# annotation

uniprotID: Q96F46
geneSymbol: IL17RA
reactome: R-HSA-448424;
pdb: 3JVF;4HSA;4NUX;5N9B;5NAN;
name: Interleukin-17 receptor A (IL-17 receptor A) (IL-17RA) (CDw217) (CD antigen CD217)
length: 866
go: ENSG00000177663;
snps: rs879577 rs12484684 rs17850765
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; interleukin-17 receptor activity [GO:0030368]; signaling receptor binding [GO:0005102]; cell surface receptor signaling pathway [GO:0007166]; defense response to fungus [GO:0050832]; fibroblast activation [GO:0072537]; granulocyte chemotaxis [GO:0071621]; interleukin-17-mediated signaling pathway [GO:0097400]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of interleukin-13 secretion [GO:2000667]; positive regulation of interleukin-23 production [GO:0032747]; positive regulation of interleukin-5 secretion [GO:2000664]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96F46-1; Sequence=Displayed; Name=2; IsoId=Q96F46-2; Sequence=VSP_053496; Note=Soluble isoform lacking the transmembrane segment.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:17911633}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:24084331}.


uniprotID: Q8NAC3
geneSymbol: IL17RC
reactome: R-HSA-448424;
length: 791
go: ENSG00000163702;
snps: rs708567
name:
Interleukin-17 receptor C (IL-17 receptor C) (IL-17RC) (Interleukin-17 receptor homolog) (IL17Rhom) (Interleukin-17 receptor-like protein) (IL-17RL) (ZcytoR14)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-17 receptor activity [GO:0030368]; signaling receptor binding [GO:0005102]; defense response to fungus [GO:0050832]; granulocyte chemotaxis [GO:0071621]; interleukin-17-mediated signaling pathway [GO:0097400]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of interleukin-6 secretion [GO:2000778]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q8NAC3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8NAC3-2; Sequence=VSP_014138; Name=3; IsoId=Q8NAC3-3; Sequence=VSP_014138, VSP_014139; Note=No experimental confirmation available.; Name=4; IsoId=Q8NAC3-4; Sequence=VSP_014138, VSP_014139, VSP_014140, VSP_014141; Note=No experimental confirmation available.; Name=5; Synonyms=IL17RC {ECO:0000303|PubMed:17911633}; IsoId=Q8NAC3-5; Sequence=VSP_014138, VSP_047292; Name=6; Synonyms=IL17RC-delta7,12 {ECO:0000303|PubMed:17911633}; IsoId=Q8NAC3-6; Sequence=VSP_014138, VSP_014139, VSP_047291; Name=7; Synonyms=IL17RC-delta12 {ECO:0000303|PubMed:17911633}; IsoId=Q8NAC3-7; Sequence=VSP_014138, VSP_047291, VSP_047292; Name=8; Synonyms=IL17RC-delta7 {ECO:0000303|PubMed:17911633}; IsoId=Q8NAC3-8; Sequence=VSP_014138, VSP_014139, VSP_047292; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17911633}; Single-pass type I membrane protein {ECO:0000255}. Note=Soluble isoforms may be produced.


uniprotID: O95256
geneSymbol: IL18RAP
reactome: R-HSA-9012546;
pdb: 3WO4;
length: 599
go: ENSG00000115607;
snps: rs11465716
name:
Interleukin-18 receptor accessory protein (IL-18 receptor accessory protein) (IL-18RAcP) (Accessory protein-like) (AcPL) (CD218 antigen-like family member B) (CDw218b) (IL-1R accessory protein-like) (IL-1RAcPL) (Interleukin-1 receptor 7) (IL-1R-7) (IL-1R7) (Interleukin-18 receptor accessory protein-like) (Interleukin-18 receptor beta) (IL-18R-beta) (IL-18Rbeta) (CD antigen CD218b)

sequence:

opentargets:
interleukin-18 receptor complex [GO:0045092]; plasma membrane [GO:0005886]; interleukin-18 receptor activity [GO:0042008]; cell proliferation [GO:0008283]; cellular response to hydrogen peroxide [GO:0070301]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interferon-gamma production [GO:0032609]; interleukin-18-mediated signaling pathway [GO:0035655]; interleukin-6 production [GO:0032635]; neutrophil activation [GO:0042119]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; T-helper 1 cell cytokine production [GO:0035744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95256-1; Sequence=Displayed; Name=2; IsoId=O95256-2; Sequence=VSP_056295; Note=No experimental confirmation available.; Name=3; Synonyms=IL-18RAPshort {ECO:0000303|PubMed:17897836}; IsoId=O95256-3; Sequence=VSP_059116, VSP_059117; Name=4; IsoId=O95256-4; Sequence=VSP_059114, VSP_059115; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14528293}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q6UXL0
geneSymbol: IL20RB
reactome: R-HSA-8854691;
pdb: 4DOH;6DF3;
length: 311
go: ENSG00000174564;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
name:
Interleukin-20 receptor subunit beta (IL-20 receptor subunit beta) (IL-20R-beta) (IL-20RB) (Fibronectin type III domain containing 6) (FNDC6) (IL-20R2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-20 binding [GO:0042015]; cytokine-mediated signaling pathway [GO:0019221]; homeostasis of number of cells within a tissue [GO:0048873]; immune response-inhibiting signal transduction [GO:0002765]; inflammatory response to antigenic stimulus [GO:0002437]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of type IV hypersensitivity [GO:0001808]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-4 production [GO:0032753]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXL0-1; Sequence=Displayed; Name=2; IsoId=Q6UXL0-3; Sequence=VSP_054905, VSP_054906, VSP_054907; Note=No experimental confirmation available.; 


uniprotID: Q9UBH0
geneSymbol: IL36RN
reactome: R-HSA-9014826;
pdb: 4P0J;4P0K;4P0L;
length: 155
go: ENSG00000136695;
snps: rs387906914 rs28938777 rs151325121 rs144478519 rs397514629
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-36 receptor antagonist protein (IL-36Ra) (FIL1 delta) (IL-1-related protein 3) (IL-1RP3) (Interleukin-1 HY1) (IL-1HY1) (Interleukin-1 delta) (IL-1 delta) (Interleukin-1 family member 5) (IL-1F5) (Interleukin-1 receptor antagonist homolog 1) (IL-1ra homolog 1) (Interleukin-1-like protein 1) (IL-1L1)

sequence:
MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILGVQGGSQCLSCGVGQEPTLTLEPVNIMELYLGAKESKSFTFYRRDMGLTSSFESAAYPGWFLCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-1 receptor antagonist activity [GO:0005152]; interleukin-1 receptor binding [GO:0005149]; antifungal humoral response [GO:0019732]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; negative regulation of interferon-gamma secretion [GO:1902714]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of interleukin-6 production [GO:0032715]; neutrophil chemotaxis [GO:0030593]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]


uniprotID: Q14642
geneSymbol: INPP5A
reactome: R-HSA-1855183;
name: Type I inositol 1,4,5-trisphosphate 5-phosphatase (5PTase) (EC 3.1.3.56)
length: 412
go: ENSG00000068383;
snps: rs1133400
location: SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
sequence:

opentargets:
intracellular [GO:0005622]; membrane [GO:0016020]; plasma membrane [GO:0005886]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; inositol-polyphosphate 5-phosphatase activity [GO:0004445]; PH domain binding [GO:0042731]; inositol phosphate dephosphorylation [GO:0046855]; inositol phosphate metabolic process [GO:0043647]; inositol phosphate-mediated signaling [GO:0048016]; phosphatidylinositol dephosphorylation [GO:0046856]


uniprotID: Q8WUF5
geneSymbol: PPP1R13L
reactome: R-HSA-6804759;
pdb: 2VGE;
length: 828
go: ENSG00000104881;
name:
RelA-associated inhibitor (Inhibitor of ASPP protein) (Protein iASPP) (NFkB-interacting protein 1) (PPP1R13B-like protein)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; apoptotic process [GO:0006915]; cardiac muscle contraction [GO:0060048]; cardiac right ventricle morphogenesis [GO:0003215]; embryonic camera-type eye development [GO:0031076]; hair cycle [GO:0042633]; multicellular organism growth [GO:0035264]; multicellular organismal homeostasis [GO:0048871]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell differentiation [GO:0045597]; post-embryonic development [GO:0009791]; regulation of signal transduction by p53 class mediator [GO:1901796]; transcription, DNA-templated [GO:0006351]; ventricular cardiac muscle tissue development [GO:0003229]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15489900}. Nucleus {ECO:0000269|PubMed:10336463, ECO:0000269|PubMed:15489900}. Note=Predominantly cytoplasmic but also nuclear. {ECO:0000269|PubMed:15489900}.


uniprotID: Q9HC38
geneSymbol: GLOD4
pdb: 3ZI1;
name: Glyoxalase domain-containing protein 4
length: 313
go: ENSG00000167699;
opentargets: extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; cadherin binding [GO:0045296]
snps: rs17851349
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:12897971}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HC38-1; Sequence=Displayed; Name=2; IsoId=Q9HC38-2; Sequence=VSP_023646; Name=3; IsoId=Q9HC38-3; Sequence=VSP_023646, VSP_023647, VSP_023648; Note=No experimental confirmation available.; 


uniprotID: Q9P2D0
geneSymbol: IBTK
name: Inhibitor of Bruton tyrosine kinase (IBtk)
length: 1353
go: ENSG00000005700;
snps: rs12662902 rs9449444
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; protein kinase binding [GO:0019901]; protein tyrosine kinase inhibitor activity [GO:0030292]; negative regulation of protein phosphorylation [GO:0001933]; release of sequestered calcium ion into cytosol [GO:0051209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=IBtk-alpha; IsoId=Q9P2D0-1; Sequence=Displayed; Name=2; Synonyms=IBtk-beta; IsoId=Q9P2D0-2; Sequence=VSP_023602, VSP_023604; Note=Due to a partial intron retention.; Name=3; Synonyms=IBtk-gamma; IsoId=Q9P2D0-3; Sequence=VSP_023600, VSP_023601; Note=Due to a partial intron retention.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane upon IgM stimulation.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.


uniprotID: Q9ULW2
geneSymbol: FZD10
reactome: R-HSA-373080;
name: Frizzled-10 (Fz-10) (hFz10) (FzE7) (CD antigen CD350)
length: 581
go: ENSG00000111432;
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; canonical Wnt signaling pathway [GO:0060070]; cellular response to retinoic acid [GO:0071300]; negative regulation of GTPase activity [GO:0034260]; neuron differentiation [GO:0030182]; non-canonical Wnt signaling pathway [GO:0035567]; non-canonical Wnt signaling pathway via JNK cascade [GO:0038031]; positive regulation of GTPase activity [GO:0043547]; positive regulation of JUN kinase activity [GO:0043507]; regulation of actin cytoskeleton organization [GO:0032956]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:19188438}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O43716
geneSymbol: GATC
length: 136
go: ENSG00000257218;
snps: rs17431446
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03149, ECO:0000269|PubMed:19805282}.
name:
Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial (Glu-AdT subunit C) (EC 6.3.5.-) (Protein 15E1.2)

sequence:
MWSRLVWLGLRAPLGGRQGFTSKADPQGSGRITAAVIEHLERLALVDFGSREAVARLEKAIAFADRLRAVDTDGVEPMESVLEDRCLYLRSDNVVEGNCADELLQNSHRVVEEYFVAPPGNISLPKLDEQEPFPHS

opentargets:
glutamyl-tRNA(Gln) amidotransferase complex [GO:0030956]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity [GO:0050567]; glutaminyl-tRNAGln biosynthesis via transamidation [GO:0070681]; mitochondrial translation [GO:0032543]; regulation of translational fidelity [GO:0006450]


uniprotID: Q99988
geneSymbol: GDF15
pdb: 5VT2;5VZ3;5VZ4;
length: 308
go: ENSG00000130513;
snps: rs1059519 rs1059369 rs1058587
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28572090, ECO:0000269|PubMed:29046435}.
name:
Growth/differentiation factor 15 (GDF-15) (Macrophage inhibitory cytokine 1) (MIC-1) (NSAID-activated gene 1 protein) (NAG-1) (NSAID-regulated gene 1 protein) (NRG-1) (Placental TGF-beta) (Placental bone morphogenetic protein) (Prostate differentiation factor)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein homodimerization activity [GO:0042803]; transforming growth factor beta receptor binding [GO:0005160]; activation of MAPK activity [GO:0000187]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; cell-cell signaling [GO:0007267]; glial cell-derived neurotrophic factor receptor signaling pathway [GO:0035860]; negative regulation of growth hormone receptor signaling pathway [GO:0060400]; negative regulation of multicellular organism growth [GO:0040015]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of protein kinase B signaling [GO:0051897]; reduction of food intake in response to dietary excess [GO:0002023]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; signal transduction [GO:0007165]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q6ZNI0
geneSymbol: GCNT7
reactome: R-HSA-913709;
name: Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 (EC 2.4.1.-)
length: 430
snps: rs34552628 rs3746627
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; acetylglucosaminyltransferase activity [GO:0008375]; protein glycosylation [GO:0006486]


uniprotID: Q5YKI7
geneSymbol: GGNBP1
name: Putative gametogenetin-binding protein 1
length: 109
sequence:
MKEEDSSFKLCVPGIVALQSPPNKAFRSTDTVGFLESELKKLLGMQQESRLWKLGSQEGRELLTRPEITVVEGEGYEVQRRLRHLPSPISVAQCLLLEEKGEMGNWPPE

opentargets:
Golgi apparatus [GO:0005794]; membrane [GO:0016020]; cell differentiation [GO:0030154]; mitochondrial fission [GO:0000266]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5YKI7-1; Sequence=Displayed; Name=2; IsoId=Q5YKI7-2; Sequence=VSP_019174; 

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


uniprotID: Q9H840
geneSymbol: GEMIN7
reactome: R-HSA-191859;
pdb: 1Y96;
name: Gem-associated protein 7 (Gemin-7) (SIP3)
length: 131
go: ENSG00000142252;
sequence:
MQTPVNIPVPVLRLPRGPDGFSRGFAPDGRRAPLRPEVPEIQECPIAQESLESQEQRARAALRERYLRSLLAMVGHQVSFTLHEGVRVAAHFGATDLDVANFYVSQLQTPIGVQAEALLRCSDIISYTFKP

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; spliceosomal snRNP assembly [GO:0000387]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:12065586}. Nucleus, gem {ECO:0000269|PubMed:12065586}. Cytoplasm {ECO:0000269|PubMed:12065586}. Note=Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.


uniprotID: Q8WWP7
geneSymbol: GIMAP1
pdb: 3V70;
name: GTPase IMAP family member 1 (Immunity-associated protein 1) (hIMAP1)
length: 306
go: ENSG00000213203;
snps: rs7811263
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; GTP binding [GO:0005525]

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


uniprotID: Q9BX51
geneSymbol: GGTLC1
length: 225
go: ENSG00000149435;
name:
Glutathione hydrolase light chain 1 (Gamma-glutamyltransferase light chain 1) (Gamma-glutamyltransferase-like activity 4) (Gamma-glutamyltransferase-like protein 6)

sequence:

opentargets:
glutathione hydrolase activity [GO:0036374]; glutathione catabolic process [GO:0006751]; leukotriene D4 biosynthetic process [GO:1901750]


uniprotID: P0CL81
geneSymbol: GAGE12G
name: G antigen 12G (GAGE-12G)
length: 117
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC


uniprotID: A0A0B4J1X5
geneSymbol: IGHV3-74
name: Immunoglobulin heavy variable 3-74
length: 117
go: ENSG00000224650;
sequence:
MEFGLSWVFLVAILKGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSSYWMHWVRQAPGKGLVWVSRINSDGSSTSYADSVKGRFTISRDNAKNTLYLQMNSLRAEDTAVYYCAR


uniprotID: A0A087WSY4
geneSymbol: IGHV4-30-2
name: Immunoglobulin heavy variable 4-30-2
length: 118
go: ENSG00000231475;
sequence:
MKHLWFFLLLVAAPRWVLSQLQLQESGSGLVKPSQTLSLTCAVSGGSISSGGYSWSWIRQPPGKGLEWIGYIYHSGSTYYNPSLKSRVTISVDRSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: A0A0J9YXX1
geneSymbol: IGHV5-10-1
name: Immunoglobulin heavy variable 5-10-1
length: 117
sequence:
MGSTAILALLLAVLQGVCAEVQLVQSGAEVKKPGESLRISCKGSGYSFTSYWISWVRQMPGKGLEWMGRIDPSDSYTNYSPSFQGHVTISADKSISTAYLQWSSLKASDTAMYYCAR


uniprotID: A0A0B4J1U7
geneSymbol: IGHV6-1
name: Immunoglobulin heavy variable 6-1
length: 121
go: ENSG00000211933;
sequence:
MSVSFLIFLPVLGLPWGVLSQVQLQQSGPGLVKPSQTLSLTCAISGDSVSSNSAAWNWIRQSPSRGLEWLGRTYYRSKWYNDYAVSVKSRITINPDTSKNQFSLQLNSVTPEDTAVYYCAR


uniprotID: A0A0B4J2H0
geneSymbol: IGHV1-69D
pdb: 5WKZ;
name: Immunoglobulin heavy variable 1-69D
length: 117
go: ENSG00000280411;
sequence:
MDWTWRFLFVVAAATGVQSQVQLVQSGAEVKKPGSSVKVSCKASGGTFSSYAISWVRQAPGQGLEWMGGIIPIFGTANYAQKFQGRVTITADESTSTAYMELSSLRSEDTAVYYCAR


uniprotID: P31271
geneSymbol: HOXA13
pdb: 2L7Z;
name: Homeobox protein Hox-A13 (Homeobox protein Hox-1J)
length: 388
go: ENSG00000106031;
snps: rs121912542
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; skeletal system development [GO:0001501]


uniprotID: P49639
geneSymbol: HOXA1
reactome: R-HSA-5617472;
name: Homeobox protein Hox-A1 (Homeobox protein Hox-1F)
length: 335
snps: rs10951154 rs17500494
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P09022}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; sequence-specific DNA binding [GO:0043565]; abducens nerve formation [GO:0021599]; anatomical structure morphogenesis [GO:0009653]; artery development [GO:0060840]; artery morphogenesis [GO:0048844]; cochlea development [GO:0090102]; cochlea morphogenesis [GO:0090103]; cognition [GO:0050890]; embryonic neurocranium morphogenesis [GO:0048702]; inner ear development [GO:0048839]; multicellular organism development [GO:0007275]; neuromuscular process [GO:0050905]; optokinetic behavior [GO:0007634]; outer ear morphogenesis [GO:0042473]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of behavior [GO:0050795]; semicircular canal formation [GO:0060876]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; Synonyms=36 kDa; IsoId=P49639-1; Sequence=Displayed; Name=1; Synonyms=14 kDa; IsoId=P49639-2; Sequence=VSP_002376, VSP_002377; Note=Lacks the homeobox domain.; Name=2; Synonyms=24 kDa; IsoId=P49639-3; Sequence=VSP_002378, VSP_002379; Note=Lacks the homeobox domain.; 


uniprotID: P38567
geneSymbol: SPAM1
reactome: R-HSA-2534343;
length: 509
go: ENSG00000106304;
snps: rs34633019
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
name:
Hyaluronidase PH-20 (Hyal-PH20) (EC 3.2.1.35) (Hyaluronoglucosaminidase PH-20) (Sperm adhesion molecule 1) (Sperm surface protein PH-20)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; plasma membrane [GO:0005886]; hyalurononglucosaminidase activity [GO:0004415]; binding of sperm to zona pellucida [GO:0007339]; carbohydrate metabolic process [GO:0005975]; cell adhesion [GO:0007155]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P38567-1; Sequence=Displayed; Name=2; IsoId=P38567-2; Sequence=VSP_042714; Note=No experimental confirmation available.; 


uniprotID: Q9Y4L1
geneSymbol: HYOU1
reactome: R-HSA-3000484;R-HSA-381038;
length: 999
go: ENSG00000149428;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
name:
Hypoxia up-regulated protein 1 (150 kDa oxygen-regulated protein) (ORP-150) (170 kDa glucose-regulated protein) (GRP-170)

sequence:

opentargets:
endocytic vesicle lumen [GO:0071682]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; membrane [GO:0016020]; smooth endoplasmic reticulum [GO:0005790]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; cellular response to hypoxia [GO:0071456]; ER to Golgi vesicle-mediated transport [GO:0006888]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903382]; negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway [GO:1903298]; receptor-mediated endocytosis [GO:0006898]; response to endoplasmic reticulum stress [GO:0034976]; response to ischemia [GO:0002931]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y4L1-1; Sequence=Displayed; Name=2; IsoId=Q9Y4L1-2; Sequence=VSP_056364, VSP_056365, VSP_056366; Note=No experimental confirmation available.; 


uniprotID: Q92990
geneSymbol: GLMN
reactome: R-HSA-983168;
pdb: 4F52;
name: Glomulin (FK506-binding protein-associated protein) (FAP) (FKBP-associated protein)
length: 594
go: ENSG00000174842;
snps: rs35258161
sequence:

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; Cul3-RING ubiquitin ligase complex [GO:0031463]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytoplasm [GO:0005737]; intracellular [GO:0005622]; hepatocyte growth factor receptor binding [GO:0005171]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase inhibitor activity [GO:0055105]; muscle cell differentiation [GO:0042692]; negative regulation of T cell proliferation [GO:0042130]; neural tube closure [GO:0001843]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of phosphorylation [GO:0042327]; regulation of gene expression, epigenetic [GO:0040029]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=FAP68, FKBP-associated protein 68 kDa; IsoId=Q92990-1; Sequence=Displayed; Name=2; Synonyms=FAP48, FKBP-associated protein 48 kDa; IsoId=Q92990-2; Sequence=VSP_008882, VSP_008883; 


uniprotID: Q9UF12
geneSymbol: PRODH2
reactome: R-HSA-389661;R-HSA-70688;
length: 536
go: ENSG00000250799;
snps: rs3848666 rs3761097
name:
Hydroxyproline dehydrogenase (HYPDH) (EC 1.5.5.3) (Kidney and liver proline oxidase 1) (HsPOX1) (Probable proline dehydrogenase 2) (EC 1.5.5.2) (Probable proline oxidase 2)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; FAD binding [GO:0071949]; oxidoreductase activity, acting on the CH-NH group of donors [GO:0016645]; proline dehydrogenase activity [GO:0004657]; glyoxylate metabolic process [GO:0046487]; proline catabolic process [GO:0006562]; proline catabolic process to glutamate [GO:0010133]


uniprotID: Q9NX55
geneSymbol: HYPK
pdb: 6C95;
name: Huntingtin-interacting protein K (Huntingtin yeast partner K)
length: 129
go: ENSG00000242028;
snps: rs12702
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:
MRRRGEIDMATEGDVELELETETSGPERPPEKPRKHDSGAADLERVTDYAEEKEIQSSNLETAMSVIGDRRSREQKAKQEREKELAKVTIKKEDLELIMTEMEISRAAAERSLREHMGNVVEALIALTN

opentargets:
cytoplasm [GO:0005737]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein N-terminus binding [GO:0047485]; negative regulation of apoptotic process [GO:0043066]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9NX55-2; Sequence=Displayed; Name=3; IsoId=Q9NX55-3; Sequence=VSP_040677, VSP_040678; 


uniprotID: Q13651
geneSymbol: IL10RA
reactome: R-HSA-6783783;
pdb: 1J7V;1LQS;1Y6K;1Y6M;1Y6N;5IXI;
length: 578
go: ENSG00000110324;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Interleukin-10 receptor subunit alpha (IL-10 receptor subunit alpha) (IL-10R subunit alpha) (IL-10RA) (CDw210a) (Interleukin-10 receptor subunit 1) (IL-10R subunit 1) (IL-10R1) (CD antigen CD210)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-10 binding [GO:0019969]; interleukin-10 receptor activity [GO:0004920]; signaling receptor activity [GO:0038023]; cytokine-mediated signaling pathway [GO:0019221]; regulation of synapse organization [GO:0050807]; response to lipopolysaccharide [GO:0032496]

snps:
rs4252250 rs137853580 rs368287711 rs4252303 rs199989396 rs137853579 rs3135932 rs4252273 rs2228055 rs149491038 rs2229113 rs35235073 rs2229114 


uniprotID: Q9H2X8
geneSymbol: IFI27L2
length: 130
go: ENSG00000119632;
name:
Interferon alpha-inducible protein 27-like protein 2 (Interferon-stimulated gene 12b protein) (ISG12(b)) (ISG12B) (Protein TLH29) (pIFI27-like protein)

sequence:
MMKRAAAAAVGGALAVGAVPVVLSAMGFTGAGIAASSIAAKMMSAAAIANGGGVSAGSLVATLQSVGAAGLSTSSNILLASVGSVLGACLGNSPSSSLPAEPEAKEDEARENVPQGEPPKPPLKSEKHEE

