This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like mac... See more...

Aliases for ELOVL4 Gene

Aliases for ELOVL4 Gene

  • ELOVL Fatty Acid Elongase 4 2 3 4 5
  • Elongation Of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3, Yeast)-Like 4 2 3
  • Elongation Of Very Long Chain Fatty Acids Protein 4 3 4
  • Very Long Chain 3-Ketoacyl-CoA Synthase 4 3 4
  • Very Long Chain 3-Oxoacyl-CoA Synthase 4 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL4 3 4
  • Cancer/Testis Antigen 118 2 3
  • ELOVL FA Elongase 4 3 4
  • CT118 2 3
  • Spinocerebellar Ataxia 34 2
  • EC 2.3.1.199 4
  • ELOVL4 5
  • ISQMR 3
  • SCA34 3
  • STGD2 3
  • STGD3 3
  • ADMD 3

External Ids for ELOVL4 Gene

Previous HGNC Symbols for ELOVL4 Gene

  • STGD2
  • STGD3
  • SCA34

Previous GeneCards Identifiers for ELOVL4 Gene

  • GC06M080567
  • GC06M080620
  • GC06M080681
  • GC06M077847
  • GC06M080624

Summaries for ELOVL4 Gene

Entrez Gene Summary for ELOVL4 Gene

  • This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

GeneCards Summary for ELOVL4 Gene

ELOVL4 (ELOVL Fatty Acid Elongase 4) is a Protein Coding gene. Diseases associated with ELOVL4 include Spinocerebellar Ataxia 34 and Ichthyosis, Spastic Quadriplegia, And Mental Retardation. Among its related pathways are Metabolism and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include transferase activity and G protein-coupled photoreceptor activity. An important paralog of this gene is ELOVL2.

UniProtKB/Swiss-Prot Summary for ELOVL4 Gene

  • Catalyzes the first and rate-limiting reaction of the four reactions 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 catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.

Gene Wiki entry for ELOVL4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELOVL4 Gene

Genomics for ELOVL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELOVL4 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
GH06J079946 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 607.4 +0.7 653 3 ZNF221 CTCF PRDM10 ZNF692 PRDM1 ZIC2 POLR2A PATZ1 ZNF501 EZH2 ELOVL4 ENSG00000287816 LCA5 RF01045-131 SH3BGRL2
GH06J079949 Enhancer 0.9 ENCODE dbSUPER 600.7 -1.8 -1796 0.2 CTCF TEAD4 REST RAD21 TRIM22 YY1 ZNF341 ZNF561 SCRT2 ZXDB ELOVL4 ENSG00000287816 GAPDHP63 TTK
GH06J080002 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 -57.0 -57027 3.6 SP1 CREB1 ATF7 TEAD4 PRDM10 ZNF629 RFX1 BACH1 FOS TARDBP TTK lnc-ELOVL4-4 ELOVL4 ENSG00000272129 BCKDHB ENSG00000233967 piR-33605-397
GH06J079992 Enhancer 0.6 Ensembl ENCODE dbSUPER 12.7 -45.8 -45848 2.4 SPI1 ELOVL4 ENSG00000272129 BCKDHB TTK RPL35AP18 lnc-TTK-2
GH06J079872 Enhancer 0.6 ENCODE 13.1 +74.4 74395 1.2 CEBPG POLR2A CEBPB CTBP1 PKNOX1 EP300 FOS TCF7L2 YY1 MNT ENSG00000233835 ELOVL4 LINC01621 SH3BGRL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELOVL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELOVL4

Top Transcription factor binding sites by QIAGEN in the ELOVL4 gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • ATF-2
  • c-Myb
  • MAZR
  • MZF-1
  • Pax-5
  • ZIC2

Genomic Locations for ELOVL4 Gene

Genomic Locations for ELOVL4 Gene
chr6:79,914,814-79,947,553
(GRCh38/hg38)
Size:
32,740 bases
Orientation:
Minus strand
chr6:80,624,529-80,657,315
(GRCh37/hg19)
Size:
32,787 bases
Orientation:
Minus strand

Genomic View for ELOVL4 Gene

Genes around ELOVL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELOVL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELOVL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL4 Gene

