Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ELOVL1 Gene

Aliases for ELOVL1 Gene

  • ELOVL Fatty Acid Elongase 1 2 3 4 5
  • Elongation Of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3, Yeast)-Like 1 2 3
  • Very Long Chain 3-Ketoacyl-CoA Synthase 1 3 4
  • Very Long Chain 3-Oxoacyl-CoA Synthase 1 3 4
  • 3-Keto Acyl-CoA Synthase ELOVL1 3 4
  • ELOVL FA Elongase 1 3 4
  • SSC1 3 4
  • Elongation Of Very Long Chain Fatty Acids Protein 1 3
  • EC 2.3.1.199 4
  • CGI-88 3

External Ids for ELOVL1 Gene

Previous GeneCards Identifiers for ELOVL1 Gene

  • GC01M043772
  • GC01M042829
  • GC01M043258
  • GC01M043242
  • GC01M043498
  • GC01M043601
  • GC01M043829
  • GC01M041948

Summaries for ELOVL1 Gene

GeneCards Summary for ELOVL1 Gene

ELOVL1 (ELOVL Fatty Acid Elongase 1) is a Protein Coding gene. Diseases associated with ELOVL1 include Cerebral Degeneration. Among its related pathways are Fatty acid elongation and Fatty Acyl-CoA Biosynthesis. GO annotations related to this gene include fatty acid elongase activity. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot for ELOVL1 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 exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELOVL1 Gene

Genomics for ELOVL1 Gene

Regulatory Elements for ELOVL1 Gene

Enhancers for ELOVL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G043293 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +73.0 73002 3.8 HDGF TBP KLF17 RAD21 YY1 FOS RELB ETV6 IKZF2 ZNF362 MED8 EBNA1BP2 MPL CDC20 LOC105378687 ELOVL1 ENSG00000229431 SZT2 FAM183A ATP6V0B
GH01G043283 1.4 Ensembl ENCODE dbSUPER 10.7 +82.8 82778 3.2 FOXA2 SIN3A RAD21 RARA ZNF121 EGR1 SP5 CEBPB ZNF592 SMARCA4 CFAP57 SZT2 MPL ENSG00000229431 MED8 CDC20 LOC105378687 ELOVL1 TMEM125 C1orf210
GH01G043471 1.4 Ensembl ENCODE dbSUPER 10.5 -106.5 -106493 6.8 ATF1 SIN3A ARID4B GATA2 FOS YY2 REST KAT8 SMARCA4 MXD3 MED8 SZT2 KDM4A-AS1 PTPRF ELOVL1 CDC20 LOC105378687 MPL PPIH ST3GAL3
GH01G043404 1 ENCODE 11.3 -37.3 -37336 1.1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 ZNF263 NCOA1 MEF2D MBD2 MED8 HYI ENSG00000229431 ELOVL1 LOC105378687 CDC20 SZT2 SZT2-AS1 HYI-AS1 EBNA1BP2
GH01G043239 0.9 Ensembl 11.8 +129.6 129574 0.2 ELF3 THRB ZNF48 RAD21 RARA YY1 SLC30A9 ZNF143 SP5 MXD4 TMEM125 ELOVL1 LOC105378687 CDC20 ENSG00000229431 MED8 SZT2 HYI HYI-AS1 SZT2-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELOVL1 on UCSC Golden Path with GeneCards custom track

Promoters for ELOVL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005585 174 1801 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9

Genomic Location for ELOVL1 Gene

Chromosome:
1
Start:
43,363,397 bp from pter
End:
43,368,074 bp from pter
Size:
4,678 bases
Orientation:
Minus strand

Genomic View for ELOVL1 Gene

Genes around ELOVL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELOVL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELOVL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELOVL1 Gene

Proteins for ELOVL1 Gene

  • Protein details for ELOVL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW60-ELOV1_HUMAN
    Recommended name:
    Elongation of very long chain fatty acids protein 1
    Protein Accession:
    Q9BW60
    Secondary Accessions:
    • B4DP24
    • Q53HT2
    • Q5JUY3
    • Q8WXU3
    • Q9NVD9
    • Q9Y396