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:27673746}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P15104
geneSymbol: GLUL
reactome: R-HSA-210455;R-HSA-70614;
pdb: 2OJW;2QC8;
length: 373
go: ENSG00000135821;
drug: DB06774;DB01212;DB01119;DB08794;DB00142;DB00130;DB00134;DB00082;DB00466;
snps: rs80358214 rs80358215
name:
Glutamine synthetase (GS) (EC 6.3.1.2) (Glutamate--ammonia ligase) (Palmitoyltransferase GLUL) (EC 2.3.1.225)

sequence:

opentargets:
axon terminus [GO:0043679]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glial cell projection [GO:0097386]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perikaryon [GO:0043204]; protein-containing complex [GO:0032991]; rough endoplasmic reticulum [GO:0005791]; ATP binding [GO:0005524]; dynein light chain binding [GO:0045503]; glutamate binding [GO:0016595]; glutamate decarboxylase activity [GO:0004351]; glutamate-ammonia ligase activity [GO:0004356]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; ammonia assimilation cycle [GO:0019676]; cell proliferation [GO:0008283]; cellular amino acid biosynthetic process [GO:0008652]; cellular response to starvation [GO:0009267]; glutamate catabolic process [GO:0006538]; glutamine biosynthetic process [GO:0006542]; neurotransmitter uptake [GO:0001504]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of insulin secretion [GO:0032024]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; protein homooligomerization [GO:0051260]; response to glucose [GO:0009749]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:30158707}. Microsome {ECO:0000250|UniProtKB:P09606}. Mitochondrion {ECO:0000250|UniProtKB:P09606}. Cell membrane {ECO:0000269|PubMed:30158707}; Lipid-anchor {ECO:0000269|PubMed:30158707}. Note=Mainly localizes in the cytosol, with a fraction associated with the cell membrane. {ECO:0000269|PubMed:30158707}.


uniprotID: Q9H1B7
geneSymbol: IRF2BPL
pdb: 2B9G;2CS3;
name: Interferon regulatory factor 2-binding protein-like (Enhanced at puberty protein 1)
length: 796
go: ENSG00000119669;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; development of secondary female sexual characteristics [GO:0046543]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: P16260
geneSymbol: SLC25A16
reactome: R-HSA-196783;
length: 332
go: ENSG00000122912;
name:
Graves disease carrier protein (GDC) (Graves disease autoantigen) (GDA) (Mitochondrial solute carrier protein homolog) (Solute carrier family 25 member 16)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; antiporter activity [GO:0015297]; secondary active transmembrane transporter activity [GO:0015291]; coenzyme biosynthetic process [GO:0009108]; mitochondrial transport [GO:0006839]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11158296}; Multi-pass membrane protein {ECO:0000269|PubMed:11158296}.


uniprotID: P39905
geneSymbol: GDNF
reactome: R-HSA-419037;R-HSA-5673001;R-HSA-8853659;
pdb: 2V5E;3FUB;4UX8;
name: Glial cell line-derived neurotrophic factor (hGDNF) (Astrocyte-derived trophic factor) (ATF)
length: 211
go: ENSG00000168621;
drug: DB05066;
snps: rs777451569 rs36119840 rs76466003 rs104893891 rs121918536
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9811930}.
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; chemoattractant activity involved in axon guidance [GO:1902379]; growth factor activity [GO:0008083]; protein homodimerization activity [GO:0042803]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; adult locomotory behavior [GO:0008344]; axon guidance [GO:0007411]; branching involved in ureteric bud morphogenesis [GO:0001658]; commissural neuron axon guidance [GO:0071679]; dorsal spinal cord development [GO:0021516]; embryonic organ development [GO:0048568]; enteric nervous system development [GO:0048484]; MAPK cascade [GO:0000165]; mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003337]; metanephros development [GO:0001656]; mRNA stabilization [GO:0048255]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; neuron projection development [GO:0031175]; organ induction [GO:0001759]; peristalsis [GO:0030432]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of dopamine secretion [GO:0033603]; positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0072108]; positive regulation of monooxygenase activity [GO:0032770]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of ureteric bud formation [GO:0072107]; postganglionic parasympathetic fiber development [GO:0021784]; postsynaptic membrane organization [GO:0001941]; regulation of dopamine uptake involved in synaptic transmission [GO:0051584]; regulation of gene expression [GO:0010468]; regulation of morphogenesis of a branching structure [GO:0060688]; regulation of semaphorin-plexin signaling pathway [GO:2001260]; regulation of stem cell differentiation [GO:2000736]; signal transduction [GO:0007165]; sympathetic nervous system development [GO:0048485]; ureteric bud formation [GO:0060676]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Ex1_4L; IsoId=P39905-1; Sequence=Displayed; Name=2; Synonyms=ATF-1, Ex1_4S, Ex3_4S, HFK2-GDNF; IsoId=P39905-2; Sequence=VSP_006420; Name=3; Synonyms=Ex2_4L, HFK3-GDNF; IsoId=P39905-3; Sequence=VSP_026368; Name=4; Synonyms=HFK4-GDNF; IsoId=P39905-4; Sequence=VSP_026368, VSP_006420; Name=5; Synonyms=Ex4S_5; IsoId=P39905-5; Sequence=VSP_042298; Note=No experimental confirmation available.; 


uniprotID: A0A0C4DH43
geneSymbol: IGHV2-70D
name: Immunoglobulin heavy variable 2-70D
length: 119
go: ENSG00000211974;
sequence:
MDILCSTLLLLTVPSWVLSQVTLKESGPALVKPTQTLTLTCTFSGFSLSTSGMRVSWIRQPPGKALEWLARIDWDDDKFYSTSLKTRLTISKDTSKNQVVLTMTNMDPVDTATYYCARI


uniprotID: P31260
geneSymbol: HOXA10
name: Homeobox protein Hox-A10 (Homeobox protein Hox-1.8) (Homeobox protein Hox-1H) (PL)
length: 410
go: ENSG00000253293;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anterior/posterior pattern specification [GO:0009952]; embryonic limb morphogenesis [GO:0030326]; male gonad development [GO:0008584]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]; single fertilization [GO:0007338]; skeletal system development [GO:0001501]; spermatogenesis [GO:0007283]; uterus development [GO:0060065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PL1; IsoId=P31260-1; Sequence=Displayed; Name=2; Synonyms=PL2; IsoId=P31260-2; Sequence=VSP_002384, VSP_002385; 


uniprotID: P20719
geneSymbol: HOXA5
name: Homeobox protein Hox-A5 (Homeobox protein Hox-1C)
length: 270
go: ENSG00000106004;
location: SUBCELLULAR LOCATION: Nucleus.
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]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; bronchiole development [GO:0060435]; cell migration [GO:0016477]; cell-cell signaling involved in mammary gland development [GO:0060764]; embryonic skeletal system morphogenesis [GO:0048704]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; intestinal epithelial cell maturation [GO:0060574]; lung alveolus development [GO:0048286]; lung goblet cell differentiation [GO:0060480]; lung-associated mesenchyme development [GO:0060484]; mammary gland alveolus development [GO:0060749]; mammary gland epithelial cell differentiation [GO:0060644]; mesenchymal-epithelial cell signaling [GO:0060638]; multicellular organism growth [GO:0035264]; negative regulation of angiogenesis [GO:0016525]; negative regulation of erythrocyte differentiation [GO:0045647]; positive regulation of apoptotic process [GO:0043065]; positive regulation of myeloid cell differentiation [GO:0045639]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of mammary gland epithelial cell proliferation [GO:0033599]; respiratory system process [GO:0003016]; thyroid gland development [GO:0030878]; trachea cartilage morphogenesis [GO:0060535]


uniprotID: P31268
geneSymbol: HOXA7
name: Homeobox protein Hox-A7 (Homeobox protein Hox 1.1) (Homeobox protein Hox-1A)
length: 230
go: ENSG00000122592;
snps: rs2301721
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of keratinocyte differentiation [GO:0045617]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of monocyte differentiation [GO:0045656]; 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]; stem cell differentiation [GO:0048863]


uniprotID: P09629
geneSymbol: HOXB7
name: Homeobox protein Hox-B7 (Homeobox protein HHO.C1) (Homeobox protein Hox-2C)
length: 217
go: ENSG00000260027;
snps: rs7406910
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; multicellular organism development [GO:0007275]; myeloid cell differentiation [GO:0030099]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: P17481
geneSymbol: HOXB8
name: Homeobox protein Hox-B8 (Homeobox protein Hox-2.4) (Homeobox protein Hox-2D)
length: 243
go: ENSG00000120068;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; adult locomotory behavior [GO:0008344]; anterior/posterior pattern specification [GO:0009952]; dorsal spinal cord development [GO:0021516]; embryonic skeletal system morphogenesis [GO:0048704]; grooming behavior [GO:0007625]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of transcription by RNA polymerase II [GO:0000122]; sensory perception of pain [GO:0019233]


uniprotID: Q9NYD6
geneSymbol: HOXC10
name: Homeobox protein Hox-C10 (Homeobox protein Hox-3I)
length: 342
go: ENSG00000180818;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; embryonic limb morphogenesis [GO:0030326]; negative regulation of cold-induced thermogenesis [GO:0120163]; neuromuscular process [GO:0050905]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]; skeletal system development [GO:0001501]; spinal cord motor neuron cell fate specification [GO:0021520]


uniprotID: P31275
geneSymbol: HOXC12
name: Homeobox protein Hox-C12 (Homeobox protein Hox-3F)
length: 282
go: ENSG00000123407;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; multicellular organism development [GO:0007275]


uniprotID: P09017
geneSymbol: HOXC4
reactome: R-HSA-5617472;
name: Homeobox protein Hox-C4 (Homeobox protein CP19) (Homeobox protein Hox-3E)
length: 264
go: ENSG00000198353;
snps: rs11835301 rs35406888
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; cartilage development [GO:0051216]; embryonic skeletal system morphogenesis [GO:0048704]; positive regulation of transcription by RNA polymerase II [GO:0045944]; skeletal system development [GO:0001501]


uniprotID: P28358
geneSymbol: HOXD10
name: Homeobox protein Hox-D10 (Homeobox protein Hox-4D) (Homeobox protein Hox-4E)
length: 340
go: ENSG00000128710;
snps: rs104893634
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; adult locomotory behavior [GO:0008344]; anterior/posterior pattern specification [GO:0009952]; embryonic limb morphogenesis [GO:0030326]; embryonic skeletal system morphogenesis [GO:0048704]; forelimb morphogenesis [GO:0035136]; hindlimb morphogenesis [GO:0035137]; neuromuscular process [GO:0050905]; peripheral nervous system neuron development [GO:0048935]; proximal/distal pattern formation [GO:0009954]; single fertilization [GO:0007338]; skeletal muscle tissue development [GO:0007519]; spinal cord motor neuron cell fate specification [GO:0021520]


uniprotID: P31277
geneSymbol: HOXD11
name: Homeobox protein Hox-D11 (Homeobox protein Hox-4F)
length: 338
go: ENSG00000128713;
snps: rs376305712
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; branching involved in ureteric bud morphogenesis [GO:0001658]; dorsal/ventral pattern formation [GO:0009953]


uniprotID: P31249
geneSymbol: HOXD3
reactome: R-HSA-5617472;
name: Homeobox protein Hox-D3 (Homeobox protein Hox-4A)
length: 432
go: ENSG00000128652;
snps: rs1051932
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
aggresome [GO:0016235]; nuclear body [GO:0016604]; 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]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; cartilage development [GO:0051216]; cell-matrix adhesion [GO:0007160]; embryonic skeletal system morphogenesis [GO:0048704]; glossopharyngeal nerve morphogenesis [GO:0021615]; Notch signaling pathway [GO:0007219]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; thyroid gland development [GO:0030878]; transcription, DNA-templated [GO:0006351]


uniprotID: P09016
geneSymbol: HOXD4
reactome: R-HSA-5617472;
length: 255
go: ENSG00000170166;
snps: rs34727427
location: SUBCELLULAR LOCATION: Nucleus.
name:
Homeobox protein Hox-D4 (Homeobox protein HHO.C13) (Homeobox protein Hox-4B) (Homeobox protein Hox-5.1)

sequence:

opentargets:
cell junction [GO:0030054]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; skeletal system development [GO:0001501]


uniprotID: P13378
geneSymbol: HOXD8
name: Homeobox protein Hox-D8 (Homeobox protein Hox-4E) (Homeobox protein Hox-5.4)
length: 290
go: ENSG00000175879;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior axis specification, embryo [GO:0008595]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; skeletal system morphogenesis [GO:0048705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13378-1; Sequence=Displayed; Name=2; IsoId=P13378-2; Sequence=VSP_042856; Note=No experimental confirmation available.; Name=3; IsoId=P13378-3; Sequence=VSP_045862, VSP_045863; Note=No experimental confirmation available.; 


uniprotID: P01215
geneSymbol: CGA
pdb: 1DZ7;1E9J;1FL7;1HCN;1HD4;1HRP;1QFW;1XUL;1XWD;4AY9;4MQW;
length: 116
go: ENSG00000135346;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:24692546, ECO:0000269|PubMed:2494176}.
reactome:
R-HSA-193048;R-HSA-193993;R-HSA-209822;R-HSA-209968;R-HSA-375281;R-HSA-418555;R-HSA-8866910;R-HSA-975578;

name:
Glycoprotein hormones alpha chain (Anterior pituitary glycoprotein hormones common subunit alpha) (Choriogonadotropin alpha chain) (Chorionic gonadotrophin subunit alpha) (CG-alpha) (Follicle-stimulating hormone alpha chain) (FSH-alpha) (Follitropin alpha chain) (Luteinizing hormone alpha chain) (LSH-alpha) (Lutropin alpha chain) (Thyroid-stimulating hormone alpha chain) (TSH-alpha) (Thyrotropin alpha chain)

sequence:
MDYYRKYAAIFLVTLSVFLHVLHSAPDVQDCPECTLQENPFFSQPGAPILQCMGCCFSRAYPTPLRSKKTMLVQKNVTSESTCCVAKSYNRVTVMGGFKVENHTACHCSTCYYHKS

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; follicle-stimulating hormone complex [GO:0016914]; Golgi lumen [GO:0005796]; follicle-stimulating hormone activity [GO:0016913]; hormone activity [GO:0005179]; G protein-coupled receptor signaling pathway [GO:0007186]; peptide hormone processing [GO:0016486]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of steroid biosynthetic process [GO:0010893]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of signaling receptor activity [GO:0010469]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P19367
geneSymbol: HK1
reactome: R-HSA-5619056;R-HSA-70171;
pdb: 1CZA;1DGK;1HKB;1HKC;1QHA;4F9O;4FOE;4FOI;4FPA;4FPB;
name: Hexokinase-1 (EC 2.7.1.1) (Brain form hexokinase) (Hexokinase type I) (HK I)
length: 917
go: ENSG00000156515;
drug: DB02007;DB02379;DB09502;DB04395;
snps: rs137853249 rs398122379 rs1054203 rs777849213
sequence:

opentargets:
cytosol [GO:0005829]; membrane raft [GO:0045121]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; fructokinase activity [GO:0008865]; glucokinase activity [GO:0004340]; glucose binding [GO:0005536]; hexokinase activity [GO:0004396]; identical protein binding [GO:0042802]; mannokinase activity [GO:0019158]; peptidoglycan binding [GO:0042834]; canonical glycolysis [GO:0061621]; carbohydrate phosphorylation [GO:0046835]; cellular glucose homeostasis [GO:0001678]; establishment of protein localization to mitochondrion [GO:0072655]; glycolytic process [GO:0006096]; maintenance of protein location in mitochondrion [GO:0072656]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of interleukin-1 beta secretion [GO:0050718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Common; IsoId=P19367-1; Sequence=Displayed; Name=2; Synonyms=Erythrocyte, R; IsoId=P19367-2; Sequence=VSP_002071; Name=3; Synonyms=TA, TB; IsoId=P19367-3; Sequence=VSP_002072; Name=4; Synonyms=TD; IsoId=P19367-4; Sequence=VSP_002073; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.


uniprotID: P10071
geneSymbol: GLI3
reactome: R-HSA-5610785;R-HSA-5610787;R-HSA-5632684;R-HSA-5635851;R-HSA-8940973;
pdb: 4BLD;
length: 1580
go: ENSG00000106571;
snps: rs846266 rs121917712 rs121917716 rs121917710 rs62622373 rs28933372 rs929387 rs35280470 rs35364414
name:
Transcriptional activator GLI3 (GLI3 form of 190 kDa) (GLI3-190) (GLI3 full-length protein) (GLI3FL) [Cleaved into: Transcriptional repressor GLI3R (GLI3 C-terminally truncated form) (GLI3 form of 83 kDa) (GLI3-83)]

sequence:

opentargets:
axoneme [GO:0005930]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; mediator complex binding [GO:0036033]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior semicircular canal development [GO:0060873]; anterior/posterior pattern specification [GO:0009952]; artery development [GO:0060840]; axon guidance [GO:0007411]; branching involved in ureteric bud morphogenesis [GO:0001658]; camera-type eye morphogenesis [GO:0048593]; cell differentiation involved in kidney development [GO:0061005]; developmental growth [GO:0048589]; embryonic digestive tract development [GO:0048566]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic digit morphogenesis [GO:0042733]; embryonic skeletal system morphogenesis [GO:0048704]; forebrain dorsal/ventral pattern formation [GO:0021798]; forebrain radial glial cell differentiation [GO:0021861]; frontal suture morphogenesis [GO:0060364]; heart development [GO:0007507]; hindgut morphogenesis [GO:0007442]; hippocampus development [GO:0021766]; in utero embryonic development [GO:0001701]; lambdoid suture morphogenesis [GO:0060366]; lateral ganglionic eminence cell proliferation [GO:0022018]; lateral semicircular canal development [GO:0060875]; layer formation in cerebral cortex [GO:0021819]; limb morphogenesis [GO:0035108]; liver regeneration [GO:0097421]; lung development [GO:0030324]; mammary gland specification [GO:0060594]; melanocyte differentiation [GO:0030318]; metanephros development [GO:0001656]; negative regulation of alpha-beta T cell differentiation [GO:0046639]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative thymic T cell selection [GO:0045060]; nose morphogenesis [GO:0043585]; odontogenesis of dentin-containing tooth [GO:0042475]; oligodendrocyte differentiation [GO:0048709]; optic nerve morphogenesis [GO:0021631]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate gland development [GO:0030850]; protein processing [GO:0016485]; proximal/distal pattern formation [GO:0009954]; regulation of bone development [GO:1903010]; response to estrogen [GO:0043627]; roof of mouth development [GO:0060021]; sagittal suture morphogenesis [GO:0060367]; smoothened signaling pathway [GO:0007224]; smoothened signaling pathway involved in dorsal/ventral neural tube patterning [GO:0060831]; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification [GO:0021776]; smoothened signaling pathway involved in ventral spinal cord interneuron specification [GO:0021775]; T cell differentiation in thymus [GO:0033077]; thymocyte apoptotic process [GO:0070242]; tongue development [GO:0043586]; wound healing [GO:0042060]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cell projection, cilium. Note=GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. Translocation to the nucleus is promoted by interaction with ZIC1.


uniprotID: P10075
geneSymbol: GLI4
name: Zinc finger protein GLI4 (Krueppel-related zinc finger protein 4) (Protein HKR4)
length: 376
go: ENSG00000250571;
snps: rs1056148
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q9BZE0
geneSymbol: GLIS2
name: Zinc finger protein GLIS2 (GLI-similar 2) (Neuronal Krueppel-like protein)
length: 524
go: ENSG00000126603;
snps: rs8057701
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250}. Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; non-motile cilium [GO:0097730]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; cell differentiation involved in kidney development [GO:0061005]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription from RNA polymerase II promoter involved in kidney development [GO:0060994]


uniprotID: O43820
geneSymbol: HYAL3
reactome: R-HSA-2024101;R-HSA-2160916;
length: 417
go: ENSG00000186792;
snps: rs13100173
name:
Hyaluronidase-3 (Hyal-3) (EC 3.2.1.35) (Hyaluronoglucosaminidase-3) (Lung carcinoma protein 3) (LuCa-3)

sequence:

opentargets:
acrosomal membrane [GO:0002080]; acrosomal vesicle [GO:0001669]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; sperm midpiece [GO:0097225]; hyaluronoglucuronidase activity [GO:0033906]; hyalurononglucosaminidase activity [GO:0004415]; carbohydrate metabolic process [GO:0005975]; cartilage development [GO:0051216]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to UV-B [GO:0071493]; hyaluronan catabolic process [GO:0030214]; inflammatory response [GO:0006954]; negative regulation of ovarian follicle development [GO:2000355]; ovarian follicle atresia [GO:0001552]; penetration of zona pellucida [GO:0007341]; positive regulation of acrosomal vesicle exocytosis [GO:2000368]; response to antibiotic [GO:0046677]; response to virus [GO:0009615]; viral entry into host cell [GO:0046718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43820-1; Sequence=Displayed; Name=2; Synonyms=HYAL3v1; IsoId=O43820-2; Sequence=VSP_020194; Note=Enzymatically inactive.; Name=3; Synonyms=HYAL3v2; IsoId=O43820-3; Sequence=VSP_020192, VSP_020193; Note=Enzymatically inactive.; Name=4; Synonyms=HYAL3v3; IsoId=O43820-4; Sequence=VSP_020192, VSP_020193, VSP_020194; Note=Enzymatically inactive.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8VEI3}. Cell membrane {ECO:0000250|UniProtKB:Q8VEI3}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q8VEI3}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q8VEI3}. Early endosome {ECO:0000250|UniProtKB:Q8VEI3}. Note=Mostly present in low-density vesicles. Low levels in higher density vesicles of late endosomes and lysosomes. Localized in punctate cytoplasmic vesicles and in perinuclear structures, but does not colocalize with LAMP1. Localized on the plasma membrane over the acrosome and on the surface of the midpiece of the sperm tail. {ECO:0000250|UniProtKB:Q8VEI3}.


