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    ABI3 ABI family member 3 [ Homo sapiens (human) ]

    Gene ID: 51225, updated on 12-Sep-2021

    Summary

    Official Symbol
    ABI3provided by HGNC
    Official Full Name
    ABI family member 3provided by HGNC
    Primary source
    HGNC:HGNC:29859
    See related
    Ensembl:ENSG00000108798 MIM:606363
    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
    NESH; SSH3BP3
    Summary
    This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Broad expression in spleen (RPKM 23.3), lymph node (RPKM 10.1) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABI3 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (49210582..49223225)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47288069..47300587)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Gln (anticodon TTG) 1-1 Neighboring gene G protein subunit gamma transducin 2 Neighboring gene uncharacterized LOC105371816 Neighboring gene phosphoethanolamine/phosphocholine phosphatase 1 Neighboring gene uncharacterized FLJ40194

    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
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    GeneReviews: Not available
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SCAR complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in dendritic shaft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    ABI gene family member 3
    Names
    new molecule including SH3

    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_001135186.2NP_001128658.2  ABI gene family member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC004797, AC069454
      Consensus CDS
      CCDS45725.1
      Related
      ENSP00000406651.2, ENST00000419580.6
      Conserved Domains (2) summary
      cd11826
      Location:306357
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:88150
      Abi_HHR; Abl-interactor HHR
    2. NM_016428.3NP_057512.2  ABI gene family member 3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004797, AC069454
      Consensus CDS
      CCDS11546.1
      Related
      ENSP00000225941.1, ENST00000225941.6
      Conserved Domains (2) summary
      cd11826
      Location:312363
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:93164
      Abi_HHR; Abl-interactor HHR

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      49210582..49223225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257429.2XP_005257486.1  ABI gene family member 3 isoform X3

      Conserved Domains (2) summary
      cd11826
      Location:319370
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:93164
      Abi_HHR; Abl-interactor HHR
    2. XM_011524873.1XP_011523175.1  ABI gene family member 3 isoform X1

      Conserved Domains (2) summary
      cd11826
      Location:318369
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:93164
      Abi_HHR; Abl-interactor HHR
    3. XM_017024721.1XP_016880210.1  ABI gene family member 3 isoform X2

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