POLR1F
RNA Polymerase I Subunit F
Gene Information Card
| Symbol | POLR1F |
|---|---|
| Full Name | RNA Polymerase I Subunit F |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 221830 ncbi.nlm.nih.gov/gene/221830 |
| Ensembl ID | ENSG00000106348 |
| UniProt ID | Q9H3D4 |
| OMIM ID | 617534 |
| HGNC ID | 26193 |
| Aliases | RPA43, RPA2.1, POLR1E |
Description
POLR1F encodes a subunit of RNA polymerase I, the enzyme responsible for synthesizing ribosomal RNA (rRNA) in the nucleolus. This subunit is essential for the assembly and stability of the polymerase I complex and for transcription initiation. Mutations in POLR1F are associated with Treacher Collins syndrome and other ribosomopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Treacher Collins syndrome | Loss-of-function mutations impair rRNA transcription, leading to craniofacial development defects | OMIM #617534 |
| Acrofacial dysostosis | Disrupted ribosome biogenesis affects neural crest cell proliferation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 14.5 | Leukemia cell line |
| HeLa | 12.1 | Cervical carcinoma |
| HEK293 | 11.3 | Embryonic kidney |
| A549 | 9.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.674G>A (p.Arg225Gln) | Missense | Rare | Impaired protein interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, reducing rRNA transcription.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations that disrupt subunit assembly may exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase I activity | • nucleolus |
| • ribosome biogenesis | • transcription initiation from RNA polymerase I promoter |
| • DNA-directed 5'-3' RNA polymerase activity |
Pathways
• RNA polymerase I transcription
• rRNA processing
• Ribosome biogenesis in eukaryotes
Protein Summary
POLR1F (RPA43) is a 43 kDa subunit of RNA polymerase I. It is required for the recruitment of the polymerase to the rDNA promoter and for transcription elongation. The protein localizes to the nucleolus and interacts with other Pol I subunits and transcription factors.
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