# annotation

uniprotID: P21709
geneSymbol: EPHA1
reactome: R-HSA-2682334;R-HSA-2892247;R-HSA-3928663;R-HSA-3928665;
pdb: 2K1K;2K1L;3HIL;3KKA;
length: 976
go: ENSG00000146904;
snps: rs4725617 rs56006153 rs11768549 rs35719334 rs34178823 rs34372369 rs56244405 rs6967117
name:
Ephrin type-A receptor 1 (hEpha1) (EC 2.7.10.1) (EPH tyrosine kinase) (EPH tyrosine kinase 1) (Erythropoietin-producing hepatoma receptor) (Tyrosine-protein kinase receptor EPH)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; activation of GTPase activity [GO:0090630]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell migration [GO:0030336]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of signal transduction [GO:0009968]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of stress fiber assembly [GO:0051496]; protein autophosphorylation [GO:0046777]; regulation of GTPase activity [GO:0043087]; somatic stem cell population maintenance [GO:0035019]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P21709-1; Sequence=Displayed; Name=2; IsoId=P21709-2; Sequence=VSP_056010, VSP_056013; Name=3; IsoId=P21709-3; Sequence=VSP_056011, VSP_056012; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19118217}; Single-pass type I membrane protein {ECO:0000269|PubMed:19118217}.


uniprotID: Q9H8M9
geneSymbol: EVA1A
reactome: R-HSA-381426;R-HSA-8957275;
name: Protein eva-1 homolog A (Protein FAM176A) (Transmembrane protein 166)
length: 152
go: ENSG00000115363;
snps: rs11126472
sequence:
MRLPLSHSPEHVEMALLSNILAAYSFVSENPERAALYFVSGVCIGLVLTLAALVIRISCHTDCRRRPGKKFLQDRESSSDSSDSEDGSEDTVSDLSVRRHRRFERTLNKNVFTSAEELERAQRLEERERIIREIWMNGQPEVPGTRSLNRYY

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17492404}; Single-pass membrane protein {ECO:0000269|PubMed:17492404}. Lysosome membrane {ECO:0000269|PubMed:17492404}; Single-pass membrane protein {ECO:0000269|PubMed:17492404}.


uniprotID: Q8IVF4
geneSymbol: DNAH10
length: 4471
go: ENSG00000197653;
snps: rs11057353 rs10846559 rs34934281 rs7969937 rs35685787 rs33935373 rs7977449 rs11835416
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
name:
Dynein heavy chain 10, axonemal (Axonemal beta dynein heavy chain 10) (Ciliary dynein heavy chain 10)

sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; dynein complex [GO:0030286]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVF4-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8IVF4-2; Sequence=VSP_033518, VSP_033519; 


uniprotID: Q658K8
geneSymbol: EEF1DP3
name: Putative elongation factor 1-delta-like protein (Putative EF-1-delta-like pseudogene 3 protein)
length: 133
opentargets: translation elongation factor activity [GO:0003746]
sequence:
MATNFLVGEKIWFHKFKYGDAERRFYEQMNGPVAGASLQEASMILHDIARARENIPKSLAGSLGPGASSGPSGDHSELVVRIASLEVDNQRDLAERAGEELARPLGHSPADPAHVSHAPSGAPGQEASHTSRG


uniprotID: P29692
geneSymbol: EEF1D
reactome: R-HSA-156842;
pdb: 2MVM;2MVN;2N51;5JPO;
name: Elongation factor 1-delta (EF-1-delta) (Antigen NY-CO-4)
length: 281
go: ENSG00000104529;
location: SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:21597468}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation elongation factor 1 complex [GO:0005853]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; cadherin binding [GO:0045296]; DNA binding [GO:0003677]; heat shock protein binding [GO:0031072]; translation elongation factor activity [GO:0003746]; translation factor activity, RNA binding [GO:0008135]; cellular response to ionizing radiation [GO:0071479]; mRNA transcription [GO:0009299]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of cell death [GO:0010941]; translational elongation [GO:0006414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P29692-1; Sequence=Displayed; Name=2; Synonyms=eEF1BdeltaL; IsoId=P29692-2; Sequence=VSP_037884; Name=3; IsoId=P29692-3; Sequence=VSP_043812; Name=4; IsoId=P29692-4; Sequence=VSP_045960; Note=No experimental confirmation available.; 


uniprotID: O75461
geneSymbol: E2F6
reactome: R-HSA-539107;R-HSA-8953750;
name: Transcription factor E2F6 (E2F-6)
length: 281
go: ENSG00000169016;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75461-1; Sequence=Displayed; Name=2; IsoId=O75461-2; Sequence=VSP_008771; Name=3; IsoId=O75461-3; Sequence=VSP_054754; 


uniprotID: Q6NXP0
geneSymbol: EFCAB12
name: EF-hand calcium-binding domain-containing protein 12
length: 572
go: ENSG00000172771;
opentargets: calcium ion binding [GO:0005509]
snps: rs58932597 rs3774787 rs6790768 rs9836111 rs12637267
sequence:


uniprotID: O95208
geneSymbol: EPN2
reactome: R-HSA-8856825;R-HSA-8856828;
name: Epsin-2 (EPS-15-interacting protein 2)
length: 641
go: ENSG00000072134;
snps: rs6587220 rs1062727 rs1062727
sequence:

opentargets:
clathrin coat of endocytic vesicle [GO:0030128]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; cadherin binding [GO:0045296]; lipid binding [GO:0008289]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; negative regulation of sprouting angiogenesis [GO:1903671]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; positive regulation of Notch signaling pathway [GO:0045747]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=2b; IsoId=O95208-1; Sequence=Displayed; Name=2; Synonyms=2a; IsoId=O95208-2; Sequence=VSP_009155; Name=3; IsoId=O95208-3; Sequence=VSP_009154, VSP_009155; Note=No experimental confirmation available. {ECO:0000244|PubMed:17081983, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:24275569}; Name=4; IsoId=O95208-5; Sequence=VSP_047003; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10567358}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:10567358}. Note=In punctate structures throughout the cell, associated with clathrin-coated vesicles, and particularly concentrated in the region of the Golgi complex.


uniprotID: O15197
geneSymbol: EPHB6
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
name: Ephrin type-B receptor 6 (HEP) (Tyrosine-protein kinase-defective receptor EPH-6)
length: 1021
snps: rs8177173 rs8177143 rs55728646 rs8177146 rs35189999 rs8177175 rs35984674
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ephrin receptor activity [GO:0005003]; protein tyrosine kinase activity [GO:0004713]; signaling receptor activity [GO:0038023]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; cell differentiation [GO:0030154]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15197-1; Sequence=Displayed; Name=2; IsoId=O15197-2; Sequence=VSP_037496; Name=3; Synonyms=EphB6v; IsoId=O15197-3; Sequence=VSP_037497, VSP_037498; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.


uniprotID: P38117
geneSymbol: ETFB
reactome: R-HSA-611105;R-HSA-8876725;
pdb: 1EFV;1T9G;2A1T;2A1U;
name: Electron transfer flavoprotein subunit beta (Beta-ETF)
length: 255
go: ENSG00000105379;
snps: rs104894678 rs1130426 rs104894677
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P38117-1; Sequence=Displayed; Name=2; IsoId=P38117-2; Sequence=VSP_017850; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:25023281, ECO:0000305|PubMed:8504797}.


uniprotID: Q8N693
geneSymbol: ESX1
length: 406
go: ENSG00000123576;
snps: rs9697856
name:
Homeobox protein ESX1 (Extraembryonic, spermatogenesis, homeobox 1) [Cleaved into: Homeobox protein ESX1-N; Homeobox protein ESX1-C]

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of cell cycle [GO:0051726]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15235584}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:15235584}. Note=ESXR1-N localizes specifically to the nucleus while ESXR1-C localizes specifically to the cytoplasm.


uniprotID: A0FGR8
geneSymbol: ESYT2
reactome: R-HSA-1660662;
pdb: 2DMG;4NPJ;4NPK;4P42;
name: Extended synaptotagmin-2 (E-Syt2) (Chr2Syt)
length: 921
go: ENSG00000117868;
snps: rs13233513 rs2305473
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of plasma membrane [GO:0005887]; intrinsic component of endoplasmic reticulum membrane [GO:0031227]; membrane [GO:0016020]; organelle membrane contact site [GO:0044232]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; identical protein binding [GO:0042802]; phosphatidylcholine binding [GO:0031210]; phosphatidylethanolamine binding [GO:0008429]; phosphatidylinositol binding [GO:0035091]; endocytosis [GO:0006897]; endoplasmic reticulum-plasma membrane tethering [GO:0061817]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A0FGR8-1; Sequence=Displayed; Name=2; IsoId=A0FGR8-2; Sequence=VSP_023239; Note=No experimental confirmation available.; Name=4; IsoId=A0FGR8-4; Sequence=VSP_023238, VSP_023241, VSP_023242; Note=No experimental confirmation available.; Name=5; IsoId=A0FGR8-5; Sequence=VSP_023236, VSP_023240; Note=No experimental confirmation available.; Name=6; IsoId=A0FGR8-6; Sequence=VSP_038324; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17360437, ECO:0000269|PubMed:20833364, ECO:0000269|PubMed:23791178, ECO:0000269|PubMed:29469807}; Peripheral membrane protein {ECO:0000269|PubMed:17360437}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:17360437, ECO:0000269|PubMed:23791178, ECO:0000269|PubMed:29469807}; Multi-pass membrane protein {ECO:0000305}. Note=Detected at sites of contact between the endoplasmic reticulum membrane and the cell membrane (PubMed:29469807, PubMed:23791178). Recruited to the cell membrane via the third C2 domain (PubMed:17360437). {ECO:0000269|PubMed:17360437, ECO:0000269|PubMed:23791178, ECO:0000269|PubMed:29469807}.


uniprotID: P55265
geneSymbol: ADAR
reactome: R-HSA-75102;R-HSA-77042;R-HSA-909733;
pdb: 1QBJ;1QGP;1XMK;2ACJ;2GXB;2L54;2MDR;3F21;3F22;3F23;3IRQ;3IRR;5ZU1;5ZUO;5ZUP;
length: 1226
go: ENSG00000160710;
name:
Double-stranded RNA-specific adenosine deaminase (DRADA) (EC 3.5.4.37) (136 kDa double-stranded RNA-binding protein) (p136) (Interferon-inducible protein 4) (IFI-4) (K88DSRBP)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; supraspliceosomal complex [GO:0044530]; DNA binding [GO:0003677]; double-stranded RNA adenosine deaminase activity [GO:0003726]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; tRNA-specific adenosine deaminase activity [GO:0008251]; adenosine to inosine editing [GO:0006382]; base conversion or substitution editing [GO:0016553]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; miRNA loading onto RISC involved in gene silencing by miRNA [GO:0035280]; mRNA processing [GO:0006397]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; positive regulation of viral genome replication [GO:0045070]; pre-miRNA processing [GO:0031054]; protein export from nucleus [GO:0006611]; protein import into nucleus [GO:0006606]; response to interferon-alpha [GO:0035455]; response to virus [GO:0009615]; RNA processing [GO:0006396]; type I interferon signaling pathway [GO:0060337]

snps:
rs1466731 rs145588689 rs2229857 rs17843865 rs144119808 rs398122893 rs398122897 rs398122892 rs28936680 rs398122896 rs398122822 rs398122895 rs398122894 rs1044845711 rs28936681 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=1; Synonyms=ADAR-a, ADAR1L, p150; IsoId=P55265-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=ADAR-b; IsoId=P55265-2; Sequence=VSP_008874; Note=Produced by alternative splicing of isoform 1.; Name=3; Synonyms=ADAR-c; IsoId=P55265-3; Sequence=VSP_008873, VSP_008874; Note=Produced by alternative splicing of isoform 1.; Name=4; IsoId=P55265-4; Sequence=VSP_008872; Note=Produced by alternative splicing of isoform 1. No experimental confirmation available. The N-terminus has been derived from EST and genomic sequences. {ECO:0000305}; Name=5; Synonyms=ADAR1S, p110; IsoId=P55265-5; Sequence=VSP_019235; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:7565688}. Nucleus {ECO:0000269|PubMed:24753571, ECO:0000269|PubMed:7565688}. Note=Shuttles between the cytoplasm and nucleus (PubMed:7565688, PubMed:24753571). Nuclear import is mediated by TNPO1 (PubMed:24753571). {ECO:0000269|PubMed:24753571, ECO:0000269|PubMed:7565688}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:19124606}. Nucleus {ECO:0000269|PubMed:19124606, ECO:0000269|PubMed:7565688}. Nucleus, nucleolus {ECO:0000269|PubMed:12665561}. Note=Predominantly nuclear but can shuttle between nucleus and cytoplasm. TNPO1 can mediate its nuclear import whereas XPO5 can mediate its nuclear export. {ECO:0000269|PubMed:19124606}.


uniprotID: Q96PT4
geneSymbol: DUX3
name: Putative double homeobox protein 3
length: 197
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MPAEVHGSPPASLCPCPSVKFRPGLPAMALLTALDDTLPEEAQGPGRRMILLSTPSQSDALRACFERNLYPGIATKEQLAQGIDIPEPRVQIWFQNERSCQLRQHRRQSRPWPGRRDPQKGRRKRTAITGSQTALLLRAFEKDRFPGIPAREELARETGLPESRIQLWFQNRRARHWGQSGRAPTQASIRCNAAPIG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PT4-1; Sequence=Displayed; Name=2; IsoId=Q96PT4-2; Sequence=VSP_020958; 


uniprotID: P0DPD7
geneSymbol: EEF1AKMT4
pdb: 2PXX;
name: EEF1A lysine methyltransferase 4 (EC 2.1.1.-)
length: 255
opentargets: methyltransferase activity [GO:0008168]; protein-lysine N-methyltransferase activity [GO:0016279]
snps: rs7633387
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=EEF1AKMT4-1; IsoId=P0DPD7-4, O60344-4; Sequence=Displayed; Name=EEF1AKMT4-ECE2-1; Synonyms=ECE-2A; IsoId=P0DPD8-1, O60344-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an EEF1AKMT4-ECE2 fusion protein. {ECO:0000305}; 


uniprotID: Q9Y2G0
geneSymbol: EFR3B
name: Protein EFR3 homolog B
length: 817
go: ENSG00000084710;
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; phosphatidylinositol phosphorylation [GO:0046854]; protein localization to plasma membrane [GO:0072659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2G0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2G0-2; Sequence=VSP_029806; Name=3; IsoId=Q9Y2G0-3; Sequence=VSP_029807; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}; Lipid-anchor {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}. Cytoplasm, cytosol {ECO:0000269|PubMed:25380825}. Note=Palmitoylation anchors the protein to the plasma membrane (PubMed:23229899, PubMed:25380825). A small amount is observed in the cytosol (PubMed:25380825). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}.


uniprotID: P02771
geneSymbol: AFP
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 3MRK;
name: Alpha-fetoprotein (Alpha-1-fetoprotein) (Alpha-fetoglobulin)
length: 609
go: ENSG00000081051;
snps: rs35765619 rs7790
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; metal ion binding [GO:0046872]; cellular protein metabolic process [GO:0044267]; ovulation from ovarian follicle [GO:0001542]; post-translational protein modification [GO:0043687]; progesterone metabolic process [GO:0042448]; SMAD protein signal transduction [GO:0060395]


uniprotID: Q9NZW4
geneSymbol: DSPP
reactome: R-HSA-3000178;
length: 1301
go: ENSG00000152591;
snps: rs121912988 rs121912989 rs121912986 rs121912987 rs36094464 rs3750025
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
name:
Dentin sialophosphoprotein [Cleaved into: Dentin phosphoprotein (Dentin phosphophoryn) (DPP); Dentin sialoprotein (DSP)]

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; biomineral tissue development [GO:0031214]; cartilage development [GO:0051216]; cellular response to cell-matrix adhesion [GO:0071460]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to hormone stimulus [GO:0032870]; dentinogenesis [GO:0097187]; extracellular matrix organization [GO:0030198]; hair follicle maturation [GO:0048820]; multicellular organism development [GO:0007275]; odontoblast differentiation [GO:0071895]; ossification [GO:0001503]; positive regulation of enamel mineralization [GO:0070175]; regulation of odontoblast differentiation [GO:1901329]; response to carbohydrate [GO:0009743]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; response to transforming growth factor beta [GO:0071559]; skeletal system development [GO:0001501]


uniprotID: O43921
geneSymbol: EFNA2
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
pdb: 2WO3;
name: Ephrin-A2 (EPH-related receptor tyrosine kinase ligand 6) (LERK-6) (HEK7 ligand) (HEK7-L)
length: 213
go: ENSG00000099617;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; neuromuscular junction [GO:0031594]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; ephrin receptor binding [GO:0046875]; axon guidance [GO:0007411]; bone remodeling [GO:0046849]; cell-cell signaling [GO:0007267]; ephrin receptor signaling pathway [GO:0048013]; olfactory bulb development [GO:0021772]; osteoclast differentiation [GO:0030316]


uniprotID: Q15768
geneSymbol: EFNB3
reactome: R-HSA-2682334;R-HSA-3928662;R-HSA-3928664;R-HSA-3928665;
pdb: 4BKF;
length: 340
go: ENSG00000108947;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Ephrin-B3 (EPH-related receptor transmembrane ligand ELK-L3) (EPH-related receptor tyrosine kinase ligand 8) (LERK-8)

sequence:

opentargets:
glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; ephrin receptor binding [GO:0046875]; protein tyrosine kinase activity [GO:0004713]; transmembrane-ephrin receptor activity [GO:0005005]; virus receptor activity [GO:0001618]; adult walking behavior [GO:0007628]; axon choice point recognition [GO:0016198]; axon guidance [GO:0007411]; cell-cell signaling [GO:0007267]; ephrin receptor signaling pathway [GO:0048013]; negative regulation of axonogenesis [GO:0050771]; nervous system development [GO:0007399]; T cell costimulation [GO:0031295]; trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission [GO:0099557]


uniprotID: Q92630
geneSymbol: DYRK2
reactome: R-HSA-6804756;
pdb: 3K2L;3KVW;4AZF;5LXC;5LXD;5ZTN;
name: Dual specificity tyrosine-phosphorylation-regulated kinase 2 (EC 2.7.12.1)
length: 601
go: ENSG00000127334;
snps: rs35139851 rs34166200 rs56293072 rs35688869 rs55774594
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates into the nucleus following DNA damage.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; ubiquitin ligase complex [GO:0000151]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; cellular response to DNA damage stimulus [GO:0006974]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; positive regulation of glycogen biosynthetic process [GO:0045725]; protein phosphorylation [GO:0006468]; regulation of signal transduction by p53 class mediator [GO:1901796]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92630-1; Sequence=Displayed; Name=2; IsoId=Q92630-2; Sequence=VSP_026115; 


uniprotID: P0CJ87
geneSymbol: DUX4L4
name: Double homeobox protein 4-like protein 4
length: 422
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:


uniprotID: P43003
geneSymbol: SLC1A3
reactome: R-HSA-210455;R-HSA-210500;R-HSA-425393;R-HSA-5619062;
pdb: 5LLM;5LLU;5LM4;5MJU;
length: 542
go: ENSG00000079215;
drug: DB00142;
snps: rs2032892 rs137852619
name:
Excitatory amino acid transporter 1 (Sodium-dependent glutamate/aspartate transporter 1) (GLAST-1) (Solute carrier family 1 member 3)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; glutamate binding [GO:0016595]; glutamate:sodium symporter activity [GO:0015501]; high-affinity glutamate transmembrane transporter activity [GO:0005314]; L-glutamate transmembrane transporter activity [GO:0005313]; metal ion binding [GO:0046872]; auditory behavior [GO:0031223]; cell morphogenesis involved in neuron differentiation [GO:0048667]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; cranial nerve development [GO:0021545]; D-aspartate import across plasma membrane [GO:0070779]; gamma-aminobutyric acid biosynthetic process [GO:0009449]; glutamate biosynthetic process [GO:0006537]; glutamate secretion [GO:0014047]; ion transport [GO:0006811]; L-aspartate import across plasma membrane [GO:0140009]; L-glutamate import [GO:0051938]; L-glutamate import across plasma membrane [GO:0098712]; L-glutamate transmembrane transport [GO:0015813]; neuromuscular process controlling balance [GO:0050885]; neurotransmitter uptake [GO:0001504]; positive regulation of synaptic transmission [GO:0050806]; potassium ion transmembrane transport [GO:0071805]; response to antibiotic [GO:0046677]; response to light stimulus [GO:0009416]; response to wounding [GO:0009611]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43003-1; Sequence=Displayed; Name=2; Synonyms=EAAT1ex9skip; IsoId=P43003-2; Sequence=VSP_043913; Note=Expressed throughout the CNS, both in gray matter and axonal tracts, at levels ranging between 10% and 20% of isoform 1. Localizes to ER, has no functional glutamate uptake activity, and exerts a dominant negative effect isoform 1.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20477940, ECO:0000269|PubMed:26690923, ECO:0000269|PubMed:28032905, ECO:0000269|PubMed:7521911, ECO:0000269|PubMed:8123008}; Multi-pass membrane protein {ECO:0000269|PubMed:28424515}.


uniprotID: Q6RFH8
geneSymbol: DUX4L9
length: 374
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:19829708}.
name:
Double homeobox protein 4C (Double homeobox protein 4, centromeric) (DUX4c) (Double homeobox protein 4-like protein 9)

sequence:

opentargets:
nucleus [GO:0005634]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; cell proliferation [GO:0008283]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression [GO:0010468]


uniprotID: P60608
geneSymbol: ERVFC1-1
length: 527
location: SUBCELLULAR LOCATION: Virion.
name:
Endogenous retrovirus group FC1 member 1 Env polyprotein (Envelope polyprotein) (Fc2deltaenv) (HERV-F(c)2_7q36.2 provirus ancestral Env polyprotein) [Includes: Surface protein (SU); Truncated transmembrane protein (TM)]

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Ribosomal frameshifting; Named isoforms=1;  Comment=A ribosomal frameshift due to a slippery site present at the end of the gene may lead to a longer protein.; Name=1; IsoId=P60608-1; Sequence=Displayed; 


uniprotID: Q9BUY7
geneSymbol: EFCAB11
name: EF-hand calcium-binding domain-containing protein 11
length: 163
go: ENSG00000140025;
snps: rs35435801 rs34486581 rs34911716
sequence:
MFFSEARARSRTWEASPSEHRKWVEVFKACDEDHKGYLSREDFKTAVVMLFGYKPSKIEVDSVMSSINPNTSGILLEGFLNIVRKKKEAQRYRNEVRHIFTAFDTYYRGFLTLEDFKKAFRQVAPKLPERTVLEVFREVDRDSDGHVSFRDFEYALNYGQKEA

opentargets:
centrosome [GO:0005813]; half bridge of spindle pole body [GO:0005825]; nucleus [GO:0005634]; transcription export complex 2 [GO:0070390]; calcium ion binding [GO:0005509]; microtubule binding [GO:0008017]; calcium-mediated signaling [GO:0019722]; microtubule nucleation [GO:0007020]; mitotic spindle pole body duplication [GO:1903087]; spindle pole body duplication [GO:0030474]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BUY7-1; Sequence=Displayed; Name=2; IsoId=Q9BUY7-2; Sequence=VSP_025100; Name=3; IsoId=Q9BUY7-3; Sequence=VSP_025100, VSP_025101; Name=4; IsoId=Q9BUY7-4; Sequence=VSP_041089, VSP_041090; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=5; IsoId=Q9BUY7-5; Sequence=VSP_054591; Note=No experimental confirmation available.; Name=6; IsoId=Q9BUY7-6; Sequence=VSP_055729; Note=Gene prediction based on EST data.; 


uniprotID: Q96AZ1
geneSymbol: EEF1AKMT3
pdb: 4QPN;
length: 226
go: ENSG00000123427;
snps: rs34913183
name:
EEF1A lysine methyltransferase 3 (EC 2.1.1.-) (Hepatocellular carcinoma-associated antigen 557a) (Methyltransferase-like protein 21B) (Protein-lysine methyltransferase METTL21B)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; intracellular [GO:0005622]; protein-containing complex [GO:0032991]; heat shock protein binding [GO:0031072]; methyltransferase activity [GO:0008168]; protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine methylation [GO:0018022]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96AZ1-1; Sequence=Displayed; Name=2; IsoId=Q96AZ1-2; Sequence=VSP_026270, VSP_026271; Name=3; IsoId=Q96AZ1-3; Sequence=VSP_026268, VSP_026269; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23349634, ECO:0000269|PubMed:28108655}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:28108655}.


uniprotID: P16591
geneSymbol: FER
reactome: R-HSA-1433557;
pdb: 2KK6;
length: 822
go: ENSG00000151422;
snps: rs35150210 rs33940843 rs2229086 rs34259824 rs34204308 rs56097357
name:
Tyrosine-protein kinase Fer (EC 2.7.10.2) (Feline encephalitis virus-related kinase FER) (Fujinami poultry sarcoma/Feline sarcoma-related protein Fer) (Proto-oncogene c-Fer) (Tyrosine kinase 3) (p94-Fer)

sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; nucleus [GO:0005634]; ATP binding [GO:0005524]; epidermal growth factor receptor binding [GO:0005154]; lipid binding [GO:0008289]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein phosphatase 1 binding [GO:0008157]; protein tyrosine kinase activity [GO:0004713]; actin cytoskeleton reorganization [GO:0031532]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; cell-cell adhesion mediated by cadherin [GO:0044331]; cellular response to insulin stimulus [GO:0032869]; cellular response to macrophage colony-stimulating factor stimulus [GO:0036006]; cellular response to reactive oxygen species [GO:0034614]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; diapedesis [GO:0050904]; extracellular matrix-cell signaling [GO:0035426]; Fc-epsilon receptor signaling pathway [GO:0038095]; insulin receptor signaling pathway via phosphatidylinositol 3-kinase [GO:0038028]; interleukin-6-mediated signaling pathway [GO:0070102]; intracellular signal transduction [GO:0035556]; Kit signaling pathway [GO:0038109]; microtubule cytoskeleton organization [GO:0000226]; mitotic cell cycle [GO:0000278]; negative regulation of mast cell activation involved in immune response [GO:0033007]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cell proliferation [GO:0042127]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; regulation of fibroblast migration [GO:0010762]; regulation of lamellipodium assembly [GO:0010591]; regulation of mast cell degranulation [GO:0043304]; regulation of protein phosphorylation [GO:0001932]; response to lipopolysaccharide [GO:0032496]; response to platelet-derived growth factor [GO:0036119]; substrate adhesion-dependent cell spreading [GO:0034446]; tyrosine phosphorylation of STAT protein [GO:0007260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; Synonyms=p94; IsoId=P16591-1; Sequence=Displayed; Name=2; IsoId=P16591-2; Sequence=VSP_041765; Name=3; Synonyms=FerT, p47; IsoId=P16591-3; Sequence=VSP_043846, VSP_043847; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection. Cell junction. Membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Cytoplasm, cell cortex. Note=Associated with the chromatin. Detected on microtubules in polarized and motile vascular endothelial cells. Colocalizes with F-actin at the cell cortex. Colocalizes with PECAM1 and CTNND1 at nascent cell-cell contacts.


uniprotID: Q08426
geneSymbol: EHHADH
reactome: R-HSA-390247;R-HSA-9033241;
length: 723
go: ENSG00000113790;
drug: DB00157;
location: SUBCELLULAR LOCATION: Peroxisome.
name:
Peroxisomal bifunctional enzyme (PBE) (PBFE) [Includes: Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase (EC 4.2.1.17) (EC 5.3.3.8); 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)]

