Phospholipid-transporting ATPase VA explained
Phospholipid-transporting ATPase VA also known as ATPase class V type 10A or aminophospholipid translocase VA is an enzyme that in humans is encoded by the ATP10A gene.[1] [2] [3]
Function
The protein encoded by ATP10A 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'.[4]
See also
Further reading
- Kato C . Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients . American Journal of Medical Genetics. 147B. 7. 1008–12. 2008. 18186074 . 10.1002/ajmg.b.30690 . vanc. Tochigi M . Ohashi J . 3 . Koishi . Shinko . Kawakubo . Yuki . Yamamoto . Kenji . Matsumoto . Hideo . Hashimoto . Ohiko . Kim . Soo-Yung . 25223093 .
- Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
- Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
- Dhar M, Hauser L, Johnson D . An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes . Obes. Res. . 10 . 7 . 695–702 . 2003 . 12105293 . 10.1038/oby.2002.94 . free .
- Herzing LB, Kim SJ, Cook EH, Ledbetter DH . 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 . 11353404 . 10.1086/320616 . 1226137 .
- Meguro M . A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome . Nat. Genet. . 28 . 1 . 19–20 . 2001 . 11326269 . 10.1038/88209 . vanc. Kashiwagi A . Mitsuya K . 3 . Nakao . Mitsuyoshi . Kondo . Ikuko . Saitoh . Shinji . Oshimura . Mitsuo .
- Gillessen-Kaesbach G . 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 . 1999 . 10482951 . 10.1038/sj.ejhg.5200362 . vanc. Demuth S . Thiele H . 3 . Theile . Ursel . Lich . Christina . Horsthemke . Bernhard . free.
Notes and References
- Halleck MS, Lawler JF JR, Blackshaw S, Gao L, Nagarajan P, Hacker C, Pyle S, Newman JT, Nakanishi Y, Ando H, Weinstock D, Williamson P, Schlegel RA . Differential expression of putative transbilayer amphipath transporters . Physiol Genomics . 1 . 3 . 139–50 . Oct 2000 . 11015572 . 10.1152/physiolgenomics.1999.1.3.139. 762447 .
- Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 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 . 9628581 . 10.1093/dnares/5.1.31 . free .
- Web site: ATP10A - Phospholipid-transporting ATPase VA - Homo sapiens (Human) - ATP10A gene & protein . www.uniprot.org . 9 April 2022 . en.
- Web site: Entrez Gene: ATP10A ATPase, Class V, type 10A.