ATP10A

From Wikipedia, the free encyclopedia

ATPase, Class V, type 10A

Identifiers

ATP10A; ATP10C; ATPVA; ATPVC; KIAA0566

External IDs

OMIM: 605855 MGI: 1330809 HomoloGene: 56461

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • phospholipid-translocating ATPase activity • ATP binding • ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism • hydrolase activity • ATPase activity
Cellular Component:	• membrane • integral to membrane
Biological Process:	• transport • cation transport • regulation of cell shape

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_024490 (mRNA)
NP_077816 (protein)

NM_009728 (mRNA)
NP_033858 (protein)

Location

Chr 15: 23.47 - 23.66 Mb

Chr 7: 58.53 - 58.7 Mb

Pubmed search

[1]

[2]

ATPase, Class V, type 10A, also known as ATP10A, is a human gene.^[1]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'.^[1]

[edit] References

^ ^a ^b Entrez Gene: ATP10A ATPase, Class V, type 10A.

[edit] Further reading

Kato C, Tochigi M, Ohashi J, et al.. "Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients.". doi:10.1002/ajmg.b.30690. PMID 18186074.
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.
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.
Dhar M, Hauser L, Johnson D (2003). "An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.". Obes. Res. 10 (7): 695-702. PMID 12105293.
Herzing LB, Kim SJ, Cook EH, Ledbetter DH (2001). "The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.". Am. J. Hum. Genet. 68 (6): 1501-5. PMID 11353404.
Meguro M, Kashiwagi A, Mitsuya K, et al. (2001). "A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.". Nat. Genet. 28 (1): 19-20. doi:10.1038/88209. PMID 11326269.
Halleck MS, Lawler JF JR, Blackshaw S, et al. (2001). "Differential expression of putative transbilayer amphipath transporters.". Physiol. Genomics 1 (3): 139-50. PMID 11015572.
Gillessen-Kaesbach G, Demuth S, Thiele H, et al. (1999). "A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.". Eur. J. Hum. Genet. 7 (6): 638-44. doi:10.1038/sj.ejhg.5200362. PMID 10482951.
Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 5 (1): 31-9. PMID 9628581.