GRB2-associated-binding protein 1

GAB1
Identifiers
Aliases	GAB1, GRB2 associated binding protein 1, DFNB26
External IDs	OMIM: 604439; MGI: 108088; GeneCards: GAB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4QSY
Gene location (Human) Chr. Chromosome 4 (human) Band 4q31.21 Start 143,336,762 bp End 143,474,568 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 C2 Start 81,491,067 bp End 81,607,148 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte epithelium of colon endothelial cell corpus callosum ventricular zone trigeminal ganglion sural nerve inferior ganglion of vagus nerve spinal ganglia internal globus pallidus Top expressed in vestibular membrane of cochlear duct sciatic nerve vestibular sensory epithelium genital tubercle fossa condyle efferent ductule external carotid artery substantia nigra atrioventricular junction More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding 1-phosphatidylinositol-3-kinase activity phosphatidylinositol-4,5-bisphosphate 3-kinase activity Cellular component cytosol Biological process insulin receptor signaling pathway cell population proliferation phosphatidylinositol phosphate biosynthetic process phosphatidylinositol-3-phosphate biosynthetic process ERBB2 signaling pathway axon guidance epidermal growth factor receptor signaling pathway angiogenesis actin cytoskeleton reorganization vascular endothelial growth factor signaling pathway positive regulation of cell migration by vascular endothelial growth factor signaling pathway positive regulation of angiogenesis positive regulation of protein kinase B signaling endothelial cell chemotaxis to vascular endothelial growth factor response to hepatocyte growth factor positive regulation of phosphatidylinositol 3-kinase signaling Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 2549 14388 Ensembl ENSG00000109458 ENSMUSG00000031714 UniProt Q13480 Q9QYY0 RefSeq (mRNA) NM_002039 NM_207123 NM_001301298 NM_021356 RefSeq (protein) NP_002030 NP_997006 NP_001288227 NP_067331 Location (UCSC) Chr 4: 143.34 – 143.47 Mb Chr 8: 81.49 – 81.61 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

GRB2-associated-binding protein 1 is a protein that in humans is encoded by the GAB1 gene.

Function

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. The encoded protein is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. GAB1 is involved also in the tonic pAKT activity in malignant B cells, and induces PI3K activation irrespectively of BCR stimulation by antigen in chronic lymphocytic leukemia.

Interactions

GAB1 has been shown to interact with: