POLR3D
RNA Polymerase III Subunit D
Gene Information Card
| Symbol | POLR3D |
|---|---|
| Full Name | RNA Polymerase III Subunit D |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 661 ncbi.nlm.nih.gov/gene/661 |
| Ensembl ID | ENSG00000168411 |
| UniProt ID | P05423 |
| OMIM ID | 606245 |
| HGNC ID | 9190 |
| Aliases | RPC4, RPC53, POLR3D |
Description
POLR3D encodes subunit D 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.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | Loss-of-function mutations impair RNA polymerase III activity, disrupting transcription of small RNAs critical for myelination. | ClinVar, OMIM |
| Hypomyelinating leukodystrophy | Defective POLR3D leads to reduced tRNA and 5S rRNA synthesis, affecting protein translation in oligodendrocytes. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Liver | 7.1 | Low |
| Heart | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 9.8 | Moderate 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.949G>A (p.Gly317Arg) | Missense | Rare | Impaired subunit assembly |
Mutation functional classification
Loss of Function (LOF)
Most reported POLR3D mutations are loss-of-function, leading to reduced RNA polymerase III activity.
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 | • cytoplasm |
| • transcription from RNA polymerase III promoter |
Pathways
• RNA polymerase III transcription
• tRNA processing
• rRNA processing
Protein Summary
POLR3D is a 398-amino acid protein that forms part of the RNA polymerase III complex. It contains a conserved domain required for interaction with other subunits and promoter DNA. The protein is ubiquitously expressed with highest levels in testis.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