uniprotID: Q9H706
geneSymbol: GAREM1
pdb: 2DKZ;
name: GRB2-associated and regulator of MAPK protein 1 (GRB2-associated and regulator of MAPK1)
length: 876
go: ENSG00000141441;
snps: rs671138 rs3744921 rs16962974 rs3891458 rs2276374
sequence:

opentargets:
plasma membrane [GO:0005886]; proline-rich region binding [GO:0070064]; cellular response to epidermal growth factor stimulus [GO:0071364]; epidermal growth factor receptor signaling pathway [GO:0007173]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H706-1; Sequence=Displayed; Name=2; Synonyms=GAREM(S); IsoId=Q9H706-2; Sequence=VSP_023047; Name=3; IsoId=Q9H706-3; Sequence=VSP_023048; 


uniprotID: P07902
geneSymbol: GALT
reactome: R-HSA-5609978;R-HSA-70370;
pdb: 1R3A;5IN3;6GQD;
length: 379
go: ENSG00000213930;
name:
Galactose-1-phosphate uridylyltransferase (Gal-1-P uridylyltransferase) (EC 2.7.7.12) (UDP-glucose--hexose-1-phosphate uridylyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; UDP-glucose:hexose-1-phosphate uridylyltransferase activity [GO:0008108]; zinc ion binding [GO:0008270]; galactose catabolic process [GO:0019388]; galactose catabolic process via UDP-galactose [GO:0033499]; galactose metabolic process [GO:0006012]; UDP-glucose catabolic process [GO:0006258]; UDP-glucose metabolic process [GO:0006011]

snps:
rs111033637 rs111033635 rs111033636 rs111033636 rs111033644 rs111033829 rs111033836 rs111033646 rs111033647 rs111033647 rs111033652 rs111033648 rs111033648 rs111033654 rs1800461 rs111033658 rs111033663 rs111033665 rs111033666 rs111033669 rs111033670 rs367543252 rs111033677 rs111033678 rs111033679 rs111033673 rs111033674 rs111033675 rs111033680 rs111033682 rs111033683 rs367543255 rs367543256 rs111033688 rs111033690 rs111033690 rs111033686 rs111033687 rs111033695 rs111033695 rs111033692 rs111033697 rs111033693 rs111033694 rs111033693 rs111033699 rs111033701 rs111033702 rs367543257 rs111033708 rs367543258 rs111033839 rs111033715 rs111033718 rs111033720 rs111033828 rs367543259 rs111033721 rs111033717 rs111033722 rs111033722 rs111033826 rs75391579 rs111033830 rs111033734 rs111033726 rs111033728 rs111033729 rs1483461355 rs111033730 rs111033739 rs111033735 rs111033736 rs111033740 rs111033744 rs111033744 rs111033741 rs111033747 rs111033750 rs111033752 rs111033846 rs111033753 rs111033749 rs111033754 rs111033757 rs111033755 rs111033755 rs111033769 rs368166217 rs886042070 rs786204763 rs111033763 rs111033764 rs111033766 rs111033778 rs111033772 rs111033773 rs367543263 rs111033774 rs111033775 rs111033780 rs111033841 rs111033781 rs111033784 rs2070074 rs111033787 rs111033786 rs111033792 rs111033795 rs111033796 rs111033796 rs111033798 rs111033794 rs111033832 rs111033802 rs111033803 rs111033804 rs111033800 rs111033808 rs111033808 rs111033800 rs111033809 rs111033810 rs111033812 rs111033814 rs111033815 rs111033817 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07902-1; Sequence=Displayed; Name=2; IsoId=P07902-2; Sequence=VSP_045604, VSP_045605; Note=No experimental confirmation available.; 


uniprotID: Q9NQX3
geneSymbol: GPHN
reactome: R-HSA-947581;
pdb: 1JLJ;
length: 736
go: ENSG00000171723;
drug: DB01942;DB03766;
snps: rs121908539 rs397518420
name:
Gephyrin [Includes: Molybdopterin adenylyltransferase (MPT adenylyltransferase) (EC 2.7.7.75) (Domain G); Molybdopterin molybdenumtransferase (MPT Mo-transferase) (EC 2.10.1.1) (Domain E)]

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite [GO:0030425]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; postsynaptic specialization [GO:0099572]; postsynaptic specialization membrane [GO:0099634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; molybdopterin adenylyltransferase activity [GO:0061598]; molybdopterin cofactor binding [GO:0043546]; molybdopterin molybdotransferase activity [GO:0061599]; nitrate reductase activity [GO:0008940]; establishment of synaptic specificity at neuromuscular junction [GO:0007529]; gamma-aminobutyric acid receptor clustering [GO:0097112]; glycine receptor clustering [GO:0072579]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdenum incorporation into molybdenum-molybdopterin complex [GO:0018315]; molybdopterin cofactor biosynthetic process [GO:0032324]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; response to metal ion [GO:0010038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQX3-1; Sequence=Displayed; Name=2; IsoId=Q9NQX3-2; Sequence=VSP_021769; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250|UniProtKB:Q03555}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:26613940}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q03555}; Cytoplasmic side {ECO:0000250|UniProtKB:Q03555}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q03555}. Cell membrane {ECO:0000250|UniProtKB:Q03555}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q03555}; Cytoplasmic side {ECO:0000250|UniProtKB:Q03555}. Cell projection, dendrite {ECO:0000269|PubMed:26613940}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8BUV3}. Note=Cytoplasmic face of glycinergic postsynaptic membranes. {ECO:0000250|UniProtKB:Q03555}.


uniprotID: P52306
geneSymbol: RAP1GDS1
pdb: 5XGC;5ZHX;
length: 607
go: ENSG00000138698;
snps: rs17849535 rs34392334
name:
Rap1 GTPase-GDP dissociation stimulator 1 (Exchange factor smgGDS) (SMG GDS protein) (SMG P21 stimulatory GDP/GTP exchange protein)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; GTPase activator activity [GO:0005096]; myosin filament assembly [GO:0031034]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; positive regulation of GTPase activity [GO:0043547]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; vascular smooth muscle contraction [GO:0014829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P52306-1; Sequence=Displayed; Name=2; IsoId=P52306-2; Sequence=VSP_001658; Name=3; IsoId=P52306-3; Sequence=VSP_043660, VSP_001658; Note=No experimental confirmation available.; Name=4; IsoId=P52306-4; Sequence=VSP_043660, VSP_046214; Note=No experimental confirmation available.; Name=5; IsoId=P52306-5; Sequence=VSP_043660; Name=6; IsoId=P52306-6; Sequence=VSP_043660, VSP_047041; Note=No experimental confirmation available.; 


uniprotID: Q9H1K4
geneSymbol: SLC25A18
reactome: R-HSA-428643;
length: 315
go: ENSG00000182902;
drug: DB00142;
name:
Mitochondrial glutamate carrier 2 (GC-2) (Glutamate/H(+) symporter 2) (Solute carrier family 25 member 18)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; amino acid:proton symporter activity [GO:0005280]; L-aspartate transmembrane transporter activity [GO:0015183]; L-glutamate transmembrane transporter activity [GO:0005313]; aspartate transmembrane transport [GO:0015810]; ion transport [GO:0006811]; L-glutamate transmembrane transport [GO:0015813]; malate-aspartate shuttle [GO:0043490]


uniprotID: Q92847
geneSymbol: GHSR
reactome: R-HSA-375276;R-HSA-416476;
length: 366
go: ENSG00000121853;
drug: DB05657;
snps: rs2232165 rs121917883 rs199588904
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Growth hormone secretagogue receptor type 1 (GHS-R) (GH-releasing peptide receptor) (GHRP) (Ghrelin receptor)

sequence:

opentargets:
cell surface [GO:0009986]; glutamatergic synapse [GO:0098978]; integral component of synaptic membrane [GO:0099699]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; Schaffer collateral - CA1 synapse [GO:0098685]; G protein-coupled receptor activity [GO:0004930]; growth hormone secretagogue receptor activity [GO:0001616]; growth hormone-releasing hormone receptor activity [GO:0016520]; peptide hormone binding [GO:0017046]; actin polymerization or depolymerization [GO:0008154]; adult feeding behavior [GO:0008343]; cellular response to insulin stimulus [GO:0032869]; cellular response to insulin-like growth factor stimulus [GO:1990314]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to thyroid hormone stimulus [GO:0097067]; decidualization [GO:0046697]; G protein-coupled receptor signaling pathway [GO:0007186]; ghrelin secretion [GO:0036321]; growth hormone secretion [GO:0030252]; hormone-mediated signaling pathway [GO:0009755]; learning or memory [GO:0007611]; negative regulation of appetite [GO:0032099]; negative regulation of inflammatory response [GO:0050728]; negative regulation of insulin secretion [GO:0046676]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of interleukin-6 biosynthetic process [GO:0045409]; negative regulation of locomotion involved in locomotory behavior [GO:0090327]; negative regulation of macrophage apoptotic process [GO:2000110]; negative regulation of norepinephrine secretion [GO:0010700]; negative regulation of tumor necrosis factor biosynthetic process [GO:0042536]; negative regulation of tumor necrosis factor secretion [GO:1904468]; positive regulation of appetite [GO:0032100]; positive regulation of eating behavior [GO:1904000]; positive regulation of fatty acid metabolic process [GO:0045923]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of small intestinal transit [GO:0120058]; positive regulation of small intestine smooth muscle contraction [GO:1904349]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; regulation of gastric motility [GO:1905333]; regulation of growth hormone secretion [GO:0060123]; regulation of hindgut contraction [GO:0043134]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]; regulation of postsynapse organization [GO:0099175]; regulation of synapse assembly [GO:0051963]; regulation of transmission of nerve impulse [GO:0051969]; response to dexamethasone [GO:0071548]; response to estradiol [GO:0032355]; response to follicle-stimulating hormone [GO:0032354]; response to food [GO:0032094]; response to growth hormone [GO:0060416]; response to hormone [GO:0009725]; response to monosodium glutamate [GO:1904008]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1A; IsoId=Q92847-1; Sequence=Displayed; Name=1B; IsoId=Q92847-2; Sequence=VSP_001916, VSP_001917; 


uniprotID: P17483
geneSymbol: HOXB4
reactome: R-HSA-5617472;
name: Homeobox protein Hox-B4 (Homeobox protein Hox-2.6) (Homeobox protein Hox-2F)
length: 251
go: ENSG00000182742;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
centrosome [GO:0005813]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; bone marrow development [GO:0048539]; cell proliferation [GO:0008283]; definitive hemopoiesis [GO:0060216]; embryonic skeletal system morphogenesis [GO:0048704]; hematopoietic stem cell differentiation [GO:0060218]; morphogenesis of an epithelial sheet [GO:0002011]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of stem cell differentiation [GO:2000738]; positive regulation of transcription by RNA polymerase II [GO:0045944]; skeletal system development [GO:0001501]; somatic stem cell division [GO:0048103]; spleen development [GO:0048536]


uniprotID: P17509
geneSymbol: HOXB6
length: 224
go: ENSG00000108511;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Homeobox protein Hox-B6 (Homeobox protein Hox-2.2) (Homeobox protein Hox-2B) (Homeobox protein Hu-2)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; erythrocyte homeostasis [GO:0034101]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17509-1; Sequence=Displayed; Name=2; Synonyms=Homeobox-less; IsoId=P17509-2; Sequence=VSP_002388, VSP_002389; 


uniprotID: P31276
geneSymbol: HOXC13
name: Homeobox protein Hox-C13 (Homeobox protein Hox-3G)
length: 330
go: ENSG00000123364;
snps: rs1867298 rs1383255506
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; anterior/posterior pattern specification [GO:0009952]; hair follicle development [GO:0001942]; nail development [GO:0035878]; tongue morphogenesis [GO:0043587]


uniprotID: P09630
geneSymbol: HOXC6
name: Homeobox protein Hox-C6 (Homeobox protein CP25) (Homeobox protein HHO.C8) (Homeobox protein Hox-3C)
length: 235
go: ENSG00000197757;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system development [GO:0048706]; multicellular organism development [GO:0007275]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09630-1; Sequence=Displayed; Name=2; IsoId=P09630-2; Sequence=VSP_002392; 


uniprotID: P35453
geneSymbol: HOXD13
name: Homeobox protein Hox-D13 (Homeobox protein Hox-4I)
length: 343
go: ENSG00000128714;
snps: rs35290213 rs28933082 rs879255265 rs28933082 rs28928892 rs28928891 rs875989842 rs104893635
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:24789103}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; 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]; enhancer sequence-specific DNA binding [GO:0001158]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anterior/posterior pattern specification [GO:0009952]; branch elongation of an epithelium [GO:0060602]; embryonic digit morphogenesis [GO:0042733]; embryonic hindgut morphogenesis [GO:0048619]; male genitalia development [GO:0030539]; morphogenesis of an epithelial fold [GO:0060571]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis [GO:0060527]; regulation of branching involved in prostate gland morphogenesis [GO:0060687]; regulation of cell proliferation [GO:0042127]; regulation of transcription, DNA-templated [GO:0006355]; response to testosterone [GO:0033574]; skeletal system development [GO:0001501]; transcription by RNA polymerase II [GO:0006366]


uniprotID: P52789
geneSymbol: HK2
reactome: R-HSA-70171;
pdb: 2NZT;5HEX;5HFU;5HG1;
name: Hexokinase-2 (EC 2.7.1.1) (Hexokinase type II) (HK II) (Muscle form hexokinase)
length: 917
go: ENSG00000159399;
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; plasma membrane [GO:0005886]; sarcoplasmic reticulum [GO:0016529]; ATP binding [GO:0005524]; fructokinase activity [GO:0008865]; glucokinase activity [GO:0004340]; glucose binding [GO:0005536]; hexokinase activity [GO:0004396]; mannokinase activity [GO:0019158]; apoptotic mitochondrial changes [GO:0008637]; canonical glycolysis [GO:0061621]; cellular glucose homeostasis [GO:0001678]; cellular response to leukemia inhibitory factor [GO:1990830]; establishment of protein localization to mitochondrion [GO:0072655]; glycolytic process [GO:0006096]; lactation [GO:0007595]; maintenance of protein location in mitochondrion [GO:0072656]; negative regulation of mitochondrial membrane permeability [GO:0035795]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; positive regulation of angiogenesis [GO:0045766]; positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization [GO:1904925]; regulation of glucose import [GO:0046324]; response to hypoxia [GO:0001666]; response to ischemia [GO:0002931]

snps:
rs2229621 rs28363006 rs28363015 rs28363016 rs61748096 rs28363029 rs145124653 rs185927605 rs28363057 rs2229629 rs28363065 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding. {ECO:0000250}.


uniprotID: Q8NBF1
geneSymbol: GLIS1
name: Zinc finger protein GLIS1 (GLI-similar 1)
length: 620
go: ENSG00000174332;
snps: rs4307514 rs34961060 rs35227000
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q8NEA6
geneSymbol: GLIS3
name: Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515)
length: 775
go: ENSG00000107249;
snps: rs806052 rs6415788 rs10973986
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NEA6-1; Sequence=Displayed; Name=2; IsoId=Q8NEA6-2; Sequence=VSP_038299; 


uniprotID: P52790
geneSymbol: HK3
reactome: R-HSA-6798695;R-HSA-70171;
pdb: 3HM8;
name: Hexokinase-3 (EC 2.7.1.1) (Hexokinase type III) (HK III)
length: 923
go: ENSG00000160883;
snps: rs35610191 rs376532514 rs755546220
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; fructokinase activity [GO:0008865]; glucokinase activity [GO:0004340]; glucose binding [GO:0005536]; hexokinase activity [GO:0004396]; mannokinase activity [GO:0019158]; canonical glycolysis [GO:0061621]; cellular glucose homeostasis [GO:0001678]; glycolytic process [GO:0006096]; neutrophil degranulation [GO:0043312]


uniprotID: Q92819
geneSymbol: HAS2
reactome: R-HSA-2142850;
length: 552
go: ENSG00000170961;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Hyaluronan synthase 2 (EC 2.4.1.212) (Hyaluronate synthase 2) (Hyaluronic acid synthase 2) (HA synthase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; hyaluronan synthase activity [GO:0050501]; identical protein binding [GO:0042802]; atrioventricular canal development [GO:0036302]; bone morphogenesis [GO:0060349]; cellular response to fluid shear stress [GO:0071498]; cellular response to interleukin-1 [GO:0071347]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cellular response to tumor necrosis factor [GO:0071356]; endocardial cushion to mesenchymal transition [GO:0090500]; estrous cycle [GO:0044849]; extracellular matrix assembly [GO:0085029]; extracellular polysaccharide biosynthetic process [GO:0045226]; hyaluronan biosynthetic process [GO:0030213]; kidney development [GO:0001822]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of hyaluronan biosynthetic process [GO:1900127]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of monocyte aggregation [GO:1900625]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of urine volume [GO:0035810]; regulation of extracellular matrix assembly [GO:1901201]; renal water absorption [GO:0070295]; vasculogenesis [GO:0001570]


uniprotID: Q5T013
geneSymbol: HYI
name: Putative hydroxypyruvate isomerase (EC 5.3.1.22) (Endothelial cell apoptosis protein E-CE1)
length: 277
go: ENSG00000178922;
snps: rs17850049
sequence:

opentargets:
hydroxypyruvate isomerase activity [GO:0008903]; racemase and epimerase activity, acting on carbohydrates and derivatives [GO:0016857]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T013-1; Sequence=Displayed; Name=2; IsoId=Q5T013-2; Sequence=VSP_025986, VSP_025987; Name=3; IsoId=Q5T013-3; Sequence=VSP_025987; Name=4; IsoId=Q5T013-4; Sequence=VSP_025986; 


uniprotID: A2RU49
geneSymbol: HYKK
reactome: R-HSA-71064;
length: 373
go: ENSG00000188266;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Hydroxylysine kinase (5-hydroxy-L-lysine kinase) (EC 2.7.1.81) (Aminoglycoside phosphotransferase domain-containing protein 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; hydroxylysine kinase activity [GO:0047992]; lysine catabolic process [GO:0006554]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A2RU49-1; Sequence=Displayed; Name=2; IsoId=A2RU49-2; Sequence=VSP_032517, VSP_032518; Note=No experimental confirmation available.; Name=3; IsoId=A2RU49-3; Sequence=VSP_032520; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q6ZVW7
geneSymbol: IL17REL
name: Putative interleukin-17 receptor E-like (IL-17 receptor E-like) (IL-17RE-like)
length: 336
go: ENSG00000188263;
opentargets: interleukin-17 receptor activity [GO:0030368]
snps: rs9617090 rs5771069
sequence:


uniprotID: Q8NFR9
geneSymbol: IL17RE
reactome: R-HSA-448424;
name: Interleukin-17 receptor E (IL-17 receptor E) (IL-17RE)
length: 667
go: ENSG00000163701;
snps: rs7356031 rs9870003 rs7647642
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; interleukin-17 receptor activity [GO:0030368]; inflammatory response [GO:0006954]; interleukin-17-mediated signaling pathway [GO:0097400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NFR9-1; Sequence=Displayed; Name=2; IsoId=Q8NFR9-2; Sequence=VSP_029190; Name=3; IsoId=Q8NFR9-3; Sequence=VSP_029193, VSP_029196; Name=4; IsoId=Q8NFR9-4; Sequence=VSP_029190, VSP_029194, VSP_029195; Name=5; IsoId=Q8NFR9-5; Sequence=VSP_029191, VSP_029192; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000305}.


uniprotID: Q13751
geneSymbol: LAMB3
reactome: R-HSA-1474228;R-HSA-2022090;R-HSA-2214320;R-HSA-3000157;R-HSA-3000171;R-HSA-446107;R-HSA-8874081;
length: 1172
go: ENSG00000196878;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
name:
Laminin subunit beta-3 (Epiligrin subunit bata) (Kalinin B1 chain) (Kalinin subunit beta) (Laminin B1k chain) (Laminin-5 subunit beta) (Nicein subunit beta)

sequence:

opentargets:
extracellular region [GO:0005576]; laminin-5 complex [GO:0005610]; protein-containing complex binding [GO:0044877]; structural molecule activity [GO:0005198]; brown fat cell differentiation [GO:0050873]; cell adhesion [GO:0007155]; endodermal cell differentiation [GO:0035987]; epidermis development [GO:0008544]; extracellular matrix organization [GO:0030198]; hemidesmosome assembly [GO:0031581]

snps:
rs2235542 rs121912486 rs121912487 rs121912482 rs12091253 rs2229468 rs200895463 rs2076349 rs201223111 rs2229466 rs12748250 rs2076222 rs2229467 


uniprotID: A8MUM7
geneSymbol: LGALS16
name: Galectin-16
length: 142
snps: rs1860134
sequence:
MSFLTVPYKLPVSLSVGSCVIIKGTLIDSSINEPQLQVDFYTEMNEDSEIAFHLRVHLGRRVVMNSREFGIWMLEENLHYVPFEDGKPFDLRIYVCLNEYEVKVNGEYIYAFVHRIPPSYVKMIQVWRDVSLDSVLVNNGRR

opentargets:
lactose binding [GO:0030395]; apoptotic process [GO:0006915]; positive regulation of T cell apoptotic process [GO:0070234]


uniprotID: Q8WVC0
geneSymbol: LEO1
reactome: R-HSA-112382;R-HSA-201722;R-HSA-674695;R-HSA-75955;R-HSA-8866654;
pdb: 4M6T;6GMH;
name: RNA polymerase-associated protein LEO1 (Replicative senescence down-regulated leo1-like protein)
length: 666
go: ENSG00000166477;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15791002}.
sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; centrosome [GO:0005813]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II C-terminal domain phosphoserine binding [GO:1990269]; beta-catenin-TCF complex assembly [GO:1904837]; endodermal cell fate commitment [GO:0001711]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; mRNA polyadenylation [GO:0006378]; negative regulation of myeloid cell differentiation [GO:0045638]; positive regulation of mRNA 3'-end processing [GO:0031442]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; protein ubiquitination [GO:0016567]; stem cell population maintenance [GO:0019827]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVC0-1; Sequence=Displayed; Name=2; IsoId=Q8WVC0-2; Sequence=VSP_020051; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q6DKI2
geneSymbol: LGALS9C
name: Galectin-9C (Gal-9C) (Galectin-9-like protein B)
length: 356
go: ENSG00000171916;
opentargets: cytosol [GO:0005829]; carbohydrate binding [GO:0030246]
snps: rs3907319
sequence:


uniprotID: O43312
geneSymbol: MTSS1
pdb: 2D1K;
name: Metastasis suppressor protein 1 (Metastasis suppressor YGL-1) (Missing in metastasis protein)
length: 755
go: ENSG00000170873;
snps: rs2303956 rs3829037
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; endocytic vesicle [GO:0030139]; ruffle [GO:0001726]; actin monomer binding [GO:0003785]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; actin cytoskeleton organization [GO:0030036]; cell adhesion [GO:0007155]; cellular response to fluid shear stress [GO:0071498]; epithelial cell proliferation involved in renal tubule morphogenesis [GO:2001013]; glomerulus morphogenesis [GO:0072102]; microspike assembly [GO:0030035]; negative regulation of epithelial cell proliferation [GO:0050680]; nephron tubule epithelial cell differentiation [GO:0072160]; plasma membrane organization [GO:0007009]; renal tubule morphogenesis [GO:0061333]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43312-1; Sequence=Displayed; Name=2; IsoId=O43312-2; Sequence=VSP_007420, VSP_007421; Note=No experimental confirmation available.; Name=3; IsoId=O43312-4; Sequence=VSP_016216; Note=No experimental confirmation available.; Name=4; IsoId=O43312-5; Sequence=VSP_054702; 


uniprotID: Q765P7
geneSymbol: MTSS1L
name: MTSS1-like protein (Actin-bundling with BAIAP2 homology protein 1) (ABBA-1)
length: 747
go: ENSG00000132613;
sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; lamellipodium [GO:0030027]; ruffle membrane [GO:0032587]; actin monomer binding [GO:0003785]; GTPase activator activity [GO:0005096]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; Rac GTPase binding [GO:0048365]; activation of GTPase activity [GO:0090630]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; lamellipodium organization [GO:0097581]; plasma membrane organization [GO:0007009]; ruffle assembly [GO:0097178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q765P7-1; Sequence=Displayed; Name=2; IsoId=Q765P7-2; Sequence=VSP_031513, VSP_031514, VSP_031515; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20875796}. Cell projection, ruffle {ECO:0000269|PubMed:20875796}. Note=Colocalizes with RAC1 within membrane ruffles. {ECO:0000269|PubMed:20875796}.


uniprotID: Q9ULD2
geneSymbol: MTUS1
length: 1270
go: ENSG00000129422;
name:
Microtubule-associated tumor suppressor 1 (AT2 receptor-binding protein) (Angiotensin-II type 2 receptor-interacting protein) (Mitochondrial tumor suppressor 1)

sequence:

opentargets:
extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spindle [GO:0005819]; microtubule binding [GO:0008017]; regulation of macrophage chemotaxis [GO:0010758]

snps:
rs61733703 rs3739407 rs141609607 rs61733694 rs17690844 rs209569 rs187103704 rs61748836 rs17853231 rs61733705 rs567116808 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=ATIP3a; IsoId=Q9ULD2-1; Sequence=Displayed; Name=2; Synonyms=ATIP3b; IsoId=Q9ULD2-2; Sequence=VSP_028274; Name=3; Synonyms=ATIP1; IsoId=Q9ULD2-3; Sequence=VSP_028271, VSP_028277; Name=4; IsoId=Q9ULD2-4; Sequence=VSP_028270, VSP_028278; Name=5; Synonyms=ATIP2; IsoId=Q9ULD2-5; Sequence=VSP_028275, VSP_028276; Note=Expressed at very low levels in most tissues.; Name=6; Synonyms=ATIP4; IsoId=Q9ULD2-6; Sequence=VSP_028272, VSP_028273; Name=7; IsoId=Q9ULD2-7; Sequence=VSP_044849; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10697957, ECO:0000269|PubMed:12692079, ECO:0000269|PubMed:19794912}. Golgi apparatus {ECO:0000250}. Cell membrane {ECO:0000250}. Nucleus {ECO:0000250}. Note=In neurons, translocates into the nucleus after treatment with angiotensin-II. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes with the mitotic spindle during mitosis and with the intercellular bridge during cytokinesis.


