubMed:22015949}; Name=6; Synonyms=Telokin; IsoId=Q15746-8; Sequence=VSP_018846; Note=Transcribed from an alternative promoter resulting in the usage of Met-1761 as initiator codon. Has no catalytic activity. Initiator Met is removed. {ECO:0000244|PubMed:22814378}; Name=7; IsoId=Q15746-9; Sequence=VSP_053791; Note=No experimental confirmation available.; Name=8; IsoId=Q15746-10; Sequence=VSP_018846, VSP_004795; Note=Transcribed from an alternative promoter resulting in the usage of Met-1761 as initiator codon. Initiator Met is removed. {ECO:0000244|PubMed:22814378}; Name=9; IsoId=Q15746-11; Sequence=VSP_018845, VSP_004795; Note=Transcribed from an alternative promoter resulting in the usage of Met-923 as initiator codon. {ECO:0000269|PubMed:22015949}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20053363}. Cell projection, lamellipodium {ECO:0000269|PubMed:20053363}. Cleavage furrow {ECO:0000269|PubMed:15020676}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:15020676}. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis. {ECO:0000269|PubMed:15020676}.


uniprotID: A6NI61
geneSymbol: MYMK
name: Protein myomaker (Myoblast fusion maker) (Transmembrane protein 226) (Transmembrane protein 8C)
length: 221
go: ENSG00000187616;
snps: rs137868995 rs964335184 rs1131692249 rs1131692247
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; muscle organ development [GO:0007517]; myoblast fusion [GO:0007520]; myoblast fusion involved in skeletal muscle regeneration [GO:0014905]; plasma membrane fusion [GO:0045026]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28681861}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9D1N4}. Note=Localizes on the cell surface of myoblasts during fusion and is down-regulated thereafter. {ECO:0000250|UniProtKB:Q9D1N4}.


uniprotID: Q9Y6X6
geneSymbol: MYO16
length: 1858
go: ENSG00000041515;
snps: rs911973 rs405397 rs16973313 rs3825491 rs157024
name:
Unconventional myosin-XVI (Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3) (Unconventional myosin-16)

sequence:

opentargets:
cytoplasm [GO:0005737]; myosin complex [GO:0016459]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; motor activity [GO:0003774]; cerebellum development [GO:0021549]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:10048485}; IsoId=Q9Y6X6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q9Y6X6-2; Sequence=VSP_052451; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15057823}; IsoId=Q9Y6X6-3; Sequence=VSP_052449, VSP_052450; Note=No experimental confirmation available. {ECO:0000305}; Name=4 {ECO:0000269|PubMed:15057823}; IsoId=Q9Y6X6-4; Sequence=VSP_052447, VSP_052448, VSP_052449, VSP_052450; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9ERC1}. Note=Found in puncta in soma and processes of astrocytes and dissociated cerebellar cells with the morphology of migrating granule cells. {ECO:0000250|UniProtKB:Q9ERC1}.


uniprotID: O43795
geneSymbol: MYO1B
name: Unconventional myosin-Ib (MYH-1c) (Myosin I alpha) (MMI-alpha) (MMIa)
length: 1136
go: ENSG00000128641;
sequence:

opentargets:
actin filament [GO:0005884]; apical part of cell [GO:0045177]; brush border [GO:0005903]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; myosin complex [GO:0016459]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; actin filament bundle assembly [GO:0051017]; actin filament organization [GO:0007015]; actin filament-based movement [GO:0030048]; post-Golgi vesicle-mediated transport [GO:0006892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43795-1; Sequence=Displayed; Name=2; IsoId=O43795-2; Sequence=VSP_012759; 


uniprotID: O00159
geneSymbol: MYO1C
reactome: R-HSA-1445148;R-HSA-2029482;R-HSA-5250924;
pdb: 4BYF;
name: Unconventional myosin-Ic (Myosin I beta) (MMI-beta) (MMIb)
length: 1063
go: ENSG00000197879;
snps: rs8081370 rs9905106
sequence:

opentargets:
basal plasma membrane [GO:0009925]; brush border [GO:0005903]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; membrane raft [GO:0045121]; microvillus [GO:0005902]; nuclear body [GO:0016604]; nuclear pore [GO:0005643]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; stereocilium membrane [GO:0060171]; unconventional myosin complex [GO:0016461]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; protein C-terminus binding [GO:0008022]; Ral GTPase binding [GO:0017160]; signaling receptor binding [GO:0005102]; cellular response to interferon-gamma [GO:0071346]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; mRNA transport [GO:0051028]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell migration [GO:0030335]; positive regulation of cell migration by vascular endothelial growth factor signaling pathway [GO:0038089]; positive regulation of cellular response to insulin stimulus [GO:1900078]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of vascular endothelial growth factor signaling pathway [GO:1900748]; protein targeting [GO:0006605]; protein targeting to membrane [GO:0006612]; regulation of bicellular tight junction assembly [GO:2000810]; vesicle transport along actin filament [GO:0030050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=O00159-1; Sequence=Displayed; Name=2; Synonyms=C; IsoId=O00159-2; Sequence=VSP_036861; Name=3; Synonyms=B, Nuclear myosin 1, NM1, NMI; IsoId=O00159-3; Sequence=VSP_036862; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:22736583}. Nucleus {ECO:0000269|PubMed:22736583}. Note=Colocalizes with RNA polymerase II. Absent from nucleoli and does not colocalize with RNA polymerase I. Translocates to nuclear speckles upon exposure to inhibitors of RNA polymerase II transcription.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell projection, stereocilium membrane {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Note=Colocalizes with CABP1 and CIB1 at cell margin, membrane ruffles and punctate regions on the cell membrane. Colocalizes in adipocytes with GLUT4 at actin-based membranes. Colocalizes with GLUT4 at insulin-induced ruffles at the cell membrane. Localizes transiently at cell membrane to region known to be enriched in PIP2. Activation of phospholipase C results in its redistribution to the cytoplasm (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleoplasm. Nucleus, nucleolus. Nucleus, nuclear pore complex. Note=Colocalizes with RNA polymerase II in the nucleus. Colocalizes with RNA polymerase I in nucleoli (By similarity). In the nucleolus, is localized predominantly in dense fibrillar component (DFC) and in granular component (GC). Accumulates strongly in DFC and GC during activation of transcription. Colocalizes with transcription sites. Colocalizes in the granular cortex at the periphery of the nucleolus with RPS6. Colocalizes in nucleoplasm with RPS6 and actin that are in contact with RNP particles. Colocalizes with RPS6 at the nuclear pore level. {ECO:0000250}.


