U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GAB1 GRB2 associated binding protein 1 [ Homo sapiens (human) ]

Gene ID: 2549, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
GAB1provided by HGNC
Official Full Name
GRB2 associated binding protein 1provided by HGNC
Primary source
HGNC:HGNC:4066
See related
Ensembl:ENSG00000109458 MIM:604439; AllianceGenome:HGNC:4066
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB26
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]
Expression
Ubiquitous expression in brain (RPKM 3.3), lung (RPKM 3.0) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
4q31.21
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (143336876..143474565)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (146654097..146791778)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (144258029..144395718)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene USP38 divergent transcript Neighboring gene LysM domain containing 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:143992683-143993182 Neighboring gene Sharpr-MPRA regulatory region 2118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:144105120-144106005 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:144106006-144106890 Neighboring gene NANOG hESC enhancer GRCh37_chr4:144169634-144170135 Neighboring gene ubiquitin specific peptidase 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21941 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:144257238-144257405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15719 Neighboring gene uncharacterized LOC124900789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:144257955-144258768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21942 Neighboring gene microRNA 3139 Neighboring gene ribosomal protein S2 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21945 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:144358834-144360033 Neighboring gene ribosomal protein SA pseudogene 36 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21946 Neighboring gene SMARCA5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21954 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Neighboring gene GUSB pseudogene 5

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. GAB1 as a Marker of Recurrence in Anterior Skull Base Meningioma. Boetto J, et al. Neurosurgery, 2023 Feb 1. PMID 36637273
  2. Circ_0057452 sponges miR-7-5p to promote keloid progression through upregulating GAB1. Zhu M, et al. Cell Cycle, 2022 Dec. PMID 35876480, Free PMC Article
  3. Macromolecular Crowding Induces a Binding Competent Transient Structure in Intrinsically Disordered Gab1. Gruber T, et al. J Mol Biol, 2022 Mar 15. PMID 34929201
  4. Association of Single-Nucleotide Polymorphisms of Gab1 Gene with Susceptibility to Meningioma in a Northern Chinese Han Population. Chen W, et al. Med Sci Monit, 2021 Nov 4. PMID 34732686, Free PMC Article
  5. Grb2-associated binding protein-1 as a biomarker in bone and soft tissue sarcomas. Al-Husseinawi E, et al. Pathology, 2019 Oct. PMID 31443923

See all (211) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of GAB1 gene with asthma susceptibility and the efficacy of inhaled corticosteroids in children.
    Title: Association of GAB1 gene with asthma susceptibility and the efficacy of inhaled corticosteroids in children.
  2. GAB1 as a Marker of Recurrence in Anterior Skull Base Meningioma.
    Title: GAB1 as a Marker of Recurrence in Anterior Skull Base Meningioma.
  3. Circ_0057452 sponges miR-7-5p to promote keloid progression through upregulating GAB1.
    Title: Circ_0057452 sponges miR-7-5p to promote keloid progression through upregulating GAB1.
  4. Molecular profile reveals immune-associated markers of medulloblastoma for different subtypes.
    Title: Molecular profile reveals immune-associated markers of medulloblastoma for different subtypes.
  5. Interference of PTK6/GAB1 signaling inhibits cell proliferation, invasion, and migration of cervical cancer cells.
    Title: Interference of PTK6/GAB1 signaling inhibits cell proliferation, invasion, and migration of cervical cancer cells.
  6. Circ_0060531 knockdown ameliorates IL-22-induced keratinocyte damage by binding to miR-330-5p to decrease GAB1 expression.
    Title: Circ_0060531 knockdown ameliorates IL-22-induced keratinocyte damage by binding to miR-330-5p to decrease GAB1 expression.
  7. Macromolecular Crowding Induces a Binding Competent Transient Structure in Intrinsically Disordered Gab1.
    Title: Macromolecular Crowding Induces a Binding Competent Transient Structure in Intrinsically Disordered Gab1.
  8. Association of Single-Nucleotide Polymorphisms of Gab1 Gene with Susceptibility to Meningioma in a Northern Chinese Han Population.
    Title: Association of Single-Nucleotide Polymorphisms of Gab1 Gene with Susceptibility to Meningioma in a Northern Chinese Han Population.
  9. Circ_0061012 contributes to IL-22-induced proliferation, migration and invasion in keratinocytes through miR-194-5p/GAB1 axis in psoriasis.
    Title: Circ_0061012 contributes to IL-22-induced proliferation, migration and invasion in keratinocytes through miR-194-5p/GAB1 axis in psoriasis.
  10. FoxO1-GAB1 axis regulates homing capacity and tonic AKT activity in chronic lymphocytic leukemia.
    Title: FoxO1-GAB1 axis regulates homing capacity and tonic AKT activity in chronic lymphocytic leukemia.
Submit: New GeneRIF Correction See all GeneRIFs (95)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 26
MedGen: C1854275 OMIM: 605428 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