Proteins for ELOVL4 Gene

  • Protein details for ELOVL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZR5-ELOV4_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 4
    Protein Accession:
    Q9GZR5
    Secondary Accessions:
    • B2R6B5
    • Q5TCS2
    • Q86YJ1
    • Q9H139

    Protein attributes for ELOVL4 Gene

    Size:
    314 amino acids
    Molecular mass:
    36829 Da
    Quaternary structure:
    • Oligomer.

neXtProt entry for ELOVL4 Gene

Post-translational modifications for ELOVL4 Gene

Other Protein References for ELOVL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ELOVL4 Gene

Domains & Families for ELOVL4 Gene

Gene Families for ELOVL4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for ELOVL4 Gene

InterPro:
Blocks:
  • GNS1/SUR4 membrane protein
ProtoNet:

Suggested Antigen Peptide Sequences for ELOVL4 Gene

GenScript: Design optimal peptide antigens:
  • 3-keto acyl-CoA synthase ELOVL4 (ELOV4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZR5

UniProtKB/Swiss-Prot:

ELOV4_HUMAN :
  • The C-terminal di-lysine motif confers endoplasmic reticulum localization.
  • Belongs to the ELO family. ELOVL4 subfamily.
Domain:
  • The C-terminal di-lysine motif confers endoplasmic reticulum localization.
Family:
  • Belongs to the ELO family. ELOVL4 subfamily.
genes like me logo Genes that share domains with ELOVL4: view

Function for ELOVL4 Gene

Molecular function for ELOVL4 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the first and rate-limiting reaction of the four reactions 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 catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence={ECO:0000255|HAMAP-Rule:MF_03204, ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-CoA + tetracosanoyl-CoA = 3-oxohexacosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36515, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:65052, ChEBI:CHEBI:73980; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexacosanoyl-CoA + malonyl-CoA = 3-oxooctacosanyol-CoA + CO2 + CoA; Xref=Rhea:RHEA:36519, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:64868, ChEBI:CHEBI:73976; Evidence={ECO:0000269|PubMed:20937905};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-CoA + octacosanoyl-CoA = 3-oxo-triacontanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36807, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74141, ChEBI:CHEBI:74228; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-CoA + triacontanoyl-CoA = 3-oxo-dotriacontanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:43852, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:76386, ChEBI:CHEBI:83795; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36871, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74260, ChEBI:CHEBI:74261; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36943, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74298, ChEBI:CHEBI:74304; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + H(+) + malonyl-CoA = (9Z,12Z,15Z,18Z)-3-oxotetracosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36479, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:73856, ChEBI:CHEBI:73857; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36819, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74229, ChEBI:CHEBI:74230; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(13Z,16Z,19Z,22Z,25Z)-octacosapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36843, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74233, ChEBI:CHEBI:74246; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(15Z,18Z,21Z,24Z,27Z)-triacontapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36851, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74247, ChEBI:CHEBI:74254; Evidence={ECO:0000305|PubMed:23479632};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(19Z,22Z,25Z,28Z,31Z)-tetratriacontapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36859, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74249, ChEBI:CHEBI:74259; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(21Z,24Z,27Z,30Z,33Z)-hexatriacontapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(23Z,26Z,29Z,32Z,35Z)-octatriacontapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36875, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74262, ChEBI:CHEBI:74263; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11Z,14Z,17Z,20Z)-hexacosatetraenoyl-CoA + H(+) + malonyl-CoA = (13Z,16Z,19Z,22Z)-3-oxooctacosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36907, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74282, ChEBI:CHEBI:74283; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(13Z,16Z,19Z,22Z)-octacosatetraenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36911, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74285, ChEBI:CHEBI:74286; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(15Z,18Z,21Z,24Z)-triacontatetraenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36915, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74287, ChEBI:CHEBI:74288; Evidence={ECO:0000305|PubMed:23479632};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(17Z,20Z,23Z,26Z)-dotriacontatetraenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36919, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74289, ChEBI:CHEBI:74290; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(19Z,22Z,25Z,28Z)-tetratriacontatetraenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36923, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74291, ChEBI:CHEBI:74292; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(21Z,24Z,27Z,30Z)-hexatriacontatetraenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(23Z,26Z,29Z,32Z)-octatriacontatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36927, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74293, ChEBI:CHEBI:74294; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36947, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74086, ChEBI:CHEBI:74305; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8Z,11Z,14Z,17Z,20Z,23Z)-hexacosahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36963, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74306, ChEBI:CHEBI:74311; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(10Z,13Z,16Z,19Z,22Z,25Z)-octacosahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36967, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74312, ChEBI:CHEBI:74313; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(12Z,15Z,18Z,21Z,24Z,27Z)-triacontahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36979, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74315, ChEBI:CHEBI:74316; Evidence={ECO:0000305|PubMed:23479632};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(14Z,17Z,20Z,23Z,26Z,29Z)-dotriacontahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36983, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74317, ChEBI:CHEBI:74318; Evidence={ECO:0000305|PubMed:23479632};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(16Z,19Z,22Z,25Z,28Z,31Z)-tetratriacontahexaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(18Z,21Z,24Z,27Z,30Z,33Z)-hexatriacontahexaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36995, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74319, ChEBI:CHEBI:74320; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z,15Z,18Z,21Z)-tetracosapentaenoyl-CoA + H(+) + malonyl-CoA = 3-oxo-(11Z,14Z,17Z,20Z,23Z)-hexacosapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:37243, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74083, ChEBI:CHEBI:74663; Evidence={ECO:0000250|UniProtKB:Q9EQC4};.

