TGDS

Protein identityUniProt · HPA

UniProt accession

O95455

Gene

TGDS

Ensembl

ENSG00000088451

Chromosome

13

Canonical length

350 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>O95455|TGDS
     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

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGDS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGDS.

Disease | AllUniProt

Conditions TGDS is implicated in, by any mechanism.

• Catel-Manzke syndrome (CATMANS) MIM:616145

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 146 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Catel-Manzke syndrome
• Inborn genetic diseases
• TGDS-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

gnomAD missense Z

0.3

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycosaminoglycan biosynthetic process
• nucleotide-sugar metabolic process

Molecular functions

• dTDP-glucose 4,6-dehydratase activity
• UDP-glucose 4,6-dehydratase activity

Cellular components

• endoplasmic reticulum
• Golgi apparatus

Protein domainsUniProt · Pfam · InterPro

• NAD(P)-binding domain
• NAD(P)-binding domain superfamily
• GDP-mannose 4,6 dehydratase
• dTDP-glucose 4,6-dehydratase

KeywordsUniProt

• Endoplasmic reticulum
• Golgi apparatus
• Lyase
• NAD