uniprotID: Q9UKN1
geneSymbol: MUC12
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-12 (MUC-12) (Mucin-11) (MUC-11)
length: 5478
go: ENSG00000205277;
snps: rs11766125
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; O-glycan processing [GO:0016266]; regulation of cell growth [GO:0001558]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKN1-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9UKN1-2; Sequence=VSP_056721; Note=No experimental confirmation available.; 


uniprotID: Q8N387
geneSymbol: MUC15
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-15 (MUC-15)
length: 334
go: ENSG00000169550;
snps: rs293979 rs2292290 rs15783
sequence:

opentargets:
extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MUC15; IsoId=Q8N387-1; Sequence=Displayed; Name=2; Synonyms=MUC15/S; IsoId=Q8N387-2; Sequence=VSP_010825; 


uniprotID: P43121
geneSymbol: MCAM
length: 646
go: ENSG00000076706;
snps: rs34587557
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Cell surface glycoprotein MUC18 (Cell surface glycoprotein P1H12) (Melanoma cell adhesion molecule) (Melanoma-associated antigen A32) (Melanoma-associated antigen MUC18) (S-endo 1 endothelial-associated antigen) (CD antigen CD146)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; anatomical structure morphogenesis [GO:0009653]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; glomerular filtration [GO:0003094]; positive regulation of cell migration [GO:0030335]; vascular wound healing [GO:0061042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43121-1; Sequence=Displayed; Name=2; IsoId=P43121-2; Sequence=VSP_016938, VSP_016939; Note=No experimental confirmation available.; 


uniprotID: Q7Z5P9
geneSymbol: MUC19
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-19 (MUC-19)
length: 8384
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

snps:
rs7955308 rs11564170 rs7958987 rs17467284 rs11564245 rs10506156 rs28365246 rs11564125 rs12317988 rs11176635 rs4768261 rs7966110 rs4768264 rs7312154 rs12369002 rs11564141 rs11564109 rs11176666 rs10784621 rs17128169 rs17128233 rs2933353 rs7956459 rs1492333 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z5P9-1; Sequence=Displayed; Name=2; IsoId=Q7Z5P9-2; Sequence=VSP_034521, VSP_034522; Note=No experimental confirmation available.; 


uniprotID: Q99102
geneSymbol: MUC4
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
length: 2169
go: ENSG00000145113;
snps: rs2259292 rs3107764 rs2293232 rs2246901 rs3749331 rs2259292 rs2293232 rs2246901
name:
Mucin-4 (MUC-4) (Ascites sialoglycoprotein) (ASGP) (Pancreatic adenocarcinoma mucin) (Testis mucin) (Tracheobronchial mucin) [Cleaved into: Mucin-4 alpha chain (Ascites sialoglycoprotein 1) (ASGP-1); Mucin-4 beta chain (Ascites sialoglycoprotein 2) (ASGP-2)]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; ErbB-2 class receptor binding [GO:0005176]; extracellular matrix constituent, lubricant activity [GO:0030197]; cell-matrix adhesion [GO:0007160]; maintenance of gastrointestinal epithelium [GO:0030277]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=14;  Comment=Additional isoforms exist.; Name=1; IsoId=Q99102-1; Sequence=Displayed; Name=2; Synonyms=Sv12, Sv13; IsoId=Q99102-2; Sequence=VSP_022658, VSP_022659; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; Synonyms=Sv20; IsoId=Q99102-3; Sequence=VSP_022674, VSP_022675; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=Sv18, Sv19; IsoId=Q99102-5; Sequence=VSP_022661, VSP_022669, VSP_022670; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=7; Synonyms=Sv16; IsoId=Q99102-7; Sequence=VSP_022656, VSP_022665; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=8; Synonyms=Sv15; IsoId=Q99102-8; Sequence=VSP_022657, VSP_022664; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=9; Synonyms=Sv11; IsoId=Q99102-9; Sequence=VSP_022652, VSP_022655; Note=Dubious isoform produced through aberrant splice sites.; Name=10; Synonyms=Sv3, Sv17; IsoId=Q99102-10; Sequence=VSP_022661; Name=11; Synonyms=Sv2; IsoId=Q99102-11; Sequence=VSP_022653, VSP_022663; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=12; Synonyms=SvX; IsoId=Q99102-12; Sequence=VSP_022650; Note=May be preferentially expressed in tumor tissues.; Name=13; Synonyms=SvY; IsoId=Q99102-13; Sequence=VSP_022651; Note=May be preferentially expressed in tumor tissues.; Name=15; Synonyms=Sv1; IsoId=Q99102-15; Sequence=VSP_022654, VSP_022662; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=16; Synonyms=Sv6; IsoId=Q99102-16; Sequence=VSP_022671, VSP_022673; Note=Dubious isoform produced through aberrant splice sites.; Name=17; Synonyms=Sv8; IsoId=Q99102-17; Sequence=VSP_022672; Note=Dubious isoform produced through aberrant splice sites.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:12102554}. Note=Isoforms lacking the Cys-rich region, EGF-like domains and transmembrane region are secreted. Secretion occurs by splicing or proteolytic processing.; SUBCELLULAR LOCATION: Mucin-4 beta chain: Cell membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Mucin-4 alpha chain: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass membrane protein.; SUBCELLULAR LOCATION: Isoform 11: Secreted.; SUBCELLULAR LOCATION: Isoform 15: Secreted.; SUBCELLULAR LOCATION: Isoform 17: Cell membrane; Single-pass membrane protein.


uniprotID: P98088
geneSymbol: MUC5AC
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
pdb: 5AJN;5AJO;5AJP;
length: 5654
go: ENSG00000215182;
snps: rs1132436
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14718370}.
name:
Mucin-5AC (MUC-5AC) (Gastric mucin) (Lewis B blood group antigen) (LeB) (Major airway glycoprotein) (Mucin-5 subtype AC, tracheobronchial) (Tracheobronchial mucin) (TBM)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; mucus layer [GO:0070701]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; O-glycan processing [GO:0016266]; phosphatidylinositol-mediated signaling [GO:0048015]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]


uniprotID: Q9HC84
geneSymbol: MUC5B
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
length: 5762
go: ENSG00000117983;
location: SUBCELLULAR LOCATION: Secreted.
name:
Mucin-5B (MUC-5B) (Cervical mucin) (High molecular weight salivary mucin MG1) (Mucin-5 subtype B, tracheobronchial) (Sublingual gland mucin)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

snps:
rs2672785 rs2075853 rs12363494 rs10835639 rs1541314 rs2943510 rs34739266 rs2943531 rs2943502 rs4963031 rs3965632 rs60787297 rs55813014 rs2943531 rs2943529 rs201948297 rs2943517 rs2943516 rs2943512 rs2943511 rs3021155 rs3021156 rs2672788 


uniprotID: Q9ULC0
geneSymbol: EMCN
name: Endomucin (Endomucin-2) (Gastric cancer antigen Ga34) (Mucin-14) (MUC-14)
length: 261
go: ENSG00000164035;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULC0-1; Sequence=Displayed; Name=2; IsoId=Q9ULC0-2; Sequence=VSP_010826; Name=3; IsoId=Q9ULC0-3; Sequence=VSP_043264; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Membrane; Single-pass type I membrane protein. Note=Consistently localized to the plasma membrane and less abundantly to Golgi-like perinuclear stacks.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q96DR8
geneSymbol: MUCL1
reactome: R-HSA-5083625;R-HSA-5083632;R-HSA-5083636;R-HSA-5621480;R-HSA-913709;R-HSA-977068;
name: Mucin-like protein 1 (Protein BS106) (Small breast epithelial mucin)
sequence: MKFLAVLVLLGVSIFLVSAQNPTTAAPADTYPATGPADDEAPDAETTAAATTATTAAPTTATTAASTTARKDIPVLPKWVGDLPNGRVCP
length: 90
go: ENSG00000172551;
opentargets:
extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; plasma membrane [GO:0005886]; O-glycan processing [GO:0016266]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:15880534}. Membrane {ECO:0000305|PubMed:15880534}.


uniprotID: Q3MIW9
geneSymbol: MUCL3
name: Mucin-like protein 3 (Diffuse panbronchiolitis critical region protein 1)
length: 517
go: ENSG00000168631;
opentargets: cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs11970154 rs3132580 rs2240804
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3MIW9-1; Sequence=Displayed; Name=2; IsoId=Q3MIW9-2; Sequence=VSP_031268, VSP_031269; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29242154}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:29242154}.


uniprotID: O60711
geneSymbol: LPXN
pdb: 1X3H;4XEF;4XEK;4XEV;
name: Leupaxin
length: 386
go: ENSG00000110031;
snps: rs12271558
sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; podosome [GO:0002102]; metal ion binding [GO:0046872]; transcription coregulator activity [GO:0003712]; cell adhesion [GO:0007155]; negative regulation of B cell receptor signaling pathway [GO:0050859]; negative regulation of cell adhesion [GO:0007162]; protein-containing complex assembly [GO:0065003]; regulation of cell adhesion mediated by integrin [GO:0033628]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60711-1; Sequence=Displayed; Name=2; IsoId=O60711-2; Sequence=VSP_042655; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, focal adhesion. Nucleus. Cytoplasm, perinuclear region {ECO:0000250}. Cell projection, podosome. Cell membrane. Note=Shuttles between the cytoplasm and nucleus. Recruited to the cell membrane following B-cell antigen receptor (BCR) cross-linking in B-cells. Enhanced focal adhesion kinase activity (PTK2/FAK) attenuates its nuclear accumulation and limits its ability to enhance serum response factor (SRF)-dependent gene transcription. Targeting to focal adhesions is essential for its tyrosine phosphorylation in response to bombesin.


uniprotID: A6NHZ5
geneSymbol: LRRC14B
name: Leucine-rich repeat-containing protein 14B
length: 514
go: ENSG00000185028;
opentargets: cytoplasm [GO:0005737]
sequence:


uniprotID: Q96QE4
geneSymbol: LRRC37B
name: Leucine-rich repeat-containing protein 37B (C66 SLIT-like testicular protein)
length: 947
go: ENSG00000185158;
opentargets: integral component of membrane [GO:0016021]
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=Q96QE4-1; Sequence=Displayed; Name=2; IsoId=Q96QE4-2; Sequence=VSP_054513; Note=No experimental confirmation available.; 


uniprotID: Q6ZQY2
geneSymbol: LRRC74B
name: Leucine-rich repeat-containing protein 74B
length: 392
go: ENSG00000187905;
snps: rs12170538 rs9620774
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZQY2-1; Sequence=Displayed; Name=2; IsoId=Q6ZQY2-2; Sequence=VSP_031321; 


uniprotID: Q9H756
geneSymbol: LRRC19
name: Leucine-rich repeat-containing protein 19
length: 370
go: ENSG00000184434;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q2VPJ9
geneSymbol: LRRC75B
name: Leucine-rich repeat-containing protein 75B (Leucine-rich repeat-containing protein FAM211B)
length: 315
go: ENSG00000178026;
opentargets: cytoplasm [GO:0005737]
snps: rs743370
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2VPJ9-1; Sequence=Displayed; Name=2; IsoId=Q2VPJ9-2; Sequence=VSP_021172, VSP_021173; Note=No experimental confirmation available.; 


uniprotID: Q50LG9
geneSymbol: LRRC24
name: Leucine-rich repeat-containing protein 24
length: 513
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; positive regulation of synapse assembly [GO:0051965]


uniprotID: Q86YD5
geneSymbol: LDLRAD3
length: 345
go: ENSG00000179241;
name:
Low-density lipoprotein receptor class A domain-containing protein 3 (LDLR class A domain-containing protein 3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; receptor-mediated endocytosis [GO:0006898]; regulation of protein processing [GO:0070613]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YD5-1; Sequence=Displayed; Name=2; IsoId=Q86YD5-2; Sequence=VSP_056254; 


uniprotID: Q86X40
geneSymbol: LRRC28
name: Leucine-rich repeat-containing protein 28
length: 367
go: ENSG00000168904;
snps: rs11857384
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86X40-1; Sequence=Displayed; Name=2; IsoId=Q86X40-2; Sequence=VSP_022393, VSP_022394; Name=3; IsoId=Q86X40-3; Sequence=VSP_022395; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q86YC3
geneSymbol: NRROS
length: 692
go: ENSG00000174004;
name:
Transforming growth factor beta activator LRRC33 (Leucine-rich repeat-containing protein 33) (Negative regulator of reactive oxygen species)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; transforming growth factor beta binding [GO:0050431]; immune response [GO:0006955]; inflammatory response [GO:0006954]; microglia development [GO:0014005]; sequestering of TGFbeta in extracellular matrix [GO:0035583]; superoxide metabolic process [GO:0006801]; transforming growth factor beta receptor signaling pathway [GO:0007179]; transforming growth factor beta1 activation [GO:0036364]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23545260, ECO:0000269|PubMed:29909984}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8BMT4}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q8IZ02
geneSymbol: LRRC34
name: Leucine-rich repeat-containing protein 34
length: 464
go: ENSG00000171757;
opentargets: cytoplasm [GO:0005737]; nucleolus [GO:0005730]; cell differentiation [GO:0030154]
snps: rs9820986 rs10936600 rs9872760
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZ02-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IZ02-3; Sequence=VSP_059511; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9DAM1}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q9DAM1}. Cytoplasm {ECO:0000250|UniProtKB:Q9DAM1}. Note=As stem cells differentiate, translocates from the nucleolus to the nucleus and then to the cytoplasm. Colocalizes with NPM1 and NCL in the nucleolus. {ECO:0000250|UniProtKB:Q9DAM1}.


uniprotID: Q96CX6
geneSymbol: LRRC58
name: Leucine-rich repeat-containing protein 58
length: 371
go: ENSG00000163428;
sequence:


uniprotID: Q5VT99
geneSymbol: LRRC38
name: Leucine-rich repeat-containing protein 38 (BK channel auxiliary gamma subunit LRRC38)
length: 294
go: ENSG00000162494;
snps: rs2940315 rs3013105
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel activator activity [GO:0099104]; voltage-gated potassium channel activity [GO:0005249]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]


uniprotID: Q9BV99
geneSymbol: LRRC61
name: Leucine-rich repeat-containing protein 61
length: 259
go: ENSG00000127399;
opentargets: cytoplasm [GO:0005737]; outer dynein arm assembly [GO:0036158]
snps: rs3735169
sequence:


uniprotID: Q68CR7
geneSymbol: LRRC66
name: Leucine-rich repeat-containing protein 66
length: 880
go: ENSG00000188993;
opentargets: integral component of membrane [GO:0016021]
snps: rs17081784
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6ZNQ3
geneSymbol: LRRC69
name: Leucine-rich repeat-containing protein 69
length: 347
snps: rs11785003
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZNQ3-1; Sequence=Displayed; Name=2; IsoId=Q6ZNQ3-2; Sequence=VSP_033810; Note=No experimental confirmation available.; 


uniprotID: A6NJI9
geneSymbol: LRRC72
name: Leucine-rich repeat-containing protein 72
length: 287
sequence:


uniprotID: Q96E66
geneSymbol: LRTOMT
name: Leucine-rich repeat-containing protein 51 (Protein LRTOMT1)
length: 192
go: ENSG00000184154;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MNKRDYMNTSVQEPPLDYSFRSIHVIQDLVNEEPRTGLRPLKRSKSGKSLTQSLWLNNNVLNDLRDFNQVASQLLEHPENLAWIDLSFNDLTSIDPVLTTFFNLSVLYLHGNSIQRLGEVNKLAVLPRLRSLTLHGNPMEEEKGYRQYVLCTLSRITTFDFSGVTKADRTTAEVWKRMNIKPKKAWTKQNTL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=A; IsoId=Q96E66-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q96E66-2; Sequence=VSP_036895; Name=3; Synonyms=C; IsoId=Q96E66-3; Sequence=VSP_036896; Name=4; Synonyms=D; IsoId=Q96E66-4; Sequence=VSP_036893; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=E; IsoId=Q96E66-5; Sequence=VSP_036894; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=Q96E66-6; Sequence=VSP_041852; 


uniprotID: A6NCL2
geneSymbol: LRCOL1
name: Leucine-rich colipase-like protein 1
length: 159
go: ENSG00000204583;
sequence:
MAGPGWTLLLLLLLLLLLGSMAGYGPQKKLNLSHKGIGEPCRRHEECQSNCCTINSLAPHTLCTPKTIFLQCLPWRKPNGYRCSHDSECQSSCCVRNNSPQELCTPQSVFLQCVPWRKPNGDFCSSHQECHSQCCIQLREYSPFRCIPRTGILAQCLPL

opentargets:
extracellular region [GO:0005576]; enzyme activator activity [GO:0008047]; digestion [GO:0007586]; lipid catabolic process [GO:0016042]; response to food [GO:0032094]


uniprotID: Q6NSJ5
geneSymbol: LRRC8E
reactome: R-HSA-5223345;
name: Volume-regulated anion channel subunit LRRC8E (Leucine-rich repeat-containing protein 8E)
length: 796
go: ENSG00000171017;
snps: rs3745377 rs2042919 rs2115108 rs36038711
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; ion channel complex [GO:0034702]; plasma membrane [GO:0005886]; volume-sensitive anion channel activity [GO:0005225]; anion transmembrane transport [GO:0098656]; aspartate transmembrane transport [GO:0015810]; cell volume homeostasis [GO:0006884]; cellular response to osmotic stress [GO:0071470]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO:0000269|PubMed:24790029}.


uniprotID: Q9C099
geneSymbol: LRRCC1
length: 1032
go: ENSG00000133739;
snps: rs16913589 rs3736038 rs6985225
name:
Leucine-rich repeat and coiled-coil domain-containing protein 1 (Centrosomal leucine-rich repeat and coiled-coil domain-containing protein)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cell cycle [GO:0007049]; cell division [GO:0051301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C099-1; Sequence=Displayed; Name=2; IsoId=Q9C099-2; Sequence=VSP_033868; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:18728398}. Note=Associates with the centrosome throughout the cell cycle and extensively accumulates during the mitotic phase.


uniprotID: Q96NI6
geneSymbol: LRFN5
pdb: 5XNP;5XNQ;5XWS;5XWT;
name: Leucine-rich repeat and fibronectin type-III domain-containing protein 5
length: 719
go: ENSG00000165379;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]


uniprotID: A6NIV6
geneSymbol: LRRIQ4
name: Leucine-rich repeat and IQ domain-containing protein 4 (Leucine-rich repeat-containing protein 64)
length: 560
snps: rs16854411
sequence:


uniprotID: Q3SXY7
geneSymbol: LRIT3
name: Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3
length: 679
go: ENSG00000183423;
snps: rs4698797 rs376610215 rs764205 rs2347131 rs2347132 rs766899767
sequence:

opentargets:
dendrite [GO:0030425]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; perikaryon [GO:0043204]; regulation of fibroblast growth factor receptor signaling pathway [GO:0040036]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SXY7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q3SXY7-2; Sequence=VSP_029126, VSP_029127; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000269|PubMed:23246293}. Perikaryon {ECO:0000250|UniProtKB:W8DXL4}. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Punctate expression at dendrite tips. {ECO:0000269|PubMed:23246293}.


uniprotID: Q6UXM1
geneSymbol: LRIG3
name: Leucine-rich repeats and immunoglobulin-like domains protein 3 (LIG-3)
length: 1119
go: ENSG00000139263;
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; otolith morphogenesis [GO:0032474]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXM1-1; Sequence=Displayed; Name=2; IsoId=Q6UXM1-2; Sequence=VSP_015097; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Detected in cytoplasmic vesicles when coexpressed with ERBB4. {ECO:0000250}.


uniprotID: Q9H2I8
geneSymbol: LRMDA
name: Leucine-rich melanocyte differentiation-associated protein
length: 198
go: ENSG00000148655;
opentargets: melanocyte differentiation [GO:0030318]
snps: rs35349706
sequence:
MEKYLSLSGNHSSNKRSLEGLSAFRSLEELILDNNQLGDDLVLPGLPRLHTLTLNKNRITDLENLLDHLAEVTPALEYLSLLGNVACPNELVSLEKDEEDYKRYRCFVLYKLPNLKFLDAQKVTRQEREEALVRGVFMKVVKPKASSEDVASSPERHYTPLPSASRELTSHQGVLGKCRYVYYGKNSEGNRFIRDDQL


uniprotID: Q86VZ4
geneSymbol: LRP11
name: Low-density lipoprotein receptor-related protein 11 (LRP-11)
length: 500
go: ENSG00000120256;
snps: rs9322225 rs9478945 rs17854254 rs9478144
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; phosphoprotein binding [GO:0051219]; multicellular organismal response to stress [GO:0033555]; response to cold [GO:0009409]; response to heat [GO:0009408]; response to immobilization stress [GO:0035902]; response to mechanical stimulus [GO:0009612]; response to starvation [GO:0042594]; response to water deprivation [GO:0009414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VZ4-1; Sequence=Displayed; Name=2; IsoId=Q86VZ4-2; Sequence=VSP_017535, VSP_017536; Note=No experimental confirmation available.; 


uniprotID: Q9BTT6
geneSymbol: LRRC1
name: Leucine-rich repeat-containing protein 1 (LANO adapter protein) (LAP and no PDZ protein)
length: 524
go: ENSG00000137269;
opentargets: cytosol [GO:0005829]; membrane [GO:0016020]
snps: rs9349688
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BTT6-1; Sequence=Displayed; Name=2; IsoId=Q9BTT6-2; Sequence=VSP_010912, VSP_010913; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11440998}. Membrane {ECO:0000269|PubMed:11440998}; Peripheral membrane protein {ECO:0000269|PubMed:11440998}. Note=Localized at the basolateral side of epithelial cells.


uniprotID: Q9UK45
geneSymbol: LSM7
reactome: R-HSA-430039;R-HSA-72163;
pdb: 3JCR;5O9Z;
name: U6 snRNA-associated Sm-like protein LSm7
length: 103
go: ENSG00000130332;
sequence:
MADKEKKKKESILDLSKYIDKTIRVKFQGGREASGILKGFDPLLNLVLDGTIEYMRDPDDQYKLTEDTRQLGLVVCRGTSVVLICPQDGMEAIPNPFIQQQDA

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; Lsm1-7-Pat1 complex [GO:1990726]; Lsm2-8 complex [GO:0120115]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U12-type spliceosomal complex [GO:0005689]; U2-type precatalytic spliceosome [GO:0071005]; U2-type prespliceosome [GO:0071004]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; U6 snRNA binding [GO:0017070]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; mRNA splicing, via spliceosome [GO:0000398]

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


uniprotID: O95777
geneSymbol: LSM8
reactome: R-HSA-72163;
pdb: 3JCR;5O9Z;
name: U6 snRNA-associated Sm-like protein LSm8
sequence: MTSALENYINRTVAVITSDGRMIVGTLKGFDQTINLILDESHERVFSSSQGVEQVVLGLYIVRGDNVAVIGEIDEETDSALDLGNIRAEPLNSVAH
length: 96
go: ENSG00000128534;
opentargets:
Lsm2-8 complex [GO:0120115]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; RNA binding [GO:0003723]; U6 snRNA binding [GO:0017070]; mRNA splicing, via spliceosome [GO:0000398]; RNA metabolic process [GO:0016070]

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


uniprotID: Q6P0N0
geneSymbol: MIS18BP1
reactome: R-HSA-606279;
pdb: 1WGX;
name: Mis18-binding protein 1 (Kinetochore-associated protein KNL-2 homolog) (HsKNL-2) (P243)
length: 1132
go: ENSG00000129534;
snps: rs1269008 rs34168608 rs34101857 rs34402741
sequence:

opentargets:
condensed nuclear chromosome kinetochore [GO:0000778]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; cell cycle [GO:0007049]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P0N0-1; Sequence=Displayed; Name=2; IsoId=Q6P0N0-2; Sequence=VSP_014105; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin.


