ATP2A1
entrez
487
canonical
uniprot
O14983
canonical
ensembl
ENSG00000196296
resolver
ensp
ENSP00000349595
resolver
ensp
ENSP00000378879
resolver
ensp
ENSP00000443101
resolver
genesymbol
ATP2A1
resolver
hgnc
HGNC:811
resolver
uniprot
A8K5J9
resolver
uniprot
B3KY17
resolver
uniprot
O14984
resolver
uniprot_entry
AT2A1_HUMAN
resolver
uniprot_sec
A8K5J9
resolver
uniprot_sec
B3KY17
resolver
uniprot_sec
O14984
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by sarcolipin (SLN) and myoregulin (MRLN). Has also been shown to be reversibly inhibited by phospholamban (PLN) at low calcium concentrations in vitro. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium and this inhibition is regulated by the phosphorylation of PLN in vitro. Enhanced by DWORF; DWORF increases activity by displacing sarcolipin (SLN), phospholamban (PLN) and myoregulin (MRLN). {ECO:0000250|UniProtKB:P04191, ECO:0000250|UniProtKB:Q8R429}.
uniprot
proteins
amino_acid_sequence
MEAAHAKTTEECLAYFGVSETTGLTPDQVKRNLEKYGLNELPAEEGKTLWELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVEPFVILLILIANAIVGVWQERNAENAIEALKEYEPEMGKVYRADRKSVQRIKARDIVPGDIVEVAVGDKVPADIRILAIKSTTLRVDQSILTGESVSVIKHTEPVPDPRAVNQDKKNMLFSGTNIAAGKALGIVATTGVGTEIGKIRDQMAATEQDKTPLQQKLDEFGEQLSKVISLICVAVWLINIGHFNDPVHGGSWFRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQMSVCKMFIIDKVDGDICLLNEFSITGSTYAPEGEVLKNDKPVRPGQYDGLVELATICALCNDSSLDFNEAKGVYEKVGEATETALTTLVEKMNVFNTDVRSLSKVERANACNSVIRQLMKKEFTLEFSRDRKSMSVYCSPAKSSRAAVGNKMFVKGAPEGVIDRCNYVRVGTTRVPLTGPVKEKIMAVIKEWGTGRDTLRCLALATRDTPPKREEMVLDDSARFLEYETDLTFVGVVGMLDPPRKEVTGSIQLCRDAGIRVIMITGDNKGTAIAICRRIGIFGENEEVADRAYTGREFDDLPLAEQREACRRACCFARVEPSHKSKIVEYLQSYDEITAMTGDGVNDAPALKKAEIGIAMGSGTAVAKTASEMVLADDNFSTIVAAVEEGRAIYNNMKQFIRYLISSNVGEVVCIFLTAALGLPEALIPVQLLWVNLVTDGLPATALGFNPPDLDIMDRPPRSPKEPLISGWLFFRYMAIGGYVGAATVGAAAWWFLYAEDGPHVNYSQLTHFMQCTEDNTHFEGIDCEVFEAPEPMTMALSVLVTIEMCNALNSLSENQSLLRMPPWVNIWLLGSICLSMSLHFLILYVDPLPMIFKLRALDLTQWLMVLKISLPVIGLDEILKFVARNYLEDPEDERRK
uniprot
proteins
disease_involvement
DISEASE: Brody disease (BROD) [MIM:601003]: An autosomal recessive muscular disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. {ECO:0000269|PubMed:10914677}. 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: Key regulator of striated muscle performance by acting as the major Ca(2+) ATPase responsible for the reuptake of cytosolic Ca(2+) into the sarcoplasmic reticulum. Catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (By similarity). Contributes to calcium sequestration involved in muscular excitation/contraction (PubMed:10914677). {ECO:0000250|UniProtKB:P04191, ECO:0000269|PubMed:10914677}.
uniprot
proteins
mass_dalton
110252
uniprot
proteins
protein_family
Cation transport ATPase (P-type) (TC 3.A.3) family
uniprot
proteins
protein_family
Type IIA subfamily
uniprot
proteins
pubmed
10914677
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
28890335
uniprot
proteins
pubmed
8825625
uniprot
proteins
sequence_length
1001
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P04191}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P04191}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:P04191}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P04191}.
uniprot
proteins
transmembrane_region
TRANSMEM 49..69; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 90..110; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 254..273; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 296..313; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 758..777; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 788..808; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 829..851; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 898..917; /note="Helical; Name=8"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 931..949; /note="Helical; Name=9"; /evidence="ECO:0000250|UniProtKB:P04191"; TRANSMEM 965..985; /note="Helical; Name=10"; /evidence="ECO:0000250|UniProtKB:P04191
uniprot
proteins