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
  
Process Evidence Code Pubs
involved_in angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endothelial cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of blood vessel endothelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to hepatocyte growth factor IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vascular endothelial growth factor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell-cell junction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
GRB2-associated-binding protein 1
Names
GRB2-associated binder 1
deafness, autosomal recessive 26
growth factor receptor bound protein 2-associated protein 1
symbol withdrawn, see GAB1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_002039.4 → NP_002030.2  GRB2-associated-binding protein 1 isoform b

    See identical proteins and their annotated locations for NP_002030.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (b) with the same N- and C-termini, but missing a 30 aa protein segment compared to isoform a.
    Source sequence(s)
    AC104685, AK022142, AK289767, AL049449, BC030115, DA109618, DA249555
    Consensus CDS
    CCDS3759.1
    UniProtKB/Swiss-Prot
    A8K152, Q13480, Q4W5G2, Q6P1W2
    Related
    ENSP00000262994.4, ENST00000262994.9
    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_207123.3 → NP_997006.1  GRB2-associated-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_997006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC104685, AK022142, AL049449, BC030115, BC064848, DA109618, DA249555
    Consensus CDS
    CCDS3760.1
    UniProtKB/Swiss-Prot
    Q13480
    UniProtKB/TrEMBL
    Q9HA84
    Related
    ENSP00000262995.4, ENST00000262995.9
    Conserved Domains (1) summary
    cd01266
    Location:3 → 125
    PH_Gab1_Gab2; Grb2-associated binding proteins 1 and 2 pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    143336876..143474565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449969.1 → XP_047305925.1  GRB2-associated-binding protein 1 isoform X1

  2. XM_017007969.2 → XP_016863458.1  GRB2-associated-binding protein 1 isoform X5

    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain

  3. XM_017007970.2 → XP_016863459.1  GRB2-associated-binding protein 1 isoform X5

    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain

  4. XM_017007966.2 → XP_016863455.1  GRB2-associated-binding protein 1 isoform X1

  5. XM_006714168.5 → XP_006714231.1  GRB2-associated-binding protein 1 isoform X5

    See identical proteins and their annotated locations for XP_006714231.1

    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain

  6. XM_047449973.1 → XP_047305929.1  GRB2-associated-binding protein 1 isoform X7

  7. XM_047449972.1 → XP_047305928.1  GRB2-associated-binding protein 1 isoform X6

  8. XM_047449974.1 → XP_047305930.1  GRB2-associated-binding protein 1 isoform X8

    UniProtKB/TrEMBL
    B7Z3B9
    Related
    ENSP00000424554.1, ENST00000505913.5

  9. XM_017007968.2 → XP_016863457.1  GRB2-associated-binding protein 1 isoform X3

  10. XM_047449971.1 → XP_047305927.1  GRB2-associated-binding protein 1 isoform X5

  11. XM_006714167.5 → XP_006714230.1  GRB2-associated-binding protein 1 isoform X5

    See identical proteins and their annotated locations for XP_006714230.1

    Conserved Domains (1) summary
    cl17171
    Location:1 → 22
    PH-like; Pleckstrin homology-like domain

  12. XM_047449968.1 → XP_047305924.1  GRB2-associated-binding protein 1 isoform X1

  13. XM_017007967.2 → XP_016863456.1  GRB2-associated-binding protein 1 isoform X2

  14. XM_047449970.1 → XP_047305926.1  GRB2-associated-binding protein 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    146654097..146791778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349523.1 → XP_054205498.1  GRB2-associated-binding protein 1 isoform X5

  2. XM_054349524.1 → XP_054205499.1  GRB2-associated-binding protein 1 isoform X5

  3. XM_054349522.1 → XP_054205497.1  GRB2-associated-binding protein 1 isoform X5

  4. XM_054349527.1 → XP_054205502.1  GRB2-associated-binding protein 1 isoform X7

  5. XM_054349526.1 → XP_054205501.1  GRB2-associated-binding protein 1 isoform X6

  6. XM_054349528.1 → XP_054205503.1  GRB2-associated-binding protein 1 isoform X8

    UniProtKB/TrEMBL
    B7Z3B9

  7. XM_054349525.1 → XP_054205500.1  GRB2-associated-binding protein 1 isoform X5

  8. XM_054349516.1 → XP_054205491.1  GRB2-associated-binding protein 1 isoform X1

  9. XM_054349519.1 → XP_054205494.1  GRB2-associated-binding protein 1 isoform X3

  10. XM_054349520.1 → XP_054205495.1  GRB2-associated-binding protein 1 isoform X9

  11. XM_054349517.1 → XP_054205492.1  GRB2-associated-binding protein 1 isoform X1

  12. XM_054349518.1 → XP_054205493.1  GRB2-associated-binding protein 1 isoform X2

  13. XM_054349521.1 → XP_054205496.1  GRB2-associated-binding protein 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13480.2 GenPept UniProtKB/Swiss-Prot:Q13480

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous