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Aliases for ELOVL6 Gene

Aliases for ELOVL6 Gene

  • ELOVL Fatty Acid Elongase 6 2 3 4 5
  • ELOVL Family Member 6, Elongation Of Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3-Like, Yeast) 2 3
  • Very Long Chain 3-Ketoacyl-CoA Synthase 6 3 4
  • Very Long Chain 3-Oxoacyl-CoA Synthase 6 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL6 3 4
  • Long-Chain Fatty-Acyl Elongase 3 4
  • Fatty Acyl-CoA Elongase 3 4
  • Fatty Acid Elongase 2 3 4
  • ELOVL FA Elongase 6 3 4
  • HELO2 3 4
  • FACE 3 4
  • LCE 3 4
  • Very-Long-Chain 3-Oxoacyl-CoA Synthase 6 3
  • EC 2.3.1.199 4
  • FAE 3

External Ids for ELOVL6 Gene

Previous GeneCards Identifiers for ELOVL6 Gene

  • GC04M111363
  • GC04M111429
  • GC04M111328
  • GC04M111189
  • GC04M110968
  • GC04M106702

Summaries for ELOVL6 Gene

Entrez Gene Summary for ELOVL6 Gene

  • 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]

GeneCards Summary for ELOVL6 Gene

ELOVL6 (ELOVL Fatty Acid Elongase 6) is a Protein Coding gene. Diseases associated with ELOVL6 include common bile duct disease. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transferase activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot for ELOVL6 Gene

  • Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELOVL6 Gene

Genomics for ELOVL6 Gene

Regulatory Elements for ELOVL6 Gene

Promoters for ELOVL6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELOVL6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELOVL6 Gene

Chromosome:
4
Start:
110,045,846 bp from pter
End:
110,199,199 bp from pter
Size:
153,354 bases
Orientation:
Minus strand

Genomic View for ELOVL6 Gene

Genes around ELOVL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELOVL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELOVL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL6 Gene

Proteins for ELOVL6 Gene

  • Protein details for ELOVL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5J4-ELOV6_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 6
    Protein Accession:
    Q9H5J4
    Secondary Accessions:
    • Q4W5L0
    • Q8NCD1

    Protein attributes for ELOVL6 Gene

    Size:
    265 amino acids
    Molecular mass:
    31376 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11225.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ELOVL6 Gene

Proteomics data for ELOVL6 Gene at MOPED

Post-translational modifications for ELOVL6 Gene

Other Protein References for ELOVL6 Gene

Antibody Products

No data available for DME Specific Peptides for ELOVL6 Gene

Domains & Families for ELOVL6 Gene

Protein Domains for ELOVL6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ELOVL6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H5J4

UniProtKB/Swiss-Prot:

ELOV6_HUMAN :
  • Belongs to the ELO family. ELOVL6 subfamily.
Family:
  • Belongs to the ELO family. ELOVL6 subfamily.
genes like me logo Genes that share domains with ELOVL6: view

No data available for Gene Families for ELOVL6 Gene

Function for ELOVL6 Gene

Molecular function for ELOVL6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate to the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Enzyme Numbers (IUBMB) for ELOVL6 Gene

Gene Ontology (GO) - Molecular Function for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20937905
genes like me logo Genes that share ontologies with ELOVL6: view
genes like me logo Genes that share phenotypes with ELOVL6: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELOVL6 Gene

Localization for ELOVL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL6 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELOVL6 Gene COMPARTMENTS Subcellular localization image for ELOVL6 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 2
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with ELOVL6: view

Pathways & Interactions for ELOVL6 Gene

genes like me logo Genes that share pathways with ELOVL6: view

UniProtKB/Swiss-Prot Q9H5J4-ELOV6_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Interacting Proteins for ELOVL6 Gene

Gene Ontology (GO) - Biological Process for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ELOVL6: view

No data available for SIGNOR curated interactions for ELOVL6 Gene

Drugs & Compounds for ELOVL6 Gene

(2) Drugs for ELOVL6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
malonyl-coa Experimental Pharma 0
Coenzyme A Nutra 0

(3) Additional Compounds for ELOVL6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Oxooctadecanoyl-CoA
  • 3-Ketostearoyl-coa
  • 3-Ketostearoyl-coenzyme A
  • 3-Oxostearoyl-CoA
  • 3-Oxostearoyl-Coenzyme A
  • beta-Ketostearoyl-CoA
86370-20-9
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
hexadecanoyl-CoA
genes like me logo Genes that share compounds with ELOVL6: view

Transcripts for ELOVL6 Gene

Unigene Clusters for ELOVL6 Gene

ELOVL fatty acid elongase 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL6 Gene

No ASD Table

Relevant External Links for ELOVL6 Gene

GeneLoc Exon Structure for
ELOVL6
ECgene alternative splicing isoforms for
ELOVL6

Expression for ELOVL6 Gene

mRNA expression in normal human tissues for ELOVL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELOVL6 Gene

This gene is overexpressed in Liver (x4.3).

