LOCUS       NM_017512               5362 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens enolase superfamily member 1 (ENOSF1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017512
VERSION     NM_017512.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5362)
  AUTHORS   Arjmandi,K., Ameli,F., Salahshourifar,I., Esfandbod,M. and Irani,S.
  TITLE     Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to
            Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients
  JOURNAL   Asian Pac J Cancer Prev 23 (9), 2983-2989 (2022)
   PUBMED   36172660
  REMARK    GeneRIF: Evaluation of TS and ENOSF1 Variants as a Biomarker in
            Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer
            Patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5362)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 5362)
  AUTHORS   Hamzic,S., Kummer,D., Froehlich,T.K., Joerger,M., Aebi,S.,
            Palles,C., Thomlinson,I., Meulendijks,D., Schellens,J.H.M.,
            Garcia-Gonzalez,X., Lopez-Fernandez,L.A., Amstutz,U. and
            Largiader,C.R.
  TITLE     Evaluating the role of ENOSF1 and TYMS variants as predictors in
            fluoropyrimidine-related toxicities: An IPD meta-analysis
  JOURNAL   Pharmacol Res 152, 104594 (2020)
   PUBMED   31838077
  REMARK    GeneRIF: Evaluating the role of ENOSF1 and TYMS variants as
            predictors in fluoropyrimidine-related toxicities: An IPD
            meta-analysis.
REFERENCE   4  (bases 1 to 5362)
  AUTHORS   Giusti,B., Sestini,I., Saracini,C., Sticchi,E., Bolli,P., Magi,A.,
            Gori,A.M., Marcucci,R., Gensini,G.F. and Abbate,R.
  TITLE     High-throughput multiplex single-nucleotide polymorphism (SNP)
            analysis in genes involved in methionine metabolism
  JOURNAL   Biochem Genet 46 (7-8), 406-423 (2008)
   PUBMED   18427977
  REMARK    GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE   5  (bases 1 to 5362)
  AUTHORS   Liang,P., Nair,J.R., Song,L., McGuire,J.J. and Dolnick,B.J.
  TITLE     Comparative genomic analysis reveals a novel mitochondrial isoform
            of human rTS protein and unusual phylogenetic distribution of the
            rTS gene
  JOURNAL   BMC Genomics 6, 125 (2005)
   PUBMED   16162288
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5362)
  AUTHORS   Dolnick,B.J., Angelino,N.J., Dolnick,R. and Sufrin,J.R.
  TITLE     A novel function for the rTS gene
  JOURNAL   Cancer Biol Ther 2 (4), 364-369 (2003)
   PUBMED   14508106
REFERENCE   7  (bases 1 to 5362)
  AUTHORS   Chu,J. and Dolnick,B.J.
  TITLE     Natural antisense (rTSalpha) RNA induces site-specific cleavage of
            thymidylate synthase mRNA
  JOURNAL   Biochim Biophys Acta 1587 (2-3), 183-193 (2002)
   PUBMED   12084460
  REMARK    Review article
REFERENCE   8  (bases 1 to 5362)
  AUTHORS   Dolnick,B.J., Lu,K., Yin,M.B. and Rustum,Y.M.
  TITLE     Recent advances in the study of rTS proteins. rTS expression during
            growth and in response to thymidylate synthase inhibitors in human
            tumor cells
  JOURNAL   Adv Enzyme Regul 37, 95-109 (1997)
   PUBMED   9381988
REFERENCE   9  (bases 1 to 5362)
  AUTHORS   Dolnick,B.J. and Black,A.R.
  TITLE     Alternate splicing of the rTS gene product and its overexpression
            in a 5-fluorouracil-resistant cell line
  JOURNAL   Cancer Res 56 (14), 3207-3210 (1996)
   PUBMED   8764108
REFERENCE   10 (bases 1 to 5362)
  AUTHORS   Dolnick,B.J.
  TITLE     Cloning and characterization of a naturally occurring antisense RNA
            to human thymidylate synthase mRNA
  JOURNAL   Nucleic Acids Res 21 (8), 1747-1752 (1993)
   PUBMED   8493092
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001285.1 and AP001178.4.
