B4GALT1 (beta-1,4-galactosyltransferase 1)

2007-02-01 Affiliation

Identity

HGNC

B4GALT1

LOCATION

9p21.1

LOCUSID

2683

ALIAS

B4GAL-T1,CDG2D,GGTB2,GT1,GTB,beta4Gal-T1

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: 2683
MIM: 137060
HGNC: 924
Ensembl: ENSG00000086062

Variants:

dbSNP: 2683
ClinVar: 2683
TCGA: ENSG00000086062
COSMIC: B4GALT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000086062	ENST00000379731	P15291
ENSG00000086062	ENST00000535206	Q86XA6

Expression (GTEx)

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

Pathway	Source	External ID
Galactose metabolism	KEGG	ko00052
N-Glycan biosynthesis	KEGG	ko00510
Other types of O-glycan biosynthesis	KEGG	ko00514
Glycosaminoglycan biosynthesis - keratan sulfate	KEGG	ko00533
Glycosphingolipid biosynthesis - lacto and neolacto series	KEGG	ko00601
Galactose metabolism	KEGG	hsa00052
N-Glycan biosynthesis	KEGG	hsa00510
Other types of O-glycan biosynthesis	KEGG	hsa00514
Glycosaminoglycan biosynthesis - keratan sulfate	KEGG	hsa00533
Glycosphingolipid biosynthesis - lacto and neolacto series	KEGG	hsa00601
Metabolic pathways	KEGG	hsa01100
N-glycan biosynthesis, complex type	KEGG	hsa_M00075
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer	KEGG	hsa_M00071
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer	KEGG	M00071
N-glycan biosynthesis, complex type	KEGG	M00075
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Asparagine N-linked glycosylation	REACTOME	R-HSA-446203
Transport to the Golgi and subsequent modification	REACTOME	R-HSA-948021
N-glycan antennae elongation in the medial/trans-Golgi	REACTOME	R-HSA-975576
N-Glycan antennae elongation	REACTOME	R-HSA-975577
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Reproduction	REACTOME	R-HSA-1474165
Fertilization	REACTOME	R-HSA-1187000
Interaction With The Zona Pellucida	REACTOME	R-HSA-1300644
Signal Transduction	REACTOME	R-HSA-162582
Signaling by NOTCH	REACTOME	R-HSA-157118
Pre-NOTCH Expression and Processing	REACTOME	R-HSA-1912422
Pre-NOTCH Processing in Golgi	REACTOME	R-HSA-1912420
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Lactose synthesis	REACTOME	R-HSA-5653890
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Keratan sulfate/keratin metabolism	REACTOME	R-HSA-1638074
Keratan sulfate biosynthesis	REACTOME	R-HSA-2022854
Neutrophil degranulation	REACTOME	R-HSA-6798695
Mannose type O-glycan biosynthesis	KEGG	ko00515
Mannose type O-glycan biosynthesis	KEGG	hsa00515

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19204726	2009	Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.	63
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20378551	2010	Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells.	35
16675551	2006	An antibody produced in tobacco expressing a hybrid beta-1,4-galactosyltransferase is essentially devoid of plant carbohydrate epitopes.	26
17021253	2006	Transition of galactosyltransferase 1 from trans-Golgi cisterna to the trans-Golgi network is signal mediated.	25
23744354	2013	B4GALT family mediates the multidrug resistance of human leukemia cells by regulating the hedgehog pathway and the expression of p-glycoprotein and multidrug resistance-associated protein 1.	25
11901181	2002	Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.	21
15611127	2005	Elevated beta1,4-galactosyltransferase I in highly metastatic human lung cancer cells. Identification of E1AF as important transcription activator.	15
16157350	2005	Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety.	13
19261593	2009	Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.	13

Citation

Dessen P

B4GALT1 (beta-1,4-galactosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43805/b4galt1-(beta-1-4-galactosyltransferase-1)