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

Gene ID: 79071, updated on 7-Sep-2023

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
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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_2023_03 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (110045846..110199202, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (113347937..113501499, complement)
105.20220307 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 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 RNA, U6 small nuclear 35, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:110972146-110973345 Neighboring gene RNA, 7SL, cytoplasmic 275, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3955 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
  • 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 a negative clinical predictor for liver cancer and knockdown of Elovl6 reduces murine liver cancer progression. Su YC, et al. Sci Rep, 2018 Apr 26. PMID 29700319, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. 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

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. ). 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.
  6. 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.
  7. 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.
  8. 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.
  9. Elovl6 expression is significantly downregulated in human lung with idiopathic pulmonary fibrosis.
    Title: Deranged fatty acid composition causes pulmonary fibrosis in Elovl6-deficient mice.
  10. Elovl6 expression is positively correlated with severity of hepatosteatosis and liver injury in NASH patients.
    Title: Elovl6 promotes nonalcoholic steatohepatitis.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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
 PubMed 
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
 PubMed 
involved_in fatty acid elongation, polyunsaturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in fatty acid elongation, saturated fatty acid IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
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
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
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
elongation of very long chain fatty acids protein 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)
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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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  elongation of very long chain fatty acids protein 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
    UniProtKB/TrEMBL
    A0A024RDK5, A1LV06
    Related
    ENSP00000378105.3, ENST00000394607.7
    Conserved Domains (1) summary
    pfam01151
    Location:25 → 260
    ELO; GNS1/SUR4 family

  2. NM_024090.3 → NP_076995.1  elongation of very long chain fatty acids protein 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
    UniProtKB/TrEMBL
    A0A024RDK5, A1LV06
    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_2023_03

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  elongation of very long chain fatty acids protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011530535.1

    UniProtKB/Swiss-Prot
    Q4W5L0, Q8NCD1, Q9H5J4
    UniProtKB/TrEMBL
    A0A024RDK5, A1LV06
    Conserved Domains (1) summary
    pfam01151
    Location:25 → 260
    ELO; GNS1/SUR4 family

  2. XM_011532234.4 → XP_011530536.1  elongation of very long chain fatty acids protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011530536.1

    UniProtKB/Swiss-Prot
    Q4W5L0, Q8NCD1, Q9H5J4
    UniProtKB/TrEMBL
    A0A024RDK5, A1LV06
    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  elongation of very long chain fatty acids protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q4W5L0, Q8NCD1, Q9H5J4
    UniProtKB/TrEMBL
    A1LV06

  2. XM_054350816.1 → XP_054206791.1  elongation of very long chain fatty acids protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q4W5L0, Q8NCD1, Q9H5J4
    UniProtKB/TrEMBL
    A1LV06
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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