PCIF1: Phosphorylated CTD Interacting Factor 1
A key regulator of RNA polymerase II transcription and mRNA cap methylation
Gene Information Card
| Symbol | PCIF1 |
|---|---|
| Full Name | phosphorylated CTD interacting factor 1 |
| Gene Type | protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 63935 ncbi.nlm.nih.gov/gene/63935 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H4Z3 |
| OMIM ID | 617555 |
| HGNC ID | 26227 |
| Aliases | CAPAM, FLJ20097, MECOM |
Description
PCIF1 (phosphorylated CTD interacting factor 1) encodes a protein that interacts with the phosphorylated C-terminal domain (CTD) of RNA polymerase II. It functions as a cap-specific adenosine methyltransferase (CAPAM), catalyzing N6-methylation of the 2'-O-methyladenosine (m6Am) at the 5' cap of mRNAs. This modification influences mRNA stability and translation efficiency. PCIF1 is involved in transcriptional regulation and RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PCIF1 mutations and altered expression may affect mRNA cap methylation, impacting oncogene expression and tumor progression. | COSMIC database reports mutations in multiple cancer types including breast, lung, and colorectal cancers. |
| Neurodevelopmental disorders | Potential role due to regulation of gene expression in neurons; specific evidence limited. | ClinVar lists variants of uncertain significance in patients with developmental delay. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.1 | Embryonic kidney cells |
| A549 | 7.8 | Lung cancer cell line |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1073C>T (p.Pro358Leu) | missense | 0.02% | Unknown; likely benign |
| c.1456G>A (p.Glu486Lys) | missense | 0.01% | Unknown; reported in COSMIC |
| c.1882_1883insA (p.Thr628AsnfsTer2) | frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, likely reducing methyltransferase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mRNA cap methylation (Reactome: R-HSA-77075)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
PCIF1 is a 728-amino acid protein containing a WW domain that binds to the phosphorylated CTD of RNA polymerase II. Its C-terminal methyltransferase domain catalyzes N6-methylation of m6Am in mRNA caps. This modification enhances mRNA stability and translation. PCIF1 is predominantly nuclear and widely expressed, with highest levels in testis. It plays a role in transcriptional elongation and RNA processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCIF1 Knockout HEK293 Cell Line | EDJ-KQ14705 | Human | 63935 | Details Get a Quote |
| PCIF1 Knockout A-549 Cell Line | EDJ-KQ43794 | Human | 63935 | Details Get a Quote |
| PCIF1 Knockout HCT 116 Cell Line | EDJ-KQ45021 | Human | 63935 | Details Get a Quote |
| PCIF1 Knockout HeLa Cell Line | EDJ-KQ45022 | Human | 63935 | Details Get a Quote |
