Version 5.4
Homo sapiens Gene: B4GALT1
Summary
InnateDB Gene IDBG-56701.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B4GALT1
Gene Name UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Synonyms B4GAL-T1; beta4Gal-T1; CDG2D; GGTB2; GT1; GTB
Species Homo sapiens
Ensembl Gene ENSG00000086062
Encoded Proteins
IDBP-56703
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
IDBP-590219
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5\' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:33104082-33167356
Strand Reverse strand
Band p21.1
Transcripts
ENST00000379731 ENSP00000369055
ENST00000535206 ENSP00000440341
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 2 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0003945 N-acetyllactosamine synthase activity
GO:0004461 lactose synthase activity
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0008378 galactosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030145 manganese ion binding
GO:0035250 UDP-galactosyltransferase activity
GO:0042803 protein homodimerization activity
GO:0043014 alpha-tubulin binding
GO:0048487 beta-tubulin binding
Biological Process
GO:0002064 epithelial cell development
GO:0002526 acute inflammatory response
GO:0005975 carbohydrate metabolic process
GO:0005989 lactose biosynthetic process
GO:0006012 galactose metabolic process
GO:0006486 protein glycosylation
GO:0006487 protein N-linked glycosylation
GO:0007155 cell adhesion
GO:0007219 Notch signaling pathway
GO:0007338 single fertilization
GO:0007339 binding of sperm to zona pellucida
GO:0007341 penetration of zona pellucida
GO:0008285 negative regulation of cell proliferation
GO:0009101 glycoprotein biosynthetic process
GO:0009312 oligosaccharide biosynthetic process
GO:0018146 keratan sulfate biosynthetic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0030198 extracellular matrix organization
GO:0030203 glycosaminoglycan metabolic process
GO:0030879 mammary gland development
GO:0032504 multicellular organism reproduction
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042339 keratan sulfate metabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
GO:0045136 development of secondary sexual characteristics
GO:0048754 branching morphogenesis of an epithelial tube
GO:0050900 leukocyte migration
GO:0051270 regulation of cellular component movement
GO:0060046 regulation of acrosome reaction
GO:0060054 positive regulation of epithelial cell proliferation involved in wound healing
GO:0060055 angiogenesis involved in wound healing
GO:0060058 positive regulation of apoptotic process involved in mammary gland involution
Cellular Component
GO:0000138 Golgi trans cisterna
GO:0000139 Golgi membrane
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030057 desmosome
GO:0030112 glycocalyx
GO:0031526 brush border membrane
GO:0032580 Golgi cisterna membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028413
View Gene Order
ENSBTAG00000015249
Not yet available
Pathways
NETPATH
REACTOME
REACT_118798
Pre-NOTCH Processing in Golgi pathway
REACT_25085
N-Glycan antennae elongation pathway
REACT_25046
Transport to the Golgi and subsequent modification pathway
REACT_22426
Asparagine N-linked glycosylation pathway
REACT_121120
Keratan sulfate biosynthesis pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_22161
Post-translational protein modification pathway
REACT_118744
Pre-NOTCH Expression and Processing pathway
REACT_163933
Interaction With The Zona Pellucida pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_121288
Keratan sulfate/keratin metabolism pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_25208
N-glycan antennae elongation in the medial/trans-Golgi pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_111102
Signal Transduction pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_163914
Fertilization pathway
REACT_17015
Metabolism of proteins pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_163848
Reproduction pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_299
Signaling by NOTCH pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00052
Galactose metabolism pathway
hsa00510
N-Glycan biosynthesis pathway
hsa00601
Glycosphingolipid biosynthesis pathway
hsa00533
Glycosaminoglycan biosynthesis pathway
hsa00514
Other types of O-glycan biosynthesis pathway
INOH
INOH website
Galactose metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL Q86XA6
UniProt Splice Variant
Entrez Gene 2683
UniGene Hs.272011 Hs.715113
RefSeq NM_001497
HUGO HGNC:924
OMIM 137060
CCDS CCDS6535
HPRD 00659
IMGT
EMBL AL161445 BC045773
GenPept AAH45773
RNA Seq Atlas 2683

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca