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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]
ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2A1 include Brody Myopathy and Atrophic Muscular Disease. Among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and nucleotide binding. An important paralog of this gene is ATP2A2.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005388 | calcium-transporting ATPase activity | IEA,IDA | 8729696 |
GO:0005509 | calcium ion binding | IMP | 9405806 |
GO:0005515 | protein binding | IPI | 9295312 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction |
.39
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2 | Platelet homeostasis | ||
3 | cGMP-PKG signaling pathway | ||
4 | Dilated cardiomyopathy (DCM) | ||
5 | Pre-NOTCH Expression and Processing |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006816 | calcium ion transport | IMP | 9405806 |
GO:0006874 | cellular calcium ion homeostasis | IBA | 21873635 |
GO:0008637 | apoptotic mitochondrial changes | IMP | 19061639 |
GO:0031448 | positive regulation of fast-twitch skeletal muscle fiber contraction | IDA | 12479237 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Desflurane | Approved | Pharma | Target, inhibitor | 209 | ||
Enflurane | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor, stimulator | 2 | ||
Lithium carbonate | Approved | Pharma | Mood stabilizer; inhibits Na+/K+ ATPase pump activity | 301 | ||
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Disulfiram | Approved | Pharma | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 49 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Disulfiram | Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities | 97-77-8 |
Ochratoxin A | Stimulates SERCA-ATP-dependent Ca2+ pump activity | 303-47-9 |
Paxilline | SERCA ATPase blocker. Also potent BKCa channel blocker | 57186-25-1 |
Thapsigargin | Potent inhibitor of SERCA ATPase | 67526-95-8 |
Compound | Action | Cas Number |
---|---|---|
ARL 67156 trisodium salt | ecto-ATPase inhibitor | 1021868-83-6 |
Ciclopirox ethanolamine | 41621-49-2 | |
Cyclopiazonic acid | 18172-33-3 | |
Enterostatin | 117830-79-2 | |
Glucagon (19-29), human | Potent Ca2+/Mg2+-ATPase inhibitor | 64790-15-4 |
K 858 | 72926-24-0 | |
Lithium carbonate | 554-13-2 | |
ML 240 | 1346527-98-7 | |
MYK-461 | inhibits adenosine triphosphatase activity | |
Ochratoxin A | 303-47-9 | |
Paprotrain | 57046-73-8 | |
Paxilline | 57186-25-1 | |
POM 1 | 12141-67-2 | |
PSB 06126 | 1052089-16-3 | |
PSB 069 | 78510-31-3 | |
SCH 28080 | 76081-98-6 | |
Thapsigargin | 67526-95-8 |
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP2A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ATP2A1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP2A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP2A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp2a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atp2a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP2A1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATP2A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp2a1 30 |
|
||
Str.6567 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | ca-p60a-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atp2a1l 31 |
|
OneToMany | |
atp2a1 30 31 |
|
OneToMany | |||
zgc55380 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1095 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ca-P60A 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | ATC1_ANOGA 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | sca-1 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMR1 31 |
|
OneToMany | |
ENA5 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ECA3 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0730800 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.4294 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.509 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10300 31 |
|
ManyToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03305 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
17805 | Pathogenic: Brody myopathy | 28,882,563(+) | TC/T | FRAMESHIFT_VARIANT | |
639338 | Uncertain Significance: Brody myopathy | 28,882,454(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
640328 | Uncertain Significance: Brody myopathy | 28,900,725(+) | C/T | MISSENSE_VARIANT | |
642983 | Uncertain Significance: Brody myopathy | 28,880,990(+) | A/C | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
643663 | Uncertain Significance: Brody myopathy | 28,888,832(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2830n100 | CNV | gain | 25217958 |
dgv2831n100 | CNV | gain | 25217958 |
dgv4987n54 | CNV | gain | 21841781 |
esv2674005 | CNV | deletion | 23128226 |
esv2758640 | CNV | gain+loss | 17122850 |
esv3570454 | CNV | gain | 25503493 |
esv3638349 | CNV | gain | 21293372 |
esv3638350 | CNV | loss | 21293372 |
esv3892826 | CNV | gain+loss | 25118596 |
nsv1059555 | CNV | gain | 25217958 |
nsv518648 | CNV | loss | 19592680 |
nsv519100 | CNV | gain | 19592680 |
nsv571805 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brody myopathy |
|
|
atrophic muscular disease |
|
|
myopathy |
|
|
myotonic disease |
|
|
myotonic dystrophy 1 |
|
|