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RPA40 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft. Defects in POLR1C are the cause of Treacher Collins syndrome type 3 (TCS3). 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 RpoD/eukaryotic RPB3 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: EC; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Transcription initiation complex; Transferase
Chromosomal Location of Human Ortholog: 6p21.1
Cellular Component: cytosol; DNA-directed RNA polymerase I complex; DNA-directed RNA polymerase III complex; nucleoplasm; nucleus
Molecular Function: DNA-directed RNA polymerase activity; protein binding
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 I promoter; transcription initiation from RNA polymerase I promoter
Disease: Leukodystrophy, Hypomyelinating, 11; Treacher Collins Syndrome 3
Reference #:  O15160 (UniProtKB)
Alt. Names/Synonyms: AC40; DNA-directed RNA polymerase I subunit C; DNA-directed RNA polymerases I and III 40 kDa polypeptide; DNA-directed RNA polymerases I and III subunit RPAC1; POLR1C; POLR1E; polymerase (RNA) I polypeptide C, 30kDa; RNA polymerase I subunit; RNA polymerases I and III subunit AC1; RPA39; RPA40; RPA5; RPAC1; RPC40
Gene Symbols: POLR1C
Molecular weight: 39,250 Da
Basal Isoelectric point: 5.31  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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