ATP13A2

Last updated
ATP13A2
Identifiers
Aliases ATP13A2 , CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2, SPG78, ATPase cation transporting 13A2
External IDs OMIM: 610513 MGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001141973
NM_001141974
NM_022089

RefSeq (protein)

NP_001135445
NP_001135446
NP_071372
NP_001135445.1
NP_001135446.1

Contents

Location (UCSC) Chr 1: 16.99 – 17.01 Mb Chr 4: 140.71 – 140.73 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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

Related Research Articles

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<span class="mw-page-title-main">ATP2A1</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">ATP6V1G1</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Renin receptor</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TMEM106B</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Kufor–Rakeb syndrome</span> Medical condition

Kufor–Rakeb syndrome (KRS) is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). It is named after Kufr Rakeb in Irbid, Jordan. Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia. The disease was first described in 1994 by Najim Al-Din et al. The OMIM number is 606693.

<span class="mw-page-title-main">USMG5</span> Protein-coding gene in the species Homo sapiens

Up-regulated during skeletal muscle growth protein 5 (USMG5), also known as ATP synthase membrane subunit DAPIT (ATP5MD), Diabetes-associated protein in insulin-sensitive tissues, or HCV F-transactivated protein 2 is a protein that in humans is encoded by the USMG5 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000159363 - Ensembl, May 2017
  2. 1 2 3 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. S2CID   6502952.
  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 (BBA) - Biomembranes. 1848 (8): 1646–55. doi: 10.1016/j.bbamem.2015.04.008 . hdl: 11336/82017 . 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. Bibcode:2012PLoSO...739942P. 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. S2CID   25893162.
  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. hdl: 11336/18027 . PMID   23205587.
  14. Online Mendelian Inheritance in Man (OMIM): ATPase, TYPE 13A2; ATP13A2 - 610513

Further reading