ARV1

Protein-coding gene in the species Homo sapiens

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]
Band	1q42.2	End	231,000,733 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 8 (mouse)^[2]

Band	8\|8 E2	Start	125,448,878 bp^[2]
Band	8\|8 E2	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

View/Edit Human

View/Edit Mouse

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000173409 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: 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. PMC 4631934. PMID 26479315.
^ ^a ^b 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 (July 2016). "Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy". Human Molecular Genetics. 25 (14): 3042–3054. doi:10.1093/hmg/ddw157. PMC 5181598. 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.