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    ENOSF1 enolase superfamily member 1 [ Homo sapiens (human) ]

    Gene ID: 55556, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ENOSF1provided by HGNC
    Official Full Name
    enolase superfamily member 1provided by HGNC
    Primary source
    HGNC:HGNC:30365
    See related
    Ensembl:ENSG00000132199 MIM:607427; AllianceGenome:HGNC:30365
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RTS; FUCD; TYMSAS
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.5), kidney (RPKM 9.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ENOSF1 in Genome Data Viewer
    Location:
    18p11.32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (662986..712630, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (824595..867052, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (670318..712630, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene clusterin like 1 Neighboring gene uncharacterized LOC105371952 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:641155-642354 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657377-657878 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657879-658378 Neighboring gene TYMS opposite strand RNA Neighboring gene thymidylate synthetase Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:686134-686722 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:697612-697744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:712826-713405 Neighboring gene Sharpr-MPRA regulatory region 6782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13022 Neighboring gene YES proto-oncogene 1, Src family tyrosine kinase Neighboring gene RNA, U1 small nuclear 109, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812361-812903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812904-813445 Neighboring gene NANOG hESC enhancer GRCh37_chr18:830325-830891 Neighboring gene bolA family member 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of a naturally occurring antisense RNA to human thymidylate synthase mRNA. Dolnick BJ. Nucleic Acids Res, 1993 Apr 25. PMID 8493092, Free PMC Article
    2. Alternate splicing of the rTS gene product and its overexpression in a 5-fluorouracil-resistant cell line. Dolnick BJ, et al. Cancer Res, 1996 Jul 15. PMID 8764108
    3. Recent advances in the study of rTS proteins. rTS expression during growth and in response to thymidylate synthase inhibitors in human tumor cells. Dolnick BJ, et al. Adv Enzyme Regul, 1997. PMID 9381988
    4. A novel function for the rTS gene. Dolnick BJ, et al. Cancer Biol Ther, 2003 Jul-Aug. PMID 14508106
    5. Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ. Wichelecki DJ, et al. Biochemistry, 2014 Apr 29. PMID 24697329, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients.
      Title: Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients.
    2. Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.
      Title: Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.
    3. No significant association has been found between rs495139 in the TYMS-ENOSF1 region and risk of ovarian carcinoma of mucinous histology. (Meta-analysis)
      Title: rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.
    4. The suitability of the present method for gastric serum proteomic analysis was demonstrated and led to the identification of two peptide regions the expression of the SERPINA1 and ENOSF1
      Title: Identification of peptide regions of SERPINA1 and ENOSF1 and their protein expression as potential serum biomarkers for gastric cancer.
    5. The toxicity polymorphism in the TYMS region may actually act through ENOSF1
      Title: A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.
    6. A reverse thymidylate synthase gamma is an l-fuconate dehydratase and its high-resolution crystal structure was determined.
      Title: Enzymatic and structural characterization of rTSγ provides insights into the function of rTSβ.
    7. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population.
    9. Observational study of genetic testing. (HuGE Navigator)
      Title: High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-fuconate dehydratase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydro-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carbohydrate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in carbohydrate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    mitochondrial enolase superfamily member 1
    Names
    L-fuconate dehydratase
    antisense RNA to thymidylate synthase
    NP_001305689.1
    NP_001340994.1
    NP_001340995.1
    NP_001340996.1
    NP_001340997.1
    NP_059982.2
    NP_974487.2
    XP_024306969.1
    XP_024306970.2
    XP_024306971.1
    XP_024306972.2
    XP_024306976.1
    XP_024306977.1
    XP_024306978.1
    XP_047293567.1
    XP_047293568.1
    XP_047293569.1
    XP_047293570.1
    XP_047293571.1
    XP_047293572.1
    XP_047293573.1
    XP_047293574.1
    XP_047293575.1
    XP_047293576.1
    XP_047293577.1
    XP_047293578.1
    XP_054174756.1
    XP_054174757.1
    XP_054174758.1
    XP_054174759.1
    XP_054174760.1
    XP_054174761.1
    XP_054174762.1
    XP_054174763.1
    XP_054174764.1
    XP_054174765.1
    XP_054174766.1
    XP_054174767.1
    XP_054174768.1
    XP_054174769.1
    XP_054174770.1
    XP_054174771.1
    XP_054174772.1
    XP_054174773.1
    XP_054174774.1
    XP_054174775.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318760.2 → NP_001305689.1  mitochondrial enolase superfamily member 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001178, BF591232, BP265528, BX648215
      UniProtKB/Swiss-Prot
      Q7L5Y1
      Conserved Domains (1) summary
      cl25395
      Location:1 → 238
      enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

