B4GALT1 (beta-1,4-galactosyltransferase 1)

2007-02-01  

Identity

HGNC
B4GALT1
LOCATION
9p21.1
LOCUSID
2683
ALIAS
B4GAL-T1,CDG2D,GGTB2,GT1,GTB,beta4Gal-T1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2683
MIM: 137060
HGNC: 924
Ensembl: ENSG00000086062

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086062ENST00000379731P15291
ENSG00000086062ENST00000535206Q86XA6

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
Galactose metabolismKEGGko00052
N-Glycan biosynthesisKEGGko00510
Other types of O-glycan biosynthesisKEGGko00514
Glycosaminoglycan biosynthesis - keratan sulfateKEGGko00533
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGko00601
Galactose metabolismKEGGhsa00052
N-Glycan biosynthesisKEGGhsa00510
Other types of O-glycan biosynthesisKEGGhsa00514
Glycosaminoglycan biosynthesis - keratan sulfateKEGGhsa00533
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGhsa00601
Metabolic pathwaysKEGGhsa01100
N-glycan biosynthesis, complex typeKEGGhsa_M00075
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4CerKEGGhsa_M00071
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4CerKEGGM00071
N-glycan biosynthesis, complex typeKEGGM00075
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
N-glycan antennae elongation in the medial/trans-GolgiREACTOMER-HSA-975576
N-Glycan antennae elongationREACTOMER-HSA-975577
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Interaction With The Zona PellucidaREACTOMER-HSA-1300644
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Pre-NOTCH Expression and ProcessingREACTOMER-HSA-1912422
Pre-NOTCH Processing in GolgiREACTOMER-HSA-1912420
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Lactose synthesisREACTOMER-HSA-5653890
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854
Neutrophil degranulationREACTOMER-HSA-6798695
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
371989832023Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.0
373030632023B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.7
373280642023In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.1
371989832023Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.0
373030632023B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.7
373280642023In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.1
332380002021Increased B4GALT1 expression is associated with platelet surface galactosylation and thrombopoietin plasma levels in MPNs.8
333098572021Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110).15
348554752021Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.10
332380002021Increased B4GALT1 expression is associated with platelet surface galactosylation and thrombopoietin plasma levels in MPNs.8
333098572021Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110).15
348554752021Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.10
318000992020Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.3
320272902020[Effect of B4GALT1 on Proliferation of Its Co-cultured Human Acute Myeloid Leukemia Cell Line in Bone Marrow Stromal Cells].0
321576882020B4GALT1-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/css/cancer-prone-explorer/humanGenome