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    Elovl5 ELOVL fatty acid elongase 5 [ Mus musculus (house mouse) ]

    Gene ID: 68801, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Elovl5provided by MGI
    Official Full Name
    ELOVL fatty acid elongase 5provided by MGI
    Primary source
    MGI:MGI:1916051
    See related
    Ensembl:ENSMUSG00000032349 AllianceGenome:MGI:1916051
    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
    HELO1; 1110059L23Rik
    Summary
    Predicted to enable fatty acid elongase activity. Predicted to be involved in fatty acid biosynthetic process; positive regulation of fatty acid biosynthetic process; and sphingolipid biosynthetic process. Predicted to act upstream of or within fatty acid biosynthetic process. Predicted to be located in dendritic tree; endoplasmic reticulum; and neuronal cell body. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 38. Orthologous to human ELOVL5 (ELOVL fatty acid elongase 5). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in liver adult (RPKM 103.9), adrenal adult (RPKM 79.4) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Elovl5 in Genome Data Viewer
    Location:
    9 E1; 9 43.36 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (77824647..77891801)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (77917365..77984519)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3846 Neighboring gene glutamate-cysteine ligase, catalytic subunit Neighboring gene predicted gene, 34654 Neighboring gene STARR-seq mESC enhancer starr_24706 Neighboring gene STARR-positive B cell enhancer mm9_chr9:77758381-77758682 Neighboring gene STARR-positive B cell enhancer ABC_E6772 Neighboring gene STARR-positive B cell enhancer ABC_E2906 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:77766361-77766544 Neighboring gene STARR-positive B cell enhancer mm9_chr9:77778672-77778973 Neighboring gene predicted gene, 34771 Neighboring gene predicted gene, 34829 Neighboring gene predicted gene, 39375 Neighboring gene predicted gene, 23609

    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
    • 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. Effects of the administration of Elovl5-dependent fatty acids on a spino-cerebellar ataxia 38 mouse model. Balbo I, et al. Behav Brain Funct, 2022 Aug 6. PMID 35933444, Free PMC Article
    2. Elovl5 is required for proper action potential conduction along peripheral myelinated fibers. Hoxha E, et al. Glia, 2021 Oct. PMID 34139039, Free PMC Article
    3. Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice. Hoxha E, et al. Front Cell Neurosci, 2017. PMID 29163054, Free PMC Article
    4. Fatty acid elongase-5 (Elovl5) regulates hepatic triglyceride catabolism in obese C57BL/6J mice. Tripathy S, et al. J Lipid Res, 2014 Jul. PMID 24814977, Free PMC Article
    5. Elevated hepatic fatty acid elongase-5 activity corrects dietary fat-induced hyperglycemia in obese C57BL/6J mice. Tripathy S, et al. J Lipid Res, 2010 Sep. PMID 20488798, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion of Elovl5 leads to dyslipidemia and atherosclerosis in LDLR-deficient mice.
      Title: Deletion of Elovl5 leads to dyslipidemia and atherosclerosis in LDLR-deficient mice.
    2. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
      Title: Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
    3. Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.
      Title: Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.
    4. ELOVL5 expression was increased in cellular and mouse models of induced obesity-related diabetes.
      Title: Genome-wide methylation analysis identifies ELOVL5 as an epigenetic biomarker for the risk of type 2 diabetes mellitus.
    5. These studies establish that Elovl5 activity regulates hepatic levels of FAs controlling PPARbeta activity, ATGL expression, and TG catabolism, but not FA oxidation.
      Title: Fatty acid elongase-5 (Elovl5) regulates hepatic triglyceride catabolism in obese C57BL/6J mice.
    6. knockdown of Elovl5, Fads1, or Fads2 decreased the level of Mead acid.
      Title: Identification of genes and pathways involved in the synthesis of Mead acid (20:3n-9), an indicator of essential fatty acid deficiency.
    7. a novel link between Elovl5-mediated synthesis of 18:1,n-7 and GNG through the control of the mTORC2-Akt-FoxO1 pathway
      Title: Elovl5 regulates the mTORC2-Akt-FOXO1 pathway by controlling hepatic cis-vaccenic acid synthesis in diet-induced obese mice.
    8. Results establish a link between fatty acid elongation and hepatic glucose metabolism and suggest a role for regulators of Elovl5 activity in the treatment of diet-induced hyperglycemia.
      Title: Elevated hepatic fatty acid elongase-5 activity corrects dietary fat-induced hyperglycemia in obese C57BL/6J mice.
    9. reduced ELOVL5 activity leads to hepatic steatosis, and endogenously synthesized PUFAs are key regulators of SREBP-1c activation and fatty acid synthesis in liver
      Title: Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice.
    10. Elovl5-induced changes in hepatic fatty acid content affect multiple pathways regulating hepatic lipid and carbohydrate composition
      Title: Elevated hepatic fatty acid elongase-5 activity affects multiple pathways controlling hepatic lipid and carbohydrate composition.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (2)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables fatty acid elongase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty acid elongase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid elongation, monounsaturated fatty acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid elongation, monounsaturated fatty acid ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in fatty acid elongation, polyunsaturated fatty acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid elongation, polyunsaturated fatty acid ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in fatty acid elongation, saturated fatty acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sphingolipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in very long-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in very long-chain fatty acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendritic tree ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    very long chain fatty acid elongase 5
    Names
    3-keto acyl-CoA synthase Elovl5
    ELOVL FA elongase 5
    ELOVL family member 5, elongation of long chain fatty acids
    elongation of very long chain fatty acids protein 5
    fatty acid elongase 1
    homolog of yeast long chain polyunsaturated fatty acid elongation enzyme
    very long chain 3-ketoacyl-CoA synthase 5
    very long chain 3-oxoacyl-CoA synthase 5
    NP_599016.2
    XP_006511463.1
    XP_011241109.2
    XP_030100414.1

