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Phospholipid-transporting ATPase VA
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<h2 id="function">Function</h2> <p>The protein encoded by <i>ATP10A</i> belongs to the family of P-type cation transport <a href="/facts/ATPase/8aEJlNgl">ATPases</a>, and to the subfamily of <a href="/facts/Phospholipid-translocating_ATPase/f65cLNSe">aminophospholipid-transporting ATPases</a>. The aminophospholipid translocases transport <a href="/facts/Phosphatidylserine/LLq1N91L">phosphatidylserine</a> and <a href="/facts/Phosphatidylethanolamine/A5Q6bSVk">phosphatidylethanolamine</a> from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for <a href="/facts/Angelman_syndrome/cYSFtQc0">Angelman syndrome</a>, also known as 'happy puppet syndrome'.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> </p> <h2 id="see-also">See also</h2> <ul><li><a href="/facts/Haloacid_dehydrogenase_superfamily/d4rVs9Fe">Haloacid dehydrogenase superfamily</a></li></ul> <h2 id="external-links">External links</h2> <ul><li>Human <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=ATP10A"><i>ATP10A</i></a> genome location and <a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=ATP10A"><i>ATP10A</i></a> gene details page in the <a href="/facts/UCSC_Genome_Browser/kwumPyLb">UCSC Genome Browser</a>.</li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Kato C, Tochigi M, Ohashi J, et al. (2008). "Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients". <i>American Journal of Medical Genetics</i>. 147B (7): 1008–12. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1002%2Fajmg.b.30690">10.1002/ajmg.b.30690</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/18186074">18186074</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:25223093">25223093</a>.</li> <li>Gerhard DS, Wagner L, Feingold EA, et al. (2004). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928">"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)"</a>. <i>Genome Res</i>. 14 (10B): 2121–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgr.2596504">10.1101/gr.2596504</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528928">528928</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15489334">15489334</a>.</li> <li>Strausberg RL, Feingold EA, Grouse LH, et al. (2003). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 99 (26): 16899–903. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M">2002PNAS...9916899M</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.242603899">10.1073/pnas.242603899</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">139241</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12477932">12477932</a>.</li> <li>Dhar M, Hauser L, Johnson D (2003). <a href="https://doi.org/10.1038%2Foby.2002.94">"An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes"</a>. <i>Obes. Res</i>. 10 (7): 695–702. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Foby.2002.94">10.1038/oby.2002.94</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12105293">12105293</a>.</li> <li>Herzing LB, Kim SJ, Cook EH, Ledbetter DH (2001). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226137">"The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression"</a>. <i>Am. J. Hum. Genet</i>. 68 (6): 1501–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1086%2F320616">10.1086/320616</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1226137">1226137</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11353404">11353404</a>.</li> <li>Meguro M, Kashiwagi A, Mitsuya K, et al. (2001). "A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome". <i>Nat. Genet</i>. 28 (1): 19–20. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F88209">10.1038/88209</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11326269">11326269</a>.</li> <li>Gillessen-Kaesbach G, Demuth S, Thiele H, et al. (1999). <a href="https://doi.org/10.1038%2Fsj.ejhg.5200362">"A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect"</a>. <i>European Journal of Human Genetics</i>. 7 (6): 638–44. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fsj.ejhg.5200362">10.1038/sj.ejhg.5200362</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10482951">10482951</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>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 (Oct 2000). "Differential expression of putative transbilayer amphipath transporters". Physiol Genomics. 1 (3): 139–50. doi:10.1152/physiolgenomics.1999.1.3.139. PMID 11015572. S2CID 762447. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 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. doi:10.1093/dnares/5.1.31. PMID 9628581. <a href="https://doi.org/10.1093%2Fdnares%2F5.1.31" target="_blank">https://doi.org/10.1093%2Fdnares%2F5.1.31</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"ATP10A - Phospholipid-transporting ATPase VA - Homo sapiens (Human) - ATP10A gene & protein". www.uniprot.org. Retrieved 9 April 2022. <a href="https://www.uniprot.org/uniprot/O60312" target="_blank">https://www.uniprot.org/uniprot/O60312</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>"Entrez Gene: ATP10A ATPase, Class V, type 10A". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57194" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57194</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> </ol>