ENSG00000109458


Homo sapiens

Features
Gene ID: ENSG00000109458
  
Biological name :GAB1
  
Synonyms : GAB1 / GRB2 associated binding protein 1 / Q13480
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q31.21
Gene start: 143336762
Gene end: 143474568
  
Corresponding Affymetrix probe sets: 1557030_at (Human Genome U133 Plus 2.0 Array)   1560382_at (Human Genome U133 Plus 2.0 Array)   207112_s_at (Human Genome U133 Plus 2.0 Array)   214987_at (Human Genome U133 Plus 2.0 Array)   225998_at (Human Genome U133 Plus 2.0 Array)   226002_at (Human Genome U133 Plus 2.0 Array)   229114_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000424554
Ensembl peptide - ENSP00000420867
Ensembl peptide - ENSP00000425921
Ensembl peptide - ENSP00000427435
Ensembl peptide - ENSP00000426668
Ensembl peptide - ENSP00000426297
Ensembl peptide - ENSP00000262994
Ensembl peptide - ENSP00000262995
NCBI entrez gene - 2549     See in Manteia.
OMIM - 604439
RefSeq - XM_017007971
RefSeq - NM_002039
RefSeq - NM_207123
RefSeq - XM_006714167
RefSeq - XM_006714168
RefSeq - XM_017007966
RefSeq - XM_017007967
RefSeq - XM_017007968
RefSeq - XM_017007969
RefSeq - XM_017007970
RefSeq Peptide - NP_002030
RefSeq Peptide - NP_997006
swissprot - D6RF42
swissprot - H0Y8F4
swissprot - D6RIS0
swissprot - Q13480
swissprot - B7Z3B9
swissprot - H0YA71
swissprot - D6RIF8
Ensembl - ENSG00000109458
  
Related genetic diseases (OMIM): 605428 - ?Deafness, autosomal recessive 26, 605428
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gab1ENSDARG00000037018Danio rerio
 GAB1ENSGALG00000009898Gallus gallus
 Gab1ENSMUSG00000031714Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GAB2 / Q9UQC2 / GRB2 associated binding protein 2ENSG0000003332736
GAB4 / Q2WGN9 / GRB2 associated binding protein family member 4ENSG0000021556824
GAB3 / Q8WWW8 / GRB2 associated binding protein 3ENSG0000016021924


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR011993  PH-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0008286 insulin receptor signaling pathway TAS
 biological_processGO:0031532 actin cytoskeleton reorganization IMP
 biological_processGO:0035728 response to hepatocyte growth factor IEA
 biological_processGO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA
 biological_processGO:0038084 vascular endothelial growth factor signaling pathway IMP
 biological_processGO:0038089 positive regulation of cell migration by vascular endothelial growth factor signaling pathway ISS
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0090668 endothelial cell chemotaxis to vascular endothelial growth factor IMP
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005070 SH3/SH2 adaptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016303 1-phosphatidylinositol-3-kinase activity TAS
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
PI3K Cascade
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
PIP3 activates AKT signaling
GAB1 signalosome
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Constitutive Signaling by EGFRvIII
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
MET activates PI3K/AKT signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RET signaling
MET activates PTPN11
MET activates RAP1 and RAC1
MET receptor recycling
Activated NTRK2 signals through PI3K


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000187266 EPOR / P19235 / erythropoietin receptor  / complex / reaction
 ENSG00000019991 HGF / P14210 / hepatocyte growth factor  / complex / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex
 ENSG00000130427 EPO / P01588 / erythropoietin  / reaction / complex
 ENSG00000125650 PSPN / O60542 / persephin  / complex
 ENSG00000118972 FGF23 / Q9GZV9 / fibroblast growth factor 23  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000168621 GDNF / P39905 / glial cell derived neurotrophic factor  / complex
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / complex / reaction
 ENSG00000066468 FGFR2 / P21802 / fibroblast growth factor receptor 2  / reaction / complex
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / complex / reaction
 ENSG00000147475 ERLIN2 / O94905 / ER lipid raft associated 2  / complex / reaction
 ENSG00000068078 FGFR3 / P22607 / fibroblast growth factor receptor 3  / reaction / complex
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000165731 RET / P07949 / ret proto-oncogene  / complex
 ENSG00000146013 GFRA3 / O60609 / GDNF family receptor alpha 3  / complex
 ENSG00000171119 NRTN / Q99748 / neurturin  / complex
 ENSG00000160867 FGFR4 / P22455 / fibroblast growth factor receptor 4  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / reaction / complex
 ENSG00000105976 MET / P08581 / MET proto-oncogene, receptor tyrosine kinase  / reaction / complex
 ENSG00000125447 GGA3 / Q9NZ52 / golgi associated, gamma adaptin ear containing, ARF binding protein 3  / complex
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000162344 FGF19 / O95750 / fibroblast growth factor 19  / reaction / complex
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / reaction / complex
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex / reaction
 ENSG00000151892 GFRA1 / P56159 / GDNF family receptor alpha 1  / complex
 ENSG00000107263 Q13905 / RAPGEF1 / Rap guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / complex / reaction
 ENSG00000099942 CRKL / P46109 / CRK like proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000077782 FGFR1 / P11362 / fibroblast growth factor receptor 1  / reaction / complex
 ENSG00000117407 ARTN / Q5T4W7 / artemin  / complex
 ENSG00000125861 GFRA4 / Q9GZZ7 / GDNF family receptor alpha 4  / complex
 ENSG00000165527 ARF6 / P62330 / ADP ribosylation factor 6  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000168546 GFRA2 / O00451 / GDNF family receptor alpha 2  / complex
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / reaction / complex
 ENSG00000134962 KLB / Q86Z14 / klotho beta  / complex / reaction
 ENSG00000133116 KL / klotho / Q9UEF7  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex
 ENSG00000141506 PIK3R5 / Q8WYR1 / phosphoinositide-3-kinase regulatory subunit 5  / complex / reaction
 ENSG00000148053 NTRK2 / Q16620 / neurotrophic receptor tyrosine kinase 2  / complex
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / reaction / complex
 ENSG00000176697 BDNF / P23560 / brain derived neurotrophic factor  / complex
 ENSG00000105851 P48736 / PIK3CG / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma  / complex / reaction
 ENSG00000225950 NTF4 / P34130 / neurotrophin 4  / complex






 

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