Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.4.1.-
Transferases;
Glycosyltransferases;
Hexosyltransferases;
2.4.1.22
Transferases;
Glycosyltransferases;
Hexosyltransferases;
lactose synthase
2.4.1.275
Transferases;
Glycosyltransferases;
Hexosyltransferases;
neolactotriaosylceramide β-1,4-galactosyltransferase
2.4.1.38
Transferases;
Glycosyltransferases;
Hexosyltransferases;
β-N-acetylglucosaminylglycopeptide β-1,4-galactosyltransferase
2.4.1.90
Transferases;
Glycosyltransferases;
Hexosyltransferases;
N-acetyllactosamine synthase
PDB | Resolution (Å) | PDB name |
---|---|---|
2AE7 | 2.0 | Crystal Structure of Human M340H-Beta1,4-Galactosyltransferase-I (M340H-B4GAL-T1) in Complex with Pentasaccharide |
2AEC | 2.0 | Crystal Structure of Human M340H-Beta1,4-Galactosyltransferase-I (M340H-B4GAL-T1) in Complex with GlcNAc-beta1,2-Man-alpha1,6-Man-beta-OR |
2AES | 2.0 | Crystal Structure of Human M340H-Beta1,4-Galactosyltransferase-I (M340H-B4Gal-T1) in Complex with GlcNAc-beta1,2-Man-alpha1,3-Man-beta-OR |
2AGD | 1.9 | Crystal Structure of Human M340H-Beta-1,4-Galactosyltransferase-I(M340H-B4Gal-T1) in Complex with GlcNAc-beta1,4-Man-alpha1,3-Man-beta-OR |
2AH9 | 2.0 | Crystal Structure of Human M340H-Beta-1,4-Galactosyltransferase-I (M340H-B4Gal-T1) in Complex with Chitotriose |
2FY7 | 1.7 | Crystal structure of the catalytic domain of the human beta1,4-galactosyltransferase mutant M339H in apo form |
2FYA | 1.9 | Crystal structure of the catalytic domain of the human beta1, 4-galactosyltransferase mutant M339H complex with manganese |
2FYB | 1.9 | Crystal structure of the catalytic domain of the human beta1,4-galactosyltransferase mutant M339H in complex with Mn and UDP-galactose in open conformation |
3EE5 | 2.2 | Crystal structure of human M340H-Beta1,4-Galactosyltransferase-I (M340H-B4GAL-T1) in complex with GLCNAC-Beta1,3-Gal-Beta-Naphthalenemethanol |
4EE3 | 2.3 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with pentasaccharide |
4EE4 | 1.95 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with tetrasaccharide from Lacto-N-neohexose |
4EE5 | 2.2 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with trisaccharide from Lacto-N-neotetraose |
4EEA | 2.0 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with GLCNAC-BETA1,6-Gal-Beta1,4-Glc-BETA |
4EEG | 2.2 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with GLCNAC-BETA1,6-Gal-Beta |
4EEM | 2.2 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with GLCNAC-BETA1,6-MAN-ALPHA-methyl |
4EEO | 2.3 | Crystal structure of human M340H-beta-1,4-galactosyltransferase-1 (M340H-B4GAL-T1) in complex with GLCNAC-BETA1,6-GlcNAc-ALPHA-benzyl |
4L41 | 2.7 | Human Lactose synthase: A 2:1 complex between human alpha-lactalbumin and human beta1,4-galactosyltransferase |
6FWT | 1.845 | Crystal structure of human wild type beta-1,4-galactosyltransferase-1 (B4GalT1) in apo-open monomeric form |
6FWU | 2.35 | Crystal structure of human wild type beta-1,4-galactosyltransferase-1 (B4GalT1) in apo-closed dimeric form |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0002526 | acute inflammatory response |
Biological Process | GO:0060055 | angiogenesis involved in wound healing |
Biological Process | GO:0007339 | binding of sperm to zona pellucida |
Biological Process | GO:0007155 | cell adhesion |
Biological Process | GO:0045136 | development of secondary sexual characteristics |
Biological Process | GO:0002064 | epithelial cell development |
Biological Process | GO:0050673 | epithelial cell proliferation |
Biological Process | GO:0030198 | extracellular matrix organization |
Biological Process | GO:0006012 | galactose metabolic process |
Biological Process | GO:0005989 | lactose biosynthetic process |
Biological Process | GO:0006629 | lipid metabolic process |
Biological Process | GO:1905517 | macrophage migration |
Biological Process | GO:0050680 | negative regulation of epithelial cell proliferation |
Biological Process | GO:0009312 | oligosaccharide biosynthetic process |
Biological Process | GO:0007341 | penetration of zona pellucida |
Biological Process | GO:0043065 | positive regulation of apoptotic process |
Biological Process | GO:0060054 | positive regulation of epithelial cell proliferation involved in wound healing |
Biological Process | GO:0006487 | protein N-linked glycosylation |
Biological Process | GO:0060046 | regulation of acrosome reaction |
Molecular Function | GO:0003945 | N-acetyllactosamine synthase activity |
