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 ATP10Agene.[5][6][7]
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'.[8]
^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.
^"ATP10A - Phospholipid-transporting ATPase VA - Homo sapiens (Human) - ATP10A gene & protein". www.uniprot.org. Retrieved 9 April 2022.
Human ATP10A genome location and ATP10A gene details page in the UCSC Genome Browser.
Further readingedit
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. S2CID 25223093.
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. PMC528928. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. doi:10.1038/oby.2002.94. 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. doi:10.1086/320616. PMC1226137. 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.
phospholipid, transporting, atpase, also, known, atpase, class, type, aminophospholipid, translocase, enzyme, that, humans, encoded, atp10a, gene, atp10aidentifiersaliasesatp10a, atp10c, atpva, atpvc, atpase, phospholipid, transporting, putative, external, ids. 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 5 6 7 ATP10AIdentifiersAliasesATP10A ATP10C ATPVA ATPVC ATPase phospholipid transporting 10A putative External IDsOMIM 605855 MGI 1330809 HomoloGene 56461 GeneCards ATP10AGene location Human Chr Chromosome 15 human 1 Band15q12Start25 677 273 bp 1 End25 865 184 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 7 B5Start58 305 914 bp 2 End58 479 168 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellascending aortainferior olivary nucleusglomerulusmetanephric glomerulusleft coronary arteryright coronary arteryupper lobe of left lungpancreatic epithelial cellvisceral pleuraTop expressed incumulus cellspermatidadrenal glandthymusinternal carotid arteryseminiferous tubulesubstantia nigrafossaascending aortaPaneth cellMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionnucleotide binding protein binding hydrolase activity ATP binding magnesium ion binding metal ion binding ATPase coupled intramembrane lipid transporter activityCellular componentintegral component of membrane plasma membrane endoplasmic reticulum endoplasmic reticulum membrane membraneBiological processphospholipid transport ion transmembrane transport lipid transport phospholipid translocation regulation of cell shapeSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5719411982EnsemblENSG00000206190ENSMUSG00000025324UniProtO60312O54827RefSeq mRNA NM 024490NM 009728RefSeq protein NP 077816NP 033858Location UCSC Chr 15 25 68 25 87 MbChr 7 58 31 58 48 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 See also 3 References 4 External links 5 Further readingFunction editThe 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 8 See also editHaloacid dehydrogenase superfamilyReferences edit a b c GRCh38 Ensembl release 89 ENSG00000206190 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025324 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 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 ATP10A Phospholipid transporting ATPase VA Homo sapiens Human ATP10A gene amp protein www uniprot org Retrieved 9 April 2022 Entrez Gene ATP10A ATPase Class V type 10A External links editHuman ATP10A genome location and ATP10A gene details page in the UCSC Genome Browser Further reading editKato 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 S2CID 25223093 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 PMC 528928 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 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 doi 10 1038 oby 2002 94 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 doi 10 1086 320616 PMC 1226137 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 Portal nbsp Biology nbsp This article on a gene on human chromosome 15 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Phospholipid transporting ATPase VA amp oldid 1184128753, wikipedia, wiki, book, books, library,
