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WASL WASP like actin nucleation promoting factor [ Homo sapiens (human) ]

Gene ID: 8976, updated on 7-Apr-2024

Summary

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Official Symbol
WASLprovided by HGNC
Official Full Name
WASP like actin nucleation promoting factorprovided by HGNC
Primary source
HGNC:HGNC:12735
See related
Ensembl:ENSG00000106299 MIM:605056; AllianceGenome:HGNC:12735
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
NWASP; WASPB; N-WASP
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in colon (RPKM 25.7), thyroid (RPKM 23.4) and 25 other tissues See more
Orthologs
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Genomic context

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See WASL in Genome Data Viewer
Location:
7q31.32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (123681943..123749003, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (124998697..125065742, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (123321997..123389057, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene ASB15 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:123269048-123269605 Neighboring gene leiomodin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:123332146-123332646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:123332647-123333147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:123388787-123389441 Neighboring gene WASL divergent transcript Neighboring gene hyaluronidase 4 Neighboring gene RNA, U6 small nuclear 11, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease. Kumar S, et al. Parkinsonism Relat Disord, 2021 Mar. PMID 33571872
  2. Chlamydia trachomatis TmeA Directly Activates N-WASP To Promote Actin Polymerization and Functions Synergistically with TarP during Invasion. Keb G, et al. mBio, 2021 Jan 19. PMID 33468693, Free PMC Article
  3. The Chlamydia trachomatis secreted effector TmeA hijacks the N-WASP-ARP2/3 actin remodeling axis to facilitate cellular invasion. Faris R, et al. PLoS Pathog, 2020 Sep. PMID 32946535, Free PMC Article
  4. VCA nanobodies target N-WASp to reduce invadopodium formation and functioning. Hebbrecht T, et al. PLoS One, 2017. PMID 28938008, Free PMC Article
  5. Role of N-WASP in Endothelial Monolayer Formation and Integrity. Mooren OL, et al. J Biol Chem, 2015 Jul 24. PMID 26070569, Free PMC Article

See all (173) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2.
    Title: Neural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2.
  2. Polo-like kinase 1 promotes Cdc42-induced actin polymerization for asymmetric division in oocytes.
    Title: Polo-like kinase 1 promotes Cdc42-induced actin polymerization for asymmetric division in oocytes.
  3. nWASP Inhibition Increases Wound Healing via TrKb/PLCgamma Signalling.
    Title: nWASP Inhibition Increases Wound Healing via TrKb/PLCγ Signalling.
  4. Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease.
    Title: Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease.
  5. FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
    Title: FCHSD2 cooperates with CDC42 and N-WASP to regulate cell protrusion formation.
  6. Chlamydia trachomatis TmeA Directly Activates N-WASP To Promote Actin Polymerization and Functions Synergistically with TarP during Invasion.
    Title: Chlamydia trachomatis TmeA Directly Activates N-WASP To Promote Actin Polymerization and Functions Synergistically with TarP during Invasion.
  7. Loss of Wasl improves pancreatic cancer outcome.
    Title: Loss of Wasl improves pancreatic cancer outcome.
  8. TRPV4 activates the Cdc42/N-wasp pathway to promote glioblastoma invasion by altering cellular protrusions.
    Title: TRPV4 activates the Cdc42/N-wasp pathway to promote glioblastoma invasion by altering cellular protrusions.
  9. The Chlamydia trachomatis secreted effector TmeA hijacks the N-WASP-ARP2/3 actin remodeling axis to facilitate cellular invasion.
    Title: The Chlamydia trachomatis secreted effector TmeA hijacks the N-WASP-ARP2/3 actin remodeling axis to facilitate cellular invasion.
  10. Together, these data support a model wherein TNK2, WASL, and NCK1 comprise a pathway important for the entry of multiple picornaviruses.
    Title: Entry by multiple picornaviruses is dependent on a pathway that includes TNK2, WASL, and NCK1.
Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef inhibits the concomitant activation of the actin organizer N-Wasp by interfering with the translocation of N-Wasp to the cell periphery and blocks morphological changes induced by the known N-Wasp regulators Rac1 and Cdc42 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC48327, DKFZp779G0847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase regulator activity TAS
Traceable Author Statement
more info
 PubMed 
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament polymerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in actin polymerization or depolymerization TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of lymphocyte migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of membrane tubulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of clathrin-dependent endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein-containing complex localization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynapse organization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in spindle localization IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle budding from membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vesicle organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vesicle transport along actin filament ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in actin cap IEA
Inferred from Electronic Annotation
more info
  
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
actin nucleation-promoting factor WASL
Names
Wiskott-Aldrich syndrome like
neural Wiskott-Aldrich syndrome protein

NCBI Reference Sequences (RefSeq)

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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_003941.4 → NP_003932.3  actin nucleation-promoting factor WASL

    See identical proteins and their annotated locations for NP_003932.3

    Status: REVIEWED

    Source sequence(s)
    BC028602, BC052955, DB380642
    Consensus CDS
    CCDS34743.1
    UniProtKB/Swiss-Prot
    A1JUI9, O00401, Q7Z746
    UniProtKB/TrEMBL
    A8K180
    Related
    ENSP00000223023.4, ENST00000223023.5
    Conserved Domains (4) summary
    cd01205
    Location:40 → 138
    EVH1_WASP-like; WASP family proteins EVH1 domain
    pfam00786
    Location:202 → 259
    PBD; P21-Rho-binding domain
    cd22074
    Location:402 → 428
    WH2_N-WASP_r1; first tandem Wiskott Aldrich syndrome homology region 2 (WH2 motif) repeat found in human Neural Wiskott-Aldrich syndrome protein (N-WASP) and related domains
    cd22075
    Location:429 → 453
    WH2_hN-WASP_r2_like; second tandem Wiskott Aldrich syndrome homology region 2 (WH2 motif) repeat found in human Neural Wiskott-Aldrich syndrome protein (N-WASP) and related domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    123681943..123749003 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    124998697..125065742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00401.2 GenPept UniProtKB/Swiss-Prot:O00401

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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