    Protein attributes for ELOVL1 Gene

    Size:
    279 amino acids
    Molecular mass:
    32663 Da
    Quaternary structure:
    • Interacts with LASS2, TECR and HSD17B12.
    SequenceCaution:
    • Sequence=AAD34083.1; Type=Frameshift; Positions=189; Evidence={ECO:0000305};

    Alternative splice isoforms for ELOVL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELOVL1 Gene

Post-translational modifications for ELOVL1 Gene

  • Ubiquitination at Lys13
  • Modification sites at PhosphoSitePlus

Other Protein References for ELOVL1 Gene

No data available for DME Specific Peptides for ELOVL1 Gene

Domains & Families for ELOVL1 Gene

Protein Domains for ELOVL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BW60

UniProtKB/Swiss-Prot:

ELOV1_HUMAN :
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
  • Belongs to the ELO family. ELOVL1 subfamily.
Domain:
  • The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
Family:
  • Belongs to the ELO family. ELOVL1 subfamily.
genes like me logo Genes that share domains with ELOVL1: view

No data available for Gene Families for ELOVL1 Gene

Function for ELOVL1 Gene

Molecular function for ELOVL1 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 exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs.

Enzyme Numbers (IUBMB) for ELOVL1 Gene

Gene Ontology (GO) - Molecular Function for ELOVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20937905
GO:0009922 fatty acid elongase activity IDA 20166112
GO:0016740 transferase activity IEA --
GO:0102336 3-oxo-arachidoyl-CoA synthase activity IEA --
GO:0102337 3-oxo-cerotoyl-CoA synthase activity IEA --
genes like me logo Genes that share ontologies with ELOVL1: view
genes like me logo Genes that share phenotypes with ELOVL1: view

Animal Models for ELOVL1 Gene

MGI Knock Outs for ELOVL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ELOVL1

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ELOVL1 Gene

Localization for ELOVL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELOVL1 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 ELOVL1 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ELOVL1 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,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 20166112
genes like me logo Genes that share ontologies with ELOVL1: view

Pathways & Interactions for ELOVL1 Gene

genes like me logo Genes that share pathways with ELOVL1: view

UniProtKB/Swiss-Prot Q9BW60-ELOV1_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for ELOVL1 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:0019367 fatty acid elongation, saturated fatty acid IDA 20166112
GO:0030148 sphingolipid biosynthetic process IMP 20937905
genes like me logo Genes that share ontologies with ELOVL1: view

No data available for SIGNOR curated interactions for ELOVL1 Gene

Drugs & Compounds for ELOVL1 Gene

(4) Drugs for ELOVL1 Gene - From: HMDB

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

(2) Additional Compounds for ELOVL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
  • (S)-3-hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-Coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
3-hydroxyoctadecanoyl-CoA
  • 3-Hydroxyoctadecanoyl-coenzyme A
  • 3-Hydroxystearoyl-CoA
  • 3-Hydroxystearoyl-Coenzyme A
  • beta-Hydroxystearoyl-coa
  • beta-Hydroxystearyl-coa
42578-91-6
genes like me logo Genes that share compounds with ELOVL1: view

Transcripts for ELOVL1 Gene

Unigene Clusters for ELOVL1 Gene

ELOVL fatty acid elongase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12a ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - -
SP8: - - - - -
SP9: - - - - -
SP10: - - - - - - - - -
SP11: - - - - -
SP12: -
SP13: - - - - - -
SP14: -
SP15: - - - - - -

ExUns: 12b · 12c · 12d · 12e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ELOVL1 Gene

GeneLoc Exon Structure for
ELOVL1
ECgene alternative splicing isoforms for
ELOVL1

Expression for ELOVL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ELOVL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELOVL1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.2).