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; 3-hydroxyacyl-CoA dehydrogenase activity [GO:0003857]; dodecenoyl-CoA delta-isomerase activity [GO:0004165]; enoyl-CoA hydratase activity [GO:0004300]; enzyme binding [GO:0019899]; long-chain-enoyl-CoA hydratase activity [GO:0016508]; signaling receptor binding [GO:0005102]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; internal protein amino acid acetylation [GO:0006475]; protein targeting to peroxisome [GO:0006625]

snps:
rs398124646 rs1062551 rs1062552 rs1062553 rs2302819 rs1062555 rs1042437 rs1042438 rs11919970 rs11927618 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08426-1; Sequence=Displayed; Name=2; IsoId=Q08426-2; Sequence=VSP_042811; 


uniprotID: P14138
geneSymbol: EDN3
reactome: R-HSA-375276;R-HSA-416476;
name: Endothelin-3 (ET-3) (Preproendothelin-3) (PPET3)
length: 238
go: ENSG00000124205;
snps: rs11570255 rs752400458 rs74315384 rs11570351
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; endothelin B receptor binding [GO:0031708]; hormone activity [GO:0005179]; signaling receptor binding [GO:0005102]; blood circulation [GO:0008015]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular magnesium ion homeostasis [GO:0010961]; G protein-coupled receptor signaling pathway [GO:0007186]; inositol phosphate-mediated signaling [GO:0048016]; melanocyte differentiation [GO:0030318]; multicellular organism development [GO:0007275]; neural crest cell migration [GO:0001755]; neuron differentiation [GO:0030182]; neutrophil chemotaxis [GO:0030593]; peptide hormone secretion [GO:0030072]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of heart rate [GO:0010460]; positive regulation of hormone secretion [GO:0046887]; positive regulation of leukocyte chemotaxis [GO:0002690]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of potassium ion transmembrane transport [GO:1901381]; regulation of developmental pigmentation [GO:0048070]; regulation of gene expression [GO:0010468]; regulation of systemic arterial blood pressure by endothelin [GO:0003100]; regulation of vasoconstriction [GO:0019229]; signal transduction [GO:0007165]; vasoconstriction [GO:0042310]; vein smooth muscle contraction [GO:0014826]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P14138-1; Sequence=Displayed; Name=Short; IsoId=P14138-2; Sequence=VSP_001445; Name=3; IsoId=P14138-3; Sequence=VSP_043139; 


uniprotID: Q96AC1
geneSymbol: FERMT2
reactome: R-HSA-446353;
pdb: 2LGX;2LKO;2MSU;4F7H;
length: 680
go: ENSG00000073712;
name:
Fermitin family homolog 2 (Kindlin-2) (Mitogen-inducible gene 2 protein) (MIG-2) (Pleckstrin homology domain-containing family C member 1) (PH domain-containing family C member 1)

sequence:

opentargets:
cell cortex [GO:0005938]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; focal adhesion [GO:0005925]; I band [GO:0031674]; lamellipodium membrane [GO:0031258]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; cell junction assembly [GO:0034329]; cell-matrix adhesion [GO:0007160]; focal adhesion assembly [GO:0048041]; integrin activation [GO:0033622]; integrin-mediated signaling pathway [GO:0007229]; protein localization to membrane [GO:0072657]; regulation of cell shape [GO:0008360]; substrate adhesion-dependent cell spreading [GO:0034446]; transforming growth factor beta receptor signaling pathway [GO:0007179]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96AC1-1; Sequence=Displayed; Name=2; IsoId=Q96AC1-2; Sequence=VSP_008783, VSP_008784, VSP_008785; Note=May be due to an exon inclusion and an intron retention.; Name=3; IsoId=Q96AC1-3; Sequence=VSP_008783; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, stress fiber. Cell junction, focal adhesion. Membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250}. Cell surface {ECO:0000250}. Note=Colocalizes with actin stress fibers at cell-ECM focal adhesion sites. Colocalizes with ITGB3 at lamellipodia at the leading edge of spreading cells. Binds to membranes that contain phosphatidylinositides.


uniprotID: Q8NCM8
geneSymbol: DYNC2H1
reactome: R-HSA-5610787;R-HSA-5620924;
pdb: 4RH7;
length: 4307
go: ENSG00000187240;
name:
Cytoplasmic dynein 2 heavy chain 1 (Cytoplasmic dynein 2 heavy chain) (Dynein cytoplasmic heavy chain 2) (Dynein heavy chain 11) (hDHC11) (Dynein heavy chain isotype 1B)

sequence:

opentargets:
axoneme [GO:0005930]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasmic dynein complex [GO:0005868]; dynein complex [GO:0030286]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; motor activity [GO:0003774]; cilium assembly [GO:0060271]; Golgi organization [GO:0007030]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]; multicellular organism development [GO:0007275]

snps:
rs771511132 rs12803695 rs12146610 rs397514637 rs17301182 rs374073337 rs17099969 rs137853030 rs7358374 rs12794914 rs189806840 rs137853028 rs17301750 rs688906 rs745870321 rs763571787 rs137853033 rs137853035 rs1202784860 rs137853025 rs137853031 rs750249486 rs747348765 rs137853034 rs781326398 rs397514636 rs397514635 rs1060501431 rs589623 rs137853027 rs368631447 rs10895391 rs754753584 rs752554582 rs201479015 rs4754914 rs1793493 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCM8-1; Sequence=Displayed; Name=2; IsoId=Q8NCM8-2; Sequence=VSP_031283; Note=No experimental confirmation available.; Name=3; IsoId=Q8NCM8-3; Sequence=VSP_031282; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q9JJ79}. Cell membrane {ECO:0000250|UniProtKB:Q45VK7}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q45VK7}. Cytoplasm {ECO:0000250|UniProtKB:Q9JJ79}. Note=Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668). {ECO:0000250|UniProtKB:Q9JJ79, ECO:0000269|PubMed:8666668}.


uniprotID: P13639
geneSymbol: EEF2
reactome: R-HSA-156902;R-HSA-5336415;R-HSA-5358493;R-HSA-6798695;R-HSA-8876725;
pdb: 4V6X;6D9J;
name: Elongation factor 2 (EF-2)
length: 858
go: ENSG00000167658;
drug: DB02059;DB03223;DB04315;
snps: rs587777052
sequence:

opentargets:
aggresome [GO:0016235]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; membrane raft [GO:0045121]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; polysomal ribosome [GO:0042788]; ribonucleoprotein complex [GO:1990904]; secretory granule lumen [GO:0034774]; synapse [GO:0045202]; 5S rRNA binding [GO:0008097]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; p53 binding [GO:0002039]; protein kinase binding [GO:0019901]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; aging [GO:0007568]; cellular response to brain-derived neurotrophic factor stimulus [GO:1990416]; glial cell proliferation [GO:0014009]; hematopoietic progenitor cell differentiation [GO:0002244]; neutrophil degranulation [GO:0043312]; positive regulation of cytoplasmic translation [GO:2000767]; positive regulation of translation [GO:0045727]; response to endoplasmic reticulum stress [GO:0034976]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to folic acid [GO:0051593]; response to hydrogen peroxide [GO:0042542]; response to ischemia [GO:0002931]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle contraction [GO:0003009]; translational elongation [GO:0006414]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25064856}. Nucleus {ECO:0000269|PubMed:24648518}. Note=Phosphorylation by CSK promotes cleavage and SUMOylation-dependent nuclear translocation of the C-terminal cleavage product. {ECO:0000269|PubMed:24648518}.


uniprotID: Q96C19
geneSymbol: EFHD2
pdb: 5H0P;5I2L;5I2O;5I2Q;
name: EF-hand domain-containing protein D2 (Swiprosin-1)
length: 240
go: ENSG00000142634;
opentargets: membrane raft [GO:0045121]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]
sequence:

location:
SUBCELLULAR LOCATION: Membrane raft {ECO:0000250}. Note=In a mouse immature B-cell line WEHI-231. {ECO:0000250}.


uniprotID: Q9H2C0
geneSymbol: GAN
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 2PPI;3HVE;
name: Gigaxonin (Kelch-like protein 16)
length: 597
go: ENSG00000261609;
location: SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton.
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; cytoskeleton organization [GO:0007010]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

snps:
rs119485093 rs750258209 rs1310137430 rs119485092 rs759581558 rs144486241 rs758756818 rs119485091 rs119485088 rs112201678 rs746486469 


uniprotID: P14867
geneSymbol: GABRA1
reactome: R-HSA-112314;R-HSA-977441;
pdb: 6CDU;6D1S;6D6T;6D6U;
name: Gamma-aminobutyric acid receptor subunit alpha-1 (GABA(A) receptor subunit alpha-1)
length: 456
go: ENSG00000022355;
snps: rs587777308 rs587777364 rs587777307 rs587777309 rs121434579
sequence:

opentargets:
cell junction [GO:0030054]; chloride channel complex [GO:0034707]; cytoplasmic vesicle membrane [GO:0030659]; dendrite membrane [GO:0032590]; GABA receptor complex [GO:1902710]; GABA-A receptor complex [GO:1902711]; GABA-ergic synapse [GO:0098982]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; synapse [GO:0045202]; chloride channel activity [GO:0005254]; drug binding [GO:0008144]; GABA-A receptor activity [GO:0004890]; GABA-gated chloride ion channel activity [GO:0022851]; inhibitory extracellular ligand-gated ion channel activity [GO:0005237]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; cellular response to histamine [GO:0071420]; chemical synaptic transmission [GO:0007268]; chloride transmembrane transport [GO:1902476]; gamma-aminobutyric acid signaling pathway [GO:0007214]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; regulation of postsynaptic membrane potential [GO:0060078]; signal transduction [GO:0007165]; synaptic transmission, GABAergic [GO:0051932]

drug:
DB00659;DB00546;DB06579;DB00404;DB01351;DB00543;DB01352;DB01483;DB01496;DB01558;DB00237;DB00241;DB01353;DB00475;DB01594;DB00349;DB01068;DB00628;DB01559;DB01189;DB00829;DB01341;DB00228;DB01049;DB01215;DB00402;DB00898;DB00189;DB00292;DB01567;DB01205;DB00690;DB05087;DB01381;DB01437;DB00801;DB01159;DB01354;DB01355;DB00753;DB01587;DB00186;DB00371;DB00463;DB00474;DB01028;DB00849;DB01107;DB00683;DB01595;DB00334;DB00842;DB00312;DB01174;DB00466;DB01708;DB01588;DB00794;DB00837;DB00818;DB01589;DB01346;DB00418;DB01236;DB00306;DB00231;DB01154;DB11582;DB00599;DB00273;DB00897;DB00962;DB00425;DB01198;

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:2465923}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P62813}.


uniprotID: O14893
geneSymbol: GEMIN2
reactome: R-HSA-191859;
pdb: 2LEH;5XJL;5XJQ;5XJR;5XJS;5XJT;5XJU;
length: 280
go: ENSG00000092208;
name:
Gem-associated protein 2 (Gemin-2) (Component of gems 2) (Survival of motor neuron protein-interacting protein 1) (SMN-interacting protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; spliceosomal complex [GO:0005681]; import into nucleus [GO:0051170]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]; spliceosomal complex assembly [GO:0000245]; spliceosomal snRNP assembly [GO:0000387]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=SIP1-alpha; IsoId=O14893-1; Sequence=Displayed; Name=2; Synonyms=SIP1-beta; IsoId=O14893-2; Sequence=VSP_013545; Name=3; Synonyms=SIP1-gamma; IsoId=O14893-3; Sequence=VSP_013546, VSP_013547; Name=4; Synonyms=SIP1-delta; IsoId=O14893-4; Sequence=VSP_013543, VSP_013544; 

location:
SUBCELLULAR LOCATION: Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.


uniprotID: Q8IVV7
geneSymbol: GID4
pdb: 6CCR;6CCT;6CCU;6CD8;6CD9;6CDC;6CDG;
name: Glucose-induced degradation protein 4 homolog (Vacuolar import and degradation protein 24 homolog)
length: 300
go: ENSG00000141034;
sequence:

opentargets:
ubiquitin ligase complex [GO:0000151]; ubiquitin protein ligase activity [GO:0061630]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]


uniprotID: P0CL80
geneSymbol: GAGE12F
name: G antigen 12F (GAGE-12F)
length: 117
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEEGEKQSQC

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0CL80-1; Sequence=Displayed; Name=2; IsoId=P0CL80-2; Sequence=VSP_040953; 


uniprotID: Q4G0N0
geneSymbol: GGTA1P
length: 100
name:
Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase (Glycoprotein alpha-galactosyltransferase 1 pseudogene)

sequence:
MNVKGKVILSMLVVSTVIIVFWEFINSTEGSFLWIYHSKNPEVDDSSAQKGWWFLSWFNNGIHNYQQGEEDIDKEKGREETKGRKMTQQSFGYGTGLIQT

opentargets:
Golgi cisterna [GO:0031985]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; transferase activity, transferring hexosyl groups [GO:0016758]; carbohydrate metabolic process [GO:0005975]; leukotriene D4 biosynthetic process [GO:1901750]; protein galactosylation at cell surface [GO:0033580]


uniprotID: P01814
geneSymbol: IGHV2-70
length: 119
go: ENSG00000274576;
name:
Immunoglobulin heavy variable 2-70 (Ig heavy chain V-II region COR) (Ig heavy chain V-II region DAW) (Ig heavy chain V-II region OU) (Ig heavy chain V-II region SESS)

sequence:
MDILCSTLLLLTVPSWVLSQVTLRESGPALVKPTQTLTLTCTFSGFSLSTSGMCVSWIRQPPGKALEWLALIDWDDDKYYSTSLKTRLTISKDTSKNQVVLTMTNMDPVDTATYYCARI


uniprotID: Q9UBU3
geneSymbol: GHRL
reactome: R-HSA-375276;R-HSA-416476;R-HSA-422085;
pdb: 1P7X;
length: 117
go: ENSG00000157017;
snps: rs696217 rs4684677
location: SUBCELLULAR LOCATION: Secreted.
name:
Appetite-regulating hormone (Growth hormone secretagogue) (Growth hormone-releasing peptide) (Motilin-related peptide) (Protein M46) [Cleaved into: Ghrelin-27; Ghrelin-28 (Ghrelin); Obestatin]

sequence:
MPSPGTVCSLLLLGMLWLDLAMAGSSFLSPEHQRVQQRKESKKPPAKLQPRALAGWLRPEDGGQAEGAEDELEVRFNAPFDVGIKLSGVQYQQHSQALGKFLQDILWEEAKEAPADK

opentargets:
axon [GO:0030424]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; postsynapse [GO:0098794]; Schaffer collateral - CA1 synapse [GO:0098685]; secretory granule lumen [GO:0034774]; G protein-coupled receptor binding [GO:0001664]; ghrelin receptor binding [GO:0031768]; growth hormone-releasing hormone activity [GO:0016608]; protein tyrosine kinase activator activity [GO:0030296]; actin polymerization or depolymerization [GO:0008154]; activation of MAPK activity [GO:0000187]; adult feeding behavior [GO:0008343]; cartilage development [GO:0051216]; cortisol secretion [GO:0043400]; decidualization [GO:0046697]; dendrite development [GO:0016358]; excitatory postsynaptic potential [GO:0060079]; G protein-coupled receptor signaling pathway [GO:0007186]; gastric acid secretion [GO:0001696]; gastric emptying [GO:0035483]; glucose metabolic process [GO:0006006]; growth hormone secretion [GO:0030252]; hormone-mediated signaling pathway [GO:0009755]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of circadian sleep/wake cycle, REM sleep [GO:0042322]; negative regulation of endothelial cell proliferation [GO:0001937]; 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 [GO:0040013]; negative regulation of tumor necrosis factor biosynthetic process [GO:0042536]; negative regulation of tumor necrosis factor secretion [GO:1904468]; positive regulation of adipose tissue development [GO:1904179]; positive regulation of appetite [GO:0032100]; positive regulation of bone development [GO:1903012]; positive regulation of circadian sleep/wake cycle, non-REM sleep [GO:0046010]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of corticotropin secretion [GO:0051461]; positive regulation of cortisol secretion [GO:0051464]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of eating behavior [GO:1904000]; positive regulation of gastric mucosal blood circulation [GO:1904346]; positive regulation of growth hormone receptor signaling pathway [GO:0060399]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of growth rate [GO:0040010]; positive regulation of insulin secretion [GO:0032024]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; 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 synapse assembly [GO:0051965]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; regulation of cell proliferation [GO:0042127]; regulation of gastric motility [GO:1905333]; regulation of postsynapse organization [GO:0099175]; regulation of response to food [GO:0032095]; regulation of transmission of nerve impulse [GO:0051969]; response to electrical stimulus [GO:0051602]; response to estrogen [GO:0043627]; response to hormone [GO:0009725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Ghrelin; IsoId=Q9UBU3-1; Sequence=Displayed; Name=2; Synonyms=des-Gln14-ghrelin; IsoId=Q9UBU3-2; Sequence=VSP_003245; Name=3; IsoId=Q9UBU3-3; Sequence=VSP_041437; Name=4; IsoId=Q9UBU3-4; Sequence=VSP_041437, VSP_003245; Name=5; IsoId=Q9UBU3-5; Sequence=VSP_041438; Name=6; IsoId=Q9UBU3-6; Sequence=VSP_047642; 


uniprotID: A6NEF3
geneSymbol: GOLGA6L4
name: Golgin subfamily A member 6-like protein 4
length: 574
opentargets: Golgi apparatus [GO:0005794]
sequence:


uniprotID: A6NI86
geneSymbol: GOLGA6L10
name: Golgin subfamily A member 6-like protein 10
length: 522
opentargets: Golgi apparatus [GO:0005794]
sequence:


uniprotID: P01825
geneSymbol: IGHV4-59
pdb: 7FAB;
name: Immunoglobulin heavy variable 4-59 (Ig heavy chain V-II region NEWM)
length: 116
go: ENSG00000224373;
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSETLSLTCTVSGGSISSYYWSWIRQPPGKGLEWIGYIYYSGSTNYNPSLKSRVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: P14770
geneSymbol: GP9
reactome: R-HSA-140837;R-HSA-430116;R-HSA-75892;R-HSA-76009;
pdb: 3REZ;
name: Platelet glycoprotein IX (GP-IX) (GPIX) (Glycoprotein 9) (CD antigen CD42a)
length: 177
go: ENSG00000169704;
drug: DB00468;
snps: rs121918038 rs28933378 rs121918036 rs28933377 rs5030764 rs121918037 rs3796130
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:
MPAWGALFLLWATAEATKDCPSPCTCRALETMGLWVDCRGHGLTALPALPARTRHLLLANNSLQSVPPGAFDHLPQLQTLDVTQNPWHCDCSLTYLRLWLEDRTPEALLQVRCASPSLAAHGPLGRLTGYQLGSCGWQLQASWVRPGVLWDVALVAVAALGLALLAGLLCATTEALD

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; blood coagulation [GO:0007596]; blood coagulation, intrinsic pathway [GO:0007597]; cell adhesion [GO:0007155]; platelet activation [GO:0030168]


uniprotID: Q04637
geneSymbol: EIF4G1
pdb: 1LJ2;1UG3;2W97;4AZA;4F02;5EHC;5EI3;5EIR;5T46;
name: Eukaryotic translation initiation factor 4 gamma 1 (eIF-4-gamma 1) (eIF-4G 1) (eIF-4G1) (p220)
length: 1599
go: ENSG00000114867;
reactome:
R-HSA-1169408;R-HSA-156827;R-HSA-166208;R-HSA-429947;R-HSA-450408;R-HSA-72649;R-HSA-72662;R-HSA-72702;R-HSA-72706;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; membrane [GO:0016020]; nucleus [GO:0005634]; polysome [GO:0005844]; ATP binding [GO:0005524]; eukaryotic initiation factor 4E binding [GO:0008190]; identical protein binding [GO:0042802]; mRNA binding [GO:0003729]; protein-containing complex scaffold activity [GO:0032947]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; behavioral fear response [GO:0001662]; cap-dependent translational initiation [GO:0002191]; cellular macromolecule biosynthetic process [GO:0034645]; cellular response to nutrient levels [GO:0031669]; developmental process [GO:0032502]; energy homeostasis [GO:0097009]; mitochondrion organization [GO:0007005]; negative regulation of autophagy [GO:0010507]; negative regulation of neuron death [GO:1901215]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of cell death [GO:0010942]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of eukaryotic translation initiation factor 4F complex assembly [GO:1905537]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of miRNA mediated inhibition of translation [GO:1905618]; positive regulation of mRNA cap binding [GO:1905612]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; regulation of cellular response to stress [GO:0080135]; regulation of gene silencing by miRNA [GO:0060964]; regulation of mRNA stability [GO:0043488]; regulation of polysome binding [GO:1905696]; regulation of presynapse assembly [GO:1905606]; regulation of translational initiation [GO:0006446]; translation [GO:0006412]; translational initiation [GO:0006413]; viral process [GO:0016032]

snps:
rs113810947 rs13319149 rs34838305 rs16858632 rs2178403 rs111290936 rs112019125 rs754755344 rs62287499 rs111500185 rs113169049 rs113388242 rs112176450 rs35629949 rs2230570 rs73053766 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=8;  Name=A; IsoId=Q04637-1; Sequence=Displayed; Name=B; IsoId=Q04637-3; Sequence=VSP_018720; Note=Produced by alternative initiation at Met-41 of isoform A.; Name=C; IsoId=Q04637-4; Sequence=VSP_018721; Note=Produced by alternative initiation at Met-88 of isoform A.; Name=D; IsoId=Q04637-5; Sequence=VSP_018722; Note=Produced by alternative initiation at Met-165 of isoform A.; Name=E; IsoId=Q04637-6; Sequence=VSP_018723; Note=Produced by alternative initiation at Met-197 of isoform A.; Name=7; IsoId=Q04637-7; Sequence=VSP_018723, VSP_047397; Note=Produced by alternative splicing.; Name=8; IsoId=Q04637-8; Sequence=VSP_047397; Note=Produced by alternative splicing.; Name=9; IsoId=Q04637-9; Sequence=VSP_047396; Note=Produced by alternative splicing. Gene prediction based on EST data.; 


uniprotID: O43432
geneSymbol: EIF4G3
reactome: R-HSA-1169408;
pdb: 1HU3;
length: 1585
go: ENSG00000075151;
snps: rs35731992 rs35176330 rs2230572
name:
Eukaryotic translation initiation factor 4 gamma 3 (eIF-4-gamma 3) (eIF-4G 3) (eIF4G 3) (eIF-4-gamma II) (eIF4GII)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic translation initiation factor 4F complex [GO:0016281]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; RNA cap binding [GO:0000339]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; regulation of translational initiation [GO:0006446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43432-1; Sequence=Displayed; Name=2; IsoId=O43432-2; Sequence=VSP_010487, VSP_010488, VSP_010489; Note=No experimental confirmation available.; Name=3; IsoId=O43432-3; Sequence=VSP_043447, VSP_043448; Note=No experimental confirmation available.; Name=4; IsoId=O43432-4; Sequence=VSP_054502; Note=No experimental confirmation available.; 


uniprotID: P63241
geneSymbol: EIF5A
reactome: R-HSA-204626;
pdb: 1FH4;3CPF;5DLQ;
length: 154
go: ENSG00000132507;
name:
Eukaryotic translation initiation factor 5A-1 (eIF-5A-1) (eIF-5A1) (Eukaryotic initiation factor 5A isoform 1) (eIF-5A) (Rev-binding factor) (eIF-4D)

sequence:
MADDLDFETGDAGASATFPMQCSALRKNGFVVLKGRPCKIVEMSTSKTGKHGHAKVHLVGIDIFTGKKYEDICPSTHNMDVPNIKRNDFQLIGIQDGYLSLLQDSGEVREDLRLPEGDLGKEIEQKYDCGEEILITVLSAMTEEAAVAIKAMAK

opentargets:
annulate lamellae [GO:0005642]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nuclear pore [GO:0005643]; nucleus [GO:0005634]; synapse [GO:0045202]; protein N-terminus binding [GO:0047485]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; U6 snRNA binding [GO:0017070]; aging [GO:0007568]; apoptotic process [GO:0006915]; cellular response to thyroid hormone stimulus [GO:0097067]; mRNA export from nucleus [GO:0006406]; negative regulation of apoptotic process [GO:0043066]; nucleocytoplasmic transport [GO:0006913]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of translational elongation [GO:0045901]; positive regulation of translational termination [GO:0045905]; protein export from nucleus [GO:0006611]; translational frameshifting [GO:0006452]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=B, C, D; IsoId=P63241-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=P63241-2; Sequence=VSP_022020; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus, nuclear pore complex. Note=Hypusine modification promotes the nuclear export and cytoplasmic localization and there was a dynamic shift in the localization from predominantly cytoplasmic to primarily nuclear under apoptotic inducing conditions.


uniprotID: Q5TF58
geneSymbol: IFFO2
name: Intermediate filament family orphan 2
length: 517
go: ENSG00000169991;
opentargets: intermediate filament [GO:0005882]
sequence:


uniprotID: Q9H496
geneSymbol: TOR1AIP2
name: Torsin-1A-interacting protein 2, isoform IFRG15 (15 kDa interferon-responsive protein) (IFRG15)
length: 131
go: ENSG00000169905;
sequence:
MFSDNSHCPDCGQQWFPSLELGHWLYQTELVENECYQVFLDRINRADYCPECYPDNPANRSLVLPWSFPLEWAPQNLTRWTFEKACHPFLLGPPLVRKRIHDSRVAGFNPALQLILTRTDKTLNKKLGQNK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=IFRG15; IsoId=Q9H496-1; Sequence=Displayed; Note=No experimental confirmation available. Dubious isoform.; Name=TOR1AIP2; IsoId=Q8NFQ8-1; Sequence=External; 


uniprotID: P09912
geneSymbol: IFI6
reactome: R-HSA-909733;
name: Interferon alpha-inducible protein 6 (Interferon-induced protein 6-16) (Ifi-6-16)
length: 130
go: ENSG00000126709;
sequence:
MRQKAVSLFLCYLLLFTCSGVEAGKKKCSESSDSGSGFWKALTFMAVGGGLAVAGLPALGFTGAGIAANSVAASLMSWSAILNGGGVPAGGLVATLQSLGAGGSSVVIGNIGALMGYATHKYLDSEEDEE

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cellular response to virus [GO:0098586]; defense response to virus [GO:0051607]; immune response [GO:0006955]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of mitochondrial depolarization [GO:0051902]; reactive oxygen species metabolic process [GO:0072593]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; release of cytochrome c from mitochondria [GO:0001836]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=P09912-1; Sequence=Displayed; Name=B; IsoId=P09912-2; Sequence=VSP_001502; Name=C; IsoId=P09912-3; Sequence=VSP_001503; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15685448, ECO:0000269|PubMed:17823654, ECO:0000269|PubMed:25757571, ECO:0000269|PubMed:27673746, ECO:0000269|PubMed:29899394}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q6UWM5
geneSymbol: GLIPR1L1
name: GLIPR1-like protein 1
length: 242
go: ENSG00000173401;
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; anchored component of membrane [GO:0031225]; extracellular space [GO:0005615]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=GLIPR1L1beta; IsoId=Q6UWM5-1; Sequence=Displayed; Name=2; Synonyms=GLIPR1L1alpha; IsoId=Q6UWM5-2; Sequence=VSP_022456; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9DAG6}. Cell membrane {ECO:0000250|UniProtKB:Q9DAG6}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9DAG6}. Membrane raft {ECO:0000250|UniProtKB:Q32LB5}. Note=Located in the connecting piece of elongated spermatids and sperm. Also located in the apical region of the sperm head after sperm capacitation. Located on sperm equatorial segment and neck. Associated with epididymosomes from the caput and cauda epididymis. {ECO:0000250|UniProtKB:Q32LB5, ECO:0000250|UniProtKB:Q9DAG6}.


uniprotID: Q9BZJ8
geneSymbol: GPR61
name: G-protein coupled receptor 61 (Biogenic amine receptor-like G-protein coupled receptor)
length: 451
go: ENSG00000156097;
sequence:

opentargets:
endosome [GO:0005768]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; arrestin family protein binding [GO:1990763]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of cAMP-mediated signaling [GO:0043950]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28827538, ECO:0000269|PubMed:29226084}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:28827538}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with ARRB2/beta-arrestin-2 in the endosome (PubMed:28827538). {ECO:0000269|PubMed:28827538}.


uniprotID: O95800
geneSymbol: GPR75
name: Probable G-protein coupled receptor 75
length: 540
go: ENSG00000119737;
snps: rs72799238 rs763005023 rs34000641 rs35349235 rs3731969
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; C-C chemokine receptor activity [GO:0016493]; G protein-coupled receptor activity [GO:0004930]; chemokine-mediated signaling pathway [GO:0070098]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of neuron death [GO:1901214]


uniprotID: Q9NQS5
geneSymbol: GPR84
reactome: R-HSA-418555;R-HSA-6798695;
name: G-protein coupled receptor 84 (Inflammation-related G-protein coupled receptor EX33)
length: 396
go: ENSG00000139572;
snps: rs11170883
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; G protein-coupled peptide receptor activity [GO:0008528]; urotensin II receptor activity [GO:0001604]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; neutrophil degranulation [GO:0043312]


uniprotID: Q86YR5
geneSymbol: GPSM1
reactome: R-HSA-418594;
name: G-protein-signaling modulator 1 (Activator of G-protein signaling 3)
length: 675
go: ENSG00000160360;
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; GDP-dissociation inhibitor activity [GO:0005092]; cell differentiation [GO:0030154]; negative regulation of GTPase activity [GO:0034260]; negative regulation of guanyl-nucleotide exchange factor activity [GO:1905098]; nervous system development [GO:0007399]; positive regulation of macroautophagy [GO:0016239]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86YR5-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q86YR5-2; Sequence=VSP_020937; Note=Minor isoform.; Name=3; IsoId=Q86YR5-3; Sequence=VSP_020938, VSP_020939; Note=No experimental confirmation available.; Name=4; Synonyms=FL; IsoId=Q86YR5-4; Sequence=VSP_039028; Note=Major isoform.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side.


uniprotID: Q14623
geneSymbol: IHH
pdb: 3K7G;3K7H;3K7I;3K7J;3N1F;3N1M;3N1O;3N1P;
length: 411
go: ENSG00000163501;
snps: rs121917856 rs121917852 rs121917854 rs121917855 rs121917853 rs121917857
reactome:
R-HSA-373080;R-HSA-5358346;R-HSA-5362798;R-HSA-5632681;R-HSA-5632684;R-HSA-5635838;R-HSA-5658034;R-HSA-8941284;

name:
Indian hedgehog protein (IHH) (HHG-2) [Cleaved into: Indian hedgehog protein N-product; Indian hedgehog protein C-product]