uniprotID: Q16584
geneSymbol: MAP3K11
reactome: R-HSA-5673000;R-HSA-6802946;R-HSA-6802949;R-HSA-6802955;
pdb: 5K26;5K28;6AQB;6CQ7;
length: 847
go: ENSG00000173327;
snps: rs34178129 rs17855912 rs34594252
name:
Mitogen-activated protein kinase kinase kinase 11 (EC 2.7.11.25) (Mixed lineage kinase 3) (Src-homology 3 domain-containing proline-rich kinase)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; membrane [GO:0016020]; microtubule [GO:0005874]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; JUN kinase kinase kinase activity [GO:0004706]; mitogen-activated protein kinase kinase binding [GO:0031434]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; activation of JUN kinase activity [GO:0007257]; activation of MAPK activity [GO:0000187]; cell death [GO:0008219]; cell proliferation [GO:0008283]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; microtubule-based process [GO:0007017]; positive regulation of apoptotic process [GO:0043065]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron apoptotic process [GO:0043525]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16584-1; Sequence=Displayed; Name=2; IsoId=Q16584-2; Sequence=VSP_056183; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12529434}. Note=Location is cell cycle dependent.


uniprotID: Q96PG2
geneSymbol: MS4A10
name: Membrane-spanning 4-domains subfamily A member 10 (CD20 antigen-like 7)
length: 267
go: ENSG00000172689;
opentargets: integral component of membrane [GO:0016021]
snps: rs12419635
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:


uniprotID: Q96JA4
geneSymbol: MS4A14
name: Membrane-spanning 4-domains subfamily A member 14 (Testis development protein NYD-SP21)
length: 679
go: ENSG00000166928;
opentargets: integral component of membrane [GO:0016021]
snps: rs7131283 rs3825020
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96JA4-1; Sequence=Displayed; Name=2; IsoId=Q96JA4-2; Sequence=VSP_031780; Name=3; IsoId=Q96JA4-4; Sequence=VSP_031779, VSP_031781, VSP_031782; Name=4; IsoId=Q96JA4-5; Sequence=VSP_056734; 


uniprotID: Q3C1V0
geneSymbol: MS4A18
name: Membrane-spanning 4-domains subfamily A member 18
length: 323
go: ENSG00000214782;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q96JQ5
geneSymbol: MS4A4A
length: 239
go: ENSG00000110079;
opentargets: integral component of membrane [GO:0016021]
snps: rs10750931 rs6591561 rs4644658
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Membrane-spanning 4-domains subfamily A member 4A (CD20 antigen-like 1) (Four-span transmembrane protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JQ5-1; Sequence=Displayed; Name=2; IsoId=Q96JQ5-2; Sequence=VSP_007380; 


uniprotID: Q96PG1
geneSymbol: MS4A4E
name: Putative membrane-spanning 4-domains subfamily A member 4E
length: 132
go: ENSG00000214787;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:
MTTMQGMEQTTPGAGPDVPQLGNIDVIHSYLCKGLQEKFFKRKPKVLGVVRILIALMSLSMGIIMMCVAFSSYEEHPIFVYVAYTIWGSVMYPYQLQQELEQQKVWNYLKNLSWRIMGSYLCFGERSELKPL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96PG1-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96PG1-2; Sequence=VSP_033858; Name=3; IsoId=Q96PG1-3; Sequence=VSP_033859; Note=No experimental confirmation available.; 


uniprotID: Q96DS6
geneSymbol: MS4A6E
name: Membrane-spanning 4-domains subfamily A member 6E
length: 147
go: ENSG00000166926;
opentargets: integral component of membrane [GO:0016021]
snps: rs2304935 rs2304934 rs2304933
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:
MTSQPISNETIIMLPSNVINFSQAEKPEPTNQGQDSLKKRLQAKVKVIGVHSSLAGSILSALSALVGFILLSVNPAALNPASLQCKLDEKDIPTRLLLSYDYHSPYTMDCHRAKASLAGTLSLMLVSTVLEFCLAVLTAVLQWKQTV


uniprotID: Q9BY19
geneSymbol: MS4A8
length: 250
go: ENSG00000166959;
opentargets: integral component of membrane [GO:0016021]
snps: rs35956659
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Membrane-spanning 4-domains subfamily A member 8 (Four-span transmembrane protein 4) (Membrane-spanning 4-domains subfamily A member 8B)

sequence:


uniprotID: Q92918
geneSymbol: MAP4K1
length: 833
go: ENSG00000104814;
snps: rs55924696 rs34591617 rs56060067 rs12975825
name:
Mitogen-activated protein kinase kinase kinase kinase 1 (EC 2.7.11.1) (Hematopoietic progenitor kinase) (MAPK/ERK kinase kinase kinase 1) (MEK kinase kinase 1) (MEKKK 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; membrane [GO:0016020]; ATP binding [GO:0005524]; MAP kinase kinase kinase kinase activity [GO:0008349]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; activation of MAPKKK activity [GO:0000185]; activation of protein kinase activity [GO:0032147]; cell proliferation [GO:0008283]; cellular response to phorbol 13-acetate 12-myristate [GO:1904628]; peptidyl-serine phosphorylation [GO:0018105]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; 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; IsoId=Q92918-1; Sequence=Displayed; Name=2; IsoId=Q92918-2; Sequence=VSP_040340; 


uniprotID: P33908
geneSymbol: MAN1A1
reactome: R-HSA-6811438;R-HSA-964827;
length: 653
go: ENSG00000111885;
snps: rs35544784
location: SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
name:
Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA (EC 3.2.1.113) (Man(9)-alpha-mannosidase) (Man9-mannosidase) (Mannosidase alpha class 1A member 1) (Processing alpha-1,2-mannosidase IA) (Alpha-1,2-mannosidase IA)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; 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]; mannosidase activity [GO:0015923]; mannosyl-oligosaccharide 1,2-alpha-mannosidase activity [GO:0004571]; Golgi apparatus mannose trimming [GO:1904381]; N-glycan processing [GO:0006491]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P33908-1; Sequence=Displayed; Name=2; IsoId=P33908-2; Sequence=VSP_056372, VSP_056373, VSP_056374; Note=No experimental confirmation available.; 


uniprotID: Q12851
geneSymbol: MAP4K2
length: 820
go: ENSG00000168067;
name:
Mitogen-activated protein kinase kinase kinase kinase 2 (EC 2.7.11.1) (B lymphocyte serine/threonine-protein kinase) (Germinal center kinase) (GC kinase) (MAPK/ERK kinase kinase kinase 2) (MEK kinase kinase 2) (MEKKK 2) (Rab8-interacting protein)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; Golgi membrane [GO:0000139]; ATP binding [GO:0005524]; MAP kinase kinase kinase kinase activity [GO:0008349]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; activation of protein kinase activity [GO:0032147]; immune response [GO:0006955]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; positive regulation of JNK cascade [GO:0046330]; protein phosphorylation [GO:0006468]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]; vesicle targeting [GO:0006903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12851-1; Sequence=Displayed; Name=2; IsoId=Q12851-2; Sequence=VSP_054134; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Basolateral cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q8IVH8
geneSymbol: MAP4K3
pdb: 5J5T;
length: 894
go: ENSG00000011566;
snps: rs35957290 rs56317466
name:
Mitogen-activated protein kinase kinase kinase kinase 3 (EC 2.7.11.1) (Germinal center kinase-related protein kinase) (GLK) (MAPK/ERK kinase kinase kinase 3) (MEK kinase kinase 3) (MEKKK 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; MAP kinase kinase kinase kinase activity [GO:0008349]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; protein phosphorylation [GO:0006468]; response to tumor necrosis factor [GO:0034612]; response to UV [GO:0009411]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000303|PubMed:9275185, ECO:0000305}; IsoId=Q8IVH8-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2 {ECO:0000303|PubMed:9275185, ECO:0000305}; IsoId=Q8IVH8-2; Sequence=VSP_007052; Name=3 {ECO:0000303|PubMed:9275185, ECO:0000305}; IsoId=Q8IVH8-3; Sequence=VSP_007053; Note=No experimental confirmation available.; 


uniprotID: O00754
geneSymbol: MAN2B1
reactome: R-HSA-6798695;R-HSA-8853383;
length: 1011
go: ENSG00000104774;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Lysosomal alpha-mannosidase (Laman) (EC 3.2.1.24) (Lysosomal acid alpha-mannosidase) (Mannosidase alpha class 2B member 1) (Mannosidase alpha-B) [Cleaved into: Lysosomal alpha-mannosidase A peptide; Lysosomal alpha-mannosidase B peptide; Lysosomal alpha-mannosidase C peptide; Lysosomal alpha-mannosidase D peptide; Lysosomal alpha-mannosidase E peptide]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; vacuolar membrane [GO:0005774]; alpha-mannosidase activity [GO:0004559]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; cellular protein modification process [GO:0006464]; mannose metabolic process [GO:0006013]; neutrophil degranulation [GO:0043312]; oligosaccharide catabolic process [GO:0009313]; protein deglycosylation [GO:0006517]

snps:
rs864621975 rs387906261 rs746702002 rs754036398 rs794727484 rs864621976 rs864621977 rs864621978 rs772108001 rs864621979 rs763257568 rs117843968 rs3745650 rs746808159 rs1054486 rs45576136 rs1054487 rs774034389 rs1133330 rs864621980 rs864621992 rs121434333 rs864621981 rs864621982 rs370760999 rs35836657 rs772853856 rs864621983 rs368899357 rs864621984 rs864621984 rs864621985 rs34544747 rs747721968 rs864621986 rs75029862 rs864621993 rs864621987 rs80338680 rs398123456 rs398123456 rs864621994 rs80338681 rs864621988 rs864621989 rs864621990 rs758765126 rs139041112 rs768233248 rs864621991 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00754-1; Sequence=Displayed; Name=2; IsoId=O00754-2; Sequence=VSP_047391; Note=Gene prediction based on EST data.; 


uniprotID: O95819
geneSymbol: MAP4K4
reactome: R-HSA-2559580;
pdb: 4OBO;4OBP;4OBQ;4RVT;4U3Y;4U3Z;4U40;4U41;4U42;4U43;4U44;4U45;4ZK5;4ZP5;5DI1;5J95;5W5Q;
length: 1239
go: ENSG00000071054;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14966141}.
name:
Mitogen-activated protein kinase kinase kinase kinase 4 (EC 2.7.11.1) (HPK/GCK-like kinase HGK) (MAPK/ERK kinase kinase kinase 4) (MEK kinase kinase 4) (MEKKK 4) (Nck-interacting kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; ATP binding [GO:0005524]; creatine kinase activity [GO:0004111]; microtubule binding [GO:0008017]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; negative regulation of neuron projection regeneration [GO:0070571]; neuron projection morphogenesis [GO:0048812]; positive regulation of adherens junction organization [GO:1903393]; positive regulation of ARF protein signal transduction [GO:0032014]; positive regulation of cell migration [GO:0030335]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of GTPase activity [GO:0043547]; positive regulation of keratinocyte migration [GO:0051549]; protein phosphorylation [GO:0006468]; regulation of JNK cascade [GO:0046328]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1 {ECO:0000269|PubMed:9890973}; Synonyms=Tumor-associated; IsoId=O95819-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9890973}; IsoId=O95819-2; Sequence=VSP_007054, VSP_058855, VSP_007057; Name=3 {ECO:0000269|PubMed:9890973}; IsoId=O95819-3; Sequence=VSP_007056, VSP_058855, VSP_007057; Name=4 {ECO:0000269|PubMed:9890973}; Synonyms=HGK-S {ECO:0000269|PubMed:9890973}; IsoId=O95819-4; Sequence=VSP_007054, VSP_007055, VSP_007057, VSP_007058; Name=5 {ECO:0000269|PubMed:9890973}; Synonyms=HGK-L {ECO:0000269|PubMed:9890973}; IsoId=O95819-5; Sequence=VSP_007054, VSP_007055, VSP_007056, VSP_007057, VSP_007058; Name=6; IsoId=O95819-6; Sequence=VSP_007054, VSP_058855, VSP_058856; Note=Gene prediction based on EST data. {ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:18691976}; 


uniprotID: Q9Y4K4
geneSymbol: MAP4K5
length: 846
go: ENSG00000012983;
snps: rs34726242 rs12881869 rs34818002 rs55815015 rs35768475 rs55997280 rs17780143
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9038372}.
name:
Mitogen-activated protein kinase kinase kinase kinase 5 (EC 2.7.11.1) (Kinase homologous to SPS1/STE20) (KHS) (MAPK/ERK kinase kinase kinase 5) (MEK kinase kinase 5) (MEKKK 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; MAP kinase kinase kinase kinase activity [GO:0008349]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; activation of protein kinase activity [GO:0032147]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]


uniprotID: Q8N8E1
geneSymbol: MAPKAPK5-AS1
length: 139
name:
Putative uncharacterized protein encoded by MAPKAPK5-AS1 (MAPKAPK5 antisense RNA 1) (MAPKAPK5 antisense gene protein 1)

sequence:
MALSMSLSSDILSGAPTAGRGGGCSAALSPRGRGSKGLGTRAPGPRGDGQQPPLGTGGDEDPGAGSASAGGSRLAAAAAAEAAAPGDRSLCWAPRGRLLASSPAGEAGSWGRARRGGPRPGAPCKGLAGPPLRPGLARS


uniprotID: Q96T17
geneSymbol: MAP7D2
name: MAP7 domain-containing protein 2
length: 732
go: ENSG00000184368;
opentargets: microtubule cytoskeleton [GO:0015630]; microtubule cytoskeleton organization [GO:0000226]
snps: rs34519770
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96T17-1; Sequence=Displayed; Name=2; IsoId=Q96T17-2; Sequence=VSP_028492; Name=3; IsoId=Q96T17-3; Sequence=VSP_028490, VSP_028491, VSP_028493; Note=No experimental confirmation available.; Name=4; IsoId=Q96T17-4; Sequence=VSP_043337; Note=No experimental confirmation available.; Name=5; IsoId=Q96T17-5; Sequence=VSP_044657, VSP_044658; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: Q9NYL2
geneSymbol: MAP3K20
pdb: 5HES;5X5O;
length: 800
go: ENSG00000091436;
snps: rs6758025 rs34683477 rs863225437 rs3769148 rs7593622 rs56202258 rs35608243 rs55830025
name:
Mitogen-activated protein kinase kinase kinase 20 (EC 2.7.11.25) (Human cervical cancer suppressor gene 4 protein) (HCCS-4) (Leucine zipper- and sterile alpha motif-containing kinase) (MLK-like mitogen-activated protein triple kinase) (Mitogen-activated protein kinase kinase kinase MLT) (Mixed lineage kinase-related kinase) (MLK-related kinase) (MRK) (Sterile alpha motif- and leucine zipper-containing kinase AZK)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; MAP kinase kinase kinase activity [GO:0004709]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; activation of JUN kinase activity [GO:0007257]; activation of MAPKK activity [GO:0000186]; cell cycle arrest [GO:0007050]; cell death [GO:0008219]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cellular response to gamma radiation [GO:0071480]; cytoskeleton organization [GO:0007010]; DNA damage checkpoint [GO:0000077]; embryonic digit morphogenesis [GO:0042733]; limb development [GO:0060173]; mitotic cell cycle checkpoint [GO:0007093]; positive regulation of apoptotic process [GO:0043065]; protein phosphorylation [GO:0006468]; stress-activated MAPK cascade [GO:0051403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11042189}; Synonyms=Alpha; IsoId=Q9NYL2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11042189}; Synonyms=Beta; IsoId=Q9NYL2-2; Sequence=VSP_051743, VSP_051744; Name=3; Synonyms=HCCS-4; IsoId=Q9NYL2-3; Sequence=VSP_051741, VSP_051742; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15684425}. Nucleus {ECO:0000269|PubMed:15684425}. Note=Translocates to the nucleus upon ultraviolet B irradiation. {ECO:0000269|PubMed:15684425}.


uniprotID: Q99759
geneSymbol: MAP3K3
reactome: R-HSA-9020702;
pdb: 2C60;2JRH;2O2V;2PPH;4Y5O;4YL6;
length: 626
go: ENSG00000198909;
snps: rs36109904 rs34042309 rs9910858
name:
Mitogen-activated protein kinase kinase kinase 3 (EC 2.7.11.25) (MAPK/ERK kinase kinase 3) (MEK kinase 3) (MEKK 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; blood vessel development [GO:0001568]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; negative regulation of cellular senescence [GO:2000773]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cell proliferation in bone marrow [GO:0071864]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of p38MAPK cascade [GO:1900745]; protein autophosphorylation [GO:0046777]; 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; IsoId=Q99759-1; Sequence=Displayed; Name=2; IsoId=Q99759-2; Sequence=VSP_035967; 


uniprotID: Q9BQ69
geneSymbol: MACROD1
pdb: 2X47;
length: 325
go: ENSG00000133315;
name:
O-acetyl-ADP-ribose deacetylase MACROD1 (EC 3.2.2.-) (EC 3.5.1.-) (MACRO domain-containing protein 1) (Protein LRP16) ([Protein ADP-ribosylglutamate] hydrolase)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; deacetylase activity [GO:0019213]; hydrolase activity, acting on glycosyl bonds [GO:0016798]; cellular response to DNA damage stimulus [GO:0006974]; protein de-ADP-ribosylation [GO:0051725]; purine nucleoside metabolic process [GO:0042278]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23474712}. Note=Recruited to DNA lesions, probably via mono-APD-ribosylated proteins.


uniprotID: Q9UPN3
geneSymbol: MACF1
pdb: 4Z6G;5VE9;5X57;
length: 7388
go: ENSG00000127603;
snps: rs2296172 rs682351 rs587404 rs668556 rs2296174 rs12068423
name:
Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; ATPase activity [GO:0016887]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; microtubule minus-end binding [GO:0051011]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; Golgi to plasma membrane protein transport [GO:0043001]; intermediate filament cytoskeleton organization [GO:0045104]; positive regulation of axon extension [GO:0045773]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of cell migration [GO:0030334]; regulation of epithelial cell migration [GO:0010632]; regulation of focal adhesion assembly [GO:0051893]; regulation of microtubule-based process [GO:0032886]; Wnt signaling pathway [GO:0016055]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Macf1b; IsoId=Q9UPN3-1; Sequence=Displayed; Name=2; Synonyms=Macf1a; IsoId=Q9UPN3-2; Sequence=VSP_041391, VSP_041393; Name=3; IsoId=Q9UPN3-3; Sequence=VSP_041390, VSP_041391, VSP_041392, VSP_041393; Name=5; IsoId=Q9UPN3-4; Sequence=VSP_041391, VSP_041392; Note=No experimental confirmation available.; Name=4; IsoId=Q9UPN3-5; Sequence=VSP_043626, VSP_041393, VSP_043627; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15265687, ECO:0000269|PubMed:27693509}. Cytoplasm {ECO:0000269|PubMed:15265687}. Golgi apparatus {ECO:0000269|PubMed:15265687}. Cell membrane {ECO:0000269|PubMed:20937854}. Cell projection, ruffle membrane {ECO:0000269|PubMed:20937854}. Note=The phosphorylated form is found in the cytoplasm while the non-phosphorylated form associates with the microtubules (By similarity). Localizes to the tips of microtubules (PubMed:27693509). Associated with the minus-end of microtubules via interaction with CAMSAP3 (PubMed:27693509). APC controls its localization to the cell membrane which is critical for its function in microtubule stabilization (PubMed:20937854). {ECO:0000250|UniProtKB:Q9QXZ0, ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:27693509}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:16076900}. Golgi apparatus {ECO:0000269|PubMed:16076900}. Note=Localizes to the tips of microtubules. {ECO:0000269|PubMed:16076900}.


uniprotID: Q9H063
geneSymbol: MAF1
reactome: R-HSA-8943724;
pdb: 3NR5;
name: Repressor of RNA polymerase III transcription MAF1 homolog
length: 256
go: ENSG00000179632;
snps: rs11546144
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; inhibitory synapse [GO:0060077]; intracellular [GO:0005622]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; GABA receptor binding [GO:0050811]; RNA polymerase III core binding [GO:0000994]; RNA polymerase III type 1 promoter DNA binding [GO:0001030]; RNA polymerase III type 2 promoter DNA binding [GO:0001031]; RNA polymerase III type 3 promoter DNA binding [GO:0001032]; negative regulation of transcription by RNA polymerase III [GO:0016480]


uniprotID: P80192
geneSymbol: MAP3K9
pdb: 3DTC;4UY9;
name: Mitogen-activated protein kinase kinase kinase 9 (EC 2.7.11.25) (Mixed lineage kinase 1)
length: 1104
go: ENSG00000006432;
snps: rs773256562 rs56196343 rs34322726
sequence:

opentargets:
intracellular [GO:0005622]; ATP binding [GO:0005524]; JUN kinase kinase kinase activity [GO:0004706]; MAP kinase kinase activity [GO:0004708]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; apoptotic process [GO:0006915]; MAPK cascade [GO:0000165]; positive regulation of apoptotic process [GO:0043065]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P80192-1; Sequence=Displayed; Name=2; IsoId=P80192-4; Sequence=VSP_013765; 


uniprotID: Q9UBF1
geneSymbol: MAGEC2
length: 373
go: ENSG00000046774;
name:
Melanoma-associated antigen C2 (Cancer/testis antigen 10) (CT10) (Hepatocellular carcinoma-associated antigen 587) (MAGE-C2 antigen) (MAGE-E1 antigen)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ubiquitin protein ligase binding [GO:0031625]; cellular protein catabolic process [GO:0044257]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12920247}. Nucleus {ECO:0000269|PubMed:12920247}. Note=Nuclear in germ cells. Cytoplasmic in well-differentiated hepatocellular carcinoma, nuclear in moderately- and poorly-differentiated hepatocellular carcinoma.


uniprotID: Q8TD91
geneSymbol: MAGEC3
length: 643
go: ENSG00000165509;
snps: rs11095909 rs11095910 rs176024 rs176026
name:
Melanoma-associated antigen C3 (Cancer/testis antigen 7.2) (CT7.2) (Hepatocellular carcinoma-associated antigen 2) (MAGE-C3 antigen)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TD91-1; Sequence=Displayed; Name=2; IsoId=Q8TD91-2; Sequence=VSP_043489, VSP_043490, VSP_043491; Note=No experimental confirmation available.; 


uniprotID: P56470
geneSymbol: LGALS4
pdb: 1X50;4XZP;4YLZ;4YM0;4YM1;4YM2;4YM3;5CBL;5DUU;5DUV;5DUW;5DUX;
length: 323
go: ENSG00000171747;
snps: rs8106404
name:
Galectin-4 (Gal-4) (Antigen NY-CO-27) (L-36 lactose-binding protein) (L36LBP) (Lactose-binding lectin 4)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; galactoside binding [GO:0016936]; cell adhesion [GO:0007155]


uniprotID: P00338
geneSymbol: LDHA
reactome: R-HSA-70268;
length: 332
go: ENSG00000134333;
drug: DB02483;DB00157;DB02701;DB03940;
snps: rs748436361 rs200093825
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1I10;4AJP;4JNK;4L4R;4L4S;4M49;4OJN;4OKN;4QO7;4QO8;4QSM;4QT0;4R68;4R69;4RLS;4ZVV;5IXS;5IXY;5W8H;5W8I;5W8J;5W8K;5W8L;

name:
L-lactate dehydrogenase A chain (LDH-A) (EC 1.1.1.27) (Cell proliferation-inducing gene 19 protein) (LDH muscle subunit) (LDH-M) (Renal carcinoma antigen NY-REN-59)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; L-lactate dehydrogenase activity [GO:0004459]; NAD binding [GO:0051287]; glycolytic process [GO:0006096]; lactate metabolic process [GO:0006089]; NAD metabolic process [GO:0019674]; positive regulation of apoptotic process [GO:0043065]; post-embryonic animal organ development [GO:0048569]; pyruvate metabolic process [GO:0006090]; response to cAMP [GO:0051591]; response to estrogen [GO:0043627]; response to glucose [GO:0009749]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to nutrient [GO:0007584]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P00338-1; Sequence=Displayed; Name=2; IsoId=P00338-2; Sequence=VSP_014261, VSP_042787; Note=No experimental confirmation available.; Name=3; IsoId=P00338-3; Sequence=VSP_042206; Name=4; IsoId=P00338-4; Sequence=VSP_042786; Name=5; IsoId=P00338-5; Sequence=VSP_042788, VSP_042789; 


uniprotID: Q9P2V4
geneSymbol: LRIT1
length: 623
opentargets: integral component of endoplasmic reticulum membrane [GO:0030176]
snps: rs11200933 rs7090059 rs12262099 rs3814211
name:
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 (Leucine-rich repeat-containing protein 21) (Photoreceptor-associated LRR superfamily protein) (Retina-specific protein PAL)

sequence:

