beta-1,4-galactosyltransferase 1

Summary
Gene Symbol
  • B4GALT1
Aliases
  • Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
  • N-acetyllactosamine synthase
  • beta4Gal-T1
  • lactose synthase A
Organism
Homo sapiens (human)
External Links
NCBI Gene
2683
GGDB ID
HGNC
924
mRNA
map
  • 9p13
Protein
OMIM
KEGG Gene ID
hsa:2683
PubChem
2683
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative initiation
  • Cell membrane
  • Cell projection
  • Congenital disorder of glycosylation
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Lipid metabolism
  • Manganese
  • Metal-binding
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P15291
  • Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase
  • Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
  • Lactose synthase A protein
  • N-acetyllactosamine synthase
  • Nal synthase
  • Neolactotriaosylceramide beta-1,4-galactosyltransferase
  • UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1
  • UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000086062

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg077
Gene Symbol
  • B4GALT1
Reactions
Displaying all 3 entries
Donor Acceptor Product Reference
UDP-Gal
G02522JF
UDP-Gal
G49108TO
G00055MO
UDP-Glc
G49108TO
G38884XS
Displaying all 8 entries
Donor Acceptor Product Reference
UDP-Gal
G17752YB
UDP-Gal
G02522JF
UDP-Gal
G11457RF
UDP-Gal
G32723SL
UDP-Gal
G64844ET
UDP-Gal
G64973KT
UDP-Gal
G88696BY
UDP-Gal
G41245OZ
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus XP_342821 XM_342821
Mus musculus NP_071641 NM_022305
KEGG BRITE Database
Orthology
K07966
Name
beta-1,4-galactosyltransferase 1 [EC:2.4.1.22 2.4.1.90 2.4.1.38 2.4.1.-]
References
Reactions
Disease
Disease Ontology
Displaying entries 1 - 10 of 57 in total
DO ID Disease Name Source
DOID:0070256 congenital disorder of glycosylation type IId
DOID:0080199 colorectal carcinoma
DOID:0110741 type 1 diabetes mellitus 2
DOID:0110742 type 1 diabetes mellitus 3
DOID:0110743 type 1 diabetes mellitus 4
DOID:0110744 type 1 diabetes mellitus 5
DOID:0110745 type 1 diabetes mellitus 6
DOID:0110746 type 1 diabetes mellitus 7
DOID:0110747 type 1 diabetes mellitus 8
DOID:0110748 obsolete type 1 diabetes mellitus 9
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000219 Thin upper lip vermilion
HP:0000238 Hydrocephalus
HP:0000256 Macrocephaly
HP:0000316 Hypertelorism
HP:0000343 Long philtrum
HP:0000369 Low-set ears
HP:0000431 Wide nasal bridge
HP:0000545 Myopia
HP:0000821 Hypothyroidism
Displaying all 3 entries
Disease ID Disease Name
OMIM:607091
  • B4GALT1-congenital disorder of glycosylation
OMIM:620364
  • combined low LDL and fibrinogen
ORPHA:79332
  • B4GALT1-congenital disorder of glycosylation
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002816
Gene Name
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024