ARV1

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 eukaryotes, and in Saccharomyces cerevisiae yeast, is required for viability. Arv1^-/- knockout mice 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 causes epileptic encephalopathy in infants.d^[6] Arv1^-/- mice corroborate this observation.^[6] In yeast knockouts, supplanting human ARV1 through plasmid transfection rescues cells from death.^[7]

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)[1] Band 1q42.2 Start 230,978,981 bp[1] End 231,000,733 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E2 Start 125,448,878 bp[2] End 125,460,862 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 64801 68865 Ensembl ENSG00000173409 ENSMUSG00000031982 UniProt Q9H2C2 Q9D0U9 RefSeq (mRNA) NM_022786 NM_001346992 NM_026855 NM_001368372 RefSeq (protein) NP_001333921 NP_073623 NP_081131 NP_001355301 Location (UCSC) Chr 1: 230.98 – 231 Mb Chr 8: 125.45 – 125.46 Mb PubMed search [3] [4]
Wikidata
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