WDR48 Gene Summary [Human]
The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | WDR48 |
| Official Name | WD repeat domain 48 [Source:HGNC Symbol;Acc:HGNC:30914] |
| Ensembl ID | ENSG00000114742 |
| Bio databases IDs | |
| Aliases | WD repeat domain 48 |
| Synonyms | 8430408H12Rik, Bun62, KIAA1449, mKIAA1449, P80, RGD1309702, SPG60, UAF1, WD repeat domain 48 |
| 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 WDR48 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF3337)
- WD domain, G-beta repeat
- coiled-coil domain
- WD40
- protein binding
- protease activator
- DNA binding
- WD-like repeat
- WD40 repeats
- single-stranded DNA binding
- double-stranded DNA binding
- Ubl1_cv_Nsp3_N-like
- SUMO-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metabolic syndrome X
role in cell
- expression in
- proliferation
- apoptosis
- activation in
- survival
- migration
- vesiculation
- invasion by
- ubiquitination in
- homologous recombination 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.
- Cytoplasm
- intracellular membrane-bounded organelle
- Nucleus
- lysosome
- cytosol
- nucleoplasm
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WDR48 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- spermatogenesis
- double-strand break repair via homologous recombination
- embryonic organ development
- response to DNA damage stimulus
- single fertilization
- skeletal system morphogenesis
- skin development
- positive regulation of JAK-STAT cascade
- seminiferous tubule development
- homeostasis of number of cells
- positive regulation of epithelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- late endosome
- cytosol
- nucleoplasm
- lysosome
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- ubiquitin binding
- double-stranded DNA binding
- ubiquitin-specific protease activator activity
- single-stranded DNA binding