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WASF1 WASP family member 1 [ Homo sapiens (human) ]

Gene ID: 8936, updated on 22-Nov-2020

Summary

Official Symbol
WASF1provided by HGNC
Official Full Name
WASP family member 1provided by HGNC
Primary source
HGNC:HGNC:12732
See related
Ensembl:ENSG00000112290 MIM:605035
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
WAVE; SCAR1; WAVE1; NEDALVS
Summary
The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues See more
Orthologs

Genomic context

See WASF1 in Genome Data Viewer
Location:
6q21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (110099819..110179670, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110421022..110501219, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986631 Neighboring gene G protein-coupled receptor 6 Neighboring gene cell division cycle 40 Neighboring gene uncharacterized LOC105377937 Neighboring gene methyltransferase like 24

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31482, KIAA0269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Arp2/3 complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A regulatory subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to small GTPase binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
Rac protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament polymerization TAS
Traceable Author Statement
more info
PubMed 
cellular response to brain-derived neurotrophic factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite extension IEA
Inferred from Electronic Annotation
more info
 
dendritic transport of mitochondrion IEA
Inferred from Electronic Annotation
more info
 
lamellipodium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Arp2/3 complex-mediated actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of Arp2/3 complex-mediated actin nucleation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
SCAR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SCAR complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
wiskott-Aldrich syndrome protein family member 1
Names
WAS protein family member 1
WASP family protein member 1
homology of dictyostelium scar 1
protein WAVE-1
verprolin homology domain-containing protein 1

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_001024934.2NP_001020105.1  wiskott-Aldrich syndrome protein family member 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AI928895, BC044591, BC068546, BG719023, BI461486
    Consensus CDS
    CCDS5080.1
    UniProtKB/Swiss-Prot
    Q92558
    Related
    ENSP00000376367.1, ENST00000392588.5
    Conserved Domains (2) summary
    pfam02205
    Location:494521
    WH2; WH2 motif
    cl25764
    Location:395489
    PAT1; Topoisomerase II-associated protein PAT1
  2. NM_001024935.2NP_001020106.1  wiskott-Aldrich syndrome protein family member 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AI928895, BC044591, BG719023
    Consensus CDS
    CCDS5080.1
    UniProtKB/Swiss-Prot
    Q92558
    Related
    ENSP00000352425.2, ENST00000359451.6
    Conserved Domains (2) summary
    pfam02205
    Location:494521
    WH2; WH2 motif
    cl25764
    Location:395489
    PAT1; Topoisomerase II-associated protein PAT1
  3. NM_001024936.2NP_001020107.1  wiskott-Aldrich syndrome protein family member 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two exons in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.
    Source sequence(s)
    AI928895, BC044591, BC068546, BG719023
    Consensus CDS
    CCDS5080.1
    UniProtKB/Swiss-Prot
    Q92558
    Related
    ENSP00000376366.2, ENST00000392587.6
    Conserved Domains (2) summary
    pfam02205
    Location:494521
    WH2; WH2 motif
    cl25764
    Location:395489
    PAT1; Topoisomerase II-associated protein PAT1
  4. NM_003931.3NP_003922.1  wiskott-Aldrich syndrome protein family member 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AI928895, BG719023, BI461486, D87459
    Consensus CDS
    CCDS5080.1
    UniProtKB/Swiss-Prot
    Q92558
    Related
    ENSP00000376368.1, ENST00000392589.6
    Conserved Domains (2) summary
    pfam02205
    Location:494521
    WH2; WH2 motif
    cl25764
    Location:395489
    PAT1; Topoisomerase II-associated protein PAT1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    110099819..110179670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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