# annotation

uniprotID: Q99685
geneSymbol: MGLL
reactome: R-HSA-1482883;R-HSA-163560;R-HSA-426048;
pdb: 3HJU;3JW8;3JWE;3PE6;4UUQ;6AX1;6BQ0;
length: 303
go: ENSG00000074416;
name:
Monoglyceride lipase (MGL) (EC 3.1.1.23) (HU-K5) (Lysophospholipase homolog) (Lysophospholipase-like) (Monoacylglycerol lipase) (MAGL)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extrinsic component of membrane [GO:0019898]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; acylglycerol lipase activity [GO:0047372]; lysophospholipase activity [GO:0004622]; protein homodimerization activity [GO:0042803]; acylglycerol acyl-chain remodeling [GO:0036155]; acylglycerol catabolic process [GO:0046464]; arachidonic acid metabolic process [GO:0019369]; fatty acid biosynthetic process [GO:0006633]; inflammatory response [GO:0006954]; lipid metabolic process [GO:0006629]; regulation of endocannabinoid signaling pathway [GO:2000124]; regulation of inflammatory response [GO:0050727]; regulation of sensory perception of pain [GO:0051930]; regulation of signal transduction [GO:0009966]; triglyceride catabolic process [GO:0019433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99685-1; Sequence=Displayed; Name=2; IsoId=Q99685-2; Sequence=VSP_045138, VSP_045139; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:O35678}. Membrane {ECO:0000250|UniProtKB:O35678}; Peripheral membrane protein {ECO:0000250|UniProtKB:O35678}.


uniprotID: P12829
geneSymbol: MYL4
reactome: R-HSA-390522;
length: 197
go: ENSG00000198336;
snps: rs886037778 rs16941677
name:
Myosin light chain 4 (Myosin light chain 1, embryonic muscle/atrial isoform) (Myosin light chain alkali GT-1 isoform)

sequence:
MAPKKPEPKKEAAKPAPAPAPAPAPAPAPAPEAPKEPAFDPKSVKIDFTADQIEEFKEAFSLFDRTPTGEMKITYGQCGDVLRALGQNPTNAEVLRVLGKPKPEEMNVKMLDFETFLPILQHISRNKEQGTYEDFVEGLRVFDKESNGTVMGAELRHVLATLGEKMTEAEVEQLLAGQEDANGCINYEAFVKHIMSG

opentargets:
A band [GO:0031672]; cytosol [GO:0005829]; myosin complex [GO:0016459]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; calcium ion binding [GO:0005509]; myosin II heavy chain binding [GO:0032038]; cardiac muscle contraction [GO:0060048]; muscle filament sliding [GO:0030049]; positive regulation of ATPase activity [GO:0032781]; regulation of the force of heart contraction [GO:0002026]


uniprotID: A9UHW6
geneSymbol: MIF4GD
name: MIF4G domain-containing protein (SLBP-interacting protein 1) (hSLIP1)
length: 222
go: ENSG00000125457;
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; protein C-terminus binding [GO:0008022]; RNA binding [GO:0003723]; translation activator activity [GO:0008494]; regulation of translational initiation [GO:0006446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A9UHW6-1; Sequence=Displayed; Name=2; IsoId=A9UHW6-2; Sequence=VSP_033877; Name=3; IsoId=A9UHW6-3; Sequence=VSP_047408; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18025107}. Nucleus {ECO:0000269|PubMed:18025107}.


uniprotID: Q9UBF9
geneSymbol: MYOT
pdb: 2KDG;2KKQ;
length: 498
go: ENSG00000120729;
snps: rs34717730 rs28937597 rs6890689
name:
Myotilin (57 kDa cytoskeletal protein) (Myofibrillar titin-like Ig domains protein) (Titin immunoglobulin domain protein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; axon [GO:0030424]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; actin binding [GO:0003779]; alpha-actinin binding [GO:0051393]; axon guidance receptor activity [GO:0008046]; structural constituent of muscle [GO:0008307]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; muscle contraction [GO:0006936]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBF9-1; Sequence=Displayed; Name=2; IsoId=Q9UBF9-2; Sequence=VSP_041450; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000269|PubMed:10369880}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10369880}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:16076904}. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269|PubMed:10369880, ECO:0000269|PubMed:16076904}.


uniprotID: Q9NP98
geneSymbol: MYOZ1
name: Myozenin-1 (Calsarcin-2) (Filamin-, actinin- and telethonin-binding protein) (Protein FATZ)
length: 299
go: ENSG00000177791;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; nucleus [GO:0005634]; pseudopodium [GO:0031143]; Z disc [GO:0030018]; actin binding [GO:0003779]; FATZ binding [GO:0051373]; telethonin binding [GO:0031433]; myofibril assembly [GO:0030239]

location:
SUBCELLULAR LOCATION: Nucleus. Cell projection, pseudopodium. Note=Localized to the nucleus and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2, FLNC and MYOT at the Z-lines of skeletal muscle.


uniprotID: Q9NPC6
geneSymbol: MYOZ2
name: Myozenin-2 (Calsarcin-1) (FATZ-related protein 2)
length: 264
go: ENSG00000172399;
snps: rs199476398 rs140126678
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; sarcomere [GO:0030017]; Z disc [GO:0030018]; actin binding [GO:0003779]; FATZ binding [GO:0051373]; protein phosphatase 2B binding [GO:0030346]; telethonin binding [GO:0031433]

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle. {ECO:0000250}.


uniprotID: Q8TDC0
geneSymbol: MYOZ3
name: Myozenin-3 (Calsarcin-3) (FATZ-related protein 3)
length: 251
go: ENSG00000164591;
snps: rs194134 rs7737542
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Z disc [GO:0030018]; actin binding [GO:0003779]; FATZ binding [GO:0051373]; telethonin binding [GO:0031433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11842093}; IsoId=Q8TDC0-1; Sequence=Displayed; Name=2 {ECO:0000269|Ref.2}; IsoId=Q8TDC0-2; Sequence=VSP_051879; Name=3 {ECO:0000269|Ref.2}; IsoId=Q8TDC0-3; Sequence=VSP_051876, VSP_051877, VSP_051878; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}. Note=Localized at the Z-line of skeletal muscle. {ECO:0000250}.


uniprotID: Q14896
geneSymbol: MYBPC3
reactome: R-HSA-390522;
pdb: 1GXE;1PD6;2AVG;2K1M;2MQ0;2MQ3;2V6H;3CX2;5K6P;
name: Myosin-binding protein C, cardiac-type (Cardiac MyBP-C) (C-protein, cardiac muscle isoform)
length: 1274
go: ENSG00000134571;
sequence:

opentargets:
A band [GO:0031672]; C zone [GO:0014705]; cardiac myofibril [GO:0097512]; cytosol [GO:0005829]; 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]; ATPase activator activity [GO:0001671]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; muscle alpha-actinin binding [GO:0051371]; myosin binding [GO:0017022]; myosin heavy chain binding [GO:0032036]; structural constituent of muscle [GO:0008307]; titin binding [GO:0031432]; cardiac muscle contraction [GO:0060048]; cardiac muscle fiber development [GO:0048739]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; cell adhesion [GO:0007155]; heart morphogenesis [GO:0003007]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; positive regulation of ATPase activity [GO:0032781]; regulation of muscle filament sliding [GO:0032971]; regulation of striated muscle contraction [GO:0006942]; sarcomere organization [GO:0045214]; skeletal muscle myosin thick filament assembly [GO:0030241]; skeletal muscle thin filament assembly [GO:0030240]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]

snps:
rs201278114 rs121909375 rs730880615 rs3729986 rs11570052 rs397516068 rs369300885 rs3729989 rs397516070 rs1444087775 rs397516074 rs373730381 rs397516075 rs376461745 rs147315081 rs375774648 rs11570060 rs727504234 rs34580776 rs573916965 rs730880709 rs1460895809 rs11570076 rs11570077 rs371513491 rs374255707 rs200625851 rs397514752 rs397515905 rs200411226 rs397515907 rs375882485 rs35736435 rs11570082 rs121909374 rs377163678 rs730880694 rs730880695 rs376736293 rs1352376969 rs1800565 rs727503191 rs397515956 rs1060501474 rs36211723 rs371488302 rs187830361 rs375675796 rs2856655 rs199865688 rs3729952 rs752007810 rs371401403 rs371401403 rs35078470 rs121909376 rs193922380 rs376504548 rs11570112 rs727503177 rs727504235 rs3729799 rs397516002 rs371061770 rs11570113 rs1393559112 rs531189495 rs370890951 rs187705120 rs397516026 rs202147520 rs727503167 rs397514751 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14896-1; Sequence=Displayed; Name=2; IsoId=Q14896-2; Sequence=VSP_047141; 


uniprotID: Q01538
geneSymbol: MYT1
length: 1121
go: ENSG00000196132;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Myelin transcription factor 1 (MyT1) (Myelin transcription factor I) (MyTI) (PLPB1) (Proteolipid protein-binding protein)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; 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]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01538-1; Sequence=Displayed; Name=2; IsoId=Q01538-2; Sequence=VSP_054313; 


uniprotID: P0CAP1
geneSymbol: MYZAP
pdb: 2KXS;
name: Myocardial zonula adherens protein (GRINL1A upstream protein) (Gup)
length: 466
go: ENSG00000137878;ENSG00000263155;
snps: rs16977629
sequence:

opentargets:
cell junction [GO:0030054]; cortical actin cytoskeleton [GO:0030864]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; I band [GO:0031674]; intracellular [GO:0005622]; Z disc [GO:0030018]; intracellular signal transduction [GO:0035556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Gcom8, Gup1; IsoId=P0CAP1-1; Sequence=Displayed; Name=2; Synonyms=Gcom2; IsoId=P0CAP1-2; Sequence=VSP_037398; Name=3; Synonyms=Gcom13; IsoId=P0CAP1-3; Sequence=VSP_037390; Name=4; Synonyms=Gcom9, Gup2; IsoId=P0CAP1-4; Sequence=VSP_037392; Name=5; Synonyms=Gcom10; IsoId=P0CAP1-5; Sequence=VSP_037393; Name=6; Synonyms=Gcom3; IsoId=P0CAP1-6; Sequence=VSP_037394; Name=7; Synonyms=Gcom4; IsoId=P0CAP1-7; Sequence=VSP_037395; Name=8; Synonyms=Gcom5; IsoId=P0CAP1-8; Sequence=VSP_037391; Name=9; Synonyms=Gcom6; IsoId=P0CAP1-9; Sequence=VSP_037390, VSP_037392, VSP_037396; Name=10; Synonyms=Gcom11; IsoId=P0CAP1-10; Sequence=VSP_037389; Name=11; Synonyms=Gcom1, GRINL1A complex locus protein 1; IsoId=P0CAP1-11; Sequence=VSP_037397; Note=Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q5EB94}. Cell membrane {ECO:0000250|UniProtKB:Q5EB94}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q5EB94}; Cytoplasmic side {ECO:0000250|UniProtKB:Q5EB94}. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250|UniProtKB:Q5EB94}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:Q5EB94}. Cell junction {ECO:0000269|PubMed:18849881, ECO:0000269|PubMed:21240187}. Note=Detected predominantly at the intercalated disk in cardiomyocytes, and at low levels on sarcomeric Z disks. Colocalizes with F-actin. Colocalizes with cortical actin. {ECO:0000250|UniProtKB:Q5EB94}.


uniprotID: Q8WU39
geneSymbol: MZB1
length: 189
go: ENSG00000170476;
name:
Marginal zone B- and B1-cell-specific protein (Mesenteric estrogen-dependent adipose 7) (MEDA-7) (Plasma cell-induced resident endoplasmic reticulum protein) (Plasma cell-induced resident ER protein) (pERp1) (Proapoptotic caspase adapter protein)

sequence:
MRLSLPLLLLLLGAWAIPGGLGDRAPLTATAPQLDDEEMYSAHMPAHLRCDACRAVAYQMWQNLAKAETKLHTSNSGGRRELSELVYTDVLDRSCSRNWQDYGVREVDQVKRLTGPGLSEGPEPSISVMVTGGPWPTRLSRTCLHYLGEFGEDQIYEAHQQGRGALEALLCGGPQGACSEKVSATREEL

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; apoptotic process [GO:0006915]; integrin activation [GO:0033622]; positive regulation of cell proliferation [GO:0008284]; positive regulation of immunoglobulin biosynthetic process [GO:0002642]; regulation of B cell proliferation [GO:0030888]; regulation of cell proliferation [GO:0042127]; regulation of insulin receptor signaling pathway [GO:0046626]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WU39-1; Sequence=Displayed; Note=Major.; Name=2; IsoId=Q8WU39-2; Sequence=VSP_031281; Name=3; IsoId=Q8WU39-3; Sequence=VSP_031280, VSP_038332; Name=4; IsoId=Q8WU39-4; Sequence=VSP_038333, VSP_038334; Name=5; IsoId=Q8WU39-5; Sequence=VSP_039073, VSP_039074; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum lumen {ECO:0000269|PubMed:19805157}. Secreted {ECO:0000269|PubMed:21688198}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:11350957}. Note=Diffuse granular localization in the cytoplasm surrounding the nucleus (PubMed:11350957).


uniprotID: P28698
geneSymbol: MZF1
pdb: 2FI2;
length: 734
go: ENSG00000099326;
snps: rs3752109 rs3752110 rs3752111 rs4756 rs2229255
location: SUBCELLULAR LOCATION: Nucleus.
name:
Myeloid zinc finger 1 (MZF-1) (Zinc finger and SCAN domain-containing protein 6) (Zinc finger protein 42)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=MZF1A; Synonyms=MZF1B; IsoId=P28698-1; Sequence=Displayed; Name=MZF1B-C; IsoId=P28698-2; Sequence=VSP_006889, VSP_006890; Name=3; IsoId=P28698-3; Sequence=VSP_047013, VSP_047014; 


uniprotID: Q6NZ67
geneSymbol: MZT2B
reactome: R-HSA-380270;R-HSA-380320;
length: 158
go: ENSG00000152082;
snps: rs1043059 rs1043152
name:
Mitotic-spindle organizing protein 2B (Mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B)

sequence:
MAAQGVGPGPGSAAPPGLEAARQKLALRRKKVLSTEEMELYELAQAAGGAIDPDVFKILVDLLKLNVAPLAVFQMLKSMCAGQRLASEPQDPAAVSLPTSSVPETRGRNKGSAALGGALALAERSSREGSSQRMPRQPSATRLPKGGGPGKSPTRGST

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 {ECO:0000269|PubMed:20360068}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20360068}.


uniprotID: Q92802
geneSymbol: N4BP2L2
name: NEDD4-binding protein 2-like 2 (Phosphonoformate immuno-associated protein 5)
length: 583
go: ENSG00000244754;
snps: rs34062461
sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; enzyme binding [GO:0019899]; transcription corepressor activity [GO:0003714]; negative regulation of hematopoietic stem cell differentiation [GO:1902037]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of hematopoietic stem cell proliferation [GO:1902035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92802-1; Sequence=Displayed; Name=2; IsoId=Q92802-2; Sequence=VSP_027518; Note=No experimental confirmation available.; Name=3; IsoId=Q92802-3; Sequence=VSP_041337, VSP_041338, VSP_041339; 


uniprotID: O75113
geneSymbol: N4BP1
name: NEDD4-binding protein 1 (N4BP1)
length: 896
go: ENSG00000102921;
sequence:

opentargets:
nucleolus [GO:0005730]; PML body [GO:0016605]; cellular response to UV [GO:0034644]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein ubiquitination [GO:0031397]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}. Nucleus, PML body {ECO:0000250}. Note=Primarily localizes to the nucleolus. Also localizes to the PML nuclear bodies, when desumoylated (By similarity). {ECO:0000250}.


uniprotID: Q86UW6
geneSymbol: N4BP2
pdb: 2D9I;2VKC;3BHB;3FAU;
name: NEDD4-binding protein 2 (N4BP2) (EC 3.-.-.-) (BCL-3-binding protein)
length: 1770
go: ENSG00000078177;
snps: rs17511668 rs10014170 rs794001 rs2271395
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity [GO:0046404]; endonuclease activity [GO:0004519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UW6-1; Sequence=Displayed; Name=2; IsoId=Q86UW6-2; Sequence=VSP_009721; Note=No experimental confirmation available.; 


uniprotID: Q9H1M0
geneSymbol: NUP62CL
name: Nucleoporin-62 C-terminal-like protein
length: 184
go: ENSG00000198088;
snps: rs16987290 rs1298577
sequence:
MQFTSISNSLTSTAAIGLSFTTSTTTTATFTTNTTTTITSGFTVNQNQLLSRGFENLVPYTSTVSVVATPVMTYGHLEGLINEWNLELEDQEKYFLLQATQVNAWDHTLIENGEMIRILHGEVNKVKLDQKRLEQELDFILSQQQELEFLLTYLEESTRDQSGLHYLQDADEEHVEISTRSAEF

opentargets:
nuclear pore [GO:0005643]; structural constituent of nuclear pore [GO:0017056]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H1M0-1; Sequence=Displayed; Name=2; IsoId=Q9H1M0-2; Sequence=VSP_021367, VSP_021368; 


uniprotID: Q5TGZ0
geneSymbol: MINOS1
reactome: R-HSA-8949613;
name: MICOS complex subunit MIC10 (Mitochondrial inner membrane organizing system protein 1)
sequence: MSESELGRKWDRCLADAVVKIGTGFGLGIVFSLTFFKRRMWPLAFGSGMGLGMAYSNCQHDFQAPYLLHGKYVKEQEQ
length: 78
opentargets: MICOS complex [GO:0061617]; mitochondrion [GO:0005739]
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TGZ0-1; Sequence=Displayed; Name=2; IsoId=Q5TGZ0-2; Sequence=VSP_042062, VSP_042063; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:22114354}; Single-pass membrane protein {ECO:0000269|PubMed:22114354}. Note=The C-terminus is located in the intermembrane space (By similarity), while the location of the N-terminus has not been determined yet. As some programs predict the presence of 2 closely apposed membrane domains, it has been proposed that the protein may cross the membrane twice and that both termini may face the intermembrane space (PubMed:22114354). {ECO:0000250, ECO:0000269|PubMed:22114354}.


uniprotID: Q5XKP0
geneSymbol: MIC13
reactome: R-HSA-8949613;
name: MICOS complex subunit MIC13 (Protein P117)
length: 118
go: ENSG00000174917;
sequence:
MVARVWSLMRFLIKGSVAGGAVYLVYDQELLGPSDKSQAALQKAGEVVPPAMYQFSQYVCQQTGLQIPQLPAPPKIYFPIRDSWNAGIMTVMSALSVAPSKAREYSKEGWEYVKARTK

opentargets:
MICOS complex [GO:0061617]; mitochondrial crista junction [GO:0044284]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; cristae formation [GO:0042407]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:25997101}; Single-pass membrane protein {ECO:0000255}. Note=Enriched at crista junctions. {ECO:0000269|PubMed:25997101}.


uniprotID: Q96BF6
geneSymbol: NACC2
length: 587
go: ENSG00000148411;
name:
Nucleus accumbens-associated protein 2 (NAC-2) (BTB/POZ domain-containing protein 14A) (Repressor with BTB domain and BEN domain)

sequence:

opentargets:
mitochondrion [GO:0005739]; nuclear body [GO:0016604]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleus [GO:0005634]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular protein-containing complex localization [GO:0034629]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter [GO:1900477]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902231]; posttranscriptional regulation of gene expression [GO:0010608]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22926524}. Note=Predominantly associated with chromatin.


uniprotID: Q9BRQ6
geneSymbol: CHCHD6
reactome: R-HSA-8949613;
length: 235
go: ENSG00000159685;
snps: rs2272487
name:
MICOS complex subunit MIC25 (Coiled-coil-helix cristae morphology protein 1) (Coiled-coil-helix-coiled-coil-helix domain-containing protein 6)

sequence:

opentargets:
cytosol [GO:0005829]; MICOS complex [GO:0061617]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; cellular response to DNA damage stimulus [GO:0006974]; cristae formation [GO:0042407]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:22228767}; Lipid-anchor {ECO:0000305|PubMed:22228767}. Mitochondrion {ECO:0000269|PubMed:25781180, ECO:0000269|PubMed:25997101}.


uniprotID: Q8TC71
geneSymbol: SPATA18
name: Mitochondria-eating protein (Spermatogenesis-associated protein 18)
length: 538
go: ENSG00000163071;
snps: rs3860707 rs11558773
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial outer membrane [GO:0005741]; cellular response to DNA damage stimulus [GO:0006974]; mitochondrial protein catabolic process [GO:0035694]; mitophagy by induced vacuole formation [GO:0035695]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha, Mieap-alpha; IsoId=Q8TC71-1; Sequence=Displayed; Name=2; Synonyms=Beta, Mieap-beta; IsoId=Q8TC71-2; Sequence=VSP_041048; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21264228, ECO:0000269|PubMed:22292033}. Mitochondrion outer membrane {ECO:0000269|PubMed:21264228, ECO:0000269|PubMed:22292033}. Note=Localizes to the cytoplasm under normal conditions (PubMed:21264228). Relocalizes to mitochondrion outer membrane following cellular stress. Colocalizes with BNIP3 and BNIP3L at the mitochondrion outer membrane (PubMed:22292033). {ECO:0000269|PubMed:21264228, ECO:0000269|PubMed:22292033}.


uniprotID: Q29983
geneSymbol: MICA
reactome: R-HSA-198933;
pdb: 1B3J;1HYR;
name: MHC class I polypeptide-related sequence A (MIC-A)
length: 383
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; natural killer cell lectin-like receptor binding [GO:0046703]; cellular response to DNA damage stimulus [GO:0006974]; cytolysis [GO:0019835]; defense response to bacterium [GO:0042742]; defense response to virus [GO:0051607]; gamma-delta T cell activation [GO:0046629]; immune response [GO:0006955]; immune response to tumor cell [GO:0002418]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; negative regulation of natural killer cell activation [GO:0032815]; negative regulation of natural killer cell mediated cytotoxicity [GO:0045953]; regulation of immune response [GO:0050776]; response to heat [GO:0009408]; susceptibility to natural killer cell mediated cytotoxicity [GO:0042271]; T cell mediated cytotoxicity [GO:0001913]; viral process [GO:0016032]

snps:
rs9380254 rs1063630 rs1051785 rs17200158 rs1051786 rs41558312 rs41557113 rs41556715 rs1051790 rs41539919 rs1051791 rs1051792 rs3819269 rs41560824 rs3819268 rs1051794 rs1131896 rs41549718 rs1131897 rs1131898 rs41546915 rs1051798 rs1140700 rs1051799 rs41540613 rs72558175 rs1063635 rs41557614 rs61759927 rs41553616 rs72558178 rs41554412 rs41546114 rs9266825 rs41545814 rs1882 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12466900}; Synonyms=MICA1 {ECO:0000269|PubMed:12466900}; IsoId=Q29983-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12466900}; Synonyms=MICA2 {ECO:0000269|PubMed:12466900}; IsoId=Q29983-2; Sequence=VSP_055366; Note=Found in about 10% of examined clones.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10363723, ECO:0000269|PubMed:18287244, ECO:0000269|PubMed:8901601}; Single-pass type I membrane protein {ECO:0000269|PubMed:10363723, ECO:0000269|PubMed:18287244, ECO:0000269|PubMed:8901601}. Cytoplasm {ECO:0000269|PubMed:10363723, ECO:0000269|PubMed:18287244, ECO:0000269|PubMed:8901601}. Note=Expressed on the cell surface in gastric epithelium, endothelial cells and fibroblasts and in the cytoplasm in keratinocytes and monocytes. Infection with human adenovirus 5 suppresses cell surface expression due to the adenoviral E3-19K protein which causes retention in the endoplasmic reticulum. {ECO:0000269|PubMed:10363723, ECO:0000269|PubMed:18287244, ECO:0000269|PubMed:8901601}.


uniprotID: Q8N344
geneSymbol: MIER2
name: Mesoderm induction early response protein 2 (Mi-er2)
length: 545
go: ENSG00000105556;
snps: rs7507468 rs10421231 rs148482834 rs34129568 rs35042658
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase 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]

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


uniprotID: Q9BPX6
geneSymbol: MICU1
reactome: R-HSA-8949215;R-HSA-8949664;
pdb: 4NSC;4NSD;
length: 476
go: ENSG00000107745;
name:
Calcium uptake protein 1, mitochondrial (Atopy-related autoantigen CALC) (ara CALC) (Calcium-binding atopy-related autoantigen 1) (allergen Hom s 4)

sequence:

opentargets:
calcium channel complex [GO:0034704]; integral component of mitochondrial membrane [GO:0032592]; intracellular [GO:0005622]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; uniplex complex [GO:1990246]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; calcium import into the mitochondrion [GO:0036444]; calcium ion import [GO:0070509]; defense response [GO:0006952]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BPX6-1; Sequence=Displayed; Name=2; IsoId=Q9BPX6-2; Sequence=VSP_031980, VSP_031981; Note=No experimental confirmation available.; Name=3; IsoId=Q9BPX6-3; Sequence=VSP_031979; Note=No experimental confirmation available.; Name=4; IsoId=Q9BPX6-4; Sequence=VSP_039890, VSP_039891; Note=No experimental confirmation available.; Name=5; IsoId=Q9BPX6-5; Sequence=VSP_039890, VSP_039892; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:20693986, ECO:0000269|PubMed:24332854, ECO:0000269|PubMed:26387864, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988, ECO:0000305|PubMed:24231807}; Single-pass membrane protein {ECO:0000255}. Mitochondrion intermembrane space {ECO:0000269|PubMed:23747253, ECO:0000269|PubMed:24560927, ECO:0000269|PubMed:26387864}.


uniprotID: Q9UNW1
geneSymbol: MINPP1
reactome: R-HSA-1855231;
length: 487
go: ENSG00000107789;
snps: rs119486096 rs104894171
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000250|UniProtKB:O35217}.
name:
Multiple inositol polyphosphate phosphatase 1 (EC 3.1.3.62) (2,3-bisphosphoglycerate 3-phosphatase) (2,3-BPG phosphatase) (EC 3.1.3.80) (Inositol (1,3,4,5)-tetrakisphosphate 3-phosphatase) (Ins(1,3,4,5)P(4) 3-phosphatase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; acid phosphatase activity [GO:0003993]; bisphosphoglycerate 3-phosphatase activity [GO:0034417]; inositol hexakisphosphate 2-phosphatase activity [GO:0052826]; inositol phosphate phosphatase activity [GO:0052745]; inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity [GO:0030351]; inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity [GO:0051717]; protein histidine phosphatase activity [GO:0101006]; bone mineralization [GO:0030282]; inositol phosphate metabolic process [GO:0043647]; ossification [GO:0001503]; polyphosphate metabolic process [GO:0006797]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UNW1-1; Sequence=Displayed; Name=2; IsoId=Q9UNW1-2; Sequence=VSP_014552, VSP_014555; Note=No experimental confirmation available.; Name=3; IsoId=Q9UNW1-3; Sequence=VSP_014553, VSP_014554; Note=No experimental confirmation available.; Name=4; IsoId=Q9UNW1-4; Sequence=VSP_044569; Note=No experimental confirmation available.; 


uniprotID: Q9NXC5
geneSymbol: MIOS
name: GATOR complex protein MIOS (Missing oocyte meiosis regulator homolog)
length: 875
go: ENSG00000164654;
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}.
sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; GATOR2 complex [GO:0061700]; lysosomal membrane [GO:0005765]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cellular protein-containing complex localization [GO:0034629]; cellular response to amino acid starvation [GO:0034198]; positive regulation of TOR signaling [GO:0032008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXC5-1; Sequence=Displayed; Name=2; IsoId=Q9NXC5-2; Sequence=VSP_032979, VSP_032980; 


uniprotID: Q8NBR6
geneSymbol: MINDY2
length: 621
go: ENSG00000128923;
name:
Ubiquitin carboxyl-terminal hydrolase MINDY-2 (EC 3.4.19.12) (Deubiquitinating enzyme MINDY-2) (Protein FAM63B)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; cysteine-type carboxypeptidase activity [GO:0016807]; K11-linked polyubiquitin modification-dependent protein binding [GO:0071795]; K48-linked polyubiquitin modification-dependent protein binding [GO:0036435]; K6-linked polyubiquitin modification-dependent protein binding [GO:0071796]; K63-linked polyubiquitin modification-dependent protein binding [GO:0070530]; Lys48-specific deubiquitinase activity [GO:1990380]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; protein K48-linked deubiquitination [GO:0071108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBR6-1; Sequence=Displayed; Name=2; IsoId=Q8NBR6-2; Sequence=VSP_034719; 


uniprotID: Q15274
geneSymbol: QPRT
reactome: R-HSA-196807;
pdb: 2JBM;4KWV;4KWW;5AYX;5AYY;5AYZ;
length: 297
go: ENSG00000103485;
drug: DB00627;
snps: rs2303255 rs9932770
name:
Nicotinate-nucleotide pyrophosphorylase [carboxylating] (EC 2.4.2.19) (Quinolinate phosphoribosyltransferase [decarboxylating]) (QAPRTase) (QPRTase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nicotinate-nucleotide diphosphorylase (carboxylating) activity [GO:0004514]; protein homodimerization activity [GO:0042803]; NAD biosynthetic process [GO:0009435]; NAD metabolic process [GO:0019674]; protein complex oligomerization [GO:0051259]; quinolinate catabolic process [GO:0034213]


uniprotID: Q8TDR0
geneSymbol: TRAF3IP1
reactome: R-HSA-5620924;
pdb: 2EQO;
length: 691
go: ENSG00000204104;
snps: rs886037896 rs886037898 rs3769110 rs34723381 rs12464423 rs58277463 rs750055952 rs3739070
name:
TRAF3-interacting protein 1 (Interleukin-13 receptor alpha 1-binding protein 1) (Intraflagellar transport protein 54 homolog) (Microtubule-interacting protein associated with TRAF3) (MIP-T3)

sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; ciliary transition zone [GO:0035869]; cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; microtubule binding [GO:0008017]; embryonic camera-type eye development [GO:0031076]; embryonic digit morphogenesis [GO:0042733]; embryonic heart tube development [GO:0035050]; intraciliary transport [GO:0042073]; intraciliary transport involved in cilium assembly [GO:0035735]; kidney development [GO:0001822]; morphogenesis of a polarized epithelium [GO:0001738]; negative regulation of defense response to virus [GO:0050687]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:1901621]; negative regulation of type I interferon production [GO:0032480]; neural tube patterning [GO:0021532]; post-anal tail morphogenesis [GO:0036342]; regulation of microtubule cytoskeleton organization [GO:0070507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDR0-1; Sequence=Displayed; Name=2; IsoId=Q8TDR0-2; Sequence=VSP_027734; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12935900}. Cell projection, cilium {ECO:0000269|PubMed:26487268}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q149C2}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q149C2}. Note=Microtubules (PubMed:12935900). In the cilium, it is observed at the ciliary base, ciliary transition zone and ciliary tip (PubMed:26487268). {ECO:0000269|PubMed:12935900, ECO:0000269|PubMed:26487268}.