Enzyme Numbers (IUBMB) for ELOVL4 Gene

Phenotypes From GWAS Catalog for ELOVL4 Gene

Gene Ontology (GO) - Molecular Function for ELOVL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20937905
GO:0008020 G protein-coupled photoreceptor activity NAS 11138005
GO:0009922 fatty acid elongase activity IBA,ISS --
GO:0016740 transferase activity IEA --
GO:0102336 3-oxo-arachidoyl-CoA synthase activity IEA --
genes like me logo Genes that share ontologies with ELOVL4: view
genes like me logo Genes that share phenotypes with ELOVL4: view

Human Phenotype Ontology for ELOVL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ELOVL4 Gene

MGI Knock Outs for ELOVL4:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL4

No data available for Transcription Factor Targets and HOMER Transcription for ELOVL4 Gene

Localization for ELOVL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL4 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 ELOVL4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytoskeleton 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ELOVL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 20937905
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 16036915
genes like me logo Genes that share ontologies with ELOVL4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ELOVL4 Gene

Pathways & Interactions for ELOVL4 Gene

genes like me logo Genes that share pathways with ELOVL4: view

UniProtKB/Swiss-Prot Q9GZR5-ELOV4_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for ELOVL4 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 NAS 11138005
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0009584 detection of visible light IEA --
genes like me logo Genes that share ontologies with ELOVL4: view

No data available for SIGNOR curated interactions for ELOVL4 Gene

Drugs & Compounds for ELOVL4 Gene

(7) Drugs for ELOVL4 Gene - From: DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Omega-3-carboxylic acids Approved, Investigational Pharma Target, potentiator 0
Vayarin Approved, Investigational Pharma Enzyme, substrate 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
alpha-linolenic acid Approved, Investigational Nutra 0
Malonyl-CoA Experimental Pharma 0

(1) Additional Compounds for ELOVL4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ELOVL4: view

Transcripts for ELOVL4 Gene

mRNA/cDNA for ELOVL4 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELOVL4

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1: -
SP2: - -
SP3:

Relevant External Links for ELOVL4 Gene

GeneLoc Exon Structure for
ELOVL4

Expression for ELOVL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELOVL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELOVL4 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.0) and Skin - Not Sun Exposed (Suprapubic) (x5.1).

Protein differential expression in normal tissues from HIPED for ELOVL4 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELOVL4 Gene



Protein tissue co-expression partners for ELOVL4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELOVL4

SOURCE GeneReport for Unigene cluster for ELOVL4 Gene:

Hs.101915

mRNA Expression by UniProt/SwissProt for ELOVL4 Gene:

Q9GZR5-ELOV4_HUMAN
Tissue specificity: Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.

