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ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_004320 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. Full Length $1249.50
ORF Sequence $865.65
NM_173201 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. Full Length $1234.80
ORF Sequence $1052.10


Gene Symbol ATP2A1
Entrez Gene ID 487
Full Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms ATP2A, SERCA1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p12.1
Summary 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 two transcript variants encoding different isoforms. [provided by RefSeq].
Disorder

MIM: 108730

Brody myopathy, 601003 (3)
mRNA NM_004320, 299829200
Protein NP_004311, 10835220
Product sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b
RefSeq Status REVIEWED
mRNA NM_173201, 299829201
Protein NP_775293, 27886529
Product sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a
RefSeq Status REVIEWED
KEGG
hsa04972Pancreatic secretion
hsa05010Alzheimer's disease
hsa04020Calcium signaling pathway
Reactome
REACT_604Hemostasis
REACT_23876Platelet homeostasis
REACT_25149Ion transport by P-type ATPases
REACT_20Formation of Platelet plug
REACT_798Platelet Activation
REACT_25300Ion channel transport
REACT_15518Transmembrane transport of small molecules
REACT_23905Platelet calcium homeostasis
REACT_23765Reduction of cytosolic Ca++ levels
Homo sapiens (human)ATP2A1NP_775293.1
Pan troglodytes (chimpanzee)ATP2A1XP_001142958.1
Canis lupus familiaris (dog)ATP2A1XP_859903.1
Bos taurus (cattle)ATP2A1NP_001069235.1
Mus musculus (house mouse)Atp2a1NP_031530.2
Danio rerio (zebrafish)atp2a1NP_001007030.1
Danio rerio (zebrafish)atp2a1lNP_001071001.1
Drosophila melanogaster (fruit fly)Ca-P60ANP_726387.1
Caenorhabditis eleganssca-1NP_499386.1
Arabidopsis thaliana (thale cress)ECA3NP_563860.1
Process
IDNameEvidence
GO:0006200ATP catabolic processISS
GO:0006754ATP biosynthetic processIEA
GO:0006812cation transportIEA
GO:0006816calcium ion transportIDA
GO:0006816calcium ion transportIMP
GO:0006942regulation of striated muscle contractionIMP
GO:0007596blood coagulationTAS
GO:0008637apoptotic mitochondrial changesIMP
GO:0030168platelet activationTAS
GO:0031448positive regulation of fast-twitch skeletal muscle fiber contractionIDA
GO:0032470elevation of endoplasmic reticulum calcium ion concentrationIMP
GO:0032471reduction of endoplasmic reticulum calcium ion concentrationIMP
GO:0034220ion transmembrane transportEXP
GO:0034220ion transmembrane transportTAS
GO:0034976response to endoplasmic reticulum stressIMP
GO:0045988negative regulation of striated muscle contractionIMP
GO:0051561elevation of mitochondrial calcium ion concentrationIMP
GO:0051659maintenance of mitochondrion locationIMP
GO:0055085transmembrane transportTAS
GO:0070059apoptosis in response to endoplasmic reticulum stressIMP
GO:0070509calcium ion importIMP
GO:0090076relaxation of skeletal muscleIDA
Component
IDNameEvidence
GO:0005789endoplasmic reticulum membraneIDA
GO:0005789endoplasmic reticulum membraneTAS
GO:0005792microsomeIMP
GO:0005793ER-Golgi intermediate compartmentISS
GO:0016020membraneIEA
GO:0016020membraneISS
GO:0016021integral to membraneNAS
GO:0016529sarcoplasmic reticulumISS
GO:0016529sarcoplasmic reticulumNAS
GO:0031095platelet dense tubular network membraneTAS
GO:0031673H zoneIDA
GO:0031674I bandIDA
GO:0033017sarcoplasmic reticulum membraneIC
GO:0033017sarcoplasmic reticulum membraneTAS
GO:0034704calcium channel complexIC
GO:0048471perinuclear region of cytoplasmISS
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0005388calcium-transporting ATPase activityIDA
GO:0005388calcium-transporting ATPase activityTAS
GO:0005509calcium ion bindingIMP
GO:0005509calcium ion bindingISS
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0005524ATP bindingISS
GO:0016787hydrolase activityIEA
GO:0042803protein homodimerization activityIPI
GeneCards ATP2A1
UniProt O14983, Q7Z675
MIM 108730
Ensembl ENSG00000196296
HGNC 811
HPRD 00157

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