uniprotID: P30301
geneSymbol: MIP
reactome: R-HSA-432047;
name: Lens fiber major intrinsic protein (Aquaporin-0) (MIP26) (MP26)
length: 263
go: ENSG00000135517;
snps: rs864309693 rs74641138 rs121917869 rs121917867 rs267603585
sequence:

opentargets:
apical plasma membrane [GO:0016324]; endoplasmic reticulum [GO:0005783]; gap junction [GO:0005921]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; structural constituent of eye lens [GO:0005212]; water channel activity [GO:0015250]; gap junction-mediated intercellular transport [GO:1990349]; lens development in camera-type eye [GO:0002088]; positive regulation of cell adhesion [GO:0045785]; protein homotetramerization [GO:0051289]; response to stimulus [GO:0050896]; visual perception [GO:0007601]; water transport [GO:0006833]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23116563, ECO:0000269|PubMed:24120416, ECO:0000269|PubMed:25946197}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q6J8I9}. Cell junction, gap junction {ECO:0000269|PubMed:24120416}.


uniprotID: Q15759
geneSymbol: MAPK11
pdb: 3GC8;3GC9;3GP0;
length: 364
go: ENSG00000185386;
drug: DB05157;DB08896;
snps: rs33932986
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
reactome:
R-HSA-168638;R-HSA-171007;R-HSA-198753;R-HSA-2151209;R-HSA-2559580;R-HSA-375170;R-HSA-376172;R-HSA-4420097;R-HSA-450302;R-HSA-450341;R-HSA-450604;R-HSA-6804756;

name:
Mitogen-activated protein kinase 11 (MAP kinase 11) (MAPK 11) (EC 2.7.11.24) (Mitogen-activated protein kinase p38 beta) (MAP kinase p38 beta) (p38b) (Stress-activated protein kinase 2b) (SAPK2b) (p38-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; MAP kinase activity [GO:0004707]; protein serine/threonine kinase activity [GO:0004674]; activation of MAPK activity [GO:0000187]; cellular response to interleukin-1 [GO:0071347]; cellular response to organic substance [GO:0071310]; cellular response to virus [GO:0098586]; intracellular signal transduction [GO:0035556]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-12 secretion [GO:2001184]; positive regulation of muscle cell differentiation [GO:0051149]; regulation of gene expression [GO:0010468]; regulation of signal transduction by p53 class mediator [GO:1901796]; stress-activated MAPK cascade [GO:0051403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15759-1; Sequence=Displayed; Name=2; IsoId=Q15759-3; Sequence=VSP_055221, VSP_055222, VSP_055223; Note=No experimental confirmation available.; 


uniprotID: Q8IVT2
geneSymbol: MISP
name: Mitotic interactor and substrate of PLK1 (Mitotic spindle positioning protein)
length: 679
go: ENSG00000099812;
snps: rs45477999 rs3746173 rs3746175 rs35384259 rs8107847
sequence:

opentargets:
cell cortex [GO:0005938]; cytoskeleton [GO:0005856]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; cell cycle [GO:0007049]; cell division [GO:0051301]

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Predominantly localizes to cortical actin structures during interphase and mitosis. Present in retraction fibers, which are formed at former adhesion sites during mitosis, and at spicular membrane protrusions in re-attaching cytokinetic cells. Partially colocalizes with cytoplasmic F-actin. Not detected at microtubules at interphase, nor at spindle during mitosis.


uniprotID: O15264
geneSymbol: MAPK13
reactome: R-HSA-168638;R-HSA-171007;R-HSA-376172;R-HSA-4420097;
pdb: 3COI;4EYJ;4EYM;4MYG;4YNO;5EKN;5EKO;
length: 365
go: ENSG00000156711;
drug: DB05157;
snps: rs55776345 rs55990045 rs41270090
name:
Mitogen-activated protein kinase 13 (MAP kinase 13) (MAPK 13) (EC 2.7.11.24) (Mitogen-activated protein kinase p38 delta) (MAP kinase p38 delta) (Stress-activated protein kinase 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; MAP kinase activity [GO:0004707]; protein serine/threonine kinase activity [GO:0004674]; cell cycle [GO:0007049]; cellular response to anisomycin [GO:0072740]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interleukin-1 [GO:0071347]; cellular response to organic substance [GO:0071310]; cellular response to sodium arsenite [GO:1903936]; cellular response to sorbitol [GO:0072709]; cellular response to UV [GO:0034644]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-6 production [GO:0032755]; regulation of gene expression [GO:0010468]; response to osmotic stress [GO:0006970]; stress-activated MAPK cascade [GO:0051403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15264-1; Sequence=Displayed; Name=2; IsoId=O15264-2; Sequence=VSP_056558, VSP_056559; Note=No experimental confirmation available.; 


uniprotID: Q9HBH9
geneSymbol: MKNK2
pdb: 2AC3;2AC5;2HW7;6CJ5;6CJE;6CJH;6CJW;6CJY;6CK3;6CK6;6CKI;
length: 465
go: ENSG00000099875;
snps: rs3746101 rs56158214 rs34475638
location: SUBCELLULAR LOCATION: Isoform 2: Nucleus, PML body.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm.
name:
MAP kinase-interacting serine/threonine-protein kinase 2 (EC 2.7.11.1) (MAP kinase signal-integrating kinase 2) (MAPK signal-integrating kinase 2) (Mnk2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; calcium-dependent protein serine/threonine kinase activity [GO:0009931]; calmodulin-dependent protein kinase activity [GO:0004683]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; cell surface receptor signaling pathway [GO:0007166]; cellular response to arsenic-containing substance [GO:0071243]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; hemopoiesis [GO:0030097]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:11013076}; Synonyms=2a {ECO:0000303|PubMed:11013076}; IsoId=Q9HBH9-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11013076}; Synonyms=2b {ECO:0000303|PubMed:11013076}; IsoId=Q9HBH9-2; Sequence=VSP_007353, VSP_007354; Name=3 {ECO:0000303|PubMed:11013076}; IsoId=Q9HBH9-3; Sequence=Not described; Name=4 {ECO:0000303|PubMed:11013076}; IsoId=Q9HBH9-4; Sequence=Not described; Name=5 {ECO:0000303|PubMed:11013076}; IsoId=Q9HBH9-5; Sequence=Not described; 


uniprotID: P31152
geneSymbol: MAPK4
reactome: R-HSA-5687128;
length: 587
go: ENSG00000141639;
snps: rs3752087 rs3752089
name:
Mitogen-activated protein kinase 4 (MAP kinase 4) (MAPK 4) (EC 2.7.11.24) (Extracellular signal-regulated kinase 4) (ERK-4) (MAP kinase isoform p63) (p63-MAPK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; MAP kinase activity [GO:0004707]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; cell cycle [GO:0007049]; cellular response to organic substance [GO:0071310]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocates to the cytoplasm following interaction with MAPKAPK5. {ECO:0000250}.


uniprotID: Q16659
geneSymbol: MAPK6
reactome: R-HSA-5687128;
pdb: 2I6L;
length: 721
go: ENSG00000069956;
snps: rs35697691
name:
Mitogen-activated protein kinase 6 (MAP kinase 6) (MAPK 6) (EC 2.7.11.24) (Extracellular signal-regulated kinase 3) (ERK-3) (MAP kinase isoform p97) (p97-MAPK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; septin cytoskeleton [GO:0032156]; ATP binding [GO:0005524]; MAP kinase activity [GO:0004707]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; cell cycle [GO:0007049]; cellular response to organic substance [GO:0071310]; intracellular signal transduction [GO:0035556]; positive regulation of dendritic spine development [GO:0060999]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocates to the cytoplasm following interaction with MAPKAPK5. {ECO:0000250}.


uniprotID: Q13064
geneSymbol: MKRN3
length: 507
go: ENSG00000179455;
snps: rs371642799 rs879255240 rs755791221
name:
Probable E3 ubiquitin-protein ligase makorin-3 (EC 2.3.2.27) (RING finger protein 63) (RING-type E3 ubiquitin transferase makorin-3) (Zinc finger protein 127)

sequence:

opentargets:
ribonucleoprotein complex [GO:1990904]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; protein ubiquitination [GO:0016567]


uniprotID: Q13164
geneSymbol: MAPK7
reactome: R-HSA-198753;R-HSA-198765;R-HSA-202670;R-HSA-2559582;R-HSA-881907;R-HSA-8853659;
pdb: 2Q8Y;4B99;4IC7;4IC8;4ZSG;4ZSJ;4ZSL;5BYY;5BYZ;5O7I;
length: 816
go: ENSG00000166484;
snps: rs56388327
name:
Mitogen-activated protein kinase 7 (MAP kinase 7) (MAPK 7) (EC 2.7.11.24) (Big MAP kinase 1) (BMK-1) (Extracellular signal-regulated kinase 5) (ERK-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; ATP binding [GO:0005524]; MAP kinase activity [GO:0004707]; mitogen-activated protein kinase binding [GO:0051019]; protein serine/threonine kinase activity [GO:0004674]; axon guidance [GO:0007411]; cAMP-mediated signaling [GO:0019933]; cell cycle [GO:0007049]; cellular response to growth factor stimulus [GO:0071363]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to laminar fluid shear stress [GO:0071499]; cellular response to organic substance [GO:0071310]; cellular response to transforming growth factor beta stimulus [GO:0071560]; intracellular signal transduction [GO:0035556]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051344]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of inflammatory response [GO:0050728]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of response to cytokine stimulus [GO:0060761]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to stress [GO:0036003]; regulation of angiogenesis [GO:0045765]; regulation of gene expression [GO:0010468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13164-1; Sequence=Displayed; Name=2; IsoId=Q13164-2; Sequence=VSP_035198; Note=No experimental confirmation available.; Name=3; IsoId=Q13164-3; Sequence=VSP_035200; Name=4; IsoId=Q13164-4; Sequence=VSP_035199, VSP_035200; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, PML body. Note=Translocates to the nucleus upon activation.


uniprotID: Q8IYA7
geneSymbol: MKX
name: Homeobox protein Mohawk
length: 352
go: ENSG00000150051;
snps: rs34439626
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; muscle organ development [GO:0007517]


uniprotID: P53779
geneSymbol: MAPK10
reactome: R-HSA-2559580;R-HSA-2871796;R-HSA-450321;R-HSA-450341;
length: 464
go: ENSG00000109339;
drug: DB08005;DB08021;DB06933;DB07010;DB04395;
pdb:
1JNK;1PMN;1PMU;1PMV;2B1P;2EXC;2O0U;2O2U;2OK1;2P33;2R9S;2WAJ;2ZDT;2ZDU;3CGF;3CGO;3DA6;3FI2;3FI3;3FV8;3G90;3G9L;3G9N;3KVX;3OXI;3OY1;3PTG;3RTP;3TTI;3TTJ;3V6R;3V6S;4H36;4H39;4H3B;4KKE;4KKG;4KKH;4U79;4W4V;4W4W;4W4X;4W4Y;4WHZ;4X21;4Y46;4Y5H;4Z9L;6EKD;6EMH;6EQ9;

name:
Mitogen-activated protein kinase 10 (MAP kinase 10) (MAPK 10) (EC 2.7.11.24) (MAP kinase p49 3F12) (Stress-activated protein kinase 1b) (SAPK1b) (Stress-activated protein kinase JNK3) (c-Jun N-terminal kinase 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; JUN kinase activity [GO:0004705]; MAP kinase activity [GO:0004707]; MAP kinase kinase activity [GO:0004708]; cellular response to organic substance [GO:0071310]; Fc-epsilon receptor signaling pathway [GO:0038095]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of gene expression [GO:0010468]; response to light stimulus [GO:0009416]; rhythmic process [GO:0048511]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=A similar low level of binding to substrates is observed for isoform alpha-1 and isoform alpha-2. However, there is no correlation between binding and phosphorylation, which is achieved about at the same efficiency by all isoforms.; Name=Alpha-2; IsoId=P53779-1; Sequence=Displayed; Name=Alpha-1; IsoId=P53779-2; Sequence=VSP_004839; Name=3; IsoId=P53779-3; Sequence=VSP_041911; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16737965}. Membrane {ECO:0000269|PubMed:16737965}; Lipid-anchor {ECO:0000269|PubMed:16737965}. Nucleus {ECO:0000269|PubMed:16737965}. Mitochondrion {ECO:0000269|PubMed:16737965}. Note=Palmitoylation regulates MAPK10 trafficking to cytoskeleton. Recruited to the mitochondria in the presence of SARM1 (By similarity). {ECO:0000250}.


uniprotID: P58340
geneSymbol: MLF1
pdb: 3UAL;3UBW;
name: Myeloid leukemia factor 1 (Myelodysplasia-myeloid leukemia factor 1)
length: 268
go: ENSG00000178053;
snps: rs15967
sequence:

opentargets:
ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein domain specific binding [GO:0019904]; cell cycle arrest [GO:0007050]; myeloid progenitor cell differentiation [GO:0002318]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P58340-1; Sequence=Displayed; Name=2; IsoId=P58340-2; Sequence=VSP_043130, VSP_043131; Name=3; IsoId=P58340-3; Sequence=VSP_043725, VSP_043726; Note=No experimental confirmation available.; Name=5; IsoId=P58340-5; Sequence=VSP_043130; Name=4; IsoId=P58340-4; Sequence=VSP_043130, VSP_043726; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9QWV4}. Nucleus {ECO:0000250|UniProtKB:Q9QWV4}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9QWV4}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q9QWV4}. Note=Shuttles between the cytoplasm and nucleus. {ECO:0000250|UniProtKB:Q9QWV4}.


uniprotID: Q01449
geneSymbol: MYL7
reactome: R-HSA-445355;
length: 175
go: ENSG00000106631;
name:
Myosin regulatory light chain 2, atrial isoform (MLC-2a) (MLC2a) (Myosin light chain 2a) (Myosin regulatory light chain 7)

sequence:
MASRKAGTRGKVAATKQAQRGSSNVFSMFEQAQIQEFKEAFSCIDQNRDGIICKADLRETYSQLGKVSVPEEELDAMLQEGKGPINFTVFLTLFGEKLNGTDPEEAILSAFRMFDPSGKGVVNKDEFKQLLLTQADKFSPAEVEQMFALTPMDLAGNIDYKSLCYIITHGDEKEE

opentargets:
A band [GO:0031672]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; myosin complex [GO:0016459]; calcium ion binding [GO:0005509]; muscle contraction [GO:0006936]


uniprotID: P0DMT0
geneSymbol: MRLN
name: Myoregulin
sequence: MTGKNWILISTTTPKSLEDEIVGRLLKILFVIFVDLISIIYVVITS
length: 46
go: ENSG00000227877;
opentargets:
integral component of membrane [GO:0016021]; sarcoplasmic reticulum membrane [GO:0033017]; enzyme inhibitor activity [GO:0004857]; negative regulation of calcium ion import into sarcoplasmic reticulum [GO:1902081]; response to wounding [GO:0009611]

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9CV60}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9CV60}.


uniprotID: Q96A32
geneSymbol: MYLPF
reactome: R-HSA-445355;
length: 169
go: ENSG00000180209;
name:
Myosin regulatory light chain 2, skeletal muscle isoform (Fast skeletal myosin light chain 2) (MLC2B)

sequence:
MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRLNVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFLEELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

opentargets:
cytosol [GO:0005829]; lysosomal membrane [GO:0005765]; muscle myosin complex [GO:0005859]; calcium ion binding [GO:0005509]; structural constituent of muscle [GO:0008307]; immune response [GO:0006955]; muscle contraction [GO:0006936]; skeletal muscle tissue development [GO:0007519]


uniprotID: Q9BXW4
geneSymbol: MAP1LC3C
reactome: R-HSA-1632852;
pdb: 2NCN;3VVW;3WAM;3WAP;5DPW;
length: 147
go: ENSG00000197769;
name:
Microtubule-associated proteins 1A/1B light chain 3C (Autophagy-related protein LC3 C) (Autophagy-related ubiquitin-like modifier LC3 C) (MAP1 light chain 3-like protein 3) (MAP1A/MAP1B light chain 3 C) (MAP1A/MAP1B LC3 C) (Microtubule-associated protein 1 light chain 3 gamma)

sequence:
MPPPQKIPSVRPFKQRKSLAIRQEEVAGIRAKFPNKIPVVVERYPRETFLPPLDKTKFLVPQELTMTQFLSIIRSRMVLRATEAFYLLVNNKSLVSMSATMAEIYRDYKDEDGFVYMTYASQETFGCLESAAPRDGSSLEDRPCNPL

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; microtubule [GO:0005874]; organelle membrane [GO:0031090]; microtubule binding [GO:0008017]; ubiquitin protein ligase binding [GO:0031625]; aggrephagy [GO:0035973]; autophagosome assembly [GO:0000045]; autophagosome maturation [GO:0097352]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]; cellular response to starvation [GO:0009267]; macroautophagy [GO:0016236]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12740394}. Endomembrane system {ECO:0000269|PubMed:12740394}; Lipid-anchor {ECO:0000269|PubMed:12740394}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:12740394}; Lipid-anchor {ECO:0000269|PubMed:12740394}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:20529957, ECO:0000269|PubMed:23459205}. Note=LC3-II binds to the autophagic membranes.


uniprotID: Q9H3L0
geneSymbol: MMADHC
reactome: R-HSA-196741;R-HSA-3359473;
pdb: 5CUZ;5CV0;
name: Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (CblD)
length: 296
go: ENSG00000168288;
snps: rs118204045 rs118204046 rs118204044
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; cobalamin metabolic process [GO:0009235]; coenzyme biosynthetic process [GO:0009108]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23270877}. Mitochondrion {ECO:0000269|PubMed:23270877}.


uniprotID: Q9UH92
geneSymbol: MLX
reactome: R-HSA-163765;
length: 298
go: ENSG00000108788;
snps: rs665268
name:
Max-like protein X (Class D basic helix-loop-helix protein 13) (bHLHd13) (Max-like bHLHZip protein) (Protein BigMax) (Transcription factor-like protein 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Gamma; IsoId=Q9UH92-1; Sequence=Displayed; Name=Alpha; IsoId=Q9UH92-2; Sequence=VSP_002137, VSP_002138; Name=Beta; IsoId=Q9UH92-3; Sequence=VSP_002137; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Cytoplasm {ECO:0000269|PubMed:10918583}. Note=Found predominantly in the cytoplasm (PubMed:10918583). {ECO:0000269|PubMed:10918583}.; SUBCELLULAR LOCATION: Isoform Beta: Cytoplasm {ECO:0000269|PubMed:10918583}. Note=Found predominantly in the cytoplasm (PubMed:10918583). {ECO:0000269|PubMed:10918583}.; SUBCELLULAR LOCATION: Isoform Gamma: Nucleus {ECO:0000269|PubMed:10918583}. Note=Found predominantly in the nucleus (PubMed:10918583). {ECO:0000269|PubMed:10918583}.


uniprotID: Q9Y4U1
geneSymbol: MMACHC
reactome: R-HSA-196741;R-HSA-3359473;R-HSA-3359474;
pdb: 3SBY;3SBZ;3SC0;3SOM;5UOS;
length: 282
go: ENSG00000132763;
drug: DB00115;DB00200;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23270877}.
name:
Methylmalonic aciduria and homocystinuria type C protein (EC 1.16.1.-) (CblC) (Cyanocobalamin reductase (cyanide-eliminating))

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cobalamin binding [GO:0031419]; cyanocobalamin reductase (cyanide-eliminating) activity [GO:0033787]; demethylase activity [GO:0032451]; FAD binding [GO:0071949]; glutathione binding [GO:0043295]; oxidoreductase activity [GO:0016491]; protein homodimerization activity [GO:0042803]; cobalamin biosynthetic process [GO:0009236]; cobalamin metabolic process [GO:0009235]; demethylation [GO:0070988]; glutathione metabolic process [GO:0006749]; oxidation-reduction process [GO:0055114]

snps:
rs546099787 rs121918240 rs372670428 rs140522266 rs140522266 rs1002571805 rs121918243 rs200895671 rs1233135084 rs538023671 rs35219601 


uniprotID: Q6IA69
geneSymbol: NADSYN1
reactome: R-HSA-196807;
length: 706
go: ENSG00000172890;
drug: DB00142;DB00130;
snps: rs2276360 rs7950441 rs7121106 rs35007971 rs12282060
name:
Glutamine-dependent NAD(+) synthetase (EC 6.3.5.1) (NAD(+) synthase [glutamine-hydrolyzing]) (NAD(+) synthetase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; glutaminase activity [GO:0004359]; NAD+ synthase (glutamine-hydrolyzing) activity [GO:0003952]; NAD biosynthetic process [GO:0009435]; NAD metabolic process [GO:0019674]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IA69-1; Sequence=Displayed; Name=2; IsoId=Q6IA69-2; Sequence=VSP_056585, VSP_056586; Note=No experimental confirmation available.; 


uniprotID: Q9ULZ9
geneSymbol: MMP17
reactome: R-HSA-1592389;
length: 603
go: ENSG00000198598;
drug: DB00786;
name:
Matrix metalloproteinase-17 (MMP-17) (EC 3.4.24.-) (Membrane-type matrix metalloproteinase 4) (MT-MMP 4) (MTMMP4) (Membrane-type-4 matrix metalloproteinase) (MT4-MMP) (MT4MMP)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular matrix [GO:0031012]; plasma membrane [GO:0005886]; enzyme activator activity [GO:0008047]; metalloaminopeptidase activity [GO:0070006]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; drinking behavior [GO:0042756]; kidney development [GO:0001822]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9ULZ9-1; Sequence=Displayed; Name=Short; Synonyms=Puente; IsoId=Q9ULZ9-2; Sequence=VSP_005456; 

location:
SUBCELLULAR LOCATION: Isoform Long: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Secreted, extracellular space, extracellular matrix.


uniprotID: Q5TA79
geneSymbol: LCE2A
reactome: R-HSA-6809371;
name: Late cornified envelope protein 2A (Late envelope protein 9)
length: 106
go: ENSG00000187173;
snps: rs58733562
sequence:
MSCQQNQQQCQPPPKCPPKCPPKCPPKCRPQCPAPCPPPVSSCCGPSSGGCCGSSSGGCCSSGGGGCCLSHHRPRLFHRHRHQSPDCCECEPSGGSGCCHSSGDCC

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: P60371
geneSymbol: KRTAP10-6
reactome: R-HSA-6805567;
length: 365
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs13051409 rs13050443 rs233306 rs465279
name:
Keratin-associated protein 10-6 (High sulfur keratin-associated protein 10.6) (Keratin-associated protein 10.6) (Keratin-associated protein 18-6) (Keratin-associated protein 18.6)

sequence:


uniprotID: Q8IV03
geneSymbol: LURAP1L
name: Leucine rich adaptor protein 1-like
length: 231
opentargets: positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]
snps: rs3750501
sequence:


uniprotID: Q96LR2
geneSymbol: LURAP1
name: Leucine rich adaptor protein 1 (Leucine repeat adapter protein 35A)
length: 239
go: ENSG00000171357;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21048106}.
sequence:

opentargets:
actomyosin [GO:0042641]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; actomyosin structure organization [GO:0031032]; cell migration [GO:0016477]; positive regulation of cytokine production [GO:0001819]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]


uniprotID: Q8N653
geneSymbol: LZTR1
name: Leucine-zipper-like transcriptional regulator 1 (LZTR-1)
length: 840
go: ENSG00000099949;
snps: rs587777177 rs797045166 rs869320686 rs797045165 rs201016956 rs587777180 rs148916790 rs587777178
sequence:

opentargets:
Golgi apparatus [GO:0005794]; DNA-binding transcription factor activity [GO:0003700]; anatomical structure morphogenesis [GO:0009653]


uniprotID: Q9Y5Y7
geneSymbol: LYVE1
reactome: R-HSA-2160916;
length: 322
go: ENSG00000133800;
snps: rs17852369 rs16907980 rs7948666
name:
Lymphatic vessel endothelial hyaluronic acid receptor 1 (LYVE-1) (Cell surface retention sequence-binding protein 1) (CRSBP-1) (Extracellular link domain-containing protein 1) (Hyaluronic acid receptor)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; hyaluronic acid binding [GO:0005540]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; anatomical structure morphogenesis [GO:0009653]; cell-matrix adhesion [GO:0007160]; hyaluronan catabolic process [GO:0030214]; response to wounding [GO:0009611]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10037799}; Single-pass type I membrane protein {ECO:0000269|PubMed:10037799}. Note=Localized to the plasma membrane and in vesicles near extranuclear membranes which may represent trans-Golgi network (TGN) and endosomes/prelysosomeal compartments. Undergoes ligand-dependent internalization and recycling at the cell surface.


uniprotID: Q8WZA0
geneSymbol: LZIC
length: 190
go: ENSG00000162441;
opentargets: beta-catenin binding [GO:0008013]; response to ionizing radiation [GO:0010212]
snps: rs2304778
name:
Protein LZIC (Leucine zipper and CTNNBIP1 domain-containing protein) (Leucine zipper and ICAT homologous domain-containing protein)

sequence:
MASRGKTETSKLKQNLEEQLDRLMQQLQDLEECREELDTDEYEETKKETLEQLSEFNDSLKKIMSGNMTLVDELSGMQLAIQAAISQAFKTPEVIRLFAKKQPGQLRTRLAEMDRDLMVGKLERDLYTQQKVEILTALRKLGEKLTADDEAFLSANAGAILSQFEKVSTDLGSGDKILALASFEVEKTKK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WZA0-1; Sequence=Displayed; Name=2; IsoId=Q8WZA0-2; Sequence=VSP_056083; Note=No experimental confirmation available.; 


uniprotID: Q9NXJ0
geneSymbol: MS4A12
name: Membrane-spanning 4-domains subfamily A member 12
length: 267
go: ENSG00000071203;
opentargets: integral component of membrane [GO:0016021]
snps: rs12788393
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXJ0-1; Sequence=Displayed; Name=2; IsoId=Q9NXJ0-2; Sequence=VSP_044899; Note=No experimental confirmation available.; 


uniprotID: Q5J8X5
geneSymbol: MS4A13
name: Membrane-spanning 4-domains subfamily A member 13 (Testis-expressed transmembrane protein 4)
length: 152
go: ENSG00000204979;
opentargets: integral component of membrane [GO:0016021]
snps: rs55756397 rs10736706 rs6591595
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MIGIFHIFMWYFLLVLYMGQIKGAFGTYEPVTYKTGCTLWGIFFIIAGVFLIRVTKYPTRSGIISTLIINIICIITTITAVTLTIIELSHFNSVSYRNYGQAKLGREVSRILLFFYGLEFSIALTHSIYSCSNLFRRQNDLTSVTEEAESTP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5J8X5-1; Sequence=Displayed; Name=2; IsoId=Q5J8X5-2; Sequence=VSP_030476; Name=3; IsoId=Q5J8X5-3; Sequence=VSP_030477; 


uniprotID: Q12852
geneSymbol: MAP3K12
pdb: 5CEN;5CEO;5CEP;5CEQ;5VO1;5VO2;
length: 859
go: ENSG00000139625;
snps: rs34366500 rs55794887
name:
Mitogen-activated protein kinase kinase kinase 12 (EC 2.7.11.25) (Dual leucine zipper bearing kinase) (DLK) (Leucine-zipper protein kinase) (ZPK) (MAPK-upstream kinase) (MUK) (Mixed lineage kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; growth cone [GO:0030426]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; JUN kinase kinase kinase activity [GO:0004706]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; activation of JNKK activity [GO:0007256]; activation of JUN kinase activity [GO:0007257]; histone phosphorylation [GO:0016572]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; negative regulation of motor neuron apoptotic process [GO:2000672]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12852-1; Sequence=Displayed; Name=2; IsoId=Q12852-2; Sequence=VSP_044646; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q9Y6R4
geneSymbol: MAP3K4
length: 1608
go: ENSG00000085511;
snps: rs4559074 rs35842248 rs35730939 rs55765351 rs34018542 rs35533223 rs41267837
name:
Mitogen-activated protein kinase kinase kinase 4 (EC 2.7.11.25) (MAP three kinase 1) (MAPK/ERK kinase kinase 4) (MEK kinase 4) (MEKK 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; activation of MAPKK activity [GO:0000186]; activation of protein kinase activity [GO:0032147]; chorionic trophoblast cell differentiation [GO:0060718]; intracellular signal transduction [GO:0035556]; male germ-line sex determination [GO:0019100]; placenta development [GO:0001890]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; regulation of gene expression [GO:0010468]; response to UV-C [GO:0010225]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=Q9Y6R4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9Y6R4-2; Sequence=VSP_004884; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. Note=Localized in perinuclear vesicular-like structures, probably Golgi-associated vesicles. {ECO:0000250}.


