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

Summary

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

Location:: 4q25

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (110045846..110199202, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (113347937..113500908, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (110967002..111119771, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
). 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.
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.
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.
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.
Elovl6 expression is significantly downregulated in human lung with idiopathic pulmonary fibrosis.
Title: Deranged fatty acid composition causes pulmonary fibrosis in Elovl6-deficient mice.
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G33626 (e-PCR)
- UniSTS:53021

D4S482 (e-PCR)
- UniSTS:12840

RH47998 (e-PCR)
- UniSTS:20267

D4S2528E (e-PCR)
- UniSTS:40774

st44i23SP6_nih (e-PCR)
- UniSTS:181357

SHGC-19835 (e-PCR)
- UniSTS:34939

SHGC-59866 (e-PCR)
- UniSTS:29823

STS-N35799 (e-PCR)
- UniSTS:69260

SHGC-30110 (e-PCR)
- UniSTS:60312

SHGC-50284 (e-PCR)
- UniSTS:58788

SHGC-67274 (e-PCR)
- UniSTS:23973

SHGC-24798 (e-PCR)
- UniSTS:946

SHGC-34005 (e-PCR)
- UniSTS:21442

SHGC-16331 (e-PCR)
- UniSTS:31455

Homology

Homologs of the ELOVL6 gene: The ELOVL6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 450 organisms have orthologs with human gene ELOVL6
Orthologs

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
enables very-long-chain 3-ketoacyl-CoA synthase activity	IEA Inferred from Electronic Annotation more info

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
is_active_in integral component of endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor 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

EC 2.3.1.199

NP_076995.1

EC 2.3.1.199

XP_011530535.1

EC 2.3.1.199

XP_011530536.1

EC 2.3.1.199

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.