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WASF3 WASP family member 3 [ Homo sapiens (human) ]

Gene ID: 10810, updated on 11-Sep-2019

Summary

Official Symbol
WASF3provided by HGNC
Official Full Name
WASP family member 3provided by HGNC
Primary source
HGNC:HGNC:12734
See related
Ensembl:ENSG00000132970 MIM:605068
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]
Expression
Broad expression in brain (RPKM 34.0), fat (RPKM 12.7) and 15 other tissues See more
Orthologs

Genomic context

See WASF3 in Genome Data Viewer
Location:
13q12.13
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (26539139..26688948)
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 THAP domain containing 12 pseudogene 6 Neighboring gene cyclin dependent kinase 8 Neighboring gene ribosomal protein S3a pseudogene 44 Neighboring gene uncharacterized LOC107984597 Neighboring gene G protein-coupled receptor 12 Neighboring gene FGFR1 oncogene partner 2 pseudogene 1

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1-mediated effects on podosomes and migration involve Nef-HCK interaction, and HCK-mediated phosphorylation of WASP at podosomes PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • 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....
  • Choline metabolism in cancer, organism-specific biosystem (from KEGG)
    Choline metabolism in cancer, organism-specific biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
  • Choline metabolism in cancer, conserved biosystem (from KEGG)
    Choline metabolism in cancer, conserved biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
  • 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
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate WASPs and WAVEs, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate WASPs and WAVEs, organism-specific biosystemWASP and WAVE proteins belong to the Wiskott-Aldrich Syndrome protein family, with recessive mutations in the founding member WASP being responsible for the X-linked recessive immunodeficieny known a...
  • 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 Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
lamellipodium assembly IEA
Inferred from Electronic Annotation
more info
 
modification of postsynaptic actin cytoskeleton 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-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
wiskott-Aldrich syndrome protein family member 3
Names
WAS protein family member 3
WASP family Verprolin-homologous protein 3
protein WAVE-3
verprolin homology domain-containing protein 3

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

    See identical proteins and their annotated locations for 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
    Consensus CDS
    CCDS76626.1
    UniProtKB/Swiss-Prot
    Q9UPY6
    Related
    ENSP00000354325.4, ENST00000361042.8
    Conserved Domains (1) summary
    pfam02205
    Location:434461
    WH2; WH2 motif
  2. NM_006646.6NP_006637.2  wiskott-Aldrich syndrome protein family member 3 isoform 1

    See identical proteins and their annotated locations for 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, AL159978, AL353789, BC050283, BU736040
    Consensus CDS
    CCDS9318.1
    UniProtKB/Swiss-Prot
    Q9UPY6
    UniProtKB/TrEMBL
    Q5T8P4
    Related
    ENSP00000335055.5, ENST00000335327.5
    Conserved Domains (1) summary
    pfam02205
    Location:437464
    WH2; WH2 motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    26539139..26688948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449315.1XP_024305083.1  wiskott-Aldrich syndrome protein family member 3 isoform X1

    Conserved Domains (1) summary
    pfam02205
    Location:437464
    WH2; WH2 motif
  2. XM_011534889.2XP_011533191.1  wiskott-Aldrich syndrome protein family member 3 isoform X1

    See identical proteins and their annotated locations for XP_011533191.1

    UniProtKB/Swiss-Prot
    Q9UPY6
    UniProtKB/TrEMBL
    Q5T8P4
    Conserved Domains (1) summary
    pfam02205
    Location:437464
    WH2; WH2 motif
  3. XM_011534890.1XP_011533192.1  wiskott-Aldrich syndrome protein family member 3 isoform X1

    See identical proteins and their annotated locations for XP_011533192.1

    UniProtKB/Swiss-Prot
    Q9UPY6
    UniProtKB/TrEMBL
    Q5T8P4
    Conserved Domains (1) summary
    pfam02205
    Location:437464
    WH2; WH2 motif
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