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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613715 Ensembl IDEnsembl:ENSG00000186184 HGNC IDHGNC:HGNC:20422 PHARMGKB IDPA134914527 Map Location13q12.2 | |||||
GO terms in POLR1D
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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 |
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Gene expression in normal tissue: POLR1D
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in POLR1D
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD68 | Paclitaxel | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POLR1D
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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