ATP2B1
entrez
490
canonical
uniprot
P20020
canonical
ensembl
ENSG00000070961
resolver
ensp
ENSP00000352054
resolver
ensp
ENSP00000392043
resolver
ensp
ENSP00000447041
resolver
ensp
ENSP00000516172
resolver
ensp
ENSP00000570709
resolver
ensp
ENSP00000570711
resolver
ensp
ENSP00000609987
resolver
ensp
ENSP00000609988
resolver
ensp
ENSP00000609990
resolver
ensp
ENSP00000609991
resolver
ensp
ENSP00000631017
resolver
ensp
ENSP00000631018
resolver
ensp
ENSP00000631019
resolver
ensp
ENSP00000631020
resolver
ensp
ENSP00000688867
resolver
ensp
ENSP00000757453
resolver
ensp
ENSP00000785096
resolver
genesymbol
ATP2B1
resolver
genesymbol_syn
PMCA1
resolver
hgnc
HGNC:814
resolver
uniprot
Q12992
resolver
uniprot
Q12993
resolver
uniprot
Q13819
resolver
uniprot
Q13820
resolver
uniprot
Q13821
resolver
uniprot
Q16504
resolver
uniprot
Q93082
resolver
uniprot_entry
AT2B1_HUMAN
resolver
uniprot_sec
Q12992
resolver
uniprot_sec
Q12993
resolver
uniprot_sec
Q13819
resolver
uniprot_sec
Q13820
resolver
uniprot_sec
Q13821
resolver
uniprot_sec
Q16504
resolver
uniprot_sec
Q93082
resolver
amino_acid_sequence
MGDMANNSVAYSGVKNSLKEANHDGDFGITLAELRALMELRSTDALRKIQESYGDVYGICTKLKTSPNEGLSGNPADLERREAVFGKNFIPPKKPKTFLQLVWEALQDVTLIILEIAAIVSLGLSFYQPPEGDNALCGEVSVGEEEGEGETGWIEGAAILLSVVCVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRGGQVIQIPVADITVGDIAQVKYGDLLPADGILIQGNDLKIDESSLTGESDHVKKSLDKDPLLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDEKKKEKKNKKQDGAIENRNKAKAQDGAAMEMQPLKSEEGGDGDEKDKKKANLPKKEKSVLQGKLTKLAVQIGKAGLLMSAITVIILVLYFVIDTFWVQKRPWLAECTPIYIQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTMNRMTVVQAYINEKHYKKVPEPEAIPPNILSYLVTGISVNCAYTSKILPPEKEGGLPRHVGNKTECALLGLLLDLKRDYQDVRNEIPEEALYKVYTFNSVRKSMSTVLKNSDGSYRIFSKGASEIILKKCFKILSANGEAKVFRPRDRDDIVKTVIEPMASEGLRTICLAFRDFPAGEPEPEWDNENDIVTGLTCIAVVGIEDPVRPEVPDAIKKCQRAGITVRMVTGDNINTARAIATKCGILHPGEDFLCLEGKDFNRRIRNEKGEIEQERIDKIWPKLRVLARSSPTDKHTLVKGIIDSTVSDQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFTSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTLASLALATEPPTESLLLRKPYGRNKPLISRTMMKNILGHAFYQLVVVFTLLFAGEKFFDIDSGRNAPLHAPPSEHYTIVFNTFVLMQLFNEINARKIHGERNVFEGIFNNAIFCTIVLGTFVVQIIIVQFGGKPFSCSELSIEQWLWSIFLGMGTLLWGQLISTIPTSRLKFLKEAGHGTQKEEIPEEELAEDVEEIDHAERELRRGQILWFRGLNRIQTQIRVVNAFRSSLYEGLEKPESRSSIHNFMTHPEFRIEDSEPHIPLIDDTDAEDDAPTKRNSSPPPSPNKNNNAVDSGIHLTIEMNKSATSSSPGSPLHSLETSL
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 66 (MRD66) [MIM:619910]: An autosomal dominant disorder characterized by mild to moderate global development delay, impaired intellectual development, and speech delay. Additional common symptoms include autism, seizures, and distal limb abnormalities. Disease severity is highly variable. {ECO:0000269|PubMed:35358416}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.2.2.10
uniprot
proteins
function
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 regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). May play a role in synaptic transmission by modulating calcium and proton dynamics at the synaptic vesicles. {ECO:0000250|UniProtKB:G5E829, ECO:0000269|PubMed:29104511, ECO:0000269|PubMed:35358416}.
uniprot
proteins
mass_dalton
134685
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIB subfamily
uniprot
proteins
pubmed
12763866
uniprot
proteins
pubmed
1332771
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18029012
uniprot
proteins
pubmed
1827443
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21400627
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22084111
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2528729
uniprot
proteins
pubmed
2548572
uniprot
proteins
pubmed
2844759
uniprot
proteins
pubmed
29104511
uniprot
proteins
pubmed
30190470
uniprot
proteins
pubmed
35358416
uniprot
proteins
pubmed
7694502
uniprot
proteins
pubmed
7989379
uniprot
proteins
pubmed
8245032
uniprot
proteins
pubmed
8386431
uniprot
proteins
pubmed
8396145
uniprot
proteins
pubmed
9020386
uniprot
proteins
sequence_length
1220
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18029012, ECO:0000269|PubMed:35358416}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000250|UniProtKB:G5E829}. Synapse {ECO:0000250|UniProtKB:G5E829}. Presynaptic cell membrane {ECO:0000250|UniProtKB:G5E829}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:G5E829}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalizes with SV2A in photoreceptor synaptic terminals. Colocalizes with NPTN to the immunological synapse. Colocalizes with EPB41 to the basolateral membrane in enterocyte. Preferentially sorted to recycling synaptic vesicles. {ECO:0000250|UniProtKB:G5E829}.
uniprot
proteins
transmembrane_region
TRANSMEM 106..126; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470"; TRANSMEM 155..175; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470"; TRANSMEM 367..386; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470"; TRANSMEM 419..439; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 856..876; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 883..903; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 928..948; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470"; TRANSMEM 972..991; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470"; TRANSMEM 1006..1027; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470"; TRANSMEM 1040..1060; /note="Helical"; /evidence="ECO:0000269|PubMed:30190470
uniprot
proteins