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Aliases for ELOVL4 Gene

Aliases for ELOVL4 Gene

  • ELOVL Fatty Acid Elongase 4 2 3 4
  • Elongation Of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3, Yeast)-Like 4 2 3
  • 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
  • ISQMR 3 6
  • STGD2 3 6
  • STGD3 3 6
  • ADMD 3 6
  • Elongation Of Very Long Chain Fatty Acids Protein 4 3
  • EC 2.3.1.199 4
  • CT118 3
  • SCA34 3

External Ids for ELOVL4 Gene

Previous HGNC Symbols for ELOVL4 Gene

  • STGD2
  • STGD3

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 stargardt disease 3 and ichthyosis, spastic quadriplegia, and mental retardation. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transferase activity and G-protein coupled photoreceptor activity. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot for ELOVL4 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 specifically elongates C24:0 and C26:0 acyl-CoAs. 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. May play a critical role in early brain and skin development.

Gene Wiki entry for ELOVL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELOVL4 Gene

Genomics for ELOVL4 Gene

Regulatory Elements for ELOVL4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ELOVL4 Gene

Start:
79,914,812 bp from pter
End:
79,947,598 bp from pter
Size:
32,787 bases
Orientation:
Minus strand

Genomic View for ELOVL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ELOVL4 Gene at MOPED

Post-translational modifications for ELOVL4 Gene

  • Glycosylation at Asn20
  • Modification sites at PhosphoSitePlus

Other Protein References for ELOVL4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ELOVL4 Gene

Domains for ELOVL4 Gene

Protein Domains for ELOVL4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ELOVL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9GZR5

UniProtKB/Swiss-Prot:

ELOV4_HUMAN :
  • Q9GZR5
Domain:
  • The di-lysine motif may confer endoplasmic reticulum localization.
Family:
  • Belongs to the ELO family.
genes like me logo Genes that share domains with ELOVL4: view

No data available for Gene Families for ELOVL4 Gene

Function for ELOVL4 Gene

Molecular function for ELOVL4 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 specifically elongates C24:0 and C26:0 acyl-CoAs. 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. May play a critical role in early brain and skin development.

Enzyme Numbers (IUBMB) 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:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ELOVL4: view
genes like me logo Genes that share phenotypes with ELOVL4: view

Animal Models for ELOVL4 Gene

MGI Knock Outs for ELOVL4:

Animal Model Products

CRISPR Products

miRNA for ELOVL4 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ELOVL4

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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
Jensen Localization Image for ELOVL4 Gene COMPARTMENTS Subcellular localization image for ELOVL4 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ELOVL4 Gene

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

Pathways 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.

Interacting Proteins for ELOVL4 Gene

Gene Ontology (GO) - Biological Process for ELOVL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process NAS 11138005
GO:0009584 detection of visible light NAS 11138005
GO:0019367 fatty acid elongation, saturated fatty acid IDA 20937905
GO:0019432 triglyceride biosynthetic process TAS --
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS --
genes like me logo Genes that share ontologies with ELOVL4: view

Compounds for ELOVL4 Gene

(1) Drugbank Compounds for ELOVL4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-Linolenic Acid
  • (9Z,12Z,15Z)-Octadecatrienoic acid
463-40-1 target

(1) Novoseek inferred chemical compound relationships for ELOVL4 Gene

Compound -log(P) Hits PubMed IDs
fatty acid 53.9 10
genes like me logo Genes that share compounds with ELOVL4: view

Transcripts for ELOVL4 Gene

mRNA/cDNA for ELOVL4 Gene

(52) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ELOVL4 Gene

ELOVL fatty acid elongase 4:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ELOVL4

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
ELOVL4

Expression for ELOVL4 Gene

mRNA expression in normal human tissues 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) (6.0) and Skin - Not Sun Exposed (Suprapubic) (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ELOVL4 Gene

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.
genes like me logo Genes that share expressions with ELOVL4: view

