POLR1D
Summary: The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RNA polymerase I and III subunit D | MIM:613715 | Ensembl:ENSG00000186184 | HGNC:HGNC:20422 | PA134914527 | 13q12.2 |
GO terms in POLR1D
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005736 | DNA-directed RNA polymerase I complex |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IEA | GO:0003899 | DNA-directed 5'-3' RNA polymerase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046983 | protein dimerization activity |
Gene expression in normal tissue: POLR1D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in POLR1D
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | arfpathway | tumor suppressor arf inhibits ribosomal biogenesis |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-1834949 | Cytosolic sensors of pathogen-associated DNA |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-427413 | NoRC negatively regulates rRNA expression |
| reactome | R-HSA-5250913 | Positive epigenetic regulation of rRNA expression |
| reactome | R-HSA-5250924 | B-WICH complex positively regulates rRNA expression |
| reactome | R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| reactome | R-HSA-73762 | RNA Polymerase I Transcription Initiation |
| reactome | R-HSA-73762 | RNA Polymerase I Transcription Initiation |
| reactome | R-HSA-73772 | RNA Polymerase I Promoter Escape |
| reactome | R-HSA-73777 | RNA Polymerase I Chain Elongation |
| reactome | R-HSA-73780 | RNA Polymerase III Chain Elongation |
| reactome | R-HSA-73854 | RNA Polymerase I Promoter Clearance |
| reactome | R-HSA-73854 | RNA Polymerase I Promoter Clearance |
| reactome | R-HSA-73863 | RNA Polymerase I Transcription Termination |
| reactome | R-HSA-73864 | RNA Polymerase I Transcription |
| reactome | R-HSA-73864 | RNA Polymerase I Transcription |
| reactome | R-HSA-73980 | RNA Polymerase III Transcription Termination |
| reactome | R-HSA-74158 | RNA Polymerase III Transcription |
| reactome | R-HSA-74158 | RNA Polymerase III Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-749476 | RNA Polymerase III Abortive And Retractive Initiation |
| reactome | R-HSA-76046 | RNA Polymerase III Transcription Initiation |
| reactome | R-HSA-76046 | RNA Polymerase III Transcription Initiation |
| reactome | R-HSA-76061 | RNA Polymerase III Transcription Initiation From Type 1 Promoter |
| reactome | R-HSA-76061 | RNA Polymerase III Transcription Initiation From Type 1 Promoter |
| reactome | R-HSA-76066 | RNA Polymerase III Transcription Initiation From Type 2 Promoter |
| reactome | R-HSA-76066 | RNA Polymerase III Transcription Initiation From Type 2 Promoter |
| reactome | R-HSA-76071 | RNA Polymerase III Transcription Initiation From Type 3 Promoter |
| reactome | R-HSA-76071 | RNA Polymerase III Transcription Initiation From Type 3 Promoter |
| wikipathways | WP4022 | Pyrimidine metabolism |
| wikipathways | WP405 | Eukaryotic Transcription Initiation |
| netpath | Pathway_TNFalpha | TNFalpha |
| kegg | hsa00230 | Purine metabolism - Homo sapiens (human) |
| kegg | hsa00240 | Pyrimidine metabolism - Homo sapiens (human) |
| kegg | hsa03020 | RNA polymerase - Homo sapiens (human) |
| kegg | hsa04623 | Cytosolic DNA-sensing pathway - Homo sapiens (human) |
| kegg | hsa05169 | Epstein-Barr virus infection - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POLR1D
CLASSFICATION
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