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    ELOVL6 ELOVL fatty acid elongase 6 [ Homo sapiens (human) ]

    Gene ID: 79071, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ELOVL6provided by HGNC
    Official Full Name
    ELOVL fatty acid elongase 6provided by HGNC
    Primary source
    HGNC:HGNC:15829
    See related
    Ensembl:ENSG00000170522 MIM:611546; AllianceGenome:HGNC:15829
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAE; LCE; FACE; hELO2
    Summary
    Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in liver (RPKM 11.9), stomach (RPKM 8.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ELOVL6 in Genome Data Viewer
    Location:
    4q25
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (110045846..110199202, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (113347937..113501499, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110967002..111119771, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene keratin 19 pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71901 Neighboring gene epidermal growth factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:110900995-110902194 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:110909878-110911077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21813 Neighboring gene RNA, U6 small nuclear 35, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:110972146-110973345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21814 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71960 Neighboring gene RNA, 7SL, cytoplasmic 275, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15628 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:111119352-111120144 Neighboring gene Sharpr-MPRA regulatory region 7468 Neighboring gene uncharacterized LOC124900759 Neighboring gene CRISPRi-validated cis-regulatory element chr4.2510 Neighboring gene heat shock factor binding protein 1 pseudogene 2 Neighboring gene RNF14 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ELOVL6 is associated with immunosuppression in lung adenocarcinoma through bioinformatics analysis. Chen B, et al. Medicine (Baltimore), 2023 Sep 8. PMID 37682172, Free PMC Article
    2. Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus. Liu Y, et al. Braz J Med Biol Res, 2013 Jul. PMID 23903678, Free PMC Article
    3. Fatty acid elongation in non-alcoholic steatohepatitis and hepatocellular carcinoma. Kessler SM, et al. Int J Mol Sci, 2014 Apr 4. PMID 24714086, Free PMC Article
    4. Phospholipid profiling identifies acyl chain elongation as a ubiquitous trait and potential target for the treatment of lung squamous cell carcinoma. Marien E, et al. Oncotarget, 2016 Mar 15. PMID 26862848, Free PMC Article
    5. Lead discovery for mammalian elongation of long chain fatty acids family 6 using a combination of high-throughput fluorescent-based assay and RapidFire mass spectrometry assay. Takamiya M, et al. Biochem Biophys Res Commun, 2016 Nov 25. PMID 27793673

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELOVL6 promotes the progression of head and neck squamous cell carcinoma via activating WNT/beta-catenin pathway.
      Title: ELOVL6 promotes the progression of head and neck squamous cell carcinoma via activating WNT/β-catenin pathway.
    2. ELOVL6 is associated with immunosuppression in lung adenocarcinoma through bioinformatics analysis.
      Title: ELOVL6 is associated with immunosuppression in lung adenocarcinoma through bioinformatics analysis.
    3. 33 ELOVL6 mutations were found with a new variant in the promoter region, though no mutation in the coding region was found. However no mutations were found that largely deviated in allele frequency as compared with healthy Japanese individuals.
      Title: FADS2 and ELOVL6 mutation frequencies in Japanese Crohn's disease patients.
    4. our results indicate that Elovl6 enhances oncogenic activity in liver cancer and is associated with poor prognosis in patients with HCC. Elovl6 may be a therapeutic target for HCC
      Title: Elovl6 is a negative clinical predictor for liver cancer and knockdown of Elovl6 reduces murine liver cancer progression.
    5. Functional screening...revealed ELOVL6 as the main elongation enzyme responsible for acyl chain elongation in lung cancer squamous cell carcinoma cancer cells
      Title: Phospholipid profiling identifies acyl chain elongation as a ubiquitous trait and potential target for the treatment of lung squamous cell carcinoma.
    6. Ultra-high-throughput fluorescence screening followed by a RapidFire mass spectrometry assay was a suitable strategy for lead discovery against Elovl6.
      Title: Lead discovery for mammalian elongation of long chain fatty acids family 6 using a combination of high-throughput fluorescent-based assay and RapidFire mass spectrometry assay.
    7. ). In conclusion, we found an interaction between the HLA-Cw6 and LCE genotypes on disease improvement among psoriatic patients treated with anti-TNFs.
      Title: The Cw6 and late-cornified envelope genotype plays a significant role in anti-tumor necrosis factor response among psoriatic patients.
    8. KAR regulates ELOVL6 via two modes; KAR may induce conformational changes in ELOVL6; conversion of 3-ketoacyl-CoA to 3-hydroxyacyl-CoA by KAR may facilitate release of the product from the ELOVL6-KAR complex.
      Title: Two modes of regulation of the fatty acid elongase ELOVL6 by the 3-ketoacyl-CoA reductase KAR in the fatty acid elongation cycle.
    9. human liver samples from patients with Non-alcoholic steatohepatitis or Non-alcoholic steatohepatitis-related hepatocellular carcinoma showed an elevated expression of the elongase ELOVL6, which is responsible for the elongation of C16 fatty acids.
      Title: Fatty acid elongation in non-alcoholic steatohepatitis and hepatocellular carcinoma.
    10. The study indicated that the ELOVL6 gene polymorphism rs12504538 is associated with an increased risk of T2DM, because it causes an increase in insulin resistance.
      Title: Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • MGC5487, FLJ23378

