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

Gene ID: 51225, updated on 21-Dec-2019

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

Genomic context

See ABI3 in Genome Data Viewer
Location:
17q21.32
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (49210227..49223225)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47287589..47300587)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene beta-1,4-N-acetyl-galactosaminyltransferase 2 Neighboring gene ribosomal protein S10 pseudogene 25 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

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

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_001135186.1NP_001128658.1  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)
    AA808681, AB037886, BI768790
    Consensus CDS
    CCDS45725.1
    UniProtKB/Swiss-Prot
    Q9P2A4
    Related
    ENSP00000406651.2, ENST00000419580.6
    Conserved Domains (2) summary
    cd11826
    Location:306357
    SH3_Abi; Src homology 3 domain of Abl Interactor proteins
    pfam07815
    Location:88158
    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 109.20191205

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
    49210227..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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