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Aliases for ENOSF1 Gene

Aliases for ENOSF1 Gene

  • Enolase Superfamily Member 1 2 3 5
  • Antisense RNA To Thymidylate Synthase 3 4
  • L-Fuconate Dehydratase 3 4
  • TYMSAS 3 4
  • RTS 3 4
  • Mitochondrial Enolase Superfamily Member 1 3
  • EC 4.2.1.68 4

External Ids for ENOSF1 Gene

Summaries for ENOSF1 Gene

Entrez Gene Summary for ENOSF1 Gene

  • This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]

GeneCards Summary for ENOSF1 Gene

ENOSF1 (Enolase Superfamily Member 1) is a Protein Coding gene. Among its related pathways are Fructose and mannose metabolism. GO annotations related to this gene include magnesium ion binding and L-fuconate dehydratase activity.

UniProtKB/Swiss-Prot for ENOSF1 Gene

  • Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329).

Additional gene information for ENOSF1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENOSF1 Gene

Genomics for ENOSF1 Gene

Regulatory Elements for ENOSF1 Gene

Enhancers for ENOSF1 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
GH18H000708 1.7 FANTOM5 ENCODE dbSUPER 36.7 +1.6 1649 4 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 SP5 ENOSF1 THOC1 TYMS TYMSOS RNU1-109P YES1 ENSG00000265490
GH18H000698 1.5 Ensembl ENCODE dbSUPER 34 +10.4 10438 6 PKNOX1 FOXA2 MLX ARID4B FEZF1 ZNF2 FOS ATF7 SP3 REST ENOSF1 TYMSOS TYMS RNU1-109P THOC1 ENSG00000265490 GC18M000704 PIR56960
GH18H000679 1.3 FANTOM5 ENCODE dbSUPER 32.3 +29.3 29320 7 SOX13 PKNOX1 FOXA2 ZNF384 ZIC2 ZFHX2 LCORL POLR2A RERE NR2F6 ENOSF1 TYMS TYMSOS CLUL1 RNU1-109P ENSG00000265490 PIR56960 GC18M000704
GH18H000656 1.4 ENCODE dbSUPER 23.2 +54.7 54745 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 THOC1 ENOSF1 RN7SKP146 LINC01925 ENSG00000265671 LOC105371953 SLC25A3P3 LOC105371950 IL9RP4 ENSG00000266602
GH18H000692 0.7 ENCODE dbSUPER 31.7 +19.5 19450 2 GLIS1 ZIC2 ENOSF1 TYMSOS TYMS GC18M000704 PIR56960
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENOSF1 on UCSC Golden Path with GeneCards custom track

Promoters for ENOSF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099851 476 2001 FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 SP5

Genomic Location for ENOSF1 Gene

Chromosome:
18
Start:
670,324 bp from pter
End:
712,676 bp from pter
Size:
42,353 bases
Orientation:
Minus strand

Genomic View for ENOSF1 Gene

Genes around ENOSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENOSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENOSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENOSF1 Gene

Proteins for ENOSF1 Gene

  • Protein details for ENOSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L5Y1-ENOF1_HUMAN
    Recommended name:
    Mitochondrial enolase superfamily member 1
    Protein Accession:
    Q7L5Y1
    Secondary Accessions:
    • A6NMP3
    • A8K9R5
    • B3KSL6
    • B3KXE4
    • D3DUH0
    • Q15407
    • Q15594
    • Q15595
    • Q6ZS08
    • Q9HAS5
    • Q9HAS6

    Protein attributes for ENOSF1 Gene

    Size:
    443 amino acids
    Molecular mass:
    49786 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG29537.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA47471.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ENOSF1 Gene

    Alternative splice isoforms for ENOSF1 Gene

neXtProt entry for ENOSF1 Gene

Post-translational modifications for ENOSF1 Gene

No data available for DME Specific Peptides for ENOSF1 Gene

Domains & Families for ENOSF1 Gene

Gene Families for ENOSF1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q7L5Y1

UniProtKB/Swiss-Prot:

ENOF1_HUMAN :
  • Belongs to the mandelate racemase/muconate lactonizing enzyme family. ENOSF1 subfamily.
Family:
  • Belongs to the mandelate racemase/muconate lactonizing enzyme family. ENOSF1 subfamily.
genes like me logo Genes that share domains with ENOSF1: view

Function for ENOSF1 Gene

Molecular function for ENOSF1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.2 mM for L-fuconate {ECO:0000269 PubMed:24697329}; KM=3.0 mM for L-galactonate {ECO:0000269 PubMed:24697329}; KM=2.0 mM for D-arabinonate {ECO:0000269 PubMed:24697329}; KM=4.0 mM for L-arabinonate {ECO:0000269 PubMed:24697329}; KM=0.4 mM for D-ribonate {ECO:0000269 PubMed:24697329}; Note=kcat is 0.5 sec(-1) for L-fuconate. kcat is 0.3 sec(-1) for L-galactonate. kcat is 0.3 sec(-1) for L-arabinonate. kcat is 0.04 sec(-1) for D-arabinonate. kcat is 0.002 sec(-1) for D- ribonate.;
UniProtKB/Swiss-Prot CatalyticActivity:
L-fuconate = 2-dehydro-3-deoxy-L-fuconate + H(2)O.
UniProtKB/Swiss-Prot Function:
Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329).

Enzyme Numbers (IUBMB) for ENOSF1 Gene

Phenotypes From GWAS Catalog for ENOSF1 Gene

Gene Ontology (GO) - Molecular Function for ENOSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 24697329
GO:0016829 lyase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0050023 L-fuconate dehydratase activity IDA 24697329
genes like me logo Genes that share ontologies with ENOSF1: view
genes like me logo Genes that share phenotypes with ENOSF1: view

Animal Model Products

CRISPR Products

miRNA for ENOSF1 Gene

miRTarBase miRNAs that target ENOSF1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENOSF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENOSF1 Gene

Localization for ENOSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENOSF1 Gene

Mitochondrion.

