POLR1D polymerase (RNA) I polypeptide D, 16kDa [Homo sapiens (human)]
| Gene Symbol | POLR1D |
| Entrez Gene ID | 51082 |
| Full Name | polymerase (RNA) I polypeptide D, 16kDa |
| Synonyms | AC19, FLJ20616, MGC9850, POLR1C, RPA16, RPA9, RPAC2, RPC16, RPO1-3, TCS2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
13 13q12.2 |
| 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]. |
| Disorder | MIM: 613715 Treacher Collins syndrome 2, 613717 (3) |
| mRNA | NM_015972, 330864725 |
| Protein | NP_057056, 7705740 |
| Product | DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_152705, 330864727 |
| Protein | NP_689918, 22749407 |
| Product | DNA-directed RNA polymerases I and III subunit RPAC2 isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001206559, 330864728 |
| Protein | NP_001193488, 330864729 |
| Product | DNA-directed RNA polymerases I and III subunit RPAC2 isoform 3 |
| RefSeq Status | REVIEWED |
| hsa00240 | Pyrimidine metabolism |
| hsa03020 | RNA polymerase |
| hsa00230 | Purine metabolism |
| hsa04623 | Cytosolic DNA-sensing pathway |
| hsa01100 | Metabolic pathways |
WikiPathways
| WP231 | TNF-alpha/NF-kB Signaling Pathway |
| WP405 | Eukaryotic Transcription Initiation |
Reactome
| REACT_1974 | RNA Polymerase I Promoter Clearance |
| REACT_953 | RNA Polymerase I Transcription Initiation |
| REACT_2204 | RNA Polymerase I Chain Elongation |
| REACT_1309 | RNA Polymerase I Transcription |
| REACT_1913 | RNA Polymerase I Promoter Escape |
| REACT_1074 | RNA Polymerase I Transcription Termination |
| REACT_21352 | RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription |
| REACT_1788 | Transcription |
| Homo sapiens (human) | POLR1D | NP_057056.1 |
| Bos taurus (cattle) | POLR1D | NP_001069612.1 |
| Mus musculus (house mouse) | Polr1d | NP_033113.1 |
| Gallus gallus (chicken) | POLR1D | XP_426271.2 |
| Danio rerio (zebrafish) | zgc:136449 | NP_001003888.1 |
| ID | Name | Evidence |
| GO:0006360 | transcription from RNA polymerase I promoter | TAS |
| GO:0006361 | transcription initiation from RNA polymerase I promoter | TAS |
| GO:0006362 | transcription elongation from RNA polymerase I promoter | TAS |
| GO:0006363 | termination of RNA polymerase I transcription | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005654 | nucleoplasm | EXP |
| GO:0005654 | nucleoplasm | TAS |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | IEA |
| GO:0003899 | DNA-directed RNA polymerase activity | IEA |
| GO:0046983 | protein dimerization activity | IEA |
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