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

Gene ID: 68801, updated on 27-Nov-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 be located in dendritic tree; endoplasmic reticulum; and neuronal cell body. Predicted to be active in 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, Nov 2024]
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. Elevated hepatic fatty acid elongase-5 activity affects multiple pathways controlling hepatic lipid and carbohydrate composition. Wang Y, et al. J Lipid Res, 2008 Jul. PMID 18376007, Free PMC Article
  2. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. Ferrero E, et al. Hum Genet, 2023 Aug. PMID 37199746, Free PMC Article
  3. 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
  4. 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
  5. Elovl5 is required for proper action potential conduction along peripheral myelinated fibers. Hoxha E, et al. Glia, 2021 Oct. PMID 34139039, Free PMC Article

See all (41) 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.
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Variation

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Alleles

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

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 fatty acid elongase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
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, monounsaturated fatty acid ISS
Inferred from Sequence or Structural Similarity
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, polyunsaturated fatty acid ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in fatty acid elongation, saturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid elongation, saturated fatty acid IEA
Inferred from Electronic Annotation
more info
  
involved_in long-chain fatty-acyl-CoA biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of fatty acid biosynthetic 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 unsaturated fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
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
  
involved_in very long-chain fatty acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in dendritic tree ISO
Inferred from Sequence Orthology
more info
  
located_in dendritic tree ISS
Inferred from Sequence or Structural Similarity
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 endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
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

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