GAB1 - GRB2 associated binding protein 1 Gene

Also Known as DFNB26

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2549

About GAB1

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,336,876-143,474,565 (from NCBI)

This gene has 14 transcripts (splice variants), 258 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 3.3), lung (RPKM 3.0) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It 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. [provided by RefSeq, Aug 2008]

GAB1 Products (2)

mRNA Protein Name
NM_002039.4 NP_002030.2 GRB2-associated-binding protein 1 isoform b
NM_207123.3 NP_997006.1 GRB2-associated-binding protein 1 isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
9658397 GOA
Biological Process GO Annotation Evidence References Source
involved in angiogenesis IMP
IMP: Inferred from mutant phenotype
17178724 GOA
involved in endothelial cell chemotaxis IMP
IMP: Inferred from mutant phenotype
17178724 GOA
involved in positive regulation of angiogenesis IMP
IMP: Inferred from mutant phenotype
25217442 GOA
involved in vascular endothelial growth factor signaling pathway IMP
IMP: Inferred from mutant phenotype
17178724 GOA
Cellular Component GO Annotation Evidence References Source
located in cell-cell junction IMP
IMP: Inferred from mutant phenotype
26706435 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GAB1 Protein Structure

PH

PH: PH domain (6 - 115)

  • 0
  • 200
  • 400
  • 600
  • 694 a.a.
Protein Preferred Names Protein Names

GRB2-associated-binding protein 1

  • GRB2-associated binder 1

GAB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GAB1 Q13480 GTF2A1L Homo sapiens Q9UNN4 25416956
Intra
GAB1 Q13480 GTF2A1L Homo sapiens Q9UNN4 25416956
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124-2 24935154
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124-2 24935154
Intra
GAB1 Q13480 EGFR Homo sapiens P00533 24658140
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 11323411
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 11323411
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 14665621
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 15574420
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 12855672
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124
Y2H
9658397
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 14701753
Intra
GAB1 Q13480 PTPN11 Homo sapiens Q06124 11323411
Intra
GAB1 Q13480 GRB2 Homo sapiens P62993 20936779
Intra
GAB1 Q13480 GRB2 Homo sapiens P62993 31980649
Intra
GAB1 Q13480 GRB2 Homo sapiens P62993
ITC
22536782
Intra
GAB1 Q13480 GRB2 Homo sapiens P62993 10913131
Intra
GAB1 Q13480 PXN Homo sapiens P49023 14665621
Intra
GAB1 Q13480 PIK3R1 Homo sapiens P27986 10978177
Intra
GAB1 Q13480 PIK3R1 Homo sapiens P27986 16638574
Intra
GAB1 Q13480 PIK3R1 Homo sapiens P27986 10978177
Intra
GAB1 Q13480 CRKL Homo sapiens P46109 31585087
Cross
GAB1 Q13480 Rasa1 Rattus norvegicus P50904 31585087
Cross: Cross-species interaction Intra: Intraspecies interaction

GAB1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80818 Phospho-GAB1 (Tyr627) Antibody WB, IHC-P, IHC-F, ICC/IF, ELISA Human, Mouse, Rat
HY-P84543 GAB1 Antibody (YA4240) WB, IHC-P, FC, ELISA Human
HY-P84543A GAB1 Antibody (YA4240)(PBS only) WB, IHC-P, FC, ELISA Human

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 26
  • DFNB26

  • Autosomal Recessive Nonsyndromic Deafness 26

  • Autosomal Recessive Deafness 26

  • Deafness, Autosomal Recessive, 26

Olfactory Groove Meningioma
  • Meningioma Of The Olfactory Groove

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Childhood Hepatocellular Carcinoma
  • Pediatric Hepatocellular Carcinoma

  • Childhood Carcinoma Of Liver Cell

  • Childhood Hepatoma

  • Childhood Liver Cell Carcinoma

  • Pediatric Carcinoma Of Liver Cell

  • Pediatric Hepatoma

  • Pediatric Liver Cell Carcinoma

  • Childhood-Onset Hcc

  • Childhood-Onset Hepatocellular Carcinoma

  • Pediatric Hcc

  • Childhood Liver Cancer

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GAB1 MGD MGI:108088
Bos taurus GAB1 VGNC VGNC:29183
Felis catus GAB1 VGNC VGNC:62412
Canis familiaris GAB1 VGNC VGNC:41045
Rattus norvegicus GAB1 RGD RGD:1311085
Macaca mulatta GAB1 VGNC VGNC:72842
Others GAB1 NCBI