In Situ Assay Products

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 35
  • 99.79 (n)
  • 99.68 (a)
ELOVL4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELOVL4 35
  • 90.23 (n)
  • 91.72 (a)
ELOVL4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELOVL4 35
  • 92.68 (n)
  • 96.18 (a)
ELOVL4 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elovl4 35
  • 84.29 (n)
  • 92.31 (a)
Elovl4 16
Elovl4 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELOVL4 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL4 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elovl4 35
  • 86.31 (n)
  • 94.27 (a)
chicken
(Gallus gallus)
Aves ELOVL4 35
  • 75.83 (n)
  • 76.68 (a)
ELOVL4 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELOVL4 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl4 35
  • 72.15 (n)
  • 72.04 (a)
Str.12809 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ELOVL4 (3 of 3) 36
  • 66 (a)
OneToMany
elovl4a 36
  • 66 (a)
OneToMany
elovl4b 36
  • 68 (a)
OneToMany
LOC100332451 35
  • 65.81 (n)
  • 69.49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008780 35
  • 50.26 (n)
  • 44.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5278 35
  • 49.69 (n)
  • 43.22 (a)
Elo68alpha 36
  • 39 (a)
ManyToMany
Elo68beta 36
  • 43 (a)
ManyToMany
CG5326 37
  • 41 (a)
CG6921 37
  • 38 (a)
CG5278 37
  • 44 (a)
CG6660 37
  • 35 (a)
CG2781 37
  • 42 (a)
CG8534 37
  • 35 (a)
CG17821 37
  • 35 (a)
CG16905 37
  • 34 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11535 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10602 36
  • 51 (a)
OneToOne
Species with no ortholog for ELOVL4:
  • 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)
  • 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)

Paralogs for ELOVL4 Gene

Paralogs for ELOVL4 Gene

Selected SIMAP similar genes for ELOVL4 Gene using alignment to 1 proteins:

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

Variants for ELOVL4 Gene

Sequence variations from dbSNP and Humsavar for ELOVL4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs2991 -- 79,914,939(+) GCAAC(A/C)AAACA utr-variant-3-prime
rs151666 -- 79,933,328(+) agggc(G/T)taagc intron-variant
rs151667 -- 79,933,833(+) gctgc(A/G)ctggc intron-variant
rs151668 -- 79,939,390(+) tggaa(C/G)ttttc intron-variant
rs151669 -- 79,939,712(+) gttgc(C/T)catgt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525646 CNV Loss 19592680
esv2480577 CNV Deletion 19546169

Relevant External Links for ELOVL4 Gene

HapMap Linkage Disequilibrium report
ELOVL4
Human Gene Mutation Database (HGMD)
ELOVL4
Locus Specific Mutation Databases (LSDB)
ELOVL4

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

Disorders for ELOVL4 Gene

(2) OMIM Diseases for ELOVL4 Gene (605512)

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. 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.

(1) University of Copenhagen DISEASES for ELOVL4 Gene

(4) Novoseek inferred disease relationships for ELOVL4 Gene

Disease -log(P) Hits PubMed IDs
stgd3 99 12
stargardts disease 74.7 2
retinal degeneration 66.2 2
retinitis pigmentosa 46.8 3

Relevant External Links for ELOVL4

Genetic Association Database (GAD)
ELOVL4
Human Genome Epidemiology (HuGE) Navigator
ELOVL4
genes like me logo Genes that share disorders with ELOVL4: view

Publications for ELOVL4 Gene

  1. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. (PMID: 11581213) Edwards A.O. … Ritter R. III (Invest. Ophthalmol. Vis. Sci. 2001) 3 4 23
  2. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. (PMID: 12592226) Rivolta C. … Dryja T.P. (Mol. Vis. 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. (Nat. Genet. 2001) 2 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ELOVL4 Gene

Sources for ELOVL4 Gene

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