ATP13A2

From Wikipedia, the free encyclopedia

ATPase type 13A2

Identifiers

ATP13A2; HSA9947; KRPPD; PARK9

External IDs

OMIM: 610513 MGI: 1922022 HomoloGene: 56940

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • ATP binding • ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism • hydrolase activity • hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances • ATPase activity
Cellular Component:	• membrane • integral to membrane
Biological Process:	• transport • cation transport • metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_022089 (mRNA)
NP_071372 (protein)

NM_029097 (mRNA)
NP_083373 (protein)

Location

Chr 1: 17.19 - 17.21 Mb

n/a

Pubmed search

[1]

[2]

ATPase type 13A2, also known as ATP13A2, is a human gene.^[1]

[edit] References

^ Entrez Gene: ATP13A2 ATPase type 13A2.

[edit] Further reading

Hampshire DJ, Roberts E, Crow Y, et al. (2002). "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.". J. Med. Genet. 38 (10): 680-2. PMID 11584046.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Schultheis PJ, Hagen TT, O'Toole KK, et al. (2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice.". Biochem. Biophys. Res. Commun. 323 (3): 731-8. doi:10.1016/j.bbrc.2004.08.156. PMID 15381061.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315-21. doi:10.1038/nature04727. PMID 16710414.
Ramirez A, Heimbach A, Gründemann J, et al. (2006). "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.". Nat. Genet. 38 (10): 1184-91. doi:10.1038/ng1884. PMID 16964263.
Di Fonzo A, Chien HF, Socal M, et al. (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.