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Protein

dTDP-D-glucose 4,6-dehydratase

Gene

TGDS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

dTDP-alpha-D-glucose = dTDP-4-dehydro-6-deoxy-alpha-D-glucose + H2O.

Cofactori

NAD(+)By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei142 – 1421SubstrateBy similarity
Active sitei143 – 1431Proton donorBy similarity
Active sitei144 – 1441Proton acceptorBy similarity
Active sitei166 – 1661Proton acceptorBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Ligandi

NAD

Names & Taxonomyi

Protein namesi
Recommended name:
dTDP-D-glucose 4,6-dehydratase (EC:4.2.1.46)
Gene namesi
Name:TGDS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:20324. TGDS.

Pathology & Biotechi

Involvement in diseasei

Catel-Manzke syndrome (CATMANS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia).

See also OMIM:616145
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901E → G in CATMANS. 1 Publication
VAR_072682
Natural varianti98 – 981F → L in CATMANS. 1 Publication
VAR_072683
Natural varianti100 – 1001A → S in CATMANS. 1 Publication
VAR_072684
Natural varianti234 – 2341Y → H in CATMANS. 1 Publication
VAR_072685
Natural varianti298 – 2981N → D in CATMANS. 1 Publication
VAR_072686

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616145. phenotype.
PharmGKBiPA128395791.

Polymorphism and mutation databases

BioMutaiTGDS.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 350350dTDP-D-glucose 4,6-dehydratasePRO_0000183250Add
BLAST

Proteomic databases

MaxQBiO95455.
PaxDbiO95455.
PRIDEiO95455.

PTM databases

PhosphoSiteiO95455.

Expressioni

Gene expression databases

BgeeiO95455.
CleanExiHS_TGDS.
GenevisibleiO95455. HS.

Organism-specific databases

HPAiHPA039927.
HPA040857.

Interactioni

Protein-protein interaction databases

BioGridi117041. 3 interactions.
IntActiO95455. 2 interactions.
STRINGi9606.ENSP00000261296.

Structurei

3D structure databases

ProteinModelPortaliO95455.
SMRiO95455. Positions 19-339.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1088.
GeneTreeiENSGT00530000063128.
HOGENOMiHOG000168006.
HOVERGENiHBG007741.
InParanoidiO95455.
KOiK01710.
OMAiGFIASHM.
OrthoDBiEOG7NKKKR.
PhylomeDBiO95455.
TreeFamiTF313892.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR005888. dTDP_Gluc_deHydtase.
IPR001509. Epimerase_deHydtase_N.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PANTHERiPTHR10366:SF41. PTHR10366:SF41. 1 hit.
PfamiPF01370. Epimerase. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O95455-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAACWEEPW GLPGGFAKRV LVTGGAGFIA SHMIVSLVED YPNYMIINLD
60 70 80 90 100
KLDYCASLKN LETISNKQNY KFIQGDICDS HFVKLLFETE KIDIVLHFAA
110 120 130 140 150
QTHVDLSFVR AFEFTYVNVY GTHVLVSAAH EARVEKFIYV STDEVYGGSL
160 170 180 190 200
DKEFDESSPK QPTNPYASSK AAAECFVQSY WEQYKFPVVI TRSSNVYGPH
210 220 230 240 250
QYPEKVIPKF ISLLQHNRKC CIHGSGLQTR NFLYATDVVE AFLTVLKKGK
260 270 280 290 300
PGEIYNIGTN FEMSVVQLAK ELIQLIKETN SESEMENWVD YVNDRPTNDM
310 320 330 340 350
RYPMKSEKIH GLGWRPKVPW KEGIKKTIEW YRENFHNWKN VEKALEPFPV
Length:350
Mass (Da):40,214
Last modified:May 1, 1999 - v1
Checksum:iEE427AD1D91EA43D
GO

Sequence cautioni

The sequence AAH05284.1 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151G → S.
Corresponds to variant rs34991132 [ dbSNP | Ensembl ].
VAR_049122
Natural varianti90 – 901E → G in CATMANS. 1 Publication
VAR_072682
Natural varianti98 – 981F → L in CATMANS. 1 Publication
VAR_072683
Natural varianti100 – 1001A → S in CATMANS. 1 Publication
VAR_072684
Natural varianti234 – 2341Y → H in CATMANS. 1 Publication
VAR_072685
Natural varianti298 – 2981N → D in CATMANS. 1 Publication
VAR_072686

