POLR1C cdna clone
POLR1C cDNA Clone
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. 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]
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: Transcription initiation complex; Nucleotide Metabolism - pyrimidine; Nucleotide Metabolism - purine; Transferase; EC 2.7.7.6
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
Research Articles on POLR1C
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Product Notes
The POLR1C polr1c (Catalog #AAA1268317) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggcggctt ctcaggcggt ggaggaaatg cggagccgcg tggttctggg ggagtttggg gttcgcaatg tccatactac tgactttccc ggtaactatt ccggttatga tgatgcctgg gaccaggacc gcttcgagaa gaatttccgt gtggatgtag tacacatgga tgaaaactca ctggagtttg acatggtggg aattgacgca gccattgcca atgcttttcg acgaattctg ctagctgagg tgccaactat ggctgtggag aaggtcctgg tgtacaataa tacatccatt gttcaggatg agattcttgc tcaccgtctg gggctcattc ccattcatgc tgatccccgt ctttttgagt atcggaacca aggagatgaa gaaggcacag agatagatac tctacagttt cgtctccagg tcagatgcac tcggaacccc catgctgcta aagattcctc tgaccccaac gaactgtacg tgaaccacaa agtgtatacc aggcatatga catggatccc cctggggaac caggctgatc tctttccaga gggcactatc cgaccagtgc atgatgatat cctcatcgct cagctgcggc ctggccaaga aattgacctg ctcatgcact gtgtcaaggg cattggcaaa gatcatgcca agttttcacc agtggcaaca gccagttaca ggctcctgcc agacatcacc ctgcttgagc ccgtggaagg ggaggcagct gaggagttga gcaggtgctt ctcacctggt gttattgagg tgcaggaagt ccaaggtaaa aaggtggcca gagttgccaa cccccggctg gataccttca gcagagaaat cttccggaat gagaagctaa agaaggttgt gaggcttgcc cgggttcgag atcattatat cttctctgtt gagtcaacgg gggtgttgcc accagatgtg ctggtgagtg aagccatcaa agtactgatg gggaagtgcc ggcgcttctt ggatgaacta gatgcggttc agatggactg a. It is sometimes possible for the material contained within the vial of "POLR1C, cDNA Clone" 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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