Protein Domain : IPR030336

Type:  Family Name:  Calcium-transporting ATPase type 2C member 1
Description:  ATP2C1 (also known as SPCA1) belongs to the IIA subfamily of P-type ATPases family, whose members are Ca2+ ATPases that catalyse the hydrolysis of ATP coupled with the transport of calcium across the membrane. ATP2C1 is a secretory pathway Ca-ATPase that shares significant homology to the yeast ATPase Pmr1, which is responsible for transporting calcium and manganese ions into the Golgi apparatus [, ].ATP2C1 is linked to the F-actin through cofilin, and this interaction promotes Ca2+-mediated secretory cargo sorting []. Mutations in ATP2C1 cause Hailey-Hailey disease (HHD), which is characterised by persistent blisters and erosions of the skin, due to impaired keratinocyte adhesion [, , , ]. Short Name:  ATP2C1

0 Child Features

0 Contains

1 Cross References

Identifier
PTHR24093:SF214

0 Found In

4 GO Annotations

GO Term Gene Name
GO:0005388 IPR030336
GO:0005524 IPR030336
GO:0070588 IPR030336
GO:0016021 IPR030336

4 Ontology Annotations

GO Term Gene Name
GO:0005388 IPR030336
GO:0005524 IPR030336
GO:0070588 IPR030336
GO:0016021 IPR030336

1 Parent Features

DB identifier Type Name
IPR006413 Family P-type ATPase, subfamily IIA, PMR1-type

0 Proteins

7 Publications

First Author Title Year Journal Volume Pages PubMed ID
            22240025
            10615129
            10767338
            11841554
            11874499
            17603109
            25179631