TGDS_HUMAN
ID TGDS_HUMAN Reviewed; 350 AA.
AC O95455; Q05DQ3; Q2TU31; Q5T3Z2; Q9H1T9;
DT 23-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=dTDP-D-glucose 4,6-dehydratase;
DE EC=4.2.1.46;
GN Name=TGDS;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Sturla L., Bisso A., Zanardi D., De Flora A., Tonetti M.;
RT "Identification of dTDP-D-glucose 4,6 dehydratase in human cells.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Seppala R., Lehto V.-P., Gahl W.A.;
RT "Similar to Haemophilus influenzae dTDP-glucose 4,6-dehydratase.";
RL Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pericardium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W.;
RT "Identification of a human cell growth inhibition gene.";
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Urinary bladder;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP VARIANTS CATMANS GLY-90; LEU-98; SER-100; HIS-234 AND ASP-298.
RX PubMed=25480037; DOI=10.1016/j.ajhg.2014.11.004;
RA Ehmke N., Caliebe A., Koenig R., Kant S.G., Stark Z., Cormier-Daire V.,
RA Wieczorek D., Gillessen-Kaesbach G., Hoff K., Kawalia A., Thiele H.,
RA Altmueller J., Fischer-Zirnsak B., Knaus A., Zhu N., Heinrich V., Huber C.,
RA Harabula I., Spielmann M., Horn D., Kornak U., Hecht J., Krawitz P.M.,
RA Nuernberg P., Siebert R., Manzke H., Mundlos S.;
RT "Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke
RT syndrome.";
RL Am. J. Hum. Genet. 95:763-770(2014).
CC -!- CATALYTIC ACTIVITY:
CC Reaction=dTDP-alpha-D-glucose = dTDP-4-dehydro-6-deoxy-alpha-D-glucose
CC + H2O; Xref=Rhea:RHEA:17221, ChEBI:CHEBI:15377, ChEBI:CHEBI:57477,
CC ChEBI:CHEBI:57649; EC=4.2.1.46;
CC -!- COFACTOR:
CC Name=NAD(+); Xref=ChEBI:CHEBI:57540; Evidence={ECO:0000250};
CC -!- INTERACTION:
CC O95455; P42858: HTT; NbExp=3; IntAct=EBI-1761487, EBI-466029;
CC -!- DISEASE: Catel-Manzke syndrome (CATMANS) [MIM:616145]: A syndrome
CC characterized by Pierre Robin sequence and a unique form of bilateral
CC hyperphalangy causing a clinodactyly of the index finger. Pierre Robin
CC sequence includes an opening in the roof of the mouth (a cleft palate),
CC a large tongue (macroglossia), and a small lower jaw (micrognathia).
CC {ECO:0000269|PubMed:25480037}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the NAD(P)-dependent epimerase/dehydratase
CC family. dTDP-glucose dehydratase subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH05284.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AJ006068; CAA06840.1; -; mRNA.
DR EMBL; AF048686; AAD50061.1; -; mRNA.
DR EMBL; AK313251; BAG36061.1; -; mRNA.
DR EMBL; AY544125; AAT11156.1; -; mRNA.
DR EMBL; AL139318; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359708; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471085; EAX08940.1; -; Genomic_DNA.
DR EMBL; CH471085; EAX08941.1; -; Genomic_DNA.
DR EMBL; BC005284; AAH05284.1; ALT_SEQ; mRNA.
DR EMBL; BC033675; AAH33675.1; -; mRNA.
DR CCDS; CCDS9471.1; -.
DR RefSeq; NP_001291359.1; NM_001304430.1.
DR RefSeq; NP_055120.1; NM_014305.3.
DR AlphaFoldDB; O95455; -.
DR SMR; O95455; -.
DR BioGRID; 117041; 8.
DR IntAct; O95455; 7.
DR STRING; 9606.ENSP00000261296; -.
DR iPTMnet; O95455; -.
DR PhosphoSitePlus; O95455; -.
DR BioMuta; TGDS; -.
DR EPD; O95455; -.
DR MassIVE; O95455; -.
DR PaxDb; O95455; -.
DR PeptideAtlas; O95455; -.
DR PRIDE; O95455; -.
DR ProteomicsDB; 50889; -.
DR Antibodypedia; 24784; 103 antibodies from 19 providers.
DR DNASU; 23483; -.
DR Ensembl; ENST00000261296.7; ENSP00000261296.5; ENSG00000088451.11.
DR GeneID; 23483; -.
DR KEGG; hsa:23483; -.
DR MANE-Select; ENST00000261296.7; ENSP00000261296.5; NM_014305.4; NP_055120.1.
DR UCSC; uc001vlw.4; human.
