CPSF7: Cleavage and Polyadenylation Specificity Factor Subunit 7
A key component of the mRNA 3'-end processing machinery involved in polyadenylation and cleavage.
Gene Information Card
| Symbol | CPSF7 |
|---|---|
| Full Name | Cleavage and Polyadenylation Specificity Factor Subunit 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 79869 ncbi.nlm.nih.gov/gene/79869 |
| Ensembl ID | ENSG00000149547 |
| UniProt ID | Q8N684 |
| OMIM ID | 617135 |
| HGNC ID | 23272 |
| Aliases | CFIm59, CPSF7, FLJ12529 |
Description
CPSF7 encodes a subunit of the cleavage and polyadenylation specificity factor (CPSF) complex, which is essential for pre-mRNA 3'-end processing. The protein specifically recognizes and binds to polyadenylation signals (AAUAAA) and facilitates cleavage and polyadenylation of mRNA precursors. It is involved in alternative polyadenylation, influencing mRNA stability, localization, and translation efficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered CPSF7 expression may disrupt alternative polyadenylation, affecting oncogene or tumor suppressor gene expression. | COSMIC; literature reports of altered expression in various cancers. |
| Neurodevelopmental disorders | Potential role via dysregulation of mRNA processing in neurons. | OMIM; limited evidence from rare variant studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression in embryonic kidney cells |
| HeLa | 9.5 | Moderate expression in cervical cancer cells |
| K562 | 7.8 | Moderate expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000G>A (p.Gly334Arg) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1456C>T (p.Arg486Trp) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • RNA binding (GO:0003723) |
| • mRNA polyadenylation (GO:0006378) | • mRNA 3'-end processing (GO:0031124) |
| • nucleus (GO:0005634) |
Pathways
• mRNA 3'-end processing (Reactome: R-HSA-72187)
• Cleavage of mRNA at the 3'-end (Reactome: R-HSA-72172)
Protein Summary
CPSF7 is a 59 kDa protein that contains an RNA recognition motif (RRM) and a proline-rich region. It is a core component of the cleavage factor Im (CFIm) complex, which binds to UGUA elements upstream of the polyadenylation site. The protein shuttles between the nucleus and cytoplasm and is involved in alternative polyadenylation, contributing to transcript diversity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPSF7 Knockout HEK293 Cell Line | EDJ-KQ12220 | Human | 79869 | Details Get a Quote |
| CPSF7 Knockout A-549 Cell Line | EDJ-KQ40969 | Human | 79869 | Details Get a Quote |
| CPSF7 Knockout HCT 116 Cell Line | EDJ-KQ40970 | Human | 79869 | Details Get a Quote |
| CPSF7 Knockout HeLa Cell Line | EDJ-KQ40971 | Human | 79869 | Details Get a Quote |