uniprotID: Q12965
geneSymbol: MYO1E
name: Unconventional myosin-Ie (Myosin-Ic) (Unconventional myosin 1E)
length: 1108
go: ENSG00000157483;
snps: rs387906807 rs141565214 rs180951130 rs147579391
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; adherens junction [GO:0005912]; brush border [GO:0005903]; cell-cell junction [GO:0005911]; clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; myosin complex [GO:0016459]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; ATPase activity, coupled [GO:0042623]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; motor activity [GO:0003774]; phosphatidylinositol binding [GO:0035091]; actin filament-based movement [GO:0030048]; endocytosis [GO:0006897]; glomerular basement membrane development [GO:0032836]; glomerular filtration [GO:0003094]; glomerular visceral epithelial cell development [GO:0072015]; in utero embryonic development [GO:0001701]; nitrogen compound metabolic process [GO:0006807]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; post-embryonic hemopoiesis [GO:0035166]; vasculogenesis [GO:0001570]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Cell junction {ECO:0000250}. Note=Colocalizes with F-actin (By similarity). In cultured podocytes, it localizes close to and is associated with the cytoplasmic membrane, with enrichment at the lamellipodia tips. Colocalizes with cytoplasmic vesicles, including endocytic clathrin-coated vesicles. Colocalizes with dynamin at cytoplasmic vesicles. {ECO:0000250}.


uniprotID: O00160
geneSymbol: MYO1F
name: Unconventional myosin-If (Myosin-Ie)
length: 1098
go: ENSG00000142347;
snps: rs200797032 rs2288411
sequence:

opentargets:
unconventional myosin complex [GO:0016461]; actin binding [GO:0003779]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]


uniprotID: B0I1T2
geneSymbol: MYO1G
name: Unconventional myosin-Ig [Cleaved into: Minor histocompatibility antigen HA-2 (mHag HA-2)]
length: 1018
go: ENSG00000136286;
snps: rs61739531 rs3735485 rs2107737 rs7792760
sequence:

opentargets:
extracellular exosome [GO:0070062]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; leading edge membrane [GO:0031256]; membrane [GO:0016020]; microvillus [GO:0005902]; myosin complex [GO:0016459]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; motor activity [GO:0003774]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; cell gliding [GO:0071976]; cell-substrate adhesion [GO:0031589]; exocytosis [GO:0006887]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; T cell meandering migration [GO:0120117]; T cell mediated immunity [GO:0002456]; T cell migration [GO:0072678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=B0I1T2-1; Sequence=Displayed; Name=2; IsoId=B0I1T2-2; Sequence=VSP_034208, VSP_034209; Note=No experimental confirmation available.; Name=3; IsoId=B0I1T2-3; Sequence=VSP_034210; Note=No experimental confirmation available.; Name=4; IsoId=B0I1T2-4; Sequence=VSP_034211, VSP_034212; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19968988, ECO:0000269|PubMed:20071333}; Peripheral membrane protein {ECO:0000269|PubMed:19968988, ECO:0000269|PubMed:20071333}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q5SUA5}. Note=Recruited to Fc-gamma receptor (Fc-gamma-R) phagocytic cup. In T-cells, transiently accumulates in discrete areas at the plasma membrane of migrating cells or when membranes are deformed (By similarity). Localization at the membrane is not highly dependent on phosphatidylinositol 4,5-bisphosphate levels. Released from the membrane in the presence of ATP. May be enriched in peripheral processes, such as microvilli or ruffles. {ECO:0000250|UniProtKB:Q5SUA5, ECO:0000269|PubMed:20071333}.


uniprotID: Q8NEV4
geneSymbol: MYO3A
name: Myosin-IIIa (EC 2.7.11.1)
length: 1616
go: ENSG00000095777;
sequence:

opentargets:
cytoplasm [GO:0005737]; filamentous actin [GO:0031941]; filopodium [GO:0030175]; filopodium tip [GO:0032433]; myosin complex [GO:0016459]; stereocilium tip [GO:0032426]; actin binding [GO:0003779]; actin-dependent ATPase activity [GO:0030898]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; plus-end directed microfilament motor activity [GO:0060002]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cochlea morphogenesis [GO:0090103]; protein autophosphorylation [GO:0046777]; response to stimulus [GO:0050896]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

snps:
rs33968748 rs3737274 rs3824700 rs3824699 rs3817420 rs1423134583 rs33947968 rs3758449 rs34918608 rs35447806 rs35449183 rs35675577 rs3740231 rs35575696 rs1999240 rs34151474 rs34204285 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEV4-1; Sequence=Displayed; Name=2; IsoId=Q8NEV4-2; Sequence=VSP_056231, VSP_056232; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm {ECO:0000269|PubMed:25822849}. Cell projection, filopodium tip {ECO:0000269|PubMed:25822849}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q8K3H5}. Note=Increased localization at the filodium tip seen in the presence of MORN4. {ECO:0000269|PubMed:25822849}.


uniprotID: O14880
geneSymbol: MGST3
reactome: R-HSA-156590;R-HSA-5423646;
name: Microsomal glutathione S-transferase 3 (Microsomal GST-3) (EC 2.5.1.18) (Microsomal GST-III)
length: 152
go: ENSG00000143198;
drug: DB00143;
snps: rs1802087 rs1802088
sequence:
MAVLSKEYGFVLLTGAASFIMVAHLAINVSKARKKYKVEYPIMYSTDPENGHIFNCIQRAHQNTLEVYPPFLFFLAVGGVYHPRIASGLGLAWIVGRVLYAYGYYTGEPSKRSRGALGSIALLGLVGTTVCSAFQHLGWVKSGLGSGPKCCH

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; organelle membrane [GO:0031090]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; leukotriene-C4 synthase activity [GO:0004464]; glutathione derivative biosynthetic process [GO:1901687]; leukotriene biosynthetic process [GO:0019370]; lipid metabolic process [GO:0006629]; response to organonitrogen compound [GO:0010243]; xenobiotic metabolic process [GO:0006805]

