ATP13A2

Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene that is involved in the transport of divalent transition metal cations.[5][6][7] It appears to protect cells from manganese[8] and zinc toxicity,[9] possibly by causing cellular efflux and/or lysosomal sequestration; and from iron toxicity, possibly by preserving lysosome integrity against iron-induced lipid peroxidation.[10] However, it potentiates the toxic effects of cadmium and nickel on developing neurites,[11] and of the widely used herbicide paraquat[12] possibly by increasing polyamine uptake.[13]

ATP13A2
Identifiers
AliasesATP13A2, CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2, SPG78, ATPase cation transporting 13A2
External IDsOMIM: 610513 MGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p36.13Start16,985,958 bp[1]
End17,011,928 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23400

74772

Ensembl

ENSG00000159363

ENSMUSG00000036622

UniProt

Q9NQ11
Q8N4D4

Q9CTG6

RefSeq (mRNA)

NM_001141973
NM_001141974
NM_022089

NM_001164366
NM_029097

RefSeq (protein)

NP_001135445
NP_001135446
NP_071372
NP_001135445.1
NP_001135446.1

NP_001157838
NP_083373

Location (UCSC)Chr 1: 16.99 – 17.01 MbChr 4: 140.99 – 141.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.[14]

References

  1. GRCh38: Ensembl release 89: ENSG00000159363 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000036622 - 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. Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE (October 2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice". Biochemical and Biophysical Research Communications. 323 (3): 731–8. doi:10.1016/j.bbrc.2004.08.156. PMID 15381061.
  6. Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C (October 2006). "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase". Nature Genetics. 38 (10): 1184–91. doi:10.1038/ng1884. PMID 16964263.
  7. "Entrez Gene: ATP13A2 ATPase type 13A2".
  8. Tan J, Zhang T, Jiang L, Chi J, Hu D, Pan Q, Wang D, Zhang Z (August 2011). "Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein". The Journal of Biological Chemistry. 286 (34): 29654–62. doi:10.1074/jbc.M111.233874. PMC 3191006. PMID 21724849.
  9. Tsunemi T, Krainc D (June 2014). "Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation". Human Molecular Genetics. 23 (11): 2791–801. doi:10.1093/hmg/ddt572. PMC 4014186. PMID 24334770.
  10. Rinaldi DE, Corradi GR, Cuesta LM, Adamo HP, de Tezanos Pinto F (August 2015). "The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity". Biochimica et Biophysica Acta. 1848 (8): 1646–55. doi:10.1016/j.bbamem.2015.04.008. PMID 25912790.
  11. Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, Glauser L, Moore DJ (2012-06-29). "Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism". PLOS ONE. 7 (6): e39942. doi:10.1371/journal.pone.0039942. PMC 3386943. PMID 22768177.
  12. Pinto F, Corradi GR, Hera DP, Adamo HP (February 2012). "CHO cells expressing the human P₅-ATPase ATP13A2 are more sensitive to the toxic effects of herbicide paraquat". Neurochemistry International. 60 (3): 243–8. doi:10.1016/j.neuint.2012.01.002. PMID 22265822.
  13. De La Hera DP, Corradi GR, Adamo HP, De Tezanos Pinto F (February 2013). "Parkinson's disease-associated human P5B-ATPase ATP13A2 increases spermidine uptake". The Biochemical Journal. 450 (1): 47–53. doi:10.1042/BJ20120739. PMID 23205587.
  14. Online Mendelian Inheritance in Man (OMIM) ATPase, TYPE 13A2; ATP13A2 -610513

Further reading


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