Rabbit anti-Human ATP2C1 Polyclonal Antibody | anti-ATP2C1 antibody
ATP2C1 Antibody (C-term)
P-type cation transport ATPases. This magnesium-dependent enzyme
catalyzes the hydrolysis of ATP coupled with the transport of the
calcium. Defects in this gene cause Hailey-Hailey disease, an
autosomal dominant disorder. Alternatively spliced transcript
variants encoding different isoforms have been identified.
Davila, S., et al. Genes Immun. 11(3):232-238(2010)
Tian, H., et al. J. Dermatol. Sci. 58(1):80-82(2010)
Ding, Y.G., et al. Clin. Exp. Dermatol. 34 (8), E968-E971 (2009) :
Nechama, M., et al. BMC Cell Biol. 10, 70 (2009) :
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Uniprot Description
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.
Protein type: Transporter, ion channel; Hydrolase; Membrane protein, multi-pass; EC 3.6.3.8; Transporter; Membrane protein, integral
Chromosomal Location of Human Ortholog: 3q22.1
Cellular Component: Golgi membrane; Golgi apparatus; membrane; integral to membrane; trans-Golgi network
Molecular Function: manganese-transporting ATPase activity; signal transducer activity; calcium-transporting ATPase activity; manganese ion binding; metal ion binding; calcium ion binding; ATP binding
Biological Process: cellular calcium ion homeostasis; Golgi calcium ion homeostasis; epidermis development; positive regulation of I-kappaB kinase/NF-kappaB cascade; metabolic process; calcium ion transport; calcium-dependent cell-cell adhesion; actin cytoskeleton reorganization; manganese ion transport; cellular manganese ion homeostasis; signal transduction; Golgi calcium ion transport; transmembrane transport
Disease: Benign Chronic Pemphigus