WDR1 Gene: WD Repeat Domain 1
Key regulator of actin cytoskeleton dynamics and cofilin-mediated actin filament disassembly
Gene Information Card
| Symbol | WDR1 |
|---|---|
| Full Name | WD Repeat Domain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 9948 ncbi.nlm.nih.gov/gene/9948 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | O75083 |
| OMIM ID | 604734 |
| HGNC ID | 12754 |
| Aliases | AIP1, NORI-1, HEL-S-41, WD40 repeat protein 1 |
Description
WDR1 (WD Repeat Domain 1) encodes a protein that interacts with actin-depolymerizing factor (ADF)/cofilin to promote actin filament disassembly and turnover. It is essential for cytoskeletal remodeling, cell motility, and cytokinesis. Mutations in WDR1 are associated with autosomal recessive hemolytic anemia with neutropenia and susceptibility to Perry syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive hemolytic anemia with neutropenia | Loss-of-function mutations impair actin disassembly in erythrocytes and neutrophils, leading to membrane instability and reduced cell survival. | ClinVar, OMIM #604734 |
| Perry syndrome (susceptibility) | Missense variants may alter cofilin binding, contributing to neuronal actin dysregulation and parkinsonism. | OMIM #168605, ClinVar |
| Neutropenia, severe congenital | Biallelic WDR1 mutations disrupt neutrophil actin dynamics, causing impaired migration and immune deficiency. | NCBI Gene, OMIM #604734 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 28.5 | High |
| Spleen | 22.3 | High |
| Bone Marrow | 19.8 | High |
| Lung | 12.1 | Medium |
| Brain | 8.4 | Medium |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 35.2 | High expression |
| HeLa (cervical carcinoma) | 18.7 | Moderate expression |
| A549 (lung carcinoma) | 14.3 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.589C>T (p.Arg197Trp) | Missense | Rare | Impaired cofilin binding; associated with hemolytic anemia |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Reduced actin disassembly activity; linked to neutropenia |
| c.1462C>T (p.Arg488Ter) | Nonsense | Rare | Loss of function; truncation of WD repeats |
| c.1975G>A (p.Val659Met) | Missense | Rare | Reported in Perry syndrome susceptibility |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt WD repeat structure or cofilin binding, leading to impaired actin filament disassembly and cytoskeletal defects.
Gain of Function (GOF)
Not described for WDR1; no evidence of activating mutations.
Dominant Negative (DN)
Missense variants (e.g., p.Arg197Trp) may interfere with wild-type WDR1 function in heterozygous state, though disease is typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (Reactome: R-HSA-5663213)
• Cofilin-mediated actin filament disassembly (Reactome: R-HSA-5663220)
• Rho GTPase signaling (Reactome: R-HSA-194315)
Protein Summary
WDR1 (also known as AIP1) is a 66 kDa protein containing multiple WD40 repeats that form a beta-propeller structure. It binds to actin and cofilin, accelerating actin filament severing and depolymerization. WDR1 is critical for rapid actin turnover in dynamic cellular processes such as cytokinesis, cell migration, and endocytosis. Mutations cause cytoskeletal instability leading to blood cell disorders and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR13 Knockout HEK293 Cell Line | EDJ-KQ1891 | Human | 64743 | Details Get a Quote |
| WDR1 Knockout HEK293 Cell Line | EDJ-KQ6835 | Human | 9948 | Details Get a Quote |
| WDR17 Knockout HEK293 Cell Line | EDJ-KQ6925 | Human | 116966 | Details Get a Quote |
| WDR11 Knockout HEK293 Cell Line | EDJ-KQ16130 | Human | 55717 | Details Get a Quote |
| WDR19 Knockout HEK293 Cell Line | EDJ-KQ16131 | Human | 57728 | Details Get a Quote |
| WDR19 Knockout HCT 116 Cell Line | EDJ-KQ46081 | Human | 57728 | Details Get a Quote |
| WDR13 Knockout A-549 Cell Line | EDJ-KQ20489 | Human | 64743 | Details Get a Quote |
| WDR13 Knockout HCT 116 Cell Line | EDJ-KQ21792 | Human | 64743 | Details Get a Quote |
| WDR13 Knockout HeLa Cell Line | EDJ-KQ21793 | Human | 64743 | Details Get a Quote |
| WDR1 Knockout A-549 Cell Line | EDJ-KQ31379 | Human | 9948 | Details Get a Quote |
| WDR1 Knockout HCT 116 Cell Line | EDJ-KQ31380 | Human | 9948 | Details Get a Quote |
| WDR1 Knockout HeLa Cell Line | EDJ-KQ31381 | Human | 9948 | Details Get a Quote |
| WDR17 Knockout A-549 Cell Line | EDJ-KQ32912 | Human | 116966 | Details Get a Quote |
| WDR11 Knockout A-549 Cell Line | EDJ-KQ47306 | Human | 55717 | Details Get a Quote |
| WDR11 Knockout HCT 116 Cell Line | EDJ-KQ47307 | Human | 55717 | Details Get a Quote |
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