Molecular Function | GO:0035250 | UDP-galactosyltransferase activity |
Molecular Function | GO:0043014 | alpha-tubulin binding |
Molecular Function | GO:0003831 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity |
Molecular Function | GO:0048487 | beta-tubulin binding |
Molecular Function | GO:0008092 | cytoskeletal protein binding |
Molecular Function | GO:0008378 | galactosyltransferase activity |
Molecular Function | GO:0042802 | identical protein binding |
Molecular Function | GO:0004461 | lactose synthase activity |
Molecular Function | GO:0030145 | manganese ion binding |
Cellular Component | GO:0005794 | Golgi apparatus |
Cellular Component | GO:0032580 | Golgi cisterna membrane |
Cellular Component | GO:0000139 | Golgi membrane |
Cellular Component | GO:0000138 | Golgi trans cisterna |
Cellular Component | GO:0035577 | azurophil granule membrane |
Cellular Component | GO:0016323 | basolateral plasma membrane |
Cellular Component | GO:0031526 | brush border membrane |
Cellular Component | GO:0030057 | desmosome |
Cellular Component | GO:0009897 | external side of plasma membrane |
Cellular Component | GO:0070062 | extracellular exosome |
Cellular Component | GO:0005615 | extracellular space |
Cellular Component | GO:0030175 | filopodium |
Cellular Component | GO:0016020 | membrane |
Cellular Component | GO:0005886 | plasma membrane |
Cellular Component | GO:0032991 | protein-containing complex |
Cellular Component | GO:0030667 | secretory granule membrane |
InterPro | InterPro name |
---|---|
IPR003859 | Beta-1,4-galactosyltransferase |
IPR027791 | Galactosyltransferase, C-terminal |
IPR027995 | Galactosyltransferase, N-terminal |
IPR029044 | Nucleotide-diphospho-sugar transferases |
Pfam | Pfam name |
---|---|
PF02709 | N-terminal domain of galactosyltransferase |
PF13733 | N-terminal region of glycosyl transferase group 7 |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-1912420 | Pre-NOTCH Processing in Golgi | Leaf | R-HSA-162582 | Signal Transduction |
R-HSA-2022854 | Keratan sulfate biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-2534343 | Interaction With Cumulus Cells And The Zona Pellucida | Leaf | R-HSA-1474165 | Reproduction |
R-HSA-3656244 | Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | Leaf | R-HSA-1643685 | Disease |
R-HSA-4793953 | Defective B4GALT1 causes CDG-2d | Leaf | R-HSA-1643685 | Disease |
R-HSA-5653890 | Lactose synthesis | Leaf | R-HSA-1430728 | Metabolism |
R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
R-HSA-975577 | N-Glycan antennae elongation | Leaf | R-HSA-392499 | Metabolism of proteins |
Location | ECO term | Pubmed |
---|---|---|
Cell membrane | ECO:0000269 | PubMed:1714903 |
Cell projection, filopodium | ECO:0000250 | |
Cell surface | ECO:0000269 | PubMed:1714903 |
Golgi apparatus, Golgi stack membrane | ECO:0000269 | PubMed:1714903 |
Golgi apparatus, Golgi stack membrane | ECO:0000269 | PubMed:20378551 |
Secreted | ECO:0000303 | PubMed:2120039 |
HPO ID | HPO name |
---|---|
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 |
HP:0000969 | Edema |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001305 | Dandy-Walker malformation |
HP:0001321 | Cerebellar hypoplasia |
HP:0001518 | Small for gestational age |
HP:0001622 | Premature birth |
HP:0001744 | Splenomegaly |
HP:0001892 | Abnormal bleeding |
HP:0001976 | Reduced antithrombin III activity |
HP:0001999 | Abnormal facial shape |
HP:0002014 | Diarrhea |
HP:0002240 | Hepatomegaly |
HP:0002910 | Elevated hepatic transaminase |
HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
HP:0003186 | Inverted nipples |
HP:0003198 | Myopathy |
HP:0003199 | Decreased muscle mass |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003256 | Abnormality of the coagulation cascade |
HP:0003563 | Decreased LDL cholesterol concentration |
HP:0003577 | Congenital onset |
HP:0003645 | Prolonged partial thromboplastin time |
HP:0004855 | Reduced protein S activity |
HP:0005543 | Reduced protein C activity |
HP:0005989 | Redundant neck skin |
HP:0008947 | Infantile muscular hypotonia |
HP:0009062 | Infantile axial hypotonia |
HP:0011003 | High myopia |
HP:0011123 | Inflammatory abnormality of the skin |
HP:0012301 | Type II transferrin isoform profile |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
b4galt1-cdg | MONDO:0011772 | E77 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607091 | Orphanet:79332 |