uniprotID: Q99683
geneSymbol: MAP3K5
reactome: R-HSA-2559580;
length: 1374
go: ENSG00000197442;
snps: rs45626535 rs56379668 rs35551087 rs45599539 rs41288957
pdb:
2CLQ;3VW6;4BF2;4BHN;4BIB;4BIC;4BID;4BIE;5ULM;5UOR;5UOX;5UP3;5V19;5V24;5VIL;5VIO;6E2M;6E2N;6E2O;6EJL;

name:
Mitogen-activated protein kinase kinase kinase 5 (EC 2.7.11.25) (Apoptosis signal-regulating kinase 1) (ASK-1) (MAPK/ERK kinase kinase 5) (MEK kinase 5) (MEKK 5)

sequence:

opentargets:
cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; IRE1-TRAF2-ASK1 complex [GO:1990604]; protein kinase complex [GO:1902911]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; MAP kinase kinase kinase activity [GO:0004709]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; activation of MAPKK activity [GO:0000186]; apoptotic signaling pathway [GO:0097190]; cellular response to amino acid starvation [GO:0034198]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to reactive nitrogen species [GO:1902170]; cellular response to tumor necrosis factor [GO:0071356]; endothelial cell apoptotic process [GO:0072577]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; p38MAPK cascade [GO:0038066]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of neuron death [GO:1901216]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; programmed necrotic cell death [GO:0097300]; protein phosphorylation [GO:0006468]; response to endoplasmic reticulum stress [GO:0034976]; response to ischemia [GO:0002931]; stress-activated MAPK cascade [GO:0051403]; viral process [GO:0016032]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99683-1; Sequence=Displayed; Name=2; IsoId=Q99683-2; Sequence=VSP_056182; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum. Note=Interaction with 14-3-3 proteins alters the distribution of MAP3K5/ASK1 and restricts it to the perinuclear endoplasmic reticulum region.


uniprotID: Q6ZN28
geneSymbol: MACC1
name: Metastasis-associated in colon cancer protein 1 (SH3 domain-containing protein 7a5)
length: 852
go: ENSG00000183742;
snps: rs4721888 rs17142503 rs975263 rs12671170 rs3735615
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; growth factor activity [GO:0008083]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; positive regulation of cell division [GO:0051781]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19098908}. Nucleus {ECO:0000269|PubMed:19098908}. Note=Mainly found in the cytoplasm in non-metastasizing tumors.


uniprotID: Q9ULX9
geneSymbol: MAFF
reactome: R-HSA-983231;
name: Transcription factor MafF (U-Maf) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog F)
length: 164
go: ENSG00000185022;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:
MSVDPLSSKALKIKRELSENTPHLSDEALMGLSVRELNRHLRGLSAEEVTRLKQRRRTLKNRGYAASCRVKRVCQKEELQKQKSELEREVDKLARENAAMRLELDALRGKCEALQGFARSVAAARGPATLVAPASVITIVKSTPGSGSGPAHGPDPAHGPASCS

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; blood coagulation [GO:0007596]; in utero embryonic development [GO:0001701]; parturition [GO:0007567]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of epidermal cell differentiation [GO:0045604]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULX9-1; Sequence=Displayed; Name=2; IsoId=Q9ULX9-2; Sequence=VSP_043029; Note=No experimental confirmation available.; 


uniprotID: Q8WZ33
geneSymbol: MAFIP
name: MaFF-interacting protein (Tektin-4 like protein PP5644)
length: 124
sequence:
MLCPRAAFLVGSFHGVFPGPPASSHWEFWVPSTPVGAYFCPPQPQLTPPNTPKLVSEVEELYKSITALREKLLQAEQSLRNLKDIHMSLEKDVTAMTNSVFIDRQKCMAHRTCYPTILQLAGYQ

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; sperm flagellum [GO:0036126]; cilium assembly [GO:0060271]; cilium movement involved in cell motility [GO:0060294]; flagellated sperm motility [GO:0030317]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16549056}. Nucleus, nucleolus {ECO:0000269|PubMed:16549056}. Note=Interaction with MAFF induces its translocation from the cytoplasm to the nucleolus.


uniprotID: O43318
geneSymbol: MAP3K7
length: 606
go: ENSG00000135341;
snps: rs886039231 rs886039232 rs886039235 rs886039233 rs886039237 rs886039230
reactome:
R-HSA-1169091;R-HSA-168638;R-HSA-202424;R-HSA-2871837;R-HSA-4086398;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-5357956;R-HSA-5607764;R-HSA-5689880;R-HSA-9014325;R-HSA-9020702;R-HSA-937042;R-HSA-937072;R-HSA-975163;

pdb:
2EVA;2YIY;4GS6;4L3P;4L52;4L53;4O91;5E7R;5GJD;5GJF;5GJG;5J7S;5J8I;5J9L;5JGA;5JGB;5JGD;5JH6;5JK3;5V5N;

name:
Mitogen-activated protein kinase kinase kinase 7 (EC 2.7.11.25) (Transforming growth factor-beta-activated kinase 1) (TGF-beta-activated kinase 1)

sequence:

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; MAP kinase kinase kinase activity [GO:0004709]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; receptor tyrosine kinase binding [GO:0030971]; scaffold protein binding [GO:0097110]; activation of MAPK activity [GO:0000187]; activation of MAPKK activity [GO:0000186]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; anoikis [GO:0043276]; Fc-epsilon receptor signaling pathway [GO:0038095]; histone H3 acetylation [GO:0043966]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; I-kappaB phosphorylation [GO:0007252]; interleukin-1-mediated signaling pathway [GO:0070498]; JNK cascade [GO:0007254]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of macroautophagy [GO:0016239]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of T cell cytokine production [GO:0002726]; protein deubiquitination [GO:0016579]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; stress-activated MAPK cascade [GO:0051403]; T cell receptor signaling pathway [GO:0050852]; transforming growth factor beta receptor signaling pathway [GO:0007179]; viral process [GO:0016032]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1B; IsoId=O43318-1; Sequence=Displayed; Name=1A; IsoId=O43318-2; Sequence=VSP_004886; Name=1C; IsoId=O43318-3; Sequence=VSP_004887, VSP_004888; Name=1D; IsoId=O43318-4; Sequence=VSP_004886, VSP_004887, VSP_004888; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12242293}. Cell membrane {ECO:0000269|PubMed:12242293}; Peripheral membrane protein {ECO:0000269|PubMed:12242293}; Cytoplasmic side {ECO:0000269|PubMed:12242293}. Note=Although the majority of MAP3K7/TAK1 is found in the cytosol, when complexed with TAB1/MAP3K7IP1 and TAB2/MAP3K7IP2, it is also localized at the cell membrane.


uniprotID: P43360
geneSymbol: MAGEA6
name: Melanoma-associated antigen 6 (Cancer/testis antigen 1.6) (CT1.6) (MAGE-6 antigen) (MAGE3B antigen)
length: 314
go: ENSG00000197172;
snps: rs7056365
sequence:


uniprotID: P43361
geneSymbol: MAGEA8
name: Melanoma-associated antigen 8 (Cancer/testis antigen 1.8) (CT1.8) (MAGE-8 antigen)
length: 318
go: ENSG00000156009;
snps: rs35744768 rs12010332
sequence:


uniprotID: Q14582
geneSymbol: MXD4
length: 209
go: ENSG00000123933;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Max dimerization protein 4 (Max dimerizer 4) (Class C basic helix-loop-helix protein 12) (bHLHc12) (Max-associated protein 4) (Max-interacting transcriptional repressor MAD4)

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]; transcription corepressor activity [GO:0003714]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: O15481
geneSymbol: MAGEB4
name: Melanoma-associated antigen B4 (MAGE-B4 antigen)
length: 346
go: ENSG00000120289;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2A9R3}.
sequence:


uniprotID: A2A368
geneSymbol: MAGEB16
name: Melanoma-associated antigen B16 (MAGE-B16 antigen)
length: 324
go: ENSG00000189023;
snps: rs1410961 rs1410962 rs5973488 rs4829391 rs4829390
sequence:


uniprotID: A8MXT2
geneSymbol: MAGEB17
name: Melanoma-associated antigen B17
length: 336
go: ENSG00000182798;
sequence:


uniprotID: Q96M61
geneSymbol: MAGEB18
name: Melanoma-associated antigen B18 (MAGE-B18 antigen)
length: 343
go: ENSG00000176774;
opentargets: cytoplasm [GO:0005737]
snps: rs5944317
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BQR7}.
sequence:


uniprotID: P43356
geneSymbol: MAGEA2; MAGEA2B
name: Melanoma-associated antigen 2 (Cancer/testis antigen 1.2) (CT1.2) (MAGE-2 antigen)
length: 314
go: ENSG00000183305;
location: SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body.
sequence:

opentargets:
nucleus [GO:0005634]; PML body [GO:0016605]; histone deacetylase binding [GO:0042826]; repressing transcription factor binding [GO:0070491]; ubiquitin protein ligase binding [GO:0031625]; cellular protein catabolic process [GO:0044257]; cellular senescence [GO:0090398]; negative regulation of protein acetylation [GO:1901984]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; signal transduction by p53 class mediator [GO:0072331]


uniprotID: Q8IW41
geneSymbol: MAPKAPK5
reactome: R-HSA-2559580;R-HSA-5687128;R-HSA-6804756;
length: 473
go: ENSG00000089022;
snps: rs34132040 rs34843470
name:
MAP kinase-activated protein kinase 5 (MAPK-activated protein kinase 5) (MAPKAP kinase 5) (MAPKAP-K5) (MAPKAPK-5) (MK-5) (MK5) (EC 2.7.11.1) (p38-regulated/activated protein kinase) (PRAK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calcium-dependent protein serine/threonine kinase activity [GO:0009931]; calmodulin-dependent protein kinase activity [GO:0004683]; MAP kinase kinase activity [GO:0004708]; mitogen-activated protein kinase binding [GO:0051019]; p53 binding [GO:0002039]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; negative regulation of TOR signaling [GO:0032007]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein autophosphorylation [GO:0046777]; Ras protein signal transduction [GO:0007265]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of translation [GO:0006417]; signal transduction [GO:0007165]; stress-induced premature senescence [GO:0090400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IW41-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IW41-2; Sequence=VSP_011597; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates to the cytoplasm following phosphorylation and activation. Interaction with ERK3/MAPK6 or ERK4/MAPK4 and phosphorylation at Thr-182, activates the protein kinase activity, followed by translocation to the cytoplasm. Phosphorylation by PKA/PRKACA at Ser-115 also induces nuclear export.


uniprotID: Q15691
geneSymbol: MAPRE1
length: 268
go: ENSG00000101367;
reactome:
R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5663220;R-HSA-68877;R-HSA-8852276;R-HSA-8854518;

pdb:
1PA7;1TXQ;1UEG;1VKA;1WU9;1YIB;1YIG;2HKQ;2HL3;2HL5;2QJZ;2R8U;3GJO;3MTU;3MUD;3TQ7;4XA1;4XA3;4XA6;5JV3;5JVM;5JVP;5JVR;5JVS;5JVU;5JX1;5WLQ;

name:
Microtubule-associated protein RP/EB family member 1 (APC-binding protein EB1) (End-binding protein 1) (EB1)

sequence:

opentargets:
cell projection membrane [GO:0031253]; centrosome [GO:0005813]; cortical microtubule cytoskeleton [GO:0030981]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; microtubule plus-end [GO:0035371]; spindle midzone [GO:0051233]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; cell division [GO:0051301]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of microtubule polymerization [GO:0031115]; positive regulation of cell migration [GO:0030335]; positive regulation of microtubule plus-end binding [GO:1903033]; positive regulation of microtubule polymerization [GO:0031116]; protein localization [GO:0008104]; protein localization to microtubule [GO:0035372]; protein localization to microtubule plus-end [GO:1904825]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of microtubule polymerization or depolymerization [GO:0031110]; spindle assembly [GO:0051225]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10188731, ECO:0000269|PubMed:12388762, ECO:0000269|PubMed:21646404, ECO:0000269|PubMed:28814570, ECO:0000269|PubMed:9724749}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12388762, ECO:0000269|PubMed:14654843}. Golgi apparatus {ECO:0000269|PubMed:25217626}. Note=Associated with the microtubule growing distal tips (PubMed:28814570). Recruitment to the Golgi apparatus requires the presence of PDE4DIP isoform 13/MMG8/SMYLE (PubMed:25217626). {ECO:0000269|PubMed:25217626, ECO:0000269|PubMed:28814570}.


uniprotID: Q15555
geneSymbol: MAPRE2
length: 327
go: ENSG00000166974;
snps: rs864309719 rs864309717 rs864309720 rs11538993
name:
Microtubule-associated protein RP/EB family member 2 (APC-binding protein EB2) (End-binding protein 2) (EB2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; focal adhesion [GO:0005925]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; microtubule plus-end [GO:0035371]; spindle midzone [GO:0051233]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; cell proliferation [GO:0008283]; positive regulation of adherens junction organization [GO:1903393]; positive regulation of ARF protein signal transduction [GO:0032014]; positive regulation of GTPase activity [GO:0043547]; positive regulation of keratinocyte migration [GO:0051549]; protein localization to microtubule [GO:0035372]; protein localization to microtubule plus-end [GO:1904825]; regulation of microtubule polymerization or depolymerization [GO:0031110]; signal transduction [GO:0007165]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q15555-1; Sequence=Displayed; Name=2; IsoId=Q15555-2; Sequence=VSP_012944, VSP_012945; Name=3; IsoId=Q15555-3; Sequence=VSP_045710; Note=No experimental confirmation available.; Name=5; IsoId=Q15555-5; Sequence=VSP_055671; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; Name=4; IsoId=Q15555-4; Sequence=VSP_046041; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10188731}. Note=Associated with the microtubule network. Accumulates at the plus end of microtubules.


uniprotID: Q6P0Q8
geneSymbol: MAST2
pdb: 2KQF;2KYL;
name: Microtubule-associated serine/threonine-protein kinase 2 (EC 2.7.11.1)
length: 1798
go: ENSG00000086015;
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule cytoskeleton [GO:0015630]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; microtubule binding [GO:0008017]; phosphatase binding [GO:0019902]; protein serine/threonine kinase activity [GO:0004674]; cytoskeleton organization [GO:0007010]; intracellular signal transduction [GO:0035556]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of interleukin-12 biosynthetic process [GO:0045075]; spermatid differentiation [GO:0048515]

snps:
rs55914403 rs11211247 rs1707336 rs56114653 rs1052607 rs56060730 rs56309943 rs33931638 rs3737738 rs3737737 rs1052610 rs35474583 rs34070850 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12117771}; IsoId=Q6P0Q8-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q6P0Q8-2; Sequence=VSP_051698, VSP_051699, VSP_051700; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12117771}. Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=Recruited to the sub-membranous area on interaction with CDHR2.


uniprotID: Q9NZL9
geneSymbol: MAT2B
reactome: R-HSA-156581;R-HSA-5689880;
pdb: 2YDX;2YDY;4KTT;4KTV;4NDN;
length: 334
go: ENSG00000038274;
drug: DB00134;
snps: rs17849948
name:
Methionine adenosyltransferase 2 subunit beta (Methionine adenosyltransferase II beta) (MAT II beta) (Putative dTDP-4-keto-6-deoxy-D-glucose 4-reductase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; methionine adenosyltransferase complex [GO:0048269]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; methionine adenosyltransferase regulator activity [GO:0048270]; one-carbon metabolic process [GO:0006730]; S-adenosylmethionine biosynthetic process [GO:0006556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NZL9-1; Sequence=Displayed; Name=2; IsoId=Q9NZL9-2; Sequence=VSP_025534; Name=3; IsoId=Q9NZL9-3; Sequence=VSP_025538, VSP_025539; Note=No experimental confirmation available.; Name=4; IsoId=Q9NZL9-4; Sequence=VSP_025534, VSP_025540; Name=5; IsoId=Q9NZL9-5; Sequence=VSP_025535, VSP_025536, VSP_025537; 


uniprotID: P04201
geneSymbol: MAS1
name: Proto-oncogene Mas
length: 325
go: ENSG00000130368;
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; angiotensin receptor activity [GO:0001595]; angiotensin type II receptor activity [GO:0004945]; G protein-coupled receptor activity [GO:0004930]; peptide binding [GO:0042277]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; anatomical structure morphogenesis [GO:0009653]; cell proliferation [GO:0008283]; G protein-coupled receptor signaling pathway [GO:0007186]; hippocampus development [GO:0021766]; male gonad development [GO:0008584]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA replication [GO:0045740]; positive regulation of inositol phosphate biosynthetic process [GO:0060732]; protein kinase C signaling [GO:0070528]; regulation of inflammatory response [GO:0050727]; response to activity [GO:0014823]; response to drug [GO:0042493]; response to gonadotropin [GO:0034698]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16611642}; Multi-pass membrane protein {ECO:0000269|PubMed:16611642}.


uniprotID: Q9Y4F3
geneSymbol: MARF1
pdb: 2DGX;2DIU;
name: Meiosis regulator and mRNA stability factor 1 (Limkain-b1) (Meiosis arrest female protein 1)
length: 1742
go: ENSG00000166783;
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:15932519}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; peroxisome [GO:0005777]; RNA binding [GO:0003723]; double-strand break repair [GO:0006302]; female meiotic nuclear division [GO:0007143]; negative regulation of phosphatase activity [GO:0010923]; oogenesis [GO:0048477]; regulation of gene expression [GO:0010468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y4F3-1; Sequence=Displayed; Name=2; IsoId=Q9Y4F3-3; Sequence=VSP_022988; Name=3; IsoId=Q9Y4F3-4; Sequence=VSP_037757; Name=4; IsoId=Q9Y4F3-5; Sequence=VSP_037758, VSP_037759; Name=5; IsoId=Q9Y4F3-6; Sequence=VSP_037755, VSP_037756; Note=May be due to an intron retention.; 


uniprotID: P42679
geneSymbol: MATK
reactome: R-HSA-8863795;
pdb: 1JWO;1X6G;3US4;
length: 507
go: ENSG00000007264;
snps: rs35351680 rs778726488
name:
Megakaryocyte-associated tyrosine-protein kinase (EC 2.7.10.2) (CSK homologous kinase) (CHK) (Hematopoietic consensus tyrosine-lacking kinase) (Protein kinase HYL) (Tyrosine-protein kinase CTK)

sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein tyrosine kinase activity [GO:0004713]; cell proliferation [GO:0008283]; ERBB2 signaling pathway [GO:0038128]; mesoderm development [GO:0007498]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cell proliferation [GO:0042127]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P42679-1; Sequence=Displayed; Name=2; IsoId=P42679-2; Sequence=VSP_043123; Note=No experimental confirmation available.; Name=3; IsoId=P42679-3; Sequence=VSP_044277; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9171348}. Membrane {ECO:0000269|PubMed:9171348}. Note=In platelets, 90% of MATK localizes to the membrane fraction, and translocates to the cytoskeleton upon thrombin stimulation.


uniprotID: P21941
geneSymbol: MATN1
reactome: R-HSA-3000178;
name: Cartilage matrix protein (Matrilin-1)
length: 496
go: ENSG00000162510;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; protein-containing complex assembly [GO:0065003]; regulation of bone mineralization [GO:0030500]


uniprotID: O15232
geneSymbol: MATN3
reactome: R-HSA-3000178;R-HSA-381426;R-HSA-8957275;
name: Matrilin-3
length: 486
go: ENSG00000132031;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; cellular protein metabolic process [GO:0044267]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; post-translational protein modification [GO:0043687]; skeletal system development [GO:0001501]

snps:
rs963330242 rs104893640 rs397515546 rs104893637 rs104893641 rs779413744 rs104893645 rs749845872 rs28939677 rs773642745 rs182164052 rs52826764 rs77245812 rs104893639 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15232-1; Sequence=Displayed; Name=2; IsoId=O15232-2; Sequence=VSP_054374; 


uniprotID: Q96DN6
geneSymbol: MBD6
reactome: R-HSA-5689603;
name: Methyl-CpG-binding domain protein 6 (Methyl-CpG-binding protein MBD6)
length: 1003
go: ENSG00000166987;
sequence:

opentargets:
chromocenter [GO:0010369]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; protein deubiquitination [GO:0016579]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20700456}. Chromosome {ECO:0000269|PubMed:20700456}. Note=Associated with pericentric heterochromatin in about 25% of the cells.


uniprotID: P11226
geneSymbol: MBL2
reactome: R-HSA-166662;R-HSA-166663;
pdb: 1HUP;
length: 248
go: ENSG00000165471;
drug: DB03879;DB04426;DB03194;DB01979;DB03721;DB01818;DB02837;
snps: rs5030737 rs1800450 rs1800451 rs12260094
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:7982896}.
name:
Mannose-binding protein C (MBP-C) (Collectin-1) (MBP1) (Mannan-binding protein) (Mannose-binding lectin)

sequence:

opentargets:
cell surface [GO:0009986]; collagen trimer [GO:0005581]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; mannose binding [GO:0005537]; serine-type endopeptidase activity [GO:0004252]; signaling receptor binding [GO:0005102]; acute-phase response [GO:0006953]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; complement activation, lectin pathway [GO:0001867]; defense response to bacterium [GO:0042742]; defense response to Gram-positive bacterium [GO:0050830]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; innate immune response [GO:0045087]; killing by host of symbiont cells [GO:0051873]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of viral process [GO:0048525]; opsonization [GO:0008228]; positive regulation of phagocytosis [GO:0050766]; response to oxidative stress [GO:0006979]


uniprotID: Q6ZWT7
geneSymbol: MBOAT2
reactome: R-HSA-1482788;R-HSA-1482839;
length: 520
go: ENSG00000143797;
snps: rs16866827
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Lysophospholipid acyltransferase 2 (LPLAT 2) (EC 2.3.1.-) (1-acylglycerophosphate O-acyltransferase) (EC 2.3.1.51) (1-acylglycerophosphoethanolamine O-acyltransferase) (EC 2.3.1.n7) (Lysophosphatidic acid acyltransferase) (LPAAT) (Lyso-PA acyltransferase) (Lysophosphatidylethanolamine acyltransferase) (LPEAT) (Lyso-PE acyltransferase) (Membrane-bound O-acyltransferase domain-containing protein 2) (O-acyltransferase domain-containing protein 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phospholipid biosynthetic process [GO:0008654]


uniprotID: Q96T53
geneSymbol: MBOAT4
reactome: R-HSA-422085;
length: 435
go: ENSG00000177669;
snps: rs7813902 rs16876563
name:
Ghrelin O-acyltransferase (EC 2.3.1.-) (Membrane-bound O-acyltransferase domain-containing protein 4) (O-acyltransferase domain-containing protein 4)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; O-acyltransferase activity [GO:0008374]; serine O-acyltransferase activity [GO:0016412]; peptidyl-serine octanoylation [GO:0018191]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96T53-1; Sequence=Displayed; Name=2; IsoId=Q96T53-2; Sequence=VSP_032958, VSP_032959; Note=No experimental confirmation available.; 

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


uniprotID: Q96N66
geneSymbol: MBOAT7
reactome: R-HSA-1482922;
length: 472
go: ENSG00000125505;
snps: rs17855385 rs35909464
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Lysophospholipid acyltransferase 7 (LPLAT 7) (EC 2.3.1.-) (1-acylglycerophosphatidylinositol O-acyltransferase) (EC 2.3.1.n4) (Bladder and breast carcinoma-overexpressed gene 1 protein) (Leukocyte receptor cluster member 4) (Lysophosphatidylinositol acyltransferase) (LPIAT) (Lyso-PI acyltransferase) (Membrane-bound O-acyltransferase domain-containing protein 7) (O-acyltransferase domain-containing protein 7) (h-mboa-7)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; lysophospholipid acyltransferase activity [GO:0071617]; layer formation in cerebral cortex [GO:0021819]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phospholipid biosynthetic process [GO:0008654]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96N66-1; Sequence=Displayed; Name=2; IsoId=Q96N66-2; Sequence=VSP_030967; Name=3; IsoId=Q96N66-3; Sequence=VSP_030968; 


uniprotID: Q8N8X9
geneSymbol: MAB21L3
name: Protein mab-21-like 3
length: 362
go: ENSG00000173212;
sequence:


uniprotID: P02686
geneSymbol: MBP
pdb: 1BX2;1FV1;1HQR;1K2D;1QCL;1YMM;1ZGL;
name: Myelin basic protein (MBP) (Myelin A1 protein) (Myelin membrane encephalitogenic protein)
length: 304
go: ENSG00000197971;
sequence:

opentargets:
cell periphery [GO:0071944]; cell surface [GO:0009986]; compact myelin [GO:0043218]; internode region of axon [GO:0033269]; intracellular [GO:0005622]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; calmodulin binding [GO:0005516]; protease binding [GO:0002020]; structural constituent of myelin sheath [GO:0019911]; axon ensheathment [GO:0008366]; central nervous system development [GO:0007417]; chemical synaptic transmission [GO:0007268]; immune response [GO:0006955]; maintenance of permeability of blood-brain barrier [GO:0035633]; MAPK cascade [GO:0000165]; membrane organization [GO:0061024]; myelination [GO:0042552]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; positive regulation of chemokine (C-C motif) ligand 2 secretion [GO:1904209]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of metalloendopeptidase activity [GO:1904685]; response to toxic substance [GO:0009636]; sensory perception of sound [GO:0007605]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Golli-MBP1, HOG7; IsoId=P02686-1; Sequence=Displayed; Name=2; Synonyms=Golli-MBP2, HOG5; IsoId=P02686-2; Sequence=VSP_003311; Name=3; Synonyms=MBP1, 21.5 kDa; IsoId=P02686-3; Sequence=VSP_003308, VSP_003309; Note=Contains a non-traditional PY nuclear localization signal. Mutagenesis of Cys-81 to Ser prevents dimerization. {ECO:0000269|PubMed:7544282}; Name=4; Synonyms=MBP2, 20.2 kDa; IsoId=P02686-4; Sequence=VSP_003308, VSP_003309, VSP_003310; Name=5; Synonyms=MBP3, 18.5 kDa; IsoId=P02686-5; Sequence=VSP_003308; Name=6; Synonyms=MBP4, 17.2 kDa; IsoId=P02686-6; Sequence=VSP_003308, VSP_003310; 

location:
SUBCELLULAR LOCATION: Myelin membrane; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic side of myelin.; SUBCELLULAR LOCATION: Isoform 3: Nucleus {ECO:0000269|PubMed:22609403}. Note=Targeted to nucleus in oligodendrocytes.


