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

Summary

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, Dec 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

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Epithelial Gab1 calibrates RIPK3-dependent necroptosis to prevent intestinal inflammation.
Title: Epithelial Gab1 calibrates RIPK3-dependent necroptosis to prevent intestinal inflammation.
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.
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.
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.
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.
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.
Increased expression of GAB1 promotes inflammation and fibrosis in systemic sclerosis.
Title: Increased expression of GAB1 promotes inflammation and fibrosis in systemic sclerosis.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124801 (e-PCR)
- UniSTS:161623

UniSTS:235942 (e-PCR)
- UniSTS:235942

AW107238 (e-PCR)
- UniSTS:165590

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)

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

Status: VALIDATED

Source sequence(s)

AC116800, AC132606

UniProtKB/TrEMBL

A0AAQ4VMS5
NM_001424819.1 → NP_001411748.1 GRB2-associated-binding protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC116800, AC132606

UniProtKB/TrEMBL

A0AAQ4VMS5
NM_001424820.1 → NP_001411749.1 GRB2-associated-binding protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC116800, AC132606

UniProtKB/TrEMBL

A0AAQ4VMS5, A0AAQ4VMS8
NM_001424821.1 → NP_001411750.1 GRB2-associated-binding protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC116800, AC132606

UniProtKB/TrEMBL

A0AAQ4VMS5, A0AAQ4VMS8

Related

ENSMUSP00000159976.1, ENSMUST00000249879.1
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