POLR1C
RNA Polymerase I and III Subunit C
Gene Information Card
| Symbol | POLR1C |
|---|---|
| Full Name | RNA Polymerase I and III Subunit C |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 9533 ncbi.nlm.nih.gov/gene/9533 |
| Ensembl ID | ENSG00000112357 |
| UniProt ID | O15160 |
| OMIM ID | 610060 |
| HGNC ID | 9184 |
| Aliases | RPA39, RPC39, AC40, RPAC1, POLR1E |
Description
POLR1C encodes a 39 kDa subunit common to both RNA polymerase I and RNA polymerase III. This subunit is essential for the assembly and catalytic activity of these polymerases, which transcribe ribosomal RNA and small non-coding RNAs, respectively. Mutations in POLR1C cause autosomal recessive hypomyelinating leukodystrophy and Treacher Collins syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 11 | Loss-of-function mutations impair RNA polymerase I/III activity, reducing rRNA and tRNA synthesis, leading to defective myelination | OMIM #616494 |
| Treacher Collins syndrome 3 | Mutations disrupt ribosome biogenesis, affecting neural crest cell proliferation during craniofacial development | OMIM #248390 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 13.5 | High expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 10.1 | Medium expression |
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.208C>T (p.Arg70Trp) | Missense | Rare | Impaired subunit assembly, reduced polymerase activity |
| c.323G>A (p.Arg108His) | Missense | Rare | Dominant negative effect in Treacher Collins syndrome |
Mutation functional classification
Loss of Function (LOF)
Most POLR1C mutations in leukodystrophy are loss-of-function, reducing RNA polymerase I/III activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg108His) act as dominant negative in Treacher Collins syndrome.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase I complex |
| • RNA polymerase III complex | • nucleolus |
| • transcription of rDNA | • transcription of tRNA |
Pathways
• RNA polymerase I transcription
• RNA polymerase III transcription
• Ribosome biogenesis
Protein Summary
POLR1C is a 39 kDa protein that forms part of the core catalytic subunit of RNA polymerases I and III. It is essential for the initiation and elongation phases of transcription of ribosomal RNA and small structural RNAs. The protein localizes to the nucleolus and nucleus.
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