ATP2B3
entrez
492
canonical
uniprot
Q16720
canonical
ensembl
ENSG00000067842
resolver
ensp
ENSP00000263519
resolver
ensp
ENSP00000343886
resolver
ensp
ENSP00000352062
resolver
ensp
ENSP00000359205
resolver
ensp
ENSP00000377425
resolver
ensp
ENSP00000516173
resolver
ensp
ENSP00000614105
resolver
ensp
ENSP00000694813
resolver
enst
ENST00000496610
resolver
enst
ENST00000944046
resolver
genesymbol
ATP2B3
resolver
hgnc
HGNC:816
resolver
uniprot
A0A994J5M1
resolver
uniprot
B7WNR8
resolver
uniprot
B7WNY5
resolver
uniprot
Q12995
resolver
uniprot
Q16858
resolver
uniprot_entry
A0A994J5M1_HUMAN
resolver
uniprot_entry
AT2B3_HUMAN
resolver
uniprot_sec
B7WNR8
resolver
uniprot_sec
B7WNY5
resolver
uniprot_sec
Q12995
resolver
uniprot_sec
Q16858
resolver
activity_regulation
ACTIVITY REGULATION: Down-regulated by YWHAE. {ECO:0000269|PubMed:18029012}.
uniprot
proteins
amino_acid_sequence
MGDMANSSIEFHPKPQQQRDVPQAGGFGCTLAELRTLMELRGAEALQKIEEAYGDVSGLCRRLKTSPTEGLADNTNDLEKRRQIYGQNFIPPKQPKTFLQLVWEALQDVTLIILEVAAIVSLGLSFYAPPGEESEACGNVSGGAEDEGEAEAGWIEGAAILLSVICVVLVTAFNDWSKEKQFRGLQSRIEQEQKFTVIRNGQLLQVPVAALVVGDIAQVKYGDLLPADGVLIQANDLKIDESSLTGESDHVRKSADKDPMLLSGTHVMEGSGRMVVTAVGVNSQTGIIFTLLGAGGEEEEKKDKKGKQQDGAMESSQTKAKKQDGAVAMEMQPLKSAEGGEMEEREKKKANAPKKEKSVLQGKLTKLAVQIGKAGLVMSAITVIILVLYFVIETFVVEGRTWLAECTPVYVQYFVKFFIIGVTVLVVAVPEGLPLAVTISLAYSVKKMMKDNNLVRHLDACETMGNATAICSDKTGTLTTNRMTVVQSYLGDTHYKEIPAPSALTPKILDLLVHAISINSAYTTKILPPEKEGALPRQVGNKTECALLGFVLDLKRDFQPVREQIPEDKLYKVYTFNSVRKSMSTVIRMPDGGFRLFSKGASEILLKKCTNILNSNGELRGFRPRDRDDMVRKIIEPMACDGLRTICIAYRDFSAGQEPDWDNENEVVGDLTCIAVVGIEDPVRPEVPEAIRKCQRAGITVRMVTGDNINTARAIAAKCGIIQPGEDFLCLEGKEFNRRIRNEKGEIEQERLDKVWPKLRVLARSSPTDKHTLVKGIIDSTTGEQRQVVAVTGDGTNDGPALKKADVGFAMGIAGTDVAKEASDIILTDDNFTSIVKAVMWGRNVYDSISKFLQFQLTVNVVAVIVAFTGACITQDSPLKAVQMLWVNLIMDTFASLALATEPPTESLLLRKPYGRDKPLISRTMMKNILGHAVYQLAIIFTLLFVGELFFDIDSGRNAPLHSPPSEHYTIIFNTFVMMQLFNEINARKIHGERNVFDGIFSNPIFCTIVLGTFGIQIVIVQFGGKPFSCSPLSTEQWLWCLFVGVGELVWGQVIATIPTSQLKCLKEAGHGPGKDEMTDEELAEGEEEIDHAERELRRGQILWFRGLNRIQTQIRVVKAFRSSLYEGLEKPESKTSIHNFMATPEFLINDYTHNIPLIDDTDVDENEERLRAPPPPSPNQNNNAIDSGIYLTTHVTKSATSSVFSSSPGSPLHSVETSL
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAX1 is characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia. {ECO:0000269|PubMed:22912398, ECO:0000269|PubMed:25953895}. 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: ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals (PubMed:18029012, PubMed:22912398, PubMed:25953895, PubMed:27035656). Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment (PubMed:25953895, PubMed:27035656). May counter-transport protons, but the mechanism and the stoichiometry of this Ca(2+)/H(+) exchange remains to be established (By similarity). {ECO:0000250|UniProtKB:Q64568, ECO:0000269|PubMed:18029012, ECO:0000269|PubMed:22912398, ECO:0000269|PubMed:25953895, ECO:0000269|PubMed:27035656}.
uniprot
proteins
mass_dalton
134197
uniprot
proteins
mutagenesis
MUTAGEN 473; /note="D->A: Impaired ATPase activity."; /evidence="ECO:0000269|PubMed:25953895
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIB subfamily
uniprot
proteins
pubmed
10854409
uniprot
proteins
pubmed
12763866
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18029012
uniprot
proteins
pubmed
22912398
uniprot
proteins
pubmed
25953895
uniprot
proteins
pubmed
27035656
uniprot
proteins
pubmed
7989379
uniprot
proteins
pubmed
8187550
uniprot
proteins
pubmed
8245032
uniprot
proteins
pubmed
8765088
uniprot
proteins
sequence_length
1220
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18029012, ECO:0000269|PubMed:25953895}; Multi-pass membrane protein {ECO:0000255}. Presynaptic cell membrane {ECO:0000250|UniProtKB:Q64568}; Multi-pass membrane protein {ECO:0000255}. Note=Localized at parallel fiber terminals. {ECO:0000250|UniProtKB:Q64568}.
uniprot
proteins
transmembrane_region
TRANSMEM 98..118; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 156..176; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 365..384; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 418..435; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 850..869; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 880..900; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 921..943; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 962..983; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1003..1024; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1035..1056; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins