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Gab1 growth factor receptor bound protein 2-associated protein 1 [ Mus musculus (house mouse) ]

Gene ID: 14388, updated on 2-Nov-2024

Summary

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Official Symbol
Gab1provided by MGI
Official Full Name
growth factor receptor bound protein 2-associated protein 1provided by MGI
Primary source
MGI:MGI:108088
See related
Ensembl:ENSMUSG00000031714 AllianceGenome:MGI:108088
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables signaling adaptor activity. Involved in epidermal growth factor receptor signaling pathway; positive regulation of blood vessel endothelial cell migration; and vascular endothelial growth factor signaling pathway. Acts upstream of or within several processes, including cell surface receptor signaling pathway; labyrinthine layer development; and positive regulation of MAP kinase activity. Located in cytoplasm. Is active in cell cortex. Is expressed in several structures, including brain; gonad; gut; hemolymphoid system gland; and inner ear. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 26. Orthologous to human GAB1 (GRB2 associated binding protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in placenta adult (RPKM 12.3), lung adult (RPKM 10.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Gab1 in Genome Data Viewer
Location:
8 C2; 8 38.47 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (81491060..81607151, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (80764431..80880519, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene Fras1 related extracellular matrix protein 3 Neighboring gene STARR-seq mESC enhancer starr_22039 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Neighboring gene STARR-seq mESC enhancer starr_22040 Neighboring gene STARR-positive B cell enhancer ABC_E8847 Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene, 51580 Neighboring gene STARR-seq mESC enhancer starr_22044 Neighboring gene STARR-seq mESC enhancer starr_22045 Neighboring gene STARR-seq mESC enhancer starr_22049 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 31223

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Gab1 in livers with persistent hepatocyte apoptosis has an antiapoptotic effect and reduces chronic liver injury, fibrosis, and tumorigenesis. Mizutani N, et al. Am J Physiol Gastrointest Liver Physiol, 2021 Jun 1. PMID 33787344
  2. Role of Gab1 in UV-induced c-Jun NH2-terminal kinase activation and cell apoptosis. Sun Y, et al. Mol Cell Biol, 2004 Feb. PMID 14749370, Free PMC Article
  3. LIF-dependent survival of embryonic stem cells is regulated by a novel palmitoylated Gab1 signalling protein. Sutherland L, et al. J Cell Sci, 2018 Sep 20. PMID 30154213, Free PMC Article
  4. Grb2-associated binder-1 is required for extrafusal and intrafusal muscle fiber development. Park SY, et al. Neuroreport, 2017 Jul 5. PMID 28542067
  5. Epithelial disruption of Gab1 perturbs surfactant homeostasis and predisposes mice to lung injuries. Wang K, et al. Am J Physiol Lung Cell Mol Physiol, 2016 Dec 1. PMID 27793798

