Biology:ATP10A
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Probable phospholipid-transporting ATPase VA also known as ATPase class V type 10A (ATP10A) or aminophospholipid translocase VA is an enzyme that in humans is encoded by the ATP10A gene.[1][2][3]
Function
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'.[3]
See also
References
- ↑ "Differential expression of putative transbilayer amphipath transporters". Physiol Genomics 1 (3): 139–50. Oct 2000. doi:10.1152/physiolgenomics.1999.1.3.139. PMID 11015572.
- ↑ "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. Aug 1998. doi:10.1093/dnares/5.1.31. PMID 9628581.
- ↑ 3.0 3.1 "Entrez Gene: ATP10A ATPase, Class V, type 10A". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57194.
External links
- Human ATP10A genome location and ATP10A gene details page in the UCSC Genome Browser.
Further reading
- Kato C; Tochigi M; Ohashi J et al. (2008). "Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients". American Journal of Medical Genetics 147B (7): 1008–12. 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". Proceedings of the National Academy of Sciences of the United States of America 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- "An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes". Obes. Res. 10 (7): 695–702. 2003. doi:10.1038/oby.2002.94. PMID 12105293.
- "The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression". Am. J. Hum. Genet. 68 (6): 1501–5. 2001. doi:10.1086/320616. 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.
- 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". European Journal of Human Genetics 7 (6): 638–44. doi:10.1038/sj.ejhg.5200362. PMID 10482951.
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