POLR1D
RNA Polymerase I Subunit D
Gene Information Card
| Symbol | POLR1D |
|---|---|
| Full Name | RNA polymerase I subunit D |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.2 |
| NCBI Gene ID | 51082 ncbi.nlm.nih.gov/gene/51082 |
| Ensembl ID | ENSG00000186184 |
| UniProt ID | P0DPB6 |
| OMIM ID | 613715 |
| HGNC ID | 20422 |
| Aliases | RPA16, RPA9, POLR1E, TCS2, AC19 |
Description
POLR1D encodes a subunit of RNA polymerase I, the enzyme responsible for synthesizing ribosomal RNA (rRNA) in the nucleolus. This subunit is essential for the assembly and stability of the polymerase complex and plays a critical role in ribosome biogenesis. Mutations in POLR1D are associated with Treacher Collins syndrome type 2 (TCS2), a disorder of craniofacial development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Treacher Collins syndrome 2 (TCS2) | Haploinsufficiency of POLR1D disrupts rRNA synthesis, impairing neural crest cell proliferation during craniofacial development. | OMIM #613715; ClinVar pathogenic variants |
| Mandibulofacial dysostosis | Similar mechanism as TCS2; reduced POLR1D function leads to defective ribosome biogenesis. | OMIM #154500; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Thyroid | 11.5 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 9.3 | Low |
| Liver | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 10.1 | Moderate expression |
| K562 | 8.7 | Moderate expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.340C>T (p.Arg114*) | Nonsense | Rare | Loss of function; associated with TCS2 |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; disrupts translation initiation |
| c.512_513del (p.Glu171Glyfs*5) | Frameshift | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in POLR1D result in loss of function, leading to haploinsufficiency and impaired rRNA synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for POLR1D; mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase I activity | • nucleolus |
| • ribosome biogenesis | • DNA-directed 5'-3' RNA polymerase activity |
| • nucleic acid binding |
Pathways
• RNA polymerase I transcription
• rRNA processing
• Ribosome biogenesis in eukaryotes
Protein Summary
POLR1D encodes a 16 kDa subunit (RPA16) of RNA polymerase I. The protein is localized to the nucleolus and is required for the assembly of the polymerase complex and initiation of rRNA transcription. It interacts with other Pol I subunits and is essential for ribosome production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POLR1D Knockout HEK293 Cell Line | EDJ-KQ10905 | Human | 51082 | Details Get a Quote |
| POLR1D Knockout A-549 Cell Line | EDJ-KQ38627 | Human | 51082 | Details Get a Quote |
| POLR1D Knockout HCT 116 Cell Line | EDJ-KQ38628 | Human | 51082 | Details Get a Quote |
| POLR1D Knockout HeLa Cell Line | EDJ-KQ38629 | Human | 51082 | Details Get a Quote |
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