WDPCP Gene Summary [Human]
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | WDPCP |
| Official Name | WD repeat containing planar cell polarity effector [Source:HGNC Symbol;Acc:HGNC:28027] |
| Ensembl ID | ENSG00000143951 |
| Bio databases IDs | |
| Aliases | WD repeat containing planar cell polarity effector, ciliogenesis and planar polarity effector complex subunit 5 |
| Synonyms | BBS15, C2orf86, CHDTHP, CPLANE5, FRITZ, FRTZ, homolog-13, RGD1309501, WD repeat containing planar cell polarity effector |
| 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 WDPCP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD repeat-containing and planar cell polarity effector protein Fritz
- protein binding
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- COVID-19
- prostatic carcinoma
- prostate cancer
- epithelial cancer
- asthma
- Bardet-Biedl syndrome type 12
- Alzheimer disease
- congenital heart defects, hamartomas of the tongue and polysyndactyly
- major depression
role in cell
- migration
- assembly
- ruffling
- migration by
- organization
- organization in
- ruffling in
- loss in
- polarity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cilia
- cell cortex
- axonemes
- actin filaments
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WDPCP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- respiratory system development
- cilium morphogenesis
- regulation of protein localization
- auditory receptor cell morphogenesis
- septin cytoskeleton organization
- palate development
- nervous system development
- smoothened signaling pathway
- regulation of ruffle assembly
- tongue morphogenesis
- embryonic digit morphogenesis
- establishment of protein localization
- regulation of focal adhesion assembly
- intraflagellar transport
- kidney development
- camera-type eye development
- establishment of planar polarity
- digestive system development
- circulatory system development
- regulation of embryonic cell shape
- regulation of fibroblast migration
- regulation of establishment of cell polarity
Cellular Component
Where in the cell the gene product is active
- cell cortex
- cilium
- plasma membrane
- axoneme
- apical plasma membrane