ATP10A

ATP10A
Identifiers
Aliases	ATP10A, ATP10C, ATPVA, ATPVC, ATPase phospholipid transporting 10A (putative)
External IDs	OMIM: 605855 MGI: 1330809 HomoloGene: 56461 GeneCards: ATP10A
Gene location (Human)
Chr.	Chromosome 15 (human)[1]
End	25,865,184 bp[1]
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)[2]
End	58,829,420 bp[2]
RNA expression pattern
	; ;
	More reference expression data
Gene ontology
Molecular function	• nucleotide binding; • GO:0001948 protein binding; • hydrolase activity; • ATP binding; • magnesium ion binding; • metal ion binding; • GO:0004012 ATPase-coupled intramembrane lipid transporter activity;
Cellular component	• integral component of membrane; • cell membrane; • endoplasmic reticulum; • endoplasmic reticulum membrane; • membrane;
Biological process	• phospholipid transport; • ion transmembrane transport; • lipid transport; • phospholipid translocation; • regulation of cell shape;
	Sources:Amigo / QuickGO
Orthologs
	57194
	11982
	ENSG00000206190
	ENSMUSG00000025324
	O60312
	O54827
	NM_024490
	NM_009728
	NP_077816
	NP_033858
	Wikidata
View/Edit Human	View/Edit Mouse

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.[5][6][7]

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'.[7]

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References

GRCh38: Ensembl release 89: ENSG00000206190 - Ensembl, May 2017
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.
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.
"Entrez Gene: ATP10A ATPase, Class V, type 10A".

External links

Human ATP10A genome location and ATP10A gene details page in the UCSC Genome Browser.

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. 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. 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000206190 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025324 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11015572-5] 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.

[pmid9628581-6] 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.

[entrez-7] "Entrez Gene: ATP10A ATPase, Class V, type 10A".

Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

ATP10A

Function

See also

References

External links

Further reading