Phospholipid-transporting ATPase VA

ATP10A
Identifiers
Aliases	ATP10A, ATP10C, ATPVA, ATPVC, ATPase phospholipid transporting 10A (putative)
External IDs	OMIM: 605855; MGI: 1330809; HomoloGene: 56461; GeneCards: ATP10A; OMA:ATP10A - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	25,865,184 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	58,479,168 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; Descending thoracic aorta; ; ascending aorta; ; tibial arteries; ; dorsal motor nucleus of vagus nerve; ; inferior olivary nucleus; ; glomerulus; ; metanephric glomerulus; ; left coronary artery; ; right coronary artery;
	Top expressed in
	cumulus cell; ; spermatid; ; gastrula; ; adrenal gland; ; thymus; ; internal carotid artery; ; seminiferous tubule; ; decidua; ; endothelial cell of lymphatic vessel; ; substantia nigra;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; protein binding; hydrolase activity; ATP binding; magnesium ion binding; metal ion binding; ATPase-coupled intramembrane lipid transporter activity;
Cellular component	integral component of membrane; plasma 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

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.⁵⁶⁷

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'.⁸

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. 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 & protein". www.uniprot.org. Retrieved 9 April 2022.
"Entrez Gene: ATP10A ATPase, Class V, type 10A".

External links

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

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. 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.

[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. S2CID 762447.

[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.

[uniprot-7] "ATP10A - Phospholipid-transporting ATPase VA - Homo sapiens (Human) - ATP10A gene & protein". www.uniprot.org. Retrieved 9 April 2022.

[entrez-8] "Entrez Gene: ATP10A ATPase, Class V, type 10A".

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Function

See also

References

External links

Further reading