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ006068 mRNA. Translation: CAA06840.1.
AF048686 mRNA. Translation: AAD50061.1.
AK313251 mRNA. Translation: BAG36061.1.
AY544125 mRNA. Translation: AAT11156.1.
AL139318, AL359708 Genomic DNA. Translation: CAI12084.1.
AL359708, AL139318 Genomic DNA. Translation: CAI12411.1.
CH471085 Genomic DNA. Translation: EAX08940.1.
CH471085 Genomic DNA. Translation: EAX08941.1.
BC005284 mRNA. Translation: AAH05284.1. Sequence problems.
BC033675 mRNA. Translation: AAH33675.1.
CCDSiCCDS9471.1.
RefSeqiNP_055120.1. NM_014305.3.
UniGeneiHs.12393.

Genome annotation databases

EnsembliENST00000261296; ENSP00000261296; ENSG00000088451.
GeneIDi23483.
KEGGihsa:23483.
UCSCiuc001vlw.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ006068 mRNA. Translation: CAA06840.1.
AF048686 mRNA. Translation: AAD50061.1.
AK313251 mRNA. Translation: BAG36061.1.
AY544125 mRNA. Translation: AAT11156.1.
AL139318, AL359708 Genomic DNA. Translation: CAI12084.1.
AL359708, AL139318 Genomic DNA. Translation: CAI12411.1.
CH471085 Genomic DNA. Translation: EAX08940.1.
CH471085 Genomic DNA. Translation: EAX08941.1.
BC005284 mRNA. Translation: AAH05284.1. Sequence problems.
BC033675 mRNA. Translation: AAH33675.1.
CCDSiCCDS9471.1.
RefSeqiNP_055120.1. NM_014305.3.
UniGeneiHs.12393.

3D structure databases

ProteinModelPortaliO95455.
SMRiO95455. Positions 19-339.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117041. 3 interactions.
IntActiO95455. 2 interactions.
STRINGi9606.ENSP00000261296.

PTM databases

PhosphoSiteiO95455.

Polymorphism and mutation databases

BioMutaiTGDS.

Proteomic databases

MaxQBiO95455.
PaxDbiO95455.
PRIDEiO95455.

Protocols and materials databases

DNASUi23483.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261296; ENSP00000261296; ENSG00000088451.
GeneIDi23483.
KEGGihsa:23483.
UCSCiuc001vlw.3. human.

Organism-specific databases

CTDi23483.
GeneCardsiGC13M095226.
HGNCiHGNC:20324. TGDS.
HPAiHPA039927.
HPA040857.
MIMi616145. phenotype.
616146. gene.
neXtProtiNX_O95455.
PharmGKBiPA128395791.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1088.
GeneTreeiENSGT00530000063128.
HOGENOMiHOG000168006.
HOVERGENiHBG007741.
InParanoidiO95455.
KOiK01710.
OMAiGFIASHM.
OrthoDBiEOG7NKKKR.
PhylomeDBiO95455.
TreeFamiTF313892.

Miscellaneous databases

GenomeRNAii23483.
NextBioi45843.
PROiO95455.
SOURCEiSearch...

Gene expression databases

BgeeiO95455.
CleanExiHS_TGDS.
GenevisibleiO95455. HS.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR005888. dTDP_Gluc_deHydtase.
IPR001509. Epimerase_deHydtase_N.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PANTHERiPTHR10366:SF41. PTHR10366:SF41. 1 hit.
PfamiPF01370. Epimerase. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of dTDP-D-glucose 4,6 dehydratase in human cells."
    Sturla L., Bisso A., Zanardi D., De Flora A., Tonetti M.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Similar to Haemophilus influenzae dTDP-glucose 4,6-dehydratase."
    Seppala R., Lehto V.-P., Gahl W.A.
    Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pericardium.
  4. "Identification of a human cell growth inhibition gene."
    Kim J.W.
    Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Urinary bladder.
  8. Cited for: VARIANTS CATMANS GLY-90; LEU-98; SER-100; HIS-234 AND ASP-298.

Entry informationi

Entry nameiTGDS_HUMAN
AccessioniPrimary (citable) accession number: O95455
Secondary accession number(s): Q05DQ3
, Q2TU31, Q5T3Z2, Q9H1T9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: May 1, 1999
Last modified: June 24, 2015
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.