RFWD3 Gene Summary [Human]
Enables MDM2/MDM4 family protein binding activity; p53 binding activity; and ubiquitin protein ligase activity. Involved in several processes, including DNA metabolic process; regulation of cell cycle phase transition; and response to ionizing radiation. Located in nucleoplasm and site of DNA damage. Colocalizes with site of double-strand break. Implicated in Fanconi anemia. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RFWD3 |
| Official Name | ring finger and WD repeat domain 3 [Source:HGNC Symbol;Acc:HGNC:25539] |
| Ensembl ID | ENSG00000168411 |
| Bio databases IDs | |
| Aliases | ring finger and WD repeat domain 3 |
| Synonyms | FANCW, RGD1305243, ring finger and WD repeat domain 3, RNF201 |
| 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 RFWD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase activity
- hyaluronan binding domain
- coiled-coil domain
- WD40
- enzyme
- p53 binding
- Ring finger domain
- protein binding
- RING-type zinc-finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- SSQ domain
- RING-H2 zinc finger domain
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- plasma cell myeloma
- Fanconi anemia group W
- oligozoospermia
- testicular germ cell tumor
- germ cell neoplasia
- myopia
- testicular carcinoma
- testicular cancer
role in cell
- accumulation
- phosphorylation in
- formation
- formation in
- stabilization in
- DNA damage response
- polyubiquitination in
- processing
- ubiquitination in
- progression 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.
- Nucleus
- nucleoplasm
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RFWD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitotic cell cycle G1/S transition DNA damage checkpoint
- double-strand break repair via homologous recombination
- replication fork processing
- regulation of DNA damage checkpoint
- response to DNA damage stimulus
- response to ionizing radiation
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- site of double-strand break
- PML body
- cytoplasm
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- p53 binding
- protein binding
- metal ion binding