POLR3K
RNA Polymerase III Subunit K
Gene Information Card
| Symbol | POLR3K |
|---|---|
| Full Name | RNA Polymerase III Subunit K |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 51728 ncbi.nlm.nih.gov/gene/51728 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q9Y2Y1 |
| OMIM ID | 606007 |
| HGNC ID | 30074 |
| Aliases | RPC10, RPC11, RPC12, RPC9, RPC10.5, RPC11.5, RPC12.5, RPC9.5, RPC10.5K, RPC11.5K, RPC12.5K, RPC9.5K, RPC10K, RPC11K, RPC12K, RPC9K |
Description
POLR3K 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 catalytic activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | Loss-of-function mutations impair RNA polymerase III activity, disrupting transcription of small RNAs critical for myelination and development. | ClinVar, OMIM |
| Hypomyelinating leukodystrophy | Defective POLR3K leads to reduced tRNA and 5S rRNA synthesis, affecting protein translation in oligodendrocytes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.5 | Low |
| Heart | 5.9 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma |
| K562 | 11.8 | Chronic myeloid leukemia |
| HEK293 | 10.5 | Embryonic kidney |
| HepG2 | 9.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; premature stop codon leads to truncated protein |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely no protein produced |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations cause loss of function, leading to hypomyelinating leukodystrophy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase III activity |
| • nucleus | • nucleoplasm |
| • cytoplasm | • transcription of RNA polymerase III |
Pathways
• RNA polymerase III transcription
• tRNA processing
• 5S rRNA transcription
Protein Summary
POLR3K is a small subunit of RNA polymerase III, essential for the transcription of small non-coding RNAs. It localizes to the nucleus and participates in the assembly and catalytic function of the polymerase complex.
Related Services
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|---|---|---|---|---|
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