Evidence on tissue expression from TISSUES for ELOVL4 Gene

  • Nervous system(4.8)
  • Eye(4.6)
  • Skin(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELOVL4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Abdomen:
  • abdominal wall
  • intestine
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with ELOVL4: view

Orthologs for ELOVL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELOVL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ELOVL4 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELOVL4 30 31
  • 92.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELOVL4 30 31
  • 90.23 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL4 31
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elovl4 30
  • 86.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia ELOVL4 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Elovl4 30 17 31
  • 84.29 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ELOVL4 30 31
  • 75.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELOVL4 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elovl4 30
  • 72.15 (n)
Str.12809 30
Zebrafish
(Danio rerio)
Actinopterygii elovl4b 31
  • 68 (a)
OneToMany
elovl4a 31
  • 66 (a)
OneToMany
ELOVL4 (3 of 3) 31
  • 66 (a)
OneToMany
LOC100332451 30
  • 65.81 (n)
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008780 30
  • 50.26 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5278 30 32
  • 49.69 (n)
Elo68beta 31
  • 43 (a)
ManyToMany
CG2781 32
  • 42 (a)
CG5326 32
  • 41 (a)
Elo68alpha 31
  • 39 (a)
ManyToMany
CG6921 32
  • 38 (a)
CG17821 32
  • 35 (a)
CG6660 32
  • 35 (a)
CG8534 32
  • 35 (a)
CG16905 32
  • 34 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10602 31
  • 51 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11535 30
Species where no ortholog for ELOVL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ELOVL4 Gene

ENSEMBL:
Gene Tree for ELOVL4 (if available)
TreeFam:
Gene Tree for ELOVL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELOVL4: view image

Paralogs for ELOVL4 Gene

Paralogs for ELOVL4 Gene

(4) SIMAP similar genes for ELOVL4 Gene using alignment to 1 proteins:

  • ELOV4_HUMAN
genes like me logo Genes that share paralogs with ELOVL4: view

Variants for ELOVL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELOVL4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
674088 Likely Benign: not provided 79,926,649(-) C/T INTRON_VARIANT
675835 Benign: not provided 79,924,896(-) G/A INTRON_VARIANT
676390 Likely Benign: not provided 79,921,565(-) C/T INTRON_VARIANT
680041 Benign: not provided 79,926,005(-) C/T INTRON_VARIANT
680042 Benign: not provided 79,919,265(-) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ELOVL4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ELOVL4 Gene

Variant ID Type Subtype PubMed ID
esv2480577 CNV deletion 19546169
nsv476100 CNV novel sequence insertion 20440878
nsv525646 CNV loss 19592680

Variation tolerance for ELOVL4 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.15; 75.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELOVL4 Gene

Human Gene Mutation Database (HGMD)
ELOVL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELOVL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL4 Gene

Disorders for ELOVL4 Gene

MalaCards: The human disease database

(42) MalaCards diseases for ELOVL4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ELOV4_HUMAN
  • Stargardt disease 3 (STGD3) [MIM:600110]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269 PubMed:11138005, ECO:0000269 PubMed:11581213}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. {ECO:0000269 PubMed:22100072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia 34 (SCA34) [MIM:133190]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis. {ECO:0000269 PubMed:24566826}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ELOVL4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ELOVL4: view

No data available for Genatlas for ELOVL4 Gene

Publications for ELOVL4 Gene

  1. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. (PMID: 24566826) Cadieux-Dion M … Cossette P (JAMA neurology 2014) 2 3 4
  2. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. (PMID: 12592226) Rivolta C … Dryja TP (Molecular vision 2003) 3 4 23
  3. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. (PMID: 11138005) Zhang K … Petrukhin K (Nature genetics 2001) 2 3 4
  4. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. (PMID: 11581213) Edwards AO … Ritter R (Investigative ophthalmology & visual science 2001) 3 4 23
  5. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. (PMID: 22100072) Aldahmesh MA … Alkuraya FS (American journal of human genetics 2011) 3 4

Products for ELOVL4 Gene

Sources for ELOVL4 Gene