ARV1

Last updated
ARV1
Identifiers
Aliases ARV1 , ARV1 homolog (S. cerevisiae), ARV1 homolog, fatty acid homeostasis modulator, EIEE38
External IDs MGI: 1916115 HomoloGene: 41498 GeneCards: ARV1
Gene location (Human)
Ideogram human chromosome 1.svg
Chr. Chromosome 1 (human) [1]
Human chromosome 1 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 1q42.2Start230,978,981 bp [1]
End231,000,733 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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: 124.72 – 124.73 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]

Protein Biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene Basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

Eukaryote Taxonomic group whose members have complex structures enclosed within membranes

Eukaryotes are organisms whose cells have a nucleus enclosed within membranes, unlike prokaryotes, which have no membrane-bound organelles. Eukaryotes belong to the domain Eukaryota or Eukarya. Their name comes from the Greek εὖ and κάρυον. Eukaryotic cells also contain other membrane-bound organelles such as mitochondria and the Golgi apparatus, and in addition, some cells of plants and algae contain chloroplasts. Unlike unicellular archaea and bacteria, eukaryotes may also be multicellular and include organisms consisting of many cell types forming different kinds of tissue. Animals and plants are the most familiar eukaryotes.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000173409 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031982 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. 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. PMID   26479315.
  6. 1 2 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. PMID   27270415.
  7. 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.

Further reading