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9JMH2}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: Q96M69
geneSymbol: LRGUK
name: Leucine-rich repeat and guanylate kinase domain-containing protein
length: 825
go: ENSG00000155530;
snps: rs17167553 rs35149449
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cell projection [GO:0042995]; cytosol [GO:0005829]; manchette [GO:0002177]; ATP binding [GO:0005524]; guanylate kinase activity [GO:0004385]; axoneme assembly [GO:0035082]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9D5S7}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9D5S7}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q9D5S7}. Note=Localizes to the acrosome and acroplaxome in round spermatids. Localizes to the manchette during spermiogenesis. Also found in the basal body of elongating spermatids, and in primary cilia of somatic cells. {ECO:0000250|UniProtKB:Q9D5S7}.


uniprotID: O94898
geneSymbol: LRIG2
name: Leucine-rich repeats and immunoglobulin-like domains protein 2 (LIG-2)
length: 1065
go: ENSG00000198799;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; intracellular vesicle [GO:0097708]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; innervation [GO:0060384]; negative regulation of axon regeneration [GO:0048681]; negative regulation of membrane protein ectodomain proteolysis [GO:0051045]; positive regulation of protein localization to cell surface [GO:2000010]; regulation of neuron migration [GO:2001222]; regulation of platelet-derived growth factor receptor signaling pathway [GO:0010640]; sensory perception of sound [GO:0007605]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15145052}; Single-pass type I membrane protein {ECO:0000269|PubMed:15145052}. Cytoplasm {ECO:0000269|PubMed:15145052}.


uniprotID: Q12912
geneSymbol: LRMP
reactome: R-HSA-6798695;
length: 555
go: ENSG00000118308;
snps: rs6487451 rs7969931 rs1063159 rs1908946
name:
Lymphoid-restricted membrane protein (Protein Jaw1) [Cleaved into: Processed lymphoid-restricted membrane protein]

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; chromosome [GO:0005694]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; spindle pole [GO:0000922]; neutrophil degranulation [GO:0043312]; single fertilization [GO:0007338]; vesicle fusion [GO:0006906]; vesicle targeting [GO:0006903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12912-1; Sequence=Displayed; Name=2; IsoId=Q12912-2; Sequence=VSP_036471; 

location:
SUBCELLULAR LOCATION: Processed lymphoid-restricted membrane protein: Cytoplasm {ECO:0000250}.; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Nucleus envelope {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000250}. Chromosome {ECO:0000250}. Note=Colocalized with ITPR3 on the endoplasmic reticulum membrane. {ECO:0000250}.


uniprotID: Q9Y608
geneSymbol: LRRFIP2
name: Leucine-rich repeat flightless-interacting protein 2 (LRR FLII-interacting protein 2)
length: 721
go: ENSG00000093167;
snps: rs34902788
sequence:

opentargets:
DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; LRR domain binding [GO:0030275]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y608-1; Sequence=Displayed; Name=2; IsoId=Q9Y608-2; Sequence=VSP_019675, VSP_019676, VSP_019677; Name=3; IsoId=Q9Y608-3; Sequence=VSP_019674; Name=4; IsoId=Q9Y608-4; Sequence=VSP_019675, VSP_019677; Name=5; IsoId=Q9Y608-5; Sequence=VSP_056969, VSP_056970, VSP_056971, VSP_056972, VSP_019676, VSP_056973; Note=No experimental confirmation available. {ECO:0000244|PubMed:17081983, ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; 


uniprotID: Q9HBW1
geneSymbol: LRRC4
pdb: 2DL9;3ZYI;
length: 653
go: ENSG00000128594;
name:
Leucine-rich repeat-containing protein 4 (Brain tumor-associated protein BAG) (Nasopharyngeal carcinoma-associated gene 14 protein) (Netrin-G2 ligand) (NGL-2)

sequence:

opentargets:
cell junction [GO:0030054]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; Schaffer collateral - CA1 synapse [GO:0098685]; modulation of chemical synaptic transmission [GO:0050804]; postsynaptic density protein 95 clustering [GO:0097119]; regulation of synapse organization [GO:0050807]; synaptic membrane adhesion [GO:0099560]

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=LRRC4 and DLG4 are interdependent for synaptic localization. {ECO:0000250}.


uniprotID: Q9BX40
geneSymbol: LSM14B
name: Protein LSM14 homolog B (Protein FAM61B) (RNA-associated protein 55B) (hRAP55B)
length: 385
go: ENSG00000149657;
sequence:

opentargets:
RNA binding [GO:0003723]; multicellular organism development [GO:0007275]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BX40-1; Sequence=Displayed; Name=2; IsoId=Q9BX40-2; Sequence=VSP_014660; Note=No experimental confirmation available.; Name=3; IsoId=Q9BX40-3; Sequence=VSP_014658, VSP_014659, VSP_014661, VSP_014662; Note=No experimental confirmation available.; 


uniprotID: Q32MZ4
geneSymbol: LRRFIP1
reactome: R-HSA-1839117;R-HSA-3134973;R-HSA-5655302;
pdb: 4H22;
length: 808
go: ENSG00000124831;
snps: rs3213869 rs2001301 rs761312145 rs3739041 rs3739040 rs3739039 rs3739038
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
name:
Leucine-rich repeat flightless-interacting protein 1 (LRR FLII-interacting protein 1) (GC-binding factor 2) (TAR RNA-interacting protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded RNA binding [GO:0003725]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of type I interferon production [GO:0032481]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q32MZ4-1; Sequence=Displayed; Name=2; IsoId=Q32MZ4-2; Sequence=VSP_020265; Name=3; IsoId=Q32MZ4-3; Sequence=VSP_020264, VSP_020265; Name=4; IsoId=Q32MZ4-4; Sequence=VSP_046809, VSP_046810, VSP_046811, VSP_046812, VSP_046813, VSP_046814; 


uniprotID: O75096
geneSymbol: LRP4
reactome: R-HSA-3000178;
length: 1905
go: ENSG00000134569;
name:
Low-density lipoprotein receptor-related protein 4 (LRP-4) (Multiple epidermal growth factor-like domains 7)

sequence:

opentargets:
cell surface [GO:0009986]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuromuscular junction [GO:0031594]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; synaptic membrane [GO:0097060]; apolipoprotein binding [GO:0034185]; calcium ion binding [GO:0005509]; protein homodimerization activity [GO:0042803]; receptor tyrosine kinase binding [GO:0030971]; scaffold protein binding [GO:0097110]; BMP signaling pathway [GO:0030509]; dendrite morphogenesis [GO:0048813]; dorsal/ventral pattern formation [GO:0009953]; embryonic digit morphogenesis [GO:0042733]; endocytosis [GO:0006897]; hair follicle development [GO:0001942]; kidney development [GO:0001822]; limb development [GO:0060173]; negative regulation of axonogenesis [GO:0050771]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of ossification [GO:0030279]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of presynaptic membrane organization [GO:1901631]; positive regulation of skeletal muscle acetylcholine-gated channel clustering [GO:1904395]; postsynaptic membrane assembly [GO:0097104]; presynaptic membrane assembly [GO:0097105]; protein heterotetramerization [GO:0051290]; proximal/distal pattern formation [GO:0009954]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]; synapse organization [GO:0050808]; synaptic growth at neuromuscular junction [GO:0051124]; Wnt signaling pathway [GO:0016055]

snps:
rs267607222 rs267607221 rs7926667 rs267607224 rs267607223 rs267607220 rs6485702 rs387906884 rs387906883 rs2306033 rs786205153 rs2306031 rs746136135 rs2306029 rs3816614 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8VI56}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: A4QPB2
geneSymbol: LRP5L
name: Low-density lipoprotein receptor-related protein 5-like protein (LRP-5-like)
length: 252
go: ENSG00000100068;
snps: rs17616994
sequence:

opentargets:
plasma membrane [GO:0005886]; receptor complex [GO:0043235]; Wnt-activated receptor activity [GO:0042813]; Wnt-protein binding [GO:0017147]; adipose tissue development [GO:0060612]; anterior/posterior pattern specification [GO:0009952]; bone marrow development [GO:0048539]; bone morphogenesis [GO:0060349]; bone remodeling [GO:0046849]; branching involved in mammary gland duct morphogenesis [GO:0060444]; canonical Wnt signaling pathway [GO:0060070]; cholesterol homeostasis [GO:0042632]; gastrulation with mouth forming second [GO:0001702]; osteoblast development [GO:0002076]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; retinal blood vessel morphogenesis [GO:0061304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A4QPB2-1; Sequence=Displayed; Name=2; IsoId=A4QPB2-2; Sequence=VSP_026667, VSP_026668; Note=No experimental confirmation available.; 


uniprotID: P62310
geneSymbol: LSM3
reactome: R-HSA-430039;R-HSA-72163;
pdb: 3JCR;5O9Z;
name: U6 snRNA-associated Sm-like protein LSm3
length: 102
go: ENSG00000170860;
sequence:
MADDVDQQQTTNTVEEPLDLIRLSLDERIYVKMRNDRELRGRLHAYDQHLNMILGDVEETVTTIEIDEETYEEIYKSTKRNIPMLFVRGDGVVLVAPPLRVG

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; Lsm1-7-Pat1 complex [GO:1990726]; Lsm2-8 complex [GO:0120115]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; RNA binding [GO:0003723]; cytoplasmic mRNA processing body assembly [GO:0033962]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.


uniprotID: Q9BRA0
geneSymbol: NAA38
reactome: R-HSA-6811440;
length: 125
go: ENSG00000183011;
snps: rs8522
name:
N-alpha-acetyltransferase 38, NatC auxiliary subunit (LSM domain-containing protein 1) (Phosphonoformate immuno-associated protein 2)

sequence:
MAGAGPTMLLREENGCCSRRQSSSSAGDSDGEREDSAAERARQQLEALLNKTMRIRMTDGRTLVGCFLCTDRDCNVILGSAQEFLKPSDSFSAGEPRVLGLAMVPGHHIVSIEVQRESLTGPPYL

opentargets:
cytoplasm [GO:0005737]; NatC complex [GO:0031417]; nucleus [GO:0005634]; negative regulation of apoptotic process [GO:0043066]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRA0-1; Sequence=Displayed; Name=2; IsoId=Q9BRA0-2; Sequence=VSP_027566; 

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


uniprotID: P01715
geneSymbol: IGLV3-1
length: 115
go: ENSG00000211673;
name:
Immunoglobulin lambda variable 3-1 (Ig lambda chain V-IV region Bau) (Ig lambda chain V-IV region MOL) (Ig lambda chain V-IV region X)

sequence:
MAWIPLFLGVLAYCTGSVASYELTQPPSVSVSPGQTASITCSGDKLGDKYACWYQQKPGQSPVLVIYQDSKRPSGIPERFSGSNSGNTATLTISGTQAMDEADYYCQAWDSSTAH


uniprotID: A0A075B6K2
geneSymbol: IGLV3-12
name: Immunoglobulin lambda variable 3-12
length: 115
go: ENSG00000211667;
sequence:
MAWTPLLLSLLAHCTGSATSYELTQPHSVSVATAQMARITCGGNNIGSKAVHWYQQKPGQDPVLVIYSDSNRPSGIPERFSGSNPGNTATLTISRIEAGDEADYYCQVWDSSSDH


uniprotID: Q9P127
geneSymbol: LUZP4
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
name: Leucine zipper protein 4 (Cancer/testis antigen 28) (CT-28) (CT28) (Tumor antigen HOM-TES-85)
length: 313
go: ENSG00000102021;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA transport [GO:0051028]
snps: rs10482480 rs35314601
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P127-1; Sequence=Displayed; Name=2; IsoId=Q9P127-2; Sequence=VSP_053926, VSP_053927; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12032826, ECO:0000269|PubMed:25662211}. Cytoplasm {ECO:0000269|PubMed:25662211}. Note=In nuclear speckles. Relocalizes to the cytoplasm during cell division. {ECO:0000269|PubMed:12032826, ECO:0000269|PubMed:25662211}.


uniprotID: A0A0B4J1U3
geneSymbol: IGLV1-36
name: Immunoglobulin lambda variable 1-36
length: 117
go: ENSG00000211655;
sequence:
MAWSPLFLTLITHCAGSWAQSVLTQPPSVSEAPRQRVTISCSGSSSNIGNNAVNWYQQLPGKAPKLLIYYDDLLPSGVSDRFSGSKSGTSASLAISGLQSEDEADYYCAAWDDSLNG


uniprotID: P01700
geneSymbol: IGLV1-47
pdb: 1ZVO;
length: 117
go: ENSG00000211648;
name:
Immunoglobulin lambda variable 1-47 (Ig lambda chain V-I region HA) (Ig lambda chain V-I region WAH)

sequence:
MAGFPLLLTLLTHCAGSWAQSVLTQPPSASGTPGQRVTISCSGSSSNIGSNYVYWYQQLPGTAPKLLIYSNNQRPSGVPDRFSGSKSGTSASLAISGLRSEDEADYYCAAWDDSLSG

opentargets:
blood microparticle [GO:0072562]; 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: A0A075B6K6
geneSymbol: IGLV4-3
name: Immunoglobulin lambda variable 4-3
length: 122
go: ENSG00000211672;
sequence:
MAWVSFYLLPFIFSTGLCALPVLTQPPSASALLGASIKLTCTLSSEHSTYTIEWYQQRPGRSPQYIMKVKSDGSHSKGDGIPDRFMGSSSGADRYLTFSNLQSDDEAEYHCGESHTIDGQVG


uniprotID: A0A075B6H9
geneSymbol: IGLV4-69
name: Immunoglobulin lambda variable 4-69
length: 119
go: ENSG00000211637;
sequence:
MAWTPLLFLTLLLHCTGSLSQLVLTQSPSASASLGASVKLTCTLSSGHSSYAIAWHQQQPEKGPRYLMKLNSDGSHSKGDGIPDRFSGSSSGAERYLTISSLQSEDEADYYCQTWGTGI


uniprotID: Q8NDX9
geneSymbol: LY6G5B
name: Lymphocyte antigen 6 complex locus protein G5b
length: 201
go: ENSG00000240053;
snps: rs805267 rs11758242 rs9267532
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDX9-1; Sequence=Displayed; Name=2; IsoId=Q8NDX9-2; Sequence=VSP_031255; 


uniprotID: Q5SRR4
geneSymbol: LY6G5C
name: Lymphocyte antigen 6 complex locus protein G5c
length: 150
go: ENSG00000204428;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MRFMAGPAGSQSLGPLCFHSSPQALYTVLLIVLVMMSLVFGKFVPVNWEPPQPLPFPKYLRCYRCLLETKELGCLLGSDICLTPAGSSCITLHKKNSSGSDVMVSDCRSKEQMSDCSNTRTSPVSGFWIFSQYCFLDFCNDPQNRGLYTP

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5SRR4-1; Sequence=Displayed; Name=2; IsoId=Q5SRR4-2; Sequence=VSP_032004; Name=3; IsoId=Q5SRR4-3; Sequence=VSP_042107; 


uniprotID: O95867
geneSymbol: LY6G6C
reactome: R-HSA-163125;
name: Lymphocyte antigen 6 complex locus protein G6c
length: 125
go: ENSG00000204421;
snps: rs13214568
sequence:
MKALMLLTLSVLLCWVSADIRCHSCYKVPVLGCVDRQSCRLEPGQQCLTTHAYLGKMWVFSNLRCGTPEEPCQEAFNQTNRKLGLTYNTTCCNKDNCNSAGPRPTPALGLVFLTSLAGLGLWLLH

opentargets:
anchored component of membrane [GO:0031225]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; protein homooligomerization [GO:0051260]; response to bacterium [GO:0009617]

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


uniprotID: P01706
geneSymbol: IGLV2-11
length: 119
go: ENSG00000211668;
name:
Immunoglobulin lambda variable 2-11 (Ig gamma lambda chain V-II region DOT) (Ig lambda chain V-II region BOH) (Ig lambda chain V-II region BUR) (Ig lambda chain V-II region NIG-58) (Ig lambda chain V-II region TRO) (Ig lambda chain V-II region WIN)

sequence:
MAWALLLLSLLTQGTGSWAQSALTQPRSVSGSPGQSVTISCTGTSSDVGGYNYVSWYQQHPGKAPKLMIYDVSKRPSGVPDRFSGSKSGNTASLTISGLQAEDEADYYCCSYAGSYTFH


uniprotID: Q14210
geneSymbol: LY6D
reactome: R-HSA-163125;
name: Lymphocyte antigen 6D (Ly-6D) (E48 antigen)
length: 128
go: ENSG00000167656;
snps: rs2572925
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:
MRTALLLLAALAVATGPALTLRCHVCTSSSNCKHSVVCPASSRFCKTTNTVEPLRGNLVKKDCAESCTPSYTLQGQVSSGTSSTQCCQEDLCNEKLHNAAPTRTALAHSALSLGLALSLLAVILAPSL

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; lymphocyte differentiation [GO:0030098]; response to stilbenoid [GO:0035634]


uniprotID: Q16553
geneSymbol: LY6E
reactome: R-HSA-163125;
length: 131
go: ENSG00000160932;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
name:
Lymphocyte antigen 6E (Ly-6E) (Retinoic acid-induced gene E protein) (RIG-E) (Stem cell antigen 2) (SCA-2) (Thymic shared antigen 1) (TSA-1)

sequence:
MKIFLPVLLAALLGVERASSLMCFSCLNQKSNLYCLKPTICSDQDNYCVTVSASAGIGNLVTFGHSLSKTCSPACPIPEGVNVGVASMGISCCQSFLCNFSAADGGLRASVTLLGAGLLLSLLPALLRFGP

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; membrane [GO:0016020]; plasma membrane [GO:0005886]; acetylcholine receptor inhibitor activity [GO:0030550]; cell surface receptor signaling pathway [GO:0007166]


uniprotID: O75342
geneSymbol: ALOX12B
reactome: R-HSA-2142712;
length: 701
go: ENSG00000179477;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|PROSITE-ProRule:PRU00726}.
name:
Arachidonate 12-lipoxygenase, 12R-type (12R-LOX) (12R-lipoxygenase) (EC 1.13.11.-) (Epidermis-type lipoxygenase 12)

sequence:

opentargets:
cytosol [GO:0005829]; arachidonate 12-lipoxygenase activity [GO:0004052]; iron ion binding [GO:0005506]; linoleate 9S-lipoxygenase activity [GO:1990136]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; arachidonic acid metabolic process [GO:0019369]; ceramide biosynthetic process [GO:0046513]; establishment of skin barrier [GO:0061436]; hepoxilin biosynthetic process [GO:0051122]; linoleic acid metabolic process [GO:0043651]; lipoxygenase pathway [GO:0019372]; oxidation-reduction process [GO:0055114]; positive regulation of gene expression [GO:0010628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mucus secretion [GO:0070257]; protein lipidation [GO:0006497]; sphingolipid metabolic process [GO:0006665]

snps:
rs201575829 rs397514533 rs8077661 rs397514526 rs72842957 rs200516538 rs760428119 rs1039399607 rs137853023 rs774958790 rs763468558 rs199766569 rs199545653 rs137853024 rs752509098 rs397514528 


uniprotID: P28300
geneSymbol: LOX
reactome: R-HSA-1566948;R-HSA-2243919;
name: Protein-lysine 6-oxidase (EC 1.4.3.13) (Lysyl oxidase)
length: 417
go: ENSG00000113083;
snps: rs752839330 rs767855588 rs1800449 rs886040967 rs886040965 rs876657852
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P28301}. Secreted, extracellular space.
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; copper ion binding [GO:0005507]; protein-lysine 6-oxidase activity [GO:0004720]; aorta development [GO:0035904]; blood vessel morphogenesis [GO:0048514]; cellular protein modification process [GO:0006464]; collagen fibril organization [GO:0030199]; elastic fiber assembly [GO:0048251]; heart development [GO:0007507]; lung development [GO:0030324]; peptidyl-lysine oxidation [GO:0018057]; response to drug [GO:0042493]; response to steroid hormone [GO:0048545]; wound healing [GO:0042060]


uniprotID: Q6UWN5
geneSymbol: LYPD5
reactome: R-HSA-163125;
name: Ly6/PLAUR domain-containing protein 5
length: 251
go: ENSG00000159871;
snps: rs114779742 rs11547806 rs349053
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]; laminin binding [GO:0043236]; cell-matrix adhesion [GO:0007160]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWN5-1; Sequence=Displayed; Name=2; IsoId=Q6UWN5-2; Sequence=VSP_017447; Note=No experimental confirmation available.; 


uniprotID: Q7Z3D4
geneSymbol: LYSMD3
name: LysM and putative peptidoglycan-binding domain-containing protein 3
length: 306
go: ENSG00000176018;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z3D4-1; Sequence=Displayed; Name=2; IsoId=Q7Z3D4-2; Sequence=VSP_020126, VSP_020127; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z3D4-3; Sequence=VSP_020125, VSP_020128; Note=No experimental confirmation available.; 


uniprotID: Q5XG99
geneSymbol: LYSMD4
name: LysM and putative peptidoglycan-binding domain-containing protein 4
length: 296
go: ENSG00000183060;
opentargets: integral component of membrane [GO:0016021]
snps: rs8041089 rs8041078 rs2061007
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5XG99-1; Sequence=Displayed; Name=2; IsoId=Q5XG99-2; Sequence=VSP_039883; 


uniprotID: Q96S90
geneSymbol: LYSMD1
pdb: 2DJP;
name: LysM and putative peptidoglycan-binding domain-containing protein 1
length: 227
go: ENSG00000163155;
opentargets: nucleoplasm [GO:0005654]; nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96S90-1; Sequence=Displayed; Name=2; IsoId=Q96S90-2; Sequence=VSP_041083; 


uniprotID: Q9Y250
geneSymbol: LZTS1
length: 596
go: ENSG00000061337;
snps: rs28937897 rs34620053 rs119473032 rs723874
name:
Leucine zipper putative tumor suppressor 1 (F37/esophageal cancer-related gene-coding leucine-zipper motif) (Fez1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; microtubule binding [GO:0008017]; mitotic cell cycle phase transition [GO:0044772]; negative regulation of macroautophagy [GO:0016242]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q9Y250-1; Sequence=Displayed; Name=2; IsoId=Q9Y250-2; Sequence=VSP_009946; Name=3; IsoId=Q9Y250-3; Sequence=VSP_009945; Name=4; IsoId=Q9Y250-4; Sequence=VSP_009944; Name=5; IsoId=Q9Y250-5; Sequence=VSP_009943; Name=6; IsoId=Q9Y250-6; Sequence=VSP_009942; Name=7; IsoId=Q9Y250-7; Sequence=VSP_009940, VSP_009941; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Associated with the plasma membrane and with microtubules. Detected in dendritic spines, especially in the postsynaptic density (By similarity). {ECO:0000250}.


uniprotID: Q9BRK4
geneSymbol: LZTS2
name: Leucine zipper putative tumor suppressor 2 (hLZTS2) (Protein LAPSER1)
length: 669
go: ENSG00000107816;
snps: rs367898512 rs2275381
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule [GO:0005874]; midbody [GO:0030496]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; kidney development [GO:0001822]; microtubule severing [GO:0051013]; mitotic cytokinesis [GO:0000281]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein localization to nucleus [GO:1900181]; nuclear export [GO:0051168]; spindle midzone assembly [GO:0051255]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localized to the centrosome throughout the cell cycle. Localized to the midbody in cells undergoing cytokinesis.


