UXS1 (UDP-glucuronate decarboxylase 1)

2014-11-01  

Identity

HGNC
UXS1
LOCATION
2q12.2
LOCUSID
80146
ALIAS
SDR6E1,UGD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80146
MIM: 609749
HGNC: 17729
Ensembl: ENSG00000115652

Variants:

dbSNP: 80146
ClinVar: 80146
TCGA: ENSG00000115652
COSMIC: UXS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115652ENST00000283148Q8NBZ7
ENSG00000115652ENST00000409032Q8NBZ7
ENSG00000115652ENST00000409501Q8NBZ7
ENSG00000115652ENST00000416298C9JCB7
ENSG00000115652ENST00000436241C9J3T9
ENSG00000115652ENST00000441952C9JE50
ENSG00000115652ENST00000444193C9JFU6
ENSG00000115652ENST00000457835C9JW33

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Nucleotide sugar biosynthesis, eukaryotesKEGGhsa_M00361
Nucleotide sugar biosynthesis, eukaryotesKEGGM00361

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190286982009Functional UDP-xylose transport across the endoplasmic reticulum/Golgi membrane in a Chinese hamster ovary cell mutant defective in UDP-xylose Synthase.24
118773872002UDP-glucuronate decarboxylase, a key enzyme in proteoglycan synthesis: cloning, characterization, and localization.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
236565922013Human UDP-α-d-xylose synthase forms a catalytically important tetramer that has not been observed in crystal structures.1
255217172015Man o' war mutation in UDP-α-D-xylose synthase favors the abortive catalytic cycle and uncovers a latent potential for hexamer formation.1

Citation

Dessen P

UXS1 (UDP-glucuronate decarboxylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75578/uxs1