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
37198983	2023	Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.	0
37303063	2023	B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.	7
37328064	2023	In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.	1
37198983	2023	Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.	0
37303063	2023	B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.	7
37328064	2023	In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.	1
33238000	2021	Increased B4GALT1 expression is associated with platelet surface galactosylation and thrombopoietin plasma levels in MPNs.	8
33309857	2021	Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110).	15
34855475	2021	Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.	10
33238000	2021	Increased B4GALT1 expression is associated with platelet surface galactosylation and thrombopoietin plasma levels in MPNs.	8
33309857	2021	Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110).	15
34855475	2021	Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.	10
31800099	2020	Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.	3
32027290	2020	[Effect of B4GALT1 on Proliferation of Its Co-cultured Human Acute Myeloid Leukemia Cell Line in Bone Marrow Stromal Cells].	0
32157688	2020	B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.	4

Citation

Dessen P

B4GALT1 (beta-1,4-galactosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43805/favicon/css/lib/dataTables.bootstrap.min.css