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


uniprotID: Q8WXR4
geneSymbol: MYO3B
name: Myosin-IIIb (EC 2.7.11.1)
length: 1341
go: ENSG00000071909;
sequence:

opentargets:
cytoplasm [GO:0005737]; myosin complex [GO:0016459]; stereocilium tip [GO:0032426]; actin binding [GO:0003779]; ATP binding [GO:0005524]; motor activity [GO:0003774]; protein serine/threonine kinase activity [GO:0004674]; cochlea morphogenesis [GO:0090103]; response to stimulus [GO:0050896]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

snps:
rs35391761 rs55911154 rs34509373 rs10209102 rs4668246 rs55633190 rs56179904 rs34273653 rs10168181 rs55911627 rs6736609 rs33962844 rs11892763 rs55769829 rs35857918 rs34236931 rs10185178 rs34219776 rs34546065 rs56052422 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=MYO3B.2; IsoId=Q8WXR4-1; Sequence=Displayed; Name=2; Synonyms=MYO3B.0; IsoId=Q8WXR4-2; Sequence=VSP_010163; Name=3; Synonyms=MYO3B.1; IsoId=Q8WXR4-3; Sequence=VSP_010162, VSP_010163; Name=4; Synonyms=MYO3B.3; IsoId=Q8WXR4-4; Sequence=VSP_010162; Name=5; Synonyms=MYO3B.4; IsoId=Q8WXR4-5; Sequence=VSP_010164; Name=6; Synonyms=MYO3B.5; IsoId=Q8WXR4-6; Sequence=VSP_010165; Name=7; IsoId=Q8WXR4-7; Sequence=VSP_023111; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q1EG27}.


uniprotID: Q9Y4I1
geneSymbol: MYO5A
reactome: R-HSA-1445148;R-HSA-2029482;R-HSA-264876;
pdb: 4D07;4J5L;4LLI;4LX1;4LX2;5JCY;5JCZ;
length: 1855
go: ENSG00000197535;
snps: rs16964944 rs1058219 rs9282796
name:
Unconventional myosin-Va (Dilute myosin heavy chain, non-muscle) (Myosin heavy chain 12) (Myosin-12) (Myoxin)

sequence:

opentargets:
actomyosin [GO:0042641]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filopodium tip [GO:0032433]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; insulin-responsive compartment [GO:0032593]; intermediate filament [GO:0005882]; melanosome [GO:0042470]; membrane [GO:0016020]; microtubule plus-end [GO:0035371]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; photoreceptor outer segment [GO:0001750]; postsynapse [GO:0098794]; ruffle [GO:0001726]; smooth endoplasmic reticulum [GO:0005790]; unconventional myosin complex [GO:0016461]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; disordered domain specific binding [GO:0097718]; identical protein binding [GO:0042802]; microfilament motor activity [GO:0000146]; Rab GTPase binding [GO:0017137]; RNA binding [GO:0003723]; actin filament-based movement [GO:0030048]; cellular response to insulin stimulus [GO:0032869]; chemical synaptic transmission [GO:0007268]; establishment of endoplasmic reticulum localization to postsynapse [GO:0099089]; exocytosis [GO:0006887]; hair follicle maturation [GO:0048820]; insulin secretion [GO:0030073]; locomotion involved in locomotory behavior [GO:0031987]; long-chain fatty acid biosynthetic process [GO:0042759]; melanin biosynthetic process [GO:0042438]; melanocyte differentiation [GO:0030318]; melanosome transport [GO:0032402]; myelination [GO:0042552]; odontogenesis [GO:0042476]; post-Golgi vesicle-mediated transport [GO:0006892]; protein localization to plasma membrane [GO:0072659]; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0031585]; regulation of postsynaptic cytosolic calcium ion concentration [GO:0099566]; secretory granule localization [GO:0032252]; synapse organization [GO:0050808]; vesicle transport along actin filament [GO:0030050]; vesicle-mediated transport [GO:0016192]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4I1-1; Sequence=Displayed; Name=2; IsoId=Q9Y4I1-2; Sequence=VSP_003351; Name=3; IsoId=Q9Y4I1-3; Sequence=VSP_003352; 


uniprotID: A6NG13
geneSymbol: MGAT4D
length: 374
go: ENSG00000205301;
name:
Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D (N-acetylglucosaminyltransferase MGAT1 inhibitory protein) (GlcNAcT-I inhibitory protein) (GnT1IP)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; transferase activity, transferring glycosyl groups [GO:0016757]; cell differentiation [GO:0030154]; negative regulation of protein glycosylation [GO:0060051]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q4V8F8}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q4V8F8}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q96NR2
geneSymbol: MIR1-1HG-AS1
name: Putative MIR1-1HG-AS1 (C20orf166 antisense gene protein 1)
length: 134
snps: rs3934574
sequence:
MQTLATGHLAHEGSSPHKLSGGRTQESSGFSEAKGGHGAPRHSASHGATPSGLRRGLHCREGPSDSGFQPHPGPPLSVPSGPLAPRARRHPNPLGMSVLRMWHTRPGRAILLLLHPPQPWIRGLYRGQKFTQSR


uniprotID: Q13459
geneSymbol: MYO9B
reactome: R-HSA-194840;R-HSA-2029482;R-HSA-8985586;
pdb: 5C5S;5HPY;
name: Unconventional myosin-IXb (Unconventional myosin-9b)
length: 2157
go: ENSG00000099331;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; myosin complex [GO:0016459]; perinuclear region of cytoplasm [GO:0048471]; actin binding [GO:0003779]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; microfilament motor activity [GO:0000146]; Rho GTPase binding [GO:0017048]; Roundabout binding [GO:0048495]; actin filament-based movement [GO:0030048]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]; Roundabout signaling pathway [GO:0035385]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q13459-1; Sequence=Displayed; Name=Short; IsoId=Q13459-2; Sequence=VSP_003361, VSP_003362; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000269|PubMed:8907710}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:8907710}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:8907710, ECO:0000269|PubMed:9490638}. Note=In undifferentiated cells colocalizes with F-actin in the cell periphery while in differentiated cells its localization is cytoplasmic with the highest levels in the perinuclear region. {ECO:0000269|PubMed:8907710}.


