CWF19L1 Gene - CWF19 Like Cell Cycle Control Factor 1
A gene encoding a protein involved in cell cycle regulation and RNA processing, with potential implications in cancer and developmental disorders.
Gene Information Card
| Symbol | CWF19L1 |
|---|---|
| Full Name | CWF19 Like Cell Cycle Control Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 55277 ncbi.nlm.nih.gov/gene/55277 |
| Ensembl ID | ENSG00000138107 |
| UniProt ID | Q69YN2 |
| OMIM ID | 616128 |
| HGNC ID | 25613 |
| Aliases | CWF19L1, CWF19L, FLJ10706, MGC13170 |
Description
CWF19L1 (CWF19 Like Cell Cycle Control Factor 1) is a protein-coding gene located on chromosome 10q24.31. The encoded protein is involved in cell cycle progression and RNA processing, particularly in the regulation of pre-mRNA splicing. It is conserved across eukaryotes and has been implicated in various cellular processes including DNA damage response and cell proliferation. Mutations in CWF19L1 have been associated with neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair cell cycle control and RNA splicing, leading to neuronal dysfunction | ClinVar, OMIM |
| Breast cancer | Overexpression and copy number alterations may promote cell proliferation | COSMIC |
| Colorectal cancer | Somatic mutations and altered expression observed in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| MCF7 | 7.5 | Moderate expression |
| A549 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced protein stability |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent protein, impairing cell cycle control.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
| • cadherin binding (GO:0045296) | • cell cycle (GO:0007049) |
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• Cell Cycle (Reactome: R-HSA-1640170)
Protein Summary
The CWF19L1 protein (UniProt Q69YN2) is a 546-amino acid nuclear protein that contains a CWF19 domain, which is characteristic of cell cycle control factors. It is involved in pre-mRNA splicing as part of the spliceosome complex and plays a role in cell cycle progression. The protein interacts with other splicing factors and is essential for proper cell division. Structural studies suggest it may function as a scaffold for RNA processing complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CWF19L1 Knockout HEK293 Cell Line | EDJ-KQ11251 | Human | 55280 | Details Get a Quote |
| CWF19L1 Knockout A-549 Cell Line | EDJ-KQ40597 | Human | 55280 | Details Get a Quote |
| CWF19L1 Knockout HCT 116 Cell Line | EDJ-KQ40599 | Human | 55280 | Details Get a Quote |
| CWF19L1 Knockout HeLa Cell Line | EDJ-KQ40600 | Human | 55280 | Details Get a Quote |
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