CIRH1A

Reviewed March 2011

What is the official name of the CIRH1A gene?

The official name of this gene is “cirrhosis, autosomal recessive 1A (cirhin).”

CIRH1A is the gene's official symbol. The CIRH1A gene is also known by other names, listed below.

What is the normal function of the CIRH1A gene?

The CIRH1A gene provides instructions for making a protein called cirhin, whose precise function is unknown. This protein is found in many different tissues and organs. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA.

Studies also suggest that cirhin interacts with other proteins, and it may function as part of a protein complex (a group of proteins that work together). The significance of these protein interactions is unknown.

How are changes in the CIRH1A gene related to health conditions?

North American Indian childhood cirrhosis - caused by mutations in the CIRH1A gene: At least one mutation in the CIRH1A gene has been found to cause North American Indian childhood cirrhosis, a chronic liver disease identified in a Native American population in Quebec. The known mutation replaces the amino acid arginine with the amino acid tryptophan at protein position 565 (written as Arg565Trp or R565W). This genetic change likely alters the structure and function of cirhin. However, it is unclear why the effects of the CIRH1A gene mutation are limited to the liver or how they cause the progressive liver damage characteristic of this disorder.

Where is the CIRH1A gene located?

Cytogenetic Location: 16q22.1

Molecular Location on chromosome 16: base pairs 69,166,498 to 69,202,936

The CIRH1A gene is located on the long (q) arm of chromosome 16 at position 22.1.

More precisely, the CIRH1A gene is located from base pair 69,166,498 to base pair 69,202,936 on chromosome 16.

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 CIRH1A?

You and your healthcare professional may find the following resources about CIRH1A helpful.

Educational resources - Information pages
The Cell: A Molecular Approach (second edition, 2000): The Nucleolus (http://www.ncbi.nlm.nih.gov/books/NBK9939/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CIRH1A (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=84916%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=(CIRH1A%5BTIAB%5D)%20OR%20(cirhin%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/607456)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/84916)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=84916)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1983)

What other names do people use for the CIRH1A gene or gene products?

CIR1A_HUMAN
cirhin
FLJ14728
FLJ17146
KIAA1988
NAIC
testis expressed gene 292
TEX292
UTP4

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 CIRH1A?

acids ; amino acid ; autosomal ; autosomal recessive ; chronic ; cirrhosis ; DNA ; expressed ; gene ; molecule ; mutation ; nucleolus ; nucleus ; population ; protein ; recessive ; ribosomal RNA ; RNA ; testis

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

References

Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet. 2000 Jul;67(1):222-8. Epub 2000 May 11. (http://www.ncbi.nlm.nih.gov/pubmed/10820129?dopt=Abstract)
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002 Dec;71(6):1443-9. Epub 2002 Nov 4. (http://www.ncbi.nlm.nih.gov/pubmed/12417987?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/84916)
Freed EF, Baserga SJ. The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic Acids Res. 2010 Aug;38(14):4798-806. doi: 10.1093/nar/gkq185. Epub 2010 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/20385600?dopt=Abstract)
Yu B, Mitchell GA, Richter A. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp Cell Res. 2009 Nov 1;315(18):3086-98. doi: 10.1016/j.yexcr.2009.08.017. Epub 2009 Sep 2. (http://www.ncbi.nlm.nih.gov/pubmed/19732766?dopt=Abstract)
Yu B, Mitchell GA, Richter A. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res. 2005 Dec 10;311(2):218-28. Epub 2005 Oct 12. (http://www.ncbi.nlm.nih.gov/pubmed/16225863?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.



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