ATPase, Ca(2+)-Transporting, Type 2C, Member 1

Alternative Names

ATP2C1
ATPase, Ca(2+)-Sequestering
Secretory Pathway Ca(2+) ATPase 1
SPCA1
PMR1, Rat, Homolog of
KIAA1347

Length

166,230 bases

No. of Exons

No. of isoforms

Protein Name

Calcium-transporting ATPase type 2C member 1

Amino Acid Count

919

Genomic Location

chr3:130,850,483-131,016,712

Gene Map Locus

3q22.1

Description

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map

Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014382.4:c.13C>T	Lebanon	chr3:130930422		Pathogenic	Benign Chronic Pemphigus	NG_007379.2:g.84898C>T; NM_014382.4:c.13C>T; NP_055197.2:p.Arg5Cys	769987523
NM_014382.4:c.2371_2374delTTGT	Lebanon	chr3:130997733-130997736	Pathogenic	Pathogenic	Benign Chronic Pemphigus	NG_007379.2:g.152209_152212delTTGT; NM_014382.4:c.2371_2374delTTGT; NP_055197.2:p.Phe792fs	1057517706	372308
NM_014382.4:c.361-1G>A	Lebanon	chr3:130940630		Pathogenic	Benign Chronic Pemphigus	NG_007379.2:g.95107G>A; NM_014382.4:c.361-1G>A

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External Links

https://ghr.nlm.nih.gov/gene/ATP2C1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP2C1 https://www.ncbi.nlm.nih.gov/gene/27032

Contributors

Pratibha Nair: 21.06.2020

Edit History

Pratibha Nair: 21.06.2020

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