uniprotID: Q8TC57
geneSymbol: M1AP
length: 530
go: ENSG00000159374;
snps: rs3025980 rs7602159
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Meiosis 1 arrest protein (Meiosis 1-arresting protein) (Meiosis 1-associated protein) (Spermatogenesis-associated protein 37)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; identical protein binding [GO:0042802]; cell differentiation [GO:0030154]; chromatin assembly [GO:0031497]; female gamete generation [GO:0007292]; male meiosis chromosome separation [GO:0051308]; meiosis I [GO:0007127]; RNA processing [GO:0006396]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TC57-1; Sequence=Displayed; Name=2; IsoId=Q8TC57-2; Sequence=VSP_035293, VSP_035294; Note=No experimental confirmation available.; Name=3; IsoId=Q8TC57-3; Sequence=VSP_035291, VSP_035292; Note=No experimental confirmation available.; Name=4; IsoId=Q8TC57-4; Sequence=VSP_055677; Note=No experimental confirmation available.; 


uniprotID: Q13233
geneSymbol: MAP3K1
reactome: R-HSA-166058;R-HSA-2871796;R-HSA-933542;R-HSA-975138;R-HSA-975871;
length: 1512
go: ENSG00000095015;
drug: DB06061;
snps: rs387906788 rs387906788 rs143853590 rs702689 rs832582
name:
Mitogen-activated protein kinase kinase kinase 1 (EC 2.7.11.25) (MAPK/ERK kinase kinase 1) (MEK kinase 1) (MEKK 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; zinc ion binding [GO:0008270]; activation of protein kinase activity [GO:0032147]; cellular response to mechanical stimulus [GO:0071260]; Fc-epsilon receptor signaling pathway [GO:0038095]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; protein phosphorylation [GO:0006468]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]


uniprotID: Q9H2W1
geneSymbol: MS4A6A
length: 248
go: ENSG00000110077;
opentargets: integral component of membrane [GO:0016021]
snps: rs7232
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Membrane-spanning 4-domains subfamily A member 6A (CD20 antigen-like 3) (Four-span transmembrane protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=3.1; IsoId=Q9H2W1-1; Sequence=Displayed; Name=2; Synonyms=3.2; IsoId=Q9H2W1-2; Sequence=VSP_007381, VSP_007382; Name=3; IsoId=Q9H2W1-3; Sequence=VSP_007383, VSP_007384; Name=4; IsoId=Q9H2W1-4; Sequence=VSP_041191, VSP_041192; Name=5; IsoId=Q9H2W1-5; Sequence=VSP_056732, VSP_007381, VSP_007382; Note=No experimental confirmation available.; 


uniprotID: Q9UKM7
geneSymbol: MAN1B1
reactome: R-HSA-4793950;R-HSA-901032;
pdb: 1FMI;1FO2;1FO3;1X9D;5KIJ;5KK7;
length: 699
go: ENSG00000177239;
drug: DB03206;DB02742;DB02422;
snps: rs968733 rs387906886 rs387906885
name:
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (EC 3.2.1.113) (ER alpha-1,2-mannosidase) (ER mannosidase 1) (ERMan1) (Man9GlcNAc2-specific-processing alpha-mannosidase) (Mannosidase alpha class 1B member 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; extracellular vesicle [GO:1903561]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; mannosyl-oligosaccharide 1,2-alpha-mannosidase activity [GO:0004571]; endoplasmic reticulum mannose trimming [GO:1904380]; mannose trimming involved in glycoprotein ERAD pathway [GO:1904382]; N-glycan processing [GO:0006491]; oligosaccharide metabolic process [GO:0009311]; protein alpha-1,2-demannosylation [GO:0036508]; protein glycosylation [GO:0006486]; trimming of first mannose on A branch [GO:0036511]; trimming of second mannose on A branch [GO:0036512]; trimming of terminal mannose on B branch [GO:0036509]; trimming of terminal mannose on C branch [GO:0036510]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10409699}; Single-pass type II membrane protein {ECO:0000269|PubMed:10409699}.


uniprotID: P49641
geneSymbol: MAN2A2
reactome: R-HSA-6811438;R-HSA-975578;
length: 1150
go: ENSG00000196547;
snps: rs2106673 rs1266494
name:
Alpha-mannosidase 2x (EC 3.2.1.114) (Alpha-mannosidase IIx) (Man IIx) (Mannosidase alpha class 2A member 2) (Mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-mannosidase activity [GO:0004559]; carbohydrate binding [GO:0030246]; hydrolase activity, hydrolyzing N-glycosyl compounds [GO:0016799]; mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity [GO:0004572]; metal ion binding [GO:0046872]; mannose metabolic process [GO:0006013]; N-glycan processing [GO:0006491]; protein deglycosylation [GO:0006517]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=3; IsoId=P49641-3; Sequence=Displayed; Name=1; Synonyms=Long; IsoId=P49641-1; Sequence=VSP_041732, VSP_041734; Name=2; Synonyms=Short; IsoId=P49641-2; Sequence=VSP_041733; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q13477
geneSymbol: MADCAM1
reactome: R-HSA-198933;R-HSA-216083;
pdb: 1BQS;1GSM;4HBQ;4HC1;4HCR;4HD9;
name: Mucosal addressin cell adhesion molecule 1 (MAdCAM-1) (hMAdCAM-1)
length: 382
go: ENSG00000099866;
snps: rs3745925
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; integrin binding involved in cell-matrix adhesion [GO:0098640]; cell adhesion [GO:0007155]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; immune response [GO:0006955]; integrin-mediated signaling pathway [GO:0007229]; leukocyte tethering or rolling [GO:0050901]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of lymphocyte migration [GO:2000403]; receptor clustering [GO:0043113]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q13477-1; Sequence=Displayed; Name=2; IsoId=Q13477-2; Sequence=VSP_050014; Name=3; IsoId=Q13477-3; Sequence=VSP_043202; Note=No experimental confirmation available.; Name=4; IsoId=Q13477-4; Sequence=VSP_047694, VSP_043202; 


uniprotID: Q8WXG6
geneSymbol: MADD
reactome: R-HSA-5357905;R-HSA-8876198;
length: 1647
go: ENSG00000110514;
snps: rs17854007 rs1051006 rs3736101 rs17854008 rs17854009 rs34534575
name:
MAP kinase-activating death domain protein (Differentially expressed in normal and neoplastic cells) (Insulinoma glucagonoma clone 20) (Rab3 GDP/GTP exchange factor)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; death receptor binding [GO:0005123]; protein kinase activator activity [GO:0030295]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; activation of MAPK activity [GO:0000187]; cell surface receptor signaling pathway [GO:0007166]; execution phase of apoptosis [GO:0097194]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]; regulation of extrinsic apoptotic signaling pathway [GO:2001236]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of Rab protein signal transduction [GO:0032483]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1 {ECO:0000269|PubMed:11577081}; Synonyms=IG20 {ECO:0000269|PubMed:11577081}, IG20-FL {ECO:0000269|PubMed:14716293}; IsoId=Q8WXG6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11577081}; Synonyms=IG20 {ECO:0000269|PubMed:14716293}, IG20-PA {ECO:0000269|PubMed:11577081}, IG20-PASV {ECO:0000269|PubMed:11577081}; IsoId=Q8WXG6-2; Sequence=VSP_052295, VSP_052296; Name=3 {ECO:0000269|PubMed:8988362, ECO:0000269|PubMed:9115275, ECO:0000269|PubMed:9796103}; Synonyms=DENN {ECO:0000269|PubMed:8988362, ECO:0000269|PubMed:9796103}, IG20-SV1 {ECO:0000269|PubMed:14716293}, MADD {ECO:0000269|PubMed:9115275}; IsoId=Q8WXG6-3; Sequence=VSP_052294, VSP_052295, VSP_055676, VSP_052296; Name=4 {ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:8988362, ECO:0000269|PubMed:9796103}; Synonyms=IG20-SV2 {ECO:0000269|PubMed:11577081}; IsoId=Q8WXG6-4; Sequence=VSP_052293, VSP_052295, VSP_052296; Name=5 {ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:15489334}; Synonyms=DENN-SV {ECO:0000269|PubMed:15489334}, IG20-SV3 {ECO:0000269|PubMed:11577081}; IsoId=Q8WXG6-5; Sequence=VSP_052293, VSP_052294, VSP_052295, VSP_052296; Name=6 {ECO:0000269|PubMed:11577081}; Synonyms=IG20-SV4 {ECO:0000269|PubMed:11577081}; IsoId=Q8WXG6-6; Sequence=VSP_052293, VSP_052294, VSP_052295, VSP_052296, VSP_052297, VSP_052298; Name=7 {ECO:0000269|PubMed:9205841}; IsoId=Q8WXG6-7; Sequence=VSP_052297, VSP_052298; Name=8; IsoId=Q8WXG6-8; Sequence=VSP_052293, VSP_052294, VSP_052295, VSP_044848, VSP_052296; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:8988362}. Cytoplasm {ECO:0000269|PubMed:8988362}.


uniprotID: Q96JY0
geneSymbol: MAEL
reactome: R-HSA-5601884;
pdb: 2CTO;
name: Protein maelstrom homolog
length: 434
go: ENSG00000143194;
snps: rs11578336
sequence:

opentargets:
autosome [GO:0030849]; chromatin [GO:0000785]; chromatoid body [GO:0033391]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; P granule [GO:0043186]; perinuclear region of cytoplasm [GO:0048471]; piP-body [GO:0071547]; XY body [GO:0001741]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; cell differentiation [GO:0030154]; cell morphogenesis [GO:0000902]; DNA methylation involved in gamete generation [GO:0043046]; fertilization [GO:0009566]; gene silencing by RNA [GO:0031047]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; male meiotic nuclear division [GO:0007140]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; piRNA metabolic process [GO:0034587]; regulation of gene silencing by miRNA [GO:0060964]; regulation of organ growth [GO:0046620]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96JY0-1; Sequence=Displayed; Name=2; IsoId=Q96JY0-2; Sequence=VSP_036661; Note=No experimental confirmation available.; Name=3; IsoId=Q96JY0-3; Sequence=VSP_036660, VSP_036662; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BVN9}. Nucleus {ECO:0000250|UniProtKB:Q8BVN9}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to piP-bodies, a subset of the nuage which contains secondary piRNAs (By similarity). {ECO:0000250|UniProtKB:Q8BVN9}.


uniprotID: O60675
geneSymbol: MAFK
reactome: R-HSA-983231;
name: Transcription factor MafK (Erythroid transcription factor NF-E2 p18 subunit)
length: 156
go: ENSG00000198517;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:
MTTNPKPNKALKVKKEAGENAPVLSDDELVSMSVRELNQHLRGLTKEEVTRLKQRRRTLKNRGYAASCRIKRVTQKEELERQRVELQQEVEKLARENSSMRLELDALRSKYEALQTFARTVARGPVAPSKVATTSVITIVKSTELSSTSVPFSAAS

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]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RING-like zinc finger domain binding [GO:0071535]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription cofactor binding [GO:0001221]; blood coagulation [GO:0007596]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]


uniprotID: Q8N5G2
geneSymbol: MACO1
name: Macoilin (Macoilin-1) (Transmembrane protein 57)
length: 664
go: ENSG00000204178;
sequence:

opentargets:
axon [GO:0030424]; integral component of membrane [GO:0016021]; neuron projection terminus [GO:0044306]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; rough endoplasmic reticulum membrane [GO:0030867]; synapse [GO:0045202]; brain development [GO:0007420]; neuronal signal transduction [GO:0023041]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N5G2-1; Sequence=Displayed; Name=2; IsoId=Q8N5G2-2; Sequence=VSP_017203; Name=3; IsoId=Q8N5G2-3; Sequence=VSP_017204, VSP_017205; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q7TQE6}; Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:Q7TQE6}. Rough endoplasmic reticulum membrane {ECO:0000269|PubMed:21589894}; Multi-pass membrane protein {ECO:0000255}. Note=Detected in the nucleus membrane of non-neuronal cells and in axonal outgrowths of neuronal cells. {ECO:0000250|UniProtKB:Q7TQE6}.


uniprotID: Q9BXY0
geneSymbol: MAK16
name: Protein MAK16 homolog (NNP78) (Protein RBM13)
length: 300
go: ENSG00000198042;
snps: rs6468171
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; preribosome, large subunit precursor [GO:0030687]; RNA binding [GO:0003723]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11790298, ECO:0000269|PubMed:12429849}.


uniprotID: Q9UDY8
geneSymbol: MALT1
reactome: R-HSA-1169091;R-HSA-202424;R-HSA-2871837;R-HSA-5607764;R-HSA-5660668;
pdb: 2G7R;3BFO;3K0W;3UO8;3UOA;3V4O;3V55;4I1P;4I1R;
length: 824
go: ENSG00000172175;
snps: rs398123058 rs35533328
name:
Mucosa-associated lymphoid tissue lymphoma translocation protein 1 (EC 3.4.22.-) (MALT lymphoma-associated translocation) (Paracaspase)

sequence:

opentargets:
CBM complex [GO:0032449]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; cysteine-type endopeptidase activity [GO:0004197]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; protease binding [GO:0002020]; protein self-association [GO:0043621]; ubiquitin-protein transferase activity [GO:0004842]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; B cell activation [GO:0042113]; B-1 B cell differentiation [GO:0001923]; defense response [GO:0006952]; Fc-epsilon receptor signaling pathway [GO:0038095]; innate immune response [GO:0045087]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; negative regulation of apoptotic process [GO:0043066]; nuclear export [GO:0051168]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of T cell cytokine production [GO:0002726]; positive regulation of T-helper 17 cell differentiation [GO:2000321]; protein complex oligomerization [GO:0051259]; proteolysis [GO:0006508]; regulation of apoptotic process [GO:0042981]; regulation of T cell receptor signaling pathway [GO:0050856]; response to fungus [GO:0009620]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell proliferation [GO:0042098]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UDY8-1; Sequence=Displayed; Name=2; IsoId=Q9UDY8-2; Sequence=VSP_000844; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:16123224}. Nucleus {ECO:0000269|PubMed:16123224}. Note=Shuttles between the nucleus and cytoplasm. Found in perinuclear structures together with BCL10.


uniprotID: Q7Z304
geneSymbol: MAMDC2
name: MAM domain-containing protein 2 (MAM domain-containing proteoglycan) (Mamcan)
length: 686
go: ENSG00000165072;
opentargets: endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; membrane [GO:0016020]
snps: rs1998972 rs35534839
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z304-1; Sequence=Displayed; Name=2; IsoId=Q7Z304-2; Sequence=VSP_009834; Note=No experimental confirmation available.; 


uniprotID: O00462
geneSymbol: MANBA
reactome: R-HSA-6798695;R-HSA-8853383;
name: Beta-mannosidase (EC 3.2.1.25) (Lysosomal beta A mannosidase) (Mannanase) (Mannase)
length: 879
go: ENSG00000109323;
snps: rs227368 rs227368 rs2866413
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; beta-mannosidase activity [GO:0004567]; mannose binding [GO:0005537]; cellular protein modification process [GO:0006464]; glycoprotein catabolic process [GO:0006516]; mannan catabolic process [GO:0046355]; neutrophil degranulation [GO:0043312]; oligosaccharide catabolic process [GO:0009313]


uniprotID: Q16798
geneSymbol: ME3
reactome: R-HSA-71403;
name: NADP-dependent malic enzyme, mitochondrial (NADP-ME) (EC 1.1.1.40) (Malic enzyme 3)
length: 604
go: ENSG00000151376;
drug: DB00157;DB03680;
snps: rs17856661 rs1042780
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; cofactor binding [GO:0048037]; 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]; aerobic respiration [GO:0009060]; malate metabolic process [GO:0006108]; oxidation-reduction process [GO:0055114]; oxygen metabolic process [GO:0072592]; pyruvate metabolic process [GO:0006090]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16798-1; Sequence=Displayed; Name=2; IsoId=Q16798-2; Sequence=VSP_056626, VSP_056627; Note=No experimental confirmation available.; 


uniprotID: Q9P2E8
geneSymbol: MARCH4
length: 410
go: ENSG00000144583;
name:
E3 ubiquitin-protein ligase MARCH4 (EC 2.3.2.27) (Membrane-associated RING finger protein 4) (Membrane-associated RING-CH protein IV) (MARCH-IV) (RING finger protein 174) (RING-type E3 ubiquitin transferase MARCH4)

sequence:

opentargets:
Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of membrane [GO:0016021]; trans-Golgi network [GO:0005802]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]

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


uniprotID: Q9H992
geneSymbol: MARCH7
length: 704
go: ENSG00000136536;
snps: rs17813964 rs16844275 rs13024801
name:
E3 ubiquitin-protein ligase MARCH7 (EC 2.3.2.27) (Axotrophin) (Membrane-associated RING finger protein 7) (Membrane-associated RING-CH protein VII) (MARCH-VII) (RING finger protein 177) (RING-type E3 ubiquitin transferase MARCH7)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; MDM2/MDM4 family protein binding [GO:0097371]; transferase activity [GO:0016740]; ubiquitin binding [GO:0043130]; ubiquitin conjugating enzyme binding [GO:0031624]; zinc ion binding [GO:0008270]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of proteasomal protein catabolic process [GO:1901799]; negative regulation of protein autoubiquitination [GO:1905524]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein polyubiquitination [GO:1902916]; protein autoubiquitination [GO:0051865]; protein stabilization [GO:0050821]; regulation of tolerance induction [GO:0002643]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H992-1; Sequence=Displayed; Name=2; IsoId=Q9H992-2; Sequence=VSP_054406; Note=No experimental confirmation available.; 


uniprotID: Q969Z3
geneSymbol: MARC2
reactome: R-HSA-211945;
length: 335
go: ENSG00000117791;
snps: rs72472370 rs3795535 rs76664695
name:
Mitochondrial amidoxime reducing component 2 (mARC2) (EC 1.-.-.-) (Molybdenum cofactor sulfurase C-terminal domain-containing protein 2) (MOSC domain-containing protein 2) (Moco sulfurase C-terminal domain-containing protein 2)

sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; molybdenum ion binding [GO:0030151]; molybdopterin cofactor binding [GO:0043546]; nitrate reductase activity [GO:0008940]; pyridoxal phosphate binding [GO:0030170]; detoxification of nitrogen compound [GO:0051410]; nitrate metabolic process [GO:0042126]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969Z3-1; Sequence=Displayed; Name=2; IsoId=Q969Z3-2; Sequence=VSP_022513, VSP_022514; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Peripheral membrane protein. Peroxisome {ECO:0000250}.


uniprotID: Q5T0T0
geneSymbol: MARCH8
pdb: 2D8S;
length: 291
go: ENSG00000165406;
snps: rs3764990 rs7908745
name:
E3 ubiquitin-protein ligase MARCH8 (EC 2.3.2.27) (Cellular modulator of immune recognition) (c-MIR) (Membrane-associated RING finger protein 8) (Membrane-associated RING-CH protein VIII) (MARCH-VIII) (RING finger protein 178) (RING-type E3 ubiquitin transferase MARCH8)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; adaptive immune response [GO:0002250]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T0T0-1; Sequence=Displayed; Name=2; IsoId=Q5T0T0-2; Sequence=VSP_055697; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:19117940}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000269|PubMed:14722266}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9BYZ2
geneSymbol: LDHAL6B
reactome: R-HSA-70268;
name: L-lactate dehydrogenase A-like 6B (EC 1.1.1.27)
length: 381
go: ENSG00000171989;
drug: DB00157;
snps: rs3809530 rs3809529 rs35212259 rs3825937
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; nucleus [GO:0005634]; L-lactate dehydrogenase activity [GO:0004459]; carbohydrate metabolic process [GO:0005975]; pyruvate metabolic process [GO:0006090]


uniprotID: P60409
geneSymbol: KRTAP10-7
reactome: R-HSA-6805567;
length: 375
snps: rs944419 rs233308 rs363877 rs446817 rs369720
name:
Keratin-associated protein 10-7 (High sulfur keratin-associated protein 10.7) (Keratin-associated protein 10.7) (Keratin-associated protein 18-7) (Keratin-associated protein 18.7)

sequence:

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; identical protein binding [GO:0042802]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60409-1; Sequence=Displayed; Name=2; IsoId=P60409-2; Sequence=VSP_021023; 


uniprotID: P41159
geneSymbol: LEP
reactome: R-HSA-2586552;R-HSA-381340;R-HSA-381771;R-HSA-422085;
pdb: 1AX8;
name: Leptin (Obese protein) (Obesity factor)
length: 167
go: ENSG00000174697;
snps: rs17151919 rs724159998 rs104894023 rs1800564
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:25232147}.
sequence:
MHWGTLCGFLWLWPYLFYVQAVPIQKVQDDTKTLIKTIVTRINDISHTQSVSSKQKVTGLDFIPGLHPILTLSKMDQTLAVYQQILTSMPSRNVIQISNDLENLRDLLHVLAFSKSCHLPWASGLETLDSLGGVLEASGYSTEVVALSRLQGSLQDMLWQLDLSPGC

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; peptide hormone receptor binding [GO:0051428]; activation of protein kinase C activity [GO:1990051]; adipose tissue development [GO:0060612]; adult feeding behavior [GO:0008343]; angiogenesis [GO:0001525]; bile acid metabolic process [GO:0008206]; bone growth [GO:0098868]; bone mineralization involved in bone maturation [GO:0035630]; cardiac muscle hypertrophy [GO:0003300]; cellular response to L-ascorbic acid [GO:0071298]; cellular response to leptin stimulus [GO:0044320]; cellular response to retinoic acid [GO:0071300]; central nervous system neuron development [GO:0021954]; cholesterol metabolic process [GO:0008203]; circadian rhythm [GO:0007623]; eating behavior [GO:0042755]; energy reserve metabolic process [GO:0006112]; fatty acid beta-oxidation [GO:0006635]; female pregnancy [GO:0007565]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; glycerol biosynthetic process [GO:0006114]; hormone metabolic process [GO:0042445]; insulin secretion [GO:0030073]; interleukin-12 production [GO:0032615]; interleukin-6 secretion [GO:0072604]; interleukin-8 secretion [GO:0072606]; intestinal absorption [GO:0050892]; leptin-mediated signaling pathway [GO:0033210]; leukocyte tethering or rolling [GO:0050901]; lipid metabolic process [GO:0006629]; negative regulation of apoptotic process [GO:0043066]; negative regulation of appetite [GO:0032099]; negative regulation of appetite by leptin-mediated signaling pathway [GO:0038108]; negative regulation of autophagy [GO:0010507]; negative regulation of cartilage development [GO:0061037]; negative regulation of glucagon secretion [GO:0070093]; negative regulation of glucose import [GO:0046325]; negative regulation of glutamine transport [GO:2000486]; negative regulation of lipid storage [GO:0010888]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vasoconstriction [GO:0045906]; ovulation from ovarian follicle [GO:0001542]; phagocytosis [GO:0006909]; placenta development [GO:0001890]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of developmental growth [GO:0048639]; positive regulation of fat cell apoptotic process [GO:1904651]; positive regulation of follicle-stimulating hormone secretion [GO:0046881]; positive regulation of hepatic stellate cell activation [GO:2000491]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of ion transport [GO:0043270]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of luteinizing hormone secretion [GO:0033686]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of TOR signaling [GO:0032008]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; prostaglandin secretion [GO:0032310]; regulation of angiogenesis [GO:0045765]; regulation of blood pressure [GO:0008217]; regulation of bone remodeling [GO:0046850]; regulation of brown fat cell differentiation [GO:0090335]; regulation of cell cycle [GO:0051726]; regulation of cytokine production involved in inflammatory response [GO:1900015]; regulation of endothelial cell proliferation [GO:0001936]; regulation of gluconeogenesis [GO:0006111]; regulation of insulin secretion [GO:0050796]; regulation of intestinal cholesterol absorption [GO:0030300]; regulation of lipoprotein lipid oxidation [GO:0060587]; regulation of natural killer cell activation [GO:0032814]; regulation of natural killer cell mediated cytotoxicity [GO:0042269]; regulation of natural killer cell proliferation [GO:0032817]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of steroid biosynthetic process [GO:0050810]; response to activity [GO:0014823]; response to dietary excess [GO:0002021]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to vitamin E [GO:0033197]; sexual reproduction [GO:0019953]; T cell differentiation [GO:0030217]; tyrosine phosphorylation of STAT protein [GO:0007260]


uniprotID: Q8N6Y2
geneSymbol: LRRC17
name: Leucine-rich repeat-containing protein 17 (p37NB)
length: 441
go: ENSG00000128606;
snps: rs34613342 rs3800939 rs1057066
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; bone marrow development [GO:0048539]; negative regulation of osteoclast differentiation [GO:0045671]; ossification [GO:0001503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6Y2-1; Sequence=Displayed; Name=2; IsoId=Q8N6Y2-2; Sequence=VSP_011424, VSP_011425; 


uniprotID: Q8N456
geneSymbol: LRRC18
name: Leucine-rich repeat-containing protein 18
length: 261
go: ENSG00000165383;
snps: rs7094610 rs17772611
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; ion channel complex [GO:0034702]; volume-sensitive anion channel activity [GO:0005225]; anion transmembrane transport [GO:0098656]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N456-1; Sequence=Displayed; Name=2; IsoId=Q8N456-2; Sequence=VSP_015740; 


uniprotID: Q8NAA5
geneSymbol: LRRC75A
name: Leucine-rich repeat-containing protein 75A (Leucine-rich repeat-containing protein FAM211A)
length: 344
go: ENSG00000181350;
opentargets: cytoplasm [GO:0005737]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NAA5-1; Sequence=Displayed; Name=2; IsoId=Q8NAA5-2; Sequence=VSP_025134, VSP_025135; 


uniprotID: Q8TCA0
geneSymbol: LRRC20
name: Leucine-rich repeat-containing protein 20
length: 184
go: ENSG00000172731;
sequence:
MLKKMGEAVARVARKVNETVESGSDTLDLAECKLVSFPIGIYKVLRNVSGQIHLITLANNELKSLTSKFMTTFSQLRELHLEGNFLHRLPSEVSALQHLKAIDLSRNQFQDFPEQLTALPALETINLEENEIVDVPVEKLAAMPALRSINLRFNPLNAEVRVIAPPLIKFDMLMSPEGARAPLP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TCA0-1; Sequence=Displayed; Name=2; IsoId=Q8TCA0-2; Sequence=VSP_015933; Name=3; IsoId=Q8TCA0-3; Sequence=VSP_015934; 


uniprotID: Q53EV4
geneSymbol: LRRC23
name: Leucine-rich repeat-containing protein 23 (Leucine-rich protein B7)
length: 343
go: ENSG00000010626;
opentargets: cytoplasm [GO:0005737]
snps: rs2071072 rs2071073 rs1057077
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53EV4-1; Sequence=Displayed; Name=2; IsoId=Q53EV4-2; Sequence=VSP_021889; 


uniprotID: Q8N386
geneSymbol: LRRC25
name: Leucine-rich repeat-containing protein 25 (Monocyte and plasmacytoid-activated protein)
length: 305
go: ENSG00000175489;
opentargets: cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]
snps: rs34439430 rs6512265
sequence:

