NP_001193488.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
42.2 kDa
NCBI Official Full Name
DNA-directed RNA polymerases I and III subunit RPAC2 isoform 3
NCBI Official Synonym Full Names
polymerase (RNA) I polypeptide D, 16kDa
NCBI Official Synonym Symbols
AC19; RPA9; TCS2; RPA16; RPAC2; RPC16; POLR1C; RPO1-3 [Similar Products]
NCBI Protein Information
DNA-directed RNA polymerases I and III subunit RPAC2; RNA polymerases I and III subunit AC2; DNA-directed RNA polymerase I subunit D
UniProt Protein Name
DNA-directed RNA polymerases I and III subunit RPAC2
UniProt Synonym Protein Names
AC19; DNA-directed RNA polymerase I subunit D; RNA polymerase I 16 kDa subunit; RPA16; RPC16; hRPA19
UniProt Synonym Gene Names
UniProt Entry Name
RPAC2_HUMAN
NCBI Summary for POLR1D
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]
UniProt Comments for POLR1D
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
Research Articles on POLR1D
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Products associated with POLR1D recombinant protein
Pathways associated with POLR1D recombinant protein
Diseases associated with POLR1D recombinant protein
Organs/Tissues associated with POLR1D recombinant protein
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