CWF19L1 Gene Summary [Human]
This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CWF19L1 |
| Official Name | CWF19 like cell cycle control factor 1 [Source:HGNC Symbol;Acc:HGNC:25613] |
| Ensembl ID | ENSG00000095485 |
| Bio databases IDs | |
| Aliases | CWF19 like cell cycle control factor 1, human Dbr1 associated ribonuclease 1 |
| Synonyms | C19L1, CWF19 like cell cycle control factor 1, hDrn1, SCAR17 |
| 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 CWF19L1 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 similar to CwfJ C-terminus 2
- protein binding
- metallophosphatase superfamily, metallophosphatase domain
- HIT_like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CWF19L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- post-mRNA release spliceosomal complex
Molecular Function
What the gene product does at the molecular level
- protein binding