ATP2C1

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
ATP2C1
Identifiers
AliasesATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1
External IDsOMIM: 604384 MGI: 1889008 HomoloGene: 56672 GeneCards: ATP2C1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ATP2C1
Genomic location for ATP2C1
Band3q22.1Start130,850,595 bp[1]
End131,016,712 bp[1]
RNA expression pattern
PBB GE ATP2C1 209934 s at fs.png

PBB GE ATP2C1 209935 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 3: 130.85 – 131.02 MbChr 9: 105.4 – 105.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000017260 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032570 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr (Feb 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nat Genet. 24 (1): 61–5. doi:10.1038/71701. PMID 10615129.
  6. ^ Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP (Jun 2000). "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump". Hum Mol Genet. 9 (7): 1131–40. doi:10.1093/hmg/9.7.1131. PMID 10767338.
  7. ^ a b "Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1".

External links[edit]

Further reading[edit]