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; patched binding [GO:0005113]; peptidase activity [GO:0008233]; bone resorption [GO:0045453]; branching involved in blood vessel morphogenesis [GO:0001569]; camera-type eye photoreceptor cell fate commitment [GO:0060220]; cartilage development [GO:0051216]; cell fate specification [GO:0001708]; cell maturation [GO:0048469]; cell-cell signaling [GO:0007267]; chondrocyte differentiation involved in endochondral bone morphogenesis [GO:0003413]; chondrocyte proliferation [GO:0035988]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic digit morphogenesis [GO:0042733]; embryonic pattern specification [GO:0009880]; embryonic skeletal joint development [GO:0072498]; epithelial cell morphogenesis [GO:0003382]; epithelial cell-cell adhesion [GO:0090136]; head morphogenesis [GO:0060323]; heart looping [GO:0001947]; in utero embryonic development [GO:0001701]; intein-mediated protein splicing [GO:0016539]; liver regeneration [GO:0097421]; maternal process involved in female pregnancy [GO:0060135]; multicellular organism growth [GO:0035264]; negative regulation of alpha-beta T cell differentiation [GO:0046639]; negative regulation of apoptotic process [GO:0043066]; negative regulation of eye pigmentation [GO:0048074]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; negative regulation of T cell differentiation in thymus [GO:0033085]; neuron development [GO:0048666]; osteoblast differentiation [GO:0001649]; pancreas development [GO:0031016]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proteoglycan metabolic process [GO:0006029]; regulation of growth [GO:0040008]; response to estradiol [GO:0032355]; response to mechanical stimulus [GO:0009612]; retinal pigment epithelium development [GO:0003406]; skeletal system development [GO:0001501]; smooth muscle tissue development [GO:0048745]; smoothened signaling pathway [GO:0007224]; somite development [GO:0061053]; vitelline membrane formation [GO:0030704]

location:
SUBCELLULAR LOCATION: Indian hedgehog protein N-product: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Extracellular side {ECO:0000250}. Note=The N-terminal peptide remains associated with the cell surface. {ECO:0000250}.; SUBCELLULAR LOCATION: Indian hedgehog protein C-product: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21537345}.


uniprotID: Q8IYA8
geneSymbol: CCDC36
length: 594
go: ENSG00000173421;
snps: rs13068038
name:
Interactor of HORMAD1 protein 1 (Cancer/testis antigen 74) (CT74) (Coiled-coil domain-containing protein 36)

sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; DNA recombination [GO:0006310]; meiotic DNA double-strand break formation [GO:0042138]; oogenesis [GO:0048477]; regulation of homologous chromosome segregation [GO:0060629]; spermatogenesis [GO:0007283]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IYA8-1; Sequence=Displayed; Name=2; IsoId=Q8IYA8-2; Sequence=VSP_027987, VSP_027988; Note=No experimental confirmation available.; Name=3; IsoId=Q8IYA8-3; Sequence=VSP_027989, VSP_027990; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q6PDM4}. Note=Specifically localizes to unsynapsed chromosomal regions during meiosis. {ECO:0000250|UniProtKB:Q6PDM4}.


uniprotID: Q5VVH5
geneSymbol: IRAK1BP1
name: Interleukin-1 receptor-associated kinase 1-binding protein 1 (IRAK1-binding protein 1)
length: 260
go: ENSG00000146243;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; immune response [GO:0006955]


uniprotID: Q9BYH8
geneSymbol: NFKBIZ
length: 718
go: ENSG00000144802;
snps: rs3821727
name:
NF-kappa-B inhibitor zeta (I-kappa-B-zeta) (IkB-zeta) (IkappaBzeta) (IL-1 inducible nuclear ankyrin-repeat protein) (INAP) (Molecule possessing ankyrin repeats induced by lipopolysaccharide) (MAIL)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; inflammatory response [GO:0006954]; positive regulation of inflammatory response [GO:0050729]; positive regulation of T-helper 17 cell differentiation [GO:2000321]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=MAIL-L; IsoId=Q9BYH8-1; Sequence=Displayed; Name=2; Synonyms=MAIL-S, Transcription variant 3; IsoId=Q9BYH8-2; Sequence=VSP_032022; Name=3; IsoId=Q9BYH8-3; Sequence=VSP_032023; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16513645}. Note=Aggregated in dot-like structures. Colocalizes with NCOR2.


uniprotID: Q4G1C9
geneSymbol: GLIPR1L2
name: GLIPR1-like protein 2
length: 344
go: ENSG00000180481;
opentargets: extracellular space [GO:0005615]; 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=6;  Name=1; Synonyms=delta; IsoId=Q4G1C9-1; Sequence=Displayed; Name=2; Synonyms=alpha; IsoId=Q4G1C9-2; Sequence=VSP_032246; Name=3; IsoId=Q4G1C9-3; Sequence=VSP_032242, VSP_032243; Note=No experimental confirmation available.; Name=4; Synonyms=epsilon; IsoId=Q4G1C9-4; Sequence=VSP_032244, VSP_032245; Name=5; Synonyms=gamma; IsoId=Q4G1C9-5; Sequence=VSP_032239; Name=6; Synonyms=beta; IsoId=Q4G1C9-6; Sequence=VSP_032240, VSP_032241; 


uniprotID: P30550
geneSymbol: GRPR
reactome: R-HSA-375276;R-HSA-416476;
name: Gastrin-releasing peptide receptor (GRP-R) (GRP-preferring bombesin receptor)
length: 384
go: ENSG00000126010;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; neuropeptide binding [GO:0042923]; neuropeptide receptor activity [GO:0008188]; cell proliferation [GO:0008283]; G protein-coupled receptor signaling pathway [GO:0007186]; learning or memory [GO:0007611]; motor behavior [GO:0061744]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; psychomotor behavior [GO:0036343]; regulation of cell proliferation [GO:0042127]; response to external biotic stimulus [GO:0043207]; social behavior [GO:0035176]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1655761}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q5TC63
geneSymbol: GRTP1
name: Growth hormone-regulated TBC protein 1 (TBC1 domain family member 6)
length: 336
go: ENSG00000139835;
sequence:

opentargets:
intracellular [GO:0005622]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5TC63-1; Sequence=Displayed; Name=2; IsoId=Q5TC63-2; Sequence=VSP_025754, VSP_025755; Name=3; IsoId=Q5TC63-3; Sequence=VSP_025755; 


uniprotID: P07492
geneSymbol: GRP
reactome: R-HSA-375276;R-HSA-381771;R-HSA-416476;
pdb: 2N0B;2N0C;2N0D;2N0E;2N0F;2N0G;2N0H;
name: Gastrin-releasing peptide (GRP) [Cleaved into: Neuromedin-C (GRP-10)]
length: 148
go: ENSG00000134443;
snps: rs1062557
sequence:
MRGRELPLVLLALVLCLAPRGRAVPLPAGGGTVLTKMYPRGNHWAVGHLMGKKSTGESSSVSERGSLKQQLREYIRWEEAARNLLGLIEAKENRNHQPPQPKALGNQQPSWDSEDSSNFKDVGSKGKVGRLSAPGSQREGRNPQLNQQ

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule lumen [GO:0034774]; neuropeptide hormone activity [GO:0005184]; signaling receptor binding [GO:0005102]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway [GO:1900738]; psychomotor behavior [GO:0036343]; response to external biotic stimulus [GO:0043207]; signal transduction [GO:0007165]; social behavior [GO:0035176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P07492-1; Sequence=Displayed; Name=2; IsoId=P07492-2; Sequence=VSP_000549; Name=3; IsoId=P07492-3; Sequence=VSP_000550; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:3211139}. Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000250|UniProtKB:Q863C3}.


uniprotID: Q13422
geneSymbol: IKZF1
reactome: R-HSA-9013508;
length: 519
go: ENSG00000185811;
snps: rs770551610 rs770551610 rs869312884 rs869312885 rs869312883
name:
DNA-binding protein Ikaros (Ikaros family zinc finger protein 1) (Lymphoid transcription factor LyF-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear pericentric heterochromatin [GO:0031618]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; 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]; protein domain specific binding [GO:0019904]; transcription regulatory region DNA binding [GO:0044212]; cell cycle [GO:0007049]; chromatin organization [GO:0006325]; erythrocyte differentiation [GO:0030218]; lymphocyte differentiation [GO:0030098]; mesoderm development [GO:0007498]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein heterooligomerization [GO:0051291]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=Ik1; IsoId=Q13422-1; Sequence=Displayed; Name=Ik2; IsoId=Q13422-2; Sequence=VSP_006848; Name=Ik3; IsoId=Q13422-3; Sequence=VSP_006850; Name=Ik4; IsoId=Q13422-4; Sequence=VSP_006847, VSP_006850; Name=Ik5; IsoId=Q13422-5; Sequence=VSP_006852; Name=Ik6; IsoId=Q13422-6; Sequence=VSP_006849; Name=Ik7; IsoId=Q13422-7; Sequence=VSP_006851; Name=Ikx; IsoId=Q13422-8; Sequence=VSP_006851, VSP_053404, VSP_053405; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17135265, ECO:0000269|PubMed:21548011, ECO:0000269|PubMed:22106042, ECO:0000269|PubMed:23071339}. Note=In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events. {ECO:0000269|PubMed:17135265, ECO:0000269|PubMed:22106042}.; SUBCELLULAR LOCATION: Isoform Ik2: Nucleus. Note=In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform Ik6: Cytoplasm {ECO:0000250}.


uniprotID: Q9UKS7
geneSymbol: IKZF2
name: Zinc finger protein Helios (Ikaros family zinc finger protein 2)
length: 526
go: ENSG00000030419;
snps: rs16849611
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; transcription regulatory region DNA binding [GO:0044212]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9UKS7-1; Sequence=Displayed; Name=2; Synonyms=Helios 1v; IsoId=Q9UKS7-2; Sequence=VSP_006845; Name=3; Synonyms=Helios del(Ex3,4); IsoId=Q9UKS7-3; Sequence=VSP_055347, VSP_055348; Name=4; Synonyms=Helios del(Ex6)v; IsoId=Q9UKS7-4; Sequence=VSP_006845, VSP_055350; Name=5; Synonyms=Helios 1+2a,2b, Helios 1v+2a, Helios del(Ex3)+2a; IsoId=Q9UKS7-5; Sequence=VSP_055345, VSP_055346; Name=6; Synonyms=Helios 1+5a, Helios 1+5a,5b; IsoId=Q9UKS7-6; Sequence=VSP_055351, VSP_055352; Name=7; Synonyms=Helios del(Ex5)v; IsoId=Q9UKS7-7; Sequence=VSP_006845, VSP_055349; Name=8; Synonyms=Helios S; IsoId=Q9UKS7-8; Sequence=VSP_055344; 


uniprotID: Q9H2S9
geneSymbol: IKZF4
pdb: 2MA7;
name: Zinc finger protein Eos (Ikaros family zinc finger protein 4)
length: 585
go: ENSG00000123411;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12444977}.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2S9-1; Sequence=Displayed; Name=2; IsoId=Q9H2S9-2; Sequence=VSP_027688; Note=No experimental confirmation available.; 


uniprotID: Q9H5V7
geneSymbol: IKZF5
name: Zinc finger protein Pegasus (Ikaros family zinc finger protein 5)
length: 419
go: ENSG00000095574;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein domain specific binding [GO:0019904]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein heterooligomerization [GO:0051291]


uniprotID: A4D1B5
geneSymbol: GSAP
length: 854
go: ENSG00000186088;
snps: rs6949654 rs1527263 rs17151692 rs17151689
location: SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:20811458}.
name:
Gamma-secretase-activating protein (GSAP) (Protein pigeon homolog) [Cleaved into: Gamma-secretase-activating protein 16 kDa C-terminal form (GSAP-16K)]

sequence:

opentargets:
trans-Golgi network [GO:0005802]; amyloid-beta binding [GO:0001540]; positive regulation of amyloid-beta formation [GO:1902004]; regulation of proteolysis [GO:0030162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A4D1B5-1; Sequence=Displayed; Name=2; IsoId=A4D1B5-2; Sequence=VSP_033772, VSP_033773, VSP_033774; Name=3; IsoId=A4D1B5-3; Sequence=VSP_033773, VSP_033774; Name=4; IsoId=A4D1B5-4; Sequence=VSP_033771; 


uniprotID: Q9NRJ2
geneSymbol: GSN-AS1
length: 163
name:
Putative uncharacterized protein GSN-AS1 (GSN antisense RNA 1) (GSN antisense gene protein 1) (Protein MOST-2)

sequence:
MTHPLPHDSHTSGAPPLVNKSRDLANGPPFFSPLQSLWEEFLHLLFMGTLLFYRIATKALRGKATLLKSHSKQPAQPGWEPGIRAPSPVPASSLQDHSRLTSLSRTGKEQRRTLSLIRKTSGTPTESTVATAAASTTEVPSRLPWAARAGFKRTTGVCIALPT


uniprotID: P29459
geneSymbol: IL12A
reactome: R-HSA-6783783;R-HSA-6785807;R-HSA-8984722;R-HSA-9020591;
pdb: 1F45;3HMX;
length: 219
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1674604, ECO:0000269|PubMed:9342359}.
name:
Interleukin-12 subunit alpha (IL-12A) (Cytotoxic lymphocyte maturation factor 35 kDa subunit) (CLMF p35) (IL-12 subunit p35) (NK cell stimulatory factor chain 1) (NKSF1)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-12 complex [GO:0043514]; late endosome lumen [GO:0031906]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-12 beta subunit binding [GO:0042163]; interleukin-12 receptor binding [GO:0005143]; interleukin-27 binding [GO:0045513]; protein heterodimerization activity [GO:0046982]; cell cycle arrest [GO:0007050]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to virus [GO:0098586]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-positive bacterium [GO:0050830]; defense response to protozoan [GO:0042832]; extrinsic apoptotic signaling pathway [GO:0097191]; immune response [GO:0006955]; interferon-gamma production [GO:0032609]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-35-mediated signaling pathway [GO:0070757]; negative regulation of interleukin-17 production [GO:0032700]; negative regulation of smooth muscle cell proliferation [GO:0048662]; positive regulation of cell adhesion [GO:0045785]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of lymphocyte proliferation [GO:0050671]; positive regulation of mononuclear cell proliferation [GO:0032946]; positive regulation of natural killer cell activation [GO:0032816]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; positive regulation of NK T cell activation [GO:0051135]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to lipopolysaccharide [GO:0032496]; response to UV-B [GO:0010224]; response to virus [GO:0009615]; T-helper 1 cell activation [GO:0035711]; T-helper 1 cell cytokine production [GO:0035744]


uniprotID: P31785
geneSymbol: IL2RG
pdb: 1ILL;1ILM;1ILN;1ITE;2B5I;2ERJ;3BPL;3QAZ;3QB7;4GS7;5M5E;
length: 369
go: ENSG00000147168;
drug: DB00041;DB00004;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-1266695;R-HSA-5673001;R-HSA-6785807;R-HSA-8983432;R-HSA-8985947;R-HSA-9020558;R-HSA-9020958;R-HSA-912526;

name:
Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)

sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-2 binding [GO:0019976]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; interleukin-15-mediated signaling pathway [GO:0035723]; interleukin-2-mediated signaling pathway [GO:0038110]; interleukin-21-mediated signaling pathway [GO:0038114]; interleukin-4-mediated signaling pathway [GO:0035771]; interleukin-7-mediated signaling pathway [GO:0038111]; interleukin-9-mediated signaling pathway [GO:0038113]; MAPK cascade [GO:0000165]; signal transduction [GO:0007165]; viral process [GO:0016032]

snps:
rs7885041 rs1057520644 rs193922347 rs17875899 rs111033620 rs111033622 rs111033621 rs1057521062 rs111033618 rs869320658 rs869320659 rs869320660 rs111033617 rs137852510 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31785-1; Sequence=Displayed; Name=2; IsoId=P31785-2; Sequence=VSP_047581, VSP_047582; 


uniprotID: Q6EBC2
geneSymbol: IL31
reactome: R-HSA-6788467;
name: Interleukin-31 (IL-31)
length: 164
go: ENSG00000204671;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MASHSGPSTSVLFLFCCLGGWLASHTLPVRLLRPSDDVQKIVEELQSLSKMLLKDVEEEKGVLVSQNYTLPCLSPDAQPPNNIHSPAIRAYLKTIRQLDNKSVIDEIIEHLDKLIFQDAPETNISVPTDTHECKRFILTISQQFSECMDLALKSLTSGAQQATT

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; cytokine receptor binding [GO:0005126]; cytokine-mediated signaling pathway [GO:0019221]; immune system process [GO:0002376]


uniprotID: O95760
geneSymbol: IL33
reactome: R-HSA-1257604;R-HSA-5689880;R-HSA-6811558;R-HSA-9014843;
pdb: 2KLL;4KC3;
length: 270
go: ENSG00000137033;
snps: rs16924241
name:
Interleukin-33 (IL-33) (Interleukin-1 family member 11) (IL-1F11) (Nuclear factor from high endothelial venules) (NF-HEV) [Cleaved into: Interleukin-33 (95-270); Interleukin-33 (99-270); Interleukin-33 (109-270)]

sequence:

opentargets:
chromosome [GO:0005694]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; transport vesicle [GO:0030133]; cytokine activity [GO:0005125]; defense response to virus [GO:0051607]; extrinsic apoptotic signaling pathway [GO:0097191]; interleukin-33-mediated signaling pathway [GO:0038172]; microglial cell activation involved in immune response [GO:0002282]; microglial cell proliferation [GO:0061518]; negative regulation of immunoglobulin secretion [GO:0051025]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of T-helper 1 type immune response [GO:0002826]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of immunoglobulin secretion [GO:0051024]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-13 production [GO:0032736]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of interleukin-5 production [GO:0032754]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of macrophage activation [GO:0043032]; positive regulation of neuroinflammatory response [GO:0150078]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type 2 immune response [GO:0002830]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95760-1; Sequence=Displayed; Name=2; IsoId=O95760-2; Sequence=VSP_042728; Note=No experimental confirmation available.; Name=3; Synonyms=spIL-33; IsoId=O95760-3; Sequence=VSP_044948; Note=Constitutively active.; Name=4; IsoId=O95760-4; Sequence=VSP_045440; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12819012, ECO:0000269|PubMed:17185418, ECO:0000269|PubMed:18787100, ECO:0000269|PubMed:18836528, ECO:0000269|PubMed:21734074}. Chromosome {ECO:0000269|PubMed:17185418}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:22215666}. Secreted {ECO:0000269|PubMed:19465481}. Note=Associates with heterochromatin and mitotic chromosomes (PubMed:17185418).


uniprotID: Q6ZMJ4
geneSymbol: IL34
reactome: R-HSA-449836;
pdb: 4DKC;4DKD;4DKE;4DKF;
name: Interleukin-34 (IL-34)
length: 242
go: ENSG00000157368;
snps: rs8046424 rs7206509
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18467591}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; macrophage colony-stimulating factor receptor binding [GO:0005157]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; positive regulation of cell proliferation [GO:0008284]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of protein phosphorylation [GO:0001934]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMJ4-1; Sequence=Displayed; Name=2; IsoId=Q6ZMJ4-2; Sequence=VSP_035079; 


uniprotID: Q9NZH7
geneSymbol: IL36B
reactome: R-HSA-9014826;
length: 164
go: ENSG00000136696;
snps: rs34754959
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16646978}.
name:
Interleukin-36 beta (FIL1 eta) (Interleukin-1 eta) (IL-1 eta) (Interleukin-1 family member 8) (IL-1F8) (Interleukin-1 homolog 2) (IL-1H2)

sequence:
MNPQREAAPKSYAIRDSRQMVWVLSGNSLIAAPLSRSIKPVTLHLIACRDTEFSDKEKGNMVYLGIKGKDLCLFCAEIQGKPTLQLKLQGSQDNIGKDTCWKLVGIHTCINLDVRESCFMGTLDQWGIGVGRKKWKSSFQHHHLRKKDKDFSSMRTNIGMPGRM

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-1 receptor binding [GO:0005149]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; 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]; positive regulation of T cell differentiation [GO:0045582]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZH7-1; Sequence=Displayed; Name=2; IsoId=Q9NZH7-2; Sequence=VSP_002657; Note=No experimental confirmation available.; 


uniprotID: Q9NZH8
geneSymbol: IL36G
reactome: R-HSA-9014826;
pdb: 4IZE;4P0J;4P0K;4P0L;
length: 169
go: ENSG00000136688;
snps: rs6707930
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20870894}.
name:
Interleukin-36 gamma (IL-1-related protein 2) (IL-1RP2) (Interleukin-1 epsilon) (IL-1 epsilon) (Interleukin-1 family member 9) (IL-1F9) (Interleukin-1 homolog 1) (IL-1H1)

sequence:
MRGTPGDADGGGRAVYQSMCKPITGTINDLNQQVWTLQGQNLVAVPRSDSVTPVTVAVITCKYPEALEQGRGDPIYLGIQNPEMCLYCEKVGEQPTLQLKEQKIMDLYGQPEPVKPFLFYRAKTGRTSTLESVAFPDWFIASSKRDQPIILTSELGKSYNTAFELNIND

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; interleukin-1 receptor binding [GO:0005149]; cell-cell signaling [GO:0007267]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of myoblast fusion [GO:1901740]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZH8-1; Sequence=Displayed; Name=2; IsoId=Q9NZH8-2; Sequence=VSP_013002; Note=No experimental confirmation available.; 


uniprotID: O15217
geneSymbol: GSTA4
reactome: R-HSA-156590;
pdb: 1GUL;1GUM;3IK7;
length: 222
go: ENSG00000170899;
drug: DB00143;
snps: rs45551133 rs4147617
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Glutathione S-transferase A4 (EC 2.5.1.18) (GST class-alpha member 4) (Glutathione S-transferase A4-4)

sequence:

opentargets:
cytosol [GO:0005829]; glutathione transferase activity [GO:0004364]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15217-1; Sequence=Displayed; Name=2; IsoId=O15217-2; Sequence=VSP_056473; 


uniprotID: P08700
geneSymbol: IL3
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-8939247;R-HSA-912526;
pdb: 1JLI;5UV8;5UWC;
length: 152
go: ENSG00000164399;
drug: DB01025;
snps: rs35415145 rs2069787 rs40401 rs35482671
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-3 (IL-3) (Hematopoietic growth factor) (Mast cell growth factor) (MCGF) (Multipotential colony-stimulating factor) (P-cell-stimulating factor)

sequence:
MSRLPVLLLLQLLVRPGLQAPMTQTTPLKTSWVNCSNMIDEIITHLKQPPLPLLDFNNLNGEDQDILMENNLRRPNLEAFNRAVKSLQNASAIESILKNLLPCLPLATAAPTRHPIHIKDGDWNEFRRKLTFYLKTLENAQAQQTTLSLAIF

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-3 receptor binding [GO:0005135]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; embryonic hemopoiesis [GO:0035162]; immune response [GO:0006955]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]; positive regulation of cell proliferation [GO:0008284]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of cytokine-mediated signaling pathway [GO:0001959]


uniprotID: Q7RTV2
geneSymbol: GSTA5
reactome: R-HSA-156590;
length: 222
go: ENSG00000182793;
drug: DB00143;
snps: rs2397118
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Glutathione S-transferase A5 (EC 2.5.1.18) (GST class-alpha member 5) (Glutathione S-transferase A5-5)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione transferase activity [GO:0004364]; glutathione metabolic process [GO:0006749]


uniprotID: P24394
geneSymbol: IL4R
reactome: R-HSA-6785807;
pdb: 1IAR;1IRS;1ITE;3BPL;3BPN;3BPO;5E4E;
length: 825
go: ENSG00000077238;
drug: DB05078;
name:
Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin-4 receptor subunit alpha (Soluble IL-4 receptor subunit alpha) (Soluble IL-4R-alpha) (sIL4Ralpha/prot) (IL-4-binding protein) (IL4-BP)]

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; interleukin-4 receptor activity [GO:0004913]; cytokine-mediated signaling pathway [GO:0019221]; defense response to protozoan [GO:0042832]; immune response [GO:0006955]; immunoglobulin mediated immune response [GO:0016064]; negative regulation of T-helper 1 cell differentiation [GO:0045626]; ovulation [GO:0030728]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of immunoglobulin production [GO:0002639]; positive regulation of macrophage activation [GO:0043032]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of T-helper 2 cell differentiation [GO:0045630]; production of molecular mediator involved in inflammatory response [GO:0002532]; regulation of cell proliferation [GO:0042127]; response to estrogen [GO:0043627]; response to odorant [GO:1990834]; signal transduction [GO:0007165]

snps:
rs1805010 rs1805010 rs1805010 rs6413500 rs1805011 rs1805012 rs1805013 rs35606110 rs34727572 rs1805015 rs1801275 rs3024677 rs3024678 rs1805016 rs1805014 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Membrane-bound form; IsoId=P24394-1; Sequence=Displayed; Name=2; Synonyms=Soluble form, sIL4Ralpha/splice; IsoId=P24394-2; Sequence=VSP_011116, VSP_011117; Name=3; IsoId=P24394-3; Sequence=VSP_053738; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: P05112
geneSymbol: IL4
reactome: R-HSA-6785807;R-HSA-9012546;
length: 153
go: ENSG00000113520;
snps: rs4986964
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1BBN;1BCN;1CYL;1HIJ;1HIK;1HZI;1IAR;1ILL;1ITE;1ITI;1ITL;1ITM;1RCB;2B8U;2B8X;2B8Y;2B8Z;2B90;2B91;2CYK;2D48;2INT;3BPL;3BPN;3QB7;4YDY;5FHX;

name:
Interleukin-4 (IL-4) (B-cell stimulatory factor 1) (BSF-1) (Binetrakin) (Lymphocyte stimulatory factor 1) (Pitrakinra)

sequence:
MGLTSQLLPPLFFLLACAGNFVHGHKCDITLQEIIKTLNSLTEQKTLCTELTVTDIFAASKNTTEKETFCRAATVLRQFYSHHEKDTRCLGATAQQFHRHKQLIRFLKRLDRNLWGLAGLNSCPVKEANQSTLENFLERLKTIMREKYSKCSS

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-4 receptor binding [GO:0005136]; activation of Janus kinase activity [GO:0042976]; B cell differentiation [GO:0030183]; cholesterol metabolic process [GO:0008203]; connective tissue growth factor biosynthetic process [GO:0045189]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell differentiation [GO:0097028]; immune response [GO:0006955]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of apoptotic process [GO:0043066]; negative regulation of complement-dependent cytotoxicity [GO:1903660]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-13 production [GO:0032736]; positive regulation of isotype switching to IgE isotypes [GO:0048295]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; positive regulation of macroautophagy [GO:0016239]; positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of immune response [GO:0050776]; regulation of isotype switching [GO:0045191]; regulation of phosphorylation [GO:0042325]; T cell activation [GO:0042110]; T-helper 2 cell cytokine production [GO:0035745]; type 2 immune response [GO:0042092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P05112-1; Sequence=Displayed; Name=2; Synonyms=Short, IL-4delta2; IsoId=P05112-2; Sequence=VSP_002672; 


uniprotID: P09488
geneSymbol: GSTM1
reactome: R-HSA-156590;
pdb: 1GTU;1XW6;1XWK;1YJ6;2F3M;
length: 218
go: ENSG00000134184;
drug: DB00993;DB01008;DB00958;DB00515;DB03314;DB00143;DB00526;DB02165;
snps: rs1065411 rs449856
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Glutathione S-transferase Mu 1 (EC 2.5.1.18) (GST HB subunit 4) (GST class-mu 1) (GSTM1-1) (GSTM1a-1a) (GSTM1b-1b) (GTH4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; enzyme binding [GO:0019899]; glutathione binding [GO:0043295]; glutathione transferase activity [GO:0004364]; protein homodimerization activity [GO:0042803]; cellular detoxification of nitrogen compound [GO:0070458]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; nitrobenzene metabolic process [GO:0018916]; xenobiotic catabolic process [GO:0042178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09488-1; Sequence=Displayed; Name=2; IsoId=P09488-2; Sequence=VSP_036618; 


uniprotID: P08887
geneSymbol: IL6R
reactome: R-HSA-1059683;R-HSA-110056;R-HSA-112411;R-HSA-6785807;
pdb: 1N26;1N2Q;1P9M;2ARW;5FUC;
length: 468
go: ENSG00000160712;
drug: DB06273;
snps: rs2228145 rs2228146
name:
Interleukin-6 receptor subunit alpha (IL-6 receptor subunit alpha) (IL-6R subunit alpha) (IL-6R-alpha) (IL-6RA) (IL-6R 1) (Membrane glycoprotein 80) (gp80) (CD antigen CD126)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; ciliary neurotrophic factor receptor complex [GO:0070110]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-12 complex [GO:0043514]; interleukin-23 complex [GO:0070743]; interleukin-6 receptor complex [GO:0005896]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ciliary neurotrophic factor binding [GO:0070119]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; enzyme binding [GO:0019899]; growth factor activity [GO:0008083]; interleukin-12 alpha subunit binding [GO:0042164]; interleukin-12 receptor binding [GO:0005143]; interleukin-23 receptor binding [GO:0045519]; interleukin-6 binding [GO:0019981]; interleukin-6 receptor activity [GO:0004915]; protein homodimerization activity [GO:0042803]; acute-phase response [GO:0006953]; ciliary neurotrophic factor-mediated signaling pathway [GO:0070120]; cytokine-mediated signaling pathway [GO:0019221]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; endocrine pancreas development [GO:0031018]; extrinsic apoptotic signaling pathway [GO:0097191]; hepatic immune response [GO:0002384]; interleukin-6-mediated signaling pathway [GO:0070102]; monocyte chemotaxis [GO:0002548]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of interleukin-8 production [GO:0032717]; neutrophil mediated immunity [GO:0002446]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemokine production [GO:0032722]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of leukocyte chemotaxis [GO:0002690]; positive regulation of lymphocyte proliferation [GO:0050671]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of natural killer cell activation [GO:0032816]; positive regulation of NK T cell activation [GO:0051135]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to cytokine [GO:0034097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P08887-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P08887-2; Sequence=VSP_001682, VSP_001683; 

location:
SUBCELLULAR LOCATION: Isoform 1: Basolateral cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: P28161
geneSymbol: GSTM2
reactome: R-HSA-156590;
pdb: 1HNA;1HNB;1HNC;1XW5;1YKC;2AB6;2C4J;2GTU;3GTU;3GUR;5HWL;
name: Glutathione S-transferase Mu 2 (EC 2.5.1.18) (GST class-mu 2) (GSTM2-2)
length: 218
go: ENSG00000213366;
drug: DB00143;DB03310;DB04701;
snps: rs2229050
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intercellular bridge [GO:0045171]; sarcoplasmic reticulum [GO:0016529]; enzyme binding [GO:0019899]; glutathione binding [GO:0043295]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; cellular detoxification of nitrogen compound [GO:0070458]; cellular response to caffeine [GO:0071313]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; linoleic acid metabolic process [GO:0043651]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; nitrobenzene metabolic process [GO:0018916]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [GO:0014809]; relaxation of cardiac muscle [GO:0055119]; xenobiotic catabolic process [GO:0042178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28161-1; Sequence=Displayed; Name=2; IsoId=P28161-2; Sequence=VSP_045614; Note=No experimental confirmation available.; 


uniprotID: P40189
geneSymbol: IL6ST
reactome: R-HSA-1059683;R-HSA-110056;R-HSA-112411;R-HSA-6788467;R-HSA-8984722;R-HSA-9020956;
pdb: 1BJ8;1BQU;1I1R;1N2Q;1P9M;1PVH;3L5H;3L5I;3L5J;
length: 918
go: ENSG00000134352;
snps: rs1063560 rs2228044 rs199905033 rs2228043 rs2228046 rs34417936
name:
Interleukin-6 receptor subunit beta (IL-6 receptor subunit beta) (IL-6R subunit beta) (IL-6R-beta) (IL-6RB) (CDw130) (Interleukin-6 signal transducer) (Membrane glycoprotein 130) (gp130) (Oncostatin-M receptor subunit alpha) (CD antigen CD130)

sequence:

opentargets:
ciliary neurotrophic factor receptor complex [GO:0070110]; dendrite [GO:0030425]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; interleukin-6 receptor complex [GO:0005896]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; oncostatin-M receptor complex [GO:0005900]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ciliary neurotrophic factor receptor activity [GO:0004897]; ciliary neurotrophic factor receptor binding [GO:0005127]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; growth factor binding [GO:0019838]; interleukin-11 binding [GO:0019970]; interleukin-11 receptor activity [GO:0004921]; interleukin-27 receptor activity [GO:0045509]; protein homodimerization activity [GO:0042803]; ciliary neurotrophic factor-mediated signaling pathway [GO:0070120]; cytokine-mediated signaling pathway [GO:0019221]; glycogen metabolic process [GO:0005977]; interleukin-27-mediated signaling pathway [GO:0070106]; interleukin-35-mediated signaling pathway [GO:0070757]; interleukin-6-mediated signaling pathway [GO:0070102]; leukemia inhibitory factor signaling pathway [GO:0048861]; negative regulation of apoptotic process [GO:0043066]; negative regulation of interleukin-6-mediated signaling pathway [GO:0070104]; oncostatin-M-mediated signaling pathway [GO:0038165]; positive regulation of acute inflammatory response [GO:0002675]; positive regulation of adaptive immune response [GO:0002821]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell proliferation [GO:0008284]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of Notch signaling pathway [GO:0008593]; response to cytokine [GO:0034097]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P40189-1; Sequence=Displayed; Name=2; Synonyms=GP130-RAPS; IsoId=P40189-2; Sequence=VSP_001684, VSP_001685; Name=3; IsoId=P40189-3; Sequence=VSP_043716; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:19915009}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:24629561}.