uniprotID: A6NJ08
geneSymbol: MBD3L5
name: Putative methyl-CpG-binding domain protein 3-like 5 (MBD3-like protein 5)
length: 208
sequence:

opentargets:
nucleus [GO:0005634]; methyl-CpG binding [GO:0008327]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: Q4ZIN3
geneSymbol: TMEM259
name: Membralin (Transmembrane protein 259)
length: 620
go: ENSG00000182087;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; negative regulation of neuron death [GO:1901215]; positive regulation of ERAD pathway [GO:1904294]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long, Membralin-1; IsoId=Q4ZIN3-1; Sequence=Displayed; Name=2; Synonyms=Short, Membralin-2, Membralin-3; IsoId=Q4ZIN3-2; Sequence=VSP_014377, VSP_014378; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8CIV2}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P32245
geneSymbol: MC4R
reactome: R-HSA-375276;R-HSA-418555;
pdb: 2IQP;2IQR;2IQS;2IQU;2IQV;2IQW;
name: Melanocortin receptor 4 (MC4-R)
length: 332
go: ENSG00000166603;
sequence:

opentargets:
integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; melanocortin receptor activity [GO:0004977]; melanocyte-stimulating hormone receptor activity [GO:0004980]; neuropeptide binding [GO:0042923]; peptide hormone binding [GO:0017046]; ubiquitin protein ligase binding [GO:0031625]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; diet induced thermogenesis [GO:0002024]; energy reserve metabolic process [GO:0006112]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; insulin secretion [GO:0030073]; negative regulation of feeding behavior [GO:2000252]; positive regulation of bone resorption [GO:0045780]; regulation of grooming behavior [GO:2000821]; regulation of metabolic process [GO:0019222]; response to insulin [GO:0032868]

snps:
rs372794914 rs13447323 rs13447325 rs121913557 rs121913558 rs121913566 rs13447326 rs121913565 rs121913559 rs121913559 rs2229616 rs13447329 rs13447331 rs13447332 rs13447332 rs121913560 rs121913563 rs13447333 rs121913567 rs193922686 rs52820871 rs13447336 rs187152753 rs1057517991 rs121913562 rs121913561 rs121913564 rs13447337 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25163632}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q6VMQ6
geneSymbol: ATF7IP
reactome: R-HSA-3214841;
pdb: 2RPQ;
length: 1270
go: ENSG00000171681;
snps: rs2231908 rs2231909 rs3213764
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19106100}.
name:
Activating transcription factor 7-interacting protein 1 (ATF-interacting protein) (ATF-IP) (ATF7-interacting protein) (ATFa-associated modulator) (hAM) (MBD1-containing chromatin-associated factor 1) (P621)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; ATPase activity [GO:0016887]; transcription corepressor activity [GO:0003714]; DNA methylation [GO:0006306]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045898]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6VMQ6-1; Sequence=Displayed; Name=2; IsoId=Q6VMQ6-2; Sequence=VSP_024035, VSP_024038, VSP_024039; Note=No experimental confirmation available.; Name=3; IsoId=Q6VMQ6-4; Sequence=VSP_055912; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=Q6VMQ6-5; Sequence=VSP_024035; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P10911
geneSymbol: MCF2
reactome: R-HSA-193634;R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 925
go: ENSG00000101977;
name:
Proto-oncogene DBL (Proto-oncogene MCF-2) [Cleaved into: MCF2-transforming protein; DBL-transforming protein]

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; membrane [GO:0016020]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; cellular response to leukemia inhibitory factor [GO:1990830]; dendrite development [GO:0016358]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; negative regulation of axonogenesis [GO:0050771]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Var.1; IsoId=P10911-1; Sequence=Displayed; Name=2; Synonyms=Var.2; IsoId=P10911-2; Sequence=VSP_008151, VSP_008152; Name=3; Synonyms=Var.3; IsoId=P10911-3; Sequence=VSP_008150; Name=4; Synonyms=Var.4; IsoId=P10911-4; Sequence=VSP_008153; Name=5; IsoId=P10911-5; Sequence=VSP_008150, VSP_008153; Name=6; IsoId=P10911-6; Sequence=VSP_046118, VSP_008151, VSP_008152; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15157669}.; SUBCELLULAR LOCATION: Isoform 1: Membrane.; SUBCELLULAR LOCATION: Isoform 3: Membrane. Note=Colocalizes with CDC42 to plasma membrane.


uniprotID: Q07820
geneSymbol: MCL1
reactome: R-HSA-6785807;
length: 350
go: ENSG00000143384;
snps: rs2737820 rs11580946 rs140449444
pdb:
2KBW;2MHS;2NL9;2NLA;2PQK;3D7V;3IO9;3KJ0;3KJ1;3KJ2;3KZ0;3MK8;3PK1;3TWU;3WIX;3WIY;4BPI;4BPJ;4HW2;4HW3;4HW4;4OQ5;4OQ6;4WGI;4WMR;4WMS;4WMT;4WMU;4WMV;4WMW;4WMX;4ZBF;4ZBI;5C3F;5C6H;5FC4;5FDO;5FDR;5IEZ;5IF4;5JSB;5KU9;5LOF;5MES;5MEV;5UUM;5VKC;5VX2;5W89;5W8F;6B4L;6B4U;6BW2;6BW8;

name:
Induced myeloid leukemia cell differentiation protein Mcl-1 (Bcl-2-like protein 3) (Bcl2-L-3) (Bcl-2-related protein EAT/mcl1) (mcl1/EAT)

sequence:

opentargets:
Bcl-2 family protein complex [GO:0097136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; BH3 domain binding [GO:0051434]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein transmembrane transporter activity [GO:0008320]; cell fate determination [GO:0001709]; cellular homeostasis [GO:0019725]; cytokine-mediated signaling pathway [GO:0019221]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; multicellular organism development [GO:0007275]; negative regulation of anoikis [GO:2000811]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903378]; regulation of response to DNA damage stimulus [GO:2001020]; response to cytokine [GO:0034097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MCL1L, MCL-1L; IsoId=Q07820-1; Sequence=Displayed; Name=2; Synonyms=Delta S, MCL-1S, TM; IsoId=Q07820-2; Sequence=VSP_000532, VSP_000533; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm. Mitochondrion. Nucleus, nucleoplasm. Note=Cytoplasmic, associated with mitochondria.


uniprotID: P15529
geneSymbol: CD46
reactome: R-HSA-977606;
pdb: 1CKL;1HR4;2O39;3INB;3L89;3O8E;5FO8;
name: Membrane cofactor protein (TLX) (Trophoblast leukocyte common antigen) (CD antigen CD46)
length: 392
go: ENSG00000117335;
snps: rs138843816 rs121909591 rs780693519 rs759136081 rs121909589 rs17006830 rs41317833 rs35366573
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; inner acrosomal membrane [GO:0002079]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; adaptive immune response [GO:0002250]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; interleukin-10 production [GO:0032613]; negative regulation of gene expression [GO:0010629]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of memory T cell differentiation [GO:0043382]; positive regulation of regulatory T cell differentiation [GO:0045591]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transforming growth factor beta production [GO:0071636]; regulation of complement activation [GO:0030449]; regulation of Notch signaling pathway [GO:0008593]; sequestering of extracellular ligand from receptor [GO:0035581]; single fertilization [GO:0007338]; T cell mediated immunity [GO:0002456]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=16;  Comment=Additional isoforms seem to exist. The complete sequences of the isoforms are not known. Isoforms are classified as alpha (isoform C and isoform D), beta (isoform E and isoform F), gamma (isoform A and isoform B) and delta (isoform N). Isoforms gamma are preferentially expressed in EBV-B cells and leukemic cells. Isoforms alpha (66 kDa) and isoforms beta (56 kDa) are found in all tissues except sperm. Isoform delta is expressed in spermatozoa. The exon 9 is specifically deleted in some placentae isoforms. All tissues differentially splice exon 13.; Name=A; Synonyms=no del, ABC1; IsoId=P15529-1; Sequence=Displayed; Name=B; Synonyms=del 13, ABC2; IsoId=P15529-2; Sequence=VSP_001204; Name=C; Synonyms=del 7, BC1; IsoId=P15529-11; Sequence=VSP_009174; Name=D; Synonyms=del 7-13, BC2; IsoId=P15529-3; Sequence=VSP_009174, VSP_001204; Name=E; Synonyms=del 7-8, C1; IsoId=P15529-12; Sequence=VSP_009175; Name=F; Synonyms=del 7-8-13, C2; IsoId=P15529-4; Sequence=VSP_009175, VSP_001204; Name=G; Synonyms=del 9; IsoId=P15529-13; Sequence=VSP_009177; Name=H; Synonyms=del 9-13; IsoId=P15529-5; Sequence=VSP_009177, VSP_001204; Name=I; Synonyms=del 7-9; IsoId=P15529-14; Sequence=VSP_009174, VSP_009177; Name=J; Synonyms=del 7-9-13; IsoId=P15529-6; Sequence=VSP_009174, VSP_009177, VSP_001204; Name=K; Synonyms=del 7-8-9; IsoId=P15529-15; Sequence=VSP_009176; Name=L; Synonyms=del 7-8-9-13; IsoId=P15529-7; Sequence=VSP_009176, VSP_001204; Name=M; Synonyms=del 7-12a-13; IsoId=P15529-8; Sequence=VSP_009174, VSP_001202, VSP_001203; Name=N; Synonyms=del 7-8-12-13; IsoId=P15529-9; Sequence=VSP_009175, VSP_009178; Note=No experimental confirmation available.; Name=2; IsoId=P15529-10; Sequence=VSP_001201; Name=3; IsoId=P15529-16; Sequence=VSP_019005, VSP_019006, VSP_001204; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome inner membrane {ECO:0000269|PubMed:12112588, ECO:0000269|PubMed:14597734, ECO:0000269|PubMed:15307194}; Single-pass type I membrane protein {ECO:0000269|PubMed:12112588, ECO:0000269|PubMed:14597734, ECO:0000269|PubMed:15307194}. Note=Inner acrosomal membrane of spermatozoa. Internalized upon binding of Measles virus, Herpesvirus 6 or Neisseria gonorrhoeae, which results in an increased susceptibility of infected cells to complement-mediated injury. In cancer cells or cells infected by Neisseria, shedding leads to a soluble peptide.


uniprotID: P08235
geneSymbol: NR3C2
reactome: R-HSA-3371497;R-HSA-383280;R-HSA-4090294;
name: Mineralocorticoid receptor (MR) (Nuclear receptor subfamily 3 group C member 2)
length: 984
go: ENSG00000151623;
drug: DB04630;DB01134;DB01395;DB00700;DB01023;DB00687;DB00588;DB00393;DB00396;DB00421;
snps: rs5522 rs5523 rs5526 rs5527 rs41511344 rs13306592
pdb:
1Y9R;1YA3;2A3I;2AA2;2AA5;2AA6;2AA7;2AAX;2AB2;2ABI;2OAX;3VHU;3VHV;3WFF;3WFG;4PF3;4TNT;4UDA;4UDB;5HCV;5L7E;5L7G;5L7H;5MWP;5MWY;

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; nucleoplasm [GO:0005654]; receptor complex [GO:0043235]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; steroid binding [GO:0005496]; steroid hormone receptor activity [GO:0003707]; zinc ion binding [GO:0008270]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P08235-1; Sequence=Displayed; Name=2; IsoId=P08235-2; Sequence=VSP_007358, VSP_007359; Note=Lacks steroid-binding activity and acts as ligand-independent transactivator.; Name=3; IsoId=P08235-3; Sequence=VSP_007357; Name=4; Synonyms=Delta; IsoId=P08235-4; Sequence=VSP_007360; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Cytoplasmic and nuclear in the absence of ligand; nuclear after ligand-binding. When bound to HSD11B2, it is found associated with the endoplasmic reticulum membrane.


uniprotID: Q14676
geneSymbol: MDC1
reactome: R-HSA-3108214;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-6796648;R-HSA-69473;
pdb: 2ADO;2AZM;2ETX;3K05;3UEO;3UMZ;3UN0;3UNM;3UNN;3UOT;
name: Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1)
length: 2089
go: ENSG00000137337;
sequence:

opentargets:
chromosome [GO:0005694]; focal adhesion [GO:0005925]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; FHA domain binding [GO:0070975]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; double-strand break repair via nonhomologous end joining [GO:0006303]; intra-S DNA damage checkpoint [GO:0031573]

snps:
rs28986464 rs2517560 rs9262152 rs2075015 rs28986465 rs58344693 rs2844707 rs28986467 rs28994869 rs28987085 rs9461623 rs3132589 rs3130645 rs17292678 rs28994871 rs28994873 rs28994874 rs28994875 rs28994876 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14676-1; Sequence=Displayed; Name=2; IsoId=Q14676-2; Sequence=VSP_014593; Name=3; IsoId=Q14676-3; Sequence=VSP_034104; Note=No experimental confirmation available.; Name=4; IsoId=Q14676-4; Sequence=VSP_014593, VSP_034103; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12475977, ECO:0000269|PubMed:12499369, ECO:0000269|PubMed:12551934, ECO:0000269|PubMed:12607003, ECO:0000269|PubMed:12607004, ECO:0000269|PubMed:12607005, ECO:0000269|PubMed:12611903, ECO:0000269|PubMed:14695167, ECO:0000269|PubMed:15201865, ECO:0000269|PubMed:15377652, ECO:0000269|PubMed:20008512}. Chromosome {ECO:0000250}. Note=Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AFX. Colocalizes with APTX at sites of DNA double-strand breaks.


uniprotID: Q8NE86
geneSymbol: MCU
reactome: R-HSA-8949215;R-HSA-8949664;
pdb: 4XSJ;4XTB;5BZ6;5KUE;5KUG;5KUI;5KUJ;
name: Calcium uniporter protein, mitochondrial (HsMCU) (Coiled-coil domain-containing protein 109A)
length: 351
go: ENSG00000156026;
sequence:

opentargets:
calcium channel complex [GO:0034704]; integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; uniplex complex [GO:1990246]; calcium channel activity [GO:0005262]; identical protein binding [GO:0042802]; uniporter activity [GO:0015292]; calcium import into the mitochondrion [GO:0036444]; calcium-mediated signaling [GO:0019722]; glucose homeostasis [GO:0042593]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; positive regulation of insulin secretion [GO:0032024]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; protein complex oligomerization [GO:0051259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NE86-1; Sequence=Displayed; Name=2; IsoId=Q8NE86-2; Sequence=VSP_024263; Note=No experimental confirmation available.; Name=3; IsoId=Q8NE86-3; Sequence=VSP_041687; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:21685886, ECO:0000269|PubMed:21685888, ECO:0000269|PubMed:23755363, ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:27099988, ECO:0000305|PubMed:26341627}; Multi-pass membrane protein {ECO:0000269|PubMed:21685886, ECO:0000269|PubMed:21685888, ECO:0000269|PubMed:24231807}.


uniprotID: P40926
geneSymbol: MDH2
reactome: R-HSA-70263;R-HSA-71403;
pdb: 2DFD;4WLE;4WLF;4WLN;4WLO;4WLU;4WLV;
name: Malate dehydrogenase, mitochondrial (EC 1.1.1.37)
length: 338
go: ENSG00000146701;
drug: DB04272;DB00157;
snps: rs6720 rs782308462 rs375002796 rs1057519566
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P04636}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; L-malate dehydrogenase activity [GO:0030060]; malate dehydrogenase (NADP+) activity [GO:0046554]; protein self-association [GO:0043621]; RNA binding [GO:0003723]; aerobic respiration [GO:0009060]; gluconeogenesis [GO:0006094]; internal protein amino acid acetylation [GO:0006475]; 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=2;  Name=1; IsoId=P40926-1; Sequence=Displayed; Name=2; IsoId=P40926-2; Sequence=VSP_055312; Note=No experimental confirmation available.; 


uniprotID: Q9BRS8
geneSymbol: LARP6
pdb: 2MTF;2MTG;
name: La-related protein 6 (Acheron) (Achn) (La ribonucleoprotein domain family member 6)
length: 491
go: ENSG00000166173;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; mRNA 5'-UTR binding [GO:0048027]; myosin binding [GO:0017022]; RNA stem-loop binding [GO:0035613]; sequence-specific mRNA binding [GO:1990825]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of mRNA binding [GO:1902416]; positive regulation of translation [GO:0045727]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRS8-1; Sequence=Displayed; Name=2; IsoId=Q9BRS8-2; Sequence=VSP_042565; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17383118}. Nucleus {ECO:0000269|PubMed:17383118}. Note=Shuttles between the nucleus and the cytoplasm.


uniprotID: P16150
geneSymbol: SPN
reactome: R-HSA-202733;R-HSA-210991;
length: 400
go: ENSG00000197471;
snps: rs2229653 rs2229654
name:
Leukosialin (GPL115) (Galactoglycoprotein) (GALGP) (Leukocyte sialoglycoprotein) (Sialophorin) (CD antigen CD43) [Cleaved into: CD43 cytoplasmic tail (CD43-ct) (CD43ct)]

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; PML body [GO:0016605]; uropod [GO:0001931]; heat shock protein binding [GO:0031072]; Hsp70 protein binding [GO:0030544]; transmembrane signaling receptor activity [GO:0004888]; cellular defense response [GO:0006968]; chemotaxis [GO:0006935]; defense response to bacterium [GO:0042742]; establishment or maintenance of cell polarity [GO:0007163]; immune response [GO:0006955]; interferon-gamma production [GO:0032609]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; negative regulation of cell adhesion [GO:0007162]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of T cell migration [GO:2000406]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; regulation of T cell migration [GO:2000404]; signal transduction [GO:0007165]; T-helper 1 cell lineage commitment [GO:0002296]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, microvillus {ECO:0000250|UniProtKB:P13838}. Cell projection, uropodium {ECO:0000250|UniProtKB:P15702}. Note=Localizes to the uropodium and microvilli via its interaction with ERM proteins (EZR, RDX and MSN). {ECO:0000250|UniProtKB:P13838, ECO:0000250|UniProtKB:P15702}.; SUBCELLULAR LOCATION: CD43 cytoplasmic tail: Nucleus {ECO:0000250|UniProtKB:P15702}. Nucleus, PML body {ECO:0000250|UniProtKB:P15702}.


uniprotID: O95970
geneSymbol: LGI1
reactome: R-HSA-5682910;
pdb: 5Y2Z;5Y30;5Y31;
name: Leucine-rich glioma-inactivated protein 1 (Epitempin-1)
length: 557
go: ENSG00000108231;
sequence:

opentargets:
cell junction [GO:0030054]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; synaptic cleft [GO:0043083]; signaling receptor binding [GO:0005102]; axon guidance [GO:0007411]; cell proliferation [GO:0008283]; nervous system development [GO:0007399]; neuron projection development [GO:0031175]; neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0099645]; positive regulation of cell growth [GO:0030307]; positive regulation of synaptic transmission [GO:0050806]; protein homooligomerization [GO:0051260]

snps:
rs797044996 rs797044996 rs104894166 rs119488100 rs119488099 rs104894167 rs28939075 rs28937874 rs797044999 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95970-1; Sequence=Displayed; Name=2; IsoId=O95970-2; Sequence=VSP_007678, VSP_007679; Name=3; IsoId=O95970-3; Sequence=VSP_038234; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16787412, ECO:0000269|PubMed:17067999, ECO:0000269|PubMed:17296837}. Cell junction, synapse {ECO:0000250}. Note=Isoform 1 but not isoform 2 is secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum.


uniprotID: Q2TAK8
geneSymbol: MUM1
pdb: 3PMI;
length: 710
snps: rs3826942 rs34502536
name:
PWWP domain-containing protein MUM1 (Mutated melanoma-associated antigen 1) (MUM-1) (Protein expandere)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; nucleosome binding [GO:0031491]; chromatin organization [GO:0006325]; DNA repair [GO:0006281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2TAK8-1; Sequence=Displayed; Name=2; IsoId=Q2TAK8-2; Sequence=VSP_026684, VSP_026685; Name=3; IsoId=Q2TAK8-3; Sequence=VSP_053986; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20347427}. Note=Recruited to DNA damage sites via its interaction with the BRCT domain of TP53BP1.


uniprotID: Q9BYS8
geneSymbol: LRRC2
name: Leucine-rich repeat-containing protein 2
length: 371
go: ENSG00000163827;
snps: rs28687398 rs17286758 rs17078944
sequence:


uniprotID: Q9BY71
geneSymbol: LRRC3
name: Leucine-rich repeat-containing protein 3
length: 257
go: ENSG00000160233;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q13449
geneSymbol: LSAMP
reactome: R-HSA-163125;
name: Limbic system-associated membrane protein (LSAMP) (IgLON family member 3)
length: 338
go: ENSG00000185565;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cytosol [GO:0005829]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; locomotory exploration behavior [GO:0035641]; nervous system development [GO:0007399]


uniprotID: Q6ZRR7
geneSymbol: LRRC9
name: Leucine-rich repeat-containing protein 9
length: 1453
go: ENSG00000131951;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZRR7-1; Sequence=Displayed; Name=2; IsoId=Q6ZRR7-2; Sequence=VSP_033990, VSP_033991; Note=No experimental confirmation available.; 


uniprotID: O75325
geneSymbol: LRRN2
length: 713
go: ENSG00000170382;
snps: rs3789044 rs36012907 rs3747631 rs34771052 rs11588857
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Leucine-rich repeat neuronal protein 2 (Glioma amplified on chromosome 1 protein) (Leucine-rich repeat neuronal protein 5)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; signal transduction [GO:0007165]


uniprotID: Q9H3W5
geneSymbol: LRRN3
name: Leucine-rich repeat neuronal protein 3 (Neuronal leucine-rich repeat protein 3) (NLRR-3)
length: 708
go: ENSG00000173114;
opentargets: integral component of membrane [GO:0016021]; positive regulation of synapse assembly [GO:0051965]
snps: rs9942557
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: O43300
geneSymbol: LRRTM2
reactome: R-HSA-6794361;
name: Leucine-rich repeat transmembrane neuronal protein 2 (Leucine-rich repeat neuronal 2 protein)
length: 516
go: ENSG00000146006;
sequence:

opentargets:
cell junction [GO:0030054]; excitatory synapse [GO:0060076]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of postsynaptic density membrane [GO:0099061]; integral component of postsynaptic specialization membrane [GO:0099060]; Schaffer collateral - CA1 synapse [GO:0098685]; neurexin family protein binding [GO:0042043]; long-term synaptic potentiation [GO:0060291]; negative regulation of receptor internalization [GO:0002091]; positive regulation of synapse assembly [GO:0051965]; regulation of postsynaptic density assembly [GO:0099151]; synapse organization [GO:0050808]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Localized to excitatory synapses. {ECO:0000250}.


uniprotID: Q9H089
geneSymbol: LSG1
name: Large subunit GTPase 1 homolog (hLsg1) (EC 3.6.1.-)
length: 658
go: ENSG00000041802;
snps: rs34423045 rs1675953
sequence:

opentargets:
Cajal body [GO:0015030]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; nuclear export [GO:0051168]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16209721}. Endoplasmic reticulum {ECO:0000269|PubMed:16209721}. Nucleus, Cajal body {ECO:0000269|PubMed:16209721}. Note=Shuttles between the Cajal bodies in the nucleus and the endoplasmic reticulum.


uniprotID: Q86VH4
geneSymbol: LRRTM4
reactome: R-HSA-6794361;
name: Leucine-rich repeat transmembrane neuronal protein 4
length: 590
go: ENSG00000176204;
sequence:

opentargets:
cell junction [GO:0030054]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; postsynaptic membrane [GO:0045211]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VH4-1; Sequence=Displayed; Name=2; IsoId=Q86VH4-2; Sequence=VSP_030989, VSP_030990; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q969L4
geneSymbol: LSM10
reactome: R-HSA-109688;R-HSA-111367;R-HSA-77588;
name: U7 snRNA-associated Sm-like protein LSm10
length: 123
go: ENSG00000181817;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11574479}.
sequence:
MAVSHSVKERTISENSLIILLQGLQGRVTTVDLRDESVAHGRIDNVDAFMNIRLAKVTYTDRWGHQVKLDDLFVTGRNVRYVHIPDDVNITSTIEQQLQIIHRVRNFGGKGQGRWEFPPKNCK

opentargets:
Cajal body [GO:0015030]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U7 snRNP [GO:0005683]; histone pre-mRNA DCP binding [GO:0071208]; U7 snRNA binding [GO:0071209]; histone mRNA metabolic process [GO:0008334]; mRNA processing [GO:0006397]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; RNA splicing [GO:0008380]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: P83369
geneSymbol: LSM11
reactome: R-HSA-109688;R-HSA-111367;R-HSA-77588;
name: U7 snRNA-associated Sm-like protein LSm11
length: 360
go: ENSG00000155858;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12975319}.
sequence:

opentargets:
histone pre-mRNA 3'end processing complex [GO:0071204]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; U7 snRNP [GO:0005683]; U7 snRNA binding [GO:0071209]; histone mRNA metabolic process [GO:0008334]; mRNA 3'-end processing by stem-loop binding and cleavage [GO:0006398]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: Q9UFC0
geneSymbol: LRWD1
length: 647
go: ENSG00000161036;
name:
Leucine-rich repeat and WD repeat-containing protein 1 (Centromere protein 33) (CENP-33) (Origin recognition complex-associated protein) (ORC-associated protein) (ORCA)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; kinetochore [GO:0000776]; microtubule organizing center [GO:0005815]; nuclear origin of replication recognition complex [GO:0005664]; nucleolus [GO:0005730]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; telomeric heterochromatin [GO:0031933]; chromatin binding [GO:0003682]; methyl-CpG binding [GO:0008327]; methylated histone binding [GO:0035064]; chromatin organization [GO:0006325]; DNA replication initiation [GO:0006270]; establishment of protein localization to chromatin [GO:0071169]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere. Chromosome, telomere. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8BUI3}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}. Note=Localizes to heterochromatin during G1 phase. Restricted to centromeres or telomeres as cells progress though S phase. When cells enter mitosis, relocalizes to centromeres. Recruitment to pericentric heterochromatin largely depends on the presence of H3K9me3.


uniprotID: O15116
geneSymbol: LSM1
reactome: R-HSA-430039;
length: 133
go: ENSG00000175324;
name:
U6 snRNA-associated Sm-like protein LSm1 (Cancer-associated Sm-like) (Small nuclear ribonuclear CaSm)

sequence:
MNYMPGTASLIEDIDKKHLVLLRDGRTLIGFLRSIDQFANLVLHQTVERIHVGKKYGDIPRGIFVVRGENVVLLGEIDLEKESDTPLQQVSIEEILEEQRVEQQTKLEAEKLKVQALKDRGLSIPRADTLDEY

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; Lsm1-7-Pat1 complex [GO:1990726]; messenger ribonucleoprotein complex [GO:1990124]; mRNA cap binding complex [GO:0005845]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; P-body [GO:0000932]; mRNA binding [GO:0003729]; pre-mRNA binding [GO:0036002]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; histone mRNA catabolic process [GO:0071044]; mRNA processing [GO:0006397]; negative regulation of neuron differentiation [GO:0045665]; RNA metabolic process [GO:0016070]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]; stem cell population maintenance [GO:0019827]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:18172165}. Cytoplasm, P-body {ECO:0000305|PubMed:18172165}.


uniprotID: Q9Y4Z0
geneSymbol: LSM4
reactome: R-HSA-430039;R-HSA-72163;
pdb: 3JCR;5O9Z;
name: U6 snRNA-associated Sm-like protein LSm4 (Glycine-rich protein) (GRP)
length: 139
go: ENSG00000130520;
sequence:
MLPLSLLKTAQNHPMLVELKNGETYNGHLVSCDNWMNINLREVICTSRDGDKFWRMPECYIRGSTIKYLRIPDEIIDMVKEEVVAKGRGRGGLQQQKQQKGRGMGGAGRGVFGGRGRGGIPGTGRGQPEKKPGRQAGKQ

opentargets:
cytosol [GO:0005829]; Lsm2-8 complex [GO:0120115]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; protein-containing complex [GO:0032991]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; PH domain binding [GO:0042731]; RNA binding [GO:0003723]; U6 snRNA binding [GO:0017070]; cytoplasmic mRNA processing body assembly [GO:0033962]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; spliceosomal snRNP assembly [GO:0000387]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.


uniprotID: Q8IYB1
geneSymbol: MB21D2
name: Protein MB21D2 (Mab-21 domain-containing protein 2)
length: 491
go: ENSG00000180611;
opentargets: cadherin binding [GO:0045296]; protein-containing complex binding [GO:0044877]
sequence:


uniprotID: Q02978
geneSymbol: SLC25A11
reactome: R-HSA-70263;
name: Mitochondrial 2-oxoglutarate/malate carrier protein (OGCP) (Solute carrier family 25 member 11)
length: 314
go: ENSG00000108528;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; oxoglutarate:malate antiporter activity [GO:0015367]; RNA binding [GO:0003723]; gluconeogenesis [GO:0006094]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02978-1; Sequence=Displayed; Name=2; IsoId=Q02978-2; Sequence=VSP_046745; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P97700}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P97700}.