DR CTD; 23483; -.
DR DisGeNET; 23483; -.
DR GeneCards; TGDS; -.
DR HGNC; HGNC:20324; TGDS.
DR HPA; ENSG00000088451; Low tissue specificity.
DR MalaCards; TGDS; -.
DR MIM; 616145; phenotype.
DR MIM; 616146; gene.
DR neXtProt; NX_O95455; -.
DR OpenTargets; ENSG00000088451; -.
DR Orphanet; 1388; Catel-Manzke syndrome.
DR PharmGKB; PA128395791; -.
DR VEuPathDB; HostDB:ENSG00000088451; -.
DR eggNOG; KOG0747; Eukaryota.
DR GeneTree; ENSGT00940000159196; -.
DR HOGENOM; CLU_007383_1_14_1; -.
DR InParanoid; O95455; -.
DR OMA; KLIPLMC; -.
DR OrthoDB; 815803at2759; -.
DR PhylomeDB; O95455; -.
DR TreeFam; TF313892; -.
DR PathwayCommons; O95455; -.
DR SignaLink; O95455; -.
DR BioGRID-ORCS; 23483; 15 hits in 1080 CRISPR screens.
DR ChiTaRS; TGDS; human.
DR GenomeRNAi; 23483; -.
DR Pharos; O95455; Tbio.
DR PRO; PR:O95455; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; O95455; protein.
DR Bgee; ENSG00000088451; Expressed in right lobe of liver and 183 other tissues.
DR Genevisible; O95455; HS.
DR GO; GO:0008460; F:dTDP-glucose 4,6-dehydratase activity; IBA:GO_Central.
DR GO; GO:0009225; P:nucleotide-sugar metabolic process; IEA:InterPro.
DR CDD; cd05246; dTDP_GD_SDR_e; 1.
DR InterPro; IPR005888; dTDP_Gluc_deHydtase.
DR InterPro; IPR016040; NAD(P)-bd_dom.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR Pfam; PF16363; GDP_Man_Dehyd; 1.
DR SUPFAM; SSF51735; SSF51735; 1.
PE 1: Evidence at protein level;
KW Disease variant; Lyase; NAD; Reference proteome.
FT CHAIN 1..350
FT /note="dTDP-D-glucose 4,6-dehydratase"
FT /id="PRO_0000183250"
FT ACT_SITE 143
FT /note="Proton donor"
FT /evidence="ECO:0000250"
FT ACT_SITE 144
FT /note="Proton acceptor"
FT /evidence="ECO:0000250"
FT ACT_SITE 166
FT /note="Proton acceptor"
FT /evidence="ECO:0000250"
FT BINDING 142
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT VARIANT 15
FT /note="G -> S (in dbSNP:rs34991132)"
FT /id="VAR_049122"
FT VARIANT 90
FT /note="E -> G (in CATMANS; dbSNP:rs724160004)"
FT /evidence="ECO:0000269|PubMed:25480037"
FT /id="VAR_072682"
FT VARIANT 98
FT /note="F -> L (in CATMANS; dbSNP:rs727502808)"
FT /evidence="ECO:0000269|PubMed:25480037"
FT /id="VAR_072683"
FT VARIANT 100
FT /note="A -> S (in CATMANS; dbSNP:rs140430952)"
FT /evidence="ECO:0000269|PubMed:25480037"
FT /id="VAR_072684"
FT VARIANT 234
FT /note="Y -> H (in CATMANS; dbSNP:rs544436734)"
FT /evidence="ECO:0000269|PubMed:25480037"
FT /id="VAR_072685"
FT VARIANT 298
FT /note="N -> D (in CATMANS; dbSNP:rs724160005)"
FT /evidence="ECO:0000269|PubMed:25480037"
FT /id="VAR_072686"
SQ SEQUENCE 350 AA; 40214 MW; EE427AD1D91EA43D CRC64;
MSAACWEEPW GLPGGFAKRV LVTGGAGFIA SHMIVSLVED YPNYMIINLD KLDYCASLKN
LETISNKQNY KFIQGDICDS HFVKLLFETE KIDIVLHFAA QTHVDLSFVR AFEFTYVNVY
GTHVLVSAAH EARVEKFIYV STDEVYGGSL DKEFDESSPK QPTNPYASSK AAAECFVQSY
WEQYKFPVVI TRSSNVYGPH QYPEKVIPKF ISLLQHNRKC CIHGSGLQTR NFLYATDVVE
AFLTVLKKGK PGEIYNIGTN FEMSVVQLAK ELIQLIKETN SESEMENWVD YVNDRPTNDM
RYPMKSEKIH GLGWRPKVPW KEGIKKTIEW YRENFHNWKN VEKALEPFPV
