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MT000048

UniProt Annotations

Entry Information

Gene Name	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Protein Entry	AT2A1_HUMAN
UniProt ID	O14983
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=SERCA1B; Synonyms=ATP2A1B, Neonatal; IsoId=O14983-1; Sequence=Displayed; Name=SERCA1A; Synonyms=ATP2A1A, Adult; IsoId=O14983-2; Sequence=VSP_000355; Name=3; IsoId=O14983-3; Sequence=VSP_054770, VSP_000355; Note=No experimental confirmation available.;
Catalytic Activity	ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
Developmental Stage	Isoform SERCA1A accounts for more than 99% of SERCA1 isoforms expressed in adult skeletal muscle, while isoform SERCA1B predominates in neo-natal skeletal muscle.
Disease	Brody myopathy (BRM) [MIM:601003]: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation. {ECO:0000269\|PubMed:10914677}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Reversibly inhibited by phospholamban (PLN) at low calcium concentrations. Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is regulated by the phosphorylation of PLN (By similarity). {ECO:0000250}.
Function	This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Contributes to calcium sequestration involved in muscular excitation/contraction.
Induction	Increased contractile activity leads to a decrease in SERCA1 expression, while decreased contractile activity leads to an increase in SERCA1 expression.
Similarity	Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. {ECO:0000305}.
Subcellular Location	Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein.
Subunit	Associated with sarcolipin (SLN) and phospholamban (PLN). {ECO:0000250}.
Tissue Specificity	Skeletal muscle, fast twitch muscle (type II) fibers.