Calcium Transporting Atpase Type 2c Member 1

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Alternative-splicing 5 Expression 6 Pathology 7 More General Terms 8 Additional Terms 9 Internet Database 10 References

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

Internet Database

Entrez gene: 27032
Kegg: [1]
OMIM: 169600
OMIM: 604384
Prosite: [2]
UniProt: [3]

References

1. UniProt [4]
2. GeneReviews [5]

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