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
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.
Analyze Sequence
S288C only
BLASTN | BLASTP | Design Primers | Restriction Fragment Map | Restriction Fragment Sizes | Six-Frame Translation
S288C vs. other species
BLASTN vs. fungi | BLASTP at NCBI | BLASTP vs. fungi
S288C vs. other strains
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.
View all ARV1 alleles in SGD search
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
- enables zinc ion binding (RCA)
Biological Process
- Manually Curated
- involved in endocytosis (IMP)
- involved in ER to Golgi ceramide transport (IMP)
- involved in GPI anchor biosynthetic process (IMP)
- involved in intracellular sterol transport (IMP)
- involved in regulation of plasma membrane sterol distribution (IMP)
- involved in sphingolipid biosynthetic process (IMP)
- involved in sterol import (IGI, IMP)
Cellular Component
- Manually Curated
- located in cortical endoplasmic reticulum (IDA)
- located in endoplasmic reticulum (HDA, IDA)
- located in Golgi apparatus (IDA)
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
Classical Genetics
- null
- chemical compound accumulation: decreased
- chemical compound accumulation: increased
- chitin deposition: increased
- cold sensitivity: increased
- endocytosis: decreased
- endoplasmic reticulum morphology: abnormal
- flocculation: abnormal
- heat sensitivity: increased
- mating efficiency: decreased
- protein/peptide accumulation: decreased
- protein/peptide accumulation: increased
- protein/peptide distribution: abnormal
- protein/peptide modification: decreased
- protein/peptide modification: increased
- resistance to chemicals: decreased
- small molecule transport: decreased
- vacuolar morphology: abnormal
- reduction of function
- null
- alkaline pH resistance: decreased
- auxotrophy
- chemical compound accumulation: increased
- chronological lifespan: decreased
- chronological lifespan: increased
- competitive fitness: decreased
- competitive fitness: increased
- desiccation resistance: decreased
- endoplasmic reticulum morphology: abnormal
- fermentative growth: decreased rate
- heat sensitivity: increased
- innate thermotolerance: decreased
- killer toxin resistance: increased
- metal resistance: increased
- protein transport: abnormal
- protein/peptide accumulation: increased
- resistance to chemicals: decreased
- resistance to chemicals: increased
- resistance to chemicals: normal
- resistance to enzymatic treatment: decreased
- telomere length: decreased
- transposable element transposition: decreased
- vacuolar morphology: abnormal
- vegetative growth: absent
- vegetative growth: decreased rate
- viable
- overexpression
Large-scale Survey
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
Manually Curated
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.
867 total interactions for 521 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: 9
- Positive Genetic: 185
- Synthetic Growth Defect: 13
- Synthetic Lethality: 10
- Synthetic Rescue: 4
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
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
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.