Human polymerase (RNA) I polypeptide C, 30kDa ELISA Kit | POLR1C elisa kit
Human DNA-directed RNA polymerases I and III subunit RPAC1, POLR1C ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. Defects in this gene have been associated with Treacher Collins syndrome (TCS). [provided by RefSeq, Mar 2011]
Uniprot Description
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; Transcription initiation complex; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Transferase
Chromosomal Location of Human Ortholog: 6p21.1
Cellular Component: nucleoplasm; DNA-directed RNA polymerase III complex; cytosol; DNA-directed RNA polymerase I complex
Molecular Function: protein dimerization activity; DNA binding; DNA-directed RNA polymerase activity
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; innate immune response; RNA elongation from RNA polymerase I promoter; transcription from RNA polymerase I promoter; 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
Disease: Leukodystrophy, Hypomyelinating, 11; Treacher Collins Syndrome 3
Research Articles on POLR1C
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Product Notes
The Human POLR1C polr1c (Catalog #AAA9339436) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9339436 ELISA Kit recognizes Human POLR1C. It is sometimes possible for the material contained within the vial of "polymerase (RNA) I polypeptide C, 30kDa, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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