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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001286075 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant c, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_004320 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant a, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_173201 Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol ATP2A1
Entrez Gene ID 487
Full Name ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms ATP2A, SERCA1
General protein information
Preferred Names
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
Names
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
calcium pump 1
SR Ca(2+)-ATPase 1
endoplasmic reticulum class 1/2 Ca(2+) ATPase
calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform
NP_004311.1
NP_775293.1
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 three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013].
Disorder

MIM: 108730

Brody myopathy, 601003 (3)

mRNA Protein Product Sequence Price Select
NM_001286075, 554506570 NP_001273004, 554506571 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform c ORF Sequence $750.00
NM_004320, 299829200 NP_004311, 10835220 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a ORF Sequence $750.00
NM_173201, 299829201 NP_775293, 27886529 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b ORF Sequence $1500.00
KEGG
hsa04020Calcium signaling pathway
hsa05010Alzheimer's disease
hsa04972Pancreatic secretion
hsa04022cGMP-PKG signaling pathway
WikiPathways
WP2059Alzheimers Disease
BIOCYC
HUMAN_PWY-6166calcium transport I
Reactome
REACT_604Hemostasis
REACT_299Signaling by NOTCH
REACT_15518Transmembrane transport of small molecules
REACT_23765Reduction of cytosolic Ca++ levels
REACT_25149Ion transport by P-type ATPases
REACT_25300Ion channel transport
REACT_23876Platelet homeostasis
REACT_23905Platelet calcium homeostasis
REACT_111102Signal Transduction
REACT_118744Pre-NOTCH Expression and Processing
REACT_118798Pre-NOTCH Processing in Golgi
Homo sapiens (human)ATP2A1NP_775293.1
Pan troglodytes (chimpanzee)ATP2A1XP_001142958.3
Canis lupus familiaris (dog)ATP2A1XP_005621437.1
Bos taurus (cattle)ATP2A1NP_001069235.1
Mus musculus (house mouse)Atp2a1NP_031530.2
Rattus norvegicus (Norway rat)Atp2a1NP_478120.1
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
Xenopus (Silurana) tropicalis (western clawed frog)atp2a1NP_001027498.1
Process
IDNameEvidence
GO:0006200ATP catabolic processISS
GO:0006816calcium ion transportIDA
GO:0006816calcium ion transportIMP
GO:0006942regulation of striated muscle contractionIMP
GO:0007596blood coagulationTAS
GO:0008152metabolic processIEA
GO:0008637apoptotic mitochondrial changesIMP
GO:0031448positive regulation of fast-twitch skeletal muscle fiber contractionIDA
GO:0032470positive regulation of endoplasmic reticulum calcium ion concentrationIMP
GO:0032471negative regulation of endoplasmic reticulum calcium ion concentrationIMP
GO:0034220ion transmembrane transportTAS
GO:0034976response to endoplasmic reticulum stressIMP
GO:0045988negative regulation of striated muscle contractionIMP
GO:0051561positive regulation of mitochondrial calcium ion concentrationIMP
GO:0051659maintenance of mitochondrion locationIMP
GO:0055085transmembrane transportTAS
GO:0070059intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressIMP
GO:0070509calcium ion importIMP
GO:0070588calcium ion transmembrane transportIDA
GO:0090076relaxation of skeletal muscleIDA
Component
IDNameEvidence
GO:0005789endoplasmic reticulum membraneIDA
GO:0005789endoplasmic reticulum membraneTAS
GO:0005793endoplasmic reticulum-Golgi intermediate compartmentISS
GO:0016020membraneISS
GO:0016021integral component of 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:0005388calcium-transporting ATPase activityIDA
GO:0005509calcium ion bindingIMP
GO:0005509calcium ion bindingISS
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0005524ATP bindingISS
GO:0042803protein homodimerization activityIPI
GeneCards ATP2A1
UniProt O14983, Q7Z675
Vega OTTHUMG00000131760
MIM 108730
Ensembl ENSG00000196296
HGNC 811
HPRD 00157

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

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