uniprotID: Q03013
geneSymbol: GSTM4
reactome: R-HSA-156590;R-HSA-9026762;
pdb: 4GTU;
name: Glutathione S-transferase Mu 4 (EC 2.5.1.18) (GST class-mu 4) (GST-Mu2) (GSTM4-4)
length: 218
go: ENSG00000168765;
drug: DB03706;DB03597;DB00143;DB03003;DB04132;DB03032;
snps: rs3211190 rs17838158 rs112611763 rs112330158 rs200675176 rs149370166
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; enzyme binding [GO:0019899]; glutathione binding [GO:0043295]; glutathione transferase activity [GO:0004364]; protein homodimerization activity [GO:0042803]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; long-chain fatty acid biosynthetic process [GO:0042759]; nitrobenzene metabolic process [GO:0018916]; xenobiotic catabolic process [GO:0042178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q03013-1; Sequence=Displayed; Name=2; IsoId=Q03013-2; Sequence=VSP_011773, VSP_011774; Name=3; IsoId=Q03013-3; Sequence=VSP_047688; 


uniprotID: Q9H4Y5
geneSymbol: GSTO2
reactome: R-HSA-156590;R-HSA-196836;
pdb: 3Q18;3Q19;3QAG;
length: 243
go: ENSG00000065621;
drug: DB00143;
snps: rs45582439 rs156697
name:
Glutathione S-transferase omega-2 (GSTO-2) (EC 2.5.1.18) (Glutathione S-transferase omega 2-2) (GSTO 2-2) (Glutathione-dependent dehydroascorbate reductase) (EC 1.8.5.1) (Monomethylarsonic acid reductase) (MMA(V) reductase) (EC 1.20.4.2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione dehydrogenase (ascorbate) activity [GO:0045174]; glutathione transferase activity [GO:0004364]; identical protein binding [GO:0042802]; methylarsonate reductase activity [GO:0050610]; oxidoreductase activity [GO:0016491]; cellular response to arsenic-containing substance [GO:0071243]; glutathione derivative biosynthetic process [GO:1901687]; L-ascorbic acid metabolic process [GO:0019852]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H4Y5-1; Sequence=Displayed; Name=2; IsoId=Q9H4Y5-2; Sequence=VSP_042567; Note=No experimental confirmation available.; Name=3; IsoId=Q9H4Y5-3; Sequence=VSP_045267; Note=No experimental confirmation available.; 


uniprotID: P09211
geneSymbol: GSTP1
reactome: R-HSA-156590;R-HSA-3299685;R-HSA-6798695;
name: Glutathione S-transferase P (EC 2.5.1.18) (GST class-pi) (GSTP1-1)
length: 210
go: ENSG00000084207;
snps: rs1695 rs1138272 rs41462048
pdb:
10GS;11GS;12GS;13GS;14GS;16GS;17GS;18GS;19GS;1AQV;1AQW;1AQX;1EOG;1EOH;1GSS;1KBN;1LBK;1MD3;1MD4;1PGT;1PX6;1PX7;1ZGN;20GS;22GS;2A2R;2A2S;2GSS;2J9H;2PGT;3CSH;3CSI;3CSJ;3DD3;3DGQ;3GSS;3GUS;3HJM;3HJO;3HKR;3IE3;3KM6;3KMN;3KMO;3N9J;3PGT;4GSS;4PGT;5DAK;5DAL;5DCG;5DDL;5DJL;5DJM;5GSS;5J41;5JCW;5L6X;5X79;6AP9;6GSS;7GSS;8GSS;9GSS;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; secretory granule lumen [GO:0034774]; TRAF2-GSTP1 complex [GO:0097057]; vesicle [GO:0031982]; dinitrosyl-iron complex binding [GO:0035731]; drug binding [GO:0008144]; glutathione binding [GO:0043295]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; JUN kinase binding [GO:0008432]; kinase regulator activity [GO:0019207]; nitric oxide binding [GO:0070026]; S-nitrosoglutathione binding [GO:0035730]; animal organ regeneration [GO:0031100]; cellular response to cell-matrix adhesion [GO:0071460]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to insulin stimulus [GO:0032869]; cellular response to lipopolysaccharide [GO:0071222]; central nervous system development [GO:0007417]; common myeloid progenitor cell proliferation [GO:0035726]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; linoleic acid metabolic process [GO:0043651]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of apoptotic process [GO:0043066]; negative regulation of biosynthetic process [GO:0009890]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of leukocyte proliferation [GO:0070664]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of monocyte chemotactic protein-1 production [GO:0071638]; negative regulation of nitric-oxide synthase biosynthetic process [GO:0051771]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of smooth muscle cell chemotaxis [GO:0071672]; negative regulation of stress-activated MAPK cascade [GO:0032873]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; neutrophil degranulation [GO:0043312]; nitric oxide storage [GO:0035732]; oligodendrocyte development [GO:0014003]; positive regulation of superoxide anion generation [GO:0032930]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of stress-activated MAPK cascade [GO:0032872]; response to amino acid [GO:0043200]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to L-ascorbic acid [GO:0033591]; response to reactive oxygen species [GO:0000302]; xenobiotic metabolic process [GO:0006805]

drug:
DB03814;DB01008;DB04972;DB04339;DB00958;DB00291;DB02633;DB00515;DB01242;DB00773;DB00143;DB03003;DB04077;DB00526;DB08370;DB03686;DB04132;DB01915;DB07849;DB05460;DB00163;

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19269317}. Mitochondrion {ECO:0000269|PubMed:19269317}. Nucleus {ECO:0000269|PubMed:19269317}. Note=The 83 N-terminal amino acids function as un uncleaved transit peptide, and arginine residues within it are crucial for mitochondrial localization.


uniprotID: P16871
geneSymbol: IL7R
reactome: R-HSA-1266695;R-HSA-8856825;R-HSA-8856828;
pdb: 3DI2;3DI3;3UP1;5J11;
length: 459
go: ENSG00000168685;
snps: rs1494558 rs11567735 rs1494555 rs6897932 rs3194051 rs2229232
name:
Interleukin-7 receptor subunit alpha (IL-7 receptor subunit alpha) (IL-7R subunit alpha) (IL-7R-alpha) (IL-7RA) (CDw127) (CD antigen CD127)

sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; cytokine receptor activity [GO:0004896]; interleukin-7 receptor activity [GO:0004917]; B cell proliferation [GO:0042100]; cell morphogenesis [GO:0000902]; cell surface receptor signaling pathway [GO:0007166]; homeostasis of number of cells [GO:0048872]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; interleukin-7-mediated signaling pathway [GO:0038111]; lymph node development [GO:0048535]; membrane organization [GO:0061024]; negative regulation of T cell apoptotic process [GO:0070233]; negative regulation of T cell mediated cytotoxicity [GO:0001915]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of STAT cascade [GO:1904894]; positive regulation of T cell differentiation in thymus [GO:0033089]; regulation of cell size [GO:0008361]; regulation of DNA recombination [GO:0000018]; signal transduction [GO:0007165]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=H20; IsoId=P16871-1; Sequence=Displayed; Name=3; Synonyms=H1; IsoId=P16871-2; Sequence=VSP_001714; Name=4; Synonyms=H6, Secreted; IsoId=P16871-3; Sequence=VSP_001713; Name=2; Synonyms=Secreted; IsoId=P16871-4; Sequence=VSP_012618, VSP_012619; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 4: Secreted.


uniprotID: P30711
geneSymbol: GSTT1
reactome: R-HSA-156590;
pdb: 2C3N;2C3Q;2C3T;
name: Glutathione S-transferase theta-1 (EC 2.5.1.18) (GST class-theta-1) (Glutathione transferase T1-1)
length: 240
go: ENSG00000277656;
drug: DB00958;DB00515;DB00773;DB00143;DB00526;
snps: rs2266635 rs2266633 rs2266637 rs2234953
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30711-1; Sequence=Displayed; Name=2; IsoId=P30711-2; Sequence=VSP_056474; Note=No experimental confirmation available.; 


uniprotID: P10145
geneSymbol: CXCL8
reactome: R-HSA-2559582;R-HSA-375276;R-HSA-380108;R-HSA-380994;R-HSA-418594;R-HSA-6783783;R-HSA-6785807;
pdb: 1ICW;1IKL;1IKM;1IL8;1ILP;1ILQ;1QE6;1ROD;2IL8;3IL8;4XDX;5D14;5WDZ;
sequence: MTSKLAVALLAAFLISAALCEGAVLPRSAKELRCQCIKTYSKPFHPKFIKELRVIESGPHCANTEIIVKLSDGRELCLDPKENWVQRVVEKFLKRAENS
length: 99
go: ENSG00000169429;
drug: DB05434;DB05484;DB05855;
location: SUBCELLULAR LOCATION: Secreted.
name:
Interleukin-8 (IL-8) (C-X-C motif chemokine 8) (Chemokine (C-X-C motif) ligand 8) (Emoctakin) (Granulocyte chemotactic protein 1) (GCP-1) (Monocyte-derived neutrophil chemotactic factor) (MDNCF) (Monocyte-derived neutrophil-activating peptide) (MONAP) (Neutrophil-activating protein 1) (NAP-1) (Protein 3-10C) (T-cell chemotactic factor) [Cleaved into: MDNCF-a (GCP/IL-8 protein IV) (IL8/NAP1 form I); Interleukin-8 ((Ala-IL-8)77) (GCP/IL-8 protein II) (IL-8(1-77)) (IL8/NAP1 form II) (MDNCF-b); IL-8(5-77); IL-8(6-77) ((Ser-IL-8)72) (GCP/IL-8 protein I) (IL8/NAP1 form III) (Lymphocyte-derived neutrophil-activating factor) (LYNAP) (MDNCF-c) (Neutrophil-activating factor) (NAF); IL-8(7-77) (GCP/IL-8 protein V) (IL8/NAP1 form IV); IL-8(8-77) (GCP/IL-8 protein VI) (IL8/NAP1 form V); IL-8(9-77) (GCP/IL-8 protein III) (IL8/NAP1 form VI)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; chemokine activity [GO:0008009]; interleukin-8 receptor binding [GO:0005153]; angiogenesis [GO:0001525]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; calcium-mediated signaling [GO:0019722]; cell cycle arrest [GO:0007050]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; embryonic digestive tract development [GO:0048566]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; induction of positive chemotaxis [GO:0050930]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; neutrophil activation [GO:0042119]; neutrophil chemotaxis [GO:0030593]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of angiogenesis [GO:0045766]; positive regulation of neutrophil chemotaxis [GO:0090023]; receptor internalization [GO:0031623]; regulation of cell adhesion [GO:0030155]; regulation of entry of bacterium into host cell [GO:2000535]; regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045091]; response to endoplasmic reticulum stress [GO:0034976]; response to molecule of bacterial origin [GO:0002237]; signal transduction [GO:0007165]


uniprotID: A0A1W2PR19
geneSymbol: GSTT4
length: 241
go: ENSG00000276950;
opentargets: cytoplasm [GO:0005737]; glutathione transferase activity [GO:0004364]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Glutathione S-transferase theta-4 (EC 2.5.1.18) (GST class-theta-4) (Glutathione S-transferase theta pseudogene 1)

sequence:


uniprotID: Q8NBJ5
geneSymbol: COLGALT1
reactome: R-HSA-1650814;
length: 622
go: ENSG00000130309;
name:
Procollagen galactosyltransferase 1 (EC 2.4.1.50) (Collagen beta(1-O)galactosyltransferase 1) (ColGalT 1) (Glycosyltransferase 25 family member 1) (Hydroxylysine galactosyltransferase 1)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; membrane [GO:0016020]; procollagen galactosyltransferase activity [GO:0050211]; positive regulation of collagen fibril organization [GO:1904028]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:20470363}. Note=Colocalized with PLOD3 and mannose binding lectin/MBL2. {ECO:0000269|PubMed:20470363}.


uniprotID: Q9BZM3
geneSymbol: GSX2
name: GS homeobox 2 (Genetic-screened homeobox 2) (Homeobox protein GSH-2)
length: 304
go: ENSG00000180613;
snps: rs13144341
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
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]; forebrain dorsal/ventral pattern formation [GO:0021798]; forebrain morphogenesis [GO:0048853]; hindbrain morphogenesis [GO:0021575]; neuron fate specification [GO:0048665]; olfactory bulb interneuron differentiation [GO:0021889]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of oligodendrocyte differentiation [GO:0048714]; regulation of cell migration [GO:0030334]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; spinal cord association neuron differentiation [GO:0021527]; subpallium neuron fate commitment [GO:0060163]; telencephalon regionalization [GO:0021978]


uniprotID: Q6EKJ0
geneSymbol: GTF2IRD2B
pdb: 2E3L;
length: 949
opentargets: nucleus [GO:0005634]; DNA binding [GO:0003677]; transition between fast and slow fiber [GO:0014883]
location: SUBCELLULAR LOCATION: Nucleus.
name:
General transcription factor II-I repeat domain-containing protein 2B (GTF2I repeat domain-containing protein 2B) (Transcription factor GTF2IRD2-beta)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6EKJ0-1; Sequence=Displayed; Name=2; IsoId=Q6EKJ0-2; Sequence=VSP_031605, VSP_031606; 


uniprotID: Q4AE62
geneSymbol: GTDC1
name: Glycosyltransferase-like domain-containing protein 1 (Mannosyltransferase-like protein Xa) (Mat-Xa)
length: 458
go: ENSG00000121964;
opentargets: transferase activity, transferring glycosyl groups [GO:0016757]
snps: rs3731958
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q4AE62-1; Sequence=Displayed; Name=2; IsoId=Q4AE62-2; Sequence=VSP_029379; Name=3; IsoId=Q4AE62-3; Sequence=VSP_029378; Name=4; Synonyms=c; IsoId=Q4AE62-4; Sequence=VSP_057598, VSP_057599; Note=No experimental confirmation available.; Name=5; Synonyms=f; IsoId=Q4AE62-5; Sequence=VSP_057597; Note=No experimental confirmation available.; Name=6; Synonyms=d; IsoId=Q4AE62-6; Sequence=VSP_057596; Note=No experimental confirmation available.; 


uniprotID: Q9H0C8
geneSymbol: ILKAP
name: Integrin-linked kinase-associated serine/threonine phosphatase 2C (ILKAP) (EC 3.1.3.16)
length: 392
go: ENSG00000132323;
snps: rs34371548
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11331582}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; protein serine/threonine phosphatase activity [GO:0004722]


uniprotID: O43824
geneSymbol: GTPBP6
name: Putative GTP-binding protein 6 (Pseudoautosomal GTP-binding protein-like)
length: 516
go: ENSG00000178605;
sequence:

opentargets:
cytoplasm [GO:0005737]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; ribosome binding [GO:0043022]


uniprotID: A4D1E9
geneSymbol: GTPBP10
name: GTP-binding protein 10 (Protein obg homolog 2) (ObgH2)
length: 387
go: ENSG00000105793;
snps: rs42663 rs42664 rs35001814 rs17863999
sequence:

opentargets:
chromosome [GO:0005694]; nucleolus [GO:0005730]; GTP binding [GO:0005525]; RNA binding [GO:0003723]; ribosome biogenesis [GO:0042254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A4D1E9-1; Sequence=Displayed; Name=2; IsoId=A4D1E9-2; Sequence=VSP_029880; Name=3; IsoId=A4D1E9-3; Sequence=VSP_029881, VSP_029882; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17054726}. Chromosome {ECO:0000269|PubMed:17054726}. Note=Found in the dense fibrillar compartment region of the nucleolus. At the onset of mitosis moves to the chromosome surface and remains there until anaphase. Gradually re-assembles into the nucleolus at late anaphase to telophase.


uniprotID: O00178
geneSymbol: GTPBP1
name: GTP-binding protein 1 (G-protein 1) (GP-1) (GP1)
length: 669
go: ENSG00000100226;
snps: rs11547402
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasmic exosome (RNase complex) [GO:0000177]; cytosol [GO:0005829]; membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation elongation factor activity [GO:0003746]; GTP metabolic process [GO:0046039]; immune response [GO:0006955]; positive regulation of mRNA catabolic process [GO:0061014]; signal transduction [GO:0007165]; translational elongation [GO:0006414]


uniprotID: P22732
geneSymbol: SLC2A5
reactome: R-HSA-6798695;R-HSA-8981373;
pdb: 1YG1;
length: 501
go: ENSG00000142583;
drug: DB09502;
name:
Solute carrier family 2, facilitated glucose transporter member 5 (Fructose transporter) (Glucose transporter type 5, small intestine) (GLUT-5)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; specific granule membrane [GO:0035579]; fructose binding [GO:0070061]; fructose transmembrane transporter activity [GO:0005353]; glucose transmembrane transporter activity [GO:0005355]; carbohydrate metabolic process [GO:0005975]; cellular response to fructose stimulus [GO:0071332]; fructose import across plasma membrane [GO:1990539]; fructose transmembrane transport [GO:0015755]; glucose transmembrane transport [GO:1904659]; intestinal hexose absorption [GO:0106001]; neutrophil degranulation [GO:0043312]; regulation of systemic arterial blood pressure mediated by a chemical signal [GO:0003044]; response to fructose [GO:0009750]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22732-1; Sequence=Displayed; Name=2; IsoId=P22732-2; Sequence=VSP_042031; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:Q9WV38}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9WV38}. Cell membrane {ECO:0000269|PubMed:1695905, ECO:0000269|PubMed:7619085, ECO:0000269|PubMed:8333543}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9WV38}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P43427}. Note=Localized on the apical membrane of jejunum villi, but also on lateral plasma membranes of the villi. Transport to the cell membrane is dependent on RAB11A. {ECO:0000250|UniProtKB:Q9WV38}.


uniprotID: Q9UGQ3
geneSymbol: SLC2A6
reactome: R-HSA-189200;
length: 507
go: ENSG00000160326;
drug: DB09502;
snps: rs3094378
name:
Solute carrier family 2, facilitated glucose transporter member 6 (Glucose transporter type 6) (GLUT-6) (Glucose transporter type 9) (GLUT-9)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; carbohydrate:proton symporter activity [GO:0005351]; D-glucose transmembrane transporter activity [GO:0055056]; glucose transmembrane transporter activity [GO:0005355]; hexose transmembrane transport [GO:0008645]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGQ3-1; Sequence=Displayed; Name=2; IsoId=Q9UGQ3-2; Sequence=VSP_041402; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=The dileucine internalization motif is critical for intracellular sequestration. {ECO:0000250}.


uniprotID: Q6PXP3
geneSymbol: SLC2A7
reactome: R-HSA-189200;
pdb: 1YG7;
length: 512
drug: DB09502;
snps: rs34545462 rs12402973
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 2, facilitated glucose transporter member 7 (Glucose transporter type 7) (GLUT-7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; sugar transmembrane transporter activity [GO:0051119]; hexose transmembrane transport [GO:0008645]


uniprotID: Q9NRM0
geneSymbol: SLC2A9
reactome: R-HSA-189200;R-HSA-5619047;
length: 540
go: ENSG00000109667;
drug: DB09502;DB00678;DB01032;DB08844;
name:
Solute carrier family 2, facilitated glucose transporter member 9 (Glucose transporter type 9) (GLUT-9)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate:proton symporter activity [GO:0005351]; glucose transmembrane transporter activity [GO:0005355]; transmembrane transporter activity [GO:0022857]; urate transmembrane transporter activity [GO:0015143]; glucose transmembrane transport [GO:1904659]; hexose transmembrane transport [GO:0008645]; urate metabolic process [GO:0046415]

snps:
rs2276961 rs863225072 rs181509591 rs144196049 rs776127501 rs376990050 rs121908322 rs561633150 rs112404957 rs73225891 rs16890979 rs3733591 rs145688560 rs2280205 rs121908321 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=SLC2A9-L; IsoId=Q9NRM0-1; Sequence=Displayed; Name=2; Synonyms=GLUT9deltaN, SLC2A9-S; IsoId=Q9NRM0-2; Sequence=VSP_034860; 

location:
SUBCELLULAR LOCATION: Isoform 1: Basolateral cell membrane {ECO:0000269|PubMed:14739288, ECO:0000269|PubMed:24409316}; Multi-pass membrane protein {ECO:0000269|PubMed:14739288}.; SUBCELLULAR LOCATION: Isoform 2: Apical cell membrane {ECO:0000269|PubMed:24409316}; Multi-pass membrane protein. Basolateral cell membrane {ECO:0000269|PubMed:14739288, ECO:0000269|PubMed:24409316}; Multi-pass membrane protein {ECO:0000269|PubMed:14739288}.


uniprotID: Q9NYZ3
geneSymbol: GTSE1
reactome: R-HSA-69481;R-HSA-8852276;
name: G2 and S phase-expressed protein 1 (GTSE-1) (Protein B99 homolog)
length: 720
snps: rs6008600 rs34404175 rs35503220 rs6008622 rs6008622 rs6008684 rs2281192 rs140054 rs16995138
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Associated with microtubules.
sequence:

opentargets:
cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; microtubule-based process [GO:0007017]; positive regulation of cell migration [GO:0030335]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein localization to nucleus [GO:1900182]; protein stabilization [GO:0050821]; regulation of cell cycle G2/M phase transition [GO:1902749]


uniprotID: Q9Y2T3
geneSymbol: GDA
reactome: R-HSA-74259;
pdb: 2UZ9;3E0L;4AQL;
length: 454
go: ENSG00000119125;
name:
Guanine deaminase (Guanase) (Guanine aminase) (EC 3.5.4.3) (Guanine aminohydrolase) (GAH) (p51-nedasin)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; guanine deaminase activity [GO:0008892]; zinc ion binding [GO:0008270]; guanine catabolic process [GO:0006147]; guanine metabolic process [GO:0046098]; nervous system development [GO:0007399]; nucleobase-containing compound metabolic process [GO:0006139]; purine nucleotide catabolic process [GO:0006195]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2T3-1; Sequence=Displayed; Name=2; Synonyms=c; IsoId=Q9Y2T3-2; Sequence=VSP_042075; Name=3; Synonyms=a; IsoId=Q9Y2T3-3; Sequence=VSP_042076; 


uniprotID: Q16661
geneSymbol: GUCA2B
reactome: R-HSA-8935690;
pdb: 1UYA;1UYB;
length: 112
go: ENSG00000044012;
snps: rs2297567
location: SUBCELLULAR LOCATION: Secreted.
name:
Guanylate cyclase activator 2B [Cleaved into: Guanylate cyclase C-activating peptide 2 (Guanylate cyclase C-activating peptide II) (GCAP-II); Uroguanylin (UGN)]

sequence:
MGCRAASGLLPGVAVVLLLLLQSTQSVYIQYQGFRVQLESMKKLSDLEAQWAPSPRLQAQSLLPAVCHHPALPQDLQPVCASQEASSIFKTLRTIANDDCELCVNVACTGCL

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; intracellular [GO:0005622]; photoreceptor outer segment [GO:0001750]; calcium sensitive guanylate cyclase activator activity [GO:0008048]; guanylate cyclase activator activity [GO:0030250]; body fluid secretion [GO:0007589]; cGMP-mediated signaling [GO:0019934]; digestion [GO:0007586]; excretion [GO:0007588]; negative regulation of blood pressure [GO:0045776]


uniprotID: P51841
geneSymbol: GUCY2F
reactome: R-HSA-2514859;
length: 1108
go: ENSG00000101890;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Retinal guanylyl cyclase 2 (RETGC-2) (EC 4.6.1.2) (Guanylate cyclase 2F, retinal) (Guanylate cyclase F) (GC-F) (Rod outer segment membrane guanylate cyclase 2) (ROS-GC2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; nuclear outer membrane [GO:0005640]; photoreceptor disc membrane [GO:0097381]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; peptide receptor activity [GO:0001653]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; signaling receptor activity [GO:0038023]; cGMP biosynthetic process [GO:0006182]; cGMP-mediated signaling [GO:0019934]; detection of light stimulus involved in visual perception [GO:0050908]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; signal transduction [GO:0007165]; visual perception [GO:0007601]

snps:
rs755991142 rs34228145 rs33971675 rs33973457 rs12008095 rs502209 rs55966326 rs16985750 rs2272925 rs56293008 rs779221554 rs7883913 rs35474112 rs35726803 rs148663380 rs55735218 


uniprotID: Q8N442
geneSymbol: GUF1
length: 669
go: ENSG00000151806;
snps: rs6447368 rs10470742 rs879255631
name:
Translation factor GUF1, mitochondrial (EC 3.6.5.-) (Elongation factor 4 homolog) (EF-4) (GTPase GUF1) (Ribosomal back-translocase)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; ribosome binding [GO:0043022]; positive regulation of translation [GO:0045727]; translation [GO:0006412]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03137}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03137}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03137}.


uniprotID: Q9UBP9
geneSymbol: GULP1
length: 304
go: ENSG00000144366;
name:
PTB domain-containing engulfment adapter protein 1 (Cell death protein 6 homolog) (PTB domain adapter protein CED-6) (Protein GULP)

sequence:

opentargets:
cytoplasm [GO:0005737]; apoptotic process [GO:0006915]; lipid transport [GO:0006869]; phagocytosis, engulfment [GO:0006911]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UBP9-1; Sequence=Displayed; Name=2; IsoId=Q9UBP9-2; Sequence=VSP_027250, VSP_027251; Name=3; IsoId=Q9UBP9-3; Sequence=VSP_044703; Note=No experimental confirmation available.; Name=4; IsoId=Q9UBP9-4; Sequence=VSP_045540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16497666}. Note=May associate with the cytoplasmic side of the plasma membrane and early endosomes.


