ATP13A2

ATP13A2
Identifiers
Aliases	ATP13A2, CLN12, HSA9947, KRPPD, PARK9, ATPase 13A2
External IDs	MGI: 1922022 HomoloGene: 56940 GeneCards: ATP13A2
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 • cation-transporting ATPase activity • manganese ion binding Cellular component • integral component of membrane • membrane • vesicle membrane • integral component of plasma membrane • transport vesicle • lysosomal membrane • lysosomal lumen • lysosome • vesicle • multivesicular body • neuron projection • integral component of lysosomal membrane • multivesicular body membrane • autophagosome • late endosome • neuronal cell body Biological process • cellular cation homeostasis • cation transport • ion transmembrane transport • regulation of mitophagy • regulation of autophagosome size • cation transmembrane transport • regulation of endopeptidase activity • regulation of cellular protein catabolic process • 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 • regulation of lysosomal protein catabolic process • cellular response to zinc ion Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
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_001135445.1 NP_001135446.1 NP_071372.1 NP_001135445.1 NP_001135446.1	NP_083373.2
Location (UCSC)	Chr 1: 16.99 – 17.01 Mb	Chr 4: 140.99 – 141.01 Mb
PubMed search	[1]	[2]
Wikidata

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Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene.^[3][4][5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE (Oct 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.
4. 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 (Oct 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.
5. "Entrez Gene: ATP13A2 ATPase type 13A2".

Further reading

• Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG (Oct 2001). "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36". Journal of Medical Genetics. 38 (10): 680–2. doi:10.1136/jmg.38.10.680. PMC 1734748. PMID 11584046.
• 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 (May 2007). "ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease". Neurology. 68 (19): 1557–62. doi:10.1212/01.wnl.0000260963.08711.08. PMID 17485642.