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Protein

dTDP-D-glucose 4,6-dehydratase

Gene

TGDS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Binding sitei142SubstrateBy similarity1
Active sitei143Proton donorBy similarity1
Active sitei144Proton acceptorBy similarity1
Active sitei166Proton acceptorBy similarity1

GO - Molecular functioni

Keywordsi

Molecular functionLyase
LigandNAD

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
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000088451.10
HGNCiHGNC:20324 TGDS
MIMi616146 gene
neXtProtiNX_O95455

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07268290E → G in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs724160004EnsemblClinVar.1
Natural variantiVAR_07268398F → L in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs727502808EnsemblClinVar.1
Natural variantiVAR_072684100A → S in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs140430952EnsemblClinVar.1
Natural variantiVAR_072685234Y → H in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs544436734EnsemblClinVar.1
Natural variantiVAR_072686298N → D in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs724160005EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi23483
MalaCardsiTGDS
MIMi616145 phenotype
OpenTargetsiENSG00000088451
PharmGKBiPA128395791

Polymorphism and mutation databases

BioMutaiTGDS

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001832501 – 350dTDP-D-glucose 4,6-dehydrataseAdd BLAST350

Proteomic databases

EPDiO95455
PaxDbiO95455
PeptideAtlasiO95455
PRIDEiO95455
ProteomicsDBi50889

PTM databases

iPTMnetiO95455
PhosphoSitePlusiO95455

Expressioni

Gene expression databases

BgeeiENSG00000088451
CleanExiHS_TGDS
GenevisibleiO95455 HS

Organism-specific databases

HPAiHPA039927
HPA040857

Interactioni

Protein-protein interaction databases

BioGridi117041, 6 interactors
IntActiO95455, 2 interactors
STRINGi9606.ENSP00000261296

Structurei

3D structure databases

ProteinModelPortaliO95455
SMRiO95455
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0747 Eukaryota
COG1088 LUCA
GeneTreeiENSGT00530000063128
HOGENOMiHOG000168006
HOVERGENiHBG007741
InParanoidiO95455
KOiK01710
OMAiKLIPLMC
OrthoDBiEOG091G08YL
PhylomeDBiO95455
TreeFamiTF313892

Family and domain databases

InterProiView protein in InterPro
IPR016040 NAD(P)-bd_dom
IPR036291 NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF16363 GDP_Man_Dehyd, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04912215G → S. Corresponds to variant dbSNP:rs34991132Ensembl.1
Natural variantiVAR_07268290E → G in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs724160004EnsemblClinVar.1
Natural variantiVAR_07268398F → L in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs727502808EnsemblClinVar.1
Natural variantiVAR_072684100A → S in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs140430952EnsemblClinVar.1
Natural variantiVAR_072685234Y → H in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs544436734EnsemblClinVar.1
Natural variantiVAR_072686298N → D in CATMANS. 1 PublicationCorresponds to variant dbSNP:rs724160005EnsemblClinVar.1

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 Genomic DNA No translation available.
AL359708 Genomic DNA No translation available.
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_001291359.1, NM_001304430.1
NP_055120.1, NM_014305.3
UniGeneiHs.12393

Genome annotation databases

EnsembliENST00000261296; ENSP00000261296; ENSG00000088451
GeneIDi23483
KEGGihsa:23483
UCSCiuc001vlw.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTGDS_HUMAN
AccessioniPrimary (citable) accession number: O95455
Secondary accession number(s): Q05DQ3
, Q2TU31, Q5T3Z2, Q9H1T9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 23, 2003
Last sequence update: May 1, 1999
Last modified: June 20, 2018
This is version 130 of the entry and version 1 of the sequence. See 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

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