    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_134255.3 → NP_599016.2  very long chain fatty acid elongase 5

      See identical proteins and their annotated locations for NP_599016.2

      Status: VALIDATED

      Source sequence(s)
      AK045274, AK162451, CF748582
      Consensus CDS
      CCDS23355.1
      UniProtKB/Swiss-Prot
      Q8BHI7, Q8BLG6, Q8BUE3, Q8R5D3
      UniProtKB/TrEMBL
      X2EXE4
      Related
      ENSMUSP00000034904.8, ENSMUST00000034904.14
      Conserved Domains (1) summary
      pfam01151
      Location:27 → 261
      ELO; GNS1/SUR4 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_000075.7 Reference GRCm39 C57BL/6J

      Range
      77824647..77891801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244554.2 → XP_030100414.1  very long chain fatty acid elongase 5 isoform X1

      UniProtKB/TrEMBL
      X2EXE4
      Conserved Domains (1) summary
      pfam01151
      Location:68 → 302
      ELO; GNS1/SUR4 family

    2. XM_011242807.2 → XP_011241109.2  very long chain fatty acid elongase 5 isoform X3

      Conserved Domains (1) summary
      pfam01151
      Location:68 → 265
      ELO; GNS1/SUR4 family

    3. XM_006511400.1 → XP_006511463.1  very long chain fatty acid elongase 5 isoform X2

      See identical proteins and their annotated locations for XP_006511463.1

      UniProtKB/Swiss-Prot
      Q8BHI7, Q8BLG6, Q8BUE3, Q8R5D3
      UniProtKB/TrEMBL
      X2EXE4
      Conserved Domains (1) summary
      pfam01151
      Location:27 → 261
      ELO; GNS1/SUR4 family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BHI7.1 GenPept UniProtKB/Swiss-Prot:Q8BHI7

    Gene LinkOut

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

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