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 ENOSF1 gene
Compartment Confidence
mitochondrion 3
cytoskeleton 2
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for ENOSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ENOSF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ENOSF1 Gene

Pathways & Interactions for ENOSF1 Gene

genes like me logo Genes that share pathways with ENOSF1: view

Pathways by source for ENOSF1 Gene

1 KEGG pathway for ENOSF1 Gene

Interacting Proteins for ENOSF1 Gene

Gene Ontology (GO) - Biological Process for ENOSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009063 cellular amino acid catabolic process IEA --
GO:0016052 carbohydrate catabolic process IEA --
GO:0044275 cellular carbohydrate catabolic process IDA 24697329
genes like me logo Genes that share ontologies with ENOSF1: view

No data available for SIGNOR curated interactions for ENOSF1 Gene

Drugs & Compounds for ENOSF1 Gene

(2) Drugs for ENOSF1 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1362
Magnesium Nutra 0
genes like me logo Genes that share compounds with ENOSF1: view

Transcripts for ENOSF1 Gene

Unigene Clusters for ENOSF1 Gene

Enolase superfamily member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENOSF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ENOSF1 Gene

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

ExUns: 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ENOSF1 Gene

GeneLoc Exon Structure for
ENOSF1
ECgene alternative splicing isoforms for
ENOSF1

Expression for ENOSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENOSF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ENOSF1 Gene

This gene is overexpressed in Gallbladder (16.8) and Liver (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ENOSF1 Gene



Protein tissue co-expression partners for ENOSF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ENOSF1 Gene:

ENOSF1

SOURCE GeneReport for Unigene cluster for ENOSF1 Gene:

Hs.731510

Evidence on tissue expression from TISSUES for ENOSF1 Gene

  • Liver(4.4)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with ENOSF1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENOSF1 Gene

Orthologs for ENOSF1 Gene

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

Orthologs for ENOSF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENOSF1 33 34
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia ENOSF1 33 34
  • 88.41 (n)
cow
(Bos Taurus)
Mammalia ENOSF1 33 34
  • 86.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ENOSF1 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENOSF1 34
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENOSF1 34
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii enosf1 33 34
  • 68.41 (n)
Dr.22084 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007421 33
  • 55.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07064 33
  • 57.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1598 33
Species where no ortholog for ENOSF1 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENOSF1 Gene

ENSEMBL:
Gene Tree for ENOSF1 (if available)
TreeFam:
Gene Tree for ENOSF1 (if available)

Paralogs for ENOSF1 Gene

No data available for Paralogs for ENOSF1 Gene

Variants for ENOSF1 Gene

Sequence variations from dbSNP and Humsavar for ENOSF1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs151264360 drug-response 673,444(+) GAACT(-/TTAAAG)TTATA intron-variant, downstream-variant-500B, utr-variant-3-prime, cds-indel
rs1000103586 -- 703,146(+) GAGTC(A/G)TTAAT intron-variant
rs1000136158 -- 703,342(+) GCAAA(G/T)TTTAA intron-variant
rs1000334068 -- 691,962(+) TATGA(A/G)GCTGG intron-variant, nc-transcript-variant
rs1000372743 -- 708,570(+) TGCTA(A/G)GGCCT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ENOSF1 Gene

Variant ID Type Subtype PubMed ID
dgv3307n100 CNV gain 25217958
dgv5810n54 CNV gain 21841781
dgv967e212 CNV loss 25503493
esv1238079 CNV insertion 17803354
esv2664396 CNV deletion 23128226
esv2716656 CNV deletion 23290073
esv2758709 CNV loss 17122850
esv3582937 CNV loss 25503493
esv3641496 CNV loss 21293372
esv3641497 CNV gain 21293372
esv3641503 CNV gain 21293372
esv3641506 CNV loss 21293372
esv3893055 CNV gain 25118596
nsv1060188 CNV gain 25217958
nsv131646 CNV deletion 16902084
nsv482935 CNV loss 15286789
nsv523729 CNV loss 19592680
nsv527894 CNV loss 19592680
nsv528169 CNV loss 19592680
nsv576228 CNV loss 21841781
nsv576236 CNV gain 21841781
nsv576239 CNV gain 21841781
nsv576242 CNV gain 21841781
nsv833577 CNV gain+loss 17160897

Variation tolerance for ENOSF1 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.35; 76.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENOSF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENOSF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENOSF1 Gene

Disorders for ENOSF1 Gene

Relevant External Links for ENOSF1

Genetic Association Database (GAD)
ENOSF1
Human Genome Epidemiology (HuGE) Navigator
ENOSF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENOSF1

No disorders were found for ENOSF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENOSF1 Gene

Publications for ENOSF1 Gene

  1. Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population. (PMID: 19190136) Xu WH … Shu XO (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 45 60
  2. Comparative genomic analysis reveals a novel mitochondrial isoform of human rTS protein and unusual phylogenetic distribution of the rTS gene. (PMID: 16162288) Liang P … Dolnick BJ (BMC genomics 2005) 3 4 22 60
  3. Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ. (PMID: 24697329) Wichelecki DJ … Gerlt JA (Biochemistry 2014) 3 4 60
  4. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. (PMID: 20458436) Giusti B … Abbate R (Thrombosis and haemostasis 2010) 3 45 60
  5. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y … Huang W (Journal of human genetics 2010) 3 45 60

Products for ENOSF1 Gene

Sources for ENOSF1 Gene

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