POLR3H
RNA Polymerase III Subunit H
Gene Information Card
| Symbol | POLR3H |
|---|---|
| Full Name | RNA Polymerase III Subunit H |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 171568 ncbi.nlm.nih.gov/gene/171568 |
| Ensembl ID | ENSG00000100320 |
| UniProt ID | Q9Y535 |
| OMIM ID | 614494 |
| HGNC ID | 30087 |
| Aliases | RPC8, RPC32, RPC10, POLR3H, C22orf9 |
Description
POLR3H encodes subunit H of RNA polymerase III, the enzyme responsible for transcribing small non-coding RNAs such as tRNAs, 5S rRNA, and U6 snRNA. Subunit H is essential for polymerase assembly and promoter recognition. Mutations in POLR3H are associated with hypomyelinating leukodystrophy and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 8 (HLD8) | Loss-of-function mutations impair RNA polymerase III activity, reducing transcription of small RNAs critical for myelin formation | OMIM #616494; ClinVar |
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia | Biallelic POLR3H mutations disrupt polymerase III function, leading to defective myelination | OMIM #616494; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 11.7 | Moderate expression |
| K562 | 9.3 | Low expression |
| HepG2 | 7.8 | 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.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of function |
| c.494G>A (p.Arg165His) | Missense | Rare | Impaired polymerase assembly |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause hypomyelinating leukodystrophy 8.
Gain of Function (GOF)
No evidence of gain-of-function mutations in POLR3H.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase III activity |
| • nucleus | • cytoplasm |
| • transcription of RNA polymerase III |
Pathways
• RNA polymerase III transcription
• tRNA transcription
• 5S rRNA transcription
Protein Summary
POLR3H encodes a 32 kDa subunit of RNA polymerase III. The protein contains a conserved RNA polymerase domain and is required for the assembly and stability of the polymerase III complex. It interacts with other subunits to recognize promoter elements and initiate transcription of small non-coding RNAs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
