CSTF1: Cleavage Stimulation Factor Subunit 1
A key component of the mRNA polyadenylation machinery, involved in 3' end processing and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | CSTF1 |
|---|---|
| Full Name | Cleavage Stimulation Factor Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 1477 ncbi.nlm.nih.gov/gene/1477 |
| Ensembl ID | ENSG00000101138 |
| UniProt ID | Q05048 |
| OMIM ID | 600368 |
| HGNC ID | 2484 |
| Aliases | CSTF-50, CstF-50, CstF50 |
Description
CSTF1 encodes the 50 kDa subunit of the cleavage stimulation factor (CstF), a multi-subunit complex essential for pre-mRNA 3' end processing and polyadenylation. The protein recognizes the GU-rich downstream sequence element (DSE) and recruits other processing factors. CSTF1 is involved in alternative polyadenylation, which regulates gene expression and isoform diversity. Dysregulation of CSTF1 has been linked to various cancers and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of CSTF1 leads to global shortening of 3' UTRs, promoting oncogene expression and tumor progression. | PMID: 22939622 |
| Ovarian cancer | CSTF1 amplification and overexpression correlate with poor prognosis and altered polyadenylation site usage. | PMID: 26956414 |
| Neurodevelopmental disorders | Rare variants in CSTF1 have been associated with intellectual disability and microcephaly, likely due to defective mRNA processing. | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 8.1 | Low |
| Heart | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | Cervical cancer cell line |
| K562 | 18.7 | Leukemia cell line |
| HepG2 | 14.1 | Liver cancer cell line |
| A549 | 11.6 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.1282G>A (p.Glu428Lys) | Missense | <0.01% | Unknown; reported in ClinVar as likely benign |
| c.1477C>T (p.Arg493*) | Nonsense | <0.01% | Predicted loss-of-function; associated with neurodevelopmental phenotypes |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CSTF1 are predicted to cause loss of function, impairing mRNA 3' end processing and leading to reduced expression of target genes.
Gain of Function (GOF)
Amplification and overexpression of CSTF1 in cancers may act as a gain-of-function mechanism, promoting oncogenic alternative polyadenylation.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CSTF1.
View complete mutation data：
Gene Ontology (GO)
| • mRNA 3'-end processing | • poly(A) tail binding |
| • RNA binding | • cleavage stimulation factor complex |
| • nucleus | • cytoplasm |
Pathways
• mRNA 3'-end processing
• Cleavage and polyadenylation of pre-mRNA
Protein Summary
CSTF1 is a 50 kDa protein that forms a heterotrimeric complex with CSTF2 and CSTF3. It contains a proline-rich region and a C-terminal domain that interacts with RNA polymerase II. The protein binds directly to the GU-rich downstream sequence element (DSE) of pre-mRNA and is critical for the assembly of the cleavage and polyadenylation complex. CSTF1 also participates in coupling transcription and RNA processing.
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