ARV1 / YLR242C Overview


Standard Name
ARV1 1
Systematic Name
YLR242C
SGD ID
SGD:S000004232
Feature Type
ORF , Verified
Description
Cortical ER protein; implicated in the membrane insertion of tail-anchored C-terminal single transmembrane domain proteins; may function in transport of glycosylphosphatidylinositol intermediates into the ER lumen; required for normal intracellular sterol distribution; human ARV1, required for normal cholesterol and bile acid homeostasis, can complement yeast arv1 null mutant; human variant causing early onset epileptic encephalopathy is unable to rescue the yeast null 1 2 3 4 5 6 7
Name Description
ARE2 Required for Viability 1
Comparative Info
Sequence Details

Sequence

The S. cerevisiae Reference Genome sequence is derived from laboratory strain S288C. Download DNA or protein sequence, view genomic context and coordinates. Click "Sequence Details" to view all sequence information for this locus, including that for other strains.


Protein Details

Protein

Basic sequence-derived (length, molecular weight, isoelectric point) and experimentally-determined (median abundance, median absolute deviation) protein information. Click "Protein Details" for further information about the protein such as half-life, abundance, domains, domains shared with other proteins, protein sequence retrieval for various strains, physico-chemical properties, protein modification sites, and external identifiers for the protein.


Length (a.a.)
321
Mol. Weight (Da)
38205.6
Isoelectric Point
9.22
Median Abundance (molecules/cell)
1322 +/- 301

Alleles

Curated mutant alleles for the specified gene, listed alphabetically. Click on the allele name to open the allele page. Click "SGD search" to view all alleles in search results. Click "YeastMine" to view all alleles in YeastMine.


View all ARV1 alleles in SGD search | YeastMine

Gene Ontology Details

Gene Ontology

GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies (Molecular Function, Biological Process, and Cellular Component), a reference, and an evidence code. SGD has manually curated and high-throughput GO Annotations, both derived from the literature, as well as computational, or predicted, annotations. Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes.


Summary
Protein whose molecular function is unknown; implicated in GPI anchor biosynthesis and transport; also involved in intracellular sterol and sphingolipid transport; localized to the endoplasmic reticulum

View computational annotations

Molecular Function

Manually Curated

Biological Process

Manually Curated

Cellular Component

Manually Curated
Phenotype Details

Phenotype

Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. In addition, annotations are classified as classical genetics or high-throughput (e.g., large scale survey, systematic mutation set). Whenever possible, allele information and additional details are provided. Click "Phenotype Details" to view all phenotype annotations and evidence for this locus as well as phenotypes it shares with other genes.


Summary
Non-essential gene; null mutant shows abnormal ER and vacuolar morphology, defects in endocytosis and abnormal distribution of sterols and ceramides; in large-scale studies null mutant shows decreased competitive fitness
Disease Details

Disease

Disease Annotations consist of three mandatory components: a gene product, a term from the Disease Ontology (DO) controlled vocabulary and an evidence code. SGD provides manually curated DO Annotations derived from the literature. Click "Disease Details" to view all Disease information and evidence for this locus as well as diseases it shares with other genes.


Summary
ARV1 is orthologous to human ARV1 and has been used to study lipid storage disease and autosomal recessive early infantile epileptic encephalopathy
Interaction Details

Interaction

Interaction annotations are curated by BioGRID and include physical or genetic interactions observed between at least two genes. An interaction annotation is composed of the interaction type, name of the interactor, assay type (e.g., Two-Hybrid), annotation type (e.g., manual or high-throughput), and a reference, as well as other experimental details. Click "Interaction Details" to view all interaction annotations and evidence for this locus, including an interaction visualization.


865 total interactions for 520 unique genes

Physical Interactions

  • Affinity Capture-RNA: 1
  • Biochemical Activity: 3
  • PCA: 4
  • Reconstituted Complex: 1

Genetic Interactions

  • Dosage Rescue: 5
  • Negative Genetic: 630
  • Phenotypic Enhancement: 2
  • Phenotypic Suppression: 7
  • Positive Genetic: 185
  • Synthetic Growth Defect: 13
  • Synthetic Lethality: 10
  • Synthetic Rescue: 4
Regulation Details

Regulation

The number of putative Regulators (genes that regulate it) and Targets (genes it regulates) for the given locus, based on experimental evidence. This evidence includes data generated through high-throughput techniques. Click "Regulation Details" to view all regulation annotations, shared GO enrichment among regulation Targets, and a regulator/target diagram for the locus.


Summary
ARV1 encodes an integral membrane protein localized to cortical endoplasmic reticulum (ER). The exact molecular function of Arv1p is currently not known, but the protein has been shown by mutant analysis to be involved in various aspects of lipid homeostasis, including intracellular sterol distribution, triglyceride synthesis, sphingolipid metabolism, and biosynthesis of glycosylphosphatidylinositol (GPI) protein anchors. The primary role of Arv1p has been proposed to be in ensuring correct membrane insertion of C-terminal tail-anchored proteins that in turn affect the lipid bilayer organization of the cortical ER and the plasma membrane. The pleiotropic consequences of the arv1 null mutation may therefore be downstream effects of the altered membrane function. Consistent with the role of Arv1p in membrane maintenance, the ARV1 gene has been shown in large-scale studies to be upregulated under stress conditions that impact membranes. It is also a target of several stress-responsive transcription factors (Fkh1p, Xbp1p, Yap1p). The human ortholog ARV1, which complements the arv1 mutation in yeast, is a regulatory target of the peroxisome proliferator-activated receptor alpha (PPARalpha), a key regulator of lipid homeostasis, and modulation of ARV1 expression affects tissue sensitivity to lipids, a significant factor in obesity-related diseases.
Regulators
5
Targets
0
Expression Details

Expression

Expression data are derived from records contained in the Gene Expression Omnibus (GEO), and are first log2 transformed and normalized. Referenced datasets may contain one or more condition(s), and as a result there may be a greater number of conditions than datasets represented in a single clickable histogram bar. The histogram division at 0.0 separates the down-regulated (green) conditions and datasets from those that are up-regulated (red). Click "Expression Details" to view all expression annotations and details for this locus, including a visualization of genes that share a similar expression pattern.


Literature Details

Literature

All manually curated literature for the specified gene, organized into topics according to their relevance to the gene (Primary Literature, Additional Literature, or Review). Click "Literature Details" to view all literature information for this locus, including shared literature between genes.


Primary
35
Additional
22
Reviews
18

Resources