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ATP2C1, also known as secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1, belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium from the cytosol to the Golgi lumen. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder characterized by persistent blisters and erosions of the skin. Unlike the related protein ATP2C2, ATP2C1 is ubiquitously expressed and displays a lower maximal turnover rate for overall Ca2+-ATPase reaction and a higher apparent affinity for cytosolic Ca2+ activation of phosphorylation. Recent evidence suggests that ATP2C1 is a key regulator of insulin-like growth factor receptor (IGF1R) processing in tumor progression in basal breast cancers.
1700121J11Rik; ATP2C1; ATP2C1A; ATPase 2C1; ATPase secretory pathway Ca2+ transporting 1; ATPase, Ca(2+)-sequestering; ATPase, Ca++ transporting, type 2C, member 1; ATPase, Ca++-sequestering; ATP-dependent Ca(2+) pump PMR1; AW061228; BCPM; calcium-transporting ATPase 2C1; calcium-transporting ATPase type 2C member 1; D930003G21Rik; HHD; hSPCA1; HUSSY 28; HUSSY-28; KIAA1347; Pmr1; PMR1L; rat; secretory pathway Ca(2+)-ATPase 1; secretory pathway Ca2+/Mn2+ ATPase 1; SPCA; SPCA1
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