uniprotID: Q8N7I0
geneSymbol: GVQW1
length: 195
name:
Protein GVQW1 (GVQW motif-containing protein 1) (Tigger transposable element-derived 1-like protein 2)

sequence:
MPNFLGLHRARSFTVLCFWSTADVLNASGPRRQWHPLASCSSWSRPQSQGSTPGVLCKTGMGREPIPETQCHFANSMCSLHVSVPYFGNSPNISNFFRWSLALSPRQWCDLGSLQPPSPRFKGFSCLSLPSSWDYRRAPSPANFCILVEMGFHHVGQADLELLTSADLPTSASQSAGITGVSHHAWPQTLSLLLY


uniprotID: A0A096LPI5
geneSymbol: GVQW2
name: Protein GVQW2 (GVQW motif-containing protein 2)
length: 108
go: ENSG00000279968;
sequence:
MQYPFRKLLRPSTESCCVAQARVQWCHLGSLQPPLPGFKQFSCHSLPSSWDYRWNLTLSPRLECSGAISAHCNLCLPDLSDSPASTSRVAGTTGAHHHAQEPVVIRKM


uniprotID: Q3ZCU0
geneSymbol: GVQW3
name: Protein GVQW3 (GVQW motif-containing protein 3)
length: 254
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3ZCU0-1; Sequence=Displayed; Name=2; IsoId=Q3ZCU0-2; Sequence=VSP_031695, VSP_031696; Note=No experimental confirmation available.; 


uniprotID: Q4G148
geneSymbol: GXYLT1
name: Glucoside xylosyltransferase 1 (EC 2.4.2.42) (Glycosyltransferase 8 domain-containing protein 3)
length: 440
go: ENSG00000151233;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; UDP-xylosyltransferase activity [GO:0035252]; O-glycan processing [GO:0016266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4G148-1; Sequence=Displayed; Name=2; IsoId=Q4G148-2; Sequence=VSP_025709; 


uniprotID: P16403
geneSymbol: HIST1H1C
reactome: R-HSA-211227;R-HSA-2559584;
name: Histone H1.2 (Histone H1c) (Histone H1d) (Histone H1s-1)
length: 213
go: ENSG00000187837;
snps: rs2230653 rs34810376 rs12111009
sequence:

opentargets:
nuclear euchromatin [GO:0005719]; nucleosome [GO:0000786]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; chromatin DNA binding [GO:0031490]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; chromosome condensation [GO:0030261]; histone H3-K27 trimethylation [GO:0098532]; histone H3-K4 trimethylation [GO:0080182]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Mainly localizes in euchromatin. Distribution goes in parallel with DNA concentration.


uniprotID: O14756
geneSymbol: HSD17B6
reactome: R-HSA-2453902;
length: 317
go: ENSG00000025423;
drug: DB00139;
name:
17-beta-hydroxysteroid dehydrogenase type 6 (17-beta-HSD 6) (17-beta-HSD6) (EC 1.1.1.105) (EC 1.1.1.239) (EC 1.1.1.62) (3-alpha->beta-hydroxysteroid epimerase) (3-alpha->beta-HSE) (Oxidative 3-alpha hydroxysteroid dehydrogenase) (Short chain dehydrogenase/reductase family 9C member 6)

sequence:

opentargets:
early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; intracellular [GO:0005622]; catalytic activity [GO:0003824]; electron transfer activity [GO:0009055]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; oxidoreductase activity [GO:0016491]; retinol dehydrogenase activity [GO:0004745]; testosterone dehydrogenase (NAD+) activity [GO:0047035]; androgen biosynthetic process [GO:0006702]; androgen catabolic process [GO:0006710]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:11360992}; Peripheral membrane protein {ECO:0000269|PubMed:11360992}; Lumenal side {ECO:0000269|PubMed:11360992}. Early endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Lumenal side {ECO:0000305}.


uniprotID: Q53T59
geneSymbol: HS1BP3
name: HCLS1-binding protein 3 (HS1-binding protein 3) (HSP1BP-3)
length: 392
go: ENSG00000118960;
snps: rs2305458 rs35589938 rs35579164 rs3732149
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; mitochondrion [GO:0005739]; phosphatidylinositol binding [GO:0035091]; regulation of apoptotic process [GO:0042981]


uniprotID: Q8IZA3
geneSymbol: H1FOO
name: Histone H1oo (Oocyte-specific histone H1) (Oocyte-specific linker histone H1) (osH1)
length: 346
snps: rs59415528
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; female germ cell nucleus [GO:0001674]; nucleosome [GO:0000786]; nucleus [GO:0005634]; double-stranded DNA binding [GO:0003690]; nucleosomal DNA binding [GO:0031492]; chromosome condensation [GO:0030261]; meiotic cell cycle [GO:0051321]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of DNA recombination [GO:0045910]; negative regulation of stem cell differentiation [GO:2000737]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; regulation of DNA methylation [GO:0044030]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZA3-1; Sequence=Displayed; Name=2; IsoId=Q8IZA3-2; Sequence=VSP_034592; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00837}. Chromosome {ECO:0000255|PROSITE-ProRule:PRU00837}.


uniprotID: Q96KK5
geneSymbol: HIST1H2AH
reactome: R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;
name: Histone H2A type 1-H (Histone H2A/s)
length: 128
go: ENSG00000274997;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKAK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]


uniprotID: P0C5Y9
geneSymbol: H2AFB1
name: Histone H2A-Bbd type 1 (H2A Barr body-deficient) (H2A.B) (H2A.Bbd)
length: 115
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPRRRRRRGSSGAGGRGRTCSRTVRAELSFSVSQVERSLREGHYAQRLSRTAPVYLAAVIEYLTAKVPELAGNEAQNSGERNITPLLLDMVVHNDRLLSTLFNTTTISQVAPGED

opentargets:
nuclear chromatin [GO:0000790]; nuclear nucleosome [GO:0000788]; nucleus [GO:0005634]; transcriptionally active chromatin [GO:0035327]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]; mRNA processing [GO:0006397]; nucleosome assembly [GO:0006334]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20008104, ECO:0000269|PubMed:24336483}. Chromosome {ECO:0000269|PubMed:20008104, ECO:0000269|PubMed:22795134, ECO:0000269|PubMed:24336483}. Note=Associated with the active X chromosome and with autosomes, while it is absent from the inactive X chromosome and excluded from Barr bodies. {ECO:0000269|PubMed:20008104}.


uniprotID: P0C0S8
geneSymbol: HIST1H2AG; HIST1H2AI; HIST1H2AK; HIST1H2AL; HIST1H2AM
reactome: R-HSA-3214815;R-HSA-3214847;R-HSA-3214858;R-HSA-5689603;R-HSA-5689880;R-HSA-5689901;
pdb: 4QYL;5KGF;
name: Histone H2A type 1 (H2A.1) (Histone H2A/ptl)
length: 130
go: ENSG00000196747;ENSG00000196787;ENSG00000275221;ENSG00000276903;ENSG00000278677;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKKTESHHKAKGK

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]


uniprotID: Q71UI9
geneSymbol: H2AFV
pdb: 3WAA;
name: Histone H2A.V (H2A.F/Z)
length: 128
go: ENSG00000105968;
snps: rs1802437
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Chromosome {ECO:0000250}.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-606279;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;

sequence:
MAGGKAGKDSGKAKAKAVSRSQRAGLQFPVGRIHRHLKTRTTSHGRVGATAAVYSAAILEYLTAEVLELAGNASKDLKVKRITPRHLQLAIRGDEELDSLIKATIAGGGVIPHIHKSLIGKKGQQKTA

opentargets:
extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; chromatin organization [GO:0006325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q71UI9-1; Sequence=Displayed; Name=2; IsoId=Q71UI9-2; Sequence=VSP_042855; Note=No experimental confirmation available.; Name=3; IsoId=Q71UI9-3; Sequence=VSP_044633; Note=No experimental confirmation available.; Name=4; IsoId=Q71UI9-4; Sequence=VSP_045232; Note=No experimental confirmation available.; Name=5; IsoId=Q71UI9-5; Sequence=VSP_046783; Note=No experimental confirmation available.; 


uniprotID: Q96A08
geneSymbol: HIST1H2BA
pdb: 3WKJ;5GSU;5GT3;6BIY;
name: Histone H2B type 1-A (Histone H2B, testis) (TSH2B.1) (hTSH2B) (Testis-specific histone H2B)
length: 127
go: ENSG00000146047;
sequence:
MPEVSSKGATISKKGFKKAVVKTQKKEGKKRKRTRKESYSIYIYKVLKQVHPDTGISSKAMSIMNSFVTDIFERIASEASRLAHYSKRSTISSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
extrinsic component of plasma membrane [GO:0019897]; nuclear chromosome, telomeric region [GO:0000784]; nuclear nucleosome [GO:0000788]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone binding [GO:0042393]; protein heterodimerization activity [GO:0046982]; inflammatory response [GO:0006954]; mononuclear cell migration [GO:0071674]; nucleosome assembly [GO:0006334]; nucleosome disassembly [GO:0006337]; plasminogen activation [GO:0031639]; positive regulation of binding [GO:0051099]; protein ubiquitination [GO:0016567]; spermatogenesis, exchange of chromosomal proteins [GO:0035093]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P70696}. Chromosome {ECO:0000250|UniProtKB:P70696}.


uniprotID: P16104
geneSymbol: H2AFX
pdb: 1YDP;2AZM;2D31;2DYP;3SHV;3SQD;3SZM;3U3Z;
name: Histone H2AX (H2a/x) (Histone H2A.X)
length: 143
go: ENSG00000188486;
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214858;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MSGRGKTGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGHYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKKTSATVGPKAPSGGKKATQASQEY

opentargets:
centrosome [GO:0005813]; condensed nuclear chromosome [GO:0000794]; extracellular exosome [GO:0070062]; male germ cell nucleus [GO:0001673]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; replication fork [GO:0005657]; site of DNA damage [GO:0090734]; site of double-strand break [GO:0035861]; XY body [GO:0001741]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; histone binding [GO:0042393]; protein heterodimerization activity [GO:0046982]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; cellular senescence [GO:0090398]; cerebral cortex development [GO:0021987]; chromatin organization [GO:0006325]; DNA damage checkpoint [GO:0000077]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; meiotic cell cycle [GO:0051321]; nucleosome assembly [GO:0006334]; positive regulation of DNA repair [GO:0045739]; response to ionizing radiation [GO:0010212]; spermatogenesis [GO:0007283]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12419185, ECO:0000269|PubMed:12660252, ECO:0000269|PubMed:12697768, ECO:0000269|PubMed:15613478, ECO:0000269|PubMed:24429368}. Chromosome {ECO:0000269|PubMed:10959836, ECO:0000269|PubMed:11673449, ECO:0000269|PubMed:12607005, ECO:0000269|PubMed:12660252, ECO:0000269|PubMed:15059890, ECO:0000269|PubMed:15201865, ECO:0000269|PubMed:15613478}.


uniprotID: P33778
geneSymbol: HIST1H2BB
pdb: 3X1S;3X1U;
name: Histone H2B type 1-B (Histone H2B.1) (Histone H2B.f) (H2B/f)
length: 126
go: ENSG00000276410;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPEPSKSAPAPKKGSKKAITKAQKKDGKKRKRSRKESYSIYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: Q93079
geneSymbol: HIST1H2BH
name: Histone H2B type 1-H (Histone H2B.j) (H2B/j)
length: 126
go: ENSG00000275713;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
sequence:
MPDPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; protein heterodimerization activity [GO:0046982]; STAT family protein binding [GO:0097677]; ubiquitin-like protein ligase binding [GO:0044389]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: Q9UJM8
geneSymbol: HAO1
reactome: R-HSA-389661;R-HSA-9033241;
pdb: 2NZL;2RDT;2RDU;2RDW;2W0U;5QIB;5QIC;5QID;5QIE;5QIF;5QIG;5QIH;6GMB;6GMC;
name: Hydroxyacid oxidase 1 (HAOX1) (EC 1.1.3.15) (Glycolate oxidase) (GOX)
length: 370
go: ENSG00000101323;
drug: DB07907;DB07060;DB03884;DB02279;DB02164;DB03247;
location: SUBCELLULAR LOCATION: Peroxisome.
sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; (S)-2-hydroxy-acid oxidase activity [GO:0003973]; FMN binding [GO:0010181]; glycolate oxidase activity [GO:0008891]; glyoxylate oxidase activity [GO:0047969]; long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity [GO:0052853]; medium-chain-(S)-2-hydroxy-acid oxidase activity [GO:0052854]; signaling receptor binding [GO:0005102]; very-long-chain-(S)-2-hydroxy-acid oxidase activity [GO:0052852]; cellular nitrogen compound metabolic process [GO:0034641]; fatty acid alpha-oxidation [GO:0001561]; glycolate catabolic process [GO:0046296]; protein targeting to peroxisome [GO:0006625]; response to oxidative stress [GO:0006979]


uniprotID: P02008
geneSymbol: HBZ
pdb: 1JEB;3W4U;
name: Hemoglobin subunit zeta (HBAZ) (Hemoglobin zeta chain) (Zeta-globin)
length: 142
go: ENSG00000130656;
sequence:
MSLTKTERTIIVSMWAKISTQADTIGTETLERLFLSHPQTKTYFPHFDLHPGSAQLRAHGSKVVAAVGDAVKSIDDIGGALSKLSELHAYILRVDPVNFKLLSHCLLVTLAARFPADFTAEAHAAWDKFLSVVSSVLTEKYR

opentargets:
extracellular exosome [GO:0070062]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; cellular oxidant detoxification [GO:0098869]; erythrocyte maturation [GO:0043249]; hydrogen peroxide catabolic process [GO:0042744]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein heterooligomerization [GO:0051291]


uniprotID: P68871
geneSymbol: HBB
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-2168880;R-HSA-6798695;R-HSA-983231;
length: 147
go: ENSG00000244734;
drug: DB07427;DB07428;DB02126;DB00893;DB07645;
pdb:
1A00;1A01;1A0U;1A0Z;1A3N;1A3O;1ABW;1ABY;1AJ9;1B86;1BAB;1BBB;1BIJ;1BUW;1BZ0;1BZ1;1BZZ;1C7B;1C7C;1C7D;1CBL;1CBM;1CH4;1CLS;1CMY;1COH;1DKE;1DXT;1DXU;1DXV;1FN3;1G9V;1GBU;1GBV;1GLI;1GZX;1HAB;1HAC;1HBA;1HBB;1HBS;1HCO;1HDB;1HGA;1HGB;1HGC;1HHO;1IRD;1J3Y;1J3Z;1J40;1J41;1J7S;1J7W;1J7Y;1JY7;1K0Y;1K1K;1KD2;1LFL;1LFQ;1LFT;1LFV;1LFY;1LFZ;1LJW;1M9P;1MKO;1NEJ;1NIH;1NQP;1O1I;1O1J;1O1K;1O1L;1O1M;1O1N;1O1O;1O1P;1QI8;1QSH;1QSI;1QXD;1QXE;1R1X;1R1Y;1RPS;1RQ3;1RQ4;1RQA;1RVW;1SDK;1SDL;1THB;1UIW;1VWT;1XXT;1XY0;1XYE;1XZ2;1XZ4;1XZ5;1XZ7;1XZU;1XZV;1Y09;1Y0A;1Y0C;1Y0D;1Y0T;1Y0W;1Y22;1Y2Z;1Y31;1Y35;1Y45;1Y46;1Y4B;1Y4F;1Y4G;1Y4P;1Y4Q;1Y4R;1Y4V;1Y5F;1Y5J;1Y5K;1Y7C;1Y7D;1Y7G;1Y7Z;1Y83;1Y85;1Y8W;1YDZ;1YE0;1YE1;1YE2;1YEN;1YEO;1YEQ;1YEU;1YEV;1YFF;1YG5;1YGD;1YGF;1YH9;1YHE;1YHR;1YIE;1YIH;1YVQ;1YVT;1YZI;2D5Z;2D60;2DN1;2DN2;2DN3;2DXM;2H35;2HBC;2HBD;2HBE;2HBF;2HBS;2HCO;2HHB;2HHD;2HHE;2M6Z;2W6V;2W72;2YRS;3B75;3D17;3D7O;3DUT;3HHB;3HXN;3IC0;3IC2;3KMF;3NL7;3NMM;3ODQ;3ONZ;3OO4;3OO5;3P5Q;3QJB;3QJC;3QJD;3QJE;3R5I;3S65;3S66;3SZK;3W4U;3WCP;3WHM;4FC3;4HHB;4IJ2;4L7Y;4M4A;4M4B;4MQC;4MQG;4MQH;4MQI;4N7N;4N7O;4N7P;4N8T;4NI0;4NI1;4ROL;4ROM;4WJG;4X0L;4XS0;5E29;5E6E;5E83;5EE4;5HU6;5HY8;5JDO;5KDQ;5KSI;5KSJ;5NI1;5SW7;5U3I;5UCU;5UFJ;5URC;5VMM;5WOG;5WOH;5X2R;5X2S;5X2T;5X2U;6BB5;6BNR;6BWP;6BWU;6DI4;6FQF;6HBW;

name:
Hemoglobin subunit beta (Beta-globin) (Hemoglobin beta chain) [Cleaved into: LVV-hemorphin-7; Spinorphin]

sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; tertiary granule lumen [GO:1904724]; heme binding [GO:0020037]; hemoglobin alpha binding [GO:0031721]; hemoglobin binding [GO:0030492]; metal ion binding [GO:0046872]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; bicarbonate transport [GO:0015701]; blood coagulation [GO:0007596]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; neutrophil degranulation [GO:0043312]; nitric oxide transport [GO:0030185]; oxygen transport [GO:0015671]; platelet aggregation [GO:0070527]; positive regulation of cell death [GO:0010942]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; protein heterooligomerization [GO:0051291]; receptor-mediated endocytosis [GO:0006898]; regulation of blood pressure [GO:0008217]; regulation of blood vessel size [GO:0050880]; renal absorption [GO:0070293]; response to hydrogen peroxide [GO:0042542]

snps:
rs33949930 rs35906307 rs713040 rs33983205 rs35906307 rs34769005 rs334 rs33930165 rs33930165 rs334 rs34387455 rs34948328 rs33926764 rs33926764 rs33932981 rs33918131 rs33947457 rs33947457 rs35140348 rs33974228 rs35203747 rs33935445 rs33935445 rs33946157 rs33946157 rs33962676 rs63751285 rs33986703 rs36006214 rs33986703 rs35802118 rs34866629 rs63750840 rs33972047 rs35890959 rs33977536 rs33950093 rs33950093 rs33950093 rs33936254 rs33936254 rs33959855 rs33959855 rs33936254 rs33945546 rs33929459 rs33945546 rs34160180 rs33968721 rs33972975 rs33968721 rs35474880 rs34404985 rs33950507 rs33915112 rs33954632 rs35424040 rs33954632 rs33916412 rs33916412 rs35685286 rs1135071 rs33920173 rs33948578 rs34314652 rs1135101 rs1141387 rs1141387 rs35857380 rs33993004 rs33948615 rs33948615 rs33994623 rs33994623 rs33991059 rs34703513 rs11549407 rs11549407 rs35973315 rs33926796 rs33924146 rs34378160 rs33922842 rs34868397 rs33978338 rs35303218 rs33980484 rs33980484 rs33932070 rs33952850 rs33960931 rs33969727 rs33919924 rs33961886 rs34037627 rs35094013 rs33935983 rs35278874 rs33991472 rs33969400 rs33931779 rs33995148 rs34974709 rs34446260 rs34151786 rs34933455 rs33922873 rs33932548 rs35747961 rs35353749 rs35939489 rs33918343 rs33918343 rs36008922 rs33972593 rs33972593 rs34718174 rs33947415 rs33947415 rs33946401 rs34362537 rs33967755 rs33967755 rs33945705 rs33916541 rs33976006 rs33950542 rs33950542 rs33985847 rs33991294 rs33952543 rs33991294 rs34870172 rs33990858 rs35890380 rs33936967 rs33936967 rs11549406 rs33987903 rs33991993 rs1803195 rs33930385 rs35914488 rs35819837 rs33993568 rs33993568 rs35553496 rs33940204 rs33940204 rs33917628 rs35351128 rs35002698 rs33913712 rs33917785 rs33917785 rs33924775 rs33924775 rs33974325 rs34083951 rs33972927 rs34579351 rs33959340 rs33959340 rs35204496 rs36038739 rs36081208 rs34665886 rs33951978 rs33951978 rs34515413 rs33950993 rs33985510 rs34013622 rs33965000 rs33965000 rs35209591 rs33937393 rs33966487 rs33966487 rs33948057 rs33927739 rs35067717 rs33914944 rs33911434 rs35017910 rs34933751 rs33969677 rs35256489 rs35871407 rs33932908 rs35849199 rs33932908 rs33917394 rs36015961 rs35485099 rs34945623 rs33978082 rs35209776 rs33935673 rs33935673 rs33935527 rs33947020 rs33924134 rs34303736 rs33924134 rs33987957 rs33987957 rs33946267 rs33946267 rs33987957 rs33935383 rs33983276 rs33983276 rs35461710 rs33925391 rs33925391 rs33925391 rs33971634 rs33971634 rs33957286 rs35939430 rs111645889 rs35834416 rs33937535 rs33910209 rs33910209 rs33950778 rs33950778 rs33946775 rs33953406 rs34095019 rs33966761 rs35669628 rs35492035 rs33949486 rs33919821 rs33910475 rs34240441 rs33910475 rs33927093 rs34980264 rs33927093 rs35854892 rs33921821 rs33929415 rs33918338 rs36020563 rs33918338 rs33964352 rs35117167 rs33949869 rs33961444 rs33954264 rs33954264 rs33985739 


uniprotID: P02042
geneSymbol: HBD
reactome: R-HSA-983231;
pdb: 1SHR;1SI4;
name: Hemoglobin subunit delta (Delta-globin) (Hemoglobin delta chain)
length: 147
go: ENSG00000223609;
sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; hemoglobin alpha binding [GO:0031721]; metal ion binding [GO:0046872]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; blood coagulation [GO:0007596]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; protein heterooligomerization [GO:0051291]

snps:
rs34991152 rs35433207 rs35433207 rs35406175 rs35406175 rs34090605 rs34313675 rs34012192 rs34093840 rs35395083 rs34460332 rs34389944 rs34289459 rs35152987 rs34383555 rs36084266 rs35166721 rs34977235 rs34489183 rs35666685 rs35913713 rs63750423 rs34430836 rs35633566 rs63750674 rs34933313 rs34420481 rs28933077 rs28933076 rs35329985 rs34390965 rs33971270 rs34536353 rs36049174 rs35790721 rs36078803 rs34802738 rs35849348 rs63750461 rs33956485 rs35848600 rs34149886 


uniprotID: Q99075
geneSymbol: HBEGF
pdb: 1XDT;2M8S;
length: 208
go: ENSG00000113070;
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1257604;R-HSA-1963640;R-HSA-1963642;R-HSA-2179392;R-HSA-2219530;R-HSA-5336415;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8857538;R-HSA-8863795;

name:
Proheparin-binding EGF-like growth factor [Cleaved into: Heparin-binding EGF-like growth factor (HB-EGF) (HBEGF) (Diphtheria toxin receptor) (DT-R)]

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cell chemotaxis [GO:0060326]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; MAPK cascade [GO:0000165]; muscle organ development [GO:0007517]; negative regulation of elastin biosynthetic process [GO:0051545]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of wound healing [GO:0090303]; regulation of cell motility [GO:2000145]; regulation of heart contraction [GO:0008016]; signal transduction [GO:0007165]; wound healing, spreading of epidermal cells [GO:0035313]

location:
SUBCELLULAR LOCATION: Heparin-binding EGF-like growth factor: Secreted, extracellular space. Note=Mature HB-EGF is released into the extracellular space and probably binds to a receptor.; SUBCELLULAR LOCATION: Proheparin-binding EGF-like growth factor: Cell membrane; Single-pass type I membrane protein.


uniprotID: P02100
geneSymbol: HBE1
reactome: R-HSA-983231;
pdb: 1A9W;
name: Hemoglobin subunit epsilon (Epsilon-globin) (Hemoglobin epsilon chain)
length: 147
go: ENSG00000213931;
sequence:
MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFDSFGNLSSPSAILGNPKVKAHGKKVLTSFGDAIKNMDNLKPAFAKLSELHCDKLHVDPENFKLLGNVMVIILATHFGKEFTPEVQAAWQKLVSAVAIALAHKYH

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; hemoglobin alpha binding [GO:0031721]; metal ion binding [GO:0046872]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; blood coagulation [GO:0007596]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; protein heterooligomerization [GO:0051291]; response to organic cyclic compound [GO:0014070]


uniprotID: P69891
geneSymbol: HBG1
reactome: R-HSA-983231;
pdb: 1I3D;1I3E;
length: 147
name:
Hemoglobin subunit gamma-1 (Gamma-1-globin) (Hb F Agamma) (Hemoglobin gamma-1 chain) (Hemoglobin gamma-A chain)

sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

opentargets:
cytosol [GO:0005829]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; blood coagulation [GO:0007596]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; protein heterooligomerization [GO:0051291]

snps:
rs35315638 rs34427034 rs34432567 rs33924825 rs33992775 rs33970907 rs35957832 rs41404150 rs35700518 rs35977759 rs33974602 rs41475844 rs35746147 rs34747494 rs281860594 rs1061234 rs63751148 rs63751148 rs33963857 rs41330850 rs35849660 


uniprotID: Q6B0K9
geneSymbol: HBM
name: Hemoglobin subunit mu (Hemoglobin mu chain) (Mu-globin)
length: 141
go: ENSG00000206177;
sequence:
MLSAQERAQIAQVWDLIAGHEAQFGAELLLRLFTVYPSTKVYFPHLSACQDATQLLSHGQRMLAAVGAAVQHVDNLRAALSPLADLHALVLRVDPANFPLLIQCFHVVLASHLQDEFTVQMQAAWDKFLTGVAVVLTEKYR

opentargets:
haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; protein heterooligomerization [GO:0051291]


uniprotID: Q9Y450
geneSymbol: HBS1L
reactome: R-HSA-429958;
pdb: 5LZW;5LZX;5LZY;5LZZ;
name: HBS1-like protein (ERFS)
length: 684
go: ENSG00000112339;
snps: rs4435957
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; translation elongation factor activity [GO:0003746]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; signal transduction [GO:0007165]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y450-1; Sequence=Displayed; Name=2; IsoId=Q9Y450-2; Sequence=VSP_013624; Name=3; IsoId=Q9Y450-4; Sequence=VSP_041068; 


uniprotID: Q96LU5
geneSymbol: IMMP1L
name: Mitochondrial inner membrane protease subunit 1 (EC 3.4.21.-) (IMP1-like protein)
length: 166
go: ENSG00000148950;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:15814844}.
sequence:
MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQRGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRCYGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD

opentargets:
mitochondrial inner membrane peptidase complex [GO:0042720]; mitochondrion [GO:0005739]; serine-type peptidase activity [GO:0008236]; protein processing involved in protein targeting to mitochondrion [GO:0006627]


uniprotID: Q96T52
geneSymbol: IMMP2L
name: Mitochondrial inner membrane protease subunit 2 (EC 3.4.21.-) (IMP2-like protein)
length: 175
go: ENSG00000184903;
sequence:
MAQSQGWVKRYIKAFCKGFFVAVPVAVTFLDRVACVARVEGASMQPSLNPGGSQSSDVVLLNHWKVRNFEVHRGDIVSLVSPKNPEQKIIKRVIALEGDIVRTIGHKNRYVKVPRGHIWVEGDHHGHSFDSNSFGPVSLGLLHAHATHILWPPERWQKLESVLPPERLPVQREEE

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane peptidase complex [GO:0042720]; peptidase activity [GO:0008233]; serine-type peptidase activity [GO:0008236]; blood circulation [GO:0008015]; brain development [GO:0007420]; cellular response to DNA damage stimulus [GO:0006974]; cerebellum vasculature development [GO:0061300]; mitochondrial respiratory chain complex assembly [GO:0033108]; ovarian follicle development [GO:0001541]; ovulation [GO:0030728]; protein processing involved in protein targeting to mitochondrion [GO:0006627]; respiratory electron transport chain [GO:0022904]; signal peptide processing [GO:0006465]; spermatogenesis [GO:0007283]; superoxide metabolic process [GO:0006801]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96T52-1; Sequence=Displayed; Name=2; IsoId=Q96T52-2; Sequence=VSP_021474, VSP_021475; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:15814844}; Single-pass membrane protein {ECO:0000305|PubMed:15814844}.


uniprotID: Q9BYQ7
geneSymbol: KRTAP4-1
reactome: R-HSA-6805567;
length: 146
go: ENSG00000198443;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs2320231 rs35382039 rs398825
name:
Keratin-associated protein 4-1 (Keratin-associated protein 4-10) (Keratin-associated protein 4.1) (Keratin-associated protein 4.10) (Ultrahigh sulfur keratin-associated protein 4.10)

sequence:
MVNSCCGSVCSDQGCDQGLCQETCCRPSCCQTTCCCPSCVVSSCCRPSCSQTTCCQTTCCRPSCCHPVCCQTTCRPSCGVSSCCRPLCCQTTCHPSCGMSSCCRPLCCQTTCRPSCGVSSCCRPLCCQTTCCRATCCRPSCCGSSC


uniprotID: O95751
geneSymbol: LDOC1
name: Protein LDOC1 (Leucine zipper protein down-regulated in cancer cells)
length: 146
go: ENSG00000182195;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10403563}.
sequence:
MVDELVLLLHALLMRHRALSIENSQLMEQLRLLVCERASLLRQVRPPSCPVPFPETFNGESSRLPEFIVQTASYMLVNENRFCNDAMKVAFLISLLTGEAEEWVVPYIEMDSPILGDYRAFLDEMKQCFGWDDDEDDDDEEEEDDY

