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

    Gene ID: 68865, updated on 2-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 10.0), ovary adult (RPKM 7.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mice lacking ARV1 have reduced signs of metabolic syndrome and non-alcoholic fatty liver disease. Gallo-Ebert C, et al. J Biol Chem, 2018 Apr 20. PMID 29491146, Free PMC Article
    2. Deletion of murine Arv1 results in a lean phenotype with increased energy expenditure. Lagor WR, et al. Nutr Diabetes, 2015 Oct 19. PMID 26479315, Free PMC Article
    3. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Palmer EE, et al. Hum Mol Genet, 2016 Jul 15. PMID 27270415, Free PMC Article
    4. 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. Ruggles KV, et al. J Biol Chem, 2014 Feb 14. PMID 24273168, Free PMC Article
    5. Decreased expression of ARV1 results in cholesterol retention in the endoplasmic reticulum and abnormal bile acid metabolism. Tong F, et al. J Biol Chem, 2010 Oct 29. PMID 20663892, Free PMC Article

    See all (19) citations in PubMed

    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

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    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

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    Preferred Names
    protein ARV1

    NCBI Reference Sequences (RefSeq)

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    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.

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