ATP2C1

Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.^[5][6][7]

AliasesATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1

External IDsOMIM: 604384; MGI: 1889008; HomoloGene: 56672; GeneCards: ATP2C1; OMA:ATP2C1 - orthologs

Chr.Chromosome 3 (human)^[1]

End131,016,712 bp^[1]

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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)[1] Band 3q22.1 Start 130,850,595 bp[1] End 131,016,712 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 F1 Start 105,280,738 bp[2] End 105,404,518 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 27032 235574 Ensembl ENSG00000017260 ENSMUSG00000032570 UniProt P98194 Q80XR2 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 3: 130.85 – 131.02 Mb Chr 9: 105.28 – 105.4 Mb PubMed search [3] [4]
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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.^[7]