WDR1

Chr 4p16.1

WD repeat domain 1

Aliases:: AIP1
MANE:: ENST00000499869.7

OMIM: 604734 ↗NCBI: 9948 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

WDR1 · O75083

v62025-08-01

Predicted Aligned Error matrix for WDR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.5/ 100

Very high

606 residues

Confidence breakdown

Very high(≥ 90)96%
Confident(70–90)4%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

periodic fever, immunodeficiency, and thrombocytopenia syndrome
0.70
neurodegenerative disease
0.53
gout
0.52
atrial fibrillation
0.51
intellectual developmental disorder 61
0.42
lymphoid leukemia
0.36
alcohol drinking
0.35
response to ustekinumab
0.34
diabetes mellitus
0.31
smoking initiation
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

WD repeat-containing protein 1

Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins (PubMed:15629458, PubMed:27557945, PubMed:29751004). Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions (PubMed:18494608). Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape changes during PCP; the function seems to implicate cooperation with CFL1 and/or DSTN/ADF. Involved in the generation/maintenance of cortical tension (By similarity). Involved in assembly and maintenance of epithelial apical cell junctions and plays a role in the organization of the perijunctional actomyosin belt (PubMed:25792565)