Human Gene GAB1 (ENST00000262994.9_5) from GENCODE V47lift37
Description: GRB2 associated binding protein 1, transcript variant 2 (from RefSeq NM_002039.4)Gencode Transcript: ENST00000262994.9_5Gencode Gene: ENSG00000109458.10_18Transcript (Including UTRs) Position: hg19 chr4:144,258,029-144,395,718 Size: 137,690 Total Exon Count: 10 Strand: +Coding Region Position: hg19 chr4:144,258,342-144,390,342 Size: 132,001 Coding Exon Count: 10
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: GAB1_HUMAN DESCRIPTION: RecName: Full=GRB2-associated-binding protein 1; AltName: Full=GRB2-associated binder 1; AltName: Full=Growth factor receptor bound protein 2-associated protein 1;FUNCTION: Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR).SUBUNIT: Interacts with GRB2 and with other SH2-containing proteins. Interacts with phosphorylated LAT2. Interacts with PTPRJ. Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Interacts (phosphorylated) with PTPN11. Interacts with HCK.INTERACTION: Q06124:PTPN11; NbExp=3; IntAct=EBI-517684, EBI-297779;PTM: Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.SIMILARITY: Belongs to the GAB family.SIMILARITY: Contains 1 PH domain.WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gab1/";
Primer design for this transcript
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
D013749
Tetrachlorodibenzodioxin
C006780
bisphenol A
C028474
1,4-bis(2-(3,5-dichloropyridyloxy))benzene
D015632
1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
C014024
2,4,5,2',4',5'-hexachlorobiphenyl
C023514
2,6-dinitrotoluene
C548651
2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
C049584
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
D000082
Acetaminophen
D000393
Air Pollutants
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Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR011993 - PH_like_domIPR001849 - Pleckstrin_homologyPfam Domains: PF00169 - PH domainSCOP Domains: 50729 - PH domain-likeModBase Predicted Comparative 3D Structure on Q13480 The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005070 SH3/SH2 adaptor activityGO:0005515 protein bindingGO:0016303 1-phosphatidylinositol-3-kinase activityGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activityBiological Process: GO:0001525 angiogenesisGO:0007173 epidermal growth factor receptor signaling pathwayGO:0007411 axon guidanceGO:0008283 cell proliferationGO:0008286 insulin receptor signaling pathwayGO:0031532 actin cytoskeleton reorganizationGO:0035728 response to hepatocyte growth factorGO:0036092 phosphatidylinositol-3-phosphate biosynthetic processGO:0038084 vascular endothelial growth factor signaling pathwayGO:0038089 positive regulation of cell migration by vascular endothelial growth factor signaling pathwayGO:0038128 ERBB2 signaling pathwayGO:0045766 positive regulation of angiogenesisGO:0046854 phosphatidylinositol phosphorylationGO:0051897 positive regulation of protein kinase B signalingGO:0090668 endothelial cell chemotaxis to vascular endothelial growth factorCellular Component: GO:0005829 cytosol
Descriptions from all associated GenBank mRNAs
AK289767 - Homo sapiens cDNA FLJ75581 complete cds, highly similar to Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 2, mRNA.BC064848 - Homo sapiens GRB2-associated binding protein 1, mRNA (cDNA clone MGC:75491 IMAGE:30386955), complete cds.U43885 - Human Grb2-associated binder-1 mRNA, complete cds.AK314635 - Homo sapiens cDNA, FLJ95478.AB527823 - Synthetic construct DNA, clone: pF1KB5718, Homo sapiens GAB1 gene for GRB2-associated binding protein 1, without stop codon, in Flexi system.CU687958 - Synthetic construct Homo sapiens gateway clone IMAGE:100022843 5' read GAB1 mRNA.KJ891211 - Synthetic construct Homo sapiens clone ccsbBroadEn_00605 GAB1 gene, encodes complete protein.AK295684 - Homo sapiens cDNA FLJ53999 complete cds, highly similar to GRB2-associated-binding protein 1.AK022142 - Homo sapiens cDNA FLJ12080 fis, clone HEMBB1002477, highly similar to Human Grb2-associated binder-1 mRNA.JD331354 - Sequence 312378 from Patent EP1572962.BC030115 - Homo sapiens cDNA clone IMAGE:4801326.AL049449 - Homo sapiens mRNA; cDNA DKFZp586B1722 (from clone DKFZp586B1722).
