• Gene id: 490

Gene Summary

• Gene Symbol: ATP2B1   Gene   UCSC   Ensembl
• Aliases: PMCA1, PMCA1kb
• Gene name: ATPase plasma membrane Ca2+ transporting 1
• Alternate names: plasma membrane calcium-transporting ATPase 1, ATPase, Ca++ transporting, plasma membrane 1, plasma membrane calcium pump,
• Gene location: 12q21.33 (89709365: 89588048)     Exons: 24     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells
• OMIM: 604557

Protein Summary

• Protein general information: P20020  
  • Name: Plasma membrane calcium transporting ATPase 1 (EC 7.2.2.10) (Plasma membrane calcium ATPase isoform 1) (PMCA1) (Plasma membrane calcium pump isoform 1)
  • Length: 1220  
  • Mass: 134685
  • Tissue specificity: Isoform B
• Sequence:

  MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNP
  ADLERREAVFGKNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGE
  TGWIEGAAILLSVVCVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLP
  ADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEK
  KDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKSVLQGKLTKLAVQIGK
  AGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKM
  MKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYT
  SKILPPEKEGGLPRHVGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFS
  KGASEIILKKCFKILSANGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLT
  CIAVVGIEDPVRPEVPDAIKKCQRAGITVRMVTGDNINTARAIATKCGILHPGEDFLCLEGKDFNRRIRNEKGEI
  EQERIDKIWPKLRVLARSSPTDKHTLVKGIIDSTVSDQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEA
  SDIILTDDNFTSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTLASL
  ALATEPPTESLLLRKPYGRNKPLISRTMMKNILGHAFYQLVVVFTLLFAGEKFFDIDSGRNAPLHAPPSEHYTIV
  FNTFVLMQLFNEINARKIHGERNVFEGIFNNAIFCTIVLGTFVVQIIIVQFGGKPFSCSELSIEQWLWSIFLGMG
  TLLWGQLISTIPTSRLKFLKEAGHGTQKEEIPEEELAEDVEEIDHAERELRRGQILWFRGLNRIQTQIRVVNAFR
  SSLYEGLEKPESRSSIHNFMTHPEFRIEDSEPHIPLIDDTDAEDDAPTKRNSSPPPSPNKNNNAVDSGIHLTIEM
  NKSATSSSPGSPLHSLETSL

• Structural information:
  • Interpro: IPR030320  IPR022141  IPR006068  IPR004014  IPR023299   IPR018303  IPR023298  IPR008250  IPR036412  IPR023214  IPR006408  IPR001757  
  • Prosite: PS00154
  • PDB: 6A69
  • PDBsum: 6A69
  • STRING: ENSP00000392043
• Other Databases: GeneCards:  ATP2B1  Malacards:  ATP2B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051480	regulation of cytosolic calcium ion concentration	IDA	biological process
GO:1990034	calcium ion export across plasma membrane	IDA	biological process
GO:0015085	calcium ion transmembrane transporter activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IBA	molecular function
GO:0030165	PDZ domain binding	IBA	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IBA	molecular function
GO:0016887	ATPase activity	IDA	molecular function
GO:0051928	positive regulation of calcium ion transport	ISS	biological process
GO:0030501	positive regulation of bone mineralization	ISS	biological process
GO:0003056	regulation of vascular smooth muscle contraction	ISS	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0001772	immunological synapse	ISS	cellular component
GO:0001818	negative regulation of cytokine production	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051481	negative regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1900076	regulation of cellular response to insulin stimulus	IMP	biological process
GO:0051481	negative regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005388	calcium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001772	immunological synapse	IEA	cellular component
GO:0001818	negative regulation of cytokine production	IEA	biological process
GO:0003056	regulation of vascular smooth muscle contraction	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0051928	positive regulation of calcium ion transport	IEA	biological process
GO:0003407	neural retina development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0032591	dendritic spine membrane	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:1901660	calcium ion export	IEA	biological process
GO:0051481	negative regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0009409	response to cold	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0032590	dendrite membrane	IEA	cellular component
GO:0032809	neuronal cell body membrane	IEA	cellular component
GO:0071386	cellular response to corticosterone stimulus	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0099059	integral component of presynaptic active zone membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IMP	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IDA	molecular function
GO:1905056	calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration	IDA	molecular function
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098982	GABA-ergic synapse	IMP	cellular component
GO:0098982	GABA-ergic synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04925	Aldosterone synthesis and secretion
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04978	Mineral absorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq