GMDS (GDP-mannose 4,6-dehydratase)

2009-08-01  

Identity

HGNC
LOCATION
6p25.3
LOCUSID
ALIAS
GMD,SDR3E1
FUSION GENES

Other Information

Locus ID:

NCBI: 2762
MIM: 602884
HGNC: 4369
Ensembl: ENSG00000112699

Variants:

dbSNP: 2762
ClinVar: 2762
TCGA: ENSG00000112699
COSMIC: GMDS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112699ENST00000380815O60547
ENSG00000112699ENST00000530927O60547

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Fructose and mannose metabolismKEGGko00051
Amino sugar and nucleotide sugar metabolismKEGGko00520
Fructose and mannose metabolismKEGGhsa00051
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
GDP-fucose biosynthesisREACTOMER-HSA-6787639

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
251731052014Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
193615062009Deficiency of GMDS leads to escape from NK cell-mediated tumor surveillance through modulation of TRAIL signaling.35
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
226453052012GDP-mannose-4,6-dehydratase is a cytosolic partner of tankyrase 1 that inhibits its poly(ADP-ribose) polymerase activity.17
220278352011GDP-mannose-4,6-dehydratase (GMDS) deficiency renders colon cancer cells resistant to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) receptor- and CD95-mediated apoptosis by inhibiting complex II formation.16
298436342018GMDS knockdown impairs cell proliferation and survival in human lung adenocarcinoma.5
237309292013FX enzyme and GDP-L-Fuc transporter expression in colorectal cancer.4
118318762001The FX enzyme is a functional component of lymphocyte activation.3
313755642019Structural and functional analysis of parameters governing tankyrase-1 interaction with telomeric repeat-binding factor 1 and GDP-mannose 4,6-dehydratase.2

Citation

Dessen P

GMDS (GDP-mannose 4,6-dehydratase)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51014/gmds-(gdp-mannose-4-6-dehydratase)