uniprotID: Q02779
geneSymbol: MAP3K10
pdb: 2RF0;
length: 954
go: ENSG00000130758;
snps: rs36102209
name:
Mitogen-activated protein kinase kinase kinase 10 (EC 2.7.11.25) (Mixed lineage kinase 2) (Protein kinase MST)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; bHLH transcription factor binding [GO:0043425]; JUN kinase kinase kinase activity [GO:0004706]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; transcription corepressor activity [GO:0003714]; activation of JUN kinase activity [GO:0007257]; apoptotic process [GO:0006915]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of apoptotic process [GO:0043065]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; protein autophosphorylation [GO:0046777]; signal transduction [GO:0007165]; smoothened signaling pathway [GO:0007224]


uniprotID: Q56UN5
geneSymbol: MAP3K19
length: 1328
go: ENSG00000176601;
snps: rs16831235 rs1112542 rs3905317
name:
Mitogen-activated protein kinase kinase kinase 19 (EC 2.7.11.1) (Regulated in COPD, protein kinase) (SPS1/STE20-related protein kinase YSK4)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q56UN5-1; Sequence=Displayed; Name=2; IsoId=Q56UN5-2; Sequence=VSP_017927, VSP_017928; Name=3; IsoId=Q56UN5-3; Sequence=VSP_017924; Name=4; IsoId=Q56UN5-4; Sequence=VSP_017925, VSP_017926; Name=5; IsoId=Q56UN5-5; Sequence=VSP_017925; Name=6; IsoId=Q56UN5-6; Sequence=VSP_017922, VSP_017923; Name=7; IsoId=Q56UN5-7; Sequence=VSP_055367; Note=No experimental confirmation available.; 


uniprotID: Q9NR34
geneSymbol: MAN1C1
reactome: R-HSA-6811438;R-HSA-964827;
length: 630
go: ENSG00000117643;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC (EC 3.2.1.113) (HMIC) (Mannosidase alpha class 1C member 1) (Processing alpha-1,2-mannosidase IC) (Alpha-1,2-mannosidase IC)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; calcium ion binding [GO:0005509]; mannosyl-oligosaccharide 1,2-alpha-mannosidase activity [GO:0004571]; Golgi apparatus mannose trimming [GO:1904381]; N-glycan processing [GO:0006491]; protein N-linked glycosylation [GO:0006487]


uniprotID: O43283
geneSymbol: MAP3K13
length: 966
go: ENSG00000073803;
snps: rs35266179 rs56408536 rs56309231 rs3732576
name:
Mitogen-activated protein kinase kinase kinase 13 (EC 2.7.11.25) (Leucine zipper-bearing kinase) (Mixed lineage kinase) (MLK)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; IkappaB kinase complex binding [GO:0106137]; JUN kinase kinase kinase activity [GO:0004706]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; activation of JNKK activity [GO:0007256]; activation of JUN kinase activity [GO:0007257]; activation of MAPKK activity [GO:0000186]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of axon extension [GO:0045773]; positive regulation of branching morphogenesis of a nerve [GO:1905492]; positive regulation of neuron maturation [GO:0014042]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O43283-1; Sequence=Displayed; Name=2; IsoId=O43283-3; Sequence=VSP_036567, VSP_036568; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=O43283-4; Sequence=VSP_036563, VSP_036566; Name=4; IsoId=O43283-5; Sequence=VSP_036562, VSP_036569; Name=5; IsoId=O43283-6; Sequence=VSP_036564, VSP_036565; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9353328}. Membrane {ECO:0000269|PubMed:9353328}; Peripheral membrane protein {ECO:0000269|PubMed:9353328}.


uniprotID: O60476
geneSymbol: MAN1A2
reactome: R-HSA-6811438;R-HSA-964827;
length: 641
go: ENSG00000198162;
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB (EC 3.2.1.113) (Mannosidase alpha class 1A member 2) (Processing alpha-1,2-mannosidase IB) (Alpha-1,2-mannosidase IB)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; mannosyl-oligosaccharide 1,2-alpha-mannosidase activity [GO:0004571]; Golgi apparatus mannose trimming [GO:1904381]; lung alveolus development [GO:0048286]; N-glycan processing [GO:0006491]; protein glycosylation [GO:0006486]; respiratory gaseous exchange [GO:0007585]


uniprotID: Q99558
geneSymbol: MAP3K14
reactome: R-HSA-389357;R-HSA-5607761;R-HSA-5668541;R-HSA-5676590;R-HSA-5676594;
pdb: 4DN5;4G3D;4IDT;4IDV;
length: 947
go: ENSG00000006062;
snps: rs11574819 rs11574820 rs11867907 rs56302559 rs56036201
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Mitogen-activated protein kinase kinase kinase 14 (EC 2.7.11.25) (NF-kappa-beta-inducing kinase) (HsNIK) (Serine/threonine-protein kinase NIK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; MAP kinase kinase kinase activity [GO:0004709]; NF-kappaB-inducing kinase activity [GO:0004704]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; cellular response to mechanical stimulus [GO:0071260]; defense response to virus [GO:0051607]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; immune response [GO:0006955]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]; tumor necrosis factor-mediated signaling pathway [GO:0033209]


uniprotID: Q3KQU3
geneSymbol: MAP7D1
length: 841
go: ENSG00000116871;
snps: rs2296266 rs12563354
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15561729}.
name:
MAP7 domain-containing protein 1 (Arginine/proline-rich coiled-coil domain-containing protein 1) (Proline/arginine-rich coiled-coil domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; spindle [GO:0005819]; microtubule cytoskeleton organization [GO:0000226]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q3KQU3-1; Sequence=Displayed; Name=2; IsoId=Q3KQU3-2; Sequence=VSP_028484, VSP_028488; Name=3; IsoId=Q3KQU3-3; Sequence=VSP_028483, VSP_028486, VSP_028487, VSP_028488; Note=No experimental confirmation available.; Name=4; IsoId=Q3KQU3-4; Sequence=VSP_028485, VSP_028488; 


uniprotID: Q8IWC1
geneSymbol: MAP7D3
name: MAP7 domain-containing protein 3
length: 876
go: ENSG00000129680;
snps: rs1055497 rs748582851 rs2273221
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; spindle [GO:0005819]; microtubule binding [GO:0008017]; tubulin binding [GO:0015631]; microtubule cytoskeleton organization [GO:0000226]; microtubule polymerization [GO:0046785]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWC1-1; Sequence=Displayed; Name=2; IsoId=Q8IWC1-2; Sequence=VSP_028499; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWC1-3; Sequence=VSP_028498; Note=No experimental confirmation available.; Name=4; IsoId=Q8IWC1-4; Sequence=VSP_045008; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15561729}. Note=Localizes to the microtubules throughout mitosis. {ECO:0000269|PubMed:22142902}.


uniprotID: O60336
geneSymbol: MAPKBP1
name: Mitogen-activated protein kinase-binding protein 1 (JNK-binding protein 1) (JNKBP-1)
length: 1514
go: ENSG00000137802;
snps: rs4354909 rs1201689 rs1057519305 rs3959569
sequence:

opentargets:
cytoplasm [GO:0005737]; mitotic spindle pole [GO:0097431]; nucleus [GO:0005634]; negative regulation of defense response to bacterium [GO:1900425]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interleukin-8 secretion [GO:2000483]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O60336-1; Sequence=Displayed; Name=2; IsoId=O60336-2; Sequence=VSP_033633, VSP_033634; Note=No experimental confirmation available.; Name=3; IsoId=O60336-3; Sequence=VSP_033632, VSP_033635; Name=4; IsoId=O60336-4; Sequence=VSP_033629; Note=No experimental confirmation available.; Name=5; IsoId=O60336-5; Sequence=VSP_033630, VSP_033631; Note=No experimental confirmation available.; Name=6; IsoId=O60336-6; Sequence=VSP_033633; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22700971, ECO:0000269|PubMed:28089251}. Nucleus {ECO:0000269|PubMed:22700971}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28089251}. Note=Not detected in the cilium. Localized around the poles of the mitotic spindle from prophase to anaphase in mitotic cells. {ECO:0000269|PubMed:28089251}.


uniprotID: O95382
geneSymbol: MAP3K6
length: 1288
go: ENSG00000142733;
snps: rs1138294 rs11247641 rs55671988 rs35659744 rs55869163 rs56359841 rs17856498 rs55990440 rs17162549
name:
Mitogen-activated protein kinase kinase kinase 6 (EC 2.7.11.25) (Apoptosis signal-regulating kinase 2)

sequence:

opentargets:
intracellular [GO:0005622]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; MAP kinase kinase kinase activity [GO:0004709]; protein kinase activity [GO:0004672]; activation of JUN kinase activity [GO:0007257]; activation of MAPKK activity [GO:0000186]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95382-1; Sequence=Displayed; Name=2; IsoId=O95382-2; Sequence=VSP_026201, VSP_026203, VSP_026204; Note=No experimental confirmation available.; Name=3; IsoId=O95382-3; Sequence=VSP_026202; Note=No experimental confirmation available.; 


uniprotID: O15525
geneSymbol: MAFG
reactome: R-HSA-983231;
name: Transcription factor MafG (V-maf musculoaponeurotic fibrosarcoma oncogene homolog G) (hMAF)
length: 162
go: ENSG00000197063;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:11154691}.
sequence:
MTTPNKGNKALKVKREPGENGTSLTDEELVTMSVRELNQHLRGLSKEEIVQLKQRRRTLKNRGYAASCRVKRVTQKEELEKQKAELQQEVEKLASENASMKLELDALRSKYEALQTFARTVARSPVAPARGPLAAGLGPLVPGKVAATSVITIVKSKTDARS

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; 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]; sequence-specific DNA binding [GO:0043565]; adult behavior [GO:0030534]; blood coagulation [GO:0007596]; in utero embryonic development [GO:0001701]; regulation of cell proliferation [GO:0042127]; regulation of cellular pH [GO:0030641]; regulation of epidermal cell differentiation [GO:0045604]


uniprotID: P43362
geneSymbol: MAGEA9; MAGEA9B
name: Melanoma-associated antigen 9 (Cancer/testis antigen 1.9) (CT1.9) (MAGE-9 antigen)
length: 315
go: ENSG00000123584;ENSG00000267978;
snps: rs202146513
sequence:


uniprotID: P43365
geneSymbol: MAGEA12
length: 314
go: ENSG00000213401;
snps: rs16996512
name:
Melanoma-associated antigen 12 (Cancer/testis antigen 1.12) (CT1.12) (MAGE-12 antigen) (MAGE12F antigen)

sequence:


uniprotID: Q8NHW3
geneSymbol: MAFA
reactome: R-HSA-210745;
pdb: 4EOT;
length: 353
go: ENSG00000182759;
name:
Transcription factor MafA (Pancreatic beta-cell-specific transcriptional activator) (RIPE3b1 factor) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog A)

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]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; insulin secretion [GO:0030073]; nitric oxide mediated signal transduction [GO:0007263]; regulation of transcription, DNA-templated [GO:0006355]; response to glucose [GO:0009749]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:12011435, ECO:0000269|PubMed:12917329}.


uniprotID: O15479
geneSymbol: MAGEB2
length: 319
go: ENSG00000099399;
snps: rs2529541 rs5972090
name:
Melanoma-associated antigen B2 (Cancer/testis antigen 3.2) (CT3.2) (DSS-AHC critical interval MAGE superfamily 6) (DAM6) (MAGE XP-2 antigen) (MAGE-B2 antigen)

sequence:


uniprotID: Q969L2
geneSymbol: MAL2
name: Protein MAL2
length: 176
go: ENSG00000147676;
snps: rs2303398
sequence:
MSAGGASVPPPPNPAVSFPPPRVTLPAGPDILRTYSGAFVCLEILFGGLVWILVASSNVPLPLLQGWVMFVSVTAFFFSLLFLGMFLSGMVAQIDANWNFLDFAYHFTVFVFYFGAFLLEAAATSLHDLHCNTTITGQPLLSDNQYNINVAASIFAFMTTACYGCSLGLALRRWRP

opentargets:
apical plasma membrane [GO:0016324]; endomembrane system [GO:0012505]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; structural constituent of myelin sheath [GO:0019911]; myelination [GO:0042552]; transcytosis [GO:0045056]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Endomembrane system. Cytoplasm, perinuclear region. Note=Associated with lipid rafts. In polarized epithelial cells, restricted to the apical surface. In hepatocytes, as well as in polarized hepatoma Hep-G2 cells, found in the canalicular membrane, equivalent to the apical surface, beneath the canalicular actin cytoskeleton. In non-polarized Hep-G2 cells, distributed to the perinuclear region.


uniprotID: P20794
geneSymbol: MAK
name: Serine/threonine-protein kinase MAK (EC 2.7.11.1) (Male germ cell-associated kinase)
length: 623
go: ENSG00000111837;
sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; cilium [GO:0005929]; cytoplasm [GO:0005737]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; motile cilium [GO:0031514]; nucleus [GO:0005634]; photoreceptor connecting cilium [GO:0032391]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; transcription coactivator activity [GO:0003713]; cell differentiation [GO:0030154]; cilium assembly [GO:0060271]; intracellular signal transduction [GO:0035556]; intraciliary transport [GO:0042073]; multicellular organism development [GO:0007275]; negative regulation of non-motile cilium assembly [GO:1902856]; photoreceptor cell maintenance [GO:0045494]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]; spermatogenesis [GO:0007283]

snps:
rs387906647 rs754916169 rs387906646 rs387906648 rs750559316 rs56215624 rs371971492 rs17579447 rs55773478 rs567083 rs56217305 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P20794-1; Sequence=Displayed; Name=2; IsoId=P20794-2; Sequence=VSP_042470; Name=3; IsoId=P20794-3; Sequence=VSP_042471; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Midbody. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Photoreceptor inner segment. Note=Localized in both the connecting cilia and the outer segment axonemes (By similarity). Localized uniformly in nuclei during interphase, to the mitotic spindle and centrosomes during metaphase and anaphase, and also to midbody at anaphase until telophase. {ECO:0000250}.


uniprotID: Q86UL8
geneSymbol: MAGI2
reactome: R-HSA-373753;
pdb: 1UEP;1UEQ;1UEW;1UJV;1WFV;
length: 1455
go: ENSG00000187391;
name:
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 (Atrophin-1-interacting protein 1) (AIP-1) (Atrophin-1-interacting protein A) (Membrane-associated guanylate kinase inverted 2) (MAGI-2)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; late endosome [GO:0005770]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; slit diaphragm [GO:0036057]; synapse [GO:0045202]; beta-1 adrenergic receptor binding [GO:0031697]; phosphatase binding [GO:0019902]; receptor signaling complex scaffold activity [GO:0030159]; SMAD binding [GO:0046332]; type II activin receptor binding [GO:0070699]; cellular response to nerve growth factor stimulus [GO:1990090]; glomerular visceral epithelial cell development [GO:0072015]; mitotic cell cycle arrest [GO:0071850]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein kinase B signaling [GO:0051898]; nerve growth factor signaling pathway [GO:0038180]; neuroligin clustering involved in postsynaptic membrane assembly [GO:0097118]; planar cell polarity pathway involved in axis elongation [GO:0003402]; positive regulation of neuron projection development [GO:0010976]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of receptor internalization [GO:0002092]; positive regulation of synaptic vesicle clustering [GO:2000809]; protein heterooligomerization [GO:0051291]; receptor clustering [GO:0043113]; SMAD protein signal transduction [GO:0060395]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UL8-1; Sequence=Displayed; Name=2; IsoId=Q86UL8-2; Sequence=VSP_008435; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Late endosome {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Localized diffusely in the cytoplasm before nerve growth factor (NGF) stimulation. Recruted to late endosomes after NGF stimulation. Membrane-associated in synaptosomes (By similarity). {ECO:0000250}.


uniprotID: Q5VYJ5
geneSymbol: MALRD1
name: MAM and LDL-receptor class A domain-containing protein 1
length: 2156
go: ENSG00000204740;
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; cholesterol homeostasis [GO:0042632]; negative regulation of bile acid biosynthetic process [GO:0070858]

snps:
rs16918344 rs4601653 rs2358355 rs7100382 rs7100403 rs1609746 rs10827306 rs12773592 rs12771333 rs10763975 rs16918863 rs12256835 rs7100661 rs16919132 rs10827628 rs16919148 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:A2AJX4}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q9H8J5
geneSymbol: MANSC1
name: MANSC domain-containing protein 1 (Loss of heterozygosity 12 chromosomal region 3 protein)
length: 431
go: ENSG00000111261;
opentargets: integral component of membrane [GO:0016021]
snps: rs3741798 rs34668262 rs17375215 rs3741803
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8J5-1; Sequence=Displayed; Name=2; IsoId=Q9H8J5-2; Sequence=VSP_055927; Note=No experimental confirmation available.; 


uniprotID: A6NHS7
geneSymbol: MANSC4
name: MANSC domain-containing protein 4
length: 340
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: P23368
geneSymbol: ME2
reactome: R-HSA-71403;
pdb: 1DO8;1EFK;1EFL;1GZ3;1GZ4;1PJ2;1PJ3;1PJ4;1PJL;1QR6;
name: NAD-dependent malic enzyme, mitochondrial (NAD-ME) (EC 1.1.1.38) (Malic enzyme 2)
length: 584
go: ENSG00000082212;
drug: DB03589;DB01677;DB03499;DB00157;DB03680;
snps: rs16952692 rs649224
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; malate dehydrogenase (decarboxylating) (NAD+) activity [GO:0004471]; malate dehydrogenase (decarboxylating) (NADP+) activity [GO:0004473]; malic enzyme activity [GO:0004470]; metal ion binding [GO:0046872]; NAD binding [GO:0051287]; oxaloacetate decarboxylase activity [GO:0008948]; malate metabolic process [GO:0006108]; pyruvate metabolic process [GO:0006090]; regulation of NADP metabolic process [GO:1902031]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23368-1; Sequence=Displayed; Name=2; IsoId=P23368-2; Sequence=VSP_042717; Note=No experimental confirmation available.; 


uniprotID: A6NNE9
geneSymbol: MARCH11
length: 402
go: ENSG00000183654;
name:
E3 ubiquitin-protein ligase MARCH11 (EC 2.3.2.27) (Membrane-associated RING finger protein 11) (Membrane-associated RING-CH protein XI) (MARCH-XI) (RING-type E3 ubiquitin transferase MARCH11)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; integral component of membrane [GO:0016021]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NNE9-1; Sequence=Displayed; Name=2; IsoId=A6NNE9-2; Sequence=VSP_034147; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:A6P320}; Multi-pass membrane protein {ECO:0000250|UniProtKB:A6P320}.


uniprotID: P51948
geneSymbol: MNAT1
pdb: 1G25;
length: 309
go: ENSG00000020426;
snps: rs35188899
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167246;R-HSA-427413;R-HSA-5696395;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-69202;R-HSA-69231;R-HSA-69273;R-HSA-69656;R-HSA-72086;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;R-HSA-8939236;

name:
CDK-activating kinase assembly factor MAT1 (CDK7/cyclin-H assembly factor) (Cyclin-G1-interacting protein) (Menage a trois) (RING finger protein 66) (RING finger protein MAT1) (p35) (p36)

sequence:

opentargets:
cyclin-dependent protein kinase activating kinase holoenzyme complex [GO:0019907]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; transcription factor TFIIH holo complex [GO:0005675]; cyclin-dependent protein serine/threonine kinase activator activity [GO:0061575]; protein N-terminus binding [GO:0047485]; zinc ion binding [GO:0008270]; 7-methylguanosine mRNA capping [GO:0006370]; adult heart development [GO:0007512]; cell proliferation [GO:0008283]; DNA repair [GO:0006281]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA helicase activity [GO:1905775]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; protein-containing complex assembly [GO:0065003]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of transcription by RNA polymerase II [GO:0006357]; response to calcium ion [GO:0051592]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51948-1; Sequence=Displayed; Name=2; IsoId=P51948-2; Sequence=VSP_046772; 


uniprotID: Q86UD3
geneSymbol: MARCH3
length: 253
go: ENSG00000173926;
snps: rs34821177
name:
E3 ubiquitin-protein ligase MARCH3 (EC 2.3.2.27) (Membrane-associated RING finger protein 3) (Membrane-associated RING-CH protein III) (MARCH-III) (RING finger protein 173) (RING-type E3 ubiquitin transferase MARCH3)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; endocytosis [GO:0006897]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UD3-1; Sequence=Displayed; Name=2; IsoId=Q86UD3-2; Sequence=VSP_055451, VSP_055452; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:16428329}; Multi-pass membrane protein {ECO:0000269|PubMed:16428329}. Early endosome membrane {ECO:0000269|PubMed:16428329}; Multi-pass membrane protein {ECO:0000269|PubMed:16428329}.


uniprotID: O00339
geneSymbol: MATN2
name: Matrilin-2
length: 956
go: ENSG00000132561;
snps: rs35804177 rs2290472 rs1869609 rs35120814 rs2255317 rs17831160
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; axon guidance [GO:0007411]; dendrite regeneration [GO:0031104]; glial cell migration [GO:0008347]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; neuron migration [GO:0001764]; response to axon injury [GO:0048678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=O00339-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O00339-2; Sequence=VSP_001399; Name=3; IsoId=O00339-3; Sequence=VSP_013284; Note=No experimental confirmation available.; Name=4; IsoId=O00339-4; Sequence=VSP_014540; Note=No experimental confirmation available.; 


uniprotID: P56270
geneSymbol: MAZ
length: 477
go: ENSG00000103495;
name:
Myc-associated zinc finger protein (MAZI) (Pur-1) (Purine-binding transcription factor) (Serum amyloid A-activating factor-1) (SAF-1) (Transcription factor Zif87) (ZF87) (Zinc finger protein 801)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; termination of RNA polymerase II transcription [GO:0006369]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=SAF-1; IsoId=P56270-1; Sequence=Displayed; Name=2; Synonyms=SAF-2; IsoId=P56270-2; Sequence=VSP_044561; Note=May act as a dominant negative of isoform 1. Reduced expression during inflammatory conditions.; Name=3; Synonyms=SAF-3; IsoId=P56270-3; Sequence=VSP_047560; Note=Very low expression in normal tissues, but high expression during inflammation. The transactivation potential of SAF-3 is much greater than that of the predominantly expressed form 1.; Name=4; IsoId=P56270-4; Sequence=VSP_055108; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:10727212}. Note=In brains of Alzheimer disease patients, present in a plaque-like structures.


uniprotID: Q9UIS9
geneSymbol: MBD1
reactome: R-HSA-3899300;
pdb: 1D9N;1IG4;4D4W;5W9Q;6D1T;
length: 605
go: ENSG00000141644;
snps: rs125555
name:
Methyl-CpG-binding domain protein 1 (CXXC-type zinc finger protein 3) (Methyl-CpG-binding protein MBD1) (Protein containing methyl-CpG-binding domain 1)

sequence:

opentargets:
chromosome [GO:0005694]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded methylated DNA binding [GO:0010385]; methyl-CpG binding [GO:0008327]; zinc ion binding [GO:0008270]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=1; Synonyms=MBD1v1; IsoId=Q9UIS9-1; Sequence=Displayed; Name=2; Synonyms=MBD1v2; IsoId=Q9UIS9-2; Sequence=VSP_011065, VSP_011068, VSP_011070; Name=4; Synonyms=MBD1v3; IsoId=Q9UIS9-4; Sequence=VSP_011066, VSP_011068; Name=5; Synonyms=PCM1; IsoId=Q9UIS9-5; Sequence=VSP_011064; Name=6; Synonyms=MBD1v6; IsoId=Q9UIS9-6; Sequence=VSP_011068, VSP_011069, VSP_011071; Name=7; IsoId=Q9UIS9-7; Sequence=VSP_011066; Name=8; IsoId=Q9UIS9-8; Sequence=VSP_011065, VSP_011068; Name=9; IsoId=Q9UIS9-9; Sequence=VSP_042812; Name=10; IsoId=Q9UIS9-10; Sequence=VSP_011064, VSP_054737, VSP_054738; Note=No experimental confirmation available.; Name=11; IsoId=Q9UIS9-11; Sequence=VSP_054736, VSP_011068, VSP_054739; Note=No experimental confirmation available.; Name=12; IsoId=Q9UIS9-12; Sequence=VSP_011070; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus matrix {ECO:0000250}. Nucleus speckle. Chromosome. Note=Colocalizes with the Ten-1 ICD form of TENM1 in foci associated with the nuclear matrix (By similarity). Nuclear, in a punctate pattern. Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes. {ECO:0000250}.


uniprotID: Q9UBB5
geneSymbol: MBD2
reactome: R-HSA-427413;R-HSA-73728;
pdb: 2L2L;6C1A;6C1T;6C1U;6C1V;6C2F;6CNP;6CNQ;
name: Methyl-CpG-binding domain protein 2 (Demethylase) (DMTase) (Methyl-CpG-binding protein MBD2)
length: 411
go: ENSG00000134046;
sequence:

opentargets:
cytosol [GO:0005829]; heterochromatin [GO:0000792]; histone deacetylase complex [GO:0000118]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; C2H2 zinc finger domain binding [GO:0070742]; chromatin binding [GO:0003682]; methyl-CpG binding [GO:0008327]; mRNA binding [GO:0003729]; protein domain specific binding [GO:0019904]; satellite DNA binding [GO:0003696]; siRNA binding [GO:0035197]; aging [GO:0007568]; ATP-dependent chromatin remodeling [GO:0043044]; cellular protein-containing complex assembly [GO:0034622]; cellular response to organic cyclic compound [GO:0071407]; chromatin silencing at rDNA [GO:0000183]; embryonic organ development [GO:0048568]; heart development [GO:0007507]; maternal behavior [GO:0042711]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of chromatin binding [GO:0035563]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of cell proliferation [GO:0042127]; regulation of DNA methylation [GO:0044030]; response to estradiol [GO:0032355]; response to mechanical stimulus [GO:0009612]; response to nutrient levels [GO:0031667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MBD2a, MBD2b; IsoId=Q9UBB5-1; Sequence=Displayed; Name=3; IsoId=Q9UBB5-3; Sequence=VSP_011077, VSP_011078; Note=Incomplete sequence.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12183469, ECO:0000269|PubMed:9774669}. Note=Nuclear, in discrete foci. Detected at replication foci in late S phase.


uniprotID: O95983
geneSymbol: MBD3
reactome: R-HSA-3214815;R-HSA-427389;R-HSA-6804758;R-HSA-73762;R-HSA-8943724;
pdb: 2MB7;6CC8;6CCG;6CEU;6CEV;
name: Methyl-CpG-binding domain protein 3 (Methyl-CpG-binding protein MBD3)
length: 291
go: ENSG00000071655;
sequence:

opentargets:
cytoplasm [GO:0005737]; heterochromatin [GO:0000792]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; histone deacetylase activity [GO:0004407]; methyl-CpG binding [GO:0008327]; aging [GO:0007568]; ATP-dependent chromatin remodeling [GO:0043044]; brain development [GO:0007420]; embryonic organ development [GO:0048568]; heart development [GO:0007507]; histone acetylation [GO:0016573]; in utero embryonic development [GO:0001701]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of DNA methylation [GO:0044030]; response to estradiol [GO:0032355]; response to nutrient levels [GO:0031667]; tissue development [GO:0009888]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95983-1; Sequence=Displayed; Name=2; IsoId=O95983-2; Sequence=VSP_011081; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Nuclear, in discrete foci. Detected on chromatin, at promoter regions of active genes.


uniprotID: O95243
geneSymbol: MBD4
reactome: R-HSA-110328;R-HSA-110329;R-HSA-110357;
pdb: 2MOE;3IHO;4DK9;4E9E;4E9F;4E9G;4E9H;4EA4;4EA5;4LG7;4OFA;4OFE;4OFH;5CHZ;
length: 580
go: ENSG00000129071;
snps: rs2307296 rs10342 rs10342 rs2307289 rs140693 rs2307298 rs2307293
location: SUBCELLULAR LOCATION: Nucleus.
name:
Methyl-CpG-binding domain protein 4 (EC 3.2.2.-) (Methyl-CpG-binding endonuclease 1) (Methyl-CpG-binding protein MBD4) (Mismatch-specific DNA N-glycosylase)

sequence:

opentargets:
chromatin [GO:0000785]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA N-glycosylase activity [GO:0019104]; endodeoxyribonuclease activity [GO:0004520]; pyrimidine-specific mismatch base pair DNA N-glycosylase activity [GO:0008263]; satellite DNA binding [GO:0003696]; depyrimidination [GO:0045008]; DNA repair [GO:0006281]; response to estradiol [GO:0032355]; response to radiation [GO:0009314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O95243-1; Sequence=Displayed; Name=2; IsoId=O95243-2; Sequence=VSP_010816; Name=3; IsoId=O95243-3; Sequence=VSP_010817, VSP_010818; Note=No experimental confirmation available.; Name=5; IsoId=O95243-5; Sequence=VSP_054846; Note=No experimental confirmation available.; Name=4; IsoId=O95243-6; Sequence=VSP_054845; Note=Possesses uracil DNA glycosylase but not thymine DNA glycosylase activity.; 


uniprotID: Q9P267
geneSymbol: MBD5
reactome: R-HSA-5689603;
name: Methyl-CpG-binding domain protein 5 (Methyl-CpG-binding protein MBD5)
length: 1494
go: ENSG00000204406;
snps: rs139964770 rs139953766 rs576930680 rs114314967 rs769330358 rs145475623
sequence:

opentargets:
chromocenter [GO:0010369]; extracellular exosome [GO:0070062]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; glucose homeostasis [GO:0042593]; nervous system development [GO:0007399]; positive regulation of growth hormone receptor signaling pathway [GO:0060399]; protein deubiquitination [GO:0016579]; regulation of behavior [GO:0050795]; regulation of multicellular organism growth [GO:0040014]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P267-1; Sequence=Displayed; Name=2; IsoId=Q9P267-2; Sequence=VSP_011083, VSP_011084; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Chromosome. Note=Associated with pericentric heterochromatin.; SUBCELLULAR LOCATION: Isoform 2: Nucleus. Note=Not associated with pericentric heterochromatin.


