B3GLCT (beta 3-glucosyltransferase)

2014-11-01 Affiliation

Identity

HGNC

B3GLCT

LOCATION

13q12.3

LOCUSID

145173

ALIAS

B3GALTL,B3GTL,B3Glc-T,Gal-T,beta3Glc-T

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 145173
MIM: 610308
HGNC: 20207
Ensembl: ENSG00000187676

Variants:

dbSNP: 145173
ClinVar: 145173
TCGA: ENSG00000187676
COSMIC: B3GLCT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187676	ENST00000343307	Q6Y288

Expression (GTEx)

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

Pathway	Source	External ID
Other types of O-glycan biosynthesis	KEGG	ko00514
Other types of O-glycan biosynthesis	KEGG	hsa00514
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
O-linked glycosylation	REACTOME	R-HSA-5173105
O-glycosylation of TSR domain-containing proteins	REACTOME	R-HSA-5173214

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
16909395	2006	Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.	57
25544610	2015	Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.	34
16899492	2006	Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.	28
18199743	2008	Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.	20
18798333	2008	Mutation analysis of B3GALTL in Peters Plus syndrome.	20
23889335	2014	Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.	14
21067481	2010	A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.	8
12943678	2003	A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.	7
19796186	2009	Novel B3GALTL mutation in Peters-plus Syndrome.	4

Citation

Dessen P

B3GLCT (beta 3-glucosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60679/b3glct-(beta-3-glucosyltransferase)