WASL
WASP Like Actin Nucleation Promoting Factor
Gene Information Card
| Symbol | WASL |
|---|---|
| Full Name | WASP like actin nucleation promoting factor |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 8976 ncbi.nlm.nih.gov/gene/8976 |
| Ensembl ID | ENSG00000106299 |
| UniProt ID | O00401 |
| OMIM ID | 605056 |
| HGNC ID | 12735 |
| Aliases | N-WASP, NWASP |
Description
The WASL gene encodes the neural Wiskott-Aldrich syndrome protein (N-WASP), a key regulator of actin cytoskeleton dynamics. It promotes actin nucleation by activating the Arp2/3 complex in response to signaling cues, playing critical roles in cell motility, vesicle trafficking, and pathogen internalization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wiskott-Aldrich syndrome (WAS) | Mutations in WASL are not directly causative; WAS is caused by WAS gene mutations. WASL is a homolog but not linked to the syndrome. | No direct evidence in ClinVar or OMIM for WASL in WAS. |
| Cancer (various types) | Overexpression or amplification of WASL may promote invasive cell migration and metastasis via enhanced actin polymerization. | COSMIC reports somatic mutations and copy number changes in multiple cancer types. |
| Intellectual disability | Rare variants in WASL have been associated with neurodevelopmental phenotypes in case studies. | Limited evidence from literature and ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | High |
| Lung | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Heart | 6.7 | Low |
| Kidney | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 11.8 | Lung carcinoma cell line |
| HEK293 | 14.5 | Embryonic kidney cell line |
| SH-SY5Y | 18.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown functional effect |
| c.567_568del (p.Leu190fs) | Frameshift | <0.01% | Predicted loss of function |
| Amplification | Copy number gain | 1.2% in COSMIC | Potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing actin nucleation activity.
Gain of Function (GOF)
Amplifications or activating missense mutations may enhance Arp2/3 activation, promoting cell motility.
Dominant Negative (DN)
Some missense mutations in the WH1 domain may disrupt autoinhibition, leading to constitutive activation.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • Arp2/3 complex-mediated actin nucleation |
| • cell migration | • vesicle transport |
| • signal transduction |
Pathways
• Regulation of actin cytoskeleton
• Fc gamma R-mediated phagocytosis
• Bacterial invasion of epithelial cells
• ErbB signaling pathway
Protein Summary
N-WASP is a 505-amino acid protein containing WH1, basic, GBD, proline-rich, and VCA domains. It binds to Cdc42 and PIP2 to relieve autoinhibition, enabling interaction with the Arp2/3 complex to nucleate actin filaments. It is ubiquitously expressed with high levels in brain and is involved in filopodia formation, endocytosis, and pathogen entry.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASL Knockout HEK293 Cell Line | EDJ-KQ6418 | Human | 8976 | Details Get a Quote |
| WASL Knockout A-549 Cell Line | EDJ-KQ30467 | Human | 8976 | Details Get a Quote |
| WASL Knockout HCT 116 Cell Line | EDJ-KQ30468 | Human | 8976 | Details Get a Quote |
| WASL Knockout HeLa Cell Line | EDJ-KQ30469 | Human | 8976 | Details Get a Quote |
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