Reviewed January 2010
What is the official name of the PRKAR1A gene?
The official name of this gene is “protein kinase, cAMP-dependent, regulatory, type I, alpha.”
PRKAR1A is the gene's official symbol. The PRKAR1A gene is also known by other names, listed below.
What is the normal function of the PRKAR1A gene?
The PRKAR1A gene provides instructions for making one part (subunit) of an enzyme called protein kinase A. This enzyme promotes cell growth and division (proliferation). Protein kinase A is made up of four protein subunits, two of which are called regulatory subunits because they control whether this enzyme is turned on or off. The PRKAR1A gene provides instructions for making one of these regulatory subunits, called type 1 alpha. Protein kinase A remains turned off when the regulatory subunits are attached to the other two subunits of the enzyme. In order to turn on protein kinase A, the regulatory subunits must break away from the enzyme.
How are changes in the PRKAR1A gene related to health conditions?
- Carney complex - caused by mutations in the PRKAR1A gene
More than 117 mutations in the PRKAR1A gene have been found to cause Carney complex. Most of these mutations result in an abnormal type 1 alpha regulatory subunit that is quickly broken down (degraded) by the cell. The lack of this regulatory subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body.
Where is the PRKAR1A gene located?
Cytogenetic Location: 17q24.2
Molecular Location on chromosome 17: base pairs 68,511,779 to 68,551,315
The PRKAR1A gene is located on the long (q) arm of chromosome 17 at position 24.2.
More precisely, the PRKAR1A gene is located from base pair 68,511,779 to base pair 68,551,315 on chromosome 17.
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 PRKAR1A?
You and your healthcare professional may find the following resources about PRKAR1A helpful.
Educational resources - Information pages
- Biochemistry (fifth edition, 2002): Cyclic AMP Activates Protein Kinase A by Altering the Quaternary Structure (http://www.ncbi.nlm.nih.gov/books/NBK22399/)
- The Cell, A Molecular Approach (second edition, 2000): Regulation of Protein Kinase A (http://www.ncbi.nlm.nih.gov/books/NBK9870/?rendertype=figure&id=A2237)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1286/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for PRKAR1A (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5573%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=(PRKAR1A%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/188830)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PRKAR1A.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=5573)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=9388)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5573)
What other names do people use for the PRKAR1A gene or gene products?
- cAMP-dependent protein kinase regulatory subunit RIalpha
- cAMP-dependent protein kinase type I-alpha regulatory chain
- protein kinase A type 1a regulatory subunit
- protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
- tissue-specific extinguisher 1
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 PRKAR1A?
cell proliferation ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17. (http://www.ncbi.nlm.nih.gov/pubmed/19293268?dopt=Abstract)
- Gene Review: Carney Complex (http://www.ncbi.nlm.nih.gov/books/NBK1286/)
- Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155. (http://www.ncbi.nlm.nih.gov/pubmed/18223213?dopt=Abstract)
- Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep;26(1):89-92. (http://www.ncbi.nlm.nih.gov/pubmed/10973256?dopt=Abstract)
- Kirschner LS. Use of mouse models to understand the molecular basis of tissue-specific tumorigenesis in the Carney complex. J Intern Med. 2009 Jul;266(1):60-8. doi: 10.1111/j.1365-2796.2009.02114.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19522826?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5573)
- OMIM: PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA (http://omim.org/entry/188830)
- Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. J Clin Endocrinol Metab. 2010 Jan;95(1):338-42. doi: 10.1210/jc.2009-0993. Epub 2009 Nov 13. (http://www.ncbi.nlm.nih.gov/pubmed/19915019?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.