Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

POLR1C

Reviewed June 2012

What is the official name of the POLR1C gene?

The official name of this gene is “polymerase (RNA) I polypeptide C, 30kDa.”

POLR1C is the gene's official symbol. The POLR1C gene is also known by other names, listed below.

What is the normal function of the POLR1C gene?

The POLR1C gene provides instructions for making one part (subunit) of two related enzymes called RNA polymerase I and RNA polymerase III. These enzymes are involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. Both enzymes help synthesize a form of RNA known as ribosomal RNA (rRNA). RNA polymerase III also plays a role in the synthesis of several other forms of RNA, including transfer RNA (tRNA). Ribosomal RNA and transfer RNA assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells.

Based on its involvement in Treacher Collins syndrome (described below), the POLR1C gene appears to play a critical role in the early development of structures that become bones and other tissues of the face.

How are changes in the POLR1C gene related to health conditions?

Treacher Collins syndrome - caused by mutations in the POLR1C gene

At least six mutations in the POLR1C gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face. These mutations appear to alter the structure and function of the POLR1C protein, which reduces the amount of functional RNA polymerase I and RNA polymerase III in cells. Consequently, less rRNA is produced. Researchers speculate that a shortage of rRNA may trigger the self-destruction (apoptosis) of certain cells involved in the early development of facial bones and tissues. The abnormal cell death could underlie the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.

Where is the POLR1C gene located?

Cytogenetic Location: 6p21.1

Molecular Location on chromosome 6: base pairs 43,484,776 to 43,489,250

The POLR1C gene is located on the short (p) arm of chromosome 6 at position 21.1.

The POLR1C gene is located on the short (p) arm of chromosome 6 at position 21.1.

More precisely, the POLR1C gene is located from base pair 43,484,776 to base pair 43,489,250 on chromosome 6.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about POLR1C?

You and your healthcare professional may find the following resources about POLR1C helpful.

  • Educational resources - Information pages

    • Biochemistry (fifth edition, 2002): RNA in Eukaryotic Cells Is Synthesized by Three Types of RNA Polymerase (http://www.ncbi.nlm.nih.gov/books/NBK22433/)
    • Molecular Cell Biology (fourth edition, 2000): The Three Roles of RNA in Protein Synthesis (http://www.ncbi.nlm.nih.gov/books/NBK21603/)
    • The Cell: A Molecular Approach (second edition, 2000): Eukaryotic RNA Polymerases (http://www.ncbi.nlm.nih.gov/books/NBK9935/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1532/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for POLR1C (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9533%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(POLR1C%5BTIAB%5D)%20OR%20((RPA5%5BTIAB%5D)%20OR%20(TCS3%5BTIAB%5D)%20OR%20(RPA40%5BTIAB%5D)%20OR%20(RPAC1%5BTIAB%5D)%20OR%20(AC40%5BTIAB%5D)%20OR%20(RPC40%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/610060)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/9533)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=9533)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=20194)

What other names do people use for the POLR1C gene or gene products?

  • AC40
  • DNA-directed RNA polymerase I subunit C
  • DNA-directed RNA polymerases I and III 40 kDa polypeptide
  • DNA-directed RNA polymerases I and III subunit RPAC1
  • RNA polymerases I and III subunit AC1
  • RPA5
  • RPA39
  • RPA40
  • RPAC1
  • RPAC1_HUMAN
  • RPC40

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding POLR1C?

acids ; apoptosis ; cell ; DNA ; DNA-directed RNA polymerase ; gene ; neural crest ; protein ; ribonucleic acid ; ribosomal RNA ; ribosomes ; RNA ; RNA polymerase ; subunit ; syndrome ; synthesis ; transfer RNA ; tRNA

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. (http://www.ncbi.nlm.nih.gov/pubmed/21131976?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/9533)
  • Fisher E. Exploring the genetic origins of Treacher Collins syndrome. Clin Genet. 2011 Apr;79(4):330-2. doi: 10.1111/j.1399-0004.2011.01632.x. Epub 2011 Feb 7. (http://www.ncbi.nlm.nih.gov/pubmed/21261602?dopt=Abstract)
  • Gene Review: Treacher Collins Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1532/)
  • Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8175-80. (http://www.ncbi.nlm.nih.gov/pubmed/9653160?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2012
Published: May 20, 2013