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Aliases for ATP2A1 Gene

Aliases for ATP2A1 Gene

  • ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1 2 3
  • Calcium Pump 1 2 3 4
  • SERCA1 3 4 6
  • Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch Skeletal Muscle Isoform 3 4
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 1 2 3
  • Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
  • SR Ca(2+)-ATPase 1 3 4
  • EC 3.6.3.8 4 63
  • EC 3.6.3 63
  • ATP2A 3

External Ids for ATP2A1 Gene

Previous HGNC Symbols for ATP2A1 Gene

  • ATP2A

Previous GeneCards Identifiers for ATP2A1 Gene

  • GC16U990002
  • GC16P029213
  • GC16P028888
  • GC16P028927
  • GC16P028798
  • GC16P026757

Summaries for ATP2A1 Gene

Entrez Gene Summary for ATP2A1 Gene

  • 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]

GeneCards Summary for ATP2A1 Gene

ATP2A1 (ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1) is a Protein Coding gene. Diseases associated with ATP2A1 include brody myopathy and pseudomyotonia. Among its related pathways are Signaling by GPCR and CREB Pathway. GO annotations related to this gene include calcium ion binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2A2.

UniProtKB/Swiss-Prot for ATP2A1 Gene

  • Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction

Tocris Summary for ATP2A1 Gene

  • Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase (PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis, diabetes, and cardiac hypertension and hypertrophy.

Gene Wiki entry for ATP2A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP2A1 Gene

Genomics for ATP2A1 Gene

Regulatory Elements for ATP2A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP2A1 Gene

Start:
28,878,405 bp from pter
End:
28,904,509 bp from pter
Size:
26,105 bases
Orientation:
Plus strand

Genomic View for ATP2A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2A1 Gene

Proteins for ATP2A1 Gene

  • Protein details for ATP2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14983-AT2A1_HUMAN
    Recommended name:
    Sarcoplasmic/endoplasmic reticulum calcium ATPase 1
    Protein Accession:
    O14983
    Secondary Accessions:
    • A8K5J9
    • B3KY17
    • O14984

    Protein attributes for ATP2A1 Gene

    Size:
    1001 amino acids
    Molecular mass:
    110252 Da
    Quaternary structure:
    • Associated with sarcolipin (SLN), phospholamban (PLN) and myoregulin (MLN).

    Alternative splice isoforms for ATP2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP2A1 Gene

Proteomics data for ATP2A1 Gene at MOPED

Post-translational modifications for ATP2A1 Gene

  • Ubiquitination at Lys205, Lys481, and Lys713
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP2A1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATP2A1 (ATP2A1)

Domains for ATP2A1 Gene

Gene Families for ATP2A1 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O14983

UniProtKB/Swiss-Prot:

AT2A1_HUMAN :
  • O14983
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
genes like me logo Genes that share domains with ATP2A1: view

Function for ATP2A1 Gene

Molecular function for ATP2A1 Gene

GENATLAS Biochemistry: sarcoplasmic reticulum,ATPase,Ca++ transporting,transciently expressed,mediating the extrusion of CA2+ from internal stores in the endoplasmic reticulum with two alternatively spliced isoforms,SERCA1A expressed in adult muscle and a minor form SERCA1B in neonatal fibers
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by sarcolipin (SLN), phospholamban (PLN) and myoregulin (MLN). Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN.
UniProtKB/Swiss-Prot Function: Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction
UniProtKB/Swiss-Prot Induction: Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression

Enzyme Numbers (IUBMB) for ATP2A1 Gene

Gene Ontology (GO) - Molecular Function for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005388 calcium-transporting ATPase activity IDA 1329967
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding IPI 9295312
GO:0005524 ATP binding ISS --
genes like me logo Genes that share ontologies with ATP2A1: view
genes like me logo Genes that share phenotypes with ATP2A1: view

Animal Models for ATP2A1 Gene

MGI Knock Outs for ATP2A1:

