Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
490
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase plasma membrane Ca2+ transporting 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP2B1
Synonyms (NCBI Gene) Gene synonyms aliases
MRD66, PMCA1, PMCA1kb
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD66
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005818 hsa-miR-204-5p Microarray 21282569
MIRT052579 hsa-let-7a-5p CLASH 23622248
MIRT039645 hsa-miR-615-3p CLASH 23622248
MIRT724532 hsa-miR-483-3p HITS-CLIP 19536157
MIRT136414 hsa-miR-6892-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse ISS
GO:0001818 Process Negative regulation of cytokine production ISS
GO:0003056 Process Regulation of vascular associated smooth muscle contraction ISS
GO:0003407 Process Neural retina development IEA
GO:0005388 Function Calcium transmembrane transporter activity, phosphorylative mechanism IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
108731 814 ENSG00000070961
Protein
UniProt ID P20020
Protein 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)
Protein function Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:35358416). Plays a role in blood pressure regulation through regula
PDB 6A69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00690 Cation_ATPase_N 51 121 Cation transporter/ATPase, N-terminus Domain
PF00122 E1-E2_ATPase 189 307 Family
PF00122 E1-E2_ATPase 347 453 Family
PF13246 Cation_ATPase 482 614 Family
PF00702 Hydrolase 658 809 Domain
PF00689 Cation_ATPase_C 879 1061 Cation transporting ATPase, C-terminus Family
PF12424 ATP_Ca_trans_C 1103 1149 Plasma membrane calcium transporter ATPase C terminal Family
Tissue specificity TISSUE SPECIFICITY: Isoform B: Ubiquitously expressed. Isoform C: Found in brain cortex, skeletal muscle and heart muscle. Isoform D: Has only been found in fetal skeletal muscle. Isoform K: Found in small intestine and liver. Abundantly expressed in the
Sequence
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGIC
TKLKTSPNEGLSGNPADLERREAVFGKNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIV
S
LGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQ
FRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDE
SSLTGESDHVKKSLDKDPLLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEK
KDEKKKE
KKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKS
VLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFF
IIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKD
NNLVRHLDACETMGNATAICSDKTGTL
TMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRH
VGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFS
KGASEIILKKCFKI
LSANGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEP
EPEWDNENDIVTGLTCIAVVGIEDPVRPEVPDAIKKCQRAGITVRMVTGDNINTARAIAT
KCGILHPGEDFLCLEGKDFNRRIRNEKGEIEQERIDKIWPKLRVLARSSPTDKHTLVKGI
IDSTVSDQRQVVAVTGDGTNDGPALKKAD
VGFAMGIAGTDVAKEASDIILTDDNFTSIVK
AVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTLASL
ALATEPPTESLLLRKPYGRNKPLISRTMMKNILGHAFYQLVVVFTLLFAGEKFFDIDSGR
NAPLHAPPSEHYTIVFNTFVLMQLFNEINARKIHGERNVFEGIFNNAIFCTIVLGTFVVQ
IIIVQFGGKPFSCSELSIEQWLWSIFLGMGTLLWGQLISTI
PTSRLKFLKEAGHGTQKEE
IPEEELAEDVEEIDHAERELRRGQILWFRGLNRIQTQIRVVNAFRSSLYEGLEKPESRSS
IHNFMTHPE
FRIEDSEPHIPLIDDTDAEDDAPTKRNSSPPPSPNKNNNAVDSGIHLTIEM
NKSATSSSPGSPLHSLETSL
Sequence length 1220
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Coronary artery disease Coronary artery disease GWAS
Myocardial Infarction Myocardial Infarction GWAS
Hypertension Hypertension GWAS
Coronary Heart Disease Coronary Heart Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Atherosclerosis Associate 29902063
Autistic Disorder Associate 35358416
Breast Neoplasms Associate 35031021
Cardio Renal Syndrome Associate 26534935
Cardiotoxicity Associate 28851949
Cardiotoxicity Inhibit 28851949
Cerebellar Ataxia Associate 36207321
Cerebral Infarction Associate 31173308
Colorectal Neoplasms Associate 35194111, 37629096
Constriction Pathologic Associate 29902063