LOCUS       NM_001953               1586 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2,
            mRNA.
ACCESSION   NM_001953
VERSION     NM_001953.5
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 1586)
  AUTHORS   Du,J., Zhang,C., Liu,F., Liu,X., Wang,D., Zhao,D., Shui,G., Zhao,Y.
            and Yan,C.
  TITLE     Distinctive metabolic remodeling in TYMP deficiency beyond
            mitochondrial dysfunction
  JOURNAL   J Mol Med (Berl) 101 (10), 1237-1253 (2023)
   PUBMED   37603049
  REMARK    GeneRIF: Distinctive metabolic remodeling in TYMP deficiency beyond
            mitochondrial dysfunction.
REFERENCE   2  (bases 1 to 1586)
  AUTHORS   Chen,S.A., Zhang,J.P., Wang,N. and Chen,J.
  TITLE     Identifying TYMP as an Immune Prognostic Marker in Clear Cell Renal
            Cell Carcinoma
  JOURNAL   Technol Cancer Res Treat 22, 15330338231194555 (2023)
   PUBMED   38043946
  REMARK    GeneRIF: Identifying TYMP as an Immune Prognostic Marker in Clear
            Cell Renal Cell Carcinoma.
REFERENCE   3  (bases 1 to 1586)
  AUTHORS   Kaidi,D., Szeponik,L., Yrlid,U., Wettergren,Y. and Bexe Lindskog,E.
  TITLE     Impact of thymidine phosphorylase and CD163 expression on prognosis
            in stage II colorectal cancer
  JOURNAL   Clin Transl Oncol 24 (9), 1818-1827 (2022)
   PUBMED   35567733
  REMARK    GeneRIF: Impact of thymidine phosphorylase and CD163 expression on
            prognosis in stage II colorectal cancer.
REFERENCE   4  (bases 1 to 1586)
  AUTHORS   Gautheron,J., Lima,L., Akinci,B., Zammouri,J., Auclair,M.,
            Ucar,S.K., Ozen,S., Altay,C., Bax,B.E., Nemazanyy,I., Lenoir,V.,
            Prip-Buus,C., Acquaviva-Bourdain,C., Lascols,O., Feve,B.,
            Vigouroux,C., Noel,E. and Jeru,I.
  TITLE     Loss of thymidine phosphorylase activity disrupts adipocyte
            differentiation and induces insulin-resistant lipoatrophic diabetes
  JOURNAL   BMC Med 20 (1), 95 (2022)
   PUBMED   35341481
  REMARK    GeneRIF: Loss of thymidine phosphorylase activity disrupts
            adipocyte differentiation and induces insulin-resistant
            lipoatrophic diabetes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1586)
  AUTHORS   Mojtabavi,H., Fatehi,F., Shahkarami,S., Rezaei,N. and Nafissi,S.
  TITLE     Novel Mutations of the TYMP Gene in Mitochondrial
            Neurogastrointestinal Encephalomyopathy: Case Series and Literature
            Review
  JOURNAL   J Mol Neurosci 71 (12), 2526-2533 (2021)
   PUBMED   33825174
  REMARK    GeneRIF: Novel Mutations of the TYMP Gene in Mitochondrial
            Neurogastrointestinal Encephalomyopathy: Case Series and Literature
            Review.
            Review article
REFERENCE   6  (bases 1 to 1586)
  AUTHORS   Hirano,M.
  TITLE     Mitochondrial Neurogastrointestinal Encephalopathy Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301358
REFERENCE   7  (bases 1 to 1586)
  AUTHORS   Asai,K., Nakanishi,K., Isobe,I., Eksioglu,Y.Z., Hirano,A., Hama,K.,
            Miyamoto,T. and Kato,T.
  TITLE     Neurotrophic action of gliostatin on cortical neurons. Identity of
            gliostatin and platelet-derived endothelial cell growth factor
  JOURNAL   J Biol Chem 267 (28), 20311-20316 (1992)
   PUBMED   1400349
REFERENCE   8  (bases 1 to 1586)
  AUTHORS   Usuki,K., Saras,J., Waltenberger,J., Miyazono,K., Pierce,G.,
            Thomason,A. and Heldin,C.H.
  TITLE     Platelet-derived endothelial cell growth factor has thymidine
            phosphorylase activity
  JOURNAL   Biochem Biophys Res Commun 184 (3), 1311-1316 (1992)
   PUBMED   1590793
REFERENCE   9  (bases 1 to 1586)
  AUTHORS   Furukawa,T., Yoshimura,A., Sumizawa,T., Haraguchi,M., Akiyama,S.,
            Fukui,K., Ishizawa,M. and Yamada,Y.
  TITLE     Angiogenic factor
  JOURNAL   Nature 356 (6371), 668 (1992)
   PUBMED   1570012
REFERENCE   10 (bases 1 to 1586)
  AUTHORS   Stenman,G., Sahlin,P., Dumanski,J.P., Hagiwara,K., Ishikawa,F.,
            Miyazono,K., Collins,V.P. and Heldin,C.H.
  TITLE     Regional localization of the human platelet-derived endothelial
            cell growth factor (ECGF1) gene to chromosome 22q13
  JOURNAL   Cytogenet Cell Genet 59 (1), 22-23 (1992)
   PUBMED   1733667
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U62317.2, BC018160.1,
            BC052211.2 and BM744178.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001953.4.
            
            Summary: This gene encodes an angiogenic factor which promotes
            angiogenesis in vivo and stimulates the in vitro growth of a
            variety of endothelial cells. It has a highly restricted target
            cell specificity acting only on endothelial cells. Mutations in
            this gene have been associated with mitochondrial
            neurogastrointestinal encephalomyopathy. Multiple alternatively
            spliced transcript variants have been identified. [provided by
            RefSeq, Apr 2012].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode
            the same isoform (1).
