POLR1C Antibody – Rabbit Polyclonal

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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.

Protein type: EC 2.7.7.6; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Transcription initiation complex; Transferase

Chromosomal Location of Human Ortholog: 6p21.1

Cellular Component: cytosol; DNA-directed RNA polymerase III complex; nucleoplasm

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