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:29044191}.


uniprotID: Q2I0M4
geneSymbol: LRRC26
length: 334
go: ENSG00000184709;
name:
Leucine-rich repeat-containing protein 26 (BK channel auxiliary gamma subunit LRRC26) (Cytokeratin-associated protein in cancer)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel activator activity [GO:0099104]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=L-CAPC; IsoId=Q2I0M4-1; Sequence=Displayed; Name=2; Synonyms=S-CAPC; IsoId=Q2I0M4-2; Sequence=VSP_040058, VSP_040205; Note=Translation initiates from a UGC codon. It is unsure whether the initiator amino acid is a modified cysteine or a methionine. Could also be the result of a proteolytic cleavage from a longer precursor.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Note=Localizes to the cytoplasm when expressed at high levels. {ECO:0000269|PubMed:15164053}.


uniprotID: A6NM36
geneSymbol: LRRC30
name: Leucine-rich repeat-containing protein 30
length: 301
go: ENSG00000206422;
sequence:

opentargets:
photoreceptor inner segment [GO:0001917]; photoreceptor outer segment membrane [GO:0042622]; protein serine/threonine phosphatase activity [GO:0004722]; protein dephosphorylation [GO:0006470]


uniprotID: Q9H9A6
geneSymbol: LRRC40
name: Leucine-rich repeat-containing protein 40
length: 602
go: ENSG00000066557;
opentargets: cytoplasm [GO:0005737]; membrane [GO:0016020]
snps: rs270495 rs3180401
sequence:


uniprotID: P50851
geneSymbol: LRBA
pdb: 1T77;
length: 2863
go: ENSG00000198589;
snps: rs1782360 rs34708681 rs17027133 rs35879351 rs199469663 rs3749574 rs34662958 rs2290846
name:
Lipopolysaccharide-responsive and beige-like anchor protein (Beige-like protein) (CDC4-like protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; membrane [GO:0016020]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50851-1; Sequence=Displayed; Name=2; IsoId=P50851-2; Sequence=VSP_038225, VSP_038226; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Endoplasmic reticulum {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Lysosome {ECO:0000250}.


uniprotID: Q5BKY1
geneSymbol: LRRC10
name: Leucine-rich repeat-containing protein 10
length: 277
go: ENSG00000198812;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoskeleton [GO:0005856]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; sarcomere [GO:0030017]; actin binding [GO:0003779]; alpha-actinin binding [GO:0051393]; cardiac muscle cell development [GO:0055013]


uniprotID: Q9Y546
geneSymbol: LRRC42
name: Leucine-rich repeat-containing protein 42
length: 428
go: ENSG00000116212;
sequence:


uniprotID: Q8N9N7
geneSymbol: LRRC57
name: Leucine-rich repeat-containing protein 57
length: 239
go: ENSG00000180979;
opentargets: extracellular exosome [GO:0070062]; membrane [GO:0016020]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
sequence:


uniprotID: Q8N309
geneSymbol: LRRC43
name: Leucine-rich repeat-containing protein 43
length: 656
go: ENSG00000158113;
snps: rs11060094 rs10847725
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N309-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8N309-2; Sequence=VSP_029636; Name=3; IsoId=Q8N309-3; Sequence=VSP_029636, VSP_029637; Note=No experimental confirmation available.; 


uniprotID: Q96CN5
geneSymbol: LRRC45
name: Leucine-rich repeat-containing protein 45
length: 670
go: ENSG00000169683;
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24035387}. Note=Localizes to the proteinaceous linker between the proximal ends of the centrioles. {ECO:0000269|PubMed:24035387}.


uniprotID: Q96AG4
geneSymbol: LRRC59
length: 307
go: ENSG00000108829;
name:
Leucine-rich repeat-containing protein 59 (Ribosome-binding protein p34) (p34) [Cleaved into: Leucine-rich repeat-containing protein 59, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial nucleoid [GO:0042645]; nuclear envelope [GO:0005635]; organelle membrane [GO:0031090]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Nucleus envelope. Note=Localization in the nuclear envelope depends upon the nuclear import machinery, including KPNB1.


uniprotID: Q9Y2L9
geneSymbol: LRCH1
length: 728
go: ENSG00000136141;
snps: rs842381 rs11617392
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28028151}.
name:
Leucine-rich repeat and calponin homology domain-containing protein 1 (Calponin homology domain-containing protein 1) (Neuronal protein 81) (NP81)

sequence:

opentargets:
cytoplasm [GO:0005737]; cellular response to chemokine [GO:1990869]; negative regulation of GTPase activity [GO:0034260]; negative regulation of T cell migration [GO:2000405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=b, NP81b; IsoId=Q9Y2L9-1; Sequence=Displayed; Name=2; Synonyms=a, NP81a; IsoId=Q9Y2L9-2; Sequence=VSP_010635, VSP_010636; Name=3; IsoId=Q9Y2L9-3; Sequence=VSP_044474; Note=No experimental confirmation available.; 


uniprotID: Q8N7C0
geneSymbol: LRRC52
name: Leucine-rich repeat-containing protein 52 (BK channel auxiliary gamma subunit LRRC52)
length: 313
go: ENSG00000162763;
snps: rs17407838
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel activator activity [GO:0099104]; voltage-gated potassium channel activity [GO:0005249]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]; reproductive process [GO:0022414]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Expression at the cell surface may require the presence of KCNU1.


uniprotID: Q6P9F7
geneSymbol: LRRC8B
reactome: R-HSA-5223345;
length: 803
go: ENSG00000197147;
snps: rs17131746 rs17855025 rs3795832 rs12747447
name:
Volume-regulated anion channel subunit LRRC8B (Leucine-rich repeat-containing protein 8B) (T-cell activation leucine repeat-rich protein) (TA-LRRP)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; ion channel complex [GO:0034702]; plasma membrane [GO:0005886]; volume-sensitive anion channel activity [GO:0005225]; anion transmembrane transport [GO:0098656]; cell volume homeostasis [GO:0006884]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:24790029}. Note=In the absence of LRRC8A, resides primarily in a cytoplasmic compartment, probably the endoplasmic reticulum. Requires LRRC8A for expression at the cell membrane. {ECO:0000269|PubMed:24790029}.


uniprotID: Q6ZSA7
geneSymbol: LRRC55
name: Leucine-rich repeat-containing protein 55 (BK channel auxiliary gamma subunit LRRC55)
length: 298
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel activator activity [GO:0099104]; voltage-gated potassium channel activity [GO:0005249]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]


uniprotID: A6NDA9
geneSymbol: LRIT2
length: 550
go: ENSG00000204033;
opentargets: integral component of membrane [GO:0016021]
snps: rs12773843 rs11200927 rs11200925 rs12217769 rs6585847
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 (Leucine-rich repeat-containing protein 22)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NDA9-1; Sequence=Displayed; Name=2; IsoId=A6NDA9-2; Sequence=VSP_054539; Note=No experimental confirmation available.; 


uniprotID: Q5T3J3
geneSymbol: LRIF1
length: 769
go: ENSG00000121931;
snps: rs2232041 rs2232045 rs2232047
name:
Ligand-dependent nuclear receptor-interacting factor 1 (HP1-binding protein enriched in inactive X chromosome protein 1) (HBiX1) (Receptor-interacting factor 1)

sequence:

opentargets:
Barr body [GO:0001740]; microtubule organizing center [GO:0005815]; nuclear matrix [GO:0016363]; nucleus [GO:0005634]; retinoic acid receptor binding [GO:0042974]; dosage compensation by inactivation of X chromosome [GO:0009048]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T3J3-1; Sequence=Displayed; Name=2; IsoId=Q5T3J3-2; Sequence=VSP_020721; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:23542155}. Nucleus matrix {ECO:0000269|PubMed:17455211}. Note=Localizes to Barr body; recruited by SMCHD1. {ECO:0000269|PubMed:23542155}.


uniprotID: Q96JA1
geneSymbol: LRIG1
reactome: R-HSA-177929;R-HSA-6807004;
pdb: 4U7L;4U7M;
name: Leucine-rich repeats and immunoglobulin-like domains protein 1 (LIG-1)
length: 1093
go: ENSG00000144749;
snps: rs1403626 rs2306272 rs9877201 rs332373 rs2279289 rs332374 rs2279290
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; hair cycle process [GO:0022405]; innervation [GO:0060384]; otolith morphogenesis [GO:0032474]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JA1-1; Sequence=Displayed; Name=2; IsoId=Q96JA1-2; Sequence=VSP_011730, VSP_011731; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15282549}; Single-pass type I membrane protein {ECO:0000305|PubMed:15282549}.


uniprotID: Q96JM4
geneSymbol: LRRIQ1
name: Leucine-rich repeat and IQ domain-containing protein 1
length: 1722
go: ENSG00000133640;
snps: rs7312075 rs3765044 rs17012533
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JM4-4; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=Q96JM4-2; Sequence=VSP_030065; Note=No experimental confirmation available.; 


uniprotID: A6PVS8
geneSymbol: LRRIQ3
name: Leucine-rich repeat and IQ domain-containing protein 3 (Leucine-rich repeat-containing protein 44)
length: 624
go: ENSG00000162620;
snps: rs2274904 rs17094900 rs17591320 rs1340472 rs17094779 rs17094777 rs17094774
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6PVS8-1; Sequence=Displayed; Name=2; IsoId=A6PVS8-2; Sequence=VSP_029410, VSP_029411; Name=3; IsoId=A6PVS8-3; Sequence=VSP_029408, VSP_029409; Note=No experimental confirmation available.; 


uniprotID: Q969V5
geneSymbol: MUL1
reactome: R-HSA-5689880;
length: 352
go: ENSG00000090432;
name:
Mitochondrial ubiquitin ligase activator of NFKB 1 (EC 2.3.2.27) (E3 SUMO-protein ligase MUL1) (E3 ubiquitin-protein ligase MUL1) (Growth inhibition and death E3 ligase) (Mitochondrial-anchored protein ligase) (MAPL) (Putative NF-kappa-B-activating protein 266) (RING finger protein 218) (RING-type E3 ubiquitin transferase NFKB 1)

sequence:

opentargets:
axon [GO:0030424]; integral component of mitochondrial outer membrane [GO:0031307]; membrane [GO:0016020]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; peroxisome [GO:0005777]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; SUMO transferase activity [GO:0019789]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of JUN kinase activity [GO:0007257]; apoptotic process [GO:0006915]; cellular response to exogenous dsRNA [GO:0071360]; mitochondrial fission [GO:0000266]; mitochondrion localization [GO:0051646]; negative regulation of cell growth [GO:0030308]; negative regulation of chemokine (C-C motif) ligand 5 production [GO:0071650]; negative regulation of defense response to virus by host [GO:0050689]; negative regulation of innate immune response [GO:0045824]; negative regulation of mitochondrial fusion [GO:0010637]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]; positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization [GO:1904925]; positive regulation of dendrite extension [GO:1903861]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of protein sumoylation [GO:0033235]; protein destabilization [GO:0031648]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901028]; regulation of mitochondrion organization [GO:0010821]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. Peroxisome. Note=Transported in mitochondrion-derived vesicles from the mitochondrion to the peroxisome.


uniprotID: Q9NZR2
geneSymbol: LRP1B
length: 4599
go: ENSG00000168702;
snps: rs12990449 rs34488772 rs371536401 rs1878740 rs35546150 rs17386226
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Low-density lipoprotein receptor-related protein 1B (LRP-1B) (Low-density lipoprotein receptor-related protein-deleted in tumor) (LRP-DIT)

sequence:

opentargets:
integral component of membrane [GO:0016021]; receptor complex [GO:0043235]; calcium ion binding [GO:0005509]; protein transport [GO:0015031]; receptor-mediated endocytosis [GO:0006898]


uniprotID: Q7Z2Q7
geneSymbol: LRRC70
name: Leucine-rich repeat-containing protein 70 (Synleurin)
length: 622
go: ENSG00000186105;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P98164
geneSymbol: LRP2
reactome: R-HSA-196791;R-HSA-8856825;R-HSA-8856828;R-HSA-975634;
pdb: 2M0P;
name: Low-density lipoprotein receptor-related protein 2 (LRP-2) (Glycoprotein 330) (gp330) (Megalin)
length: 4655
go: ENSG00000081479;
drug: DB00798;DB00030;DB00071;DB00013;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon [GO:0030424]; brush border membrane [GO:0031526]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle membrane [GO:0030665]; dendrite [GO:0030425]; endocytic vesicle [GO:0030139]; endoplasmic reticulum [GO:0005783]; endosome lumen [GO:0031904]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; calcium ion binding [GO:0005509]; chaperone binding [GO:0051087]; drug binding [GO:0008144]; lipoprotein transporter activity [GO:0042954]; low-density lipoprotein particle receptor activity [GO:0005041]; SH3 domain binding [GO:0017124]; steroid hormone receptor binding [GO:0035258]; aorta development [GO:0035904]; cell proliferation [GO:0008283]; coronary artery morphogenesis [GO:0060982]; endocytosis [GO:0006897]; folate import across plasma membrane [GO:1904447]; forebrain development [GO:0030900]; lipid metabolic process [GO:0006629]; male gonad development [GO:0008584]; membrane organization [GO:0061024]; metal ion transport [GO:0030001]; negative regulation of BMP signaling pathway [GO:0030514]; neural tube closure [GO:0001843]; neuron projection arborization [GO:0140058]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of lysosomal protein catabolic process [GO:1905167]; positive regulation of neurogenesis [GO:0050769]; positive regulation of oligodendrocyte progenitor proliferation [GO:0070447]; pulmonary artery morphogenesis [GO:0061156]; receptor-mediated endocytosis [GO:0006898]; retinoid metabolic process [GO:0001523]; secondary heart field specification [GO:0003139]; sensory perception of sound [GO:0007605]; vagina development [GO:0060068]; ventricular compact myocardium morphogenesis [GO:0003223]; ventricular septum development [GO:0003281]; vitamin D metabolic process [GO:0042359]

snps:
rs2229263 rs34693334 rs34291900 rs36082715 rs2302691 rs17848149 rs4667596 rs2228168 rs80338747 rs17848169 rs2228171 rs11674973 rs3213760 rs199583537 rs2075252 rs4667591 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:23825075, ECO:0000269|PubMed:27798286}; Single-pass type I membrane protein {ECO:0000255}. Endosome lumen {ECO:0000250|UniProtKB:P98158}. Membrane, coated pit {ECO:0000250|UniProtKB:A2ARV4}. Cell projection, dendrite {ECO:0000250|UniProtKB:A2ARV4}. Cell projection, axon {ECO:0000250|UniProtKB:A2ARV4}. Note=Localizes to brush border membranes in the kidney. In the endolymphatic sac of the inner ear, located in the lumen of endosomes as a soluble form. {ECO:0000250|UniProtKB:P98158}.


uniprotID: Q6UXK5
geneSymbol: LRRN1
name: Leucine-rich repeat neuronal protein 1 (Neuronal leucine-rich repeat protein 1) (NLRR-1)
length: 716
go: ENSG00000175928;
snps: rs35362954 rs34611357
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; positive regulation of synapse assembly [GO:0051965]


uniprotID: Q6UWE0
geneSymbol: LRSAM1
reactome: R-HSA-983168;
length: 723
go: ENSG00000148356;
snps: rs1539567 rs759312530 rs886041051
name:
E3 ubiquitin-protein ligase LRSAM1 (EC 2.3.2.27) (Leucine-rich repeat and sterile alpha motif-containing protein 1) (RING-type E3 ubiquitin transferase LRSAM1) (Tsg101-associated ligase) (hTAL)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; autophagy [GO:0006914]; negative regulation of endocytosis [GO:0045806]; positive regulation of autophagosome assembly [GO:2000786]; positive regulation of xenophagy [GO:1904417]; protein autoubiquitination [GO:0051865]; protein catabolic process [GO:0030163]; protein polyubiquitination [GO:0000209]; ubiquitin-dependent endocytosis [GO:0070086]; viral budding [GO:0046755]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWE0-1; Sequence=Displayed; Name=2; IsoId=Q6UWE0-2; Sequence=VSP_012661; Name=3; IsoId=Q6UWE0-3; Sequence=VSP_012660; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15256501, ECO:0000269|PubMed:27615052}. Note=Displays a punctuate distribution and localizes to a submembranal ring (PubMed:15256501). Localizes to intracellular bacterial pathogens (PubMed:23245322). {ECO:0000269|PubMed:15256501, ECO:0000269|PubMed:23245322}.


uniprotID: Q9HBL6
geneSymbol: LRTM1
name: Leucine-rich repeat and transmembrane domain-containing protein 1
length: 345
go: ENSG00000144771;
opentargets: integral component of membrane [GO:0016021]; positive regulation of synapse assembly [GO:0051965]
snps: rs3806633 rs35540470
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=Q9HBL6-1; Sequence=Displayed; Name=2; IsoId=Q9HBL6-2; Sequence=VSP_023507; 


uniprotID: Q3MHD2
geneSymbol: LSM12
name: Protein LSM12 homolog
length: 195
go: ENSG00000161654;
opentargets: RNA metabolic process [GO:0016070]
snps: rs17854322 rs59168537
sequence:
MAAPPGEYFSVGSQVSCRTCQEQRLQGEVVAFDYQSKMLALKCPSSSGKPNHADILLINLQYVSEVEIINDRTETPPPLASLNVSKLASKARTEKEEKLSQAYAISAGVSLEGQQLFQTIHKTIKDCKWQEKNIVVMEEVVITPPYQVENCKGKEGSALSHVRKIVEKHFRDVESQKILQRSQAQQPQKEAALSS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3MHD2-1; Sequence=Displayed; Name=2; IsoId=Q3MHD2-2; Sequence=VSP_028241; Note=No experimental confirmation available.; 


uniprotID: P62312
geneSymbol: LSM6
reactome: R-HSA-430039;R-HSA-72163;
pdb: 3JCR;5O9Z;
name: U6 snRNA-associated Sm-like protein LSm6
sequence: MSLRKQTPSDFLKQIIGRPVVVKLNSGVDYRGVLACLDGYMNIALEQTEEYVNGQLKNKYGDAFIRGNNVLYISTQKRRM
length: 80
go: ENSG00000164167;
drug: DB04272;DB02745;DB03685;
opentargets:
cytosol [GO:0005829]; Lsm2-8 complex [GO:0120115]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; small nuclear ribonucleoprotein complex [GO:0030532]; small nucleolar ribonucleoprotein complex [GO:0005732]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U6 snRNP [GO:0005688]; RNA binding [GO:0003723]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; maturation of SSU-rRNA [GO:0030490]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; tRNA processing [GO:0008033]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12515382}. Nucleus {ECO:0000269|PubMed:10523320, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166}.


uniprotID: P33241
geneSymbol: LSP1
pdb: 3BH8;4NO0;4NO2;
length: 339
go: ENSG00000130592;
snps: rs621679 rs11545725 rs1803928
location: SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side.
name:
Lymphocyte-specific protein 1 (47 kDa actin-binding protein) (52 kDa phosphoprotein) (pp52) (Lymphocyte-specific antigen WP34)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; cellular defense response [GO:0006968]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P33241-1; Sequence=Displayed; Name=2; IsoId=P33241-2; Sequence=VSP_045655; Note=No experimental confirmation available.; Name=3; IsoId=P33241-3; Sequence=VSP_045983; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9HCC9
geneSymbol: ZFYVE28
name: Lateral signaling target protein 2 homolog (hLst2) (Zinc finger FYVE domain-containing protein 28)
length: 887
go: ENSG00000159733;
snps: rs17768776 rs661301
sequence:

opentargets:
cytosol [GO:0005829]; early endosome membrane [GO:0031901]; metal ion binding [GO:0046872]; phosphatidylinositol-3-phosphate binding [GO:0032266]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9HCC9-1; Sequence=Displayed; Name=2; IsoId=Q9HCC9-2; Sequence=VSP_037616; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCC9-3; Sequence=VSP_037615; Note=No experimental confirmation available.; Name=4; IsoId=Q9HCC9-4; Sequence=VSP_037615, VSP_037616; Note=No experimental confirmation available.; Name=5; IsoId=Q9HCC9-5; Sequence=VSP_037614; Note=No experimental confirmation available.; Name=6; IsoId=Q9HCC9-6; Sequence=VSP_045805, VSP_045806; Note=No experimental confirmation available.; Name=7; IsoId=Q9HCC9-7; Sequence=VSP_046092, VSP_046093, VSP_046094; Note=No experimental confirmation available.; Name=8; IsoId=Q9HCC9-8; Sequence=VSP_037615, VSP_046379; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19460345}. Early endosome membrane {ECO:0000269|PubMed:19460345}. Note=Localizes to early endosome membrane in absence of Lys-87 monoubiquitination. Localizes to cytosol when monoubiquitinated.


uniprotID: Q16873
geneSymbol: LTC4S
reactome: R-HSA-2142688;R-HSA-2142691;R-HSA-2142700;R-HSA-9026762;R-HSA-9026766;
pdb: 2PNO;2UUH;2UUI;3B29;3HKK;3LEO;3PCV;4BPM;4J7T;4J7Y;4JC7;4JCZ;4JRZ;4WAB;5HV9;
name: Leukotriene C4 synthase (LTC4 synthase) (EC 4.4.1.20) (Leukotriene-C(4) synthase)
length: 150
go: ENSG00000213316;
drug: DB00143;
snps: rs11541078
sequence:
MKDEVALLAAVTLLGVLLQAYFSLQVISARRAFRVSPPLTTGPPEFERVYRAQVNCSEYFPLFLATLWVAGIFFHEGAAALCGLVYLFARLRYFQGYARSAQLRLAPLYASARALWLLVALAALGLLAHFLPAALRAALLGRLRTLLPWA

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nuclear envelope [GO:0005635]; nuclear outer membrane [GO:0005640]; enzyme activator activity [GO:0008047]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; identical protein binding [GO:0042802]; leukotriene-C4 synthase activity [GO:0004464]; lipid binding [GO:0008289]; leukotriene biosynthetic process [GO:0019370]; leukotriene metabolic process [GO:0006691]; long-chain fatty acid biosynthetic process [GO:0042759]

location:
SUBCELLULAR LOCATION: Nucleus outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.