uniprotID: Q68D91
geneSymbol: MBLAC2
name: Metallo-beta-lactamase domain-containing protein 2 (EC 3.-.-.-)
length: 279
go: ENSG00000176055;
opentargets: extracellular exosome [GO:0070062]; hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]
snps: rs2162986
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68D91-1; Sequence=Displayed; Name=2; IsoId=Q68D91-2; Sequence=VSP_032490; Note=No experimental confirmation available.; 


uniprotID: Q9H7P6
geneSymbol: MVB12B
reactome: R-HSA-162588;R-HSA-174490;R-HSA-917729;
pdb: 3TOW;
name: Multivesicular body subunit 12B (ESCRT-I complex subunit MVB12B) (Protein FAM125B)
length: 319
go: ENSG00000196814;
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endosome membrane [GO:0010008]; ESCRT I complex [GO:0000813]; extracellular exosome [GO:0070062]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; lipid binding [GO:0008289]; endosomal transport [GO:0016197]; positive regulation of viral process [GO:0048524]; protein transport [GO:0015031]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]; viral life cycle [GO:0019058]; virus maturation [GO:0019075]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7P6-1; Sequence=Displayed; Name=2; IsoId=Q9H7P6-2; Sequence=VSP_020364; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome {ECO:0000305}. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.


uniprotID: Q9NUK0
geneSymbol: MBNL3
length: 354
go: ENSG00000076770;
name:
Muscleblind-like protein 3 (Cys3His CCG1-required protein) (Muscleblind-like X-linked protein) (Protein HCHCR)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; multicellular organism development [GO:0007275]; negative regulation of myoblast differentiation [GO:0045662]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=HCHCR-G, G; IsoId=Q9NUK0-1; Sequence=Displayed; Name=2; Synonyms=HCHCR-R, R; IsoId=Q9NUK0-2; Sequence=VSP_006433, VSP_006434; Name=3; IsoId=Q9NUK0-3; Sequence=VSP_006431, VSP_006432; Name=4; IsoId=Q9NUK0-4; Sequence=VSP_006431, VSP_006432, VSP_015935; Name=5; IsoId=Q9NUK0-5; Sequence=VSP_044309; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:11929853}. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.


uniprotID: Q9Y586
geneSymbol: MAB21L2
name: Protein mab-21-like 2
length: 359
go: ENSG00000181541;
snps: rs587777513 rs587777512 rs587777511 rs587777514
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; camera-type eye development [GO:0043010]; embryonic body morphogenesis [GO:0010172]; eye development [GO:0001654]; nervous system development [GO:0007399]; positive regulation of cell proliferation [GO:0008284]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25719200}. Cytoplasm {ECO:0000269|PubMed:25719200}. Note=Predominantly localizes to the nucleus, with some cytoplasmic localization (PubMed:25719200). {ECO:0000269|PubMed:25719200}.


uniprotID: Q8NHZ7
geneSymbol: MBD3L2
name: Methyl-CpG-binding domain protein 3-like 2 (MBD3-like protein 2)
length: 208
go: ENSG00000230522;
sequence:

opentargets:
nucleus [GO:0005634]; methyl-CpG binding [GO:0008327]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: A6NE82
geneSymbol: MBD3L3
name: Putative methyl-CpG-binding domain protein 3-like 3 (MBD3-like protein 3)
length: 208
go: ENSG00000182315;
sequence:

opentargets:
nucleus [GO:0005634]; methyl-CpG binding [GO:0008327]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: Q14703
geneSymbol: MBTPS1
reactome: R-HSA-1655829;R-HSA-381033;R-HSA-381426;R-HSA-8874211;R-HSA-8957275;R-HSA-8963889;
length: 1052
go: ENSG00000140943;
snps: rs34701895 rs34076105
name:
Membrane-bound transcription factor site-1 protease (EC 3.4.21.112) (Endopeptidase S1P) (Subtilisin/kexin-isozyme 1) (SKI-1)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; ATF6-mediated unfolded protein response [GO:0036500]; cellular protein metabolic process [GO:0044267]; cholesterol metabolic process [GO:0008203]; endoplasmic reticulum unfolded protein response [GO:0030968]; lysosome organization [GO:0007040]; membrane protein intracellular domain proteolysis [GO:0031293]; post-translational protein modification [GO:0043687]; protein import into nucleus [GO:0006606]; proteolysis [GO:0006508]; regulation of cholesterol biosynthetic process [GO:0045540]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9990022}; Single-pass type I membrane protein {ECO:0000269|PubMed:9990022}. Golgi apparatus membrane {ECO:0000269|PubMed:9990022}; Single-pass type I membrane protein {ECO:0000269|PubMed:9990022}. Note=May sort to other organelles, including lysosomal and/or endosomal compartments.


uniprotID: O43324
geneSymbol: EEF1E1
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 2UZ8;4BL7;4BVX;4BVY;5BMU;5Y6L;
length: 174
go: ENSG00000124802;
name:
Eukaryotic translation elongation factor 1 epsilon-1 (Aminoacyl tRNA synthetase complex-interacting multifunctional protein 3) (Elongation factor p18) (Multisynthase complex auxiliary component p18)

sequence:
MAAAAELSLLEKSLGLSKGNKYSAQGERQIPVLQTNNGPSLTGLTTIAAHLVKQANKEYLLGSTAEEKAIVQQWLEYRVTQVDGHSSKNDIHTLLKDLNSYLEDKVYLTGYNFTLADILLYYGLHRFIVDLTVQEKEKYLNVSRWFCHIQHYPGIRQHLSSVVFIKNRLYTNSH

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; negative regulation of cell proliferation [GO:0008285]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cellular senescence [GO:2000774]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43324-1; Sequence=Displayed; Name=2; IsoId=O43324-2; Sequence=VSP_045088; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15680327}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Nucleus {ECO:0000269|PubMed:15680327}. Note=Cytoplasmic under growth arrest conditions. Translocated into the nucleus when growth resumes (S phase) and following DNA damage.


uniprotID: O43462
geneSymbol: MBTPS2
reactome: R-HSA-1655829;R-HSA-381033;R-HSA-8874211;R-HSA-8963889;
length: 519
go: ENSG00000012174;
snps: rs122468177 rs122468180 rs122468176 rs122468178 rs587777306 rs122468179 rs587776867
name:
Membrane-bound transcription factor site-2 protease (EC 3.4.24.85) (Endopeptidase S2P) (Sterol regulatory element-binding proteins intramembrane protease) (SREBPs intramembrane protease)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; ATF6-mediated unfolded protein response [GO:0036500]; cholesterol metabolic process [GO:0008203]; endoplasmic reticulum unfolded protein response [GO:0030968]; membrane protein intracellular domain proteolysis [GO:0031293]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; regulation of cholesterol biosynthetic process [GO:0045540]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:19361614}; Multi-pass membrane protein {ECO:0000305|PubMed:19361614}. Cytoplasm {ECO:0000269|PubMed:19361614}.


uniprotID: P59942
geneSymbol: MCCD1
name: Mitochondrial coiled-coil domain protein 1
length: 119
go: ENSG00000204511;
opentargets: mitochondrion [GO:0005739]
snps: rs2259435 rs3093983 rs78957773
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:14527716}.
sequence:
MVLPLPWLSRYHFLRLLLPSWSLAPQGSHGCCSQNPKASMEEQTSSRGNGKMTSPPRGPGTHRTAELARAEELLEQQLELYQALLEGQEGAWEAQALVLKIQKLKEQMRRHQESLGGGA


uniprotID: Q96RQ3
geneSymbol: MCCC1
reactome: R-HSA-196780;R-HSA-3371599;R-HSA-70895;
pdb: 2EJM;
length: 725
go: ENSG00000078070;
drug: DB00121;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:16023992}.
name:
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCase subunit alpha) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 1) (3-methylcrotonyl-CoA carboxylase biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha)

sequence:

opentargets:
3-methylcrotonyl-CoA carboxylase complex, mitochondrial [GO:0002169]; cytosol [GO:0005829]; methylcrotonoyl-CoA carboxylase complex [GO:1905202]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; biotin binding [GO:0009374]; biotin carboxylase activity [GO:0004075]; metal ion binding [GO:0046872]; methylcrotonoyl-CoA carboxylase activity [GO:0004485]; biotin metabolic process [GO:0006768]; leucine catabolic process [GO:0006552]; protein heterooligomerization [GO:0051291]

snps:
rs199517715 rs1057520695 rs202197951 rs757362635 rs186209189 rs727504004 rs773433541 rs754437245 rs746500530 rs1326114075 rs201041864 rs119103212 rs201386261 rs755328329 rs887877405 rs794727036 rs1333357031 rs119103213 rs376289130 rs119103215 rs398124352 rs768785753 rs119103218 rs2270968 rs119103214 rs119103216 rs35219417 rs142867987 


uniprotID: O43772
geneSymbol: SLC25A20
reactome: R-HSA-200425;
length: 301
go: ENSG00000178537;
drug: DB00583;
snps: rs748394731 rs577331691 rs28934589
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
Mitochondrial carnitine/acylcarnitine carrier protein (Carnitine/acylcarnitine translocase) (CAC) (Solute carrier family 25 member 20)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; acyl carnitine transmembrane transporter activity [GO:0015227]; carnitine shuttle [GO:0006853]


uniprotID: O43148
geneSymbol: RNMT
reactome: R-HSA-167160;R-HSA-72086;R-HSA-77075;
pdb: 3BGV;3EPP;5E8J;5E9J;5E9W;
length: 476
go: ENSG00000101654;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11114884, ECO:0000269|PubMed:15767670}.
name:
mRNA cap guanine-N7 methyltransferase (EC 2.1.1.56) (RG7MT1) (mRNA (guanine-N(7)-)-methyltransferase) (mRNA cap methyltransferase) (hCMT1) (hMet) (hcm1p)

sequence:

opentargets:
fibrillar center [GO:0001650]; mRNA cap binding complex [GO:0005845]; mRNA cap methyltransferase complex [GO:0031533]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; receptor complex [GO:0043235]; mRNA (guanine-N7-)-methyltransferase activity [GO:0004482]; RNA binding [GO:0003723]; 7-methylguanosine mRNA capping [GO:0006370]; cellular response to leukemia inhibitory factor [GO:1990830]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=hCMT1a; IsoId=O43148-1; Sequence=Displayed; Name=2; Synonyms=hCMT1b; IsoId=O43148-2; Sequence=VSP_020241; 


uniprotID: Q16048
geneSymbol: PMCHL1
sequence: MLSQKPKKKHNFLNHGLSLNLVIKPYLALEGSVAFPAENGVQDTESTQEKRETGDEENSAKFPVGRRDFDTLSCMLGRVYQSCWQV
length: 86
name:
Putative pro-MCH-like protein 1 (Pro-MCH variant) (Pro-melanin-concentrating hormone-like protein 1)

opentargets:
extracellular region [GO:0005576]; melanin-concentrating hormone activity [GO:0030354]; chemical synaptic transmission [GO:0007268]


uniprotID: Q969V1
geneSymbol: MCHR2
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
length: 340
go: ENSG00000152034;
snps: rs147988902 rs62434070
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Melanin-concentrating hormone receptor 2 (MCH receptor 2) (MCH-R2) (MCHR-2) (G-protein coupled receptor 145) (GPRv17) (MCH-2R) (MCH2) (MCH2R)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q9BYR6
geneSymbol: KRTAP3-3
reactome: R-HSA-6805567;
sequence: MDCCASRGCSVPTGPATTICSSDKSCRCGVCLPSTCPHTVWLLEPTCCDNCPPPCHIPQPCVPTCFLLNSCQPTPGLETLNLTTFTQPCCEPCLPRGC
length: 98
go: ENSG00000212899;
name:
Keratin-associated protein 3-3 (High sulfur keratin-associated protein 3.3) (Keratin-associated protein 3.3)

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; keratinization [GO:0031424]


uniprotID: O94806
geneSymbol: PRKD3
reactome: R-HSA-1660661;
pdb: 2D9Z;
length: 890
go: ENSG00000115825;
snps: rs11896614 rs17852819 rs34280934 rs55912911 rs17856887
name:
Serine/threonine-protein kinase D3 (EC 2.7.11.13) (Protein kinase C nu type) (Protein kinase EPK2) (nPKC-nu)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; protein kinase D signaling [GO:0089700]; protein phosphorylation [GO:0006468]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94806-1; Sequence=Displayed; Name=2; IsoId=O94806-2; Sequence=VSP_029405, VSP_029406; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18076381}. Membrane {ECO:0000269|PubMed:18076381}. Note=Translocation to the cell membrane is required for kinase activation.


uniprotID: Q8N112
geneSymbol: LSMEM2
name: Leucine-rich single-pass membrane protein 2
length: 164
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MPSLAPDCPLLAMPEETQEDSVAPMMPSQRSRGPLAPNHVHEVCLHQVESISDLHSGAGTLRPYLTEEARPWDELLGVLPPSLCAQAGCSPVYRRGGFLLLLALLVLTCLVLALLAVYLSVLQSESLRILAHTLRTQEETLLKLRLASLSQLRRLNSSEAQAPS


uniprotID: Q86X29
geneSymbol: LSR
reactome: R-HSA-8964038;R-HSA-8964046;
name: Lipolysis-stimulated lipoprotein receptor
length: 649
go: ENSG00000105699;
snps: rs34259399
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
chylomicron [GO:0042627]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; low-density lipoprotein particle [GO:0034362]; plasma membrane [GO:0005886]; tricellular tight junction [GO:0061689]; very-low-density lipoprotein particle [GO:0034361]; establishment of blood-brain barrier [GO:0060856]; liver development [GO:0001889]; regulation of lipid metabolic process [GO:0019216]; tricellular tight junction assembly [GO:1904274]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q86X29-1; Sequence=Displayed; Name=2; IsoId=Q86X29-2; Sequence=VSP_019691, VSP_019693; Name=3; IsoId=Q86X29-3; Sequence=VSP_019692, VSP_019694; Name=4; IsoId=Q86X29-4; Sequence=VSP_019692; Name=5; IsoId=Q86X29-5; Sequence=VSP_046797; Note=No experimental confirmation available.; Name=6; IsoId=Q86X29-6; Sequence=VSP_057210, VSP_057211; Note=No experimental confirmation available.; 


uniprotID: O00453
geneSymbol: LST1
name: Leukocyte-specific transcript 1 protein (Protein B144)
sequence: MLSRNDDICIYGGLGLGGLLLLAVVLLSACLCWLHRRVKRLERSWAQGSSEQELHYASLQRLPVPSSEGPDLRGRDKRGTKEDPRADYACIAENKPT
length: 97
go: ENSG00000204482;
opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; anatomical structure morphogenesis [GO:0009653]; cell morphogenesis [GO:0000902]; dendrite development [GO:0016358]; immune response [GO:0006955]; negative regulation of lymphocyte proliferation [GO:0050672]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Comment=Additional isoforms seem to exist. {ECO:0000269|PubMed:10706707}; Name=1 {ECO:0000269|PubMed:9367684}; Synonyms=LST1/A {ECO:0000269|PubMed:9367684}; IsoId=O00453-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9367684}; Synonyms=LST1/C {ECO:0000269|PubMed:9367684}; IsoId=O00453-2; Sequence=VSP_050578; Name=3 {ECO:0000269|PubMed:7590964}; Synonyms=pLst1 {ECO:0000269|PubMed:7590964}; IsoId=O00453-3; Sequence=VSP_050579; Name=4 {ECO:0000269|PubMed:9367684}; Synonyms=LST1/E {ECO:0000269|PubMed:9367684}; IsoId=O00453-4; Sequence=VSP_050577; Name=5 {ECO:0000269|PubMed:10706707}; Synonyms=LST1/K {ECO:0000269|PubMed:10706707}; IsoId=O00453-5; Sequence=VSP_050584; Name=6 {ECO:0000269|PubMed:10706707}; Synonyms=LST1/L {ECO:0000269|PubMed:10706707}; IsoId=O00453-6; Sequence=VSP_050583, VSP_050587; Name=7 {ECO:0000269|PubMed:10706707}; Synonyms=LST1/J {ECO:0000269|PubMed:10706707}; IsoId=O00453-7; Sequence=VSP_050583, VSP_050586; Name=8 {ECO:0000269|PubMed:10706707}; Synonyms=LST1/M {ECO:0000269|PubMed:10706707}; IsoId=O00453-8; Sequence=VSP_050580; Name=9 {ECO:0000269|PubMed:10706707}; Synonyms=LST1/N {ECO:0000269|PubMed:10706707}; IsoId=O00453-9; Sequence=VSP_050581, VSP_050582; Name=10; IsoId=O00453-10; Sequence=VSP_050583; Name=11; Synonyms=LST1/P; IsoId=O00453-11; Sequence=VSP_046459; Name=12; IsoId=O00453-12; Sequence=VSP_047367; Note=No experimental confirmation available.; Name=13; IsoId=O00453-13; Sequence=VSP_050583, VSP_046459; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Endomembrane system; Single-pass membrane protein. Note=Also detected in a perinuclear region corresponding to the localization of the Golgi apparatus and throughout the cytoplasm.


uniprotID: Q14767
geneSymbol: LTBP2
reactome: R-HSA-2129379;
name: Latent-transforming growth factor beta-binding protein 2 (LTBP-2)
length: 1821
go: ENSG00000119681;
snps: rs934996 rs2304707 rs2196862 rs137854856
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; growth factor binding [GO:0019838]; heparin binding [GO:0008201]; protein secretion [GO:0009306]; protein targeting [GO:0006605]; supramolecular fiber organization [GO:0097435]; transforming growth factor beta receptor signaling pathway [GO:0007179]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:7798248}.


uniprotID: Q15722
geneSymbol: LTB4R
reactome: R-HSA-391906;R-HSA-416476;
length: 352
go: ENSG00000213903;
snps: rs17849864
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Leukotriene B4 receptor 1 (LTB4-R 1) (LTB4-R1) (Chemoattractant receptor-like 1) (G-protein coupled receptor 16) (P2Y purinoceptor 7) (P2Y7)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; leukotriene B4 receptor activity [GO:0001632]; leukotriene receptor activity [GO:0004974]; nucleotide binding [GO:0000166]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; muscle contraction [GO:0006936]; neuropeptide signaling pathway [GO:0007218]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]


uniprotID: Q9NPC1
geneSymbol: LTB4R2
reactome: R-HSA-391906;R-HSA-416476;
length: 389
go: ENSG00000213906;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Leukotriene B4 receptor 2 (LTB4-R 2) (LTB4-R2) (LTB4 receptor JULF2) (Leukotriene B4 receptor BLT2) (Seven transmembrane receptor BLTR2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; leukotriene B4 receptor activity [GO:0001632]; leukotriene receptor activity [GO:0004974]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; keratinocyte migration [GO:0051546]; negative regulation of adenylate cyclase activity [GO:0007194]; neuropeptide signaling pathway [GO:0007218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPC1-1; Sequence=Displayed; Name=2; IsoId=Q9NPC1-2; Sequence=VSP_044885; Note=No experimental confirmation available.; 


uniprotID: Q8WV07
geneSymbol: LTO1
length: 137
go: ENSG00000149716;
snps: rs56107468
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P53846}.
name:
Protein LTO1 homolog (Oral cancer-overexpressed protein 1) (Tumor-amplified and overexpressed sequence 1)

sequence:
MAGSQDIFDAIVMADERFHGEGYREGYEEGSSLGVMEGRQHGTLHGAKIGSEIGCYQGFAFAWKCLLHSCTTEKDSRKMKVLESLIGMIQKFPYDDPTYDKLHEDLDKIRGKFKQFCSLLNVQPDFKISAEGSGLSF

opentargets:
checkpoint clamp complex [GO:0030896]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; double-strand break repair via homologous recombination [GO:0000724]; intra-S DNA damage checkpoint [GO:0031573]; meiotic DNA integrity checkpoint [GO:0044778]; mitotic DNA replication checkpoint [GO:0033314]; nucleotide-excision repair [GO:0006289]; protein maturation by [4Fe-4S] cluster transfer [GO:0106035]; ribosomal large subunit biogenesis [GO:0042273]; translational initiation [GO:0006413]


uniprotID: Q9Y2Q5
geneSymbol: LAMTOR2
pdb: 5X6U;5X6V;5Y39;5Y3A;6B9X;6EHP;6EHR;
length: 125
go: ENSG00000116586;
reactome:
R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-5674135;R-HSA-6798695;R-HSA-8943724;

name:
Ragulator complex protein LAMTOR2 (Endosomal adaptor protein p14) (Late endosomal/lysosomal Mp1-interacting protein) (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2) (Mitogen-activated protein-binding protein-interacting protein) (MAPBP-interacting protein) (Roadblock domain-containing protein 3)

sequence:
MLRPKALTQVLSQANTGGVQSTLLLNNEGSLLAYSGYGDTDARVTAAIASNIWAAYDRNGNQAFNEDNLKFILMDCMEGRVAITRVANLLLCMYAKETVGFGMLKAKAQALVQYLEEPLTQVAAS

opentargets:
endosome membrane [GO:0010008]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; Ragulator complex [GO:0071986]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein-containing complex scaffold activity [GO:0032947]; activation of MAPKK activity [GO:0000186]; cell cycle arrest [GO:0007050]; cellular protein localization [GO:0034613]; cellular response to amino acid stimulus [GO:0071230]; MAPK cascade [GO:0000165]; neutrophil degranulation [GO:0043312]; positive regulation of TOR signaling [GO:0032008]; regulation of cell growth [GO:0001558]; regulation of macroautophagy [GO:0016241]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2Q5-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Q5-2; Sequence=VSP_036543; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2Q5-3; Sequence=VSP_040980; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Lysosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: O94822
geneSymbol: LTN1
reactome: R-HSA-983168;
pdb: 3J92;
length: 1766
go: ENSG00000198862;
snps: rs2254796 rs16983580 rs34191159 rs34635840
name:
E3 ubiquitin-protein ligase listerin (EC 2.3.2.27) (RING finger protein 160) (RING-type E3 ubiquitin transferase listerin) (Zinc finger protein 294)

sequence:

opentargets:
cytosol [GO:0005829]; RQC complex [GO:1990112]; ribosomal large subunit binding [GO:0043023]; ubiquitin protein ligase activity [GO:0061630]; zinc ion binding [GO:0008270]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; rescue of stalled ribosome [GO:0072344]; ribosome-associated ubiquitin-dependent protein catabolic process [GO:1990116]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O94822-1; Sequence=Displayed; Name=2; IsoId=O94822-2; Sequence=VSP_040138; Name=3; IsoId=O94822-3; Sequence=VSP_044911; Note=No experimental confirmation available.; 


uniprotID: Q9UHA4
geneSymbol: LAMTOR3
pdb: 1SKO;2ZL1;3CPT;5X6U;5X6V;5Y39;5Y3A;6B9X;6EHP;6EHR;
length: 124
go: ENSG00000109270;
reactome:
R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-5674135;R-HSA-6798695;R-HSA-8943724;

name:
Ragulator complex protein LAMTOR3 (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 3) (MEK-binding partner 1) (Mp1) (Mitogen-activated protein kinase kinase 1-interacting protein 1) (Mitogen-activated protein kinase scaffold protein 1)

sequence:
MADDLKRFLYKKLPSVEGLHAIVVSDRDGVPVIKVANDNAPEHALRPGFLSTFALATDQGSKLGLSKNKSIICYYNTYQVVQFNRLPLVVSFIASSSANTGLIVSLEKELAPLFEELRQVVEVS

opentargets:
endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; Ragulator complex [GO:0071986]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; kinase activator activity [GO:0019209]; activation of MAPKK activity [GO:0000186]; cell cycle arrest [GO:0007050]; cellular protein localization [GO:0034613]; cellular response to amino acid stimulus [GO:0071230]; MAPK cascade [GO:0000165]; neutrophil degranulation [GO:0043312]; positive regulation of TOR signaling [GO:0032008]; regulation of macroautophagy [GO:0016241]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHA4-1; Sequence=Displayed; Name=2; IsoId=Q9UHA4-2; Sequence=VSP_046372; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: Q0VGL1
geneSymbol: LAMTOR4
reactome: R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-8943724;
pdb: 5VOK;5X6U;5X6V;5Y38;5Y39;5Y3A;6B9X;6EHP;6EHR;
sequence: MTSALTQGLERIPDQLGYLVLSEGAVLASSGDLENDEQAASAISELVSTACGFRLHRGMNVPFKRLSVVFGEHTLLVTVSGQRVFVVKRQNRGREPIDV
length: 99
go: ENSG00000188186;
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:22980980}.
name:
Ragulator complex protein LAMTOR4 (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 4) [Cleaved into: Ragulator complex protein LAMTOR4, N-terminally processed]

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; Ragulator complex [GO:0071986]; cell cycle arrest [GO:0007050]; cellular response to amino acid stimulus [GO:0071230]; positive regulation of TOR signaling [GO:0032008]; protein localization to lysosome [GO:0061462]; regulation of cell size [GO:0008361]; regulation of macroautophagy [GO:0016241]


uniprotID: O43504
geneSymbol: LAMTOR5
reactome: R-HSA-1632852;R-HSA-165159;R-HSA-166208;R-HSA-380972;R-HSA-5628897;R-HSA-8943724;
pdb: 3MS6;3MSH;5VOK;5X6U;5X6V;5Y38;5Y39;5Y3A;6EHP;6EHR;
sequence: MEATLEQHLEDTMKNPSIVGVLCTDSQGLNLGCRGTLSDEHAGVISVLAQQAAKLTSDPTDIPVVCLESDNGNIMIQKHDGITVAVHKMAS
length: 91
go: ENSG00000134248;
location: SUBCELLULAR LOCATION: Cytoplasm. Lysosome.
name:
Ragulator complex protein LAMTOR5 (Hepatitis B virus X-interacting protein) (HBV X-interacting protein) (HBX-interacting protein) (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 5)

opentargets:
cytosol [GO:0005829]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; Ragulator complex [GO:0071986]; cell cycle arrest [GO:0007050]; cellular response to amino acid stimulus [GO:0071230]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; positive regulation of TOR signaling [GO:0032008]; protein localization to lysosome [GO:0061462]; regulation of cell size [GO:0008361]; regulation of macroautophagy [GO:0016241]; response to virus [GO:0009615]; viral genome replication [GO:0019079]


uniprotID: P51884
geneSymbol: LUM
reactome: R-HSA-2022854;R-HSA-2022857;R-HSA-216083;R-HSA-3000178;R-HSA-3656225;R-HSA-3656243;R-HSA-3656244;
name: Lumican (Keratan sulfate proteoglycan lumican) (KSPG lumican)
length: 338
go: ENSG00000139329;
snps: rs147975710
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibrillar collagen trimer [GO:0005583]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; cartilage development [GO:0051216]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; keratan sulfate biosynthetic process [GO:0018146]; keratan sulfate catabolic process [GO:0042340]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transforming growth factor beta1 production [GO:0032914]; response to growth factor [GO:0070848]; response to organic cyclic compound [GO:0014070]; visual perception [GO:0007601]


uniprotID: Q9NQ29
geneSymbol: LUC7L
name: Putative RNA-binding protein Luc7-like 1 (Putative SR protein LUC7B1) (SR+89)
length: 371
go: ENSG00000007392;
sequence:

opentargets:
U1 snRNP [GO:0005685]; U2-type prespliceosome [GO:0071004]; identical protein binding [GO:0042802]; mRNA binding [GO:0003729]; RS domain binding [GO:0050733]; mRNA splice site selection [GO:0006376]; negative regulation of striated muscle tissue development [GO:0045843]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQ29-1; Sequence=Displayed; Name=2; IsoId=Q9NQ29-2; Sequence=VSP_010215; Note=May be due to an intron retention.; Name=3; IsoId=Q9NQ29-3; Sequence=VSP_010214; Note=No experimental confirmation available.; 


uniprotID: A0A075B6K4
geneSymbol: IGLV3-10
name: Immunoglobulin lambda variable 3-10
length: 115
go: ENSG00000211669;
sequence:
MAWTPLLLPLLTFCTVSEASYELTQPPSVSVSPGQTARITCSGDALPKKYAYWYQQKSGQAPVLVIYEDSKRPSGIPERFSGSSSGTMATLTISGAQVEDEADYYCYSTDSSGNH

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; adaptive immune response [GO:0002250]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. Cell membrane {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.


uniprotID: A0A075B6K0
geneSymbol: IGLV3-16
name: Immunoglobulin lambda variable 3-16
length: 115
sequence:
MAWIPLLLPLLTLCTGSEASYELTQPPSVSVSLGQMARITCSGEALPKKYAYWYQQKPGQFPVLVIYKDSERPSGIPERFSGSSSGTIVTLTISGVQAEDEADYYCLSADSSGTY

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; adaptive immune response [GO:0002250]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. Cell membrane {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.