uniprotID: Q9NQG6
geneSymbol: MIEF1
pdb: 4NXT;4NXU;4NXV;4NXW;4NXX;5X9B;5X9C;
length: 463
go: ENSG00000100335;
snps: rs2272830 rs17001213 rs2232088 rs2232091
name:
Mitochondrial dynamics protein MID51 (Mitochondrial dynamics protein of 51 kDa) (Mitochondrial elongation factor 1) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like) (SMCR7-like protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ADP binding [GO:0043531]; GDP binding [GO:0019003]; identical protein binding [GO:0042802]; mitochondrial fission [GO:0000266]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of protein targeting to membrane [GO:0090314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=1; IsoId=Q9NQG6-1; Sequence=Displayed; Name=2; IsoId=Q9NQG6-2; Sequence=VSP_056383, VSP_056384; Name=3; Synonyms=uORF {ECO:0000303|PubMed:25621764}, AltMIEF1 {ECO:0000303|PubMed:29083303}; IsoId=L0R8F8-1; Sequence=External; Note=Product of the upstream open reading frame of this bicistronic gene. {ECO:0000305|PubMed:25621764}; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:24515348}; Single-pass membrane protein {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:24515348}.


uniprotID: P10244
geneSymbol: MYBL2
reactome: R-HSA-1362300;R-HSA-156711;R-HSA-8869496;
pdb: 6C48;
name: Myb-related protein B (B-Myb) (Myb-like protein 2)
length: 700
go: ENSG00000101057;
snps: rs6017146 rs2070235 rs7660 rs11556379
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
Myb complex [GO:0031523]; nucleoplasm [GO:0005654]; 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]; cellular response to leukemia inhibitory factor [GO:1990830]; mitotic cell cycle [GO:0000278]; mitotic spindle assembly [GO:0090307]; positive regulation of neuron apoptotic process [GO:0043525]; 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 transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10244-1; Sequence=Displayed; Name=2; IsoId=P10244-2; Sequence=VSP_053987; Note=No experimental confirmation available.; 


uniprotID: Q13203
geneSymbol: MYBPH
name: Myosin-binding protein H (MyBP-H) (H-protein)
length: 477
go: ENSG00000133055;
snps: rs2788532 rs2791721 rs2642531
sequence:

opentargets:
myosin filament [GO:0032982]; structural constituent of muscle [GO:0008307]; cell adhesion [GO:0007155]; regulation of striated muscle contraction [GO:0006942]


uniprotID: Q8TBZ2
geneSymbol: MYCBPAP
name: MYCBP-associated protein (AMAM-1) (AMY-1-binding protein 1) (AMAP-1)
length: 947
snps: rs1380657 rs9890721 rs1133818
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; cell differentiation [GO:0030154]; chemical synaptic transmission [GO:0007268]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12151104}. Membrane {ECO:0000250|UniProtKB:Q69CM7}. Note=Colocalizes with MYCBP in the cytoplasm. {ECO:0000250|UniProtKB:Q69CM7, ECO:0000269|PubMed:12151104}.


uniprotID: Q8IZQ8
geneSymbol: MYOCD
name: Myocardin
length: 938
go: ENSG00000141052;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; R-SMAD binding [GO:0070412]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II sequence-specific DNA-binding transcription factor binding [GO:0061629]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; cardiac muscle cell differentiation [GO:0055007]; cardiac ventricle development [GO:0003231]; cardiocyte differentiation [GO:0035051]; cellular component maintenance [GO:0043954]; digestive tract development [GO:0048565]; ductus arteriosus closure [GO:0097070]; lung alveolus development [GO:0048286]; negative regulation of amyloid-beta clearance [GO:1900222]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of platelet-derived growth factor receptor-beta signaling pathway [GO:2000587]; negative regulation of skeletal muscle cell differentiation [GO:2001015]; 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 smooth muscle cell proliferation [GO:1904706]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of cardiac vascular smooth muscle cell differentiation [GO:2000724]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of smooth muscle cell differentiation [GO:0051152]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation [GO:0003257]; positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation [GO:2000721]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of cell growth by extracellular stimulus [GO:0001560]; regulation of histone acetylation [GO:0035065]; regulation of myoblast differentiation [GO:0045661]; regulation of phenotypic switching [GO:1900239]; regulation of smooth muscle cell differentiation [GO:0051150]; response to hypoxia [GO:0001666]; smooth muscle cell differentiation [GO:0051145]; urinary bladder development [GO:0060157]; uterus development [GO:0060065]; vascular smooth muscle cell differentiation [GO:0035886]; vasculogenesis [GO:0001570]; ventricular cardiac muscle cell differentiation [GO:0055012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Myocardin-A; IsoId=Q8IZQ8-1; Sequence=Displayed; Name=2; Synonyms=Myocardin-C; IsoId=Q8IZQ8-2; Sequence=VSP_007658, VSP_007659, VSP_007660, VSP_007661; Note=No experimental confirmation available.; Name=3; Synonyms=Myocardin-B; IsoId=Q8IZQ8-3; Sequence=VSP_007659; 


uniprotID: P12524
geneSymbol: MYCL
length: 364
go: ENSG00000116990;
snps: rs3134614
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:2548855}.
name:
Protein L-Myc (Class E basic helix-loop-helix protein 38) (bHLHe38) (Protein L-Myc-1) (V-myc myelocytomatosis viral oncogene homolog)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; regulation of inner ear auditory receptor cell differentiation [GO:0045607]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P12524-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P12524-2; Sequence=VSP_053766, VSP_015539, VSP_015540; Name=3; IsoId=P12524-3; Sequence=VSP_053766; 


uniprotID: P04198
geneSymbol: MYCN
pdb: 5G1X;
name: N-myc proto-oncogene protein (Class E basic helix-loop-helix protein 37) (bHLHe37)
length: 464
go: ENSG00000134323;
snps: rs104893646 rs104893647 rs104893648
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
chromatin [GO:0000785]; nucleolus [GO:0005730]; 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]; kinase binding [GO:0019900]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of gene expression [GO:0010629]; positive regulation of gene expression [GO:0010628]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; 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]


uniprotID: P12525
geneSymbol: MYCLP1
length: 358
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Putative myc-like protein MYCLP1 (Protein L-Myc-2) (V-myc myelocytomatosis viral oncogene homolog pseudogene 1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; protein dimerization activity [GO:0046983]


