ATP13A2

ATP13A2
Identifiers
Aliases	ATP13A2, CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2, SPG78, ATPase cation transporting 13A2
External IDs	MGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	17,011,928 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	141,007,330 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• nucleotide binding; • metal ion binding; • ATPase activity; • protein binding; • hydrolase activity; • ATP binding; • cupric ion binding; • phosphatidic acid binding; • zinc ion binding; • phosphatidylinositol-3,5-bisphosphate binding; • manganese ion binding; • calcium-transporting ATPase activity; • cation-transporting ATPase activity;
Cellular component	• integral component of membrane; • membrane; • vesicle membrane; • integral component of plasma membrane; • transport vesicle; • lysosomal lumen; • lysosome; • vesicle; • multivesicular body; • neuron projection; • integral component of lysosomal membrane; • multivesicular body membrane; • autophagosome; • late endosome; • neuronal cell body; • lysosomal membrane;
Biological process	• cellular cation homeostasis; • cation transport; • ion transmembrane transport; • regulation of autophagy of mitochondrion; • regulation of autophagosome size; • regulation of endopeptidase activity; • regulation of mitochondrion organization; • cellular response to oxidative stress; • cellular calcium ion homeostasis; • cellular response to manganese ion; • cellular iron ion homeostasis; • protein autophosphorylation; • cellular zinc ion homeostasis; • polyamine import; • autophagosome organization; • regulation of glucosylceramidase activity; • regulation of chaperone-mediated autophagy; • negative regulation of neuron death; • zinc ion homeostasis; • regulation of macroautophagy; • regulation of intracellular protein transport; • positive regulation of protein secretion; • positive regulation of exosomal secretion; • peptidyl-aspartic acid autophosphorylation; • negative regulation of lysosomal protein catabolic process; • cellular response to zinc ion; • calcium ion transmembrane transport; • ATP hydrolysis coupled cation transmembrane transport; • regulation of lysosomal protein catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	23400
	74772
	ENSG00000159363
	ENSMUSG00000036622
	Q9NQ11; Q8N4D4
	Q9CTG6
	NM_001141973; NM_001141974; NM_022089
	NM_001164366; NM_029097
	NP_001135445; NP_001135446; NP_071372; NP_001135445.1; NP_001135446.1
	NP_001157838; NP_083373
	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. However, it potentiates the toxic effects of cadmium and nickel on developing neurites.^[10]

Deficiency is associated with spastic paraplegia and Kufor-Rakeb syndrome, in which there is progressive parkinsonism with dementia.^[11]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000159363 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036622 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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.
↑ 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.
↑ "Entrez Gene: ATP13A2 ATPase type 13A2".
↑ 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.
↑ 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.
↑ 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.
↑ "OMIM Entry 610513 - ATPase, TYPE 13A2; ATP13A2". OMIM. Retrieved 2017-04-15.

External links

Human ATP13A2 genome location and ATP13A2 gene details page in the UCSC Genome Browser.

ATP13A2

References

External links

Further reading