ARV1: Difference between revisions

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{{Infobox gene}}
{{Infobox gene}}
'''Acyl-coA acyltransferase-related enzyme 2 required for viability''' is a [[protein]] that in humans is encoded by the '''ARV1''' [[gene]]. It is involved in lipid trafficking. ARV1 is ubiquitously expressed in higher [[Eukaryote|eukaryotes]], and in ''[[Saccharomyces cerevisiae]]'' yeast, is required for viability. Arv1<sup>-/-</sup> [[Knockout mouse|knockout]] mice display a phenotype with reduced white adipose and favorable blood lipid profiles on a chow diet.<ref>{{cite journal | vauthors = Lagor WR, Tong F, Jarrett KE, Lin W, Conlon DM, Smith M, Wang MY, Yenilmez BO, McCoy MG, Fields DW, O'Neill SM, Gupta R, Kumaravel A, Redon V, Ahima RS, Sturley SL, Billheimer JT, Rader DJ | title = Deletion of murine Arv1 results in a lean phenotype with increased energy expenditure | journal = Nutrition & Diabetes | volume = 5 | issue = 10 | pages = e181 | date = October 2015 | pmid = 26479315 | doi = 10.1038/nutd.2015.32 }}</ref> ARV1 is hypothesized to be involved in neurodevelopment, as a splice variant of ARV1 with a 40 amino acid truncation causes [[Epilepsy|epileptic]] encephalopathy in infants.d<ref name="Palmer_2016">{{cite journal | vauthors = Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR | title = Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy | journal = Human Molecular Genetics | volume = 25 | issue = 14 | pages = 3042–3054 | date = July 2016 | pmid = 27270415 | doi = 10.1093/hmg/ddw157 }}</ref> Arv1<sup>-/-</sup> mice corroborate this observation.<ref name="Palmer_2016" /> In yeast knockouts, supplanting human ARV1 through plasmid transfection rescues cells from death.<ref>{{cite journal | vauthors = Swain E, Stukey J, McDonough V, Germann M, Liu Y, Sturley SL, Nickels JT | title = Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 39 | pages = 36152–60 | date = September 2002 | pmid = 12145310 | doi = 10.1074/jbc.m206624200 }}</ref>
'''ARV1 homolog (S. cerevisiae)''' is a [[protein]] in humans that is encoded by the ARV1 [[gene]].
<ref name="entrez">
{{cite web
| title = Entrez Gene: ARV1 homolog (S. cerevisiae)
| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=64801
| accessdate = 2013-03-14 <!-- T10:53:27.580430-08:00 -->
}}</ref>


== References ==
== References ==

Latest revision as of 10:43, 1 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

ARV1 homolog (S. cerevisiae) is a protein in humans that is encoded by the ARV1 gene. [1]

References

  1. "Entrez Gene: ARV1 homolog (S. cerevisiae)". Retrieved 2013-03-14.

Further reading