uniprotID: P01106
geneSymbol: MYC
pdb: 1A93;1EE4;1MV0;1NKP;2A93;2OR9;4Y7R;5I4Z;5I50;6C4U;
length: 439
go: ENSG00000136997;
drug: DB08813;
snps: rs4645959 rs121918684 rs28933407 rs121918685 rs121918683 rs4645960 rs4645961 rs4645968
reactome:
R-HSA-1362277;R-HSA-2122947;R-HSA-2173796;R-HSA-2644606;R-HSA-2894862;R-HSA-4411364;R-HSA-5687128;R-HSA-5689880;R-HSA-6785807;R-HSA-69202;R-HSA-69656;R-HSA-8866911;R-HSA-8951430;R-HSA-9018519;

name:
Myc proto-oncogene protein (Class E basic helix-loop-helix protein 39) (bHLHe39) (Proto-oncogene c-Myc) (Transcription factor p64)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; activating transcription factor binding [GO:0033613]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; beta-catenin-TCF complex assembly [GO:1904837]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell cycle arrest [GO:0007050]; cellular iron ion homeostasis [GO:0006879]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to drug [GO:0035690]; cellular response to hypoxia [GO:0071456]; cellular response to UV [GO:0034644]; chromatin remodeling [GO:0006338]; chromosome organization [GO:0051276]; cytokine-mediated signaling pathway [GO:0019221]; energy reserve metabolic process [GO:0006112]; ERK1 and ERK2 cascade [GO:0070371]; fibroblast apoptotic process [GO:0044346]; G1/S transition of mitotic cell cycle [GO:0000082]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell division [GO:0051782]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of monocyte differentiation [GO:0045656]; negative regulation of stress-activated MAPK cascade [GO:0032873]; negative regulation of transcription by RNA polymerase II [GO:0000122]; Notch signaling pathway [GO:0007219]; oxygen transport [GO:0015671]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of DNA methylation [GO:1905643]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene expression [GO:0010628]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of metanephric cap mesenchymal cell proliferation [GO:0090096]; positive regulation of response to DNA damage stimulus [GO:2001022]; positive regulation of telomerase activity [GO:0051973]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein deubiquitination [GO:0016579]; protein-DNA complex disassembly [GO:0032986]; regulation of gene expression [GO:0010468]; regulation of telomere maintenance [GO:0032204]; regulation of transcription by RNA polymerase II [GO:0006357]; response to drug [GO:0042493]; response to gamma radiation [GO:0010332]; response to growth factor [GO:0070848]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P01106-1; Sequence=Displayed; Name=2; IsoId=P01106-2; Sequence=VSP_037813; Note=Initiates from CTG codon. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17558397}. Nucleus, nucleolus {ECO:0000269|PubMed:17558397, ECO:0000269|PubMed:25775507}.


uniprotID: Q99836
geneSymbol: MYD88
pdb: 2JS7;2Z5V;3MOP;4DOM;4EO7;
name: Myeloid differentiation primary response protein MyD88
length: 296
reactome:
R-HSA-1236974;R-HSA-1257604;R-HSA-166058;R-HSA-1810476;R-HSA-209543;R-HSA-3134963;R-HSA-5602498;R-HSA-5602680;R-HSA-5603037;R-HSA-5603041;R-HSA-6811558;R-HSA-9020702;R-HSA-975110;R-HSA-975138;R-HSA-975155;R-HSA-975871;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; death receptor binding [GO:0005123]; identical protein binding [GO:0042802]; protein self-association [GO:0043621]; TIR domain binding [GO:0070976]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; apoptotic process [GO:0006915]; cell surface receptor signaling pathway [GO:0007166]; cellular response to mechanical stimulus [GO:0071260]; cellular response to oxidised low-density lipoprotein particle stimulus [GO:0140052]; defense response to bacterium [GO:0042742]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of interleukin-23 production [GO:0032747]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of type I interferon production [GO:0032481]; regulation of inflammatory response [GO:0050727]; response to interleukin-1 [GO:0070555]; signal transduction [GO:0007165]; toll-like receptor 9 signaling pathway [GO:0034162]; toll-like receptor signaling pathway [GO:0002224]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q99836-1; Sequence=Displayed; Name=2; IsoId=Q99836-2; Sequence=VSP_038887; Note=No experimental confirmation available.; Name=3; IsoId=Q99836-3; Sequence=VSP_043500; Note=No experimental confirmation available.; Name=4; IsoId=Q99836-4; Sequence=VSP_043498, VSP_043499, VSP_043500; Note=No experimental confirmation available.; Name=5; IsoId=Q99836-5; Sequence=VSP_053764; Name=6; IsoId=Q99836-6; Sequence=VSP_053765; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15361868, ECO:0000269|PubMed:15492225}. Nucleus {ECO:0000269|PubMed:21057262}.


uniprotID: Q969H8
geneSymbol: MYDGF
reactome: R-HSA-381038;
length: 173
go: ENSG00000074842;
snps: rs2270090
name:
Myeloid-derived growth factor (MYDGF) (Interleukin-25) (IL-25) (Stromal cell-derived growth factor SF20)

sequence:
MAAPSGGWNGVGASLWAALLLGAVALRPAEAVSEPTTVAFDVRPGGVVHSFSHNVGPGDKYTCMFTYASQGGTNEQWQMSLGTSEDHQHFTCTIWRPQGKSYLYFTQFKAEVRGAEIEYAMAYSKAAFERESDVPLKTEEFEVTKTAVAHRPGAFKAELSKLVIVAKASRTEL

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular space [GO:0005615]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of apoptotic process [GO:0043066]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17362502, ECO:0000269|PubMed:25581518}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:17362502}. Note=Secreted into blood plasma. {ECO:0000269|PubMed:25581518}.


uniprotID: Q9HB07
geneSymbol: C12orf10
name: UPF0160 protein MYG1, mitochondrial
length: 376
go: ENSG00000139637;
snps: rs1534282
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; locomotory exploration behavior [GO:0035641]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19014353}. Mitochondrion {ECO:0000269|PubMed:19014353}.


