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

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

    Summary

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    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
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 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

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    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)

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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_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

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