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Genetics Home Reference: your guide to understanding genetic conditions
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ATP gene family

Reviewed May 2012

What are the ATP genes?

Genes in the ATP gene family provide instructions for making transporter proteins called ATPases. ATPases carry many types of molecules, such as fats, sugars, protein building blocks (amino acids), charged atoms or molecules (ions), and drugs, across cell membranes. In most cases, the transporters move the molecules into specific cell compartments so they can be processed, or out of the cell so they can be used elsewhere or excreted from the body. If the molecules are not transported properly, they may be unavailable where they are needed for body functions. The molecules can also build up over time and damage the cells.

ATPases are made in many tissues of the body, where they use energy from a molecule called ATP to move substances across the cell membranes. They are grouped together because they all have common regions (domains) that bind to ATP. Most ATPases break down ATP to provide energy for molecule transport.

The ATPase gene family is sometimes called a superfamily because all the members have related structures or functions. Within this superfamily are four subfamilies that are distinguished by their location within the cell and how they transport molecules. The P-type of ATPases transport ions such as calcium, potassium, sodium, copper, and hydrogen into and out of the cell. The movement of these ions into and out of cells controls many functions such as muscle movement and protein production. The F-types are located on the membranes of the energy-producing centers within cells (mitochondria), and instead of breaking down ATP to transport molecules, these ATPases make ATP. Because the F-type ATPases produce ATP, they are called ATP synthases. The V-types are located on the membranes of compartments in the cell that digest and recycle materials (lysosomes), where they transport hydrogen ions. Through this action, these ATPases play a role in moving proteins between cells, releasing chemical messengers (neurotransmitters), and a variety of other cell functions. The ATP-binding cassette (ABC) types are located on the cell membrane and transport a variety of molecules, fats, sugars, and proteins into and out of the cell. These substances are needed for proper cell functioning.

Most ATPase genes are designated by the letters ATP and an additional number and a letter indicating the subgroup to which they belong. The subgroup designation is based on their structure and similarity to other transporters in the gene family. They also receive a number to designate the specific gene within the subgroup. For example, ATP2A2 is gene 2 in the 2A subgroup of ATPases. Some proteins are named according to their subfamily grouping, for example ABCD1.

Which genes are included in the ATP gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the ATP family (http://www.genenames.org/genefamilies/ATP).

Genetics Home Reference summarizes the normal function and health implications of these members of the ATP gene family: ABCA1, ABCA12, ABCB4, ABCB7, ABCB11, ABCC2, ABCC6, ABCD1, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B2, ATP2C1, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, BCS1L, CFTR, ORC1, ORC4, and TCIRG1.

What conditions are related to genes in the ATP gene family?

Genetics Home Reference includes these conditions related to genes in the ATP gene family:

  • alternating hemiplegia of childhood
  • benign chronic pemphigus
  • benign recurrent intrahepatic cholestasis
  • Björnstad syndrome
  • Brody myopathy
  • congenital bilateral absence of the vas deferens
  • cutis laxa
  • cystic fibrosis
  • Darier disease
  • Dubin-Johnson syndrome
  • familial HDL deficiency
  • familial hemiplegic migraine
  • GRACILE syndrome
  • harlequin ichthyosis
  • hereditary pancreatitis
  • intrahepatic cholestasis of pregnancy
  • lamellar ichthyosis
  • Meier-Gorlin syndrome
  • Menkes syndrome
  • mitochondrial complex III deficiency
  • nonsyndromic deafness
  • osteopetrosis
  • progressive familial intrahepatic cholestasis
  • pseudoxanthoma elasticum
  • rapid-onset dystonia parkinsonism
  • renal tubular acidosis with deafness
  • sporadic hemiplegic migraine
  • Tangier disease
  • Wilson disease
  • X-linked adrenoleukodystrophy
  • X-linked sideroblastic anemia and ataxia

Where can I find additional information about the ATP gene family?

You may find the following resources about the ATP gene family helpful.

  • Molecular Cell Biology (fourth edition, 2000): Comparison of Major Classes of ATP-Powered Ion and Small-Molecule Pumps (http://www.ncbi.nlm.nih.gov/books/NBK21481/table/A4071/)
  • Molecular Cell Biology (fourth edition, 2000): Active Transport by ATP-Powered Pumps (http://www.ncbi.nlm.nih.gov/books/NBK21481/)
  • Molecular Cell Biology (fourth edition, 2000): The ATP cycle (http://www.ncbi.nlm.nih.gov/books/NBK21737/figure/A364/)
  • Molecular Cell Biology (fourth edition, 2000): The four classes of ATP-powered transport proteins (http://www.ncbi.nlm.nih.gov/books/NBK21481/figure/A4072/)

What glossary definitions help with understanding the ATP gene family?

acids ; ATP ; Ca ; calcium ; cardiac ; cell ; cell membrane ; class ; fibrosis ; gene ; hydrogen ions ; ions ; mitochondria ; molecule ; Na ; neurotransmitters ; plasma ; plasma membrane ; potassium ; protein ; sodium ; subunit ; synthesis ; transmembrane

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

References

These sources were used to develop the Genetics Home Reference summary for the ATP gene family.

  • Pedersen PL. Transport ATPases into the year 2008: a brief overview related to types, structures, functions and roles in health and disease. J Bioenerg Biomembr. 2007 Dec;39(5-6):349-55. doi: 10.1007/s10863-007-9123-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18175209?dopt=Abstract)
  • Dunbar LA, Caplan MJ. Ion pumps in polarized cells: sorting and regulation of the Na+, K+- and H+, K+-ATPases. J Biol Chem. 2001 Aug 10;276(32):29617-20. Epub 2001 Jun 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11404365?dopt=Abstract)
  • Davidson AL, Maloney PC. ABC transporters: how small machines do a big job. Trends Microbiol. 2007 Oct;15(10):448-55. Epub 2007 Oct 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17920277?dopt=Abstract)
  • Apell HJ. How do P-type ATPases transport ions? Bioelectrochemistry. 2004 Jun;63(1-2):149-56. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15110265?dopt=Abstract)
  • Pierre SV, Xie Z. The Na,K-ATPase receptor complex: its organization and membership. Cell Biochem Biophys. 2006;46(3):303-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17272855?dopt=Abstract)
  • Basic Neurochemistry (sixth edition, 1999): Membrane-transport processes store energy, whereas channel-mediated processes dissipate energy (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=bnchm&part=A328)
  • Biochemistry (fifth edition, 2002): A Family of Membrane Proteins Uses ATP Hydrolysis to Pump Ions Across Membranes (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=stryer&part=A1778)

 

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: May 2012
Published: October 20, 2014