======= ATP2A1 ======= == Gene Information == * **Official Symbol**: ATP2A1 * **Official Name**: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=487|487]] * **UniProt**: [[https://www.uniprot.org/uniprot/O14983|O14983]] * **Interactions**: [[https://thebiogrid.org/search.php?search=ATP2A1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATP2A1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/108730|Open OMIM]] == Function Summary == * **Entrez Summary**: 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. [provided by RefSeq, Oct 2013]. * **UniProt Summary**: 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. Contributes to calcium sequestration involved in muscular excitation/contraction. {ECO:0000250|UniProtKB:Q8R429}. |E1-E2 ATPase| |Cation ATPase N| |HAD| |Cation ATPase C| |Hydrolase| |regulation of fast-twitch skeletal muscle fiber contraction| |positive regulation of fast-twitch skeletal muscle fiber contraction| |positive regulation of calcium ion import into sarcoplasmic reticulum| |regulation of twitch skeletal muscle contraction| |relaxation of skeletal muscle| |maintenance of mitochondrion location| |positive regulation of endoplasmic reticulum calcium ion concentration| |calcium ion import into sarcoplasmic reticulum| |regulation of calcium ion import into sarcoplasmic reticulum| |positive regulation of actin filament-based movement| |positive regulation of cardiac muscle cell contraction| |positive regulation of ATPase-coupled calcium transmembrane transporter activity| |negative regulation of endoplasmic reticulum calcium ion concentration| |platelet dense tubular network membrane| |calcium transmembrane transporter activity, phosphorylative mechanism| |regulation of ATPase-coupled calcium transmembrane transporter activity| |positive regulation of mitochondrial calcium ion concentration| |maintenance of organelle location| |positive regulation of cardiac muscle contraction| |regulation of skeletal muscle contraction| |proton-exporting ATPase activity, phosphorylative mechanism| |positive regulation of striated muscle contraction| |sarcoplasmic reticulum calcium ion transport| |positive regulation of calcium ion import| |relaxation of muscle| |endoplasmic reticulum calcium ion homeostasis| |calcium channel complex| |mitochondrial calcium ion homeostasis| |sarcoplasmic reticulum membrane| |intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress| |regulation of cardiac muscle cell contraction| |positive regulation of heart contraction| |positive regulation of calcium ion transmembrane transporter activity| |regulation of calcium ion import| |regulation of actin filament-based movement| |calcium ion import| |sarcoplasmic reticulum| |positive regulation of muscle contraction| |mitochondrion localization| |apoptotic mitochondrial changes| |regulation of cardiac conduction| |positive regulation of blood circulation| |positive regulation of calcium ion transmembrane transport| |regulation of cardiac muscle contraction| |regulation of calcium ion transmembrane transporter activity| |regulation of striated muscle contraction| |maintenance of location in cell| |positive regulation of ion transmembrane transporter activity| |positive regulation of transporter activity| |positive regulation of calcium ion transport| |positive regulation of cation transmembrane transport| |proton transmembrane transport| |regulation of calcium ion transmembrane transport| |intrinsic apoptotic signaling pathway| |positive regulation of ion transmembrane transport| |regulation of muscle contraction| |maintenance of location| |calcium ion transmembrane transport| |positive regulation of transmembrane transport| |positive regulation of intracellular transport| |regulation of muscle system process| |regulation of heart contraction| |regulation of calcium ion transport| |calcium ion transport| |regulation of ion transmembrane transporter activity| |response to endoplasmic reticulum stress| |regulation of transmembrane transporter activity| |positive regulation of ion transport| |regulation of transporter activity| |apoptotic signaling pathway| |regulation of blood circulation| |divalent metal ion transport| |muscle system process| |divalent inorganic cation transport| |regulation of cation transmembrane transport| |regulation of intracellular transport| |regulation of metal ion transport| |regulation of actin filament-based process| |monovalent inorganic cation transport| |cellular calcium ion homeostasis| |mitochondrion organization| |calcium ion homeostasis| |cellular divalent inorganic cation homeostasis| |regulation of ion transmembrane transport| |divalent inorganic cation homeostasis| |positive regulation of cellular component movement| |cellular metal ion homeostasis| |inorganic cation transmembrane transport| |regulation of transmembrane transport| |organelle localization| |regulation of system process| |cation transmembrane transport| |metal ion homeostasis| |cellular cation homeostasis| |metal ion transport| |cellular ion homeostasis| |inorganic ion transmembrane transport| |regulation of ion transport| |cation homeostasis| |inorganic ion homeostasis| |calcium ion binding| |cellular chemical homeostasis| |ion homeostasis| |cation transport| |protein homodimerization activity| |cellular homeostasis| |regulation of cellular localization| |apoptotic process| |endoplasmic reticulum membrane| |ion transmembrane transport| |positive regulation of transport| |regulation of cellular component movement| |programmed cell death| |cell death| |chemical homeostasis| |mitochondrion| |transmembrane transport| |ion transport| |ATP binding| |intracellular transport| |homeostatic process| |intracellular signal transduction| |cellular response to stress| |positive regulation of multicellular organismal process| |positive regulation of molecular function| |establishment of localization in cell| |regulation of transport| |system process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp409|THZ531 0.11μM R07 exp409]]|1.72| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 3126 * **Expression level (log2 read counts)**: 3.03 {{:chemogenomics:nalm6 dist.png?nolink |}}