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to muramyl dipeptide [GO:0071225]; maternal placenta development [GO:0001893]; maternal process involved in parturition [GO:0060137]; negative regulation of cell proliferation [GO:0008285]; regulation of growth hormone activity [GO:1903547]


uniprotID: P11137
geneSymbol: MAP2
name: Microtubule-associated protein 2 (MAP-2)
length: 1827
go: ENSG00000078018;
drug: DB01248;DB01196;DB01229;
snps: rs2271251 rs6749066 rs741006 rs146432517 rs13425372 rs35927101 rs17745550
sequence:

opentargets:
apical distal dendrite [GO:0150014]; axon hillock [GO:0043203]; axon initial segment [GO:0043194]; basal dendrite [GO:0097441]; CA3 pyramidal cell dendrite [GO:0097442]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendrite cytoplasm [GO:0032839]; dendritic branch [GO:0044307]; dendritic filopodium [GO:1902737]; dendritic growth cone [GO:0044294]; dendritic shaft [GO:0043198]; distal dendrite [GO:0150002]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nuclear periphery [GO:0034399]; nucleolus [GO:0005730]; postsynaptic density [GO:0014069]; primary dendrite [GO:0150001]; proximal dendrite [GO:1990635]; proximal neuron projection [GO:1990769]; calmodulin binding [GO:0005516]; dystroglycan binding [GO:0002162]; microtubule binding [GO:0008017]; structural molecule activity [GO:0005198]; axonogenesis [GO:0007409]; cellular response to organic substance [GO:0071310]; central nervous system neuron development [GO:0021954]; dendrite development [GO:0016358]; dendrite morphogenesis [GO:0048813]; establishment of cell polarity [GO:0030010]; microtubule bundle formation [GO:0001578]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of axon extension [GO:0030517]; negative regulation of microtubule binding [GO:1904527]; negative regulation of microtubule motor activity [GO:2000575]; negative regulation of microtubule polymerization [GO:0031115]; neuron projection development [GO:0031175]; positive regulation of anterograde dense core granule transport [GO:1901953]; positive regulation of anterograde synaptic vesicle transport [GO:1903744]; regulation of cellular protein localization [GO:1903827]; regulation of microtubule polymerization [GO:0031113]; regulation of organelle transport along microtubule [GO:1902513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=MAP2b; IsoId=P11137-1; Sequence=Displayed; Name=2; Synonyms=MAP2c; IsoId=P11137-2; Sequence=VSP_003197; Name=3; IsoId=P11137-3; Sequence=VSP_011302; Name=4; IsoId=P11137-4; Sequence=VSP_043596, VSP_043597, VSP_043598; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:P20357}.


uniprotID: Q7Z429
geneSymbol: GRINA
length: 371
go: ENSG00000178719;
snps: rs17854152
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Protein lifeguard 1 (Glutamate [NMDA] receptor-associated protein 1) (NMDA receptor glutamate-binding subunit) (Putative MAPK-activating protein PM02) (Transmembrane BAX inhibitor motif-containing protein 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; ion channel binding [GO:0044325]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]


uniprotID: Q8IV50
geneSymbol: LYSMD2
name: LysM and putative peptidoglycan-binding domain-containing protein 2
length: 215
go: ENSG00000140280;
snps: rs3751593 rs7168775
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IV50-1; Sequence=Displayed; Name=2; IsoId=Q8IV50-2; Sequence=VSP_020123; Note=No experimental confirmation available.; 


uniprotID: O75951
geneSymbol: LYZL6
name: Lysozyme-like protein 6 (EC 3.2.1.17)
length: 148
go: ENSG00000275722;
snps: rs9754
sequence:
MTKALLIYLVSSFLALNQASLISRCDLAQVLQLEDLDGFEGYSLSDWLCLAFVESKFNISKINENADGSFDYGLFQINSHYWCNDYKSYSENLCHVDCQDLLNPNLLAGIHCAKRIVSGARGMNNWVEWRLHCSGRPLFYWLTGCRLR

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; sperm midpiece [GO:0097225]; sperm plasma membrane [GO:0097524]; lysozyme activity [GO:0003796]; cytolysis [GO:0019835]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; fertilization [GO:0009566]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; metabolic process [GO:0008152]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28182716}. Cell surface {ECO:0000269|PubMed:28182716}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q9DA11}. Note=Detected on the postacrosomal membrane of mature spermatozoa (PubMed:28182716). {ECO:0000269|PubMed:28182716}.


uniprotID: P0DP75
geneSymbol: MED14OS
length: 135
name:
Putative uncharacterized protein MED14OS (MED14 antisense gene protein 1) (MED14 opposite strand protein)

sequence:
MRSSSLPGARSPRRNGSGQSRHRLPPGRLRTGSRAPTAEARPHVARSPPTPGTGARGGGRRGWGGSRAAPQRGSCASANAQKQLRQTAATYMLTARGGSRSAERKGDLQRTFRQVGQTMPMVPPLDFTMNAASVE


uniprotID: Q9BXT6
geneSymbol: MOV10L1
reactome: R-HSA-5601884;
length: 1211
go: ENSG00000073146;
snps: rs12628964 rs9617066 rs3810971 rs760749 rs2340601 rs3736689 rs2272837 rs2272843
name:
RNA helicase Mov10l1 (EC 3.6.4.13) (Moloney leukemia virus 10-like protein 1) (MOV10-like protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; P granule [GO:0043186]; pi-body [GO:0071546]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; magnesium ion binding [GO:0000287]; RNA binding [GO:0003723]; DNA methylation involved in gamete generation [GO:0043046]; germ cell development [GO:0007281]; male meiosis I [GO:0007141]; multicellular organism development [GO:0007275]; piRNA metabolic process [GO:0034587]; posttranscriptional gene silencing by RNA [GO:0035194]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9BXT6-1; Sequence=Displayed; Name=2; IsoId=Q9BXT6-2; Sequence=VSP_003390, VSP_003391; Name=3; IsoId=Q9BXT6-3; Sequence=VSP_010945, VSP_010946, VSP_010947, VSP_010948; Note=No experimental confirmation available.; Name=4; IsoId=Q9BXT6-4; Sequence=VSP_045413; Note=No experimental confirmation available.; Name=5; IsoId=Q9BXT6-5; Sequence=VSP_046082, VSP_046083; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99MV5}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:Q99MV5}.


uniprotID: Q9NPA3
geneSymbol: MID1IP1
reactome: R-HSA-200425;
length: 183
go: ENSG00000165175;
name:
Mid1-interacting protein 1 (Gastrulation-specific G12-like protein) (Mid1-interacting G12-like protein) (Protein STRAIT11499) (Spot 14-related protein) (S14R) (Spot 14-R)

sequence:
MMQICDTYNQKHSLFNAMNRFIGAVNNMDQTVMVPSLLRDVPLADPGLDNDVGVEVGGSGGCLEERTPPVPDSGSANGSFFAPSRDMYSHYVLLKSIRNDIEWGVLHQPPPPAGSEEGSAWKSKDILVDLGHLEGADAGEEDLEQQFHYHLRGLHTVLSKLTRKANILTNRYKQEIGFGNWGH

opentargets:
cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; carnitine shuttle [GO:0006853]; lipid metabolic process [GO:0006629]; negative regulation of microtubule depolymerization [GO:0007026]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of ligase activity [GO:0051351]; protein polymerization [GO:0051258]; regulation of lipid biosynthetic process [GO:0046890]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9CQ20}. Cytoplasm {ECO:0000250|UniProtKB:Q9CQ20}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9CQ20}. Note=Associated with microtubules. {ECO:0000250|UniProtKB:Q9CQ20}.


uniprotID: Q6ZN16
geneSymbol: MAP3K15
length: 1313
go: ENSG00000180815;
snps: rs5909299 rs55916006 rs56338727 rs56212339 rs41305349 rs56381411 rs56233219 rs55787622 rs15943
name:
Mitogen-activated protein kinase kinase kinase 15 (EC 2.7.11.25) (Apoptosis signal-regulating kinase 3) (MAPK/ERK kinase kinase 15) (MEK kinase 15) (MEKK 15)

sequence:

opentargets:
intracellular [GO:0005622]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; activation of MAPKK activity [GO:0000186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZN16-1; Sequence=Displayed; Name=2; IsoId=Q6ZN16-2; Sequence=VSP_021038; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZN16-3; Sequence=VSP_021039, VSP_021040; Note=No experimental confirmation available.; 


uniprotID: A1Z1Q3
geneSymbol: MACROD2
pdb: 4IQY;
length: 425
go: ENSG00000172264;
snps: rs2990505 rs41275442
name:
O-acetyl-ADP-ribose deacetylase MACROD2 (EC 3.2.2.-) (EC 3.5.1.-) (MACRO domain-containing protein 2) ([Protein ADP-ribosylglutamate] hydrolase)

sequence:

opentargets:
centrosome [GO:0005813]; nucleolus [GO:0005730]; nucleus [GO:0005634]; deacetylase activity [GO:0019213]; hydrolase activity, acting on glycosyl bonds [GO:0016798]; brain development [GO:0007420]; cellular response to DNA damage stimulus [GO:0006974]; protein de-ADP-ribosylation [GO:0051725]; purine nucleoside metabolic process [GO:0042278]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; IsoId=A1Z1Q3-2; Sequence=Displayed; Name=1; IsoId=A1Z1Q3-1; Sequence=VSP_059643; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=A1Z1Q3-4; Sequence=VSP_059642, VSP_059643; Name=5; IsoId=A1Z1Q3-5; Sequence=VSP_059642; Note=No experimental confirmation available. {ECO:0000305}; Name=6; IsoId=A1Z1Q3-6; Sequence=VSP_059641, VSP_059644; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus. Note=Recruited to DNA lesions, probably via mono-APD-ribosylated proteins.


uniprotID: P43358
geneSymbol: MAGEA4
pdb: 1I4F;2WA0;
length: 317
go: ENSG00000147381;
snps: rs1224431639 rs1047251 rs773875619
name:
Melanoma-associated antigen 4 (Cancer/testis antigen 1.4) (CT1.4) (MAGE-4 antigen) (MAGE-41 antigen) (MAGE-X2 antigen)

sequence:


uniprotID: Q9BW11
geneSymbol: MXD3
length: 206
go: ENSG00000213347;
snps: rs35691394
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Max dimerization protein 3 (Max dimerizer 3) (Class C basic helix-loop-helix protein 13) (bHLHc13) (Max-associated protein 3) (Max-interacting transcriptional repressor MAD3) (Myx)

sequence:

opentargets:
RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BW11-1; Sequence=Displayed; Name=2; IsoId=Q9BW11-2; Sequence=VSP_021109; Note=No experimental confirmation available.; Name=3; IsoId=Q9BW11-3; Sequence=VSP_021110; Note=No experimental confirmation available.; Name=4; IsoId=Q9BW11-4; Sequence=VSP_057220; Note=No experimental confirmation available.; 


uniprotID: P43363
geneSymbol: MAGEA10
name: Melanoma-associated antigen 10 (Cancer/testis antigen 1.10) (CT1.10) (MAGE-10 antigen)
length: 369
go: ENSG00000124260;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs210585 rs210586
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21710496}.
sequence:


uniprotID: Q9H6Y5
geneSymbol: MAGIX
pdb: 2DJT;
name: PDZ domain-containing protein MAGIX
length: 334
go: ENSG00000269313;
snps: rs5906744 rs5906744 rs5905720 rs4824462
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H6Y5-1; Sequence=Displayed; Name=2; IsoId=Q9H6Y5-2; Sequence=VSP_029319; Note=No experimental confirmation available.; Name=3; IsoId=Q9H6Y5-3; Sequence=VSP_029319, VSP_029320; 


uniprotID: P57077
geneSymbol: MAP3K7CL
name: MAP3K7 C-terminal-like protein (TAK1-like protein)
length: 242
go: ENSG00000156265;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]
snps: rs3746843
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=A; IsoId=P57077-1; Sequence=Displayed; Name=B; IsoId=P57077-2; Sequence=VSP_004142, VSP_004143; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=C; IsoId=P57077-3; Sequence=VSP_004144, VSP_004145; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=D; IsoId=P57077-4; Sequence=VSP_004140, VSP_004141; 


uniprotID: Q96LZ2
geneSymbol: MAGEB10
name: Melanoma-associated antigen B10 (MAGE-B10 antigen)
length: 347
snps: rs1368769 rs12557898
sequence:


uniprotID: P43355
geneSymbol: MAGEA1
pdb: 1W72;3BO8;
name: Melanoma-associated antigen 1 (Antigen MZ2-E) (Cancer/testis antigen 1.1) (CT1.1) (MAGE-1 antigen)
length: 309
go: ENSG00000198681;
snps: rs2008160 rs2233044 rs2008144
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; histone deacetylase binding [GO:0042826]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription by RNA polymerase II [GO:0000122]


uniprotID: Q8WWC4
geneSymbol: MAIP1
reactome: R-HSA-8949664;
name: m-AAA protease-interacting protein 1, mitochondrial (Matrix AAA peptidase-interacting protein 1)
length: 291
go: ENSG00000162972;
snps: rs2118548
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:27642048}.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; ribosome binding [GO:0043022]; calcium import into the mitochondrion [GO:0036444]; inner mitochondrial membrane organization [GO:0007007]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; protein insertion into mitochondrial inner membrane from matrix side [GO:0032979]; protein insertion into mitochondrial membrane [GO:0051204]


uniprotID: Q5TCQ9
geneSymbol: MAGI3
pdb: 3SOE;
length: 1481
go: ENSG00000081026;
name:
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 (Membrane-associated guanylate kinase inverted 3) (MAGI-3)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; guanylate kinase activity [GO:0004385]; protein-containing complex scaffold activity [GO:0032947]; apoptotic process [GO:0006915]; intracellular signal transduction [GO:0035556]; regulation of JNK cascade [GO:0046328]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5TCQ9-4; Sequence=Displayed; Note=No experimental confirmation available.; Name=4; IsoId=Q5TCQ9-1; Sequence=VSP_059502; Note=No experimental confirmation available.; Name=2; IsoId=Q5TCQ9-2; Sequence=VSP_059502, VSP_059503, VSP_059504; Name=3; IsoId=Q5TCQ9-3; Sequence=VSP_059503, VSP_059504; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cell junction, tight junction. Nucleus {ECO:0000250}. Note=Concentrates in specific sites at the plasma membrane and in the nucleus. In epithelial cells, it localizes at tight junctions (By similarity). {ECO:0000250}.


uniprotID: Q92585
geneSymbol: MAML1
pdb: 2F8X;3NBN;3V79;
name: Mastermind-like protein 1 (Mam-1)
length: 1016
go: ENSG00000161021;
snps: rs41285557 rs6895902
reactome:
R-HSA-1912408;R-HSA-210744;R-HSA-2122947;R-HSA-2197563;R-HSA-2644606;R-HSA-2894862;R-HSA-350054;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; MAML1-RBP-Jkappa- ICN1 complex [GO:0002193]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peptide antigen binding [GO:0042605]; protein kinase binding [GO:0019901]; transcription coactivator activity [GO:0003713]; atrioventricular node cell development [GO:0060928]; atrioventricular node development [GO:0003162]; myoblast differentiation [GO:0045445]; Notch signaling pathway [GO:0007219]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of Notch receptor target [GO:0007221]; protein phosphorylation [GO:0006468]; transcription initiation from RNA polymerase II promoter [GO:0006367]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:11101851}. Note=Nuclear, in a punctate manner.


uniprotID: Q8IZL2
geneSymbol: MAML2
name: Mastermind-like protein 2 (Mam-2)
length: 1156
go: ENSG00000184384;
snps: rs7123133
reactome:
R-HSA-1912408;R-HSA-210744;R-HSA-2122947;R-HSA-2197563;R-HSA-2644606;R-HSA-2894862;R-HSA-350054;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

sequence:

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

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


uniprotID: Q5VSG8
geneSymbol: MANEAL
name: Glycoprotein endo-alpha-1,2-mannosidase-like protein (EC 3.2.1.-)
length: 457
go: ENSG00000185090;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-mannosidase activity [GO:0004559]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VSG8-1; Sequence=Displayed; Name=2; IsoId=Q5VSG8-2; Sequence=VSP_024116, VSP_024117; Name=3; IsoId=Q5VSG8-3; Sequence=VSP_024118, VSP_024119; 


uniprotID: P55145
geneSymbol: MANF
reactome: R-HSA-114608;
pdb: 2KVD;2KVE;2W51;
name: Mesencephalic astrocyte-derived neurotrophic factor (Arginine-rich protein) (Protein ARMET)
length: 182
sequence:
MRRMWATQGLAVALALSVLPGSRALRPGDCEVCISYLGRFYQDLKDRDVTFSPATIENELIKFCREARGKENRLCYYIGATDDAATKIINEVSKPLAHHIPVEKICEKLKKKDSQICELKYDKQIDLSTVDLKKLRVKELKKILDDWGETCKGCAEKSDYIRKINELMPKYAPKAASARTDL

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; sarcoplasmic reticulum lumen [GO:0033018]; growth factor activity [GO:0008083]; lipid binding [GO:0008289]; RNA binding [GO:0003723]; neuron projection development [GO:0031175]; platelet degranulation [GO:0002576]; regulation of response to endoplasmic reticulum stress [GO:1905897]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12794311, ECO:0000269|PubMed:18561914, ECO:0000269|PubMed:22637475, ECO:0000269|PubMed:29497057}. Endoplasmic reticulum lumen {ECO:0000305|PubMed:29497057}. Sarcoplasmic reticulum lumen {ECO:0000269|PubMed:22637475}. Note=Retained in the endoplasmic reticulum (ER), and sarcoplasmic reticulum (SR) under normal conditions (PubMed:22637475). Up-regulated and secreted by the ER/SR in response to ER stress and hypoxia (PubMed:22637475, PubMed:29497057). {ECO:0000269|PubMed:22637475, ECO:0000269|PubMed:29497057}.


uniprotID: P48163
geneSymbol: ME1
reactome: R-HSA-1989781;R-HSA-70268;
pdb: 2AW5;3WJA;
name: NADP-dependent malic enzyme (NADP-ME) (EC 1.1.1.40) (Malic enzyme 1)
length: 572
go: ENSG00000065833;
drug: DB03461;DB00157;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8187880}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; ADP binding [GO:0043531]; electron transfer activity [GO:0009055]; malate dehydrogenase (decarboxylating) (NAD+) activity [GO:0004471]; malate dehydrogenase (decarboxylating) (NADP+) activity [GO:0004473]; malic enzyme activity [GO:0004470]; manganese ion binding [GO:0030145]; NAD binding [GO:0051287]; NADP binding [GO:0050661]; oxaloacetate decarboxylase activity [GO:0008948]; carbohydrate metabolic process [GO:0005975]; malate metabolic process [GO:0006108]; NADP biosynthetic process [GO:0006741]; protein tetramerization [GO:0051262]; pyruvate metabolic process [GO:0006090]; regulation of lipid metabolic process [GO:0019216]; regulation of NADP metabolic process [GO:1902031]; response to carbohydrate [GO:0009743]; response to hormone [GO:0009725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48163-1; Sequence=Displayed; Name=2; IsoId=P48163-2; Sequence=VSP_057051; Note=No experimental confirmation available.; 


uniprotID: Q9P2G4
geneSymbol: MAP10
name: Microtubule-associated protein 10 (Microtubule regulator of 120 KDa)
length: 905
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic microtubule [GO:0005881]; midbody [GO:0030496]; mitotic spindle midzone [GO:1990023]; mitotic spindle pole [GO:0097431]; microtubule binding [GO:0008017]; cell division [GO:0051301]; cytoplasmic microtubule organization [GO:0031122]; mitotic spindle midzone assembly [GO:0051256]; positive regulation of cytokinesis [GO:0032467]; regulation of microtubule-based process [GO:0032886]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23264731}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:23264731}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23264731}. Midbody {ECO:0000269|PubMed:23264731}. Note=Localized at stabilized microtubules (MTs) during interphase and to the mitotic apparatus during mitosis. Localized at spindle poles in metaphase and spindle midzone during telophase. Colocalized with Polo-like kinase PLK1 to the center of spindle midzone. Localized at the midbody during cytokinesis. Colocalized with acetylated-tubulin at MTs.


uniprotID: P53582
geneSymbol: METAP1
reactome: R-HSA-2514859;
name: Methionine aminopeptidase 1 (MAP 1) (MetAP 1) (EC 3.4.11.18) (Peptidase M 1)
length: 386
go: ENSG00000164024;
drug: DB07901;DB04324;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03174}.
pdb:
2B3H;2B3K;2B3L;2G6P;2GZ5;2NQ6;2NQ7;4FLI;4FLJ;4FLK;4FLL;4HXX;4IKR;4IKS;4IKT;4IKU;4IU6;4U1B;4U69;4U6C;4U6E;4U6J;4U6W;4U6Z;4U70;4U71;4U73;4U75;4U76;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; aminopeptidase activity [GO:0004177]; metal ion binding [GO:0046872]; metalloaminopeptidase activity [GO:0070006]; metalloexopeptidase activity [GO:0008235]; N-terminal protein amino acid modification [GO:0031365]; peptidyl-methionine modification [GO:0018206]; platelet aggregation [GO:0070527]; protein initiator methionine removal [GO:0070084]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; regulation of translation [GO:0006417]


uniprotID: P78559
geneSymbol: MAP1A
length: 2803
go: ENSG00000166963;
drug: DB01196;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
name:
Microtubule-associated protein 1A (MAP-1A) (Proliferation-related protein p80) [Cleaved into: MAP1A heavy chain; MAP1 light chain LC2]

sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; axon initial segment [GO:0043194]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic branch [GO:0044307]; dendritic microtubule [GO:1901588]; dendritic shaft [GO:0043198]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; primary dendrite [GO:0150001]; synapse [GO:0045202]; actin binding [GO:0003779]; cytoskeletal adaptor activity [GO:0008093]; microtubule binding [GO:0008017]; structural molecule activity [GO:0005198]; tubulin binding [GO:0015631]; anterograde axonal protein transport [GO:0099641]; associative learning [GO:0008306]; axonogenesis [GO:0007409]; dendrite development [GO:0016358]; memory [GO:0007613]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein localization to microtubule [GO:1902817]; neuron cellular homeostasis [GO:0070050]; neuron projection maintenance [GO:1990535]; positive regulation of cellular protein localization [GO:1903829]; positive regulation of protein localization to cell surface [GO:2000010]; regulation of synaptic plasticity [GO:0048167]; retrograde axonal protein transport [GO:0099642]; voluntary musculoskeletal movement [GO:0050882]

snps:
rs2584695 rs1060935 rs1060936 rs1060937 rs1060938 rs2602129 rs2584715 rs3803337 rs8034794 rs8036179 rs3803335 rs12912505 rs2245715 rs2584717 rs2584697 rs1060943 rs1060946 rs2229014 rs1060950 rs2584718 rs2584719 rs1060953 rs1060955 rs8026745 rs8027254 rs8028849 rs8027916 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78559-1; Sequence=Displayed; Name=2; IsoId=P78559-2; Sequence=VSP_040240; 


uniprotID: P46821
geneSymbol: MAP1B
name: Microtubule-associated protein 1B (MAP-1B) [Cleaved into: MAP1B heavy chain; MAP1 light chain LC1]
length: 2468
go: ENSG00000131711;
snps: rs766004582 rs369022142 rs1866374 rs16876070 rs34093016 rs13153166
sequence:

opentargets:
apical dendrite [GO:0097440]; axon [GO:0030424]; basal dendrite [GO:0097441]; cell junction [GO:0030054]; cell projection [GO:0042995]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; hippocampal mossy fiber [GO:0097457]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; neuronal cell body [GO:0043025]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; somatodendritic compartment [GO:0036477]; synapse [GO:0045202]; actin binding [GO:0003779]; microtubule binding [GO:0008017]; structural molecule activity [GO:0005198]; tubulin binding [GO:0015631]; axon extension [GO:0048675]; axonogenesis [GO:0007409]; cellular process [GO:0009987]; dendrite development [GO:0016358]; establishment of monopolar cell polarity [GO:0061162]; microtubule bundle formation [GO:0001578]; microtubule cytoskeleton organization [GO:0000226]; mitochondrion transport along microtubule [GO:0047497]; negative regulation of intracellular transport [GO:0032387]; neuron migration [GO:0001764]; positive regulation of axon extension [GO:0045773]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18195017}. Cytoplasm {ECO:0000269|PubMed:18195017}. Cell junction, synapse {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with DAPK1 in the microtubules and cortical actin fibers. {ECO:0000250}.


uniprotID: Q66K74
geneSymbol: MAP1S
length: 1059
go: ENSG00000130479;
snps: rs17710707 rs17710707 rs7252905
name:
Microtubule-associated protein 1S (MAP-1S) (BPY2-interacting protein 1) (Microtubule-associated protein 8) (Variable charge Y chromosome 2-interacting protein 1) (VCY2-interacting protein 1) (VCY2IP-1) [Cleaved into: MAP1S heavy chain; MAP1S light chain]

sequence:

opentargets:
cell junction [GO:0030054]; cell projection [GO:0042995]; cytosol [GO:0005829]; dendrite [GO:0030425]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; spindle [GO:0005819]; synapse [GO:0045202]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; beta-tubulin binding [GO:0048487]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; tubulin binding [GO:0015631]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; axonogenesis [GO:0007409]; brain development [GO:0007420]; dendrite development [GO:0016358]; DNA metabolic process [GO:0006259]; microtubule bundle formation [GO:0001578]; microtubule cytoskeleton organization [GO:0000226]; mitochondrion transport along microtubule [GO:0047497]; nervous system development [GO:0007399]; neuron projection morphogenesis [GO:0048812]; regulation of chromatin disassembly [GO:0010848]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q66K74-1; Sequence=Displayed; Name=2; IsoId=Q66K74-2; Sequence=VSP_056043; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Note=Detected in filopodia-like protrusions and synapses (By similarity). Detected in perinuclear punctate network corresponding to mitochondrial aggregates and in the nucleus in cells exhibiting apoptosis. Associated specifically with microtubules stabilized by paclitaxel and colocalizes with RASSF1 isoform A. In interphase cells, shows a diffuse cytoplasmic staining with partial localization to the microtubules. During the different stages of mitosis detected at the spindle microtubules. {ECO:0000250}.


uniprotID: P27816
geneSymbol: MAP4
name: Microtubule-associated protein 4 (MAP-4)
length: 1152
go: ENSG00000047849;
drug: DB01248;DB01229;
snps: rs11711953 rs13097415 rs13096947 rs13076542 rs1060407 rs2230169 rs1137524 rs35736893
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
axon [GO:0030424]; axoneme [GO:0005930]; cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; microtubule cytoskeleton [GO:0015630]; mitotic spindle [GO:0072686]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; microtubule binding [GO:0008017]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; cell division [GO:0051301]; establishment of spindle orientation [GO:0051294]; microtubule cytoskeleton organization [GO:0000226]; microtubule sliding [GO:0051012]; mitotic spindle organization [GO:0007052]; negative regulation of non-motile cilium assembly [GO:1902856]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P27816-1; Sequence=Displayed; Name=2; IsoId=P27816-2; Sequence=VSP_003200; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P27816-3; Sequence=VSP_032065, VSP_032068, VSP_032072, VSP_032073, VSP_032074, VSP_032075; Name=4; IsoId=P27816-4; Sequence=VSP_032066, VSP_032067, VSP_032069, VSP_032070, VSP_032076; Name=5; IsoId=P27816-5; Sequence=VSP_032071, VSP_032077, VSP_032079; Name=6; IsoId=P27816-6; Sequence=VSP_032078; Note=No experimental confirmation available.; Name=7; IsoId=P27816-7; Sequence=VSP_043240, VSP_043241; Note=No experimental confirmation available.; 


uniprotID: Q96JE9
geneSymbol: MAP6
name: Microtubule-associated protein 6 (MAP-6) (Stable tubule-only polypeptide) (STOP)
length: 813
go: ENSG00000171533;
snps: rs12225010
sequence:

opentargets:
axon [GO:0030424]; cis-Golgi network [GO:0005801]; dendrite [GO:0030425]; Golgi-associated vesicle [GO:0005798]; microtubule [GO:0005874]; perinuclear region of cytoplasm [GO:0048471]; transport vesicle membrane [GO:0030658]; calmodulin binding [GO:0005516]; microtubule binding [GO:0008017]; cytoskeleton-dependent intracellular transport [GO:0030705]; dendrite morphogenesis [GO:0048813]; lysosome localization [GO:0032418]; microtubule cytoskeleton organization [GO:0000226]; positive regulation of axonogenesis [GO:0050772]; regulation of microtubule cytoskeleton organization [GO:0070507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=N-STOP, Neuronal-STOP; IsoId=Q96JE9-1; Sequence=Displayed; Name=2; Synonyms=E-STOP, Early-STOP; IsoId=Q96JE9-2; Sequence=VSP_034723; Name=3; IsoId=Q96JE9-3; Sequence=VSP_054151; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:14692697}. Golgi apparatus {ECO:0000250|UniProtKB:Q63560}. Cell projection, axon {ECO:0000250|UniProtKB:Q63560}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63560}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q63560}; Lipid-anchor {ECO:0000250|UniProtKB:Q63560}; Cytoplasmic side {ECO:0000250|UniProtKB:Q63560}. Note=Localizes predominantly in the proximal part of the axon (By similarity). Preferentially is concentrated on a portion of the microtubule polymer in which tubulin is modified by detyrosination and acetylation and is also resistant to depolymerization induced by both nocodazole and cold (By similarity). In unpolarized neurons, localizes to the Golgi and to secretory vesicles accumulating transiently at the tips of a subset of neurites (By similarity). Following neuronal polarization and during axon outgrowth, accumulates in the axonal growth cone and subsequently localizes throughout the axon (By similarity). Partially localizes to dendrites in mature neurons (By similarity). Colocalizes with neurofilament (NF)-rich inclusions in spinal chord and brain neurons of patients with amyotrophic lateral sclerosis (ALS) (PubMed:14692697). {ECO:0000250|UniProtKB:Q63560, ECO:0000269|PubMed:14692697}.


