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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
  • 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
  • Very-Long-Chain 3-Oxoacyl-CoA Synthase 4 3
  • Spinocerebellar Ataxia 34 2
  • EC 2.3.1.199 4
  • CT118 3
  • 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 stargardt disease 3. 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 G-protein coupled photoreceptor activity. An important paralog of this gene is ELOVL6.

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

Promoters for ELOVL4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELOVL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELOVL4 Gene

Chromosome:
6
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

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

Proteomics data for ELOVL4 Gene at MOPED

Post-translational modifications for ELOVL4 Gene

  • Glycosylation at Asn 20
  • Modification sites at PhosphoSitePlus

Other Protein References for ELOVL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ELOVL4 Gene

Domains & Families 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 :
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
  • Belongs to the ELO family. ELOVL4 subfamily.
Domain:
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
Family:
  • Belongs to the ELO family. ELOVL4 subfamily.
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

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:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
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
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components 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.

Interacting Proteins for ELOVL4 Gene

Gene Ontology (GO) - Biological Process for ELOVL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019432 triglyceride biosynthetic process TAS --
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS --
GO:0042761 very long-chain fatty acid biosynthetic process ISS --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-linolenic acid Approved Nutra Full agonist, Agonist, Target 0
malonyl-coa Experimental Pharma 0
Omega 3 Fatty Acid Nutra 912
Coenzyme A Nutra 0

(2) Additional Compounds for ELOVL4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
genes like me logo Genes that share compounds with ELOVL4: view

Transcripts for ELOVL4 Gene

mRNA/cDNA for ELOVL4 Gene

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

Unigene Clusters for ELOVL4 Gene

ELOVL fatty acid elongase 4:
Representative Sequences:

Inhibitory RNA 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) (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, 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 expression patterns with ELOVL4: view

Protein tissue co-expression partners for ELOVL4 Gene

- Elite partner

Primer Products

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 36
  • 100 (a)
OneToOne
ELOVL4 35
  • 99.79 (n)
  • 99.68 (a)
cow
(Bos Taurus)
Mammalia ELOVL4 36
  • 92 (a)
OneToOne
ELOVL4 35
  • 90.23 (n)
  • 91.72 (a)
dog
(Canis familiaris)
Mammalia ELOVL4 35
  • 92.68 (n)
  • 96.18 (a)
ELOVL4 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elovl4 16
Elovl4 36
  • 92 (a)
OneToOne
Elovl4 35
  • 84.29 (n)
  • 92.31 (a)
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 ELOVL4 (3 of 3) 36
  • 66 (a)
OneToMany
elovl4a 36
  • 66 (a)
OneToMany
elovl4b 36
  • 68 (a)
OneToMany
-- 35
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
CG16905 37
  • 34 (a)
CG17821 37
  • 35 (a)
CG2781 37
  • 42 (a)
CG5278 37
  • 44 (a)
CG5326 37
  • 41 (a)
CG6660 37
  • 35 (a)
CG6921 37
  • 38 (a)
CG8534 37
  • 35 (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

(4) 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
rs3812153 - 79,916,658(-) AACTC(A/G)TGATA reference, missense
rs148594713 - 79,916,753(+) TCCGA(A/G)TGTAG reference, missense
VAR_072565 Spinocerebellar ataxia 34 (SCA34)
rs163983 -- 79,925,878(+) ACTCC(A/G)ATAAT intron-variant
rs184672 -- 79,927,354(+) TATGT(C/T)GTATT 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

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)

Relevant External Links for ELOVL4 Gene

HapMap Linkage Disequilibrium report
ELOVL4
Human Gene Mutation Database (HGMD)
ELOVL4

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

Disorders for ELOVL4 Gene

MalaCards: The human disease database

(25) MalaCards diseases for ELOVL4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 34
  • spinocerebellar ataxia type 34
stargardt disease 3
  • autosomal dominant macular dystrophy
ichthyosis, spastic quadriplegia, and mental retardation
  • isqmr
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
  • congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
stargardt disease
  • stargardt disease 1
- 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.

Relevant External Links for ELOVL4

Genetic Association Database (GAD)
ELOVL4
Human Genome Epidemiology (HuGE) Navigator
ELOVL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELOVL4
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 Neurol. 2014) 2 3 4 67
  2. Genetics and molecular pathology of Stargardt-like macular degeneration. (PMID: 20096366) Vasireddy V. … Ayyagari R. (Prog Retin Eye Res 2010) 3 23
  3. Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. (PMID: 17356513) McMahon A. … Kedzierski W. (Mol. Vis. 2007) 3 23
  4. Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation. (PMID: 16476896) Hubbard A.F. … Bernstein P.S. (Arch. Ophthalmol. 2006) 3 23
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for ELOVL4 Gene

Sources for ELOVL4 Gene

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