UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1)

2014-11-01  

Identity

HGNC
UGGT1
LOCATION
2q14.3
LOCUSID
56886
ALIAS
HUGT1,UGCGL1,UGT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56886
MIM: 605897
HGNC: 15663
Ensembl: ENSG00000136731

Variants:

dbSNP: 56886
ClinVar: 56886
TCGA: ENSG00000136731
COSMIC: UGGT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136731ENST00000259253Q9NYU2
ENSG00000136731ENST00000376723E2QRN8
ENSG00000136731ENST00000418197H7BZG0
ENSG00000136731ENST00000430075F8WCE6
ENSG00000136731ENST00000438277F8WCI2

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
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032

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
382724462024Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.0
382724462024Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.0
373458062023The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I.4
373458062023The ER folding sensor UGGT1 acts on TAPBPR-chaperoned peptide-free MHC I.4
339090262021Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.3
339090262021Polypeptide N-acetylgalactosaminyltransferase 18 retains in endoplasmic reticulum depending on its luminal regions interacting with ER resident UGGT1, PLOD3 and LPCAT1.3
328580852020Glycan dependent refolding activity of ER glucosyltransferase (UGGT).1
333200952020Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.23
328580852020Glycan dependent refolding activity of ER glucosyltransferase (UGGT).1
333200952020Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2.23
283516172017Interaction of FAM5C with UDP-glucose:glycoprotein glucosyltransferase 1 (UGGT1): Implication of N-glycosylation in FAM5C secretion.1
284259172017TAPBPR bridges UDP-glucose:glycoprotein glucosyltransferase 1 onto MHC class I to provide quality control in the antigen presentation pathway.29
285450592017UGGT1 enhances enterovirus 71 pathogenicity by promoting viral RNA synthesis and viral replication.13
288780842017Human Herpesvirus 8 Interleukin-6 Interacts with Calnexin Cycle Components and Promotes Protein Folding.9
283516172017Interaction of FAM5C with UDP-glucose:glycoprotein glucosyltransferase 1 (UGGT1): Implication of N-glycosylation in FAM5C secretion.1

Citation

Dessen P

UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75466/js/lib/gene-fusions-explorer/