uniprotID: P80748
geneSymbol: IGLV3-21
pdb: 2LOI;
length: 117
go: ENSG00000211662;
reactome:
R-HSA-166663;R-HSA-173623;R-HSA-198933;R-HSA-202733;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-2168880;R-HSA-2454202;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-2871837;R-HSA-5690714;R-HSA-977606;R-HSA-983695;

name:
Immunoglobulin lambda variable 3-21 (Ig lambda chain V-III region LOI) (Ig lambda chain V-V region DEL) (Ig lambda chain V-VII region MOT)

sequence:
MAWTVLLLGLLSHCTGSVTSYVLTQPPSVSVAPGQTARITCGGNNIGSKSVHWYQQKPGQAPVLVVYDDSDRPSGIPERFSGSNSGNTATLTISRVEAGDEADYYCQVWDSSSDHPT

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. Cell membrane {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.


uniprotID: A0A075B6J6
geneSymbol: IGLV3-22
name: Immunoglobulin lambda variable 3-22
length: 115
sequence:
MAWATLLLPLLNLYTGSVASYELTQLPSVSVSPGQTARITCSGDVLGENYADWYQQKPGQAPELVIYEDSERYPGIPERFSGSTSGNTTTLTISRVLTEDEADYYCLSGDEDNPS

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; adaptive immune response [GO:0002250]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]


uniprotID: P01699
geneSymbol: IGLV1-44
length: 117
go: ENSG00000211651;
reactome:
R-HSA-166663;R-HSA-173623;R-HSA-198933;R-HSA-202733;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-2168880;R-HSA-2454202;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-2871837;R-HSA-5690714;R-HSA-977606;R-HSA-983695;

name:
Immunoglobulin lambda variable 1-44 (Ig lambda chain V-I region MEM) (Ig lambda chain V-I region VOR)

sequence:
MASFPLLLTLLTHCAGSWAQSVLTQPPSASGTPGQRVTISCSGSSSNIGSNTVNWYQQLPGTAPKLLIYSNNQRPSGVPDRFSGSKSGTSASLAISGLQSEDEADYYCAAWDDSLNG

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: P01718
geneSymbol: IGLV3-27
name: Immunoglobulin lambda variable 3-27 (Ig lambda chain V-IV region Kern)
length: 113
go: ENSG00000211658;
reactome:
R-HSA-166663;R-HSA-173623;R-HSA-198933;R-HSA-202733;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-2168880;R-HSA-2454202;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-2871837;R-HSA-5690714;R-HSA-977606;R-HSA-983695;

sequence:
MAWIPLLLPLLILCTVSVASYELTQPSSVSVSPGQTARITCSGDVLAKKYARWFQQKPGQAPVLVIYKDSERPSGIPERFSGSSSGTTVTLTISGAQVEDEADYYCYSAADNN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: P01701
geneSymbol: IGLV1-51
length: 117
go: ENSG00000211644;
name:
Immunoglobulin lambda variable 1-51 (Ig lambda chain V-I region BL2) (Ig lambda chain V-I region EPS) (Ig lambda chain V-I region NEW) (Ig lambda chain V-I region NIG-64)

sequence:
MTCSPLLLTLLIHCTGSWAQSVLTQPPSVSAAPGQKVTISCSGSSSNIGNNYVSWYQQLPGTAPKLLIYDNNKRPSGIPDRFSGSKSGTSATLGITGLQTGDEADYYCGTWDSSLSA

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: A0A0A0MRZ9
geneSymbol: IGLV5-52
name: Immunoglobulin lambda variable 5-52
length: 124
sequence:
MAWTLLLLVLLSHCTGSLSQPVLTQPSSHSASSGASVRLTCMLSSGFSVGDFWIRWYQQKPGNPPRYLLYYHSDSNKGQGSGVPSRFSGSNDASANAGILRISGLQPEDEADYYCGTWHSNSKT


uniprotID: P01709
geneSymbol: IGLV2-8
pdb: 1A8J;1DCL;1MCW;2MCG;3MCG;4UNT;4UNU;4UNV;5ACL;5ACM;
length: 118
go: ENSG00000278196;
drug: DB03088;
name:
Immunoglobulin lambda variable 2-8 (Ig lambda chain V-II region BO) (Ig lambda chain V-II region MGC)

sequence:
MAWALLLLTLLTQGTGSWAQSALTQPPSASGSPGQSVTISCTGTSSDVGGYNYVSWYQQHPGKAPKLMIYEVSKRPSGVPDRFSGSKSGNTASLTVSGLQAEDEADYYCSSYAGSNNF

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: O95868
geneSymbol: LY6G6D
reactome: R-HSA-163125;
length: 133
go: ENSG00000244355;
snps: rs3749952 rs9267550
name:
Lymphocyte antigen 6 complex locus protein G6d (Protein Ly6-D) (Megakaryocyte-enhanced gene transcript 1 protein)

sequence:
MKPQFVGILLSSLLGAALGNRMRCYNCGGSPSSSCKEAVTTCGEGRPQPGLEQIKLPGNPPVTLIHQHPACVAAHHCNQVETESVGDVTYPAHRDCYLGDLCNSAVASHVAPAGILAAAATALTCLLPGLWSG

opentargets:
anchored component of membrane [GO:0031225]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; filopodium [GO:0030175]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; acetylcholine receptor inhibitor activity [GO:0030550]; identical protein binding [GO:0042802]; acetylcholine receptor signaling pathway [GO:0095500]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17008713}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:17008713}. Cell projection, filopodium {ECO:0000269|PubMed:17008713}.


uniprotID: O60449
geneSymbol: LY75
length: 1722
go: ENSG00000054219;ENSG00000248672;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
name:
Lymphocyte antigen 75 (Ly-75) (C-type lectin domain family 13 member B) (DEC-205) (gp200-MR6) (CD antigen CD205)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; carbohydrate binding [GO:0030246]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; endocytosis [GO:0006897]; immune response [GO:0006955]; inflammatory response [GO:0006954]

snps:
rs35284483 rs2271381 rs2729709 rs34020639 rs1397706 rs3951216 rs3815875 rs2303549 rs12692566 rs17827158 rs2059696 rs35941588 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=4; IsoId=O60449-1; Sequence=Displayed; Name=2; Synonyms=Fusion protein variant V34-2; IsoId=O60449-2; Sequence=VSP_020909; Note=Produced by intergenic splicing of LY75 and CD302.; Name=5; IsoId=Q8IX05-2; Sequence=External; Name=3; Synonyms=Fusion protein variant V33-2; IsoId=O60449-3; Sequence=VSP_020908; Note=Produced by intergenic splicing of LY75 and CD302.; Name=1; IsoId=Q8IX05-1; Sequence=External; Note=Produced by intergenic splicing of LY75 and CD302.; 


uniprotID: O15296
geneSymbol: ALOX15B
reactome: R-HSA-2142770;
pdb: 4NRE;
length: 676
go: ENSG00000179593;
snps: rs9895916 rs4792147 rs7225107
name:
Arachidonate 15-lipoxygenase B (15-LOX-B) (EC 1.13.11.33) (15-lipoxygenase 2) (15-LOX-2) (Arachidonate 15-lipoxygenase type II) (Linoleate 13-lipoxygenase 15-LOb) (EC 1.13.11.-)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of membrane [GO:0019898]; intracellular [GO:0005622]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; arachidonate 15-lipoxygenase activity [GO:0050473]; arachidonate 8(S)-lipoxygenase activity [GO:0036403]; calcium ion binding [GO:0005509]; iron ion binding [GO:0005506]; linoleate 13S-lipoxygenase activity [GO:0016165]; lipid binding [GO:0008289]; apoptotic process [GO:0006915]; arachidonic acid metabolic process [GO:0019369]; hepoxilin biosynthetic process [GO:0051122]; linoleic acid metabolic process [GO:0043651]; lipid metabolic process [GO:0006629]; lipoxygenase pathway [GO:0019372]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of growth [GO:0045926]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; prostate gland development [GO:0030850]; regulation of epithelial cell differentiation [GO:0030856]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; Synonyms=15-LOb1; IsoId=O15296-1; Sequence=Displayed; Name=B; Synonyms=15-LOX2sv-b; IsoId=O15296-2; Sequence=VSP_003142, VSP_003143; Name=C; Synonyms=15-LOX2sv-c; IsoId=O15296-3; Sequence=VSP_003144, VSP_003145; Name=D; Synonyms=15-LOX2sv-a, 15-LOb2; IsoId=O15296-4; Sequence=VSP_003142; 

location:
SUBCELLULAR LOCATION: Isoform A: Nucleus. Note=Other isoforms are excluded from the nucleus.; SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Note=Predominantly cytosolic; becomes enriched at membranes upon calcium binding.


uniprotID: Q9BS40
geneSymbol: LXN
pdb: 2BO9;
length: 222
go: ENSG00000079257;
snps: rs8455 rs59718588
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Latexin (Endogenous carboxypeptidase inhibitor) (ECI) (Protein MUM) (Tissue carboxypeptidase inhibitor) (TCI)

sequence:

opentargets:
cytoplasm [GO:0005737]; heparin binding [GO:0008201]; metalloendopeptidase inhibitor activity [GO:0008191]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; inflammatory response [GO:0006954]


uniprotID: P16581
geneSymbol: SELE
reactome: R-HSA-202733;
pdb: 1ESL;1G1T;1KJA;4C16;4CSY;
length: 610
go: ENSG00000007908;
drug: DB01136;DB03721;
snps: rs3917407 rs3917408 rs5360 rs5361 rs3917422 rs5364 rs5366 rs5368 rs3917429 rs5355
name:
E-selectin (CD62 antigen-like family member E) (Endothelial leukocyte adhesion molecule 1) (ELAM-1) (Leukocyte-endothelial cell adhesion molecule 2) (LECAM2) (CD antigen CD62E)

sequence:

opentargets:
caveola [GO:0005901]; clathrin-coated pit [GO:0005905]; cortical cytoskeleton [GO:0030863]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; oligosaccharide binding [GO:0070492]; phospholipase binding [GO:0043274]; sialic acid binding [GO:0033691]; transmembrane signaling receptor activity [GO:0004888]; actin filament-based process [GO:0030029]; activation of phospholipase C activity [GO:0007202]; calcium-mediated signaling [GO:0019722]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; inflammatory response [GO:0006954]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; leukocyte migration involved in inflammatory response [GO:0002523]; leukocyte tethering or rolling [GO:0050901]; positive regulation of receptor internalization [GO:0002092]; regulation of inflammatory response [GO:0050727]; response to interleukin-1 [GO:0070555]; response to lipopolysaccharide [GO:0032496]; response to tumor necrosis factor [GO:0034612]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12649084, ECO:0000269|PubMed:28011641}; Single-pass type I membrane protein.


uniprotID: Q9HBG7
geneSymbol: LY9
length: 655
go: ENSG00000122224;
snps: rs509749
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell membrane {ECO:0000305}.
name:
T-lymphocyte surface antigen Ly-9 (Cell surface molecule Ly-9) (Lymphocyte antigen 9) (SLAM family member 3) (SLAMF3) (Signaling lymphocytic activation molecule 3) (CD antigen CD229)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; innate immune response [GO:0045087]; positive regulation of interleukin-17 production [GO:0032740]; T-helper 17 cell lineage commitment [GO:0072540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9HBG7-1; Sequence=Displayed; Name=2; IsoId=Q9HBG7-2; Sequence=VSP_002525; Name=3; IsoId=Q9HBG7-3; Sequence=VSP_002524, VSP_002525, VSP_002526; Name=4; IsoId=Q9HBG7-4; Sequence=VSP_043328; Note=No experimental confirmation available.; 


uniprotID: P10253
geneSymbol: GAA
reactome: R-HSA-5357609;R-HSA-6798695;R-HSA-70221;
pdb: 5KZW;5KZX;5NN3;5NN4;5NN5;5NN6;5NN8;
length: 952
go: ENSG00000171298;
drug: DB00284;DB05200;DB00491;
name:
Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase]

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; alpha-1,4-glucosidase activity [GO:0004558]; alpha-glucosidase activity [GO:0090599]; carbohydrate binding [GO:0030246]; maltose alpha-glucosidase activity [GO:0032450]; cardiac muscle contraction [GO:0060048]; diaphragm contraction [GO:0002086]; glucose metabolic process [GO:0006006]; glycogen catabolic process [GO:0005980]; heart morphogenesis [GO:0003007]; locomotory behavior [GO:0007626]; lysosome organization [GO:0007040]; maltose metabolic process [GO:0000023]; muscle cell cellular homeostasis [GO:0046716]; neuromuscular process controlling balance [GO:0050885]; neuromuscular process controlling posture [GO:0050884]; neutrophil degranulation [GO:0043312]; regulation of the force of heart contraction [GO:0002026]; sucrose metabolic process [GO:0005985]; tissue development [GO:0009888]; vacuolar sequestering [GO:0043181]

snps:
rs777215354 rs764797280 rs200586324 rs1800299 rs398123174 rs528367092 rs1042393 rs370950728 rs530478036 rs374569672 rs1042395 rs200210219 rs757700700 rs121907944 rs200856561 rs577915581 rs201896815 rs764622267 rs886042086 rs552929702 rs773417785 rs1057516600 rs121907945 rs121907940 rs543300039 rs763091901 rs121907936 rs750030887 rs730880022 rs202095215 rs766074609 rs755253527 rs142752477 rs752002666 rs778634337 rs776008078 rs141533320 rs560575383 rs770610356 rs150868652 rs1358826817 rs778068209 rs772883420 rs398123169 rs786204720 rs121907937 rs1057517146 rs892129065 rs121907941 rs121907942 rs779556619 rs772962666 rs1800307 rs991082382 rs747373179 rs775450536 rs775450536 rs753505203 rs764670084 rs377544304 rs374470794 rs781484283 rs1057517105 rs369531647 rs549029029 rs746961289 rs1414146587 rs757617999 rs1420043899 rs28937909 rs28940868 rs368438393 rs368438393 rs776948121 rs1448515860 rs536906561 rs374143224 rs778418246 rs757111744 rs1800309 rs786204645 rs398123172 rs759292700 rs141017311 rs121907938 rs1381005435 rs1800312 rs1479740763 rs752921215 rs144016984 rs1126690 rs1800314 rs1480070037 rs1800315 rs1245412108 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:17897319}. Lysosome membrane {ECO:0000269|PubMed:17897319}.


uniprotID: P0DP58
geneSymbol: LYNX1
pdb: 1VYE;2L03;
name: Ly-6/neurotoxin-like protein 1 (Endogenous prototoxin LYNX1) (Testicular tissue protein Li 112)
length: 116
go: ENSG00000180155;
sequence:
MTPLLTLILVVLMGLPLAQALDCHVCAYNGDNCFNPMRCPAMVAYCMTTRTYYTPTRMKVSKSCVPRCFETVYDGYSKHASTTSCCQYDLCNGTGLATPATLALAPILLATLWGLL

opentargets:
anchored component of membrane [GO:0031225]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; plasma membrane [GO:0005886]; acetylcholine receptor binding [GO:0033130]; acetylcholine receptor inhibitor activity [GO:0030550]; acetylcholine receptor regulator activity [GO:0030548]; ion channel inhibitor activity [GO:0008200]; regulation of neurotransmitter receptor activity [GO:0099601]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LYNX1 {ECO:0000303|Ref.1}; IsoId=P0DP58-1, Q9BZG9-2; Sequence=Displayed; Name=2; Synonyms=LYNX1-SLURP2 {ECO:0000303|PubMed:26033490}; IsoId=P0DP58-2, Q9BZG9-1; Sequence=VSP_058978; Note=Based on a naturally occurring readthrough transcript which produces a LYNX1-SLURP2 fusion protein. {ECO:0000305|PubMed:26033490}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000255}; Lipid-anchor, GPI-anchor {ECO:0000255}. Cell projection, dendrite {ECO:0000250|UniProtKB:P0DP60}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P0DP60}. Note=Detected in Purkinje cells soma and proximal dendrites. {ECO:0000250|UniProtKB:P0DP60}.


uniprotID: Q9HD34
geneSymbol: LYRM4
reactome: R-HSA-1362409;
pdb: 5USR;5WGB;5WKP;5WLW;
name: LYR motif-containing protein 4
sequence: MAASSRAQVLSLYRAMLRESKRFSAYNYRTYAVRRIRDAFRENKNVKDPVEIQTLVNKAKRDLGVIRRQVHIGQLYSTDKLIIENRDMPRT
length: 91
go: ENSG00000214113;
snps: rs2224391 rs587777218
location: SUBCELLULAR LOCATION: Mitochondrion. Nucleus.
opentargets:
mitochondrial matrix [GO:0005759]; nuclear body [GO:0016604]; small molecule metabolic process [GO:0044281]


uniprotID: Q8N2G4
geneSymbol: LYPD1
reactome: R-HSA-163125;
name: Ly6/PLAUR domain-containing protein 1 (Putative HeLa tumor suppressor) (PHTS)
length: 141
go: ENSG00000150551;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:
MWVLGIAATFCGLFLLPGFALQIQCYQCEEFQLNNDCSSPEFIVNCTVNVQDMCQKEVMEQSAGIMYRKSCASSAACLIASAGYQSFCSPGKLNSVCISCCNTPLCNGPRPKKRGSSASALRPGLRTTILFLKLALFSAHC

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; acetylcholine receptor binding [GO:0033130]; acetylcholine receptor inhibitor activity [GO:0030550]; acetylcholine receptor signaling pathway [GO:0095500]; behavioral fear response [GO:0001662]; negative regulation of protein localization to plasma membrane [GO:1903077]; response to nicotine [GO:0035094]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N2G4-1; Sequence=Displayed; Name=2; IsoId=Q8N2G4-2; Sequence=VSP_021584; Note=No experimental confirmation available.; Name=3; IsoId=Q8N2G4-3; Sequence=VSP_021583; Note=No experimental confirmation available.; Name=4; IsoId=Q8N2G4-4; Sequence=VSP_046981; Note=Gene prediction based on EST data.; 


uniprotID: Q6UXB3
geneSymbol: LYPD2
reactome: R-HSA-163125;
name: Ly6/PLAUR domain-containing protein 2
length: 125
go: ENSG00000197353;
snps: rs11778314 rs11775636
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:
MRGTRLALLALVLAACGELAPALRCYVCPEPTGVSDCVTIATCTTNETMCKTTLYSREIVYPFQGDSTVTKSCASKCKPSDVDGIGQTLPVSCCNTELCNVDGAPALNSLHCGALTLLPLLSLRL

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]


uniprotID: O95274
geneSymbol: LYPD3
reactome: R-HSA-163125;
length: 346
go: ENSG00000124466;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
Ly6/PLAUR domain-containing protein 3 (GPI-anchored metastasis-associated protein C4.4A homolog) (Matrigel-induced gene C4 protein) (MIG-C4)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; laminin binding [GO:0043236]; cell-matrix adhesion [GO:0007160]


uniprotID: Q6UWN0
geneSymbol: LYPD4
reactome: R-HSA-163125;
name: Ly6/PLAUR domain-containing protein 4
length: 246
go: ENSG00000273111;
snps: rs35476281
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWN0-1; Sequence=Displayed; Name=2; IsoId=Q6UWN0-2; Sequence=VSP_017506; Note=No experimental confirmation available.; 


uniprotID: Q86Y78
geneSymbol: LYPD6
pdb: 6GBI;
name: Ly6/PLAUR domain-containing protein 6
length: 171
go: ENSG00000187123;
sequence:
MEPGPALAWLLLLSLLADCLKAAQSRDFTVKDIIYLHPSTTPYPGGFKCFTCEKAADNYECNRWAPDIYCPRETRYCYTQHTMEVTGNSISVTKRCVPLEECLSTGCRDSEHEGHKVCTSCCEGNICNLPLPRNETDATFATTSPINQTNGHPRCMSVIVSCLWLWLGLML

opentargets:
anchored component of membrane [GO:0031225]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; acetylcholine receptor inhibitor activity [GO:0030550]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86Y78-1; Sequence=Displayed; Name=2; IsoId=Q86Y78-2; Sequence=VSP_039306, VSP_039307; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:19653121}. Cell membrane {ECO:0000250|UniProtKB:Q66IA6}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q66IA6}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:D3ZTT2}. Membrane raft {ECO:0000250|UniProtKB:Q66IA6}.


uniprotID: Q6UX82
geneSymbol: LYPD8
reactome: R-HSA-163125;
name: Ly6/PLAUR domain-containing protein 8
length: 237
go: ENSG00000259823;
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; defense response to Gram-negative bacterium [GO:0050829]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9D7S0}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9D7S0}. Secreted {ECO:0000250|UniProtKB:Q9D7S0}. Note=Secreted into the lumen of the colon following cleavage of the GPI-anchor. {ECO:0000250|UniProtKB:Q9D7S0}.


uniprotID: Q5VWZ2
geneSymbol: LYPLAL1
pdb: 3U0V;5KRE;
name: Lysophospholipase-like protein 1 (EC 3.1.2.-)
length: 237
go: ENSG00000143353;
snps: rs940570 rs34201999
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; carboxylic ester hydrolase activity [GO:0052689]; lysophospholipase activity [GO:0004622]; palmitoyl-(protein) hydrolase activity [GO:0008474]; protein depalmitoylation [GO:0002084]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VWZ2-1; Sequence=Displayed; Name=2; IsoId=Q5VWZ2-2; Sequence=VSP_017556; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytosol {ECO:0000269|PubMed:22399288}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol {ECO:0000269|PubMed:22399288}.


uniprotID: P61626
geneSymbol: LYZ
reactome: R-HSA-6798695;R-HSA-6803157;R-HSA-977225;
name: Lysozyme C (EC 3.2.1.17) (1,4-beta-N-acetylmuramidase C)
length: 148
go: ENSG00000090382;
snps: rs121913547 rs121913548 rs1800973
location: SUBCELLULAR LOCATION: Secreted.
pdb:
133L;134L;1B5U;1B5V;1B5W;1B5X;1B5Y;1B5Z;1B7L;1B7M;1B7N;1B7O;1B7P;1B7Q;1B7R;1B7S;1BB3;1BB4;1BB5;1C43;1C45;1C46;1C7P;1CJ6;1CJ7;1CJ8;1CJ9;1CKC;1CKD;1CKF;1CKG;1CKH;1D6P;1D6Q;1DI3;1DI4;1DI5;1EQ4;1EQ5;1EQE;1GAY;1GAZ;1GB0;1GB2;1GB3;1GB5;1GB6;1GB7;1GB8;1GB9;1GBO;1GBW;1GBX;1GBY;1GBZ;1GDW;1GDX;1GE0;1GE1;1GE2;1GE3;1GE4;1GEV;1GEZ;1GF0;1GF3;1GF4;1GF5;1GF6;1GF7;1GF8;1GF9;1GFA;1GFE;1GFG;1GFH;1GFJ;1GFK;1GFR;1GFT;1GFU;1GFV;1HNL;1I1Z;1I20;1I22;1INU;1IOC;1IP1;1IP2;1IP3;1IP4;1IP5;1IP6;1IP7;1IWT;1IWU;1IWV;1IWW;1IWX;1IWY;1IWZ;1IX0;1IY3;1IY4;1JKA;1JKB;1JKC;1JKD;1JSF;1JWR;1LAA;1LHH;1LHI;1LHJ;1LHK;1LHL;1LHM;1LMT;1LOZ;1LYY;1LZ1;1LZ4;1LZ5;1LZ6;1LZR;1LZS;1OP9;1OUA;1OUB;1OUC;1OUD;1OUE;1OUF;1OUG;1OUH;1OUI;1OUJ;1QSW;1RE2;1REM;1REX;1REY;1REZ;1TAY;1TBY;1TCY;1TDY;1UBZ;1W08;1WQM;1WQN;1WQO;1WQP;1WQQ;1WQR;1YAM;1YAN;1YAO;1YAP;1YAQ;207L;208L;2BQA;2BQB;2BQC;2BQD;2BQE;2BQF;2BQG;2BQH;2BQI;2BQJ;2BQK;2BQL;2BQM;2BQN;2BQO;2HEA;2HEB;2HEC;2HED;2HEE;2HEF;2LHM;2MEA;2MEB;2MEC;2MED;2MEE;2MEF;2MEG;2MEH;2MEI;2NWD;2ZIJ;2ZIK;2ZIL;2ZWB;3EBA;3FE0;3LHM;3LN2;4I0C;4ML7;4R0P;5LSH;5LVK;

sequence:
MKALIVLGLVLLSVTVQGKVFERCELARTLKRLGMDGYRGISLANWMCLAKWESGYNTRATNYNAGDRSTDYGIFQINSRYWCNDGKTPGAVNACHLSCSALLQDNIADAVACAKRVVRDPQGIRAWVAWRNRCQNRDVRQYVQGCGV

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; identical protein binding [GO:0042802]; lysozyme activity [GO:0003796]; antimicrobial humoral response [GO:0019730]; cellular protein metabolic process [GO:0044267]; cytolysis [GO:0019835]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; neutrophil degranulation [GO:0043312]; retina homeostasis [GO:0001895]

drug:
DB02159;DB03175;DB03487;DB02759;DB03006;DB04194;DB02250;DB03189;DB03013;DB03967;DB00128;DB04268;DB03120;DB02772;


uniprotID: Q9NQ48
geneSymbol: LZTFL1
reactome: R-HSA-5620922;
name: Leucine zipper transcription factor-like protein 1
length: 299
go: ENSG00000163818;
snps: rs515726135 rs17855512 rs1129183 rs17852322
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20233871, ECO:0000269|PubMed:22072986}.
sequence:

opentargets:
cytosol [GO:0005829]; identical protein binding [GO:0042802]; protein-containing complex binding [GO:0044877]; negative regulation of protein localization to ciliary membrane [GO:1903568]; negative regulation of protein localization to cilium [GO:1903565]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQ48-1; Sequence=Displayed; Name=2; IsoId=Q9NQ48-2; Sequence=VSP_053429; Name=3; IsoId=Q9NQ48-3; Sequence=VSP_053428, VSP_053430; 


uniprotID: Q567V2
geneSymbol: MPV17L2
name: Mpv17-like protein 2
length: 206
go: ENSG00000254858;
snps: rs874628
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial large ribosomal subunit [GO:0005762]; mitochondrial ribosome assembly [GO:0061668]; positive regulation of mitochondrial translation [GO:0070131]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q567V2-1; Sequence=Displayed; Name=2; IsoId=Q567V2-2; Sequence=VSP_031102; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Mitochondrion inner membrane {ECO:0000269|PubMed:24948607}.


uniprotID: A6NDP7
geneSymbol: MYADML2
name: Myeloid-associated differentiation marker-like protein 2
length: 307
go: ENSG00000185105;
opentargets: cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P43359
geneSymbol: MAGEA5
name: Melanoma-associated antigen 5 (Cancer/testis antigen 1.5) (CT1.5) (MAGE-5 antigen)
length: 124
opentargets: regulation of chromosome segregation [GO:0051983]
snps: rs188387
sequence:
MSLEQKSQHCKPEEGLDTQEEALGLVGVQAATTEEQEAVSSSSPLVPGTLGEVPAAGSPGPLKSPQGASAIPTAIDFTLWRQSIKGSSNQEEEGPSTSPDPESVFRAALSKKVADLIHFLLLKY


uniprotID: P41279
geneSymbol: MAP3K8
reactome: R-HSA-389357;R-HSA-5684264;
pdb: 4Y83;4Y85;5IU2;
length: 467
go: ENSG00000107968;
snps: rs3087944
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1833717, ECO:0000269|PubMed:8226782}.
name:
Mitogen-activated protein kinase kinase kinase 8 (EC 2.7.11.25) (Cancer Osaka thyroid oncogene) (Proto-oncogene c-Cot) (Serine/threonine-protein kinase cot) (Tumor progression locus 2) (TPL-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; MAP kinase kinase kinase activity [GO:0004709]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; cell cycle [GO:0007049]; interleukin-1-mediated signaling pathway [GO:0070498]; protein phosphorylation [GO:0006468]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated MAPK cascade [GO:0051403]; stress-activated protein kinase signaling cascade [GO:0031098]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; Synonyms=58 kDa; IsoId=P41279-1; Sequence=Displayed; Name=2; Synonyms=52 kDa; IsoId=P41279-2; Sequence=VSP_018843; 


uniprotID: Q7L5Y9
geneSymbol: MAEA
length: 396
go: ENSG00000090316;
drug: DB05389;
snps: rs34082974
name:
E3 ubiquitin-protein transferase MAEA (EC 2.3.2.27) (Cell proliferation-inducing gene 5 protein) (Erythroblast macrophage protein) (Human lung cancer oncogene 10 protein) (HLC-10) (Macrophage erythroblast attacher) (P44EMLP)

sequence:

opentargets:
actomyosin contractile ring [GO:0005826]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; GID complex [GO:0034657]; integral component of plasma membrane [GO:0005887]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; ubiquitin ligase complex [GO:0000151]; actin binding [GO:0003779]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]; cytoskeleton organization [GO:0007010]; enucleate erythrocyte development [GO:0048822]; erythrocyte maturation [GO:0043249]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of myeloid cell apoptotic process [GO:0033033]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]; regulation of mitotic cell cycle [GO:0007346]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7L5Y9-1; Sequence=Displayed; Name=2; IsoId=Q7L5Y9-2; Sequence=VSP_024786, VSP_024790; Name=3; IsoId=Q7L5Y9-3; Sequence=VSP_024786; Name=4; IsoId=Q7L5Y9-4; Sequence=VSP_024784, VSP_024788; Note=No experimental confirmation available.; Name=5; IsoId=Q7L5Y9-5; Sequence=VSP_024785, VSP_024789; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q4VC33}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17467196, ECO:0000269|PubMed:24143168, ECO:0000269|PubMed:29911972}. Nucleus matrix {ECO:0000269|PubMed:16510120}. Cell membrane {ECO:0000269|PubMed:9763581}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16510120}. Note=Detected in a nuclear, speckled-like pattern (PubMed:16510120). Localized with condensed chromatin at prophase; Detected in nuclear spindle poles at metaphase and in the contractile ring during telophase and cytokinesis (PubMed:16510120). Present in cytoplasm, nuclear matrix and at the cell surface in macrophages; predominantly nuclear in immature macrophages and predominantly detected at the cell surface in mature macrophages. Colocalizes with F-actin in macrophages (By similarity). {ECO:0000250|UniProtKB:Q4VC33, ECO:0000269|PubMed:16510120}.