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activated Gab1 drives hepatocyte proliferation and anti-apoptosis in liver fibrosis via potential involvement of the HGF/c-Met signaling axis.
    Title: Activated Gab1 drives hepatocyte proliferation and anti-apoptosis in liver fibrosis via potential involvement of the HGF/c-Met signaling axis.
  2. Gab1 Overexpression Attenuates Susceptibility to Ventricular Arrhythmias in Pressure Overloaded Heart Failure Mouse Hearts.
    Title: Gab1 Overexpression Attenuates Susceptibility to Ventricular Arrhythmias in Pressure Overloaded Heart Failure Mouse Hearts.
  3. Epithelial Gab1 calibrates RIPK3-dependent necroptosis to prevent intestinal inflammation.
    Title: Epithelial Gab1 calibrates RIPK3-dependent necroptosis to prevent intestinal inflammation.
  4. Gab1 Overexpression Alleviates Doxorubicin-Induced Cardiac Oxidative Stress, Inflammation, and Apoptosis Through PI3K/Akt Signaling Pathway.
    Title: Gab1 Overexpression Alleviates Doxorubicin-Induced Cardiac Oxidative Stress, Inflammation, and Apoptosis Through PI3K/Akt Signaling Pathway.
  5. GAB1 is upregulated to promote anaplastic thyroid cancer cell migration through AKT-MDR1.
    Title: GAB1 is upregulated to promote anaplastic thyroid cancer cell migration through AKT-MDR1.
  6. GAB1 alleviates septic lung injury by inhibiting the TLR4/ NF-kappaB pathway.
    Title: GAB1 alleviates septic lung injury by inhibiting the TLR4/ NF-κB pathway.
  7. Gab1 in livers with persistent hepatocyte apoptosis has an antiapoptotic effect and reduces chronic liver injury, fibrosis, and tumorigenesis.
    Title: Gab1 in livers with persistent hepatocyte apoptosis has an antiapoptotic effect and reduces chronic liver injury, fibrosis, and tumorigenesis.
  8. S100a8 silencing attenuates inflammation, oxidative stress and apoptosis in BV2 cells induced by oxygenglucose deprivation and reoxygenation by upregulating GAB1 expression.
    Title: S100a8 silencing attenuates inflammation, oxidative stress and apoptosis in BV2 cells induced by oxygen‑glucose deprivation and reoxygenation by upregulating GAB1 expression.
  9. Increased expression of GAB1 promotes inflammation and fibrosis in systemic sclerosis.
    Title: Increased expression of GAB1 promotes inflammation and fibrosis in systemic sclerosis.
  10. Gab1 mediates PDGF signaling and is essential to oligodendrocyte differentiation and CNS myelination.
    Title: Gab1 mediates PDGF signaling and is essential to oligodendrocyte differentiation and CNS myelination.
Submit: New GeneRIF Correction See all GeneRIFs (51)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (10)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables signaling adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables signaling adaptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in angiogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to vascular endothelial growth factor stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in endothelial cell chemotaxis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epidermis development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within interleukin-6-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within labyrinthine layer development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within platelet-derived growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of MAP kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of angiogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of blood vessel endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of cell migration IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in response to hepatocyte growth factor ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to oxidative stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vascular endothelial growth factor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vascular endothelial growth factor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cell cortex IGI
Inferred from Genetic Interaction
more info
 PubMed 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
GRB2-associated-binding protein 1
Names
GRB2-associated binder 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001301298.2 → NP_001288227.1  GRB2-associated-binding protein 1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)
    Source sequence(s)
    AC116800, AC132606
    Consensus CDS
    CCDS85569.1
    UniProtKB/TrEMBL
    A0A1B0GS41, A0AAQ4VMS5
    Related
    ENSMUSP00000147784.2, ENSMUST00000210676.2
    Conserved Domains (2) summary
    cd01266
    Location:3 → 125
    PH_Gab1_Gab2; Grb2-associated binding proteins 1 and 2 pleckstrin homology (PH) domain
    pfam00169
    Location:6 → 115
    PH; PH domain

  2. NM_001424818.1 → NP_001411747.1  GRB2-associated-binding protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC116800, AC132606

  3. NM_001424819.1 → NP_001411748.1  GRB2-associated-binding protein 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC116800, AC132606

  4. NM_001424820.1 → NP_001411749.1  GRB2-associated-binding protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC116800, AC132606
    UniProtKB/TrEMBL
    A0AAQ4VMS8

  5. NM_001424821.1 → NP_001411750.1  GRB2-associated-binding protein 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC116800, AC132606
    UniProtKB/TrEMBL
    A0AAQ4VMS8
    Related
    ENSMUSP00000159976.1, ENSMUST00000249879.1

  6. NM_021356.3 → NP_067331.2  GRB2-associated-binding protein 1 isoform 2

    See identical proteins and their annotated locations for NP_067331.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than variant 1.
    Source sequence(s)
    AC116800, AC132606
    Consensus CDS
    CCDS22443.1
    UniProtKB/Swiss-Prot
    Q91VW7, Q9QYY0
    UniProtKB/TrEMBL
    A0AAQ4VMS5, Q505A4
    Related
    ENSMUSP00000034150.9, ENSMUST00000034150.10
    Conserved Domains (2) summary
    cd01266
    Location:3 → 125
    PH_Gab1_Gab2; Grb2-associated binding proteins 1 and 2 pleckstrin homology (PH) domain
    pfam00169
    Location:6 → 115
    PH; PH domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    81491060..81607151 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006530677.4 → XP_006530740.1  GRB2-associated-binding protein 1 isoform X2

    UniProtKB/TrEMBL
    A0AAQ4VMS5

  2. XM_017312576.3 → XP_017168065.1  GRB2-associated-binding protein 1 isoform X1

    UniProtKB/TrEMBL
    A0AAQ4VMS5, A0AAQ4VMS8
    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain

  3. XM_011248309.3 → XP_011246611.1  GRB2-associated-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011246611.1

    UniProtKB/TrEMBL
    A0AAQ4VMS5, A0AAQ4VMS8
    Related
    ENSMUSP00000159977.1, ENSMUST00000249880.1
    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain

  4. XM_011248310.4 → XP_011246612.1  GRB2-associated-binding protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011246612.1

    UniProtKB/TrEMBL
    A0AAQ4VMS5, A0AAQ4VMS8
    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9QYY0.2 GenPept UniProtKB/Swiss-Prot:Q9QYY0

Gene LinkOut

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