POLR3F
RNA Polymerase III Subunit F
Gene Information Card
| Symbol | POLR3F |
|---|---|
| Full Name | RNA Polymerase III Subunit F |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 10621 ncbi.nlm.nih.gov/gene/10621 |
| Ensembl ID | ENSG00000132664 |
| UniProt ID | Q9H1D9 |
| OMIM ID | 617455 |
| HGNC ID | 30077 |
| Aliases | RPC39, RPC6, RPC7, hRPC39, hRPC6, hRPC7 |
Description
POLR3F encodes a subunit of RNA polymerase III, the enzyme responsible for transcribing small non-coding RNAs such as tRNAs, 5S rRNA, and U6 snRNA. This subunit is essential for polymerase assembly and promoter recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | Loss-of-function mutations impair RNA polymerase III activity, disrupting transcription of essential small RNAs in the central nervous system | ClinVar, OMIM |
| Hypomyelinating leukodystrophy | Defective myelin formation due to reduced Pol III transcription | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Heart | 7.1 | Low |
| Liver | 6.3 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 11.8 | High expression |
| K562 | 9.1 | Medium expression |
| HepG2 | 8.3 | 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.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of function |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
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
• Gene expression (Transcription)
Protein Summary
POLR3F encodes a 39 kDa subunit of RNA polymerase III. It is part of the polymerase core and is involved in initiation and elongation. The protein contains a conserved RNA polymerase domain and interacts with other Pol III subunits.
Related Services
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|---|---|---|---|---|
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