ATP2A1

Reviewed January 2012

What is the official name of the ATP2A1 gene?

The official name of this gene is “ATPase, Ca++ transporting, cardiac muscle, fast twitch 1.”

ATP2A1 is the gene's official symbol. The ATP2A1 gene is also known by other names, listed below.

What is the normal function of the ATP2A1 gene?

The ATP2A1 gene provides instructions for making an enzyme called sarco(endo)plasmic reticulum calcium-ATPase 1 (SERCA1). This enzyme belongs to a family of ATPase enzymes that help control the level of positively charged calcium atoms (calcium ions) inside cells. The SERCA1 enzyme is found in skeletal muscle cells. (Skeletal muscles are the muscles used for movement.) Within muscle cells, the SERCA1 enzyme is located in the membrane of a structure called the sarcoplasmic reticulum. This structure plays a major role in muscle contraction and relaxation by storing and releasing calcium ions. When calcium ions are transported out of the sarcoplasmic reticulum, muscles contract; when calcium ions are transported into the sarcoplasmic reticulum, muscles relax. The SERCA1 enzyme transports calcium ions from the cell into the sarcoplasmic reticulum, triggering muscle relaxation.

Does the ATP2A1 gene share characteristics with other genes?

The ATP2A1 gene belongs to a family of genes called ATP (ATPase superfamily).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ATP2A1 gene related to health conditions?

Brody myopathy - caused by mutations in the ATP2A1 gene: At least 10 mutations in the ATP2A1 gene have been found to cause Brody myopathy, a muscle disorder characterized by muscle cramping after exercise. Most ATP2A1 gene mutations lead to a premature stop signal in the instructions for making the SERCA1 enzyme, resulting in a nonfunctional enzyme. Other mutations lead to the production of a SERCA1 enzyme with decreased function. As a result, calcium ions are slow to enter the sarcoplasmic reticulum and muscle relaxation is delayed. After exercise or other strenuous activity, during which the muscles rapidly contract and relax, people with Brody myopathy develop muscle cramps because their muscles cannot fully relax. Scientists believe that other proteins or other pathways may function in the absence of a fully functional SERCA1 enzyme to transport calcium ions into the sarcoplasmic reticulum and help with muscle relaxation.

Where is the ATP2A1 gene located?

Cytogenetic Location: 16p12.1

Molecular Location on chromosome 16: base pairs 28,889,808 to 28,915,829

The ATP2A1 gene is located on the short (p) arm of chromosome 16 at position 12.1.

More precisely, the ATP2A1 gene is located from base pair 28,889,808 to base pair 28,915,829 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 ATP2A1?

You and your healthcare professional may find the following resources about ATP2A1 helpful.

Educational resources - Information pages
Washington University, St. Louis: Neuromuscular Disease Center: Brody's Disease (http://neuromuscular.wustl.edu/mother/activity.html)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ATP2A1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=487%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=(ATP2A1%5BTIAB%5D)%20OR%20(SERCA1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202880%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/108730)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ATP2A1.html)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/487)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=487)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=811)
- Leiden Open Variation Database (https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ATP2A1)

What other names do people use for the ATP2A1 gene or gene products?

AT2A1_HUMAN
ATP2A
calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform 1
endoplasmic reticulum class 1 Ca2+ ATPase
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
SERCA1
SR Ca2+ ATPase 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 ATP2A1?

Ca ; calcium ; cardiac ; cell ; class ; contraction ; endoplasmic reticulum ; enzyme ; gene ; ions ; sarcoplasmic reticulum ; skeletal muscle

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

References

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/487)
Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet. 1996 Oct;14(2):191-4. (http://www.ncbi.nlm.nih.gov/pubmed/8841193?dopt=Abstract)
OMIM: ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1 (http://omim.org/entry/108730)
Shull GE, Okunade G, Liu LH, Kozel P, Periasamy M, Lorenz JN, Prasad V. Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants. Ann N Y Acad Sci. 2003 Apr;986:453-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12763865?dopt=Abstract)
Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. doi: 10.1097/NEN.0b013e3181d0f7d5. (http://www.ncbi.nlm.nih.gov/pubmed/20142766?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.