uniprotID: P02144
geneSymbol: MB
reactome: R-HSA-8981607;
pdb: 3RGK;
name: Myoglobin
length: 154
go: ENSG00000198125;
drug: DB02671;DB03385;DB02379;DB02073;DB03399;DB04337;DB02396;DB01826;DB04050;DB02646;DB01710;DB02528;
snps: rs145465287 rs766095327 rs142225854 rs767663245
sequence:
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; brown fat cell differentiation [GO:0050873]; enucleate erythrocyte differentiation [GO:0043353]; heart development [GO:0007507]; oxygen transport [GO:0015671]; response to hormone [GO:0009725]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; slow-twitch skeletal muscle fiber contraction [GO:0031444]


uniprotID: P35580
geneSymbol: MYH10
reactome: R-HSA-3928663;R-HSA-416572;R-HSA-5625740;R-HSA-5625900;R-HSA-5627117;R-HSA-5627123;
pdb: 4PD3;
length: 1976
go: ENSG00000133026;
snps: rs727504231
name:
Myosin-10 (Cellular myosin heavy chain, type B) (Myosin heavy chain 10) (Myosin heavy chain, non-muscle IIb) (Non-muscle myosin heavy chain B) (NMMHC-B) (Non-muscle myosin heavy chain IIb) (NMMHC II-b) (NMMHC-IIB)

sequence:

opentargets:
actomyosin [GO:0042641]; brush border [GO:0005903]; cell cortex [GO:0005938]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; midbody [GO:0030496]; myosin complex [GO:0016459]; myosin II complex [GO:0016460]; myosin II filament [GO:0097513]; neuromuscular junction [GO:0031594]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; polysome [GO:0005844]; spindle [GO:0005819]; stress fiber [GO:0001725]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin-dependent ATPase activity [GO:0030898]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; mRNA 5'-UTR binding [GO:0048027]; RNA stem-loop binding [GO:0035613]; actin filament-based movement [GO:0030048]; actomyosin structure organization [GO:0031032]; adult heart development [GO:0007512]; aorta development [GO:0035904]; axon guidance [GO:0007411]; cardiac myofibril assembly [GO:0055003]; cardiac septum development [GO:0003279]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; cerebellar Purkinje cell layer development [GO:0021680]; coronary vasculature development [GO:0060976]; exocytosis [GO:0006887]; fourth ventricle development [GO:0021592]; in utero embryonic development [GO:0001701]; lateral ventricle development [GO:0021670]; mitotic cytokinesis [GO:0000281]; modification of postsynaptic actin cytoskeleton [GO:0098885]; neuromuscular process controlling balance [GO:0050885]; neuron migration [GO:0001764]; nuclear migration [GO:0007097]; plasma membrane repair [GO:0001778]; positive regulation of protein secretion [GO:0050714]; postsynaptic actin cytoskeleton organization [GO:0098974]; regulation of cell shape [GO:0008360]; retina development in camera-type eye [GO:0060041]; substrate-dependent cell migration, cell extension [GO:0006930]; third ventricle development [GO:0021678]; ventricular cardiac muscle cell development [GO:0055015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P35580-1; Sequence=Displayed; Name=2; IsoId=P35580-2; Sequence=VSP_022013; Name=3; IsoId=P35580-3; Sequence=VSP_022014; Name=4; IsoId=P35580-4; Sequence=VSP_046033, VSP_022014; Note=No experimental confirmation available. {ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; Name=5; IsoId=P35580-5; Sequence=VSP_054974; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, lamellipodium {ECO:0000269|PubMed:20052411, ECO:0000269|PubMed:22480440}. Note=Colocalizes with MCC at the leading edge of migrating cells.


uniprotID: Q5SR56
geneSymbol: MFSD14B
length: 506
go: ENSG00000148110;
snps: rs17851857
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Hippocampus abundant transcript-like protein 1 (Major facilitator superfamily domain-containing 14B)

sequence:

opentargets:
integral component of membrane [GO:0016021]; transporter activity [GO:0005215]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SR56-1; Sequence=Displayed; Name=2; IsoId=Q5SR56-2; Sequence=VSP_056692, VSP_056693, VSP_056694; Note=No experimental confirmation available.; 


uniprotID: Q5VZR4
geneSymbol: MFSD14C
length: 150
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Hippocampus abundant transcript-like protein 2 (Major facilitator superfamily domain-containing 14C)

sequence:
MSVEPPPELEEKAASEPEAGAMPEKRAGAQAAGSTWLQGFGPPSVYHAAIVIFLEFFAWGLLTTPMLTVLHETFSQHTFLMNGLIQGVKGLLSFLSAPLIGALSDVWGRKPFLLGTVFFTCFPIPLMRISPCRVWWRAPVVPATCGRRMA


uniprotID: O75121
geneSymbol: MFAP3L
name: Microfibrillar-associated protein 3-like (Testis development protein NYD-SP9)
length: 409
go: ENSG00000198948;
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75121-1; Sequence=Displayed; Name=2; IsoId=O75121-2; Sequence=VSP_011100; Name=3; IsoId=O75121-3; Sequence=VSP_014094, VSP_014095; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24735981}; Single-pass type I membrane protein {ECO:0000305}. Nucleus {ECO:0000269|PubMed:24735981}. Cytoplasm {ECO:0000269|PubMed:24735981}. Note=Mainly localized in the nucleus (PubMed:24735981). {ECO:0000269|PubMed:24735981}.


uniprotID: Q6ZN04
geneSymbol: MEX3B
length: 569
go: ENSG00000183496;
name:
RNA-binding protein MEX3B (RING finger and KH domain-containing protein 3) (RING finger protein 195)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; P-body [GO:0000932]; calcium ion binding [GO:0005509]; RNA binding [GO:0003723]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZN04-1; Sequence=Displayed; Name=2; IsoId=Q6ZN04-3; Sequence=VSP_041891, VSP_041892; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18779327}. Cytoplasm {ECO:0000269|PubMed:18779327}. Cytoplasm, P-body {ECO:0000269|PubMed:18779327}. Cytoplasmic granule {ECO:0000269|PubMed:18779327}. Note=Predominantly expressed in the cytoplasm and shuttles between the cytoplasm and the nucleus through the CRM1 export pathway. Localization to P-bodies is dependent on 14-3-3.


