B3GAT1 (beta-1,3-glucuronyltransferase 1)

2007-02-01  

Identity

HGNC
B3GAT1
LOCATION
11q25
LOCUSID
27087
ALIAS
CD57,GLCATP,GLCUATP,HNK1,LEU7,NK-1,NK1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27087
MIM: 151290
HGNC: 921
Ensembl: ENSG00000109956

Variants:

dbSNP: 27087
ClinVar: 27087
TCGA: ENSG00000109956
COSMIC: B3GAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109956ENST00000312527Q9P2W7
ENSG00000109956ENST00000392580Q9P2W7
ENSG00000109956ENST00000524765Q9P2W7

Expression (GTEx)

0
50
100
150
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
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

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
378948202023Molecular and Cellular Insights: A Focus on Glycans and the HNK1 Epitope in Autism Spectrum Disorder.1
378948202023Molecular and Cellular Insights: A Focus on Glycans and the HNK1 Epitope in Autism Spectrum Disorder.1
341151182021CMV exposure drives long-term CD57+ CD4 memory T-cell inflation following allogeneic stem cell transplant.10
341151182021CMV exposure drives long-term CD57+ CD4 memory T-cell inflation following allogeneic stem cell transplant.10
320311202020CD57 as a routine neuroendocrine marker for liver metastasis.1
324399762020MED15, transforming growth factor beta 1 (TGF-β1), FcγRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous cell carcinoma.3
328577892020Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.14
320311202020CD57 as a routine neuroendocrine marker for liver metastasis.1
324399762020MED15, transforming growth factor beta 1 (TGF-β1), FcγRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous cell carcinoma.3
328577892020Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.14
308954362019Decreased Expression of the CD57 Molecule in T Lymphocytes of Patients with Chronic Fatigue Syndrome.3
308954362019Decreased Expression of the CD57 Molecule in T Lymphocytes of Patients with Chronic Fatigue Syndrome.3
294761092018STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles.21
294761092018STAT3 regulates cytotoxicity of human CD57+ CD4+ T cells in blood and lymphoid follicles.21
267388502017HNK-1 Carrier Glycoproteins Are Decreased in the Alzheimer's Disease Brain.6

Citation

Dessen P

B3GAT1 (beta-1,3-glucuronyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45625/b3gat1-(beta-1-3-glucuronyltransferase-1)