POLR3C
RNA Polymerase III Subunit C
Gene Information Card
| Symbol | POLR3C |
|---|---|
| Full Name | RNA Polymerase III Subunit C |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 10623 ncbi.nlm.nih.gov/gene/10623 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9BUI4 |
| OMIM ID | 617454 |
| HGNC ID | 30074 |
| Aliases | RPC62, RPC3, RPC62-POLR3C |
Description
POLR3C encodes the C subunit of RNA polymerase III, a DNA-dependent RNA polymerase that synthesizes small non-coding RNAs such as tRNAs, 5S rRNA, and U6 snRNA. This subunit is essential for polymerase assembly and promoter recognition. Mutations in POLR3C are associated with hypomyelinating leukodystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 8 with or without oligodontia and/or hypogonadotropic hypogonadism | Loss-of-function mutations impair RNA polymerase III activity, reducing transcription of small RNAs critical for myelination | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Thyroid | 7.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 9.8 | Moderate expression |
| HepG2 | 7.3 | Low 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.335G>A (p.Arg112His) | Missense | Rare | Impaired polymerase assembly |
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Reduced transcription activity |
Mutation functional classification
Loss of Function (LOF)
Most reported POLR3C mutations are loss-of-function, leading to reduced RNA polymerase III activity and hypomyelination.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established for POLR3C.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase III activity |
| • nucleus | • cytoplasm |
| • transcription from RNA polymerase III promoter |
Pathways
• RNA polymerase III transcription
• tRNA processing
• rRNA processing
Protein Summary
POLR3C encodes the 62 kDa subunit C of RNA polymerase III, which is part of the enzyme's active site and involved in promoter recognition. The protein contains a conserved RNA polymerase domain and interacts with other subunits to form the holoenzyme.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