            
            On Nov 22, 2018 this sequence version replaced NM_017512.6.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.31929.1,
                                           SRR5189658.169064.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 16162288
            MANE Ensembl match                 :: ENST00000647584.2/
                                                  ENSP00000497230.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1667              BC001285.1         33-1699
            1668-5362           AP001178.4         98004-101698        c
FEATURES             Location/Qualifiers
     source          1..5362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.32"
     gene            1..5362
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="enolase superfamily member 1"
                     /db_xref="GeneID:55556"
                     /db_xref="HGNC:HGNC:30365"
                     /db_xref="MIM:607427"
     exon            1..127
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..1375
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /EC_number="4.2.1.68"
                     /note="isoform rTSbeta is encoded by transcript variant 1;
                     antisense RNA to thymidylate synthase; mitochondrial
                     enolase superfamily member 1; L-fuconate dehydratase"
                     /codon_start=1
                     /product="mitochondrial enolase superfamily member 1
                     isoform rTSbeta"
                     /protein_id="NP_059982.2"
                     /db_xref="CCDS:CCDS11822.1"
                     /db_xref="GeneID:55556"
                     /db_xref="HGNC:HGNC:30365"
                     /db_xref="MIM:607427"
                     /translation="MVRGRISRLSVRDVRFPTSLGGHGADAMHTDPDYSAAYVVIETD
                     AEDGIKGCGITFTLGKGTEVVVCAVNALAHHVLNKDLKDIVGDFRGFYRQLTSDGQLR
                     WIGPEKGVVHLATAAVLNAVWDLWAKQEGKPVWKLLVDMDPRMLVSCIDFRYITDVLT
                     EEDALEILQKGQIGKKEREKQMLAQGYPAYTTSCAWLGYSDDTLKQLCAQALKDGWTR
                     FKVKVGADLQDDMRRCQIIRDMIGPEKTLMMDANQRWDVPEAVEWMSKLAKFKPLWIE
                     EPTSPDDILGHATISKALVPLGIGIATGEQCHNRVIFKQLLQAKALQFLQIDSCRLGS
                     VNENLSVLLMAKKFEIPVCPHAGGVGLCELVQHLIIFDYISVSASLENRVCEYVDHLH
                     EHFKYPVMIQRASYMPPKDPGYSTEMKEESVKKHQYPDGEVWKKLLPAQEN"
     exon            128..236
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            237..352
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            353..439
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            440..466
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            467..539
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            540..578
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            579..661
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            662..696
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            697..784
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            785..919
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            920..961
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1091
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1191
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1273
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..5362
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1657..1662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="hexamer: ATTAAA"
     polyA_site      1679
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="major polyA site"
     regulatory      1746..1751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="hexamer: AATAAA"
     polyA_site      1766
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
     regulatory      3102..3107