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO) Reactome details) participates in the following event(s):R-HSA-177920 Binding of GRB2 to GAB1R-HSA-8851908 Activated MET binds GAB1R-HSA-8851919 Activated MET binds GAB1 and GRB2R-HSA-177931 Binding of PIK3 regulatory alpha subunit to GRB2:GAB1R-HSA-179467 GAB1 binds phosphatidylinositol-3,4,5-trisphosphateR-HSA-1306963 Binding of GRB2:GAB1 to p-ERBB2:p-EGFRR-HSA-1226016 Binding of GRB2:GAB1:PIK3R1 complex to ligand-responsive p-6Y-EGFR mutantsR-HSA-5637764 Binding of GRB2:GAB1:PIK3R1 complex to p-EGFRvIII mutantR-HSA-5654592 Activated FGFR1:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5654594 Activated FGFR1:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1R-HSA-5654612 Activated FGFR2:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5654620 Activated FGFR2:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1R-HSA-5654637 Activated FGFR3:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5654641 Activated FGFR3:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1R-HSA-5654659 Activated FGFR4:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5654667 Activated FGFR4:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1R-HSA-5655240 Activated FGFR1 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5655248 Activated FGFR4 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5655315 Activated FGFR3 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-5655320 Activated FGFR2 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-8853316 Activated FGFR3 fusions:p-FRS2 binds GRB2:GAB1:PIK3R1R-HSA-1306965 Binding of PI3K to GRB2:GAB1 in complex with phosphorylated heterodimer of ERBB2 and EGFR.R-HSA-177941 GRB2:GAB1 binds to phosphorylated EGFRR-HSA-8851933 MET phosphorylates GAB1R-HSA-8851954 Phosphorylated GAB1 recruits PI3K to METR-HSA-8865994 GAB1 binds PTPN11R-HSA-8875540 GAB1 recruits CRK,CRKL to METR-HSA-8855508 p-5Y-GAB in RET-GRB2-GAB complexes binds PTPN11R-HSA-1226012 Binding of PI3K p110 subunit alpha (PIK3CA) to complex of GRB2:GAB1:PIK3R1 and ligand-responsive p-6Y-EGFR mutantsR-HSA-5637765 Binding of PI3K p110 subunit alpha (PIK3CA) to complex of GRB2:GAB1:PIK3R1 and p-EGFRvIIIR-HSA-5654596 Activated FGFR1:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-5654591 Activated FGFR1:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CAR-HSA-5654614 Activated FGFR2:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CAR-HSA-5654662 Activated FGFR4:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CAR-HSA-5654622 Activated FGFR2:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-5654643 Activated FGFR3:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-5654640 Activated FGFR3:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CAR-HSA-5654669 Activated FGFR4:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1binds PIK3CAR-HSA-5655263 Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-5655285 Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-5655245 Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-5655252 Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-8853308 Activated FGFR3 fusions:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CAR-HSA-177930 GAB1 phosphorylation by EGFR kinaseR-HSA-177927 PI3K binds to EGF:EGFR:GRB2:GAB1R-HSA-177944 Activation of SHP2 through the binding to phospho-Gab1R-HSA-177935 SHP2 dephosphorylates Tyr 992 on EGFRR-HSA-8875558 RAPGEF1 binds CRK,CRKLR-HSA-177924 Dephosphorylation of Gab1 by SHP2R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3R-HSA-8852019 MET bound PI3K generates PIP3R-HSA-1226014 Conversion of PIP2 to PIP3 by PI3K bound to ligand-responsive p-6Y-EGFR mutantsR-HSA-5637801 Conversion of PIP2 to PIP3 by PI3K bound to phosphorylated EGFRvIIIR-HSA-5654692 FGFR1- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654690 FGFR1-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654701 FGFR2-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654717 FGFR4-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654697 