uniprotID: Q9BZ81
geneSymbol: MAGEB5
name: Melanoma-associated antigen B5 (Cancer/testis antigen 3.3) (CT3.3) (MAGE-B5 antigen)
length: 275
go: ENSG00000188408;
sequence:


uniprotID: Q8N7X4
geneSymbol: MAGEB6
name: Melanoma-associated antigen B6 (Cancer/testis antigen 3.4) (CT3.4) (MAGE-B6 antigen)
length: 407
go: ENSG00000176746;
sequence:


uniprotID: Q96JG8
geneSymbol: MAGED4; MAGED4B
name: Melanoma-associated antigen D4 (MAGE-D4 antigen) (MAGE-E1 antigen)
length: 741
go: ENSG00000154545;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=MAGE-E1a; IsoId=Q96JG8-1; Sequence=Displayed; Name=2; Synonyms=MAGE-E1b; IsoId=Q96JG8-2; Sequence=VSP_009287; Name=3; Synonyms=MAGE-E1c; IsoId=Q96JG8-3; Sequence=VSP_009288, VSP_009289; Name=4; IsoId=Q96JG8-4; Sequence=VSP_035013; Note=No experimental confirmation available.; 


uniprotID: Q8TD90
geneSymbol: MAGEE2
name: Melanoma-associated antigen E2 (Hepatocellular carcinoma-associated protein 3) (MAGE-E2 antigen)
length: 523
go: ENSG00000186675;
snps: rs12688600
sequence:


uniprotID: Q9HAY2
geneSymbol: MAGEF1
name: Melanoma-associated antigen F1 (MAGE-F1) (MAGE-F1 antigen)
length: 307
go: ENSG00000177383;
snps: rs34540780
sequence:

opentargets:
negative regulation of double-strand break repair via homologous recombination [GO:2000042]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; protein maturation by iron-sulfur cluster transfer [GO:0097428]; protein ubiquitination [GO:0016567]


uniprotID: Q9H213
geneSymbol: MAGEH1
name: Melanoma-associated antigen H1 (Apoptosis-related protein 1) (APR-1) (MAGE-H1 antigen) (Restin)
length: 219
go: ENSG00000187601;
opentargets: cytoplasm [GO:0005737]; apoptotic process [GO:0006915]
sequence:


uniprotID: Q9BSK0
geneSymbol: MARVELD1
name: MARVEL domain-containing protein 1
length: 173
go: ENSG00000155254;
sequence:
MLPPPPRQPPPQARAARGAVRLQRPFLRSPLGVLRLLQLLAGAAFWITIATSKYQGPVHFALFVSVLFWLLTLGLYFLTLLGKHELVPVLGSRWLMVNVAHDVLAAALYGAATGIMSDQMQRHSYCNLKDYPLPCAYHAFLAAAVCGGVCHGLYLLSALYGCGRRCQGKQEVA

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; structural constituent of myelin sheath [GO:0019911]; cell cycle [GO:0007049]; myelination [GO:0042552]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus {ECO:0000269|PubMed:19364627}. Note=Observed in the nucleus and at the perinuclear region during interphase, but localizes at the mitotic spindle and midbody at metaphase. A significant fraction of MARVELD1 translocates to the plasma membrane during anaphase or upon microtubule depolymerization (By similarity). {ECO:0000250}.


uniprotID: P50579
geneSymbol: METAP2
reactome: R-HSA-2514859;
length: 478
go: ENSG00000111142;
drug: DB03900;DB07746;DB07309;DB07313;DB02893;DB02640;DB00134;DB01422;DB04324;DB05864;
pdb:
1B59;1B6A;1BN5;1BOA;1KQ0;1KQ9;1QZY;1R58;1R5G;1R5H;1YW7;1YW8;1YW9;2ADU;2EA2;2EA4;2GA2;2OAZ;5CLS;5D6E;5D6F;5JFR;5JHU;5JI6;5LYW;5LYX;

name:
Methionine aminopeptidase 2 (MAP 2) (MetAP 2) (EC 3.4.11.18) (Initiation factor 2-associated 67 kDa glycoprotein) (p67) (p67eIF2) (Peptidase M)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; aminopeptidase activity [GO:0004177]; metal ion binding [GO:0046872]; metalloaminopeptidase activity [GO:0070006]; metalloexopeptidase activity [GO:0008235]; RNA binding [GO:0003723]; N-terminal protein amino acid modification [GO:0031365]; peptidyl-methionine modification [GO:0018206]; protein initiator methionine removal [GO:0070084]; protein processing [GO:0016485]; regulation of rhodopsin mediated signaling pathway [GO:0022400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P50579-1; Sequence=Displayed; Name=2; IsoId=P50579-2; Sequence=VSP_055467, VSP_055468; Note=No experimental confirmation available.; Name=3; IsoId=P50579-3; Sequence=VSP_057353; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03175, ECO:0000269|PubMed:21537465}. Note=About 30% of expressed METAP2 associates with polysomes.


uniprotID: O60337
geneSymbol: MARCH6
reactome: R-HSA-901032;
length: 910
go: ENSG00000145495;
snps: rs1062914
name:
E3 ubiquitin-protein ligase MARCH6 (EC 2.3.2.27) (Doa10 homolog) (Membrane-associated RING finger protein 6) (Membrane-associated RING-CH protein VI) (MARCH-VI) (Protein TEB-4) (RING finger protein 176) (RING-type E3 ubiquitin transferase MARCH6)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; ER ubiquitin ligase complex [GO:0000835]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; enzyme binding [GO:0019899]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; ubiquitin-specific protease binding [GO:1990381]; zinc ion binding [GO:0008270]; endoplasmic reticulum mannose trimming [GO:1904380]; ERAD pathway [GO:0036503]; proteasomal protein catabolic process [GO:0010498]; protein K48-linked ubiquitination [GO:0070936]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60337-4; Sequence=Displayed; Name=2; IsoId=O60337-5; Sequence=VSP_047036; Name=3; IsoId=O60337-6; Sequence=VSP_047035; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15673284}; Multi-pass membrane protein {ECO:0000269|PubMed:15673284}.


uniprotID: O15021
geneSymbol: MAST4
pdb: 2W7R;
name: Microtubule-associated serine/threonine-protein kinase 4 (EC 2.7.11.1)
length: 2623
go: ENSG00000069020;
snps: rs6867856 rs752429440
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O15021-5; Sequence=Displayed; Name=2; IsoId=O15021-2; Sequence=VSP_020888; Note=No experimental confirmation available.; Name=4; IsoId=O15021-4; Sequence=VSP_035852, VSP_035853; Note=No experimental confirmation available.; Name=3; IsoId=O15021-3; Sequence=VSP_023109; Note=No experimental confirmation available.; Name=5; IsoId=O15021-6; Sequence=VSP_059373, VSP_059374; 


uniprotID: P43243
geneSymbol: MATR3
name: Matrin-3
length: 847
go: ENSG00000015479;ENSG00000280987;
snps: rs121434591 rs528548235 rs587777300 rs587777302 rs587777301 rs139589527 rs148402819
location: SUBCELLULAR LOCATION: Nucleus matrix.
sequence:

opentargets:
membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; nuclear matrix [GO:0016363]; identical protein binding [GO:0042802]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; zinc ion binding [GO:0008270]; activation of innate immune response [GO:0002218]; innate immune response [GO:0045087]; posttranscriptional regulation of gene expression [GO:0010608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43243-1; Sequence=Displayed; Name=2; IsoId=P43243-2; Sequence=VSP_042624; Note=No experimental confirmation available.; 


uniprotID: O95460
geneSymbol: MATN4
reactome: R-HSA-3000178;
name: Matrilin-4
length: 622
go: ENSG00000124159;
snps: rs2743307 rs2072788
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O95460-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O95460-2; Sequence=VSP_001400; Name=3; IsoId=O95460-3; Sequence=VSP_015255; Note=No experimental confirmation available.; Name=4; IsoId=O95460-4; Sequence=VSP_001400, VSP_015256; Note=No experimental confirmation available.; 


uniprotID: P61244
geneSymbol: MAX
reactome: R-HSA-1362277;R-HSA-69202;R-HSA-69656;R-HSA-8953750;
pdb: 1AN2;1HLO;1NKP;1NLW;1R05;5EYO;
name: Protein max (Class D basic helix-loop-helix protein 4) (bHLHd4) (Myc-associated factor X)
length: 160
go: ENSG00000125952;
snps: rs201743423 rs772912674 rs760147253
location: SUBCELLULAR LOCATION: Nucleus. Cell projection, dendrite {ECO:0000250}.
sequence:
MSDNDDIEVESDEEQPRFQSAADKRAHHNALERKRRDHIKDSFHSLRDSVPSLQGEKASRAQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; MLL1 complex [GO:0071339]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-DNA complex [GO:0032993]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; 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]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to starvation [GO:0009267]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron apoptotic process [GO:0051402]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein-containing complex assembly [GO:0065003]; response to axon injury [GO:0048678]; response to insulin [GO:0032868]; retina development in camera-type eye [GO:0060041]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long; IsoId=P61244-1, P25912-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P61244-2, P25912-2; Sequence=VSP_002117; Name=3; Synonyms=Delta-Max; IsoId=P61244-3, P25912-3; Sequence=VSP_002118; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=P61244-4; Sequence=VSP_043183; Name=5; IsoId=P61244-5; Sequence=VSP_043430; Note=No experimental confirmation available.; Name=6; IsoId=P61244-6; Sequence=VSP_047661; Note=No experimental confirmation available.; 


uniprotID: Q9BQG0
geneSymbol: MYBBP1A
reactome: R-HSA-5250924;
name: Myb-binding protein 1A
length: 1328
go: ENSG00000132382;
snps: rs3809849 rs899440 rs879797 rs9905742
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; NLS-dependent protein nuclear import complex [GO:0042564]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; E-box binding [GO:0070888]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cellular response to glucose starvation [GO:0042149]; circadian regulation of gene expression [GO:0032922]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoblast differentiation [GO:0001649]; positive regulation of anoikis [GO:2000210]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of gene expression, epigenetic [GO:0045815]; regulation of transcription, DNA-templated [GO:0006355]; respiratory electron transport chain [GO:0022904]; ribosome biogenesis [GO:0042254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQG0-1; Sequence=Displayed; Name=2; IsoId=Q9BQG0-2; Sequence=VSP_014786; Note=May be due to competing donor and acceptor splice sites.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12429849}. Nucleus {ECO:0000269|PubMed:12429849}. Nucleus, nucleolus {ECO:0000269|PubMed:12429849}. Note=Shuttles between the nucleus and cytoplasm. Nuclear import may be mediated by KPNA2, while export appears to depend partially on XPO1/CRM1 (By similarity). Predominantly nucleolar. {ECO:0000250|UniProtKB:Q7TPV4}.


uniprotID: Q96PC5
geneSymbol: MIA2
name: Melanoma inhibitory activity protein 2
length: 1412
go: ENSG00000150527;
sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipoprotein transporter activity [GO:0042954]; cargo loading into vesicle [GO:0035459]; ER to Golgi vesicle-mediated transport [GO:0006888]; lipoprotein transport [GO:0042953]; protein secretion [GO:0009306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=TALI {ECO:0000303|PubMed:27138255}; IsoId=Q96PC5-3; Sequence=Displayed; Note=Readthrough transcript producing a functional fusion protein MIA2-CTAGE5 with similarity to MIA3. {ECO:0000305|PubMed:21807889, ECO:0000305|PubMed:27138255}; Name=2; IsoId=Q96PC5-2; Sequence=VSP_058472, VSP_058473; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21807889}; Single-pass membrane protein {ECO:0000269|PubMed:21807889}. Note=Endoplasmic reticulum exit sites. {ECO:0000269|PubMed:21807889}.


uniprotID: Q9BSU3
geneSymbol: NAA11
length: 229
go: ENSG00000156269;
snps: rs3811765 rs17003712
name:
N-alpha-acetyltransferase 11 (EC 2.3.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog B) (hARD2) (NatA catalytic subunit Naa11)

sequence:

opentargets:
cytosolic ribosome [GO:0022626]; NatA complex [GO:0031415]; nucleus [GO:0005634]; peptide alpha-N-acetyltransferase activity [GO:0004596]; peptide-glutamate-N-acetyltransferase activity [GO:1990190]; peptide-serine-N-acetyltransferase activity [GO:1990189]; N-terminal peptidyl-glutamic acid acetylation [GO:0018002]; N-terminal peptidyl-serine acetylation [GO:0017198]; N-terminal protein amino acid acetylation [GO:0006474]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16638120}. Nucleus {ECO:0000269|PubMed:16638120}.


uniprotID: Q147X3
geneSymbol: NAA30
reactome: R-HSA-6811440;
length: 362
go: ENSG00000139977;
name:
N-alpha-acetyltransferase 30 (EC 2.3.1.256) (N-acetyltransferase 12) (N-acetyltransferase MAK3 homolog) (NatC catalytic subunit)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; NatC complex [GO:0031417]; nucleus [GO:0005634]; peptide alpha-N-acetyltransferase activity [GO:0004596]; N-terminal peptidyl-methionine acetylation [GO:0017196]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q147X3-1; Sequence=Displayed; Name=2; IsoId=Q147X3-2; Sequence=VSP_031581; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19398576, ECO:0000269|PubMed:25732826}. Nucleus {ECO:0000269|PubMed:25732826}.


uniprotID: Q9H7X0
geneSymbol: NAA60
pdb: 5HGZ;5HH0;5HH1;5ICV;5ICW;
length: 242
go: ENSG00000122390;
snps: rs34464545
name:
N-alpha-acetyltransferase 60 (hNaa60) (EC 2.3.1.259) (Histone acetyltransferase type B protein 4) (HAT4) (EC 2.3.1.48) (N-acetyltransferase 15) (N-alpha-acetyltransferase F) (NatF)

sequence:

opentargets:
Golgi membrane [GO:0000139]; H4 histone acetyltransferase activity [GO:0010485]; peptide alpha-N-acetyltransferase activity [GO:0004596]; protein homodimerization activity [GO:0042803]; cell proliferation [GO:0008283]; chromosome segregation [GO:0007059]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; N-terminal peptidyl-methionine acetylation [GO:0017196]; N-terminal protein amino acid acetylation [GO:0006474]; nucleosome assembly [GO:0006334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H7X0-1; Sequence=Displayed; Name=2; IsoId=Q9H7X0-2; Sequence=VSP_044123; Note=In placenta and leukocytes, expressed from the maternal allele, due to imprinting of the paternal allele.; Name=3; IsoId=Q9H7X0-3; Sequence=VSP_044122; Note=Produced by alternative splicing. No experimental confirmation available.; Name=4; IsoId=Q9H7X0-4; Sequence=VSP_044124; Note=Produced by alternative splicing. No experimental confirmation available.; Name=5; IsoId=Q9H7X0-5; Sequence=VSP_044125; Note=Produced by alternative splicing. No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:21981917, ECO:0000269|PubMed:25732826}; Peripheral membrane protein {ECO:0000269|PubMed:25732826}; Cytoplasmic side {ECO:0000269|PubMed:25732826}. Note=Probably forms a intramembrane hairpin-like structure in the membrane. {ECO:0000305|PubMed:25732826}.


uniprotID: Q93015
geneSymbol: NAA80
length: 286
go: ENSG00000243477;
snps: rs200439690
name:
N-alpha-acetyltransferase 80 (HsNAAA80) (EC 2.3.1.-) (N-acetyltransferase 6) (Protein fusion-2) (Protein fus-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; acetyl-CoA binding [GO:1905502]; N-acetyltransferase activity [GO:0008080]; peptide alpha-N-acetyltransferase activity [GO:0004596]; actin modification [GO:0030047]; N-terminal peptidyl-aspartic acid acetylation [GO:0017190]; N-terminal peptidyl-glutamic acid acetylation [GO:0018002]; protein acetylation [GO:0006473]; regulation of actin polymerization or depolymerization [GO:0008064]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q93015-1; Sequence=Displayed; Name=2; IsoId=Q93015-2; Sequence=VSP_037187; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10644992, ECO:0000269|PubMed:30028079}.


uniprotID: Q02083
geneSymbol: NAAA
reactome: R-HSA-112310;
pdb: 6DXW;
length: 359
go: ENSG00000138744;
snps: rs34751328 rs4859571 rs6823734
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000305|PubMed:10610717, ECO:0000305|PubMed:15655246}.
name:
N-acylethanolamine-hydrolyzing acid amidase (EC 3.5.1.-) (Acid ceramidase-like protein) (N-acylsphingosine amidohydrolase-like) (ASAH-like protein) [Cleaved into: N-acylethanolamine-hydrolyzing acid amidase subunit alpha; N-acylethanolamine-hydrolyzing acid amidase subunit beta]

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; presynapse [GO:0098793]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [GO:0016810]; transcription factor binding [GO:0008134]; lipid metabolic process [GO:0006629]; neurotransmitter secretion [GO:0007269]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q02083-1; Sequence=Displayed; Name=2; IsoId=Q02083-2; Sequence=VSP_000330; Name=3; IsoId=Q02083-3; Sequence=VSP_000328, VSP_000329; Note=No experimental confirmation available.; 


uniprotID: Q15742
geneSymbol: NAB2
length: 525
go: ENSG00000166886;
name:
NGFI-A-binding protein 2 (EGR-1-binding protein 2) (Melanoma-associated delayed early response protein) (Protein MADER)

sequence:

opentargets:
nucleus [GO:0005634]; identical protein binding [GO:0042802]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell proliferation [GO:0008283]; endochondral ossification [GO:0001958]; myelination [GO:0042552]; negative regulation of transcription by RNA polymerase III [GO:0016480]; nervous system development [GO:0007399]; positive regulation of tau-protein kinase activity [GO:1902949]; regulation of epidermis development [GO:0045682]; regulation of transcription, DNA-templated [GO:0006355]; Schwann cell differentiation [GO:0014037]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15742-1; Sequence=Displayed; Name=2; IsoId=Q15742-2; Sequence=VSP_003385, VSP_003386; Name=3; IsoId=Q15742-3; Sequence=VSP_003387; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Isoform 2 is not localized to the nucleus. {ECO:0000250}.


uniprotID: P57103
geneSymbol: SLC8A3
reactome: R-HSA-418359;R-HSA-425561;R-HSA-5578775;R-HSA-8949215;
name: Sodium/calcium exchanger 3 (Na(+)/Ca(2+)-exchange protein 3) (Solute carrier family 8 member 3)
length: 927
go: ENSG00000100678;
sequence:

opentargets:
cell junction [GO:0030054]; dendritic spine [GO:0043197]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; intrinsic component of plasma membrane [GO:0031226]; microtubule [GO:0005874]; mitochondrial outer membrane [GO:0005741]; neuromuscular junction [GO:0031594]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; sarcoplasm [GO:0016528]; calcium:sodium antiporter activity [GO:0005432]; calmodulin binding [GO:0005516]; ion antiporter activity involved in regulation of postsynaptic membrane potential [GO:0099580]; metal ion binding [GO:0046872]; calcium ion export across plasma membrane [GO:1990034]; calcium ion import across plasma membrane [GO:0098703]; calcium ion transmembrane transport [GO:0070588]; cell communication [GO:0007154]; cellular calcium ion homeostasis [GO:0006874]; cellular response to cAMP [GO:0071320]; cellular response to hypoxia [GO:0071456]; hematopoietic progenitor cell differentiation [GO:0002244]; ion transport [GO:0006811]; learning [GO:0007612]; long-term synaptic potentiation [GO:0060291]; memory [GO:0007613]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; myelination [GO:0042552]; oligodendrocyte differentiation [GO:0048709]; regulation of cardiac conduction [GO:1903779]; regulation of skeletal muscle contraction [GO:0014819]; sodium ion transmembrane transport [GO:0035725]; telencephalon development [GO:0021537]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=3; Synonyms=NCX3.3; IsoId=P57103-1; Sequence=Displayed; Name=2; Synonyms=NCX3.2; IsoId=P57103-2; Sequence=VSP_008116; Name=4; Synonyms=NCX3.4; IsoId=P57103-3; Sequence=VSP_008117, VSP_008118; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; Synonyms=NCX3-tN.1; IsoId=P57103-4; Sequence=VSP_043125; Note=Expressed in fetal brain.; Name=6; Synonyms=NCX3-tN.2; IsoId=P57103-5; Sequence=VSP_043126, VSP_008116; Note=Expressed in fetal brain.; Name=7; IsoId=P57103-6; Sequence=VSP_043850; Name=8; IsoId=P57103-7; Sequence=VSP_044502; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21959935}; Multi-pass membrane protein {ECO:0000305}. Perikaryon {ECO:0000250|UniProtKB:P70549}. Cell projection, dendrite {ECO:0000250|UniProtKB:P70549}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:P70549}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:S4R2P9}. Cytoplasm, sarcoplasm {ECO:0000250|UniProtKB:S4R2P9}. Cell junction {ECO:0000250|UniProtKB:S4R2P9}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:S4R2P9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:S4R2P9}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21959935}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:21959935}; Multi-pass membrane protein {ECO:0000250|UniProtKB:S4R2P9}. Note=Detected at neuromuscular junctions. {ECO:0000250|UniProtKB:S4R2P9}.


uniprotID: E9PAV3
geneSymbol: NACA
length: 2078
go: ENSG00000196531;
opentargets: nascent polypeptide-associated complex [GO:0005854]; nucleus [GO:0005634]; DNA binding [GO:0003677]
snps: rs2958127 rs2926743 rs185561121 rs2926747 rs2958149
name:
Nascent polypeptide-associated complex subunit alpha, muscle-specific form (Alpha-NAC, muscle-specific form) (skNAC)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=skNAC; IsoId=E9PAV3-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=1; IsoId=Q13765-1; Sequence=External; Name=skNAC-2; Synonyms=2; IsoId=E9PAV3-2; Sequence=VSP_053722, VSP_053723; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P70670}. Nucleus {ECO:0000250|UniProtKB:P70670}.


uniprotID: Q16674
geneSymbol: MIA
pdb: 1HJD;1I1J;1K0X;5IXB;
name: Melanoma-derived growth regulatory protein (Melanoma inhibitory activity protein)
length: 131
go: ENSG00000261857;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MARSLVCLGVIILLSAFSGPGVRGGPMPKLADRKLCADQECSHPISMAVALQDYMAPDCRFLTIHRGQVVYVFSKLKGRGRLFWGGSVQGDYYGDLAARLGYFPSSIVREDQTLKPGKVDVKTDKWDFYCQ

opentargets:
extracellular space [GO:0005615]; growth factor activity [GO:0008083]; cell proliferation [GO:0008283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16674-1; Sequence=Displayed; Name=2; Synonyms=MIA-splice; IsoId=Q16674-2; Sequence=VSP_044450; 


uniprotID: Q86YT6
geneSymbol: MIB1
reactome: R-HSA-2122948;R-HSA-2644606;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-9013507;
pdb: 4TSE;4XI6;4XI7;4XIB;
length: 1006
go: ENSG00000101752;
snps: rs755375969 rs200035428
name:
E3 ubiquitin-protein ligase MIB1 (EC 2.3.2.27) (DAPK-interacting protein 1) (DIP-1) (Mind bomb homolog 1) (RING-type E3 ubiquitin transferase MIB1) (Zinc finger ZZ type with ankyrin repeat domain protein 2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; blood vessel development [GO:0001568]; endocytosis [GO:0006897]; heart looping [GO:0001947]; in utero embryonic development [GO:0001701]; negative regulation of neuron differentiation [GO:0045665]; neural tube formation [GO:0001841]; Notch signaling pathway [GO:0007219]; positive regulation of endocytosis [GO:0045807]; protein ubiquitination [GO:0016567]; somitogenesis [GO:0001756]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24121310}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24121310}. Cell membrane {ECO:0000250}. Note=Localizes to the plasma membrane (By similarity). According to PubMed:15048887, it is mitochondrial, however such localization remains unclear. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}.


uniprotID: Q9BWU0
geneSymbol: SLC4A1AP
pdb: 4H87;
length: 796
go: ENSG00000163798;
snps: rs9678851 rs9679004
name:
Kanadaptin (Human lung cancer oncogene 3 protein) (HLC-3) (Kidney anion exchanger adapter protein) (Solute carrier family 4 anion exchanger member 1 adapter protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; mRNA binding [GO:0003729]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15764369}. Cytoplasm {ECO:0000269|PubMed:15764369}. Note=Mainly nuclear. Small amounts are found in the cytoplasm.


uniprotID: L0R8F8
geneSymbol: MIEF1
pdb: 5OOL;5OOM;
name: MIEF1 upstream open reading frame protein (Alternative MIEF1 protein) (AltMIEF1)
sequence: MAPWSREAVLSLYRALLRQGRQLRYTDRDFYFASIRREFRKNQKLEDAEARERQLEKGLVFLNGKLGRII
length: 70
opentargets: mitochondrion [GO:0005739]; ribosome biogenesis [GO:0042254]
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:28892042, ECO:0000269|PubMed:29083303}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=3; Synonyms=uORF {ECO:0000303|PubMed:25621764}, AltMIEF1 {ECO:0000303|PubMed:29083303}; IsoId=L0R8F8-1; Sequence=Displayed; Note=Product of the upstream open reading frame of this bicistronic gene. {ECO:0000305|PubMed:25621764}; Name=1; IsoId=Q9NQG6-1; Sequence=External; Name=2; IsoId=Q9NQG6-2; Sequence=External; 


uniprotID: Q8N3F8
geneSymbol: MICALL1
pdb: 2KSP;
name: MICAL-like protein 1 (Molecule interacting with Rab13) (MIRab13)
length: 863
go: ENSG00000100139;
snps: rs9610875 rs2272829 rs34834842
sequence:

opentargets:
extrinsic component of membrane [GO:0019898]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; recycling endosome membrane [GO:0055038]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; phosphatidic acid binding [GO:0070300]; Rab GTPase binding [GO:0017137]; cellular response to nerve growth factor stimulus [GO:1990090]; endocytosis [GO:0006897]; neuron projection development [GO:0031175]; plasma membrane tubulation [GO:0097320]; protein localization to endosome [GO:0036010]; protein targeting to membrane [GO:0006612]; receptor-mediated endocytosis [GO:0006898]; retrograde transport, endosome to plasma membrane [GO:1990126]; slow endocytic recycling [GO:0032458]

location:
SUBCELLULAR LOCATION: Recycling endosome membrane; Peripheral membrane protein. Late endosome membrane. Note=Localization to late endosomes is actin-dependent. Association to tubular recycling endosomes is regulated by RAB35 and ARF6.


uniprotID: Q8IYU8
geneSymbol: MICU2
reactome: R-HSA-8949215;R-HSA-8949664;
name: Calcium uptake protein 2, mitochondrial (EF-hand domain-containing family member A1)
length: 434
go: ENSG00000165487;
snps: rs17853349
sequence:

opentargets:
calcium channel complex [GO:0034704]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; uniplex complex [GO:1990246]; calcium ion binding [GO:0005509]; protein heterodimerization activity [GO:0046982]; calcium import into the mitochondrion [GO:0036444]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; negative regulation of mitochondrial calcium ion concentration [GO:0051562]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000269|PubMed:24231807, ECO:0000269|PubMed:24560927, ECO:0000269|PubMed:26774479, ECO:0000269|PubMed:27099988}.


uniprotID: Q96T58
geneSymbol: SPEN
pdb: 1OW1;2RT5;4P6Q;
name: Msx2-interacting protein (SMART/HDAC1-associated repressor protein) (SPEN homolog)
length: 3664
go: ENSG00000065526;
snps: rs848208 rs848209 rs12095818 rs848210
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11331609}. Note=Associates with chromatin.
sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; RNA polymerase II transcription factor binding [GO:0001085]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; positive regulation of neurogenesis [GO:0050769]; viral process [GO:0016032]


