GMDS (GDP-mannose 4,6-dehydratase)

2009-08-01  

Identity

HGNC
GMDS
LOCATION
6p25.3
LOCUSID
2762
ALIAS
GMD,SDR3E1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
313755642019Structural and functional analysis of parameters governing tankyrase-1 interaction with telomeric repeat-binding factor 1 and GDP-mannose 4,6-dehydratase.13
313755642019Structural and functional analysis of parameters governing tankyrase-1 interaction with telomeric repeat-binding factor 1 and GDP-mannose 4,6-dehydratase.13
298436342018GMDS knockdown impairs cell proliferation and survival in human lung adenocarcinoma.14
298436342018GMDS knockdown impairs cell proliferation and survival in human lung adenocarcinoma.14
263822912016Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development.6
263822912016Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development.6
251731052014Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.104
251731052014Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.104
237309292013FX enzyme and GDP-L-Fuc transporter expression in colorectal cancer.9
239229702013Mutation of GDP-mannose-4,6-dehydratase in colorectal cancer metastasis.17
237309292013FX enzyme and GDP-L-Fuc transporter expression in colorectal cancer.9
239229702013Mutation of GDP-mannose-4,6-dehydratase in colorectal cancer metastasis.17
226453052012GDP-mannose-4,6-dehydratase is a cytosolic partner of tankyrase 1 that inhibits its poly(ADP-ribose) polymerase activity.25
226453052012GDP-mannose-4,6-dehydratase is a cytosolic partner of tankyrase 1 that inhibits its poly(ADP-ribose) polymerase activity.25
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.22

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)