Ca+2-transporting ATPase type 2C member 1; ATPase 2C1; ATP-dependent Ca(2+) pump PMR1 (ATP2C1, KIAA1347, PMR1L, HUSSY-28)

Function

• transports Ca+2 coupled with hydrolysis of ATP
• Mg+2-dependent

Structure

• belongs to the cation transport ATPase (P-type) (TC 3.A.3) family, type IIA subfamily

Compartment

Golgi membrane

Alternative splicing

named isoforms=6

Expression

• found in most tissues except colon, thymus, spleen & leukocytes
• most abundant in keratinocytes & kidney
• isoform 1 & isoform 2 are expressed in the same tissues

Pathology

• defects in ATP2C1 are the cause of Hailey-Hailey disease (benign familial pemphigus)

More general terms

• adenosine triphosphatase (ATPase)
• transmembrane 10 protein
• Ca+2 binding protein

Additional terms

• benign familial pemphigus (Hailey-Hailey disease)
• HUSSY protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=27032
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:27032
• OMIM: https://mirror.omim.org/entry/169600
• OMIM: https://mirror.omim.org/entry/604384
• UniProt: http://www.uniprot.org/uniprot/P98194.html