FGFR2- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654709 FGFR3- and PTPN11-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654705 FGFR3-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5654714 FGFR4- and PTPN11-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5655290 Activated FGFR1 mutant-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5655289 Activated FGFR3 mutant-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5655323 Activated FGFR2 mutant-associated PI3K phosphorylates PIP2 to PIP3R-HSA-5655235 Activated FGFR4 mutant-associated PI3K phosphorylates PIP2 to PIP3R-HSA-8853323 Activated FGFR3 fusion-associated PI3K phosphorylates PIP2 to PIP3R-HSA-1306957 PIP2 to PIP3 conversion by PI3K bound to GRB2:GAB1 in complex with phosphorylated heterodimer of ERBB2 and EGFRR-HSA-177939 PI3K converts phosphatidylinositol-4,5-bisphosphate (PIP2) to phosphatidylinositol-3,4,5-trisphosphate (PIP3)R-HSA-177923 Sustained activation of SRC kinase by SHP2R-HSA-177926 Dephosphorylation of PAG by SHP2R-HSA-2400009 PI3K inhibitors block PI3K catalytic activityR-HSA-2316434 PI3K phosphorylates PIP2 to PIP3R-HSA-8875568 RAPGEF1 activates RAP1R-HSA-180292 GAB1 signalosomeR-HSA-8851907 MET activates PI3K/AKT signalingR-HSA-5654689 PI-3K cascade:FGFR1R-HSA-5654695 PI-3K cascade:FGFR2R-HSA-5654710 PI-3K cascade:FGFR3R-HSA-5654720 PI-3K cascade:FGFR4R-HSA-1963642 PI3K events in ERBB2 signalingR-HSA-9028335 Activated NTRK2 signals through PI3KR-HSA-8853659 RET signalingR-HSA-177929 Signaling by EGFRR-HSA-6806834 Signaling by METR-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer VariantsR-HSA-5637810 Constitutive Signaling by EGFRvIIIR-HSA-5655302 Signaling by FGFR1 in diseaseR-HSA-5655291 Signaling by FGFR4 in diseaseR-HSA-8853338 Signaling by FGFR3 point mutants in cancerR-HSA-5655253 Signaling by FGFR2 in diseaseR-HSA-8853334 Signaling by FGFR3 fusions in cancerR-HSA-5654687 Downstream signaling of activated FGFR1R-HSA-5654696 Downstream signaling of activated FGFR2R-HSA-5654708 Downstream signaling of activated FGFR3R-HSA-5654716 Downstream signaling of activated FGFR4R-HSA-1227986 Signaling by ERBB2R-HSA-9006115 Signaling by NTRK2 (TRKB)R-HSA-422475 Axon guidanceR-HSA-9006934 Signaling by Receptor Tyrosine KinasesR-HSA-8865999 MET activates PTPN11R-HSA-8875555 MET activates RAP1 and RAC1R-HSA-5637815 Signaling by Ligand-Responsive EGFR Variants in CancerR-HSA-5637812 Signaling by EGFRvIII in CancerR-HSA-1226099 Signaling by FGFR in diseaseR-HSA-5655332 Signaling by FGFR3 in diseaseR-HSA-5654736 Signaling by FGFR1R-HSA-5654738 Signaling by FGFR2R-HSA-5654741 Signaling by FGFR3R-HSA-5654743 Signaling by FGFR4R-HSA-166520 Signaling by NTRKsR-HSA-1266738 Developmental BiologyR-HSA-162582 Signal TransductionR-HSA-8875656 MET receptor recyclingR-HSA-8875878 MET promotes cell motilityR-HSA-1643713 Signaling by EGFR in CancerR-HSA-5663202 Diseases of signal transductionR-HSA-190236 Signaling by FGFRR-HSA-109704 PI3K CascadeR-HSA-1643685 DiseaseR-HSA-112399 IRS-mediated signallingR-HSA-2219530 Constitutive Signaling by Aberrant PI3K in CancerR-HSA-1257604 PIP3 activates AKT signalingR-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingR-HSA-74751 Insulin receptor signalling cascadeR-HSA-2428928 IRS-related events triggered by IGF1RR-HSA-2219528 PI3K/AKT Signaling in CancerR-HSA-9006925 Intracellular signaling by second messengersR-HSA-199418 Negative regulation of the PI3K/AKT networkR-HSA-74752 Signaling by Insulin receptorR-HSA-2428924 IGF1R signaling cascadeR-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
Other Names for This Gene
Alternate Gene Symbols: A8K152, ENST00000262994.1, ENST00000262994.2, ENST00000262994.3, ENST00000262994.4, ENST00000262994.5, ENST00000262994.6, ENST00000262994.7, ENST00000262994.8, GAB1_HUMAN, NM_002039, Q13480, Q4W5G2, Q6P1W2, uc317hfn.1, uc317hfn.2UCSC ID: ENST00000262994.9_5RefSeq Accession: NM_002039.4 Protein: Q13480
(aka GAB1_HUMAN)
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
