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ATP2C1 This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD); also known as benign familial pemphigus. HHD is an autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. 6 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 3q22.1
Cellular Component: Golgi apparatus; Golgi membrane; membrane; trans-Golgi network
Molecular Function: calcium-transporting ATPase activity; signal transducer activity
Biological Process: actin cytoskeleton reorganization; calcium ion transport; calcium-dependent cell-cell adhesion; cellular calcium ion homeostasis; epidermis development; Golgi calcium ion homeostasis; Golgi calcium ion transport; positive regulation of I-kappaB kinase/NF-kappaB cascade
Disease: Benign Chronic Pemphigus
Reference #:  P98194 (UniProtKB)
Alt. Names/Synonyms: AT2C1; ATP-dependent Ca(2+) pump PMR1; ATP2C1; ATP2C1A; ATPase 2C1; ATPase, Ca(2+)-sequestering; ATPase, Ca++ transporting, type 2C, member 1; BCPM; Calcium-transporting ATPase type 2C member 1; HHD; hSPCA1; HUSSY-28; KIAA1347; PMR1; PMR1L; secretory pathway Ca2+/Mn2+ ATPase 1; SPCA1
Gene Symbols: ATP2C1
Molecular weight: 100,577 Da
Basal Isoelectric point: 6.34  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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