GXYLT1 (glucoside xylosyltransferase 1)

2014-11-01  

Identity

HGNC
GXYLT1
LOCATION
12q12
LOCUSID
283464
ALIAS
GLT8D3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 283464
MIM: 613321
HGNC: 27482
Ensembl: ENSG00000151233

Variants:

dbSNP: 283464
ClinVar: 283464
TCGA: ENSG00000151233
COSMIC: GXYLT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151233ENST00000280876Q4G148
ENSG00000151233ENST00000398675Q4G148

Expression (GTEx)

0
5
10
15
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
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514

References

Pubmed IDYearTitleCitations
373471422023Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.1
373471422023Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease.1
354598612022A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.1
354598612022A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.1
199401192010Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats.54
199401192010Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats.54

Citation

Dessen P

GXYLT1 (glucoside xylosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64130/js/lib/case-report-explorer/