DNA-Directed RNA Polymerases I and III Subunit RPAC2 (POLR1D) Human Recombinant Protein

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]

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.

Protein type: Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine

Chromosomal Location of Human Ortholog: 13q12.2

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

Molecular Function: protein dimerization activity; DNA binding

Biological Process: transcription from RNA polymerase III promoter; termination of RNA polymerase III transcription; negative regulation of gene expression, epigenetic; positive regulation of interferon type I production; transcription from RNA polymerase I promoter; RNA elongation from RNA polymerase I promoter; innate immune response; gene expression; transcription initiation from RNA polymerase I promoter; termination of RNA polymerase I transcription; regulation of gene expression, epigenetic; RNA elongation from RNA polymerase III promoter