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="hexamer: ATTAAA"
     polyA_site      3131
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
     regulatory      4302..4307
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="hexamer: TATAAA"
     polyA_site      4326
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
     regulatory      5284..5289
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="hexamer: AATAAT"
     polyA_site      5307
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
     regulatory      5334..5339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
                     /note="hexamer: ATTAAA"
     polyA_site      5362
                     /gene="ENOSF1"
                     /gene_synonym="FUCD; RTS; TYMSAS"
ORIGIN      
        1 agtcctgacc gcacgggggc cgcggccacg gggcgcaggg gccatggtgc gcggcaggat
       61 ctcccggctc tcggtccggg acgtgcgctt ccccacgtcg cttgggggcc acggcgcgga
      121 cgccatgcac acggaccctg actactcggc tgcctatgtc gtcatagaaa ctgatgcaga
      181 agatggaatc aaggggtgtg gaattacctt cactctggga aaaggcactg aagttgttgt
      241 ctgtgctgtg aatgccctcg cccaccatgt gctcaacaag gacctcaagg acattgttgg
      301 tgacttcaga ggcttctata ggcagctcac aagtgatggg cagctcagat ggattggtcc
      361 agaaaagggc gtggtgcacc tggcgacagc ggccgtccta aacgcggtgt gggacttgtg
      421 ggccaagcag gagggaaagc ctgtctggaa gttacttgtg gacatggatc ccaggatgct
      481 ggtatcctgc atagatttca ggtacatcac tgatgtcctg actgaggagg atgccctaga
      541 aatactgcag aaaggtcaaa ttggtaaaaa agaaagagag aagcaaatgc tggcacaagg
      601 ataccctgct tacacgacat cgtgcgcctg gctggggtac tcagatgaca cgttgaagca
      661 gctctgtgcc caggcgctga aggatggctg gaccaggttt aaagtaaagg tgggtgctga
      721 tctccaggat gacatgcgaa gatgccaaat catccgagac atgattggac cggaaaagac
      781 tttgatgatg gatgccaacc agcgctggga tgtgcctgag gcggtggagt ggatgtccaa
      841 gctggccaag ttcaagccat tgtggattga ggagccaacc tcccctgatg acattctggg
      901 gcacgccacc atttccaagg cactggtccc attaggaatt ggcattgcca caggagaaca
      961 gtgccacaat agagtgatat ttaagcaact cctacaggcg aaggccctgc agttcctcca
     1021 gattgacagt tgcagactgg gcagtgtcaa tgagaacctc tcagtattgc tgatggccaa
     1081 aaagtttgaa attcctgttt gcccccatgc tggtggagtt ggcctctgtg aactggtgca
     1141 gcacctgatt atatttgact acatatcagt ttctgcaagc cttgaaaata gggtgtgtga
     1201 gtatgttgac cacctgcatg agcatttcaa gtatcccgtg atgatccagc gggcttccta
     1261 catgcctccc aaggatcccg gctactcaac agaaatgaag gaggaatctg taaagaaaca
     1321 ccagtatcca gatggtgaag tttggaagaa actccttcct gctcaagaaa attaagtgct
     1381 cagccccaac aacttttttc tttctgaagt gaaagggctt aaaatttctt ggaaatagtt
     1441 ttacaaaaat ggatttaaaa aatcctaccg atcaagatga gttcagctag aagtcatacc
     1501 accctcagga atcagctaag taattattac ttgattcttt tagcaaatca atgcacgtta
     1561 tcctacttaa tccttaaata agtttagatt taactaaccc aaagtccagg aggatgttct
     1621 tacaaaaata gctatatcaa gggctggcac ctagacatta aactgtaatt tgaaaataag
     1681 caacatgttg cataacttgt tggaataatt ccttgttctg tttaacactt gtcataaatt
     1741 agcagaataa aaatagtcgt gcaacaccgg gggtatctgg tatgcaacga agggaaaaat
     1801 atttcactga ttaaccccga agtggttttg catcttttcc ttgcttaatc taagcatatt
     1861 attagagaag tcacaccatg ctgaagctaa tgagggcaaa atggtagtcc atagattatt
     1921 ttaaaataac cctttaaggt tataaaagtt taaaaaaaaa aaaaaaaaac tctatcctaa
     1981 atggtcatta tattttgagg ataagatgca gttaaaatga gaaaaatagg gcaaaatata
     2041 ttcactatta tttctaaaat atactctttt aagtagcatc caaaccagaa tacagcacat
     2101 gtttacttaa ggagagttct ttaatctatt ttaggaagga actgagcaga taagtggcag
     2161 tacagaatga acaaagcgtg gacgaatgca gaacacttct ttattatagc aacatataaa
     2221 acaactataa ctttaaagtt cataaccaca ctctacatca tgatcgatgg tgttactcag
     2281 ctccctcaga tttgagggaa tagcttgtga aattcttaaa atattctaaa aatattccaa
     2341 aaatagcttg tgaaattcac caaccttctt tataagtacg tgggattgaa atgcacatac
