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Aliases for ELOVL5 Gene

Aliases for ELOVL5 Gene

  • ELOVL Fatty Acid Elongase 5 2 3 4
  • ELOVL Family Member 5, Elongation Of Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3-Like, Yeast) 2 3
  • Very-Long-Chain 3-Oxoacyl-CoA Synthase 5 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL5 3 4
  • Spinocerebellar Ataxia 38 2 3
  • Fatty Acid Elongase 1 3 4
  • ELOVL FA Elongase 5 3 4
  • HELO1 3 4
  • Homolog Of Yeast Long Chain Polyunsaturated Fatty Acid Elongation Enzyme 2 3
  • EC 2.3.1.199 4
  • DJ483K16.1 3
  • ELOVL2 4
  • SCA38 3

External Ids for ELOVL5 Gene

Previous HGNC Symbols for ELOVL5 Gene

  • SCA38

Previous GeneCards Identifiers for ELOVL5 Gene

  • GC06M053074
  • GC06M053179
  • GC06M052964
  • GC06M053132

Summaries for ELOVL5 Gene

Entrez Gene Summary for ELOVL5 Gene

  • This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

GeneCards Summary for ELOVL5 Gene

ELOVL5 (ELOVL Fatty Acid Elongase 5) is a Protein Coding gene. Diseases associated with ELOVL5 include spinocerebellar ataxia 38 and low tension glaucoma. 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 fatty acid elongase activity. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot for ELOVL5 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 acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate to the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Gene Wiki entry for ELOVL5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELOVL5 Gene

Genomics for ELOVL5 Gene

Regulatory Elements for ELOVL5 Gene

Epigenetics Products

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

Genomic Location for ELOVL5 Gene

Chromosome:
6
Start:
53,267,398 bp from pter
End:
53,349,179 bp from pter
Size:
81,782 bases
Orientation:
Minus strand

Genomic View for ELOVL5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ELOVL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL5 Gene

Proteins for ELOVL5 Gene

  • Protein details for ELOVL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYP7-ELOV5_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 5
    Protein Accession:
    Q9NYP7
    Secondary Accessions:
    • B4DZJ2
    • F6SH78
    • Q59EL3
    • Q5TGH5
    • Q6NXE7
    • Q7L2S5
    • Q8NCG4
    • Q9UI22

    Protein attributes for ELOVL5 Gene

    Size:
    299 amino acids
    Molecular mass:
    35293 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF16688.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11178.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ELOVL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELOVL5 Gene

Proteomics data for ELOVL5 Gene at MOPED

Post-translational modifications for ELOVL5 Gene

  • Ubiquitination at Lys 13 and Lys 267
  • Modification sites at PhosphoSitePlus

Other Protein References for ELOVL5 Gene

Antibody Products

No data available for DME Specific Peptides for ELOVL5 Gene

Domains & Families for ELOVL5 Gene

Protein Domains for ELOVL5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ELOVL5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYP7

UniProtKB/Swiss-Prot:

ELOV5_HUMAN :
  • Belongs to the ELO family.
Family:
  • Belongs to the ELO family.
genes like me logo Genes that share domains with ELOVL5: view

No data available for Gene Families for ELOVL5 Gene

Function for ELOVL5 Gene

Molecular function for ELOVL5 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 acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate to the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Enzyme Numbers (IUBMB) for ELOVL5 Gene

Gene Ontology (GO) - Molecular Function for ELOVL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20937905
GO:0009922 fatty acid elongase activity IDA 20427700
GO:0016740 transferase activity --
genes like me logo Genes that share ontologies with ELOVL5: view

Phenotypes for ELOVL5 Gene

MGI mutant phenotypes for ELOVL5:
inferred from 1 alleles
GenomeRNAi human phenotypes for ELOVL5:
genes like me logo Genes that share phenotypes with ELOVL5: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ELOVL5

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ELOVL5 Gene

Localization for ELOVL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL5 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=In Purkinje cells, the protein localizes to the soma and proximal portion of the dendritic tree. {ECO:0000269 PubMed:25065913}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELOVL5 Gene COMPARTMENTS Subcellular localization image for ELOVL5 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for ELOVL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 20937905
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with ELOVL5: view

Pathways & Interactions for ELOVL5 Gene

genes like me logo Genes that share pathways with ELOVL5: view

UniProtKB/Swiss-Prot Q9NYP7-ELOV5_HUMAN

  • Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis.

Interacting Proteins for ELOVL5 Gene

Gene Ontology (GO) - Biological Process for ELOVL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process --
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0019432 triglyceride biosynthetic process TAS --
GO:0033559 unsaturated fatty acid metabolic process TAS --
GO:0034625 fatty acid elongation, monounsaturated fatty acid IDA 20427700
genes like me logo Genes that share ontologies with ELOVL5: view

No data available for SIGNOR curated interactions for ELOVL5 Gene

Drugs & Compounds for ELOVL5 Gene

(2) Drugs for ELOVL5 Gene - From: HMDB

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

(1) Additional Compounds for ELOVL5 Gene - From: HMDB

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 ELOVL5: view

Transcripts for ELOVL5 Gene

Unigene Clusters for ELOVL5 Gene

ELOVL fatty acid elongase 5:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ELOVL5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a ·
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - -
SP11: - - - - -
SP12: - -
SP13: - - - - - - - - - - - - - - - - - - - -
SP14: - -

