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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
  • Calcium-Transporting ATPase Sarcoplasmic Reticulum Type, Fast Twitch Skeletal Muscle Isoform 3 4
  • Endoplasmic Reticulum Class 1/2 Ca(2+) ATPase 3 4
  • SR Ca(2+)-ATPase 1 3 4
  • EC 3.6.3.8 4 63
  • SERCA1 3 4
  • Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 1 2
  • 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 nucleotide binding. 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 concentration of Ca2+ ions. They are high affinity, low capacitance transporters and complement the actions of the low affinity, high capacitance Na+/Ca2+ exchanger. Ca2+-ATPases are P-type ATPases.

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

Chromosome:
16
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

Domains & Families for ATP2A1 Gene

Gene Families for ATP2A1 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

O14983

UniProtKB/Swiss-Prot:

AT2A1_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
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

No data available for miRNA , Transcription Factor Targets 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
mitochondrion 3
cytosol 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATP2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IMP 19061639
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with ATP2A1: view

Pathways & Interactions for ATP2A1 Gene

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

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: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 --
GO:0008637 apoptotic mitochondrial changes IMP 19061639
genes like me logo Genes that share ontologies with ATP2A1: view

No data available for SIGNOR curated interactions for ATP2A1 Gene

Drugs & Compounds for ATP2A1 Gene

(13) Drugs for ATP2A1 Gene - From: NovoSeek, Tocris, HMDB, ApexBio, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Halothane Approved Pharma Activator 1
(6AR,11AS,11BR)-10-ACETYL-9-HYDROXY-7,7-DIMETHYL-2,6,6A,7,11A,11B-HEXAHYDRO-11H-PYRROLO[1',2':2,3]ISOINDOLO[4,5,6-CD]INDOL-11-ONE Experimental Pharma Target 0
2,5-DI-(TERT-BUTYL)-1,4,BENZOHYDROQUINONE Experimental Pharma Target 0
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
Tetrafluoroaluminate Ion Experimental Pharma Target 0

(3) Additional Compounds for ATP2A1 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Thapsigargin
67526-95-8
Cyclopiazonic acid
18172-33-3
LIPID
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:

Inhibitory RNA Products

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

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 (x50.9).

Protein differential expression in normal tissues from HIPED for ATP2A1 Gene

This gene is overexpressed in Tonsil (32.0), Nasal epithelium (17.8), and Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP2A1: view

Primer Products

  • 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

In Situ Assay Products

No data available for Protein tissue co-expression partners for ATP2A1 Gene

Orthologs for ATP2A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2A1 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia ATP2A1 35
  • 98.17 (n)
  • 98.34 (a)
ATP2A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp2a1 35
  • 90.23 (n)
  • 96.88 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP2A1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP2A1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2A1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp2a1 35
  • 79.99 (n)
  • 89.22 (a)
Str.6567 35
African clawed frog
(Xenopus laevis)
Amphibia ca-p60a-prov 35
zebrafish
(Danio rerio)
Actinopterygii atp2a1 35
  • 77.68 (n)
  • 85.9 (a)
zgc55380 35
atp2a1 36
  • 85 (a)
OneToMany
atp2a1l 36
  • 84 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1095 35
fruit fly
(Drosophila melanogaster)
Insecta Ca-P60A 37
  • 71 (a)
Ca-P60A 35
  • 70.51 (n)
  • 71.82 (a)
Ca-P60A 36
  • 70 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ATC1_ANOGA 35
  • 70.18 (n)
  • 72.57 (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 PMR1 36
  • 31 (a)
OneToMany
ENA5 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ECA3 35
  • 55.67 (n)
  • 56.36 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4294 35
rice
(Oryza sativa)
Liliopsida Os03g0730800 35
  • 56.09 (n)
  • 56.72 (a)
corn
(Zea mays)
Liliopsida Zm.509 35
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(C/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

Variation tolerance for ATP2A1 Gene

Residual Variation Intolerance Score: 3.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.94% of all genes are more intolerant (likely to be disease-causing)

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

(5) MalaCards diseases for ATP2A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
brody myopathy
  • brody disease
pseudomyotonia
  • isaacs syndrome
myotonic disease
  • myotonic disorders
myotonic dystrophy 1
  • major affective disorder 1
myotonic dystrophy
  • steinert disease
- elite association

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP2A1
genes like me logo Genes that share disorders with ATP2A1: view

Publications for ATP2A1 Gene

  1. Induction of Ca2+ signal mediated apoptosis and alteration of IP3R1 and SERCA1 expression levels by stress hormone in differentiating C2C12 myoblasts. (PMID: 19723525) Chai J. … Jiang S. (Gen. Comp. Endocrinol. 2010) 23 67
  2. HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1. (PMID: 20502647) O'Leary D.A. … Engels I.H. (Curr Chem Genomics 2010) 23 67
  3. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. (PMID: 20142766) Vattemi G. … Tomelleri G. (J. Neuropathol. Exp. Neurol. 2010) 23 67
  4. A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (PMID: 19116366) Sacchetto R. … Mascarello F. (Am. J. Pathol. 2009) 23 67
  5. High-yield heterologous expression of wild type and mutant Ca(2+) ATPase: Characterization of Ca(2+) binding sites by charge transfer. (PMID: 19559032) Liu Y. … Moncelli M.R. (J. Mol. Biol. 2009) 23 67

Products for ATP2A1 Gene

Sources for ATP2A1 Gene

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