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ATPase, Class V, type 10A
Identifiers
Symbols ATP10A; ATP10C; ATPVA; ATPVC; KIAA0566
External IDs OMIM605855 MGI1330809 HomoloGene56461 GeneCards: ATP10A Gene
RNA expression pattern
PBB GE ATP10A 214255 at tn.png
PBB GE ATP10A 214256 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 57194 11982
Ensembl ENSG00000206190 ENSMUSG00000025324
UniProt O60312 Q3TA23
RefSeq (mRNA) NM_024490 NM_009728
RefSeq (protein) NP_077816 NP_033858
Location (UCSC) Chr 15:
23.47 - 23.66 Mb
Chr 7:
58.53 - 58.7 Mb
PubMed search [1] [2]

Probable phospholipid-transporting ATPase VA is an enzyme that in humans is encoded by the ATP10A gene.[1][2][3]

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]

References

  1. ^ 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. PMID 11015572.  
  2. ^ 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. PMID 9628581.  
  3. ^ a b "Entrez Gene: ATP10A ATPase, Class V, type 10A". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57194.  

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 Part B Neuropsychiatric Genetics 147b: 1008. 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. 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. 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.". Eur. J. Hum. Genet. 7 (6): 638–44. doi:10.1038/sj.ejhg.5200362. PMID 10482951.  
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