CPSF4L
Cleavage and Polyadenylation Specific Factor 4 Like
Gene Information Card
| Symbol | CPSF4L |
|---|---|
| Full Name | cleavage and polyadenylation specific factor 4 like |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 54949 ncbi.nlm.nih.gov/gene/54949 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q8IYF1 |
| OMIM ID | 610534 |
| HGNC ID | 23240 |
| Aliases | CPSF4L1, FLJ20643 |
Description
CPSF4L (cleavage and polyadenylation specific factor 4 like) is a protein-coding gene located on chromosome 17q21.31. It encodes a protein that is similar to CPSF4, a subunit of the cleavage and polyadenylation specificity factor complex involved in pre-mRNA 3'-end processing. The exact function of CPSF4L is not fully characterized, but it is thought to play a role in mRNA polyadenylation and may be involved in cellular processes such as cell cycle regulation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 2.1 | Not detected |
| Lung | 1.8 | Not detected |
| Liver | 0.9 | Not detected |
| Kidney | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.5 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 1.2 | Not detected |
| MCF7 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • mRNA polyadenylation | • cleavage and polyadenylation specificity factor complex |
| • nucleus |
Pathways
• mRNA 3'-end processing
Protein Summary
The CPSF4L protein is a 227-amino acid polypeptide with a molecular weight of approximately 26 kDa. It contains a conserved domain similar to the RNA-binding domain of CPSF4. The protein is predicted to localize to the nucleus and may interact with other components of the polyadenylation machinery. Its expression is highest in testis, suggesting a potential role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPSF4L Knockout HEK293 Cell Line | EDJ-KQ12997 | Human | 642843 | Details Get a Quote |
| CPSF4L Knockout HeLa Cell Line | EDJ-KQ60532 | Human | 642843 | Details Get a Quote |
| CPSF4L Knockout A-549 Cell Line | EDJ-KQ69002 | Human | 642843 | Details Get a Quote |
| CPSF4L Knockout HCT 116 Cell Line | EDJ-KQ77360 | Human | 642843 | Details Get a Quote |