    2. NM_001354065.2 → NP_001340994.1  mitochondrial enolase superfamily member 1 isoform rTSalpha

      Status: REVIEWED

      Source sequence(s)
      AP001178
      Consensus CDS
      CCDS45821.1
      Related
      ENSP00000373072.3, ENST00000383578.7
      Conserved Domains (1) summary
      cl25395
      Location:19 → 337
      enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

    3. NM_001354066.2 → NP_001340995.1  mitochondrial enolase superfamily member 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP001178
      Conserved Domains (1) summary
      cd03324
      Location:4 → 405
      rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

    4. NM_001354067.2 → NP_001340996.1  mitochondrial enolase superfamily member 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001178
      Conserved Domains (1) summary
      cd03324
      Location:4 → 467
      rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

    5. NM_001354068.2 → NP_001340997.1  mitochondrial enolase superfamily member 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001178
      Conserved Domains (1) summary
      cl25395
      Location:4 → 390
      enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

    6. NM_017512.7 → NP_059982.2  mitochondrial enolase superfamily member 1 isoform rTSbeta

      See identical proteins and their annotated locations for NP_059982.2

      Status: REVIEWED

      Source sequence(s)
      AP001178, BC001285
      Consensus CDS
      CCDS11822.1
      UniProtKB/Swiss-Prot
      A6NMP3, A8K9R5, B3KSL6, B3KXE4, D3DUH0, Q15407, Q15594, Q15595, Q6ZS08, Q7L5Y1, Q9HAS5, Q9HAS6
      Related
      ENSP00000497230.2, ENST00000647584.2
      Conserved Domains (1) summary
      cd03324
      Location:4 → 419
      rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

    7. NM_202758.5 → NP_974487.2  mitochondrial enolase superfamily member 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001178, AW001055, BC001285, BG762286, DB242380
      Consensus CDS
      CCDS11823.2
      UniProtKB/TrEMBL
      A0A3F2YNX7
      Related
      ENSP00000345974.8, ENST00000340116.12
      Conserved Domains (1) summary
      cd03324
      Location:4 → 453
      rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

    RNA

    1. NR_148706.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001178, BP265528, BQ006646, BQ017246, X67098

    2. NR_148707.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK292780, AP001178, BQ006646

    3. NR_148708.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001178

    4. NR_148709.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001178

    5. NR_148710.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001178

    6. NR_148711.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001178

    7. NR_148712.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001178

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      662986..712630 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437611.1 → XP_047293567.1  mitochondrial enolase superfamily member 1 isoform X1

      UniProtKB/TrEMBL
      Q14754

    2. XM_047437621.1 → XP_047293577.1  mitochondrial enolase superfamily member 1 isoform X17

    3. XM_024451208.2 → XP_024306976.1  mitochondrial enolase superfamily member 1 isoform X9

      Conserved Domains (1) summary
      cl25395
      Location:4 → 344
      enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

    4. XM_024451209.2 → XP_024306977.1  mitochondrial enolase superfamily member 1 isoform X10

      UniProtKB/TrEMBL
      J3QL81
      Related
      ENSP00000463425.1, ENST00000580982.5
      Conserved Domains (1) summary
      cl25395
      Location:4 → 343
      enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

    5. XM_047437614.1 → XP_047293570.1  mitochondrial enolase superfamily member 1 isoform X8

    6. XM_024451210.2 → XP_024306978.1  mitochondrial enolase superfamily member 1 isoform X11

      Conserved Domains (1) summary
      cl25395
      Location:19 → 342
      enolase_like; Enolase-superfamily, characterized by the presence of an enolate anion intermediate which is generated by abstraction of the alpha-proton of the carboxylate substrate by an active site residue and is stabilized by coordination to the essential Mg2+ ion. ...

    7. XM_047437612.1 → XP_047293568.1  mitochondrial enolase superfamily member 1 isoform X5

    8. XM_024451203.2 → XP_024306971.1  mitochondrial enolase superfamily member 1 isoform X4

      Conserved Domains (1) summary
      cd03324
      Location:4 → 411
      rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

    9. XM_024451201.2 → XP_024306969.1  mitochondrial enolase superfamily member 1 isoform X2

      Conserved Domains (1) summary
      cd03324
      Location:4 → 424
      rTSbeta_L-fuconate_dehydratase; Human rTS beta is encoded by the rTS gene which, through alternative RNA splicing, also encodes rTS alpha whose mRNA is complementary to thymidylate synthase mRNA. rTS beta expression is associated with the production of small molecules that appear to ...

