Version: 8.0.0
Date: Tue Jan 28 2025
ATP2A1
Homo sapiensHGNC:811
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ATP2A1

Species
Homo sapiens
Symbol
ATP2A1
Name
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
Synonyms
  • ATP2A
  • ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Biotype
protein coding gene
Automated Description
Enables P-type calcium transporter activity; calcium ion binding activity; and protein homodimerization activity. Involved in several processes, including intracellular calcium ion homeostasis; maintenance of mitochondrion location; and regulation of striated muscle contraction. Located in H zone; I band; and endoplasmic reticulum membrane. Implicated in Brody myopathy.
RGD Description
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR42861
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          ATP2A1 molecule type
          Interactor gene
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            Genetic Interactions

            ATP2A1 role
            ATP2A1 genetic perturbation
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