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

    Gene ID: 2549, updated on 3-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GAB1 in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (143336876..143474565)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (146654097..146791778)
    RS_2024_09 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 SNF2 related chromatin remodeling ATPase 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
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    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_002039.4NP_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
      A8K152, Q13480, Q4W5G2, Q6P1W2
      UniProtKB/TrEMBL
      D6RIS0
      Related
      ENSP00000262994.4, ENST00000262994.9
      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/TrEMBL
      D6RIS0
      Related
      ENSP00000262995.4, ENST00000262995.9
      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: GCF_000001405.40-RS_2024_08

    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_047449969.1XP_047305925.1  GRB2-associated-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RIS0
    2. XM_017007969.2XP_016863458.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
      Conserved Domains (1) summary
      cl17171
      Location:122
      PH-like; Pleckstrin homology-like domain
    3. XM_017007970.2XP_016863459.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
      Conserved Domains (1) summary
      cl17171
      Location:122
      PH-like; Pleckstrin homology-like domain
    4. XM_017007966.2XP_016863455.1  GRB2-associated-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RIS0
    5. XM_006714168.5XP_006714231.1  GRB2-associated-binding protein 1 isoform X5

      See identical proteins and their annotated locations for XP_006714231.1

      UniProtKB/TrEMBL
      D6RIS0
      Conserved Domains (1) summary
      cl17171
      Location:122
      PH-like; Pleckstrin homology-like domain
    6. XM_047449973.1XP_047305929.1  GRB2-associated-binding protein 1 isoform X7

      UniProtKB/TrEMBL
      D6RIS0
    7. XM_047449972.1XP_047305928.1  GRB2-associated-binding protein 1 isoform X6

      UniProtKB/TrEMBL
      D6RIS0
    8. XM_047449974.1XP_047305930.1  GRB2-associated-binding protein 1 isoform X8

      UniProtKB/TrEMBL
      B7Z3B9, D6RIS0
      Related
      ENSP00000424554.1, ENST00000505913.5
    9. XM_017007968.2XP_016863457.1  GRB2-associated-binding protein 1 isoform X3

      UniProtKB/TrEMBL
      D6RIS0
    10. XM_047449971.1XP_047305927.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
    11. XM_006714167.5XP_006714230.1  GRB2-associated-binding protein 1 isoform X5

      See identical proteins and their annotated locations for XP_006714230.1

      UniProtKB/TrEMBL
      D6RIS0
      Conserved Domains (1) summary
      cl17171
      Location:122
      PH-like; Pleckstrin homology-like domain
    12. XM_047449968.1XP_047305924.1  GRB2-associated-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RIS0
    13. XM_017007967.2XP_016863456.1  GRB2-associated-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      D6RIS0
    14. XM_047449970.1XP_047305926.1  GRB2-associated-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      D6RIS0

    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_054349523.1XP_054205498.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
    2. XM_054349524.1XP_054205499.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
    3. XM_054349522.1XP_054205497.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
    4. XM_054349527.1XP_054205502.1  GRB2-associated-binding protein 1 isoform X7

      UniProtKB/TrEMBL
      D6RIS0
    5. XM_054349526.1XP_054205501.1  GRB2-associated-binding protein 1 isoform X6

      UniProtKB/TrEMBL
      D6RIS0
    6. XM_054349528.1XP_054205503.1  GRB2-associated-binding protein 1 isoform X8

      UniProtKB/TrEMBL
      B7Z3B9, D6RIS0
    7. XM_054349525.1XP_054205500.1  GRB2-associated-binding protein 1 isoform X5

      UniProtKB/TrEMBL
      D6RIS0
    8. XM_054349516.1XP_054205491.1  GRB2-associated-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RIS0
    9. XM_054349519.1XP_054205494.1  GRB2-associated-binding protein 1 isoform X3

      UniProtKB/TrEMBL
      D6RIS0
    10. XM_054349520.1XP_054205495.1  GRB2-associated-binding protein 1 isoform X9

      UniProtKB/TrEMBL
      D6RIS0
    11. XM_054349517.1XP_054205492.1  GRB2-associated-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      D6RIS0
    12. XM_054349518.1XP_054205493.1  GRB2-associated-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      D6RIS0
    13. XM_054349521.1XP_054205496.1  GRB2-associated-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      D6RIS0