WDR45 Gene Summary [Human]
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | WDR45 |
| Official Name | WD repeat domain 45 [Source:HGNC Symbol;Acc:HGNC:28912] |
| Ensembl ID | ENSG00000196998 |
| Bio databases IDs | |
| Aliases | WD repeat domain 45, neurodegeneration with brain iron accumulation 5 |
| Synonyms | DXImx38e, JM5, NBIA4, NBIA5, Sfc19, WD repeat domain 45, WDRX1, WIPI-4 |
| 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 WDR45 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- WD40
- 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
- neurodegeneration with brain iron accumulation type 5
- mental retardation
- hereditary disorder
- global developmental delay
- x-linked optic atrophy
- developmental disorder
- X-linked complex neurodevelopmental disorder
- X-linked cerebral-cerebellar-coloboma syndrome
- epilepsy
role in cell
- autophagy by
- assembly
- response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WDR45 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagic vacuole assembly
- protein localization to pre-autophagosomal structure
- autophagy
- protein lipidation
- peroxisome degradation
- positive regulation of autophagic vacuole assembly
- cellular response to starvation
- mitochondrion degradation
Cellular Component
Where in the cell the gene product is active
- pre-autophagosomal structure membrane
- pre-autophagosomal structure
- cytosol
- extrinsic to membrane
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- phosphatidylinositol-3,5-bisphosphate binding
- phosphatidylinositol-3-phosphate binding