uniprotID: Q9UPY8
geneSymbol: MAPRE3
pdb: 1WYO;3CO1;3JAK;3JAL;3JAR;3TQ7;
length: 281
go: ENSG00000084764;
name:
Microtubule-associated protein RP/EB family member 3 (EB1 protein family member 3) (EBF3) (End-binding protein 3) (EB3) (RP3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; microtubule plus-end [GO:0035371]; midbody [GO:0030496]; perinuclear region of cytoplasm [GO:0048471]; spindle midzone [GO:0051233]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of microtubule plus-end binding [GO:1903033]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization [GO:0008104]; protein localization to microtubule [GO:0035372]; protein localization to microtubule plus-end [GO:1904825]; regulation of microtubule polymerization or depolymerization [GO:0031110]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=EBF3-L; IsoId=Q9UPY8-1; Sequence=Displayed; Name=2; Synonyms=EBF3-S; IsoId=Q9UPY8-2; Sequence=VSP_012947; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10644998, ECO:0000269|PubMed:19255245, ECO:0000269|PubMed:28814570}. Note=Associated with the microtubule network. Detected at the plus end of microtubules. {ECO:0000269|PubMed:10644998, ECO:0000269|PubMed:19255245, ECO:0000269|PubMed:28814570}.


uniprotID: Q49MG5
geneSymbol: MAP9
name: Microtubule-associated protein 9 (Aster-associated protein)
length: 647
go: ENSG00000164114;
snps: rs34082815 rs3733391 rs1058992 rs2305050
sequence:

opentargets:
astral microtubule [GO:0000235]; axon [GO:0030424]; cytoplasm [GO:0005737]; mitotic spindle [GO:0072686]; mitotic spindle midzone [GO:1990023]; spindle midzone [GO:0051233]; microtubule binding [GO:0008017]; mitotic cytokinesis [GO:0000281]; mitotic spindle assembly [GO:0090307]; regulation of mitotic centrosome separation [GO:0046602]; regulation of mitotic cytokinesis [GO:1902412]; regulation of mitotic spindle organization [GO:0060236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q49MG5-1; Sequence=Displayed; Name=2; IsoId=Q49MG5-2; Sequence=VSP_020037, VSP_020038; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16049101}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16049101}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16049101}. Note=Localizes to microtubules in interphase, associates with the mitotic spindle during mitosis, localizes to the central body during cytokinesis.


uniprotID: Q9UEW3
geneSymbol: MARCO
reactome: R-HSA-3000480;
length: 520
go: ENSG00000019169;
snps: rs6761637
name:
Macrophage receptor MARCO (Macrophage receptor with collagenous structure) (Scavenger receptor class A member 2)

sequence:

opentargets:
collagen trimer [GO:0005581]; endocytic vesicle membrane [GO:0030666]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; G protein-coupled receptor binding [GO:0001664]; scavenger receptor activity [GO:0005044]; signaling pattern recognition receptor activity [GO:0008329]; transmembrane signaling receptor activity [GO:0004888]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; amyloid-beta clearance [GO:0097242]; apoptotic cell clearance [GO:0043277]; cell surface receptor signaling pathway [GO:0007166]; endocytosis [GO:0006897]; innate immune response [GO:0045087]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein phosphorylation [GO:0001934]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UEW3-1; Sequence=Displayed; Name=2; IsoId=Q9UEW3-2; Sequence=VSP_056698; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9468508}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q9NS73
geneSymbol: MBIP
reactome: R-HSA-3214847;
length: 344
go: ENSG00000151332;
snps: rs2899849 rs3168891
name:
MAP3K12-binding inhibitory protein 1 (MAPK upstream kinase-binding inhibitory protein) (MUK-binding inhibitory protein)

sequence:

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; molybdopterin synthase activity [GO:0030366]; protein kinase inhibitor activity [GO:0004860]; histone H3 acetylation [GO:0043966]; inactivation of MAPK activity involved in osmosensory signaling pathway [GO:0000173]; molybdopterin cofactor biosynthetic process [GO:0032324]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NS73-1; Sequence=Displayed; Name=2; IsoId=Q9NS73-2; Sequence=VSP_010266; Note=No experimental confirmation available.; Name=3; IsoId=Q9NS73-3; Sequence=VSP_010265; Name=4; IsoId=Q9NS73-5; Sequence=VSP_040134; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shows a cytoplasmic localization when coexpressed with MAP3K12.


uniprotID: A4D2B0
geneSymbol: MBLAC1
pdb: 4V0H;
name: Metallo-beta-lactamase domain-containing protein 1 (EC 3.-.-.-)
length: 266
opentargets: hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]
snps: rs17852945 rs17852946
sequence:


uniprotID: Q6P1A2
geneSymbol: LPCAT3
reactome: R-HSA-1482788;R-HSA-1482801;R-HSA-1482839;
length: 487
go: ENSG00000111684;
snps: rs34196984 rs1984564
name:
Lysophospholipid acyltransferase 5 (LPLAT 5) (EC 2.3.1.-) (1-acylglycerophosphocholine O-acyltransferase) (EC 2.3.1.23) (1-acylglycerophosphoserine O-acyltransferase) (EC 2.3.1.n6) (Lysophosphatidylcholine acyltransferase) (LPCAT) (Lyso-PC acyltransferase) (Lysophosphatidylcholine acyltransferase 3) (Lyso-PC acyltransferase 3) (Lysophosphatidylserine acyltransferase) (LPSAT) (Lyso-PS acyltransferase) (Membrane-bound O-acyltransferase domain-containing protein 5) (O-acyltransferase domain-containing protein 5)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 1-acylglycerophosphocholine O-acyltransferase activity [GO:0047184]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid biosynthetic process [GO:0008654]; regulation of plasma lipoprotein particle levels [GO:0097006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1A2-1; Sequence=Displayed; Name=2; IsoId=Q6P1A2-2; Sequence=VSP_053680; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18195019}; Multi-pass membrane protein {ECO:0000269|PubMed:18195019}.


uniprotID: Q96EY5
geneSymbol: MVB12A
reactome: R-HSA-162588;R-HSA-174490;R-HSA-917729;
length: 273
go: ENSG00000141971;
snps: rs34949802
name:
Multivesicular body subunit 12A (CIN85/CD2AP family-binding protein) (ESCRT-I complex subunit MVB12A) (Protein FAM125A)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; ESCRT I complex [GO:0000813]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; late endosome membrane [GO:0031902]; nucleoplasm [GO:0005654]; vesicle [GO:0031982]; lipid binding [GO:0008289]; SH3 domain binding [GO:0017124]; ubiquitin binding [GO:0043130]; endosomal transport [GO:0016197]; macroautophagy [GO:0016236]; multivesicular body assembly [GO:0036258]; positive regulation of viral process [GO:0048524]; protein transport [GO:0015031]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; regulation of viral budding via host ESCRT complex [GO:1903772]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]; viral budding via host ESCRT complex [GO:0039702]; viral life cycle [GO:0019058]; virus maturation [GO:0019075]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EY5-1; Sequence=Displayed; Name=2; Synonyms=Delta 5; IsoId=Q96EY5-2; Sequence=VSP_020629; Note=Does not interact with CD2AP.; Name=3; Synonyms=Delta 8; IsoId=Q96EY5-3; Sequence=VSP_020630; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Colocalizes with F-actin. Some fraction may be nuclear.


uniprotID: Q13394
geneSymbol: MAB21L1
pdb: 5EOG;5EOM;
name: Putative nucleotidyltransferase MAB21L1 (EC 2.7.7.-) (Protein mab-21-like 1)
length: 359
go: ENSG00000180660;
snps: rs1065316
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O70299}.
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; nucleotidyltransferase activity [GO:0016779]; anatomical structure morphogenesis [GO:0009653]; camera-type eye development [GO:0043010]; positive regulation of cell proliferation [GO:0008284]


uniprotID: Q9HCC0
geneSymbol: MCCC2
reactome: R-HSA-196780;R-HSA-3371599;R-HSA-70895;
length: 563
go: ENSG00000131844;
drug: DB00121;
name:
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCase subunit beta) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 2) (3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta)

sequence:

opentargets:
3-methylcrotonyl-CoA carboxylase complex, mitochondrial [GO:0002169]; cytosol [GO:0005829]; methylcrotonoyl-CoA carboxylase complex [GO:1905202]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; methylcrotonoyl-CoA carboxylase activity [GO:0004485]; biotin metabolic process [GO:0006768]; coenzyme A metabolic process [GO:0015936]; leucine catabolic process [GO:0006552]; protein heterooligomerization [GO:0051291]

snps:
rs398124371 rs1187203558 rs119103219 rs748028684 rs119103220 rs141030969 rs119103222 rs752866557 rs119103225 rs773774134 rs547662164 rs535519604 rs140806722 rs277995 rs886043524 rs760420191 rs1254750166 rs766753795 rs119103223 rs119103226 rs119103221 rs773115035 rs1443551700 rs150591260 rs398124370 rs765438239 rs757052602 rs1450515408 rs771440617 rs758506791 rs119103224 rs139852818 rs727504011 rs754741111 rs148773718 rs769558016 rs35068278 rs979584886 rs150327768 rs774241918 rs1257849672 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCC0-1; Sequence=Displayed; Name=2; IsoId=Q9HCC0-2; Sequence=VSP_000069; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:16023992}.


uniprotID: Q5U623
geneSymbol: ATF7IP2
length: 682
go: ENSG00000166669;
opentargets: nucleus [GO:0005634]
snps: rs34834862 rs9932051 rs9931441
location: SUBCELLULAR LOCATION: Nucleus.
name:
Activating transcription factor 7-interacting protein 2 (ATF7-interacting protein 2) (MBD1-containing chromatin-associated factor 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5U623-1; Sequence=Displayed; Name=2; IsoId=Q5U623-2; Sequence=VSP_024042, VSP_024043; Note=No experimental confirmation available.; 


uniprotID: Q8IX19
geneSymbol: MCEMP1
reactome: R-HSA-6798695;
name: Mast cell-expressed membrane protein 1
length: 187
go: ENSG00000183019;
snps: rs8111596 rs72996468 rs10409343
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
sequence:
MEVEEIYKHQEVKMQAPAFRDKKQGVSAKNQGAHDPDYENITLAFKNQDHAKGGHSRPTSQVPAQCRPPSDSTQVPCWLYRAILSLYILLALAFVLCIILSAFIMVKNAEMSKELLGFKRELWNVSNSVQACEERQKRGWDSVQQSITMVRSKIDRLETTLAGIKNIDTKVQKILEVLQKMPQSSPQ

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; neutrophil degranulation [GO:0043312]


uniprotID: O60942
geneSymbol: RNGTT
reactome: R-HSA-167160;R-HSA-72086;R-HSA-77075;
pdb: 2C46;3S24;
length: 597
go: ENSG00000111880;
drug: DB02325;
snps: rs17856595
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
mRNA-capping enzyme (HCAP1) (HCE) [Includes: Polynucleotide 5'-triphosphatase (EC 3.1.3.33) (mRNA 5'-triphosphatase) (TPase); mRNA guanylyltransferase (EC 2.7.7.50) (GTP--RNA guanylyltransferase) (GTase)]

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; GTP binding [GO:0005525]; mRNA guanylyltransferase activity [GO:0004484]; polynucleotide 5'-phosphatase activity [GO:0004651]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; RNA guanylyltransferase activity [GO:0008192]; triphosphatase activity [GO:0050355]; 7-methylguanosine mRNA capping [GO:0006370]; RNA processing [GO:0006396]; transcription by RNA polymerase II [GO:0006366]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=HCE1, HCAP1A; IsoId=O60942-1; Sequence=Displayed; Name=2; Synonyms=HCE1A; IsoId=O60942-2; Sequence=VSP_003202; Name=3; Synonyms=HCE1B; IsoId=O60942-3; Sequence=VSP_003202, VSP_003203; Name=4; Synonyms=HCAP1B; IsoId=O60942-4; Sequence=VSP_003204; 


uniprotID: Q8NI22
geneSymbol: MCFD2
reactome: R-HSA-204005;R-HSA-5694530;R-HSA-948021;
pdb: 2VRG;3A4U;3LCP;3WHT;3WHU;3WNX;4YGB;4YGC;4YGD;4YGE;
length: 146
go: ENSG00000180398;
drug: DB00025;
snps: rs78289603 rs137852913 rs748641905 rs137852914
name:
Multiple coagulation factor deficiency protein 2 (Neural stem cell-derived neuronal survival protein)

sequence:
MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQ

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; calcium ion binding [GO:0005509]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NI22-1; Sequence=Displayed; Name=2; IsoId=Q8NI22-2; Sequence=VSP_043815; Name=3; IsoId=Q8NI22-3; Sequence=VSP_043814; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:12717434}. Endoplasmic reticulum {ECO:0000269|PubMed:12717434}. Golgi apparatus {ECO:0000269|PubMed:12717434}.


uniprotID: Q7L590
geneSymbol: MCM10
reactome: R-HSA-176187;R-HSA-68962;
name: Protein MCM10 homolog (HsMCM10)
length: 875
go: ENSG00000065328;
snps: rs17152897 rs34630110 rs35114749 rs7905784 rs2274110
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; replication fork protection complex [GO:0031298]; DNA replication origin binding [GO:0003688]; double-stranded DNA binding [GO:0003690]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; single-stranded DNA binding [GO:0003697]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; G1/S transition of mitotic cell cycle [GO:0000082]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L590-1; Sequence=Displayed; Name=2; IsoId=Q7L590-2; Sequence=VSP_029951; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11095689, ECO:0000269|PubMed:15136575}. Note=Colocalizes with ORC2 in nuclei foci. Associated with chromatin in S phase. From early to mid-S phase located in discrete nuclear foci. In early S phase, several hundred foci appeared throughout the nucleus. In mid-S phase, the foci appeared at the nuclear periphery and nucleolar regions. In the late S and G phases localized to nucleoli.


uniprotID: Q9GZU1
geneSymbol: MCOLN1
reactome: R-HSA-3295583;R-HSA-917977;
pdb: 5TJA;5TJB;5TJC;5WJ5;5WJ9;
name: Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
length: 580
go: ENSG00000090674;
snps: rs797044825 rs767122713 rs121908372 rs121908374 rs754097561 rs797044827 rs797044828
sequence:

opentargets:
cell projection [GO:0042995]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; phagocytic cup [GO:0001891]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; calcium channel activity [GO:0005262]; cation channel activity [GO:0005261]; intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity [GO:0097682]; iron ion transmembrane transporter activity [GO:0005381]; ligand-gated calcium channel activity [GO:0099604]; lipid binding [GO:0008289]; NAADP-sensitive calcium-release channel activity [GO:0072345]; adaptive immune response [GO:0002250]; autophagosome maturation [GO:0097352]; calcium ion transmembrane transport [GO:0070588]; cation transport [GO:0006812]; cellular response to calcium ion [GO:0071277]; cellular response to pH [GO:0071467]; protein homotetramerization [GO:0051289]; transferrin transport [GO:0033572]

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:15178326, ECO:0000269|PubMed:21224396}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Lysosome membrane {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:21224396, ECO:0000305|PubMed:16497227, ECO:0000305|PubMed:16978393}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12459486}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q99J21}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q99J21}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Cell membrane {ECO:0000305|PubMed:29019983}; Multi-pass membrane protein {ECO:0000269|PubMed:29019983}. Note=Delivery from the trans-Golgi to lysosomes seems to occur mainly in a direct intracellular manner without intermediate delivery to the plasma membrane (PubMed:16497227). Under normal conditions, restricted to intracellular compartments so that only a very minor proportion is present at the cell membrane (PubMed:12459486, PubMed:18794901, PubMed:28112729, PubMed:29019983). {ECO:0000269|PubMed:12459486, ECO:0000269|PubMed:18794901, ECO:0000269|PubMed:28112729, ECO:0000269|PubMed:29019983, ECO:0000305|PubMed:16497227}.


uniprotID: P33993
geneSymbol: MCM7
reactome: R-HSA-176187;R-HSA-176974;R-HSA-68867;R-HSA-68949;R-HSA-68962;R-HSA-69052;
name: DNA replication licensing factor MCM7 (EC 3.6.4.12) (CDC47 homolog) (P1.1-MCM3)
length: 719
go: ENSG00000166508;
snps: rs2307348 rs2070215 rs2307347
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; MCM complex [GO:0042555]; membrane [GO:0016020]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA helicase activity [GO:0003678]; single-stranded DNA binding [GO:0003697]; cell proliferation [GO:0008283]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to xenobiotic stimulus [GO:0071466]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; DNA unwinding involved in DNA replication [GO:0006268]; G1/S transition of mitotic cell cycle [GO:0000082]; regulation of phosphorylation [GO:0042325]; response to drug [GO:0042493]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P33993-1; Sequence=Displayed; Name=2; IsoId=P33993-2; Sequence=VSP_003205; Note=No experimental confirmation available.; Name=3; IsoId=P33993-3; Sequence=VSP_044310; 


uniprotID: Q9UJA3
geneSymbol: MCM8
reactome: R-HSA-113507;R-HSA-176187;R-HSA-176974;R-HSA-68689;R-HSA-68827;R-HSA-68867;R-HSA-68949;R-HSA-68962;
name: DNA helicase MCM8 (EC 3.6.4.12) (Minichromosome maintenance 8)
length: 840
go: ENSG00000125885;
snps: rs236110 rs6117014 rs606231343 rs16991591 rs16991615 rs28403619 rs16991638
sequence:

opentargets:
chromosome [GO:0005694]; MCM8-MCM9 complex [GO:0097362]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; helicase activity [GO:0004386]; MutLbeta complex binding [GO:0032406]; MutSalpha complex binding [GO:0032407]; MutSbeta complex binding [GO:0032408]; cellular response to DNA damage stimulus [GO:0006974]; DNA replication [GO:0006260]; double-strand break repair via homologous recombination [GO:0000724]; female gamete generation [GO:0007292]; G1/S transition of mitotic cell cycle [GO:0000082]; male gamete generation [GO:0048232]; protein localization to chromatin [GO:0071168]; protein stabilization [GO:0050821]; recombinational interstrand cross-link repair [GO:0036298]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UJA3-1; Sequence=Displayed; Name=2; IsoId=Q9UJA3-2; Sequence=VSP_015785; Note=No experimental confirmation available.; Name=3; IsoId=Q9UJA3-3; Sequence=VSP_041308; Note=No experimental confirmation available. According to Ref.2, this isoform could be derived from an aberrant mRNA form found in placental choriocarcinoma.; Name=4; IsoId=Q9UJA3-4; Sequence=VSP_044179; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12527764, ECO:0000269|PubMed:18072282, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:26300262}. Chromosome {ECO:0000269|PubMed:15684404, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093}. Note=Localizes to nuclear foci (PubMed:26215093). Localizes to double-stranded DNA breaks (PubMed:23401855). Binds chromatin throughout the cell cycle (PubMed:15684404). {ECO:0000269|PubMed:15684404, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093}.


uniprotID: Q9NXL9
geneSymbol: MCM9
length: 1143
go: ENSG00000111877;
name:
DNA helicase MCM9 (hMCM9) (EC 3.6.4.12) (Mini-chromosome maintenance deficient domain-containing protein 1) (Minichromosome maintenance 9)

sequence:

opentargets:
chromosome [GO:0005694]; MCM8-MCM9 complex [GO:0097362]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; enzyme binding [GO:0019899]; MutLbeta complex binding [GO:0032406]; MutSalpha complex binding [GO:0032407]; MutSbeta complex binding [GO:0032408]; protein-containing complex binding [GO:0044877]; cellular response to DNA damage stimulus [GO:0006974]; DNA duplex unwinding [GO:0032508]; double-strand break repair via homologous recombination [GO:0000724]; female gamete generation [GO:0007292]; mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication [GO:0070716]; protein localization to chromatin [GO:0071168]; recombinational interstrand cross-link repair [GO:0036298]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=L; IsoId=Q9NXL9-1; Sequence=Displayed; Note=Most abundant isoform.; Name=M; IsoId=Q9NXL9-2; Sequence=VSP_047462, VSP_047463; Name=S; IsoId=Q9NXL9-3; Sequence=VSP_028013, VSP_028014; Name=4; IsoId=Q9NXL9-4; Sequence=VSP_044180, VSP_044181; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26300262}. Chromosome {ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26300262}. Note=Colocalizes to nuclear foci with RPA1 following DNA damage (PubMed:23401855). Localizes to double-stranded DNA breaks (PubMed:23401855). Recruited to chromatin by MSH2 (PubMed:26300262). {ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26300262}.


uniprotID: Q9Y6D9
geneSymbol: MAD1L1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 1GO4;4DZO;
length: 718
go: ENSG00000002822;
name:
Mitotic spindle assembly checkpoint protein MAD1 (Mitotic arrest deficient 1-like protein 1) (MAD1-like protein 1) (Mitotic checkpoint MAD1 protein homolog) (HsMAD1) (hMAD1) (Tax-binding protein 181)

sequence:

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; mitotic spindle [GO:0072686]; nuclear envelope [GO:0005635]; nuclear pore nuclear basket [GO:0044615]; spindle [GO:0005819]; spindle pole [GO:0000922]; identical protein binding [GO:0042802]; kinetochore binding [GO:0043515]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; mitotic cell cycle checkpoint [GO:0007093]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of T cell proliferation [GO:0042130]; regulation of metaphase plate congression [GO:0090235]; thymus development [GO:0048538]

snps:
rs121908982 rs550573452 rs769418574 rs193231481 rs377555260 rs371561369 rs755012008 rs1801368 rs201951163 rs1801500 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6D9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6D9-3; Sequence=VSP_056160, VSP_056161; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:22351768}. Nucleus envelope {ECO:0000269|PubMed:22351768}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:22351768}. Note=Detected at the nucleus envelope during interphase (PubMed:22351768). From the beginning to the end of mitosis, it is seen to move from a diffusely nuclear distribution to the centrosome, to the spindle midzone and finally to the midbody. Detected at kinetochores during prometaphase (PubMed:22351768). Colocalizes with NEK2 at the kinetochore (PubMed:14978040). Colocalizes with IK at spindle poles during metaphase and anaphase (PubMed:22351768). {ECO:0000269|PubMed:14978040, ECO:0000269|PubMed:22351768}.


uniprotID: Q9NWR8
geneSymbol: MCUB
reactome: R-HSA-8949215;R-HSA-8949664;
length: 336
go: ENSG00000005059;
snps: rs4698744 rs13846 rs1053680
name:
Calcium uniporter regulatory subunit MCUb, mitochondrial (MCUb) (Coiled-coil domain-containing protein 109B)

sequence:

opentargets:
calcium channel complex [GO:0034704]; integral component of mitochondrial inner membrane [GO:0031305]; intrinsic component of membrane [GO:0031224]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; uniplex complex [GO:1990246]; calcium channel inhibitor activity [GO:0019855]; calcium import into the mitochondrion [GO:0036444]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:24231807}; Multi-pass membrane protein {ECO:0000269|PubMed:24231807}.


uniprotID: Q8NFP4
geneSymbol: MDGA1
reactome: R-HSA-163125;
pdb: 5V5V;5V5W;5XEQ;
length: 955
go: ENSG00000112139;
snps: rs10947690 rs368283829
name:
MAM domain-containing glycosylphosphatidylinositol anchor protein 1 (GPI and MAM protein) (GPIM) (Glycosylphosphatidylinositol-MAM) (MAM domain-containing protein 3)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; GABA-ergic synapse [GO:0098982]; plasma membrane [GO:0005886]; brain development [GO:0007420]; neuron migration [GO:0001764]; regulation of presynapse assembly [GO:1905606]; regulation of synaptic membrane adhesion [GO:0099179]; spinal cord association neuron differentiation [GO:0021527]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFP4-1; Sequence=Displayed; Name=2; IsoId=Q8NFP4-2; Sequence=VSP_009835; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15922729}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:15922729}. Note=Associated with lipid rafts.


uniprotID: Q7Z553
geneSymbol: MDGA2
reactome: R-HSA-163125;
length: 956
go: ENSG00000139915;
snps: rs12590500
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}.
name:
MAM domain-containing glycosylphosphatidylinositol anchor protein 2 (MAM domain-containing protein 1)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; spinal cord motor neuron differentiation [GO:0021522]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z553-1; Sequence=Displayed; Name=2; IsoId=Q7Z553-2; Sequence=VSP_042468; Name=3; IsoId=Q7Z553-3; Sequence=VSP_045240; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q15528
geneSymbol: MED22
reactome: R-HSA-1989781;R-HSA-381340;
length: 200
go: ENSG00000148297;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Mediator of RNA polymerase II transcription subunit 22 (Mediator complex subunit 22) (Surfeit locus protein 5) (Surf-5)

sequence:

opentargets:
cytoplasm [GO:0005737]; mediator complex [GO:0016592]; transcription coregulator activity [GO:0003712]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Surf5B; IsoId=Q15528-1; Sequence=Displayed; Name=Surf5A; IsoId=Q15528-2; Sequence=VSP_006309; 


uniprotID: Q02080
geneSymbol: MEF2B
reactome: R-HSA-375170;
pdb: 1N6J;1TQE;6BYY;6BZ1;6C9L;
name: Myocyte-specific enhancer factor 2B (RSRFR2) (Serum response factor-like protein 2)
length: 365
go: ENSG00000064489;ENSG00000213999;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; muscle organ development [GO:0007517]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02080-1; Sequence=Displayed; Name=2; IsoId=Q02080-2; Sequence=VSP_042322; 


uniprotID: Q14814
geneSymbol: MEF2D
reactome: R-HSA-2151201;R-HSA-375170;R-HSA-400253;
name: Myocyte-specific enhancer factor 2D
length: 521
go: ENSG00000116604;
snps: rs2274315
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; 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 factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; adult heart development [GO:0007512]; apoptotic process [GO:0006915]; chondrocyte differentiation [GO:0002062]; endochondral ossification [GO:0001958]; muscle organ development [GO:0007517]; nervous system development [GO:0007399]; osteoblast differentiation [GO:0001649]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=MEF2DAB; IsoId=Q14814-1; Sequence=Displayed; Name=MEF2DA'B; IsoId=Q14814-2; Sequence=VSP_006250; Name=MEF2D0B; IsoId=Q14814-3; Sequence=VSP_006251; Name=MEF2DA0; IsoId=Q14814-4; Sequence=VSP_006252; Name=MEF2DA'0; IsoId=Q14814-5; Sequence=VSP_006250, VSP_006252; Name=MEF2D00; IsoId=Q14814-6; Sequence=VSP_006251, VSP_006252; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00251, ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:15743823}. Note=Translocated by HDAC4 to nuclear dots.


uniprotID: A6BM72
geneSymbol: MEGF11
name: Multiple epidermal growth factor-like domains protein 11 (Multiple EGF-like domains protein 11)
length: 1044
go: ENSG00000157890;
snps: rs16949528 rs333550 rs333550 rs35309197 rs3803414 rs2303374
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; homotypic cell-cell adhesion [GO:0034109]; retina layer formation [GO:0010842]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A6BM72-1; Sequence=Displayed; Name=2; IsoId=A6BM72-2; Sequence=VSP_029247, VSP_029248; Name=3; IsoId=A6BM72-3; Sequence=VSP_029249, VSP_029250; Name=4; IsoId=A6BM72-4; Sequence=VSP_029246, VSP_029251, VSP_029252; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17498693}; Single-pass type I membrane protein {ECO:0000269|PubMed:17498693}. Basolateral cell membrane {ECO:0000269|PubMed:17498693}; Single-pass type I membrane protein {ECO:0000269|PubMed:17498693}. Note=Forms an irregular, mosaic-like adhesion pattern in region of the cell that becomes firmely fixed to the substrate. Localized to protruding lamellipodia. Does not localize with MEGF10.


uniprotID: Q9H1U4
geneSymbol: MEGF9
length: 602
go: ENSG00000106780;
opentargets: basement membrane [GO:0005604]; integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Multiple epidermal growth factor-like domains protein 9 (Multiple EGF-like domains protein 9) (Epidermal growth factor-like protein 5) (EGF-like protein 5)

sequence:


uniprotID: O00470
geneSymbol: MEIS1
reactome: R-HSA-5617472;
pdb: 4XRS;5EGO;
name: Homeobox protein Meis1
length: 390
go: ENSG00000143995;
snps: rs61752693
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; angiogenesis [GO:0001525]; definitive hemopoiesis [GO:0060216]; lens morphogenesis in camera-type eye [GO:0002089]; locomotory behavior [GO:0007626]; megakaryocyte development [GO:0035855]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of neuron differentiation [GO:0045665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00470-1; Sequence=Displayed; Name=2; IsoId=O00470-2; Sequence=VSP_034957, VSP_034958; 


uniprotID: O14770
geneSymbol: MEIS2
pdb: 3K2A;4XRM;5BNG;5EG0;
name: Homeobox protein Meis2 (Meis1-related protein 1)
length: 477
go: ENSG00000134138;
sequence:

opentargets:
nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; 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 proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription coregulator activity [GO:0003712]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; eye development [GO:0001654]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of transcription by RNA polymerase II [GO:0000122]; pancreas development [GO:0031016]; positive regulation of cardiac muscle myoblast proliferation [GO:0110024]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to growth factor [GO:0070848]; response to mechanical stimulus [GO:0009612]; transcription by RNA polymerase II [GO:0006366]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=Meis2C; IsoId=O14770-1; Sequence=Displayed; Name=2; Synonyms=Meis2A; IsoId=O14770-2; Sequence=VSP_002245, VSP_002246; Name=3; Synonyms=Meis2B; IsoId=O14770-3; Sequence=VSP_002242, VSP_002245, VSP_002246; Name=4; Synonyms=Meis2D; IsoId=O14770-4; Sequence=VSP_002242; Name=5; Synonyms=Meis2E; IsoId=O14770-5; Sequence=VSP_002243, VSP_002244; Name=6; IsoId=O14770-6; Sequence=VSP_043219, VSP_002242, VSP_002245, VSP_002246; Name=7; IsoId=O14770-7; Sequence=VSP_043494, VSP_002242, VSP_002245, VSP_002246; Note=No experimental confirmation available.; Name=8; IsoId=O14770-8; Sequence=VSP_043494, VSP_002245, VSP_002246; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P97367}.


