LOCUS       NM_014305               1797 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), transcript variant
            1, mRNA.
ACCESSION   NM_014305
VERSION     NM_014305.4
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 1797)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1797)
  AUTHORS   Miller,D.E., Chow,P., Gallagher,E.R., Perkins,J.A. and Wenger,T.L.
  TITLE     Catel-Manzke syndrome without Manzke dysostosis
  JOURNAL   Am J Med Genet A 182 (3), 437-440 (2020)
   PUBMED   31833187
  REMARK    GeneRIF: Catel-Manzke syndrome without Manzke dysostosis.
REFERENCE   3  (bases 1 to 1797)
  AUTHORS   Boschann,F., Stuurman,K.E., de Bruin,C., van Slegtenhorst,M., van
            Duyvenvoorde,H.A., Kant,S.G. and Ehmke,N.
  TITLE     TGDS pathogenic variants cause Catel-Manzke syndrome without
            hyperphalangy
  JOURNAL   Am J Med Genet A 182 (3), 431-436 (2020)
   PUBMED   31769200
  REMARK    GeneRIF: TGDS pathogenic variants cause Catel-Manzke syndrome
            without hyperphalangy.
REFERENCE   4  (bases 1 to 1797)
  AUTHORS   Schoner,K., Bald,R., Horn,D., Rehder,H., Kornak,U. and Ehmke,N.
  TITLE     Mutations in TGDS associated with additional malformations of the
            middle fingers and halluces: Atypical Catel-Manzke syndrome in a
            fetus
  JOURNAL   Am J Med Genet A 173 (6), 1694-1697 (2017)
   PUBMED   28422407
  REMARK    GeneRIF: Our findings widen the phenotype spectrum caused by TGDS
            mutations and underline the phenotypic overlap with Temtamy
            preaxial brachydactyly syndrome. This improves our understanding of
            the prenatal development and the pathogenetic mechanism of
            Catel-Manzke syndrome.
REFERENCE   5  (bases 1 to 1797)
  AUTHORS   Ehmke,N., Caliebe,A., Koenig,R., Kant,S.G., Stark,Z.,
            Cormier-Daire,V., Wieczorek,D., Gillessen-Kaesbach,G., Hoff,K.,
            Kawalia,A., Thiele,H., Altmuller,J., Fischer-Zirnsak,B., Knaus,A.,
            Zhu,N., Heinrich,V., Huber,C., Harabula,I., Spielmann,M., Horn,D.,
            Kornak,U., Hecht,J., Krawitz,P.M., Nurnberg,P., Siebert,R.,
            Manzke,H. and Mundlos,S.
  TITLE     Homozygous and compound-heterozygous mutations in TGDS cause
            Catel-Manzke syndrome
  JOURNAL   Am J Hum Genet 95 (6), 763-770 (2014)
   PUBMED   25480037
  REMARK    GeneRIF: By using haplotype reconstruction we showed that the
            mutation c.298G>T is probably a founder mutation. Due to the
            spectrum of the amino acid changes, we suggest that loss of
            function in TGDS is the underlying mechanism of Catel-Manzke
            syndrome.
REFERENCE   6  (bases 1 to 1797)
  AUTHORS   Persson,B., Kallberg,Y., Bray,J.E., Bruford,E., Dellaporta,S.L.,
            Favia,A.D., Duarte,R.G., Jornvall,H., Kavanagh,K.L., Kedishvili,N.,
            Kisiela,M., Maser,E., Mindnich,R., Orchard,S., Penning,T.M.,
            Thornton,J.M., Adamski,J. and Oppermann,U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   7  (bases 1 to 1797)
  AUTHORS   Persson,B., Kallberg,Y., Oppermann,U. and Jornvall,H.
  TITLE     Coenzyme-based functional assignments of short-chain
            dehydrogenases/reductases (SDRs)
  JOURNAL   Chem Biol Interact 143-144, 271-278 (2003)
   PUBMED   12604213
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC033675.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014305.3.