ExUns: 14b ^ 15a · 15b · 15c · 15d · 15e · 15f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14: -

Relevant External Links for ELOVL5 Gene

GeneLoc Exon Structure for
ELOVL5
ECgene alternative splicing isoforms for
ELOVL5

Expression for ELOVL5 Gene

mRNA expression in normal human tissues for ELOVL5 Gene

Protein differential expression in normal tissues from HIPED for ELOVL5 Gene

This gene is overexpressed in Breast (22.2) and Liver (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELOVL5 Gene



SOURCE GeneReport for Unigene cluster for ELOVL5 Gene Hs.520189

mRNA Expression by UniProt/SwissProt for ELOVL5 Gene

Q9NYP7-ELOV5_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum.
genes like me logo Genes that share expression patterns with ELOVL5: view

Protein tissue co-expression partners for ELOVL5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ELOVL5 Gene

Orthologs for ELOVL5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELOVL5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ELOVL5 35
  • 87.63 (n)
  • 91.3 (a)
ELOVL5 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELOVL5 35
  • 91.86 (n)
  • 96.32 (a)
ELOVL5 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elovl5 35
  • 87.29 (n)
  • 92.98 (a)
Elovl5 16
Elovl5 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELOVL5 35
  • 99.55 (n)
  • 100 (a)
ELOVL5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elovl5 35
  • 88.63 (n)
  • 92.98 (a)
oppossum
(Monodelphis domestica)
Mammalia ELOVL5 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL5 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELOVL5 35
  • 80.9 (n)
  • 84.75 (a)
ELOVL5 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELOVL5 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl5 35
  • 73.9 (n)
  • 77.97 (a)
Str.8538 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.18919 35
zebrafish
(Danio rerio)
Actinopterygii elovl5 35
  • 70.9 (n)
  • 72.51 (a)
zgc63549 35
elovl5 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Elo68alpha 36
  • 33 (a)
ManyToMany
Elo68beta 36
  • 32 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR624W 35
  • 45.43 (n)
  • 32.82 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C03542g 35
  • 42.34 (n)
  • 32.12 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FEN1 35
  • 41.79 (n)
  • 32.5 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06470 35
  • 55.8 (n)
  • 43.48 (a)
rice
(Oryza sativa)
Liliopsida Os03g0701500 35
  • 45.74 (n)
  • 31.84 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06694 35
  • 48.51 (n)
  • 33.58 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1B2.03c 35
  • 43.29 (n)
  • 31.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
ManyToMany
Species with no ortholog for ELOVL5:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ELOVL5 Gene

ENSEMBL:
Gene Tree for ELOVL5 (if available)
TreeFam:
Gene Tree for ELOVL5 (if available)

Paralogs for ELOVL5 Gene

Paralogs for ELOVL5 Gene

(4) SIMAP similar genes for ELOVL5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ELOVL5: view

Variants for ELOVL5 Gene

Sequence variations from dbSNP and Humsavar for ELOVL5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs8714 -- 53,269,503(+) CTGCA(A/G)CAGAA intron-variant
rs10897 -- 53,269,678(+) GCCTC(A/G)GCGAC intron-variant
rs186003 -- 53,320,326(-) GGGGT(G/T)GTTTT intron-variant
rs191894 -- 53,320,263(-) CTTGG(C/G)TCACT intron-variant
rs209483 -- 53,308,525(-) ACCAG(A/T)TTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELOVL5 Gene

Variant ID Type Subtype PubMed ID
esv270244 CNV Insertion 20981092
esv259443 OTHER Complex 20981092
esv259787 OTHER Complex 20981092

Variation tolerance for ELOVL5 Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELOVL5 Gene

HapMap Linkage Disequilibrium report
ELOVL5
Human Gene Mutation Database (HGMD)
ELOVL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL5 Gene

Disorders for ELOVL5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ELOVL5 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 38
  • sca38
low tension glaucoma
  • normal tension glaucoma
spinocerebellar ataxia
  • cardiac arrest
ataxia
- elite association

UniProtKB/Swiss-Prot

ELOV5_HUMAN
  • Spinocerebellar ataxia 38 (SCA38) [MIM:615957]: 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. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. {ECO:0000269 PubMed:25065913}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ELOVL5

Genetic Association Database (GAD)
ELOVL5
Human Genome Epidemiology (HuGE) Navigator
ELOVL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELOVL5
genes like me logo Genes that share disorders with ELOVL5: view

No data available for Genatlas for ELOVL5 Gene

Publications for ELOVL5 Gene

  1. ELOVL5 mutations cause spinocerebellar ataxia 38. (PMID: 25065913) Di Gregorio E. … Brusco A. (Am. J. Hum. Genet. 2014) 2 67
  2. Elevated delta-6 desaturase (FADS2) expression in the postmortem prefrontal cortex of schizophrenic patients: relationship with fatty acid composition. (PMID: 19195843) Liu Y. … McNamara R.K. (Schizophr. Res. 2009) 23 67
  3. Depression and adipose polyunsaturated fatty acids in an adolescent group. (PMID: 15380815) Mamalakis G. … Kafatos A. (Prostaglandins Leukot. Essent. Fatty Acids 2004) 23 67
  4. Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids. (PMID: 10970790) Leonard A.E. … Mukerji P. (Biochem. J. 2000) 2 67
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67

Products for ELOVL5 Gene

Sources for ELOVL5 Gene

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