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

    Gene ID: 51225, updated on 4-Jan-2025

    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; AllianceGenome:HGNC:29859
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (49210707..49223225)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (50073790..50086309)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47288069..47300587)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12351 Neighboring gene tRNA-Gln (anticodon TTG) 1-1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47275189-47275688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47287312-47287988 Neighboring gene G protein subunit gamma transducin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47300636-47301544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47301545-47302452 Neighboring gene phosphoethanolamine/phosphocholine phosphatase 1 Neighboring gene uncharacterized LOC124904022

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (9 hits/1244 screens)

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding  
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    enables signaling adaptor activity  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization  
    involved_in cell projection morphogenesis  
    involved_in defense response to tumor cell PubMed 
    involved_in modification of postsynaptic actin cytoskeleton  
    involved_in negative regulation of lamellipodium assembly  
    involved_in negative regulation of protein localization to plasma membrane  
    involved_in negative regulation of ruffle assembly PubMed 
    involved_in neuron migration  
    NOT acts_upstream_of_or_within peptidyl-tyrosine phosphorylation PubMed 
    involved_in positive regulation of cellular senescence PubMed 
    involved_in regulation of cell migration  
    acts_upstream_of_or_within regulation of cell migration PubMed 
    involved_in regulation of dendritic spine morphogenesis  
    involved_in regulation of postsynaptic density assembly  
    Component Evidence Code Pubs
    part_of SCAR complex  
    part_of SCAR complex PubMed 
    is_active_in actin-based cell projection  
    located_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in dendritic shaft  
    located_in dendritic spine  
    located_in glutamatergic synapse  
    is_active_in lamellipodium  
    located_in lamellipodium PubMed 
    located_in membrane PubMed 
    located_in postsynaptic density  

    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_001135186.2 → NP_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:306 → 357
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:88 → 150
      Abi_HHR; Abl-interactor HHR
    2. NM_016428.3 → NP_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
      UniProtKB/Swiss-Prot
      C9IZN8, Q9H0P6, Q9P2A4
      Related
      ENSP00000225941.1, ENST00000225941.6
      Conserved Domains (2) summary
      cd11826
      Location:312 → 363
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:93 → 164
      Abi_HHR; Abl-interactor HHR

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      49210707..49223225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257429.3 → XP_005257486.1  ABI gene family member 3 isoform X1

      Conserved Domains (2) summary
      cd11826
      Location:319 → 370
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:93 → 164
      Abi_HHR; Abl-interactor HHR
    2. XM_011524873.2 → XP_011523175.1  ABI gene family member 3 isoform X2

      Conserved Domains (2) summary
      cd11826
      Location:318 → 369
      SH3_Abi; Src homology 3 domain of Abl Interactor proteins
      pfam07815
      Location:93 → 164
      Abi_HHR; Abl-interactor HHR
    3. XM_017024721.2 → XP_016880210.1  ABI gene family member 3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50073790..50086309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316359.1 → XP_054172334.1  ABI gene family member 3 isoform X1

    2. XM_054316360.1 → XP_054172335.1  ABI gene family member 3 isoform X2

    3. XM_054316361.1 → XP_054172336.1  ABI gene family member 3 isoform X3

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