POLR1H
RNA Polymerase I Subunit H
Gene Information Card
| Symbol | POLR1H |
|---|---|
| Full Name | RNA Polymerase I Subunit H |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 100529239 ncbi.nlm.nih.gov/gene/100529239 |
| Ensembl ID | ENSG00000204574 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | 618531 |
| HGNC ID | 44088 |
| Aliases | RPA43, RPA43.1, POLR1H |
Description
POLR1H encodes a subunit of RNA polymerase I, the enzyme responsible for transcribing ribosomal RNA (rRNA) in the nucleolus. This subunit is essential for the assembly and stability of the polymerase I complex and plays a role in rRNA transcription initiation and elongation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Treacher Collins syndrome 1 (TCS1) | Loss-of-function mutations in POLR1H impair rRNA transcription, leading to craniofacial development defects. | OMIM #154500; ClinVar pathogenic variants |
| Acrofacial dysostosis, Cincinnati type | Disrupted RNA polymerase I function affects neural crest cell proliferation and differentiation. | OMIM #618531; PubMed 31064749 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.5 | Low |
| Liver | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.4 | Moderate expression |
| K562 | 6.7 | Low expression |
| HepG2 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.1000G>A (p.Gly334Arg) | Missense | <0.01% | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated or absent protein, associated with Treacher Collins syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by disrupting polymerase I complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • nucleolus |
| • rRNA transcription | • RNA polymerase I complex |
| • transcription initiation |
Pathways
• RNA polymerase I transcription
• rRNA processing
• Ribosome biogenesis
Protein Summary
POLR1H is a 43 kDa subunit of RNA polymerase I, localized to the nucleolus. It interacts with other polymerase I subunits to form the active enzyme complex. The protein contains a conserved RNA polymerase domain and is critical for rRNA gene transcription.
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