POLR1E
RNA Polymerase I Subunit E
Gene Information Card
| Symbol | POLR1E |
|---|---|
| Full Name | RNA Polymerase I Subunit E |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 64425 ncbi.nlm.nih.gov/gene/64425 |
| Ensembl ID | ENSG00000137054 |
| UniProt ID | Q9GZS1 |
| OMIM ID | 617458 |
| HGNC ID | 17662 |
| Aliases | AC19, RPA49, PAF53 |
Description
POLR1E encodes a subunit of RNA polymerase I, the enzyme that synthesizes ribosomal RNA (rRNA) in the nucleolus. This subunit is essential for transcription initiation and elongation of rRNA genes, playing a critical role in ribosome biogenesis and cell growth. Mutations in POLR1E are associated with Treacher Collins syndrome and have been implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Treacher Collins syndrome | Loss-of-function mutations impair rRNA transcription, leading to craniofacial development defects | OMIM #617458 |
| Colorectal cancer | Somatic mutations and altered expression may disrupt ribosome biogenesis, promoting tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK 293 | 13.2 | Embryonic kidney cells |
| K562 | 11.8 | Leukemia cell line |
| HepG2 | 9.6 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% | Impaired rRNA transcription, associated with Treacher Collins syndrome |
| c.1000G>A (p.Glu334Lys) | Missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate or destabilize the protein, reducing rRNA synthesis.
Gain of Function (GOF)
Not reported for POLR1E.
Dominant Negative (DN)
Some missense mutations may interfere with polymerase I complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA-directed 5'-3' RNA polymerase activity | • nucleolus |
| • ribosome biogenesis | • transcription initiation from RNA polymerase I promoter |
| • RNA polymerase I complex |
Pathways
• RNA polymerase I transcription
• rRNA processing
• Ribosome biogenesis in eukaryotes
Protein Summary
POLR1E (AC19/RPA49) is a 19 kDa subunit of RNA polymerase I. It contains a conserved RNA polymerase domain and interacts with other Pol I subunits to stabilize the initiation complex. The protein localizes to the nucleolus and is essential for rRNA transcription.
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