WIPF1
WAS/WASL Interacting Protein Family Member 1
Gene Information Card
| Symbol | WIPF1 |
|---|---|
| Full Name | WAS/WASL Interacting Protein Family Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 7456 ncbi.nlm.nih.gov/gene/7456 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | O43516 |
| OMIM ID | 602357 |
| HGNC ID | 12726 |
| Aliases | WIP, WASPIP |
Description
WIPF1 encodes WASP-interacting protein (WIP), a key regulator of actin cytoskeleton dynamics. WIP binds to the WASP family of proteins (WAS and WASL) and stabilizes them, thereby controlling actin polymerization and cell migration. Mutations in WIPF1 are associated with immune deficiencies and hematological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wiskott-Aldrich syndrome | Loss of WIP leads to WAS protein destabilization, impairing T-cell and platelet function | ClinVar, OMIM |
| X-linked thrombocytopenia | WIP deficiency exacerbates WAS protein instability, causing reduced platelet count | ClinVar |
| Neutropenia | WIP mutations disrupt actin remodeling in neutrophils, impairing chemotaxis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Spleen | 9.8 | Medium |
| Lymph node | 8.5 | Medium |
| Blood | 6.2 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| Jurkat | 11.2 | T-cell line |
| K562 | 8.9 | Myeloid leukemia line |
| HeLa | 7.3 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Loss of function; truncated WIP protein |
| c.250G>A (p.Gly84Arg) | Missense | <0.01% | Impaired WAS binding |
| c.400_401del (p.Lys134Glufs*2) | Frameshift | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause WIP truncation or absence, leading to WAS protein degradation and actin defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein binding |
| • actin cytoskeleton organization | • cell migration |
| • immune response |
Pathways
• WASP/WAVE actin polymerization
• T-cell receptor signaling
• Platelet activation
Protein Summary
WIP is a 503-amino acid protein that contains a WASP-binding domain and an actin-binding domain. It stabilizes WASP and promotes actin nucleation, essential for immune cell function and platelet formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WIPF1 Knockout HEK293 Cell Line | EDJ-KQ6011 | Human | 7456 | Details Get a Quote |
| WIPF1 Knockout A-549 Cell Line | EDJ-KQ29619 | Human | 7456 | Details Get a Quote |
| WIPF1 Knockout HeLa Cell Line | EDJ-KQ29620 | Human | 7456 | Details Get a Quote |
| WIPF1 Knockout HCT 116 Cell Line | EDJ-KQ71704 | Human | 7456 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
