LOCUS       NP_055120                350 aa            linear   PRI 27-APR-2025
DEFINITION  dTDP-D-glucose 4,6-dehydratase isoform 1 [Homo sapiens].
ACCESSION   NP_055120
VERSION     NP_055120.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 350)
  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  (residues 1 to 350)
  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  (residues 1 to 350)
  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  (residues 1 to 350)
  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  (residues 1 to 350)
  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  (residues 1 to 350)
  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  (residues 1 to 350)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..350
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.1"
     Protein         1..350
                     /product="dTDP-D-glucose 4,6-dehydratase isoform 1"
                     /EC_number="4.2.1.46"
                     /note="dTDP-D-glucose 4,6-dehydratase; short chain
                     dehydrogenase/reductase family 2E, member 1;
                     growth-inhibiting protein 21"
                     /calculated_mol_wt=40083
     Region          18..336
                     /region_name="dTDP_GD_SDR_e"
                     /note="dTDP-D-glucose 4,6-dehydratase, extended (e) SDRs;
                     cd05246"
                     /db_xref="CDD:187557"
     Site            order(24,26..29,50..53,55..56,75..77,98..100,102,117,
                     140..142,166,170,193..196)
                     /site_type="other"
                     /note="NAD binding site [chemical binding]"
                     /db_xref="CDD:187557"
     Site            order(102..104,142..144,166,193..195,204..206,209..210,
                     221..223,228,230,265,295,298,302)
                     /site_type="other"
                     /note="substrate binding site [chemical binding]"
                     /db_xref="CDD:187557"
     Site            order(106,108,111..112,115,119..120,123,127,130,148,157,
                     159..160,162..165,168,171..172,175..176,179..180,182..184,
                     299)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:187557"
     Site            order(118,142,166,170)
                     /site_type="active"
                     /db_xref="CDD:187557"
     CDS             1..350
                     /gene="TGDS"
                     /gene_synonym="CATMANS; SDR2E1; TDPGD"
                     /coded_by="NM_014305.4:17..1069"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9471.1"
                     /db_xref="GeneID:23483"
                     /db_xref="HGNC:HGNC:20324"
                     /db_xref="MIM:616146"
ORIGIN      
        1 msaacweepw glpggfakrv lvtggagfia shmivslved ypnymiinld kldycaslkn
       61 letisnkqny kfiqgdicds hfvkllfete kidivlhfaa qthvdlsfvr afeftyvnvy
      121 gthvlvsaah earvekfiyv stdevyggsl dkefdesspk qptnpyassk aaaecfvqsy
      181 weqykfpvvi trssnvygph qypekvipkf isllqhnrkc cihgsglqtr nflyatdvve
      241 afltvlkkgk pgeiynigtn femsvvqlak eliqliketn sesemenwvd yvndrptndm
      301 rypmksekih glgwrpkvpw kegikktiew yrenfhnwkn vekalepfpv
//
