SERCA1 ATPase est un gène codé par le symbole ATP2A1. Il est également connu sous le nom de: Sarcoplasmic/endoplasmic reticulum calcium ATPase 1; SERCA1; Calcium pump 1; Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform; Endoplasmic reticulum class 1/2 Ca(2+) ATPase; ATP2A1. SERCA1 ATPase a une masse de 110.25kDa, une longueur d'acide aminé de 1001, et est impliqué dans Brody myopathy.
Nous proposons 6 des anticorps contre SERCA1 ATPase, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms.
Spécificité tissulaire
Skeletal muscle, fast twitch muscle (type II) fibers.
Implication dans la maladie
Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.
Similitudes de séquence
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
Localisation cellulaire
Endoplasmic reticulum membrane. Sarcoplasmic reticulum membrane.
