U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Arv1 ARV1 homolog, fatty acid homeostasis modulator [ Mus musculus (house mouse) ]

Gene ID: 68865, updated on 18-Sep-2024

Summary

Go to the top of the page Help
Official Symbol
Arv1provided by MGI
Official Full Name
ARV1 homolog, fatty acid homeostasis modulatorprovided by MGI
Primary source
MGI:MGI:1916115
See related
Ensembl:ENSMUSG00000031982 AllianceGenome:MGI:1916115
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110067L22Rik
Summary
Acts upstream of or within bile acid metabolic process and regulation of cholesterol metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus and cortical endoplasmic reticulum. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 38. Orthologous to human ARV1 (ARV1 homolog, fatty acid homeostasis modulator). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 10.0), ovary adult (RPKM 7.3) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Arv1 in Genome Data Viewer
Location:
8 E2; 8 72.81 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (125448765..125469533)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (124722026..124742794)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 13 Neighboring gene predicted gene, 46058 Neighboring gene predicted gene, 30273 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127246145-127246328 Neighboring gene family with sequence similarity 89, member A Neighboring gene general transcription factor IIB pseudogene Neighboring gene predicted gene, 46059

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Arv1-/- animals fed a high-fat diet were resistant to diet-induced obesity, had lower blood cholesterol and triglyceride levels, and retained glucose tolerance and insulin sensitivity.
    Title: Mice lacking ARV1 have reduced signs of metabolic syndrome and non-alcoholic fatty liver disease.
  2. In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy
    Title: Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
  3. These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism.
    Title: A functional, genome-wide evaluation of liposensitive yeast identifies the "ARE2 required for viability" (ARV1) gene product as a major component of eukaryotic fatty acid resistance.
  4. Arv1p has a role in sterol movement from the ER and in the ensuing regulation of hepatic cholesterol and bile acid metabolism
    Title: Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

Pathways from PubChem

Go to the top of the page

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within bile acid metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cholesterol transport ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in intracellular sterol transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular sterol transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cholesterol metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cholesterol metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of intracellular cholesterol transport ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of intracellular cholesterol transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of plasma membrane sterol distribution IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sphingolipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cortical endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

Go to the top of the page Help
Preferred Names
protein ARV1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001368372.1 → NP_001355301.1  protein ARV1

    Status: VALIDATED

    Source sequence(s)
    AC151736
    Consensus CDS
    CCDS22774.1
    UniProtKB/Swiss-Prot
    Q8BY08, Q9D0U9
    UniProtKB/TrEMBL
    Q0VBH5
    Conserved Domains (1) summary
    pfam04161
    Location:28 → 217
    Arv1; Arv1-like family

  2. NM_026855.5 → NP_081131.1  protein ARV1

    See identical proteins and their annotated locations for NP_081131.1

    Status: VALIDATED

    Source sequence(s)
    AC151736
    Consensus CDS
    CCDS22774.1
    UniProtKB/Swiss-Prot
    Q8BY08, Q9D0U9
    UniProtKB/TrEMBL
    Q0VBH5
    Related
    ENSMUSP00000034463.4, ENSMUST00000034463.4
    Conserved Domains (1) summary
    pfam04161
    Location:28 → 217
    Arv1; Arv1-like family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    125448765..125469533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011248496.3 → XP_011246798.1  protein ARV1 isoform X1

    See identical proteins and their annotated locations for XP_011246798.1

    UniProtKB/Swiss-Prot
    Q8BY08, Q9D0U9
    UniProtKB/TrEMBL
    Q0VBH5
    Conserved Domains (1) summary
    pfam04161
    Location:28 → 217
    Arv1; Arv1-like family

  2. XM_006531337.4 → XP_006531400.1  protein ARV1 isoform X1

    See identical proteins and their annotated locations for XP_006531400.1

    UniProtKB/Swiss-Prot
    Q8BY08, Q9D0U9
    UniProtKB/TrEMBL
    Q0VBH5
    Conserved Domains (1) summary
    pfam04161
    Location:28 → 217
    Arv1; Arv1-like family
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D0U9.1 GenPept UniProtKB/Swiss-Prot:Q9D0U9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous