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{{Infobox_gene}}
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'''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.<ref name="pmid15381061">{{cite journal | vauthors = Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE | title = Characterization of the P5 subfamily of P-type transport ATPases in mice | journal = Biochemical and Biophysical Research Communications | volume = 323 | issue = 3 | pages = 731–8 | date = October 2004 | pmid = 15381061 | pmc =  | doi = 10.1016/j.bbrc.2004.08.156 }}</ref><ref name="pmid16964263">{{cite journal | vauthors = 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 | title = Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase | journal = Nature Genetics | volume = 38 | issue = 10 | pages = 1184–91 | date = October 2006 | pmid = 16964263 | pmc =  | doi = 10.1038/ng1884 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATP13A2 ATPase type 13A2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23400| accessdate = }}</ref> It appears to protect cells from [[manganese]]<ref>{{cite journal | vauthors = Tan J, Zhang T, Jiang L, Chi J, Hu D, Pan Q, Wang D, Zhang Z | title = Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein | language = en | journal = The Journal of Biological Chemistry | volume = 286 | issue = 34 | pages = 29654–62 | date = August 2011 | pmid = 21724849 | pmc = 3191006 | doi = 10.1074/jbc.M111.233874 }}</ref> and zinc toxicity,<ref>{{cite journal | vauthors = Tsunemi T, Krainc D | title = Zn²⁺ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation | journal = Human Molecular Genetics | volume = 23 | issue = 11 | pages = 2791–801 | date = June 2014 | pmid = 24334770 | pmc = 4014186 | doi = 10.1093/hmg/ddt572 }}</ref> possibly by causing cellular efflux and/or lysosomal sequestration. However, it potentiates the toxic effects of cadmium and nickel on developing neurites.<ref>{{cite journal | vauthors = Podhajska A, Musso A, Trancikova A, Stafa K, Moser R, Sonnay S, Glauser L, Moore DJ | title = Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism | journal = PLoS One | volume = 7 | issue = 6 | pages = e39942 | date = 2012-06-29 | pmid = 22768177 | pmc = 3386943 | doi = 10.1371/journal.pone.0039942 }}</ref>
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Deficiency is associated with spastic paraplegia and [[Kufor–Rakeb syndrome|Kufor-Rakeb syndrome]], in which there is progressive parkinsonism with dementia.<ref>{{cite web | url = https://www.omim.org/entry/610513 | title = OMIM Entry 610513 - ATPase, TYPE 13A2; ATP13A2 | work = OMIM | access-date=2017-04-15}}</ref>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = ATPase type 13A2
| HGNCid = 30213
| Symbol = ATP13A2
| AltSymbols =; HSA9947; KRPPD; PARK9
| OMIM = 610513
| ECnumber = 
| Homologene = 56940
| MGIid = 1922022
| GeneAtlas_image1 = PBB_GE_ATP13A2_218608_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0015662 |text = ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0016820 |text = hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006812 |text = cation transport}} {{GNF_GO|id=GO:0008152 |text = metabolic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23400
    | Hs_Ensembl = ENSG00000159363
    | Hs_RefseqProtein = NP_071372
    | Hs_RefseqmRNA = NM_022089
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 17185040
    | Hs_GenLoc_end = 17210997
    | Hs_Uniprot = Q9NQ11
    | Mm_EntrezGene = 74772
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_029097
    | Mm_RefseqProtein = NP_083373
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''ATPase type 13A2''', also known as '''ATP13A2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ATP13A2 ATPase type 13A2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23400| accessdate = }}</ref>


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== References ==
{{PBB_Summary
{{reflist}}
| section_title =
| summary_text =
}}


==References==
== External links ==
{{reflist|2}}
* {{UCSC gene info|ATP13A2}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG | title = Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 | journal = Journal of Medical Genetics | volume = 38 | issue = 10 | pages = 680–2 | date = October 2001 | pmid = 11584046 | pmc = 1734748 | doi = 10.1136/jmg.38.10.680 }}
| citations =
* {{cite journal | vauthors = Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER, Bonifati V | title = ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease | journal = Neurology | volume = 68 | issue = 19 | pages = 1557–62 | date = May 2007 | pmid = 17485642 | doi = 10.1212/01.wnl.0000260963.08711.08 }}
*{{cite journal | author=Hampshire DJ, Roberts E, Crow Y, ''et al.'' |title=Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. |journal=J. Med. Genet. |volume=38 |issue= 10 |pages= 680-2 |year= 2002 |pmid= 11584046 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Schultheis PJ, Hagen TT, O'Toole KK, ''et al.'' |title=Characterization of the P5 subfamily of P-type transport ATPases in mice. |journal=Biochem. Biophys. Res. Commun. |volume=323 |issue= 3 |pages= 731-8 |year= 2004 |pmid= 15381061 |doi= 10.1016/j.bbrc.2004.08.156 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal  | author=Ramirez A, Heimbach A, Gründemann J, ''et al.'' |title=Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. |journal=Nat. Genet. |volume=38 |issue= 10 |pages= 1184-91 |year= 2006 |pmid= 16964263 |doi= 10.1038/ng1884 }}
*{{cite journal  | author=Di Fonzo A, Chien HF, Socal M, ''et al.'' |title=ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. |journal=Neurology |volume=68 |issue= 19 |pages= 1557-62 |year= 2007 |pmid= 17485642 |doi= 10.1212/01.wnl.0000260963.08711.08 }}
}}
{{refend}}
{{refend}}


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Latest revision as of 02:16, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[1][2][3] It appears to protect cells from manganese[4] and zinc toxicity,[5] possibly by causing cellular efflux and/or lysosomal sequestration. However, it potentiates the toxic effects of cadmium and nickel on developing neurites.[6]

Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.[7]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ "Entrez Gene: ATP13A2 ATPase type 13A2".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ "OMIM Entry 610513 - ATPase, TYPE 13A2; ATP13A2". OMIM. Retrieved 2017-04-15.

External links

Further reading


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