CPSF1 (Cleavage and Polyadenylation Specificity Factor 1)
A key component of the mRNA 3'-end processing machinery, involved in polyadenylation and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | CPSF1 |
|---|---|
| Full Name | Cleavage and polyadenylation specificity factor subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.23 |
| NCBI Gene ID | 29894 ncbi.nlm.nih.gov/gene/29894 |
| Ensembl ID | ENSG00000171862 |
| UniProt ID | Q10570 |
| OMIM ID | 606027 |
| HGNC ID | 2324 |
| Aliases | CPSF160, HSU37012 |
Description
CPSF1 encodes the 160 kDa subunit of the cleavage and polyadenylation specificity factor (CPSF) complex, which is essential for pre-mRNA 3'-end processing. The protein recognizes the polyadenylation signal (AAUAAA) and recruits other factors to catalyze cleavage and polyadenylation. CPSF1 is involved in alternative polyadenylation, influencing gene expression and transcript diversity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered CPSF1 expression affects alternative polyadenylation of oncogenes and tumor suppressors, promoting cell proliferation. | PMID: 25657329; COSMIC |
| Colorectal cancer | CPSF1 overexpression correlates with poor prognosis and drives tumorigenesis via 3'-UTR shortening of growth-promoting mRNAs. | PMID: 31511637; COSMIC |
| Hepatocellular carcinoma | CPSF1 upregulation enhances mRNA stability of cell cycle regulators, contributing to hepatocarcinogenesis. | PMID: 31073087; COSMIC |
| Neurodevelopmental disorder | Homozygous loss-of-function mutations in CPSF1 cause intellectual disability and microcephaly, likely due to defective mRNA processing. | PMID: 28264986; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Brain | 18.2 | Medium |
| Liver | 15.8 | Medium |
| Heart | 12.1 | Medium |
| Lung | 10.4 | Medium |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 28.3 | Cervical cancer cell line; high expression |
| HepG2 | 22.1 | Hepatocellular carcinoma cell line; moderate expression |
| MCF7 | 19.5 | Breast cancer cell line; moderate expression |
| A549 | 15.2 | Lung adenocarcinoma cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with neurodevelopmental disorder (ClinVar) |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; reported in intellectual disability (ClinVar) |
| c.2101A>G (p.Thr701Ala) | Missense | 0.2% | Unknown significance; found in cancer samples (COSMIC) |
| c.3456_3457insA | Frameshift | <0.1% | Loss of function; reported in developmental delay (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CPSF1 lead to truncated or absent protein, impairing mRNA 3'-end processing and causing neurodevelopmental disorders.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CPSF1.
Dominant Negative (DN)
No evidence of dominant-negative effects for CPSF1 mutations.
View complete mutation data：
Gene Ontology (GO)
| • mRNA 3'-end processing (GO:0031124) | • poly(A) tail addition (GO:0043631) |
| • cleavage and polyadenylation specificity factor complex (GO:0005847) | • RNA binding (GO:0003723) |
| • nucleus (GO:0005634) |
Pathways
• mRNA 3'-end processing (Reactome: R-HSA-72172)
• Cleavage of Growing Transcript in the Termination Region (Reactome: R-HSA-72163)
• Formation of the Cleavage and Polyadenylation Complex (Reactome: R-HSA-72165)
Protein Summary
CPSF1 is a 160 kDa nuclear protein that serves as the core RNA-binding subunit of the CPSF complex. It directly recognizes the AAUAAA polyadenylation signal in pre-mRNA and coordinates with other subunits (CPSF2, CPSF3, CPSF4) to mediate endonucleolytic cleavage and poly(A) polymerase recruitment. The protein contains a zinc finger domain and multiple RNA recognition motifs. Post-translational modifications include phosphorylation, which modulates complex assembly and activity.
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