POLR3E
RNA Polymerase III Subunit E
Gene Information Card
| Symbol | POLR3E |
|---|---|
| Full Name | RNA Polymerase III Subunit E |
| Gene Type | Protein coding |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 55718 ncbi.nlm.nih.gov/gene/55718 |
| Ensembl ID | ENSG00000158615 |
| UniProt ID | Q9NVU0 |
| OMIM ID | 617457 |
| HGNC ID | 23267 |
| Aliases | RPC5, SIN, RPC32, POLR3E_HUMAN |
Description
POLR3E encodes subunit E 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. Mutations in POLR3E are associated with hypomyelinating leukodystrophy and other neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy | Loss-of-function mutations impair RNA polymerase III activity, reducing transcription of tRNAs and other small RNAs critical for myelination. | ClinVar, OMIM |
| POLR3-related leukodystrophy | Biallelic mutations in POLR3E disrupt polymerase III function, leading to deficient tRNA synthesis and hypomyelination. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Lung | 6.3 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.7 | Medium expression |
| K562 | 7.3 | Medium expression |
| SH-SY5Y | 11.1 | High 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.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired polymerase assembly |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in POLR3E cause hypomyelinating leukodystrophy by reducing RNA polymerase III activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations in POLR3E.
Dominant Negative (DN)
No evidence of dominant-negative effects in POLR3E.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • RNA polymerase III activity |
| • nucleus | • cytoplasm |
| • transcription | • tRNA transcription |
| • RNA polymerase III complex |
Pathways
• RNA Polymerase III Transcription
• tRNA Processing
• Non-coding RNA metabolism
Protein Summary
POLR3E encodes a 32 kDa subunit of RNA polymerase III. The protein contains a conserved domain that interacts with other polymerase subunits and is required for promoter recognition and transcription initiation. It is ubiquitously expressed with higher levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR3E Knockout HEK293 Cell Line | EDJ-KQ51466 | Human | 55718 | Details Get a Quote |
| POLR3E Knockout HeLa Cell Line | EDJ-KQ56621 | Human | 55718 | Details Get a Quote |
| POLR3E Knockout A-549 Cell Line | EDJ-KQ65121 | Human | 55718 | Details Get a Quote |
| POLR3E Knockout HCT 116 Cell Line | EDJ-KQ73563 | Human | 55718 | Details Get a Quote |
