Phospholipid-transporting ATPase VA

ATP10A

Identifiers

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]

Band	15q12	Start	25,677,273 bp^[1]
Band	15q12	End	25,865,184 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7\|7 B5	Start	58,305,914 bp^[2]
Band	7\|7 B5	End	58,479,168 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

endothelial cell

ascending aorta

inferior olivary nucleus

glomerulus

metanephric glomerulus

left coronary artery

right coronary artery

upper lobe of left lung

pancreatic epithelial cell

visceral pleura

Top expressed in

cumulus cell

spermatid

adrenal gland

thymus

internal carotid artery

seminiferous tubule

substantia nigra

fossa

ascending aorta

Paneth cell

More reference expression data

BioGPS


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

Species

Human

Mouse

Entrez


57194


11982

Ensembl


ENSG00000206190


ENSMUSG00000025324

UniProt


O60312


O54827

RefSeq (mRNA)


NM_024490


NM_009728

RefSeq (protein)


NP_077816


NP_033858

Location (UCSC)

Chr 15: 25.68 – 25.87 Mb

Chr 7: 58.31 – 58.48 Mb

PubMed search

^[3]

^[4]

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.^[5]^[6]^[7]

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

^ ^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 & 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.

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.

Hydrolases: acid anhydride hydrolases (EC 3.6)

3.6.1

3.6.2

3.6.3-4: ATPase

3.6.3

Cu++ (3.6.3.4)	Menkes/ATP7A Wilson/ATP7B
Ca+ (3.6.3.8)	SERCA ATP2A1 ATP2A2 ATP2A3 Plasma membrane ATP2B1 ATP2B2 ATP2B3 ATP2B4 SPCA ATP2C1 ATP2C2
Na+/K+ (3.6.3.9)	ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP1B4
H+/K+ (3.6.3.10)	ATP4A
Other P-type ATPase	ATP8B1 ATP10A ATP11B ATP12A ATP13A2 ATP13A3

3.6.4

3.6.5: GTPase

3.6.5.1: Heterotrimeric G protein	G_αs G_olf G_αi GNAI1 GNAI2 GNAI3 Transducin GNAT1 GNAT2 Gustducin GNAT3 G_αq/11 GNAQ GNA11 G_α12/13 GNA12 GNA13
3.6.5.2: Small GTPase > Ras superfamily	Rho family of GTPases: Cdc42 CDC42 TC10 TCL RhoUV RhoU RhoV Rac Rac1 2 3 RhoG RhoBTB 1 2 RhoH Rho A B C Rnd 1 2 3 RhoDF RhoF RhoD other: Ras HRAS KRAS NRAS Rab RAB23 RAB27 Arf ARF6 SAR1B ARL13B ARL6 Ran Rheb Rap RGK
3.6.5.3: Protein-synthesizing GTPase	Prokaryotic IF-2 EF-Tu EF-G Eukaryotic
3.6.5.5-6: Polymerization motors	dynamin superfamily Dynamin Guanylate-binding protein Mitofusin-1 MX1 and MX2 OPA1 Tubulin

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited 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)

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This page was last edited on 8 November 2023, at 14:23

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Function

See also

References

External links

Further reading