POLR3GL
RNA Polymerase III Subunit GL
Gene Information Card
| Symbol | POLR3GL |
|---|---|
| Full Name | RNA Polymerase III Subunit GL |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 84284 ncbi.nlm.nih.gov/gene/84284 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9BUY5 |
| OMIM ID | 617456 |
| HGNC ID | 28476 |
| Aliases | RPC7L, RPC32, POLR3G-like |
Description
POLR3GL (RNA Polymerase III Subunit GL) is a protein-coding gene that encodes a subunit of RNA polymerase III, the enzyme responsible for transcribing small non-coding RNAs such as tRNAs, 5S rRNA, and U6 snRNA. The encoded protein is a component of the polymerase III complex and is essential for its assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukodystrophy, hypomyelinating, 23 | Defective RNA polymerase III function leads to impaired transcription of tRNAs and other small RNAs, affecting myelination | OMIM #617456 |
| Hypomyelinating leukodystrophy | Mutations in POLR3GL disrupt RNA polymerase III activity, causing neurological symptoms | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.5 | Low expression |
| HepG2 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Loss of function |
| c.337C>T | Nonsense | Rare | Premature truncation |
| c.500_501del | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to reduced or absent POLR3GL protein impair RNA polymerase III activity, causing hypomyelinating leukodystrophy.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
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 | • tRNA transcription |
Pathways
• RNA polymerase III transcription
• tRNA processing
Protein Summary
POLR3GL is a 32 kDa subunit of RNA polymerase III, localized in the nucleus. It is required for the assembly and stability of the polymerase III complex, which transcribes small non-coding RNAs essential for protein synthesis and splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR3GL Knockout HEK293 Cell Line | EDJ-KQ10041 | Human | 84265 | Details Get a Quote |
| POLR3GL Knockout A-549 Cell Line | EDJ-KQ37051 | Human | 84265 | Details Get a Quote |
| POLR3GL Knockout HCT 116 Cell Line | EDJ-KQ37052 | Human | 84265 | Details Get a Quote |
| POLR3GL Knockout HeLa Cell Line | EDJ-KQ37053 | Human | 84265 | Details Get a Quote |