            
            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 :: BC018160.1, SRR7346977.97705.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000252029.8/
                                                  ENSP00000252029.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                U62317.2           110442-110457
            17-703              BC018160.1         1-687
            704-1530            BC052211.2         726-1552
            1531-1586           BM744178.1         346-401
FEATURES             Location/Qualifiers
     source          1..1586
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..1586
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /note="thymidine phosphorylase"
                     /db_xref="GeneID:1890"
                     /db_xref="HGNC:HGNC:3148"
                     /db_xref="MIM:131222"
     exon            1..109
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            110..333
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..1568
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /EC_number="2.4.2.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; gliostatin; tdRPase"
                     /codon_start=1
                     /product="thymidine phosphorylase isoform 1 precursor"
                     /protein_id="NP_001944.1"
                     /db_xref="CCDS:CCDS14096.1"
                     /db_xref="GeneID:1890"
                     /db_xref="HGNC:HGNC:3148"
                     /db_xref="MIM:131222"
                     /translation="MAALMTPGTGAPPAPGDFSGEGSQGLPDPSPEPKQLPELIRMKR
                     DGGRLSEADIRGFVAAVVNGSAQGAQIGAMLMAIRLRGMDLEETSVLTQALAQSGQQL
                     EWPEAWRQQLVDKHSTGGVGDKVSLVLAPALAACGCKVPMISGRGLGHTGGTLDKLES
                     IPGFNVIQSPEQMQVLLDQAGCCIVGQSEQLVPADGILYAARDVTATVDSLPLITASI
                     LSKKLVEGLSALVVDVKFGGAAVFPNQEQARELAKTLVGVGASLGLRVAAALTAMDKP
                     LGRCVGHALEVEEALLCMDGAGPPDLRDLVTTLGGALLWLSGHAGTQAQGAARVAAAL
                     DDGSALGRFERMLAAQGVDPGLARALCSGSPAERRQLLPRAREQEELLAPADGTVELV
                     RALPLALVLHELGAGRSRAGEPLRLGVGAELLVDVGQRLRRGTPWLRVHRDGPALSGP
                     QSRALQEALVLSDRAPFAAPSPFAELVLPPQQ"
     exon            334..536
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            537..635
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            636..765
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            766..884
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            885..1047
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1278
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1419
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1586
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1564..1569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /note="hexamer: AATAAA"
     polyA_site      1586
                     /gene="TYMP"
                     /gene_synonym="ECGF; ECGF1; hPD-ECGF; MEDPS1; MNGIE;
                     MTDPS1; PDECGF; TP"
                     /note="major polyA site"
ORIGIN      
        1 agtggaccgc tgtgcgcgaa ccctgaaccc tacggtcccg acccgcgggc gaggccgggt
       61 acctgggctg ggatccggag caagcgggcg agggcagcgc cctaagcagg cccggagcga
      121 tggcagcctt gatgaccccg ggaaccgggg ccccacccgc gcctggtgac ttctccgggg
      181 aagggagcca gggacttccc gacccttcgc cagagcccaa gcagctcccg gagctgatcc
      241 gcatgaagcg agacggaggc cgcctgagcg aagcggacat caggggcttc gtggccgctg
      301 tggtgaatgg gagcgcgcag ggcgcacaga tcggggccat gctgatggcc atccgacttc
      361 ggggcatgga tctggaggag acctcggtgc tgacccaggc cctggctcag tcgggacagc
      421 agctggagtg gccagaggcc tggcgccagc agcttgtgga caagcattcc acagggggtg
      481 tgggtgacaa ggtcagcctg gtcctcgcac ctgccctggc ggcatgtggc tgcaaggtgc
      541 caatgatcag cggacgtggt ctggggcaca caggaggcac cttggataag ctggagtcta
      601 ttcctggatt caatgtcatc cagagcccag agcagatgca agtgctgctg gaccaggcgg
      661 gctgctgtat cgtgggtcag agtgagcagc tggttcctgc ggacggaatc ctatatgcag
      721 ccagagatgt gacagccacc gtggacagcc tgccactcat cacagcctcc attctcagta
      781 agaaactcgt ggaggggctg tccgctctgg tggtggacgt taagttcgga ggggccgccg
      841 tcttccccaa ccaggagcag gcccgggagc tggcaaagac gctggttggc gtgggagcca
      901 gcctagggct tcgggtcgcg gcagcgctga ccgccatgga caagcccctg ggtcgctgcg
      961 tgggccacgc cctggaggtg gaggaggcgc tgctctgcat ggacggcgca ggcccgccag
     1021 acttaaggga cctggtcacc acgctcgggg gcgccctgct ctggctcagc ggacacgcgg
     1081 ggactcaggc ccagggcgct gcccgggtgg ccgcggcgct ggacgacggc tcggcccttg
     1141 gccgcttcga gcggatgctg gcggcgcagg gcgtggatcc cggtctggcc cgagccctgt
     1201 gctcgggaag tcccgcagaa cgccggcagc tgctgcctcg cgcccgggag caggaggagc
     1261 tgctggcgcc cgcagatggc accgtggagc tggtccgggc gctgccgctg gcgctggtgc
     1321 tgcacgagct cggggccggg cgcagccgcg ctggggagcc gctccgcctg ggggtgggcg
     1381 cagagctgct ggtcgacgtg ggtcagaggc tgcgccgtgg gaccccctgg ctccgcgtgc
     1441 accgggacgg ccccgcgctc agcggcccgc agagccgcgc cctgcaggag gcgctcgtac
     1501 tctccgaccg cgcgccattc gccgccccct cgcccttcgc agagctcgtt ctgccgccgc
     1561 agcaataaag ctcctttgcc gcgaaa
//