uniprotID: Q99687
geneSymbol: MEIS3
name: Homeobox protein Meis3 (Meis1-related protein 2)
length: 375
go: ENSG00000105419;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P97368}.
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]; negative regulation of apoptotic signaling pathway [GO:2001234]; positive regulation of protein kinase B signaling [GO:0051897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99687-1; Sequence=Displayed; Name=2; IsoId=Q99687-2; Sequence=VSP_012893; Name=3; IsoId=Q99687-3; Sequence=VSP_012892; 


uniprotID: Q9Y316
geneSymbol: MEMO1
reactome: R-HSA-6785631;
pdb: 3BCZ;3BD0;
length: 297
go: ENSG00000162959;
name:
Protein MEMO1 (C21orf19-like protein) (Hepatitis C virus NS5A-transactivated protein 7) (HCV NS5A-transactivated protein 7) (Mediator of ErbB2-driven cell motility 1) (Mediator of cell motility 1) (Memo-1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; regulation of cell motility [GO:2000145]; regulation of microtubule-based process [GO:0032886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y316-1; Sequence=Displayed; Name=2; IsoId=Q9Y316-2; Sequence=VSP_041092; Name=3; IsoId=Q9Y316-3; Sequence=VSP_047693; 


uniprotID: Q5VYS4
geneSymbol: MEDAG
length: 303
go: ENSG00000102802;
opentargets: cytoplasm [GO:0005737]; positive regulation of fat cell differentiation [GO:0045600]
snps: rs9531945
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22510272}.
name:
Mesenteric estrogen-dependent adipogenesis protein (Activated in W/Wv mouse stomach 3 homolog) (hAWMS3) (Mesenteric estrogen-dependent adipose 4) (MEDA-4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VYS4-1; Sequence=Displayed; Name=2; IsoId=Q5VYS4-2; Sequence=VSP_022714, VSP_022715; 


uniprotID: Q02078
geneSymbol: MEF2A
reactome: R-HSA-198753;R-HSA-375170;
pdb: 1C7U;1EGW;1LEW;3KOV;3MU6;3P57;6BYY;6BZ1;
name: Myocyte-specific enhancer factor 2A (Serum response factor-like protein 1)
length: 507
go: ENSG00000068305;
snps: rs121918530 rs121918529
sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; activating transcription factor binding [GO:0033613]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; 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]; RNA polymerase II transcription factor binding [GO:0001085]; sequence-specific DNA binding [GO:0043565]; SMAD binding [GO:0046332]; transcription coactivator activity [GO:0003713]; apoptotic process [GO:0006915]; cardiac conduction [GO:0061337]; cellular response to calcium ion [GO:0071277]; dendrite morphogenesis [GO:0048813]; ERK5 cascade [GO:0070375]; heart development [GO:0007507]; MAPK cascade [GO:0000165]; mitochondrial genome maintenance [GO:0000002]; mitochondrion distribution [GO:0048311]; muscle organ development [GO:0007517]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of glucose import [GO:0046326]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription, DNA-templated [GO:0006351]; ventricular cardiac myofibril assembly [GO:0055005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=MEF2; IsoId=Q02078-1; Sequence=Displayed; Name=MEFA; IsoId=Q02078-2; Sequence=VSP_006240; Name=RSRFC4; IsoId=Q02078-3; Sequence=VSP_006241, VSP_006242; Name=RSRFC9; IsoId=Q02078-4; Sequence=VSP_006240, VSP_006241, VSP_006242; Name=5; IsoId=Q02078-5; Sequence=VSP_006241; Note=No experimental confirmation available.; Name=6; IsoId=Q02078-6; Sequence=VSP_006240, VSP_006241; Note=No experimental confirmation available. {ECO:0000244|PubMed:18669648}; Name=7; IsoId=Q02078-7; Sequence=VSP_043338, VSP_006240; Note=No experimental confirmation available. {ECO:0000244|PubMed:18669648}; Name=8; IsoId=Q02078-8; Sequence=VSP_046018, VSP_046019, VSP_006241; Note=No experimental confirmation available. {ECO:0000244|PubMed:18669648}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00251, ECO:0000269|PubMed:12691662, ECO:0000269|PubMed:16563226}.


uniprotID: Q16820
geneSymbol: MEP1B
pdb: 4GWM;4GWN;
length: 701
go: ENSG00000141434;
snps: rs9959396 rs616114
name:
Meprin A subunit beta (EC 3.4.24.63) (Endopeptidase-2) (Meprin B) (N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit beta) (PABA peptide hydrolase) (PPH beta)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; meprin A complex [GO:0017090]; identical protein binding [GO:0042802]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; inflammatory response [GO:0006954]; toxin transport [GO:1901998]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22988105}; Single-pass type I membrane protein. Secreted {ECO:0000269|PubMed:10215852}. Note=Homodimers are essentially membrane bound but may also be shed from the surface by ADAM-10 and ADAM-17. {ECO:0000269|PubMed:22988105}.


uniprotID: Q9BUN1
geneSymbol: MENT
name: Protein MENT (Methylated in normal thymocytes protein)
length: 341
go: ENSG00000143443;
opentargets: extracellular region [GO:0005576]; regulation of cell proliferation [GO:0042127]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUN1-1; Sequence=Displayed; Name=2; IsoId=Q9BUN1-2; Sequence=VSP_028157, VSP_028158; Note=No experimental confirmation available.; 


uniprotID: P50221
geneSymbol: MEOX1
name: Homeobox protein MOX-1 (Mesenchyme homeobox 1)
length: 254
go: ENSG00000005102;
snps: rs9898682
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; hematopoietic stem cell differentiation [GO:0060218]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; sclerotome development [GO:0061056]; somite development [GO:0061053]; somite specification [GO:0001757]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P50221-1; Sequence=Displayed; Name=2; IsoId=P50221-2; Sequence=VSP_043340; Name=3; IsoId=P50221-3; Sequence=VSP_046700; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P32442}. Cytoplasm {ECO:0000250|UniProtKB:P32442}. Note=Localizes predominantly in the nucleus. {ECO:0000250|UniProtKB:P32442}.


uniprotID: Q7L2J0
geneSymbol: MEPCE
pdb: 5UNA;
length: 689
go: ENSG00000146834;
name:
7SK snRNA methylphosphate capping enzyme (MePCE) (EC 2.1.1.-) (Bicoid-interacting protein 3 homolog) (Bin3 homolog)

sequence:

opentargets:
O-methyltransferase activity [GO:0008171]; RNA binding [GO:0003723]; RNA methyltransferase activity [GO:0008173]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; snRNA binding [GO:0017069]; negative regulation of chromatin binding [GO:0035562]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; RNA methylation [GO:0001510]; snRNA metabolic process [GO:0016073]; snRNA modification [GO:0040031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L2J0-1; Sequence=Displayed; Name=2; IsoId=Q7L2J0-2; Sequence=VSP_044512; Note=No experimental confirmation available.; 


uniprotID: P35240
geneSymbol: NF2
reactome: R-HSA-2029482;R-HSA-5627123;
pdb: 1H4R;3U8Z;4ZRI;4ZRJ;6CDS;
name: Merlin (Moesin-ezrin-radixin-like protein) (Neurofibromin-2) (Schwannomerlin) (Schwannomin)
length: 595
go: ENSG00000186575;
sequence:

opentargets:
adherens junction [GO:0005912]; apical part of cell [GO:0045177]; cell body [GO:0044297]; cleavage furrow [GO:0032154]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; early endosome [GO:0005769]; filopodium membrane [GO:0031527]; lamellipodium [GO:0030027]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; actin binding [GO:0003779]; actin cytoskeleton organization [GO:0030036]; cell-cell junction organization [GO:0045216]; ectoderm development [GO:0007398]; hippocampus development [GO:0021766]; lens fiber cell differentiation [GO:0070306]; mesoderm formation [GO:0001707]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of cell differentiation [GO:0045597]; positive regulation of stress fiber assembly [GO:0051496]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]; regulation of gliogenesis [GO:0014013]; regulation of hippo signaling [GO:0035330]; regulation of neural precursor cell proliferation [GO:2000177]; regulation of protein localization to nucleus [GO:1900180]; regulation of protein stability [GO:0031647]; regulation of stem cell proliferation [GO:0072091]; Schwann cell proliferation [GO:0014010]

snps:
rs121434261 rs771675702 rs764441073 rs74315492 rs766974263 rs765540111 rs74315503 rs74315493 rs74315494 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=I; IsoId=P35240-1; Sequence=Displayed; Name=2; IsoId=P35240-2; Sequence=VSP_000492; Name=3; Synonyms=II; IsoId=P35240-3; Sequence=VSP_007050, VSP_007051; Name=4; Synonyms=delE2/3; IsoId=P35240-4; Sequence=VSP_007041, VSP_007050, VSP_007051; Name=5; Synonyms=delE3; IsoId=P35240-5; Sequence=VSP_007042, VSP_007050, VSP_007051; Name=6; Synonyms=delE2; IsoId=P35240-6; Sequence=VSP_007040, VSP_007050, VSP_007051; Name=7; Synonyms=MER150; IsoId=P35240-7; Sequence=VSP_007045, VSP_007046; Name=8; IsoId=P35240-8; Sequence=VSP_007048, VSP_007050, VSP_007051; Name=9; Synonyms=MER162; IsoId=P35240-9; Sequence=VSP_007044; Name=10; Synonyms=MER151; IsoId=P35240-10; Sequence=VSP_007041, VSP_007043, VSP_007047, VSP_007049; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Binds with DCAF1 in the nucleus. The intramolecular association of the FERM domain with the C-terminal tail promotes nuclear accumulation. The unphosphorylated form accumulates predominantly in the nucleus while the phosphorylated form is largely confined to the non-nuclear fractions.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia.; SUBCELLULAR LOCATION: Isoform 9: Cytoplasm, perinuclear region. Cytoplasmic granule. Note=Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia.; SUBCELLULAR LOCATION: Isoform 10: Nucleus. Cell projection, filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, perinuclear region. Cytoplasmic granule. Cytoplasm, cytoskeleton. Note=In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia.


uniprotID: Q8N4P3
geneSymbol: HDDC3
pdb: 3NR1;5VXA;
length: 179
go: ENSG00000184508;
name:
Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 (EC 3.1.7.2) (HD domain-containing protein 3) (Metazoan SpoT homolog 1) (MESH1) (Penta-phosphate guanosine-3'-pyrophosphohydrolase) ((ppGpp)ase)

sequence:
MGSEAAQLLEAADFAARKHRQQRRKDPEGTPYINHPIGVARILTHEAGITDIVVLQAALLHDTVEDTDTTLDEVELHFGAQVRRLVEEVTDDKTLPKLERKRLQVEQAPHSSPGAKLVKLADKLYNLRDLNRCTPEGWSEHRVQEYFEWAAQVVKGLQGTNRQLEEALKHLFKQRGLTI

opentargets:
guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity [GO:0008893]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4P3-1; Sequence=Displayed; Name=2; IsoId=Q8N4P3-2; Sequence=VSP_021866, VSP_021867; Note=No experimental confirmation available.; 


uniprotID: Q5EB52
geneSymbol: MEST
name: Mesoderm-specific transcript homolog protein (EC 3.-.-.-) (Paternally-expressed gene 1 protein)
length: 335
go: ENSG00000106484;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; hydrolase activity [GO:0016787]; mesoderm development [GO:0007498]; regulation of lipid storage [GO:0010883]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5EB52-1; Sequence=Displayed; Name=2; Synonyms=Isoform b; IsoId=Q5EB52-2; Sequence=VSP_024532; Name=3; IsoId=Q5EB52-3; Sequence=VSP_024532, VSP_024533; Note=No experimental confirmation available.; 


uniprotID: Q9HCE5
geneSymbol: METTL14
reactome: R-HSA-72203;
pdb: 5IL0;5IL1;5IL2;5K7M;5K7U;5K7W;5L6D;5L6E;5TEY;
name: N6-adenosine-methyltransferase non-catalytic subunit (Methyltransferase-like protein 14) (hMETTL14)
length: 456
go: ENSG00000145388;
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA N6-methyladenosine methyltransferase complex [GO:0036396]; mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity [GO:0016422]; mRNA binding [GO:0003729]; forebrain radial glial cell differentiation [GO:0021861]; gliogenesis [GO:0042063]; mRNA catabolic process [GO:0006402]; mRNA destabilization [GO:0061157]; mRNA methylation [GO:0080009]; mRNA splicing, via spliceosome [GO:0000398]; spermatogenesis [GO:0007283]; stem cell population maintenance [GO:0019827]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24316715, ECO:0000269|PubMed:24407421, ECO:0000269|PubMed:26458103, ECO:0000269|PubMed:29348140}.


uniprotID: P53602
geneSymbol: MVD
reactome: R-HSA-191273;R-HSA-2426168;R-HSA-446199;
pdb: 3D4J;
length: 400
go: ENSG00000167508;
name:
Diphosphomevalonate decarboxylase (EC 4.1.1.33) (Mevalonate (diphospho)decarboxylase) (MDDase) (Mevalonate pyrophosphate decarboxylase)

sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; diphosphomevalonate decarboxylase activity [GO:0004163]; Hsp70 protein binding [GO:0030544]; protein homodimerization activity [GO:0042803]; cholesterol biosynthetic process [GO:0006695]; dolichyl diphosphate biosynthetic process [GO:0006489]; isopentenyl diphosphate biosynthetic process, mevalonate pathway [GO:0019287]; isoprenoid biosynthetic process [GO:0008299]; positive regulation of cell proliferation [GO:0008284]; regulation of cholesterol biosynthetic process [GO:0045540]

snps:
rs200033380 rs776358937 rs144010349 rs770939767 rs776684503 rs761991070 rs34519538 rs755948940 rs546127665 


uniprotID: A6NJ78
geneSymbol: METTL15
length: 407
go: ENSG00000169519;
opentargets: rRNA (cytosine-N4-)-methyltransferase activity [GO:0071424]; rRNA base methylation [GO:0070475]
snps: rs2883478 rs11823114 rs11030280
name:
Probable methyltransferase-like protein 15 (EC 2.1.1.-) (Methyltransferase 5 domain-containing protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A6NJ78-1; Sequence=Displayed; Name=2; IsoId=A6NJ78-2; Sequence=VSP_028973, VSP_028974; Name=3; IsoId=A6NJ78-3; Sequence=VSP_028970, VSP_028971; Name=4; IsoId=A6NJ78-4; Sequence=VSP_028972, VSP_028975; 


uniprotID: P10243
geneSymbol: MYBL1
reactome: R-HSA-5601884;
name: Myb-related protein A (A-Myb) (Myb-like protein 1)
length: 752
go: ENSG00000185697;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P51960}.
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 polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; male meiosis I [GO:0007141]; mitotic cell cycle [GO:0000278]; negative regulation of transposition [GO:0010529]; piRNA biosynthetic process [GO:1990511]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10243-1; Sequence=Displayed; Name=2; IsoId=P10243-2; Sequence=VSP_042912; Note=No experimental confirmation available.; 


uniprotID: Q99417
geneSymbol: MYCBP
pdb: 2YY0;
name: c-Myc-binding protein (Associate of Myc 1) (AMY-1)
length: 103
go: ENSG00000214114;
sequence:
MAHYKAADSKREQFRRYLEKSGVLDTLTKVLVALYEEPEKPNSALDFLKHHLGAATPENPEIELLRLELAEMKEKYEAIVEENKKLKAKLAQYEPPQEEKRAE

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; transcription coactivator activity [GO:0003713]; regulation of transcription, DNA-templated [GO:0006355]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion. Note=Translocates into the nucleus in the S phase of the cell cycle upon an increase of MYC expression. Found in the mitochondria when associated with AKAP1.


uniprotID: Q8N699
geneSymbol: MYCT1
name: Myc target protein 1 (Myc target in myeloid cells protein 1)
length: 235
go: ENSG00000120279;
opentargets: intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]
snps: rs17710008 rs17852097
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12673574}. Note=Expressed in nuclei of hepatocellular carcinoma cell line BEL-7402 cells.


uniprotID: Q96QE2
geneSymbol: SLC2A13
reactome: R-HSA-429593;
length: 648
go: ENSG00000151229;
name:
Proton myo-inositol cotransporter (H(+)-myo-inositol cotransporter) (Hmit) (H(+)-myo-inositol symporter) (Solute carrier family 2 member 13)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate:proton symporter activity [GO:0005351]; glucose transmembrane transporter activity [GO:0005355]; myo-inositol:proton symporter activity [GO:0005366]; hexose transmembrane transport [GO:0008645]; myo-inositol transport [GO:0015798]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11500374}; Multi-pass membrane protein {ECO:0000269|PubMed:11500374}.


uniprotID: P23409
geneSymbol: MYF6
reactome: R-HSA-375170;
length: 242
go: ENSG00000111046;
snps: rs138296448 rs28928909
location: SUBCELLULAR LOCATION: Nucleus.
name:
Myogenic factor 6 (Myf-6) (Class C basic helix-loop-helix protein 4) (bHLHc4) (Muscle-specific regulatory factor 4)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; muscle cell fate commitment [GO:0042693]; muscle tissue morphogenesis [GO:0060415]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle tissue development [GO:0007519]; skeletal muscle tissue regeneration [GO:0043403]; somitogenesis [GO:0001756]


uniprotID: Q8TCB7
geneSymbol: METTL6
name: Methyltransferase-like protein 6 (EC 2.1.1.-)
length: 284
go: ENSG00000206562;
sequence:

opentargets:
tRNA (cytosine-5-)-methyltransferase activity [GO:0016428]; tRNA C5-cytosine methylation [GO:0002946]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TCB7-1; Sequence=Displayed; Name=2; IsoId=Q8TCB7-2; Sequence=VSP_008480; Note=No experimental confirmation available.; 


uniprotID: Q9H1A3
geneSymbol: METTL9
name: Methyltransferase-like protein 9 (DORA reverse strand protein) (DREV) (DREV1)
length: 318
go: ENSG00000197006;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H1A3-1; Sequence=Displayed; Name=2; IsoId=Q9H1A3-2; Sequence=VSP_030997; 


uniprotID: Q13126
geneSymbol: MTAP
reactome: R-HSA-1237112;R-HSA-8950505;
pdb: 1CB0;1CG6;1K27;1SD1;1SD2;3LN5;3OZC;3OZD;3OZE;5EUB;5TC5;5TC6;5TC7;5TC8;
length: 283
go: ENSG00000099810;
drug: DB02933;DB02282;DB00173;DB02281;
snps: rs7023954
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000255|HAMAP-Rule:MF_03155}.
name:
S-methyl-5'-thioadenosine phosphorylase (EC 2.4.2.28) (5'-methylthioadenosine phosphorylase) (MTA phosphorylase) (MTAP) (MTAPase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; phosphorylase activity [GO:0004645]; S-methyl-5-thioadenosine phosphorylase activity [GO:0017061]; interleukin-12-mediated signaling pathway [GO:0035722]; L-methionine salvage from methylthioadenosine [GO:0019509]; nucleobase-containing compound metabolic process [GO:0006139]; purine ribonucleoside salvage [GO:0006166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q13126-1; Sequence=Displayed; Name=2; Synonyms=MTAP_v1; IsoId=Q13126-2; Sequence=VSP_044074; Name=3; Synonyms=MTAP_v2; IsoId=Q13126-3; Sequence=VSP_044075; Name=4; Synonyms=MTAP_v3; IsoId=Q13126-4; Sequence=VSP_044076; Name=5; Synonyms=MTAP_v4; IsoId=Q13126-5; Sequence=VSP_044071; Name=6; Synonyms=MTAP_v5; IsoId=Q13126-6; Sequence=VSP_044072; Name=7; Synonyms=MTAP_v6; IsoId=Q13126-7; Sequence=VSP_044073; 


uniprotID: Q8N5U1
geneSymbol: MS4A15
name: Membrane-spanning 4-domains subfamily A member 15
length: 240
go: ENSG00000166961;
opentargets: integral component of membrane [GO:0016021]
snps: rs12363342 rs1032939
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N5U1-1; Sequence=Displayed; Name=2; IsoId=Q8N5U1-2; Sequence=VSP_031669; Name=3; IsoId=Q8N5U1-3; Sequence=VSP_053907; 


uniprotID: A6NCF6
geneSymbol: MAGEA13P
name: Putative MAGE domain-containing protein MAGEA13P
length: 341
sequence:


uniprotID: Q16706
geneSymbol: MAN2A1
reactome: R-HSA-6811438;R-HSA-975578;
length: 1144
go: ENSG00000112893;
drug: DB03955;DB02318;DB03008;DB03414;DB02492;DB02742;DB02034;
name:
Alpha-mannosidase 2 (EC 3.2.1.114) (Golgi alpha-mannosidase II) (AMan II) (Man II) (Mannosidase alpha class 2A member 1) (Mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; extracellular exosome [GO:0070062]; Golgi medial cisterna [GO:0005797]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 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]; in utero embryonic development [GO:0001701]; liver development [GO:0001889]; lung alveolus development [GO:0048286]; mannose metabolic process [GO:0006013]; mitochondrion organization [GO:0007005]; N-glycan processing [GO:0006491]; positive regulation of neurogenesis [GO:0050769]; protein deglycosylation [GO:0006517]; protein glycosylation [GO:0006486]; respiratory gaseous exchange [GO:0007585]; retina morphogenesis in camera-type eye [GO:0060042]; vacuole organization [GO:0007033]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:P28494}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:P28494}.


uniprotID: Q9Y2E5
geneSymbol: MAN2B2
reactome: R-HSA-8853383;
name: Epididymis-specific alpha-mannosidase (EC 3.2.1.24) (Mannosidase alpha class 2B member 2)
length: 1009
go: ENSG00000013288;
snps: rs2301796 rs2301795 rs6858328 rs2301790 rs2301788
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; vacuolar membrane [GO:0005774]; alpha-mannosidase activity [GO:0004559]; carbohydrate binding [GO:0030246]; mannan endo-1,6-alpha-mannosidase activity [GO:0008496]; metal ion binding [GO:0046872]; mannose metabolic process [GO:0006013]; oligosaccharide catabolic process [GO:0009313]; protein deglycosylation [GO:0006517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2E5-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E5-2; Sequence=VSP_013816; Note=No experimental confirmation available.; 


uniprotID: Q9NTJ4
geneSymbol: MAN2C1
reactome: R-HSA-8853383;
length: 1040
go: ENSG00000140400;
snps: rs200595616 rs58557444 rs3803467 rs3803466 rs5745934
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16848760}.
name:
Alpha-mannosidase 2C1 (EC 3.2.1.24) (Alpha mannosidase 6A8B) (Alpha-D-mannoside mannohydrolase) (Mannosidase alpha class 2C member 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; alpha-mannosidase activity [GO:0004559]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; mannose metabolic process [GO:0006013]; oligosaccharide catabolic process [GO:0009313]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NTJ4-1; Sequence=Displayed; Name=2; IsoId=Q9NTJ4-2; Sequence=VSP_046375; Note=No experimental confirmation available.; Name=3; IsoId=Q9NTJ4-3; Sequence=VSP_046395; Note=No experimental confirmation available.; Name=4; IsoId=Q9NTJ4-4; Sequence=VSP_046895; Note=Gene prediction based on EST data.; 


uniprotID: Q9H9H5
geneSymbol: MAP6D1
name: MAP6 domain-containing protein 1 (21 kDa STOP-like protein) (SL21)
length: 199
go: ENSG00000180834;
sequence:
MAWPCISRLCCLARRWNQLDRSDVAVPLTLHGYSDLDSEEPGTGGAASRRGQPPAGARDSGRDVPLTQYQRDFGLWTTPAGPKDPPPGRGPGAGGRRGKSSAQSSAPPAPGARGVYVLPIGDADAAAAVTTSYRQEFQAWTGVKPSRSTKTKPARVITTHTSGWDSSPGAGFQVPEVRKKFTPNPSAIFQASAPRILNV

opentargets:
cis-Golgi network [GO:0005801]; Golgi-associated vesicle [GO:0005798]; microtubule [GO:0005874]; calmodulin binding [GO:0005516]; microtubule binding [GO:0008017]; cytoskeleton-dependent intracellular transport [GO:0030705]; microtubule cytoskeleton organization [GO:0000226]; N-terminal peptidyl-L-cysteine N-palmitoylation [GO:0018009]; negative regulation of microtubule depolymerization [GO:0007026]; regulation of microtubule cytoskeleton organization [GO:0070507]

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with microtubules. {ECO:0000250}.


uniprotID: O43708
geneSymbol: GSTZ1
reactome: R-HSA-156590;R-HSA-204174;R-HSA-71182;
pdb: 1FW1;
length: 216
go: ENSG00000100577;
drug: DB00143;
snps: rs7975 rs7972 rs1046428 rs2234955
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Maleylacetoacetate isomerase (MAAI) (EC 5.2.1.2) (GSTZ1-1) (Glutathione S-transferase zeta 1) (EC 2.5.1.18)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; glutathione peroxidase activity [GO:0004602]; glutathione transferase activity [GO:0004364]; hydrolase activity, acting on acid halide bonds, in C-halide compounds [GO:0019120]; identical protein binding [GO:0042802]; maleylacetoacetate isomerase activity [GO:0016034]; protein homodimerization activity [GO:0042803]; glutathione derivative biosynthetic process [GO:1901687]; glutathione metabolic process [GO:0006749]; L-phenylalanine catabolic process [GO:0006559]; regulation of acetyl-CoA biosynthetic process from pyruvate [GO:0010510]; tyrosine catabolic process [GO:0006572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43708-1; Sequence=Displayed; Name=2; IsoId=O43708-2; Sequence=VSP_039862; Name=3; IsoId=O43708-3; Sequence=VSP_047392; Note=Gene prediction based on EST data.; 


uniprotID: Q5TCX8
geneSymbol: MAP3K21
pdb: 4UYA;
length: 1036
go: ENSG00000143674;
name:
Mitogen-activated protein kinase kinase kinase 21 (EC 2.7.11.25) (Mitogen-activated protein kinase kinase kinase MLK4) (Mixed lineage kinase 4)

sequence:

opentargets:
intracellular [GO:0005622]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; protein homodimerization activity [GO:0042803]; activation of JUN kinase activity [GO:0007257]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]

snps:
rs35465006 rs35758282 rs34984140 rs3795375 rs3795374 rs963981 rs55681416 rs34499091 rs56065162 rs34794284 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|Ref.1}; Synonyms=MLK4beta; IsoId=Q5TCX8-1; Sequence=Displayed; Name=2 {ECO:0000269|Ref.1}; Synonyms=MLK4alpha; IsoId=Q5TCX8-2; Sequence=VSP_051733, VSP_051734; Name=3; IsoId=Q5TCX8-3; Sequence=VSP_051731, VSP_051732; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9Y2U5
geneSymbol: MAP3K2
pdb: 2CU1;2NPT;5EX0;5HQ8;
length: 619
go: ENSG00000169967;
drug: DB06616;
snps: rs55767983 rs56307783
name:
Mitogen-activated protein kinase kinase kinase 2 (EC 2.7.11.25) (MAPK/ERK kinase kinase 2) (MEK kinase 2) (MEKK 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; MAP kinase kinase kinase activity [GO:0004709]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; activation of JUN kinase activity [GO:0007257]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; cellular response to mechanical stimulus [GO:0071260]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15075238}. Nucleus {ECO:0000269|PubMed:15075238}. Note=Upon EGF stimulation, translocates into the nucleus.


uniprotID: Q05195
geneSymbol: MXD1
pdb: 1E91;1G1E;1NLW;1PD7;1S5Q;
name: Max dimerization protein 1 (Max dimerizer 1) (Protein MAD)
length: 221
go: ENSG00000059728;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coregulator activity [GO:0003712]; transcription corepressor activity [GO:0003714]; cell proliferation [GO:0008283]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q05195-1; Sequence=Displayed; Name=2; IsoId=Q05195-2; Sequence=VSP_043074; Note=No experimental confirmation available.; 


uniprotID: P43364
geneSymbol: MAGEA11
name: Melanoma-associated antigen 11 (Cancer/testis antigen 1.11) (CT1.11) (MAGE-11 antigen)
length: 429
go: ENSG00000185247;
opentargets: cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]
snps: rs2233049
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43364-1; Sequence=Displayed; Name=2; IsoId=P43364-2; Sequence=VSP_018576; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15684378}. Cytoplasm {ECO:0000269|PubMed:15684378}.


