ARV1

ARV1
Identifiers
Aliases	ARV1,ARV1 homolog (S. cerevisiae), ARV1 homolog, fatty acid homeostasis modulator, EIEE38, DEE38
External IDs	OMIM:611647;MGI:1916115;HomoloGene:41498;GeneCards:ARV1;OMA:ARV1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	231,000,733bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	125,460,862bp
RNA expressionpattern
	Top expressed in
	cardiac muscle tissue of right atrium; ; myocardium of left ventricle; ; parotid gland; ; skin of arm; ; tibialis anterior muscle; ; mucosa of ileum; ; pancreatic epithelial cell; ; right ventricle; ; deltoid muscle; ; pons;
	Top expressed in
	yolk sac; ; neural layer of retina; ; spermatocyte; ; epiblast; ; embryo; ; neural tube; ; tail of embryo; ; lens; ; ventricular zone; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	sterol transporter activity;
Cellular component	integral component of membrane; membrane; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; cortical endoplasmic reticulum;
Biological process	cholesterol transport; cholesterol biosynthetic process; lipid metabolism; bile acid metabolic process; lipid transport; steroid metabolic process; cholesterol metabolic process; regulation of intracellular cholesterol transport; regulation of cholesterol metabolic process; sphingolipid metabolic process; regulation of plasma membrane sterol distribution; sterol metabolic process; intracellular sterol transport;
	Sources:Amigo/QuickGO
Orthologs
	64801
	68865
	ENSG00000173409
	ENSMUSG00000031982
	Q9H2C2
	Q9D0U9
	NM_022786; NM_001346992
	NM_026855; NM_001368372
	NP_001333921; NP_073623
	NP_081131; NP_001355301
	Wikidata
View/Edit Human	View/Edit Mouse

Acyl-coA acyltransferase-related enzyme 2 required for viabilityis aproteinthat in humans is encoded by theARV1gene.It is involved in lipid trafficking. ARV1 is ubiquitously expressed in highereukaryotes,and inSaccharomyces cerevisiaeyeast, is required for viability. Arv1^-/-knockoutmice display a phenotype with reduced white adipose and favorable blood lipid profiles on a chow diet.^[5]ARV1 is hypothesized to be involved in neurodevelopment, as a splice variant of ARV1 with a 40 amino acid truncation causesepilepticencephalopathy in infants.d^[6]Arv1^-/-mice corroborate this observation.^[6]In yeast knockouts, supplanting human ARV1 through plasmid transfection rescues cells from death.^[7]

References

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000173409–Ensembl,May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000031982–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.
^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 (October 2015)."Deletion of murine Arv1 results in a lean phenotype with increased energy expenditure".Nutrition & Diabetes.5(10): e181.doi:10.1038/nutd.2015.32.PMC4631934.PMID 26479315.
^^a ^bPalmer 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 (July 2016)."Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy".Human Molecular Genetics.25(14): 3042–3054.doi:10.1093/hmg/ddw157.PMC5181598.PMID 27270415.
^Swain E, Stukey J, McDonough V, Germann M, Liu Y, Sturley SL, Nickels JT (September 2002)."Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1".The Journal of Biological Chemistry.277(39): 36152–60.doi:10.1074/jbc.m206624200.PMID 12145310.

References

Further reading