Animal Model Products

CRISPR Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ATP2A1 Gene

Localization for ATP2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2A1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP2A1 Gene COMPARTMENTS Subcellular localization image for ATP2A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytoskeleton 1
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS --
GO:0016020 membrane ISS --
GO:0016021 integral component of membrane NAS 9405806
GO:0016529 sarcoplasmic reticulum NAS 8841193
genes like me logo Genes that share ontologies with ATP2A1: view

Pathways for ATP2A1 Gene

genes like me logo Genes that share pathways with ATP2A1: view

Pathways by source for ATP2A1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Skeletal Muscle: Myogenesis & Myopathy in human,mouse,rat

Gene Ontology (GO) - Biological Process for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006816 calcium ion transport IMP 9405806
GO:0006942 regulation of striated muscle contraction IMP 9405806
GO:0007596 blood coagulation TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ATP2A1: view

Compounds for ATP2A1 Gene

(5) Tocris Compounds for ATP2A1 Gene

Compound Action Cas Number
Artemisinin Antimalarial; inhibits P-type ATPase (PfATP6) of P.falciparum [63968-64-9]
BHQ Inhibitor of SERCA ATPase [88-58-4]
Cyclopiazonic acid Inhibitor of SERCA ATPase [18172-33-3]
Ochratoxin A Stimulates SERCA-ATP-dependent Ca2+ pump activity [303-47-9]
Thapsigargin Potent inhibitor of SERCA ATPase [67526-95-8]

(2) HMDB Compounds for ATP2A1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4

(6) Novoseek inferred chemical compound relationships for ATP2A1 Gene

Compound -log(P) Hits PubMed IDs
calcium 53.2 30
thapsigargin 43 2
atp 31.4 2
halothane 23 4
triiodothyronine 21.8 2
genes like me logo Genes that share compounds with ATP2A1: view

Transcripts for ATP2A1 Gene

Unigene Clusters for ATP2A1 Gene

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP2A1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP2A1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13: - -

ExUns: 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ATP2A1 Gene

GeneLoc Exon Structure for
ATP2A1
ECgene alternative splicing isoforms for
ATP2A1

Expression for ATP2A1 Gene

mRNA expression in normal human tissues for ATP2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP2A1 Gene

This gene is overexpressed in Muscle - Skeletal (50.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP2A1 Gene

SOURCE GeneReport for Unigene cluster for ATP2A1 Gene Hs.657344

mRNA Expression by UniProt/SwissProt for ATP2A1 Gene

O14983-AT2A1_HUMAN
Tissue specificity: Skeletal muscle, fast twitch muscle (type II) fibers
genes like me logo Genes that share expressions with ATP2A1: view

In Situ Assay Products

Orthologs for ATP2A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2A1 35
  • 98.17 (n)
  • 98.34 (a)
ATP2A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2A1 35
  • 91.47 (n)
  • 95.56 (a)
ATP2A1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2A1 35
  • 91.53 (n)
  • 96.37 (a)
ATP2A1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp2a1 35
  • 89.59 (n)
  • 96.68 (a)
Atp2a1 16
Atp2a1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2A1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A1 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2a1 35
  • 90.23 (n)
  • 96.88 (a)
lizard
(Anolis carolinensis)
Reptilia ATP2A1 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ca-p60a-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a1 35
  • 79.99 (n)
  • 89.22 (a)
Str.6567 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1095 35
zebrafish
(Danio rerio)
Actinopterygii atp2a1 35
  • 77.68 (n)
  • 85.9 (a)
atp2a1 36
  • 85 (a)
OneToMany
atp2a1l 36
  • 84 (a)
OneToMany
zgc55380 35
African malaria mosquito
(Anopheles gambiae)
Insecta ATC1_ANOGA 35
  • 70.18 (n)
  • 72.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 35
  • 70.51 (n)
  • 71.82 (a)
Ca-P60A 36
  • 70 (a)
OneToMany
Ca-P60A 37
  • 71 (a)
worm
(Caenorhabditis elegans)
Secernentea sca-1 35
  • 66.94 (n)
  • 72.8 (a)
sca-1 36
  • 68 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA5 38
PMR1 36
  • 31 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ECA3 35
  • 55.67 (n)
  • 56.36 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4294 35
corn
(Zea mays)
Liliopsida Zm.509 35
rice
(Oryza sativa)
Liliopsida Os03g0730800 35
  • 56.09 (n)
  • 56.72 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03305 35
  • 59.44 (n)
  • 55.21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10300 36
  • 60 (a)
ManyToMany
Species with no ortholog for ATP2A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP2A1 Gene