uniprotID: P08581
geneSymbol: MET
length: 1390
go: ENSG00000105976;
drug: DB07969;DB08875;DB08865;DB02152;DB05216;DB06995;DB05153;
reactome:
R-HSA-1257604;R-HSA-2219530;R-HSA-416550;R-HSA-5673001;R-HSA-6806942;R-HSA-6807004;R-HSA-6811558;R-HSA-8851805;R-HSA-8851907;R-HSA-8865999;R-HSA-8874081;R-HSA-8875360;R-HSA-8875513;R-HSA-8875555;R-HSA-8875656;R-HSA-8875791;

pdb:
1FYR;1R0P;1R1W;1SHY;1SSL;1UX3;2G15;2RFN;2RFS;2UZX;2UZY;2WD1;2WGJ;2WKM;3A4P;3BUX;3C1X;3CCN;3CD8;3CE3;3CTH;3CTJ;3DKC;3DKF;3DKG;3EFJ;3EFK;3F66;3F82;3I5N;3L8V;3LQ8;3Q6U;3Q6W;3QTI;3R7O;3RHK;3U6H;3U6I;3VW8;3ZBX;3ZC5;3ZCL;3ZXZ;3ZZE;4AOI;4AP7;4DEG;4DEH;4DEI;4EEV;4GG5;4GG7;4IWD;4K3J;4KNB;4MXC;4O3T;4O3U;4R1V;4R1Y;4XMO;4XYF;5DG5;5EOB;5EYC;5EYD;5HLW;5HNI;5HO6;5HOA;5HOR;5HTI;5LSP;5T3Q;5UAB;5UAD;5UAF;5YA5;

name:
Hepatocyte growth factor receptor (HGF receptor) (EC 2.7.10.1) (HGF/SF receptor) (Proto-oncogene c-Met) (Scatter factor receptor) (SF receptor) (Tyrosine-protein kinase Met)

sequence:

opentargets:
basal plasma membrane [GO:0009925]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; hepatocyte growth factor-activated receptor activity [GO:0005008]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; Wnt-protein binding [GO:0017147]; branching morphogenesis of an epithelial tube [GO:0048754]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; endothelial cell morphogenesis [GO:0001886]; entry of bacterium into host cell [GO:0035635]; establishment of skin barrier [GO:0061436]; liver development [GO:0001889]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of guanyl-nucleotide exchange factor activity [GO:1905098]; negative regulation of hydrogen peroxide-mediated programmed cell death [GO:1901299]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of signal transduction [GO:0009968]; negative regulation of stress fiber assembly [GO:0051497]; negative regulation of thrombin-activated receptor signaling pathway [GO:0070495]; phagocytosis [GO:0006909]; positive chemotaxis [GO:0050918]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; semaphorin-plexin signaling pathway [GO:0071526]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

snps:
rs35469582 rs56311081 rs55985569 rs34349517 rs35225896 rs35776110 rs776693512 rs33917957 rs752055485 rs771333219 rs794728016 rs34589476 rs768678989 rs56391007 rs786202724 rs121913243 rs121913244 rs121913668 rs121913675 rs121913669 rs121913673 rs121913670 rs121913671 rs121913246 rs121913247 rs121913677 rs121913676 rs121913245 rs1263785859 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional soluble isoforms seem to exist.; Name=1; IsoId=P08581-1; Sequence=Displayed; Name=2; IsoId=P08581-2; Sequence=VSP_005005; Note=No experimental confirmation available.; Name=3; Synonyms=Soluble MET variant 4; IsoId=P08581-3; Sequence=VSP_042447, VSP_042448; 

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


uniprotID: P55082
geneSymbol: MFAP3
reactome: R-HSA-2129379;
name: Microfibril-associated glycoprotein 3
length: 362
go: ENSG00000037749;
snps: rs748271641
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55082-1; Sequence=Displayed; Name=2; IsoId=P55082-2; Sequence=VSP_042948; Note=No experimental confirmation available.; 

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


uniprotID: Q9BY79
geneSymbol: MFRP
name: Membrane frizzled-related protein (Membrane-type frizzled-related protein)
length: 579
go: ENSG00000235718;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; embryo development ending in birth or egg hatching [GO:0009792]; eye photoreceptor cell development [GO:0042462]; retina development in camera-type eye [GO:0060041]; visual perception [GO:0007601]

snps:
rs139436396 rs4639950 rs3814762 rs121908190 rs767183449 rs139725672 rs368172459 rs730882144 rs374823079 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BY79-1; Sequence=Displayed; Name=2; IsoId=Q9BY79-2; Sequence=VSP_055928, VSP_055929; Note=No experimental confirmation available.; 

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


uniprotID: Q9GZY8
geneSymbol: MFF
name: Mitochondrial fission factor
length: 342
go: ENSG00000168958;
snps: rs3211097 rs3211098
sequence:

opentargets:
cell junction [GO:0030054]; integral component of mitochondrial membrane [GO:0032592]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; synaptic vesicle [GO:0008021]; protein homodimerization activity [GO:0042803]; mitochondrial fission [GO:0000266]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mitochondrial fusion [GO:0008053]; mitochondrion morphogenesis [GO:0070584]; peroxisome fission [GO:0016559]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein homooligomerization [GO:0051260]; protein targeting to mitochondrion [GO:0006626]; regulation of mitochondrion organization [GO:0010821]; regulation of peroxisome organization [GO:1900063]; release of cytochrome c from mitochondria [GO:0001836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9GZY8-1; Sequence=Displayed; Name=2; IsoId=Q9GZY8-2; Sequence=VSP_025954, VSP_025957; Name=3; IsoId=Q9GZY8-3; Sequence=VSP_025954, VSP_025958; Name=4; IsoId=Q9GZY8-4; Sequence=VSP_025954, VSP_025955; Name=5; IsoId=Q9GZY8-5; Sequence=VSP_025954, VSP_025956; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass type IV membrane protein. Peroxisome. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250}.


uniprotID: Q6NUT3
geneSymbol: MFSD12
name: Major facilitator superfamily domain-containing protein 12
length: 480
go: ENSG00000161091;
opentargets: integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]
snps: rs2240751 rs34562175 rs10414812 rs34878396 rs7252640
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=Q6NUT3-1; Sequence=Displayed; Name=2; IsoId=Q6NUT3-2; Sequence=VSP_022779; Name=3; IsoId=Q6NUT3-3; Sequence=VSP_047665; Note=No experimental confirmation available.; Name=4; IsoId=Q6NUT3-4; Sequence=VSP_047666; Note=No experimental confirmation available.; 


uniprotID: A6NFX1
geneSymbol: MFSD2B
name: Major facilitator superfamily domain-containing protein 2B (hMfsd2b)
length: 504
go: ENSG00000205639;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; sphingolipid transporter activity [GO:0046624]; lipid transport [GO:0006869]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29045386}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to the cell membrane and intracellular membranes. {ECO:0000269|PubMed:29045386}.


