ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1)
[Edit]ATP2C1A; BCPM; HHD; PMR1; SPCA1; hSPCA1; Benign Chronic Pemphigus(Hailey-Hailey Disease); Secretory Pathway Ca2+/Mn2+ ATPase 1
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ATP2C1 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.
ATP2C1a was predicted to encode 919 amino acids, and ATP2C1b was predicted to encode 888 amino acids. The protein encoded by ATP2C1 was highly homologous to rat Pmr1, which in turn is homologous to the yeast calcium pump Pmr1, but less homologous to other calcium pumps. ATP2C1 is highly expressed in human epidermal keratinocytes and at various levels in other human tissues. Patients with HHD are not known to have extracutaneous manifestations of the disease.
Organism species: Homo sapiens (Human)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | RPG380Hu01 | Recombinant ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | n/a | Monoclonal Antibody to ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for ATPase, Ca++ Transporting, Type 2C, Member 1 (ATP2C1) | ELISA Kit Customized Service Offer |
- "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease."Nat. Genet. 24:61-65(2000) [PubMed] [Europe PMC] [Abstract]
- "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump."Hum. Mol. Genet. 9:1131-1140(2000) [PubMed] [Europe PMC] [Abstract]
- "Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)."J. Biol. Chem. 278:24721-24730(2003) [PubMed] [Europe PMC] [Abstract]
- "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence, annotation and analysis of human chromosome 3." Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Characterization of 16 novel human genes showing high similarity to yeast sequences."Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
- "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
- "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
- "Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene."J. Invest. Dermatol. 118:338-343(2002) [PubMed] [Europe PMC] [Abstract]
- "Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease."J. Invest. Dermatol. 118:550-551(2002) [PubMed] [Europe PMC] [Abstract]