     2401 atgtttttgc taagagcaca tacatttcat tctcctcact ttgttcataa cctcagcatt
     2461 gtcagatacc ctcagtgagt taactcaaag ccttttatta tggaaagaac tggcacagtt
     2521 acatttgcca gtggcaacat ccttaaaaat taataactga taggtcacgg acagattttt
     2581 gacctagttc ctttttcttt tagagcaaaa agaactttta cctcggcatc cagcccaacc
     2641 cctaaagact gacaatatcc ttcgagctcc tttgaaagca ccctaaacag ccatttccat
     2701 tttaatagtt ggatgcggat tgtacccttc aatctgaaag tcttcagctt tgaagtcatc
     2761 aattttctca acttttcgaa gaatcctgag ctttgggaaa ggtctgggtt ctcgctgaag
     2821 ctaaaaacaa aataaggcca ttattttgcc ataattgtac gacctgttgt aattgctcct
     2881 catgtccgtg aaacaagtac acaggatgtg atcaacaaag ttctatttta caggagtatg
     2941 atcctgtcga taccttgccg taggttatgt aacatgattg gagcgcaacc agctgttctc
     3001 ttgcacagat cgagagtgag gggtattttg tgacattaca cagcatcagg agcctggtgc
     3061 ctcatcaggt gtaagttctt ataaccactc ttggcaaatt tattaaagac aggaacacag
     3121 tcaatctgta actcatagta gctctacgtt tacttgaatt ccacaatccc taacccatct
     3181 gtccctggca gaaagaagga aagatgacat gcatggacag tgaacagaaa gggatgaaag
     3241 ccaggattcc tgggatgaac agacagtggc aattaggatg tgaagacagg tcacaaccta
     3301 ttactatgtc taaaaacgac cagagcagag agccagagag aataagcctg aagtcacctc
     3361 cactcaaaag cagccaaact ccctcaaagg agtaactttt aaaacctgga tctaacctgg
     3421 aaggggctaa aaagtgtctg gttctgagtt tttttcctta aggctcatga agcagatgaa
     3481 cttacatttt tattgccatt tcatatcaat tgttggctgc tataacttag ggatttcaac
     3541 agacttttga agtttggacc taaatattgt acttaatgta aaattaacaa aaaatattta
     3601 tggccagggt ggtggcttat gcctgtaatt ccagaatttt cggaggctga ggcaggtgga
     3661 tcacttgaag tcaggagttt gagactagcc tggccaacat gatgaaaccc catctctact
     3721 aataatacaa aaattagctg ggtgtggtgg catgtgcctg taatcccagc tacctgggag
     3781 gctgaggcag aagaattgct tgaacccggg aggtggaggt tgcagtgagc tgagatcgca
     3841 ccacggcaca ctccagcctg gccgacagag aaagactcca tctcaaaaaa aaaagaaaag
     3901 gaaaaacatt tgcacttcaa ttctccttca agttaaaatg agttaaaatg cccccttttg
     3961 gacaatcccc tggcttgaat gtggctcttc cctctctggt actggtgctt agtacctcac
     4021 agcacctgac atgttaagtg cccatggttg ctgaggcaga tgcctgcctt gtcctgccca
     4081 cctgcccacc acttctccct aaactgaagc cccacatttg gagcagtcat ctttatcttg
     4141 gacacagcat tgagcagatg cctgttccac agtcaacctt ttatcaagag aaggtaccaa
     4201 acccaaaagt ataacatcta attcttacct gaattttcag tggctcgatg tgattcaggt
     4261 aaatatgtgc atctcccaaa gtgtgtataa agtcacctgg ctataaaccc gggggagaaa
     4321 gcagaacagt atgttagttt caattcttta aaacatcatt taaaaacatt agaatatgca
     4381 gacaccgcaa ggcttttttt aaaaaaataa tttagtgtag cttttccatt tttttgtagc
     4441 aacagcatct tgttatgttg cccaggctgg tattgaactc cagacctcaa gcaattgctc
     4501 ctgtctcagt ctcccaaagt gctgggatta caggcatgag ccaccatacc caacctcagc
     4561 atagcttttg agaaaatcca tagaagctgt atcacaaaca acctgtatag atctgttagt
     4621 gcgtatacca cagggccaga aaaccttcca gaagaggaag gtttcaaagt aaaagctggt
     4681 tcatttctta cttacacata tcaaatttaa aagctaatca gagactaaac tctgcaattt
     4741 gttttcccat attaaagaac tgaagagctc agtgtggtag gctggcaagt cacccttccc
     4801 gagacagccc accttcaggc ccgtgatgtg cgcaatcatg tacgtgagca gggcgtagct
     4861 ggcgatgttg aaaggcacac cgaggcccat gtctcccgat ctctggtaca gctggcagga
     4921 cagctcactg ttcaccacat agaactggca gagggcatgg catggaggca gcgccatcag
     4981 aggaagatct gaggaaccag cagaggaaga taaggaggga tggtggtttg aaagaccaca
     5041 gctaaaggca aagtaaaaca ggagagaaac agaagccaac tcatatggtg gagaccagga
     5101 gagagagcca ctgggctgca gtgatgtcca taacagcctc tgcagcgatg gcacggagct
     5161 gagggagact atccatcggt gcaaggtttc tgcaggtgtc catttacggc tgaagcaatg
     5221 ctcttccatc agagctgaag ggatctgggc tacctcgtgg caccagatta caaatacagc
     5281 aggaataatt ctgtttgcca caggaaactg gtgcttctgg tacaccctcc tatattaaaa
     5341 gtctctatta catggccagg ca
//