    10. XM_047437613.1 → XP_047293569.1  mitochondrial enolase superfamily member 1 isoform X6

    11. XM_024451204.2 → XP_024306972.2  mitochondrial enolase superfamily member 1 isoform X7

    12. XM_024451202.2 → XP_024306970.2  mitochondrial enolase superfamily member 1 isoform X3

    13. XM_047437617.1 → XP_047293573.1  mitochondrial enolase superfamily member 1 isoform X14

    14. XM_047437618.1 → XP_047293574.1  mitochondrial enolase superfamily member 1 isoform X15

    15. XM_047437620.1 → XP_047293576.1  mitochondrial enolase superfamily member 1 isoform X17

    16. XM_047437616.1 → XP_047293572.1  mitochondrial enolase superfamily member 1 isoform X13

    17. XM_047437615.1 → XP_047293571.1  mitochondrial enolase superfamily member 1 isoform X12

    18. XM_047437619.1 → XP_047293575.1  mitochondrial enolase superfamily member 1 isoform X16

    19. XM_047437622.1 → XP_047293578.1  mitochondrial enolase superfamily member 1 isoform X18

    RNA

    1. XR_007066189.1 RNA Sequence

    2. XR_007066188.1 RNA Sequence

    3. XR_007066190.1 RNA Sequence

    4. XR_007066185.1 RNA Sequence

    5. XR_007066186.1 RNA Sequence

    6. XR_007066184.1 RNA Sequence

    7. XR_007066183.1 RNA Sequence

    8. XR_007066187.1 RNA Sequence

    9. XR_430041.5 RNA Sequence

    10. XR_007066181.1 RNA Sequence

    11. XR_007066182.1 RNA Sequence

    12. XR_007066192.1 RNA Sequence

    13. XR_007066191.1 RNA Sequence

    14. XR_007066193.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      824595..867052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318784.1 → XP_054174759.1  mitochondrial enolase superfamily member 1 isoform X22

    2. XM_054318782.1 → XP_054174757.1  mitochondrial enolase superfamily member 1 isoform X20

    3. XM_054318783.1 → XP_054174758.1  mitochondrial enolase superfamily member 1 isoform X21

    4. XM_054318781.1 → XP_054174756.1  mitochondrial enolase superfamily member 1 isoform X19

    5. XM_054318799.1 → XP_054174774.1  mitochondrial enolase superfamily member 1 isoform X17

    6. XM_054318793.1 → XP_054174768.1  mitochondrial enolase superfamily member 1 isoform X9

    7. XM_054318794.1 → XP_054174769.1  mitochondrial enolase superfamily member 1 isoform X10

      UniProtKB/TrEMBL
      J3QL81

    8. XM_054318795.1 → XP_054174770.1  mitochondrial enolase superfamily member 1 isoform X27

    9. XM_054318792.1 → XP_054174767.1  mitochondrial enolase superfamily member 1 isoform X8

    10. XM_054318787.1 → XP_054174762.1  mitochondrial enolase superfamily member 1 isoform X5

    11. XM_054318786.1 → XP_054174761.1  mitochondrial enolase superfamily member 1 isoform X4

    12. XM_054318785.1 → XP_054174760.1  mitochondrial enolase superfamily member 1 isoform X2

    13. XM_054318788.1 → XP_054174763.1  mitochondrial enolase superfamily member 1 isoform X23

    14. XM_054318789.1 → XP_054174764.1  mitochondrial enolase superfamily member 1 isoform X24

    15. XM_054318797.1 → XP_054174772.1  mitochondrial enolase superfamily member 1 isoform X14

    16. XM_054318800.1 → XP_054174775.1  mitochondrial enolase superfamily member 1 isoform X17

    17. XM_054318798.1 → XP_054174773.1  mitochondrial enolase superfamily member 1 isoform X17

    18. XM_054318790.1 → XP_054174765.1  mitochondrial enolase superfamily member 1 isoform X25

    19. XM_054318791.1 → XP_054174766.1  mitochondrial enolase superfamily member 1 isoform X26

    20. XM_054318796.1 → XP_054174771.1  mitochondrial enolase superfamily member 1 isoform X28

    RNA

    1. XR_008485006.1 RNA Sequence

    2. XR_008485007.1 RNA Sequence

    3. XR_008485005.1 RNA Sequence

    4. XR_008485014.1 RNA Sequence

    5. XR_008485013.1 RNA Sequence

    6. XR_008485015.1 RNA Sequence

    7. XR_008485010.1 RNA Sequence

    8. XR_008485011.1 RNA Sequence

    9. XR_008485008.1 RNA Sequence

    10. XR_008485012.1 RNA Sequence

    11. XR_008485017.1 RNA Sequence

    12. XR_008485004.1 RNA Sequence

    13. XR_008485009.1 RNA Sequence

    14. XR_008485016.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001126123.3: Suppressed sequence

      Description
      NM_001126123.3: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_001318759.1: Suppressed sequence

      Description
      NM_001318759.1: This RefSeq was removed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5Y1.1 GenPept UniProtKB/Swiss-Prot:Q7L5Y1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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