            
            Summary: The protein encoded by this gene is a member of the
            short-chain dehydrogenases/reductases (SDR) superfamily, and is
            thought to contain a nicotinamide adenine dinucleotide (NAD)
            binding domain. This large SDR family of enzymes is involved in the
            metabolism of a variety of compounds, including prostaglandins,
            retinoids, lipids, steroid hormones, and xenobiotics. Mutations in
            this gene have been associated with Catel-Manzke syndrome, which is
            characterized by Pierre Robin sequence, and radial deviation of the
            index finger due to the presence of an accessory bone between the
            index finger and its proximal phalanx. Pierre Robin sequence is
            defined by an undersized jaw, backwards displacement of the tongue
            base that causes an obstruction of the airways, and can also be
            associated with a cleft palate. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jan 2015].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033675.1, SRR5189661.156557.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261296.7/ ENSP00000261296.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1797              BC033675.1         53-1849
FEATURES             Location/Qualifiers
     source          1..1797
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     gene            1..1797
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /note="TDP-glucose 4,6-dehydratase"
                     /db_xref="GeneID:23483"
                     /db_xref="HGNC:HGNC:20324"
                     /db_xref="MIM:616146"
     exon            1..102
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1069
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /EC_number="4.2.1.46"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dTDP-D-glucose 4,6-dehydratase; short chain
                     dehydrogenase/reductase family 2E, member 1;
                     growth-inhibiting protein 21"
                     /codon_start=1
                     /product="dTDP-D-glucose 4,6-dehydratase isoform 1"
                     /protein_id="NP_055120.1"
                     /db_xref="CCDS:CCDS9471.1"
                     /db_xref="GeneID:23483"
                     /db_xref="HGNC:HGNC:20324"
                     /db_xref="MIM:616146"
                     /translation="MSAACWEEPWGLPGGFAKRVLVTGGAGFIASHMIVSLVEDYPNY
                     MIINLDKLDYCASLKNLETISNKQNYKFIQGDICDSHFVKLLFETEKIDIVLHFAAQT
                     HVDLSFVRAFEFTYVNVYGTHVLVSAAHEARVEKFIYVSTDEVYGGSLDKEFDESSPK
                     QPTNPYASSKAAAECFVQSYWEQYKFPVVITRSSNVYGPHQYPEKVIPKFISLLQHNR
                     KCCIHGSGLQTRNFLYATDVVEAFLTVLKKGKPGEIYNIGTNFEMSVVQLAKELIQLI
                     KETNSESEMENWVDYVNDRPTNDMRYPMKSEKIHGLGWRPKVPWKEGIKKTIEWYREN
                     FHNWKNVEKALEPFPV"
     exon            103..169
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            170..238
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            239..329
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            330..472
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            473..571
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            572..631
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            632..675
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            676..841
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            842..900
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            901..998
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1797
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1776..1781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /note="hexamer: AATAAA"
     polyA_site      1797
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /note="major polyA site"
ORIGIN      
        1 actgctgagc tgggagatgt cggcggcgtg ttgggaggaa ccgtggggtc ttcccggcgg
       61 ctttgcgaag cgggtcctgg tgaccggcgg tgctggtttc attgcatcac atatgattgt
      121 ctctttagtg gaagattatc caaactatat gatcataaat ctagacaagc tggattactg
      181 tgcaagcttg aagaatcttg aaaccatttc taacaaacag aactacaaat ttatacaggg
      241 tgacatatgt gattctcact ttgtgaaact gctttttgaa acagagaaaa tagatatagt
      301 actacatttt gccgcacaaa cacatgtaga tctttcattc gtacgtgcct ttgagtttac
      361 ctatgttaat gtttatggca ctcacgtttt ggtaagtgct gctcatgaag ccagagtgga
      421 gaagtttatt tatgtcagca cagatgaagt atatggtggc agtcttgata aggaatttga
      481 tgaatcttca cccaaacaac ctacaaatcc ttatgcatca tctaaagcag ctgctgaatg
      541 ttttgtacag tcttactggg aacaatataa gtttccagtt gtcatcacaa gaagcagtaa
      601 tgtttatgga ccacatcaat atccagaaaa ggttattcca aaatttatat ctttgctaca
      661 gcacaacagg aaatgttgca ttcatgggtc agggcttcaa acaagaaact tcctttatgc
      721 tactgatgtt gtagaagcat ttctcactgt cctcaaaaaa gggaaaccag gtgaaattta
      781 taacatcgga accaattttg aaatgtcagt tgtccagctt gccaaagaac taatacaact
      841 gatcaaagag accaattcag agtctgaaat ggaaaattgg gttgattatg ttaatgatag
      901 acccaccaat gacatgagat acccaatgaa gtcagaaaaa atacatggct taggatggag
      961 acctaaagtg ccttggaaag aaggaataaa gaaaacaatt gaatggtaca gagagaattt
     1021 tcacaactgg aagaatgtgg aaaaggcatt agaacccttt ccggtataat caccatttat
     1081 atagtcgaga cagttgtcaa agaagaaagt tatcctacct cgccaagtgg tatgaaatta
     1141 agtgaccaaa tgaagtgcac tcttttcttt tggaattaga ttcatgactt tctgtataaa
     1201 attcaaatgc agaatgcctc aatctttggg agagtttcag tactggcata gaatttaaat
     1261 gtcaaaattc tttctgaaac cctttctcct agaaactagg aaataatagg tgtagaagac
     1321 tctccctaag ggtagccagg aagaagtctc ctgattcgga caaccatgag gggtagtggt
     1381 gctagggaga aggcaacctt cactggtttt gaactcagtg cctaagaaag tctctgaaat
     1441 gttcgttttt aggcaatata ggatgtctta ggccctaatt caccatttct tttttaagat
     1501 ctgatatgct atcattgcct taataatgga acaaaataga agcatatcta acacttttta
     1561 aattgataat tttgtaaaat tgattacgtt gaatgctttt taagagaagt gtgtaaagtt
     1621 tttatatttt cacaattaac gtatgtaaaa ccttgtatca gaaatttatc atgtttactg
     1681 tttaaaatga ttgtatttat aaaattgtca atatcttaat gtatttaatg tagaatattg
     1741 ctttttaaaa taatgttttt attttgctgt agaaaaataa aaaaaaattt gattata
//