uniprotID: Q9H3U5
geneSymbol: MFSD1
length: 465
go: ENSG00000118855;
opentargets: integral component of membrane [GO:0016021]; transmembrane transport [GO:0055085]
snps: rs28364680 rs17854200 rs3765083 rs11551240
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Major facilitator superfamily domain-containing protein 1 (Smooth muscle cell-associated protein 4) (SMAP-4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9H3U5-1; Sequence=Displayed; Name=2; IsoId=Q9H3U5-2; Sequence=VSP_022537, VSP_022538; 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=Q9H3U5-3; Sequence=VSP_037579; Name=4; IsoId=Q9H3U5-4; Sequence=VSP_037578; Name=5; IsoId=Q9H3U5-5; Sequence=VSP_047667, VSP_047668; Name=6; IsoId=Q9H3U5-6; Sequence=VSP_047667; 


uniprotID: P26572
geneSymbol: MGAT1
reactome: R-HSA-964739;
length: 445
go: ENSG00000131446;
drug: DB03397;
snps: rs7726005 rs634501
name:
Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (EC 2.4.1.101) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I) (GNT-I) (GlcNAc-T I)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; acetylglucosaminyltransferase activity [GO:0008375]; alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity [GO:0003827]; metal ion binding [GO:0046872]; carbohydrate metabolic process [GO:0005975]; in utero embryonic development [GO:0001701]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]; UDP-N-acetylglucosamine catabolic process [GO:0006049]

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


uniprotID: Q09327
geneSymbol: MGAT3
reactome: R-HSA-975574;
length: 533
go: ENSG00000128268;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase (EC 2.4.1.144) (N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III) (GNT-III) (GlcNAc-T III) (N-acetylglucosaminyltransferase III)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity [GO:0003830]; transferase activity, transferring glycosyl groups [GO:0016757]; N-acetylglucosamine metabolic process [GO:0006044]; protein N-linked glycosylation [GO:0006487]


uniprotID: P13535
geneSymbol: MYH8
reactome: R-HSA-390522;
name: Myosin-8 (Myosin heavy chain 8) (Myosin heavy chain, skeletal muscle, perinatal) (MyHC-perinatal)
length: 1937
go: ENSG00000133020;
snps: rs34124921 rs34693726 rs121434590 rs4372733 rs35962914 rs1063926 rs8069834
location: SUBCELLULAR LOCATION: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; muscle myosin complex [GO:0005859]; myosin filament [GO:0032982]; sarcomere [GO:0030017]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calmodulin binding [GO:0005516]; microfilament motor activity [GO:0000146]; myosin light chain binding [GO:0032027]; myosin phosphatase activity [GO:0017018]; structural constituent of muscle [GO:0008307]; ATP metabolic process [GO:0046034]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; skeletal muscle contraction [GO:0003009]


uniprotID: Q2M2H8
geneSymbol: MGAM2
length: 2515
go: ENSG00000257743;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Probable maltase-glucoamylase 2 (Maltase-glucoamylase (alpha-glucosidase) pseudogene) [Includes: Glucoamylase (EC 3.2.1.3) (Glucan 1,4-alpha-glucosidase)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; glucan 1,4-alpha-glucosidase activity [GO:0004339]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2M2H8-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=Q2M2H8-3; Sequence=VSP_055415, VSP_055416; 


uniprotID: P05976
geneSymbol: MYL1
reactome: R-HSA-390522;
length: 194
go: ENSG00000168530;
name:
Myosin light chain 1/3, skeletal muscle isoform (MLC1/MLC3) (MLC1F/MLC3F) (Myosin light chain alkali 1/2) (Myosin light chain A1/A2)

sequence:
MAPKKDVKKPVAAAAAAPAPAPAPAPAPAPAKPKEEKIDLSAIKIEFSKEQQDEFKEAFLLFDRTGDSKITLSQVGDVLRALGTNPTNAEVRKVLGNPSNEELNAKKIEFEQFLPMMQAISNNKDQATYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGEKMKEEEVEALMAGQEDSNGCINYEAFVKHIMSI

opentargets:
cytosol [GO:0005829]; muscle myosin complex [GO:0005859]; myofibril [GO:0030016]; sarcomere [GO:0030017]; calcium ion binding [GO:0005509]; structural constituent of muscle [GO:0008307]; cardiac muscle contraction [GO:0060048]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=MLC1; IsoId=P05976-1; Sequence=Displayed; Name=MLC3; IsoId=P05976-2, P06741-1; Sequence=VSP_038686; 


uniprotID: P08590
geneSymbol: MYL3
reactome: R-HSA-390522;
pdb: 5TBY;
length: 195
go: ENSG00000160808;
snps: rs199474702 rs104893750 rs104893748 rs104893749 rs193922391
name:
Myosin light chain 3 (Cardiac myosin light chain 1) (CMLC1) (Myosin light chain 1, slow-twitch muscle B/ventricular isoform) (MLC1SB) (Ventricular myosin alkali light chain) (Ventricular myosin light chain 1) (VLCl) (Ventricular/slow twitch myosin alkali light chain) (MLC-lV/sb)

sequence:
MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFMLFDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQHISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSNGCINYEAFVKHIMSS

opentargets:
A band [GO:0031672]; cytosol [GO:0005829]; I band [GO:0031674]; muscle myosin complex [GO:0005859]; sarcomere [GO:0030017]; actin monomer binding [GO:0003785]; calcium ion binding [GO:0005509]; motor activity [GO:0003774]; myosin II heavy chain binding [GO:0032038]; structural constituent of muscle [GO:0008307]; cardiac muscle contraction [GO:0060048]; muscle filament sliding [GO:0030049]; positive regulation of ATPase activity [GO:0032781]; regulation of striated muscle contraction [GO:0006942]; regulation of the force of heart contraction [GO:0002026]; skeletal muscle tissue development [GO:0007519]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]


