WDR1 Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | WDR1 |
| Official Name | WD repeat domain 1 [Source:HGNC Symbol;Acc:HGNC:12754] |
| Ensembl ID | ENSG00000071127 |
| Bio databases IDs | |
| Aliases | WD repeat domain 1, actin-interacting protein 1 |
| Synonyms | AIP1, D5Wsu185e, HEL-S-52, NORI-1, PFITS, PNAS-29, rede, WD repeat domain 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WDR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Anaphase-promoting complex subunit 4 WD40 domain
- actin filament binding
- WD40 repeats
- actin binding
- WD domain, G-beta repeat
- WD40
- ETGE motif
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- non-insulin-dependent diabetes mellitus
- periodic fever, immunodeficiency, and thrombocytopenia syndrome
- autoinflammatory disorder
- intellectual developmental disorder 61
- essential thrombocythemia
- idiopathic scoliosis
- breast carcinoma
- neuroticism
- atrial fibrillation
role in cell
- phosphorylation in
- formation
- cell viability
- production in
- quantity
- activation in
- organization
- migration by
- differentiation
- cytokinesis failure in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- myelin enriched fraction
- glutaminergic synapse
- cell junction
- actin cytoskeleton
- Plasma Membrane
- intercellular junctions
- cytosol
- synapse
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WDR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell shape
- locomotion
- actin filament depolymerization
- sarcomere organization
- regulation of oligodendrocyte differentiation
- regulation of ventricular cardiomyocyte membrane repolarization
- establishment of planar polarity of follicular epithelium
- sensory perception of sound
- cortical cytoskeleton organization
- neutrophil mediated immunity
- regulation of actin filament depolymerization
- maintenance of epithelial cell apical/basal polarity
- positive regulation of actin filament depolymerization
- apical junction assembly
- platelet formation
- actin filament fragmentation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cell-cell junction
- cytosol
- cell junction
- extracellular region
- cell projection
- cortical actin cytoskeleton
- plasma membrane
- podosome
Molecular Function
What the gene product does at the molecular level
- actin filament binding