Protein differential expression in normal tissues from HIPED for ELOVL6 Gene

This gene is overexpressed in Liver (57.9) and Platelet (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ELOVL6 Gene



SOURCE GeneReport for Unigene cluster for ELOVL6 Gene Hs.412939

mRNA Expression by UniProt/SwissProt for ELOVL6 Gene

Q9H5J4-ELOV6_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ELOVL6: view

Protein tissue co-expression partners for ELOVL6 Gene

Primer Products

In Situ Assay Products

Orthologs for ELOVL6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ELOVL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELOVL6 35
  • 100 (n)
  • 100 (a)
ELOVL6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MGC139109 36
  • 94 (a)
OneToOne
ELOVL6 35
  • 94.3 (n)
  • 94.68 (a)
dog
(Canis familiaris)
Mammalia ELOVL6 35
  • 95.97 (n)
  • 98.11 (a)
ELOVL6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elovl6 16
Elovl6 36
  • 96 (a)
OneToOne
Elovl6 35
  • 93.21 (n)
  • 96.98 (a)
oppossum
(Monodelphis domestica)
Mammalia ELOVL6 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL6 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102549542 35
  • 93.33 (n)
  • 96.6 (a)
chicken
(Gallus gallus)
Aves ELOVL6 36
  • 75 (a)
OneToOne
ELOVL6 35
  • 88.55 (n)
  • 92.08 (a)
lizard
(Anolis carolinensis)
Reptilia ELOVL6 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl6 35
  • 81.38 (n)
  • 90.19 (a)
Str.11921 35
zebrafish
(Danio rerio)
Actinopterygii elovl6 36
  • 84 (a)
OneToOne
elovl6 35
  • 80.03 (n)
  • 86.26 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006520 35
  • 57.71 (n)
  • 49.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta Baldspot 35
  • 56.29 (n)
  • 48.25 (a)
Baldspot 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea elo-3 35
  • 51.12 (n)
  • 43.08 (a)
elo-1 36
  • 28 (a)
ManyToMany
elo-2 36
  • 33 (a)
ManyToMany
elo-3 36
  • 25 (a)
ManyToMany
elo-4 36
  • 33 (a)
ManyToMany
elo-5 36
  • 26 (a)
ManyToMany
elo-6 36
  • 31 (a)
ManyToMany
elo-7 36
  • 24 (a)
ManyToMany
elo-9 36
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELO1 36
  • 23 (a)
ManyToMany
FEN1 36
  • 21 (a)
ManyToMany
SUR4 36
  • 20 (a)
ManyToMany
ELO1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for ELOVL6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELOVL6 Gene

ENSEMBL:
Gene Tree for ELOVL6 (if available)
TreeFam:
Gene Tree for ELOVL6 (if available)

Paralogs for ELOVL6 Gene

Paralogs for ELOVL6 Gene

(1) SIMAP similar genes for ELOVL6 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for ELOVL6 Gene

genes like me logo Genes that share paralogs with ELOVL6: view

Variants for ELOVL6 Gene

Sequence variations from dbSNP and Humsavar for ELOVL6 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1003908 -- 110,083,510(-) AAGCT(A/C/G)TAGTC intron-variant
rs968600 -- 110,196,633(+) TGCCT(A/G)TGTGG intron-variant
rs1026883 -- 110,115,625(-) CCCCA(A/G)TCAAA intron-variant
rs1026884 -- 110,115,540(-) ccttg(A/G)attcc intron-variant
rs1482468 -- 110,159,394(+) AAGTA(A/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELOVL6 Gene

Variant ID Type Subtype PubMed ID
dgv98n17 CNV Loss 16327808
esv2665459 CNV Deletion 23128226
esv22044 CNV Loss 19812545
esv1003394 CNV Insertion 20482838
esv1138951 CNV Insertion 17803354
esv2670042 CNV Deletion 23128226
esv2677534 CNV Deletion 23128226
nsv290523 CNV Loss 16902084

Variation tolerance for ELOVL6 Gene

Residual Variation Intolerance Score: 40.1% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELOVL6 Gene

HapMap Linkage Disequilibrium report
ELOVL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL6 Gene

Disorders for ELOVL6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELOVL6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
common bile duct disease
  • common bile duct diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ELOVL6

Genetic Association Database (GAD)
ELOVL6
Human Genome Epidemiology (HuGE) Navigator
ELOVL6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELOVL6
genes like me logo Genes that share disorders with ELOVL6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELOVL6 Gene

Publications for ELOVL6 Gene

  1. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 48 67
  2. Identification of a mammalian long chain fatty acyl elongase regulated by sterol regulatory element-binding proteins. (PMID: 11567032) Moon Y.A. … Horton J.D. (J. Biol. Chem. 2001) 2 3
  3. Fatty acid elongation in non-alcoholic steatohepatitis and hepatocellular carcinoma. (PMID: 24714086) Kessler S.M. … Kiemer A.K. (Int J Mol Sci 2014) 3
  4. Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus. (PMID: 23903678) Liu Y. … Wang Y.G. (Braz. J. Med. Biol. Res. 2013) 3
  5. Deranged fatty acid composition causes pulmonary fibrosis in Elovl6-deficient mice. (PMID: 24113622) Sunaga H. … Kurabayashi M. (Nat Commun 2013) 3

Products for ELOVL6 Gene

Sources for ELOVL6 Gene

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