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    Elovl1 ELOVL fatty acid elongase 1 [ Mus musculus (house mouse) ]

    Gene ID: 54325, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Elovl1provided by MGI
    Official Full Name
    ELOVL fatty acid elongase 1provided by MGI
    Primary source
    MGI:MGI:1858959
    See related
    Ensembl:ENSMUSG00000006390 AllianceGenome:MGI:1858959
    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
    Ssc1
    Summary
    Predicted to enable fatty acid elongase activity. Involved in ceramide biosynthetic process and establishment of skin barrier. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in brain; epidermis; epidermis stratum granulosum; epidermis stratum spinosum; and skin. Orthologous to human ELOVL1 (ELOVL fatty acid elongase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lung adult (RPKM 166.7), stomach adult (RPKM 78.7) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Elovl1 in Genome Data Viewer
    Location:
    4 D2.1; 4 54.61 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (118285321..118290150)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (118426874..118432953)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene hydroxypyruvate isomerase (putative) Neighboring gene SZT2 subunit of KICSTOR complex Neighboring gene STARR-positive B cell enhancer ABC_E1281 Neighboring gene mediator complex subunit 8 Neighboring gene STARR-positive B cell enhancer ABC_E6202 Neighboring gene cell division cycle 20 Neighboring gene myeloproliferative leukemia virus oncogene Neighboring gene tyrosine kinase with immunoglobulin-like and EGF-like domains 1

    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. Involvement of ω-O-acylceramides and protein-bound ceramides in oral permeability barrier formation. Sassa T, et al. Cell Rep, 2023 Apr 25. PMID 37054712
    2. Widespread tissue distribution and synthetic pathway of polyunsaturated C24:2 sphingolipids in mammals. Edagawa M, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2018 Dec. PMID 30251650
    3. Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice. Sassa T, et al. FASEB J, 2018 Jun. PMID 29401594
    4. A shift in sphingolipid composition from C24 to C16 increases susceptibility to apoptosis in HeLa cells. Sassa T, et al. Biochim Biophys Acta, 2012 Jul. PMID 22579584
    5. Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice. Honda Y, et al. J Invest Dermatol, 2018 Apr. PMID 29174370

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Production of branched-chain very-long-chain fatty acids by fatty acid elongases and their tissue distribution in mammals.
      Title: Production of branched-chain very-long-chain fatty acids by fatty acid elongases and their tissue distribution in mammals.
    2. Elongation of VLCFAs (ELOVL)1 is primarily responsible for the production of saturated VLCFAs, whereas ELOVL1, ELOVL3, and ELOVL4 redundantly participate in the synthesis of monounsaturated VLCFAs.
      Title: Very long-chain tear film lipids produced by fatty acid elongase ELOVL1 prevent dry eye disease in mice.
    3. Elovl1 is a key determinant of epidermal ceramide chain length and is essential for permeability barrier formation.
      Title: Impaired epidermal permeability barrier in mice lacking elovl1, the gene responsible for very-long-chain fatty acid production.
    4. elucidation of structure and regulation
      Title: Elovl1 and p55Cdc genes are localized in a tail-to-tail array and are co-expressed in proliferating cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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
    involved_in ceramide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of skin barrier IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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, saturated fatty acid IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid elongation, saturated fatty acid ISO
    Inferred from Sequence Orthology
    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 sphingolipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingolipid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sphingolipid biosynthetic process ISO
    Inferred from Sequence Orthology
    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 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
    		  

    General protein information

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    Preferred Names
    very long chain fatty acid elongase 1
    Names
    3-keto acyl-CoA synthase Elovl1
    ELOVL FA elongase 1
    elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1
    elongation of very long chain fatty acids protein 1
    sequence similarity to Cig30 1
    very long chain 3-ketoacyl-CoA synthase 1
    very long chain 3-oxoacyl-CoA synthase 1
    NP_001034264.1
    NP_001034265.1
    NP_001411916.1
    NP_001411917.1
    NP_001411918.1
    NP_062295.1

    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_001039175.3 → NP_001034264.1  very long chain fatty acid elongase 1 isoform 2

      See identical proteins and their annotated locations for NP_001034264.1

      Status: VALIDATED

      Source sequence(s)
      AL627212
      Consensus CDS
      CCDS18550.1
      UniProtKB/TrEMBL
      Q4V9V3, Q9WU14
      Related
      ENSMUSP00000099734.5, ENSMUST00000102673.11
      Conserved Domains (1) summary
      pfam01151
      Location:3 → 183
      ELO; GNS1/SUR4 family

    2. NM_001039176.3 → NP_001034265.1  very long chain fatty acid elongase 1 isoform 1

      See identical proteins and their annotated locations for NP_001034265.1

      Status: VALIDATED

      Source sequence(s)
      AL627212
      Consensus CDS
      CCDS18549.1
      UniProtKB/Swiss-Prot
      Q9D1B2, Q9JLJ5
      UniProtKB/TrEMBL
      Q548M4
      Related
      ENSMUSP00000064816.4, ENSMUST00000067896.4
      Conserved Domains (1) summary
      pfam01151
      Location:23 → 260
      ELO; GNS1/SUR4 family

    3. NM_001424987.1 → NP_001411916.1  very long chain fatty acid elongase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL627212
      UniProtKB/TrEMBL
      Q4V9V3

    4. NM_001424988.1 → NP_001411917.1  very long chain fatty acid elongase 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL627212
      UniProtKB/Swiss-Prot
      Q9D1B2, Q9JLJ5
      UniProtKB/TrEMBL
      Q548M4

    5. NM_001424989.1 → NP_001411918.1  very long chain fatty acid elongase 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL627212

    6. NM_019422.4 → NP_062295.1  very long chain fatty acid elongase 1 isoform 1

      See identical proteins and their annotated locations for NP_062295.1

      Status: VALIDATED

      Source sequence(s)
      AL627212
      Consensus CDS
      CCDS18549.1
      UniProtKB/Swiss-Prot
      Q9D1B2, Q9JLJ5
      UniProtKB/TrEMBL
      Q548M4
      Related
      ENSMUSP00000006557.7, ENSMUST00000006557.13
      Conserved Domains (1) summary
      pfam01151
      Location:23 → 260
      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_000070.7 Reference GRCm39 C57BL/6J

      Range
      118285321..118290150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JLJ5.1 GenPept UniProtKB/Swiss-Prot:Q9JLJ5

    Gene LinkOut

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

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