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fatty acid elongase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty acid elongase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables fatty acid elongase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables fatty acid elongase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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, 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid elongation, saturated fatty acid IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in long-chain fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in long-chain fatty-acyl-CoA biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of fatty acid elongase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    very long chain fatty acid elongase 6
    Names
    3-keto acyl-CoA synthase ELOVL6
    ELOVL FA elongase 6
    ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
    elongation of very long chain fatty acids protein 6
    fatty acid elongase 2
    fatty acyl-CoA elongase
    long-chain fatty-acyl elongase
    very long chain 3-ketoacyl-CoA synthase 6
    very long chain 3-oxoacyl-CoA synthase 6
    NP_001124193.1
    NP_076995.1
    XP_011530535.1
    XP_011530536.1
    XP_054206791.1
    XP_054206792.1

    NCBI Reference Sequences (RefSeq)

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    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_001130721.2 → NP_001124193.1  very long chain fatty acid elongase 6

      See identical proteins and their annotated locations for NP_001124193.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AC004050, BC001305, BE539688, BP314858, DB368351, H65618
      Consensus CDS
      CCDS3690.1
      UniProtKB/Swiss-Prot
      Q4W5L0, Q8NCD1, Q9H5J4
      Related
      ENSP00000378105.3, ENST00000394607.7
      Conserved Domains (1) summary
      pfam01151
      Location:25 → 260
      ELO; GNS1/SUR4 family

    2. NM_024090.3 → NP_076995.1  very long chain fatty acid elongase 6

      See identical proteins and their annotated locations for NP_076995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AC004050, AK027031, BC001305, BE539688, DB368351, H65618
      Consensus CDS
      CCDS3690.1
      UniProtKB/Swiss-Prot
      Q4W5L0, Q8NCD1, Q9H5J4
      Related
      ENSP00000304736.3, ENST00000302274.8
      Conserved Domains (1) summary
      pfam01151
      Location:25 → 260
      ELO; GNS1/SUR4 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      110045846..110199202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532233.4 → XP_011530535.1  very long chain fatty acid elongase 6 isoform X1

      See identical proteins and their annotated locations for XP_011530535.1

      UniProtKB/Swiss-Prot
      Q4W5L0, Q8NCD1, Q9H5J4
      Conserved Domains (1) summary
      pfam01151
      Location:25 → 260
      ELO; GNS1/SUR4 family

    2. XM_011532234.4 → XP_011530536.1  very long chain fatty acid elongase 6 isoform X1

      See identical proteins and their annotated locations for XP_011530536.1

      UniProtKB/Swiss-Prot
      Q4W5L0, Q8NCD1, Q9H5J4
      Conserved Domains (1) summary
      pfam01151
      Location:25 → 260
      ELO; GNS1/SUR4 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      113347937..113501499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350817.1 → XP_054206792.1  very long chain fatty acid elongase 6 isoform X1

      UniProtKB/Swiss-Prot
      Q4W5L0, Q8NCD1, Q9H5J4

    2. XM_054350816.1 → XP_054206791.1  very long chain fatty acid elongase 6 isoform X1

      UniProtKB/Swiss-Prot
      Q4W5L0, Q8NCD1, Q9H5J4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5J4.1 GenPept UniProtKB/Swiss-Prot:Q9H5J4

    Gene LinkOut

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

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