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WASF3 WAS protein family, member 3 [ Homo sapiens (human) ]

Gene ID: 10810, updated on 11-Sep-2014
Official Symbol
WASF3provided by HGNC
Official Full Name
WAS protein family, member 3provided by HGNC
Primary source
HGNC:HGNC:12734
Locus tag
RP11-496O3.2
See related
Ensembl:ENSG00000132970; HPRD:05458; MIM:605068; Vega:OTTHUMG00000016621
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
SCAR3; WAVE3; Brush-1
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
See WASF3 in Epigenomics, MapViewer
Location:
13q12
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (26557703..26688945)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (27131840..27263082)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6 Neighboring gene cyclin-dependent kinase 8 Neighboring gene ribosomal protein S3a pseudogene 44 Neighboring gene G protein-coupled receptor 12 Neighboring gene FGFR1 oncogene partner 2 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
    Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
    Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0900

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin filament polymerization TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 
lamellipodium assembly IEA
Inferred from Electronic Annotation
more info
 
oligodendrocyte development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
wiskott-Aldrich syndrome protein family member 3
Names
wiskott-Aldrich syndrome protein family member 3
protein WAVE-3
WASP family Verprolin-homologous protein 3
verprolin homology domain-containing protein 3

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_001291965.1NP_001278894.1  wiskott-Aldrich syndrome protein family member 3 isoform 2

    See proteins identical to NP_001278894.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks one exon and includes one alternate exon in the central coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct internal segment, compared to isoform 1.
    Source sequence(s)
    AF454702, AL133590, BC050283, BU736040
    Conserved Domains (1) summary
    pfam02205
    Location:434461
    WH2; WH2 motif
  2. NM_006646.5NP_006637.2  wiskott-Aldrich syndrome protein family member 3 isoform 1

    See proteins identical to NP_006637.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB020707, AL133590, BC050283, BU736040
    Consensus CDS
    CCDS9318.1
    UniProtKB/TrEMBL
    Q5T8P4
    UniProtKB/Swiss-Prot
    Q9UPY6
    Related
    ENSP00000335055, OTTHUMP00000018160, ENST00000335327, OTTHUMT00000044258
    Conserved Domains (1) summary
    pfam02205
    Location:437464
    WH2; WH2 motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    26557703..26688945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266239.1XP_005266296.1  

    See proteins identical to XP_005266296.1

    UniProtKB/Swiss-Prot
    Q9UPY6
    Related
    ENSP00000354325, ENST00000361042
    Conserved Domains (1) summary
    pfam02205
    Location:434461
    WH2; WH2 motif

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    7955351..8086464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    27099816..27231081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)