Human Gene TGDS (ENST00000261296.7) from GENCODE V44
  Description: Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), transcript variant 4, non-coding RNA. (from RefSeq NR_130732)
RefSeq Summary (NM_014305): 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].
Gencode Transcript: ENST00000261296.7
Gencode Gene: ENSG00000088451.11
Transcript (Including UTRs)
   Position: hg38 chr13:94,574,054-94,596,152 Size: 22,099 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr13:94,574,782-94,596,136 Size: 21,355 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:94,574,054-94,596,152)mRNA (may differ from genome)Protein (350 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TGDS_HUMAN
DESCRIPTION: RecName: Full=dTDP-D-glucose 4,6-dehydratase; EC=4.2.1.46;
CATALYTIC ACTIVITY: dTDP-alpha-D-glucose = dTDP-4-dehydro-6-deoxy- alpha-D-glucose + H(2)O.
COFACTOR: NAD (By similarity).
SIMILARITY: Belongs to the sugar epimerase family. dTDP-glucose dehydratase subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TGDS
Diseases sorted by gene-association score: catel-manzke syndrome* (1702), hyperphalangy (18), temtamy preaxial brachydactyly syndrome (12), macroglossia (9), corneal fleck dystrophy (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.49 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 253.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -0.7016-0.044 Picture PostScript Text
3' UTR -163.90728-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005888 - dTDP_Gluc_deHydtase
IPR001509 - Epimerase_deHydtase
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF01370 - NAD dependent epimerase/dehydratase family

ModBase Predicted Comparative 3D Structure on O95455
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008460 dTDP-glucose 4,6-dehydratase activity
GO:0016829 lyase activity


-  Descriptions from all associated GenBank mRNAs
  KJ893384 - Synthetic construct Homo sapiens clone ccsbBroadEn_02778 TGDS gene, encodes complete protein.
AJ006068 - Homo sapiens mRNA for dTDP-D-glucose 4,6-dehydratase.
BC033675 - Homo sapiens TDP-glucose 4,6-dehydratase, mRNA (cDNA clone MGC:45138 IMAGE:5175390), complete cds.
AF048686 - Homo sapiens dTDP-glucose 4,6-dehydratase-like protein mRNA, complete cds.
JD418454 - Sequence 399478 from Patent EP1572962.
AY544125 - Homo sapiens growth-inhibiting protein 21 mRNA, complete cds.
AK313251 - Homo sapiens cDNA, FLJ93757, Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.
JF432660 - Synthetic construct Homo sapiens clone IMAGE:100073898 TDP-glucose 4,6-dehydratase (TGDS) gene, encodes complete protein.
AF339778 - Homo sapiens clone IMAGE:1567660, mRNA sequence.
BC005284 - Homo sapiens TDP-glucose 4,6-dehydratase, mRNA (cDNA clone IMAGE:3510977), partial cds.
AK303439 - Homo sapiens cDNA FLJ50333 complete cds, moderately similar to dTDP-D-glucose 4,6-dehydratase (EC 4.2.1.46).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000261296.1, ENST00000261296.2, ENST00000261296.3, ENST00000261296.4, ENST00000261296.5, ENST00000261296.6, NR_130732, O95455, Q5T3Z2, Q9H1T9, TGDS_HUMAN, uc001vlw.1, uc001vlw.2, uc001vlw.3, uc001vlw.4, uc001vlw.5
UCSC ID: ENST00000261296.7
RefSeq Accession: NM_014305
Protein: O95455 (aka TGDS_HUMAN)
CCDS: CCDS9471.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.