Protein differential expression in normal tissues from HIPED for ELOVL1 Gene

This gene is overexpressed in Nasal epithelium (43.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELOVL1 Gene



Protein tissue co-expression partners for ELOVL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ELOVL1 Gene:

ELOVL1

SOURCE GeneReport for Unigene cluster for ELOVL1 Gene:

Hs.25597

mRNA Expression by UniProt/SwissProt for ELOVL1 Gene:

Q9BW60-ELOV1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ELOVL1 Gene

  • Kidney(4.3)
  • Nervous system(4.2)
  • Skin(3.6)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with ELOVL1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ELOVL1 Gene

Orthologs for ELOVL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ELOVL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELOVL1 34 35
  • 99.76 (n)
oppossum
(Monodelphis domestica)
Mammalia ELOVL1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELOVL1 34 35
  • 91.61 (n)
cow
(Bos Taurus)
Mammalia ELOVL1 34 35
  • 90.68 (n)
mouse
(Mus musculus)
Mammalia Elovl1 34 16 35
  • 89.49 (n)
rat
(Rattus norvegicus)
Mammalia Elovl1 34
  • 88.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ELOVL1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELOVL1 34 35
  • 73.46 (n)
lizard
(Anolis carolinensis)
Reptilia ELOVL1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elovl1 34
  • 70.49 (n)
Str.8407 34
African clawed frog
(Xenopus laevis)
Amphibia elovl1-prov 34
zebrafish
(Danio rerio)
Actinopterygii elovl1b 34 35
  • 67.03 (n)
elovl1a 35
  • 57 (a)
OneToMany
wufj32h05 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9701 34
fruit fly
(Drosophila melanogaster)
Insecta CG31522 34 35
  • 54.9 (n)
CG2781 36 35
  • 48 (a)
CG5278 36 35
  • 48 (a)
CG5326 36 35
  • 41 (a)
CG6660 36 35
  • 37 (a)
CG6921 36
  • 37 (a)
CG8534 36 35
  • 36 (a)
CG33110 35
  • 36 (a)
ManyToMany
CG16905 36
  • 35 (a)
CG31523 35
  • 33 (a)
ManyToMany
eloF 35
  • 32 (a)
ManyToMany
CG17821 36 35
  • 31 (a)
bond 35
  • 31 (a)
ManyToMany
CG16904 35
  • 31 (a)
ManyToMany
CG9458 35
  • 31 (a)
ManyToMany
CG18609 35
  • 30 (a)
ManyToMany
CG30008 35
  • 27 (a)
ManyToMany
CG31141 35
  • 27 (a)
ManyToMany
CG9459 35
  • 27 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004373 34
  • 54.12 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ELO1 35
  • 19 (a)
ManyToMany
SUR4 35
  • 19 (a)
ManyToMany
FEN1 35
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for ELOVL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ELOVL1 Gene

ENSEMBL:
Gene Tree for ELOVL1 (if available)
TreeFam:
Gene Tree for ELOVL1 (if available)

Paralogs for ELOVL1 Gene

Paralogs for ELOVL1 Gene

(4) SIMAP similar genes for ELOVL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ELOVL1: view

Variants for ELOVL1 Gene

Sequence variations from dbSNP and Humsavar for ELOVL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000849032 -- 43,367,461(+) ACCAC(C/T)AGCCC intron-variant
rs1000928572 -- 43,363,685(+) CTCTG(C/G)AGTGG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1001713724 -- 43,368,084(+) GGCCG(A/G)CAGGG upstream-variant-2KB
rs1002013283 -- 43,369,847(+) GCAAC(A/C)CAGTG upstream-variant-2KB
rs1002036851 -- 43,364,928(+) CTTAC(C/T)CTAAG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ELOVL1 Gene

Variant ID Type Subtype PubMed ID
nsv546128 CNV loss 21841781

Variation tolerance for ELOVL1 Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELOVL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELOVL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELOVL1 Gene

Disorders for ELOVL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELOVL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cerebral degeneration
  • brain degeneration
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ELOVL1

Human Genome Epidemiology (HuGE) Navigator
ELOVL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELOVL1
genes like me logo Genes that share disorders with ELOVL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELOVL1 Gene

Publications for ELOVL1 Gene

  1. The role of ELOVL1 in very long-chain fatty acid homeostasis and X- linked adrenoleukodystrophy. (PMID: 20166112) Ofman R. … Kemp S. (EMBO Mol. Med. 2010) 3 4 64
  2. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y. … Kihara A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4 64

Products for ELOVL1 Gene

Sources for ELOVL1 Gene

Content
Loading form....