ATP2C1

ATP2C1
Identifiers
Aliases	ATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1
External IDs	OMIM: 604384; MGI: 1889008; HomoloGene: 56672; GeneCards: ATP2C1; OMA:ATP2C1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	131,016,712 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	105,404,518 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; ventricular zone; ; stromal cell of endometrium; ; endothelial cell; ; epithelium of colon; ; islet of Langerhans; ; C1 segment; ; ganglionic eminence; ; Epithelium of choroid plexus; ; Achilles tendon;
	Top expressed in
	secondary oocyte; ; zygote; ; granulocyte; ; neural layer of retina; ; seminal vesicula; ; dentate gyrus of hippocampal formation granule cell; ; primary oocyte; ; tail of embryo; ; otic placode; ; primary visual cortex;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; calcium ion binding; manganese ion binding; P-type calcium transporter activity; signal transducer activity; metal ion binding; ABC-type manganese transporter activity; hydrolase activity; ATP binding;
Cellular component	integral component of membrane; Golgi apparatus; membrane; Golgi membrane; trans-Golgi network;
Biological process	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; actin cytoskeleton reorganization; cellular calcium ion homeostasis; Golgi calcium ion homeostasis; ion transport; ion transmembrane transport; epidermis development; positive regulation of I-kappaB kinase/NF-kappaB signaling; cellular manganese ion homeostasis; manganese ion transport; Golgi calcium ion transport; calcium ion transport; manganese ion transmembrane transport; signal transduction; calcium ion transmembrane transport; transport;
	Sources:Amigo / QuickGO
Orthologs
	27032
	235574
	ENSG00000017260
	ENSMUSG00000032570
	P98194
	Q80XR2
NM_001001485; NM_001001486; NM_001001487; NM_001199179; NM_001199180;
	NM_001199181; NM_001199182; NM_001199183; NM_001199184; NM_001199185; NM_014382; NM_001378511; NM_001378512; NM_001378513; NM_001378514; NM_001378687
NM_001253831; NM_001253834; NM_001253836; NM_175025; NM_001359822;
	NM_001359823
NP_001001485; NP_001001486; NP_001001487; NP_001186108; NP_001186109;
	NP_001186110; NP_001186111; NP_001186112; NP_001186113; NP_001186114; NP_055197; NP_001365440; NP_001365441; NP_001365442; NP_001365443; NP_001365616
NP_001240760; NP_001240763; NP_001240765; NP_778190; NP_001346751;
	NP_001346752
	Wikidata
View/Edit Human	View/Edit Mouse

Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.

This gene encodes one of the SPCA proteins, a Ca²⁺ ion-transporting P-type ATPase. 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.