ENSEMBL:
Gene Tree for ATP2A1 (if available)
TreeFam:
Gene Tree for ATP2A1 (if available)

Paralogs for ATP2A1 Gene

Paralogs for ATP2A1 Gene

genes like me logo Genes that share paralogs with ATP2A1: view

Variants for ATP2A1 Gene

Sequence variations from dbSNP and Humsavar for ATP2A1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1133748 -- 28,892,177(+) ttggt(A/G)acagt intron-variant
rs2071341 -- 28,902,389(+) GGGGT(G/T)AGCTG intron-variant
rs3888190 -- 28,878,165(-) TTCCC(G/T)GAGCC upstream-variant-2KB
rs4072051 -- 28,902,701(+) GAGGG(G/T)GGGGG intron-variant
rs4072052 -- 28,902,703(+) GGGGG(G/T)GGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2A1 Gene

Variant ID Type Subtype PubMed ID
dgv842e1 CNV Complex 17122850
nsv905700 CNV Loss 21882294
nsv905701 CNV Loss 21882294
nsv905702 CNV Gain+Loss 21882294
nsv518648 CNV Loss 19592680
nsv519100 CNV Gain 19592680
esv2674005 CNV Deletion 23128226

Relevant External Links for ATP2A1 Gene

HapMap Linkage Disequilibrium report
ATP2A1
Human Gene Mutation Database (HGMD)
ATP2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2A1 Gene

Disorders for ATP2A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for ATP2A1 Gene including...

Search for ATP2A1 Gene in MalaCards »

(1) OMIM Diseases for ATP2A1 Gene (108730)

UniProtKB/Swiss-Prot

AT2A1_HUMAN
  • Brody myopathy (BRM) [MIM:601003]: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. {ECO:0000269 PubMed:10914677}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ATP2A1 Gene

(1) Novoseek inferred disease relationships for ATP2A1 Gene

Disease -log(P) Hits PubMed IDs
myotonic dystrophy 54.4 1

Genatlas disease for ATP2A1 Gene

myopathy,with impaired skeletal muscle relaxation,Brody disease

Relevant External Links for ATP2A1

Genetic Association Database (GAD)
ATP2A1
Human Genome Epidemiology (HuGE) Navigator
ATP2A1
genes like me logo Genes that share disorders with ATP2A1: view

Publications for ATP2A1 Gene

  1. Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)- ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. (PMID: 8825625) Zhang Y. … Maclennan D.H. (Genomics 1995) 3 4 23
  2. The mutation of Pro(789) to Leu reduces the activity of the fast- twitch skeletal muscle sarco(endo)plasmic reticulum Ca(2+) ATPase (SERCA1) and is associated with Brody disease. (PMID: 10914677) Odermatt A. … MacLennan D.H. (Hum. Genet. 2000) 3 4 23
  3. Sarcoplasmic reticulum Ca2+ load in human heart failure. (PMID: 12479237) Pieske B. … Schmidt-Schweda S. (Basic Res. Cardiol. 2002) 3 23
  4. Distribution and isoform diversity of the organellar Ca2+ pumps in the brain. (PMID: 9642673) Baba-Aissa F. … Casteels R. (Mol. Chem. Neuropathol. 1998) 3 23
  5. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. (PMID: 8841193) Odermatt A. … MacLennan D.H. (Nat. Genet. 1996) 3 23

Products for ATP2A1 Gene

Sources for ATP2A1 Gene

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