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POLR1D DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. Defects in POLR1D are the cause of Treacher Collins syndrome type 2 (TCS2). A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine
Chromosomal Location of Human Ortholog: 13q12.2
Cellular Component: cytosol; DNA-directed RNA polymerase I complex; DNA-directed RNA polymerase III complex; nucleoplasm
Molecular Function: DNA binding; protein binding; protein dimerization activity
Biological Process: positive regulation of gene expression, epigenetic; positive regulation of interferon type I production; RNA elongation from RNA polymerase I promoter; termination of RNA polymerase I transcription; transcription from RNA polymerase III promoter; transcription initiation from RNA polymerase I promoter
Reference #:  Q9Y2S0 (UniProtKB)
Alt. Names/Synonyms: AC19; DNA-directed RNA polymerase I subunit D; DNA-directed RNA polymerases I and III subunit RPAC2; FLJ20616; hRPA19; MGC9850; POLR1C; POLR1D; polymerase (RNA) I polypeptide D, 16kDa; RNA polymerase I 16 kDa subunit; RNA polymerases I and III subunit AC2; RPA16; RPA9; RPAC2; RPC16; RPO1-3
Gene Symbols: POLR1D
Molecular weight: 15,237 Da
Basal Isoelectric point: 5.55  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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