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

Gene ID: 2549, updated on 1-Jun-2020

Summary

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
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

Genomic context

See GAB1 in Genome Data Viewer
Location:
4q31.21
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (143336876..143474565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (144257680..144395718)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377623 Neighboring gene ubiquitin specific peptidase 38 Neighboring gene microRNA 3139 Neighboring gene ribosomal protein S2 pseudogene 20 Neighboring gene ribosomal protein SA pseudogene 36 Neighboring gene SMARCA5 antisense RNA 1 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal recessive 26
MedGen: C1854275 OMIM: 605428 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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)

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_002039.4NP_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
    Q13480
    UniProtKB/TrEMBL
    Q9HA84
    Related
    ENSP00000262994.4, ENST00000262994.8
    Conserved Domains (2) summary
    cd01266
    Location:3125
    PH_Gab1_Gab2; Grb2-associated binding proteins 1 and 2 pleckstrin homology (PH) domain
    pfam00169
    Location:6115
    PH; PH domain
  2. NM_207123.3NP_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, ENST00000262995.8
    Conserved Domains (1) summary
    cd01266
    Location:3125
    PH_Gab1_Gab2; Grb2-associated binding proteins 1 and 2 pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017007969.1XP_016863458.1  GRB2-associated-binding protein 1 isoform X4

    Conserved Domains (1) summary
    cl17171
    Location:122
    PH-like; Pleckstrin homology-like domain
  2. XM_017007970.1XP_016863459.1  GRB2-associated-binding protein 1 isoform X4

    Conserved Domains (1) summary
    cl17171
    Location:122
    PH-like; Pleckstrin homology-like domain
  3. XM_017007971.1XP_016863460.1  GRB2-associated-binding protein 1 isoform X5

    Related
    ENSP00000424554.1, ENST00000505913.5
  4. XM_006714168.4XP_006714231.1  GRB2-associated-binding protein 1 isoform X4

    See identical proteins and their annotated locations for XP_006714231.1

    Conserved Domains (1) summary
    cl17171
    Location:122
    PH-like; Pleckstrin homology-like domain
  5. XM_006714167.4XP_006714230.1  GRB2-associated-binding protein 1 isoform X4

    See identical proteins and their annotated locations for XP_006714230.1

    Conserved Domains (1) summary
    cl17171
    Location:122
    PH-like; Pleckstrin homology-like domain
  6. XM_017007966.1XP_016863455.1  GRB2-associated-binding protein 1 isoform X1

  7. XM_017007968.1XP_016863457.1  GRB2-associated-binding protein 1 isoform X3

  8. XM_017007967.1XP_016863456.1  GRB2-associated-binding protein 1 isoform X2

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