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 a... See more...

Aliases for ENOSF1 Gene

Aliases for ENOSF1 Gene

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

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. Diseases associated with ENOSF1 include Pompholyx and Rothmund-Thomson Syndrome, Type 2. Among its related pathways are Metabolism and Fructose and mannose metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and L-fuconate dehydratase activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ENOSF1 Gene

Genomics for ENOSF1 Gene

GeneHancer (GH) Regulatory Elements for ENOSF1 Gene

Promoters and enhancers for ENOSF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENOSF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENOSF1

Top Transcription factor binding sites by QIAGEN in the ENOSF1 gene promoter:
  • Arnt
  • Nkx2-2
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for ENOSF1 Gene

Genomic Locations for ENOSF1 Gene
chr18:670,318-712,662
(GRCh38/hg38)
Size:
42,345 bases
Orientation:
Minus strand
chr18:670,324-712,676
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA47471.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Protein Domains for ENOSF1 Gene

Blocks:
  • Mandelate racemase/muconate lactonizing enzyme
  • Mandelate racemase/muconate lactonizing enzyme, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENOSF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36554 fis, clone TRACH2008597, highly similar to Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 2, mRNA (B3KSL6_HUMAN)
  • Antisense RNA to thymidylate synthase (ENOF1_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-fuconate = 2-dehydro-3-deoxy-L-fuconate + H2O; Xref=Rhea:RHEA:22772, ChEBI:CHEBI:15377, ChEBI:CHEBI:21291, ChEBI:CHEBI:37448; EC=4.2.1.68; Evidence=. ;.
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.;

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

miRNA for ENOSF1 Gene

miRTarBase miRNAs that target ENOSF1

Clone Products

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
cytosol 2
extracellular 1
cytoskeleton 1
nucleus 1

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

PathCards logo

SuperPathways for ENOSF1 Gene

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

Pathways by source for ENOSF1 Gene

2 KEGG pathways 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

(4) 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 1594
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2258
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1796
Magnesium Approved, Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with ENOSF1: view

Transcripts for ENOSF1 Gene

mRNA/cDNA for ENOSF1 Gene

9 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

Expression for ENOSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ENOSF1 Gene



Protein tissue co-expression partners for ENOSF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENOSF1 31 30
  • 88.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENOSF1 31 30
  • 86.31 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENOSF1 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENOSF1 31
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENOSF1 31
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii enosf1 31 30
  • 68.41 (n)
OneToOne
Dr.22084 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007421 30
  • 55.3 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07064 30
  • 57.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToOne
Cin.1598 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1598 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for ENOSF1: view image

Paralogs for ENOSF1 Gene

No data available for Paralogs for ENOSF1 Gene

Variants for ENOSF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENOSF1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
718816 Likely Benign: not provided 671,433(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs11280056 Drug Response: capecitabine response - Efficacy; fluorouracil response - Efficacy 673,443(-) TTTAAAG/T THREE_PRIME_UTR_VARIANT
rs2612086 - p.Met145Thr
rs2847620 - p.Tyr428Ser
rs34724061 - p.Asp31Glu

Additional dbSNP identifiers (rs#s) for ENOSF1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(3) MalaCards diseases for ENOSF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pompholyx
  • cheiropompholyx
rothmund-thomson syndrome, type 2
  • rts2
3-methylglutaconic aciduria, type iii
  • mgca3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ENOSF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ENOSF1: view

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

Publications for ENOSF1 Gene

  1. Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ. (PMID: 24697329) Wichelecki DJ … Gerlt JA (Biochemistry 2014) 2 3 4 54
  2. 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 23 41 54
  3. 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 23 54
  4. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. (PMID: 20565774) Cross DS … McCarty CA (BMC genetics 2010) 3 41 54
  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 41 54

Products for ENOSF1 Gene

Sources for ENOSF1 Gene