WDR1

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene.

WD repeat domain 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).

Biological Process actin filament depolymerization Source:GO_Central1 Publication
Biological Process actin filament fragmentation Source:Ensembl
Biological Process apical junction assembly Source:UniProtKB1 Publication
Biological Process cortical cytoskeleton organization Source:Ensembl
Biological Process establishment of planar polarity of follicular epithelium Source:Ensembl
Biological Process locomotion Source:GO_Central1 Publication
Biological Process maintenance of epithelial cell apical/basal polarity Source:UniProtKB1 Publication
Biological Process neutrophil mediated immunity Source:Ensembl
Biological Process neutrophil migration Source:Ensembl
Biological Process platelet formation Source:Ensembl
Biological Process positive regulation of actin filament depolymerization Source:GO_Central1 Publication
Biological Process regulation of actin filament depolymerization Source:UniProtKB1 Publication
Biological Process regulation of cell shape Source:Ensembl
Biological Process regulation of oligodendrocyte differentiation Source:Ensembl
Biological Process regulation of ventricular cardiac muscle cell membrane repolarization Source:Ensembl
Biological Process sarcomere organization Source:GO_Central1 Publication
Biological Process sensory perception of sound Source:ProtInc1 Publication

Cytoplasm
Cytoplasm, cytoskeleton
Cell projection, podosome
Cell junction

Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS):
An immunologic disorder with variable manifestations including early-onset recurrent respiratory infections, stomatitis, cutaneous infections, and neutropenia.