• Gene id: 487

Gene Summary

• Gene Symbol: ATP2A1   Gene   UCSC   Ensembl
• Aliases: ATP2A, SERCA1
• Gene name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
• Alternate names: sarcoplasmic/endoplasmic reticulum calcium ATPase 1, ATPase, Ca++ transporting, cardiac muscle, fast twitch 1, SR Ca(2+)-ATPase 1, calcium pump 1, calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform, endoplasmic reticul,
• Gene location: 16p11.2 (28878487: 28904510)     Exons: 24     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 108961

Protein Summary

• Protein general information: O14983  
  • Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) (SR Ca(2+) ATPase 1) (EC 7.2.2.10) (Calcium pump 1) (Calcium transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase)
  • Length: 1001  
  • Mass: 110252
  • Tissue specificity: Skeletal muscle, fast twitch muscle (type II) fibers. {ECO
• Sequence:

  MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDLLVRILLLAACISFVL
  AWFEEGEETITAFVEPFVILLILIANAIVGVWQERNAENAIEALKEYEPEMGKVYRADRKSVQRIKARDIVPGDI
  VEVAVGDKVPADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFSGTNIAAGKALGIVAT
  TGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFNDPVHGGSWFRGAIYYFKIAV
  ALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQMSVCKMFIIDKVDGD
  ICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALCNDSSLDFNEAKGVYEKVGEATETALTTLVE
  KMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRDRKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRC
  NYVRVGTTRVPLTGPVKEKIMAVIKEWGTGRDTLRCLALATRDTPPKREEMVLDDSARFLEYETDLTFVGVVGML
  DPPRKEVTGSIQLCRDAGIRVIMITGDNKGTAIAICRRIGIFGENEEVADRAYTGREFDDLPLAEQREACRRACC
  FARVEPSHKSKIVEYLQSYDEITAMTGDGVNDAPALKKAEIGIAMGSGTAVAKTASEMVLADDNFSTIVAAVEEG
  RAIYNNMKQFIRYLISSNVGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMDRPPRSPK
  EPLISGWLFFRYMAIGGYVGAATVGAAAWWFLYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMA
  LSVLVTIEMCNALNSLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLRALDLTQWLMVLKISL
  PVIGLDEILKFVARNYLEDPEDERRK

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR018303  IPR023298   IPR008250  IPR036412  IPR023214  IPR005782  IPR001757  IPR030332  
  • Prosite: PS00154
  • STRING: ENSP00000349595
• Other Databases: GeneCards:  ATP2A1  Malacards:  ATP2A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030899	calcium-dependent ATPase activity	ISS	molecular function
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0070588	calcium ion transmembrane transport	IBA	biological process
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0016887	ATPase activity	IBA	molecular function
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:1990036	calcium ion import into sarcoplasmic reticulum	ISS	biological process
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0016021	integral component of membrane	ISS	cellular component
GO:1902082	positive regulation of calcium ion import into sarcoplasmic reticulum	ISS	biological process
GO:1901896	positive regulation of ATPase-coupled calcium transmembrane transporter activity	ISS	biological process
GO:0106134	positive regulation of cardiac muscle cell contraction	ISS	biological process
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0033017	sarcoplasmic reticulum membrane	IC	cellular component
GO:0034704	calcium channel complex	IC	cellular component
GO:0090076	relaxation of skeletal muscle	IDA	biological process
GO:0008637	apoptotic mitochondrial changes	IMP	biological process
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0051659	maintenance of mitochondrion location	IMP	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	biological process
GO:0070509	calcium ion import	IMP	biological process
GO:0032470	positive regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0034976	response to endoplasmic reticulum stress	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IDA	molecular function
GO:0031448	positive regulation of fast-twitch skeletal muscle fiber contraction	IDA	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016529	sarcoplasmic reticulum	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006816	calcium ion transport	IMP	biological process
GO:0005509	calcium ion binding	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05017	Spinocerebellar ataxia
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04260	Cardiac muscle contraction
hsa04972	Pancreatic secretion
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Brody myopathy	KEGG:H01129
Brody myopathy	KEGG:H01129
Brody myopathy	PMID:8841193
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq