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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
  • Elongation Of Very Long Chain Fatty Acids Protein 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. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (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 ELOVL3.

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 in 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.

Additional gene information for ELOVL6 Gene

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

Genomics for ELOVL6 Gene

GeneHancer (GH) Regulatory Elements for ELOVL6 Gene

Promoters and enhancers for ELOVL6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I110192 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.9 +2.8 2835 7 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 RCOR2 ELOVL6 SEC24B GAR1 SETP20 CDC42P4 CASP6 ENSG00000250511 ENSG00000248200
GH04I110475 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 9.5 -277.0 -277049 1.6 TAF1 FEZF1 RAD21 YY1 ZNF335 ZFHX2 GLIS2 SCRT2 PRDM10 EGR2 ENPEP ENSG00000250511 ELOVL6 GC04M110483 GC04M110434 ENSG00000199894
GH04I110118 Enhancer 0.8 Ensembl ENCODE 16.3 +79.2 79224 2.4 SMARCE1 IRF2 DPF2 ELF1 RFX5 GABPA ZNF217 CTBP1 GATA3 CREB1 ELOVL6 RN7SL275P ENSG00000248200
GH04I110162 Enhancer 1 Ensembl ENCODE 11.8 +34.4 34362 4.1 HDAC1 PKNOX1 ZNF766 RCOR1 FOS CEBPB ELF1 ZEB2 SP1 SMARCA4 ELOVL6 ENSG00000250511 ENSG00000248200
GH04I110058 Enhancer 0.9 Ensembl ENCODE 11.2 +139.0 139034 2.6 ZMYM3 BATF ZNF316 ATF7 ETV6 MAFK IKZF2 RUNX3 SMARCA5 CBFB ELOVL6 RNU6-35P EGF LRIT3 GC04M110046 RN7SL275P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELOVL6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELOVL6 gene promoter:

Genomic Locations for ELOVL6 Gene

Genomic Locations for ELOVL6 Gene
chr4:110,045,846-110,199,199
(GRCh38/hg38)
Size:
153,354 bases
Orientation:
Minus strand
chr4:110,967,002-111,120,355
(GRCh37/hg19)

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

Post-translational modifications for ELOVL6 Gene

No data available for DME Specific Peptides for ELOVL6 Gene

Domains & Families for ELOVL6 Gene

Gene Families for ELOVL6 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ELOVL6 Gene

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

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 in 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

Phenotypes From GWAS Catalog 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
GO:0009922 fatty acid elongase activity TAS,IEA --
GO:0016740 transferase activity IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
GO:0102336 3-oxo-arachidoyl-CoA synthase activity IEA --
genes like me logo Genes that share ontologies with ELOVL6: view
genes like me logo Genes that share phenotypes with ELOVL6: view

Animal Models for ELOVL6 Gene

MGI Knock Outs for ELOVL6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELOVL6 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 3
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 20937905
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with ELOVL6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELOVL6 Gene

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.

Gene Ontology (GO) - Biological Process for ELOVL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0019367 fatty acid elongation, saturated fatty acid IDA,IEA 20937905
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

(3) Drugs for ELOVL6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Malonyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(2) 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
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ELOVL6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELOVL6 Gene:

ELOVL6

SOURCE GeneReport for Unigene cluster for ELOVL6 Gene:

Hs.412939

mRNA Expression by UniProt/SwissProt for ELOVL6 Gene:

Q9H5J4-ELOV6_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ELOVL6 Gene

  • Liver(2.8)
  • Muscle(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with ELOVL6: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ELOVL6 Gene

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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia ELOVL6 33 34
  • 95.97 (n)
cow
(Bos Taurus)
Mammalia ELOVL6 33
  • 94.3 (n)
MGC139109 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elovl6 33
  • 93.33 (n)
mouse
(Mus musculus)
Mammalia Elovl6 33 16 34
  • 93.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL6 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELOVL6 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELOVL6 33 34
  • 88.55 (n)
lizard
(Anolis carolinensis)
Reptilia ELOVL6 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl6 33
  • 81.38 (n)
Str.11921 33
zebrafish
(Danio rerio)
Actinopterygii elovl6 33 34
  • 80.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006520 33
  • 57.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta Baldspot 33 34
  • 56.29 (n)
worm
(Caenorhabditis elegans)
Secernentea elo-3 33 34
  • 51.12 (n)
elo-2 34
  • 33 (a)
ManyToMany
elo-4 34
  • 33 (a)
ManyToMany
elo-9 34
  • 32 (a)
ManyToMany
elo-6 34
  • 31 (a)
ManyToMany
elo-1 34
  • 28 (a)
ManyToMany
elo-5 34
  • 26 (a)
ManyToMany
elo-7 34
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELO1 34 36
  • 23 (a)
ManyToMany
FEN1 34
  • 21 (a)
ManyToMany
SUR4 34
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for ELOVL6 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000023289 -- 110,176,238(-) C/T intron_variant
rs1000049036 -- 110,144,294(-) T/C intron_variant
rs1000053861 -- 110,144,003(-) G/A intron_variant
rs10001138 -- 110,056,974(-) C/A intron_variant
rs1000121601 -- 110,053,280(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv98n17 CNV loss 16327808
esv1003394 CNV insertion 20482838
esv1138951 CNV insertion 17803354
esv22044 CNV loss 19812545
esv2665459 CNV deletion 23128226
esv2670042 CNV deletion 23128226
esv2677534 CNV deletion 23128226
esv2760833 CNV loss 21179565
esv2762456 CNV loss 21179565
esv3569655 CNV loss 25503493
esv3569656 CNV loss 25503493
esv3569657 CNV loss 25503493
esv3601754 CNV loss 21293372
esv3601755 CNV loss 21293372
esv3601756 CNV loss 21293372
esv3601758 CNV loss 21293372
esv3894004 CNV loss 25118596
nsv1128087 CNV deletion 24896259
nsv290523 CNV deletion 16902084
nsv595145 CNV loss 21841781

Variation tolerance for ELOVL6 Gene

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

Additional Variant Information for ELOVL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELOVL6

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

Disorders for ELOVL6 Gene

Additional Disease Information for ELOVL6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ELOVL6 Gene.

No data available for MalaCards , 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 BP (Human molecular genetics 2010) 3 44 58
  2. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58
  3. Family-based genome-wide association scan of attention-deficit/hyperactivity disorder. (PMID: 20732626) Mick E … Faraone SV (Journal of the American Academy of Child and Adolescent Psychiatry 2010) 3 44 58
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58

Products for ELOVL6 Gene

Sources for ELOVL6 Gene

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