RTF1
RTF1 Homolog, Paf1/RNA Polymerase II Complex Component
Gene Information Card
| Symbol | RTF1 |
|---|---|
| Full Name | RTF1 Homolog, Paf1/RNA Polymerase II Complex Component |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 23168 ncbi.nlm.nih.gov/gene/23168 |
| Ensembl ID | ENSG00000137815 |
| UniProt ID | Q92541 |
| OMIM ID | 610509 |
| HGNC ID | 18387 |
| Aliases | hRTF1, Paf1 complex component RTF1, RNA polymerase II-associated factor 1 homolog |
Description
RTF1 is a component of the Paf1 complex, which is involved in transcription elongation by RNA polymerase II. It plays a role in chromatin modification, including histone H2B monoubiquitination and H3K4 and H3K79 methylation, thereby regulating gene expression. RTF1 is essential for proper transcriptional elongation and co-transcriptional processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RTF1 mutations and overexpression may alter Paf1 complex function, affecting transcription of oncogenes and tumor suppressors. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Disruption of Paf1 complex components can impair neuronal gene expression programs. | ClinVar lists RTF1 variants in patients with developmental delay and intellectual disability. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebral cortex) | 8.2 | Medium |
| Heart | 6.0 | Low |
| Liver | 4.5 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
| HeLa | 9.1 | Cervical cancer cells |
| HepG2 | 6.4 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.02% in COSMIC | Alters protein stability and Paf1 complex interaction |
| c.1456_1457del (p.Glu486fs) | Frameshift | <0.01% | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt Paf1 complex assembly.
Gain of Function (GOF)
Not well characterized; some missense mutations may enhance transcription of specific genes.
Dominant Negative (DN)
Mutations that produce a stable but non-functional protein that competes with wild-type RTF1.
View complete mutation data：
Gene Ontology (GO)
| • transcription elongation by RNA polymerase II | • histone H2B monoubiquitination |
| • chromatin remodeling | • positive regulation of transcription by RNA polymerase II |
| • Paf1 complex |
Pathways
• Paf1 complex pathway
• RNA polymerase II transcription elongation
• Histone modification
Protein Summary
RTF1 is a 709-amino acid protein that forms part of the Paf1 complex. It contains a conserved N-terminal domain required for complex assembly and a C-terminal region that interacts with RNA polymerase II. The protein is localized in the nucleus and is involved in coupling transcription elongation with chromatin modification.
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