Gene/Proteome Database (LMPD)

LMPD ID
LMP002816
Gene ID
2683
Species
Homo sapiens (Human)
Gene Name
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Gene Symbol
B4GALT1
Synonyms
B4GAL-T1; CDG2D; GGTB2; GT1; GTB; beta4Gal-T1
Alternate Names
beta-1,4-galactosyltransferase 1; lactose synthase; beta-1,4-GalTase 1; glycoprotein-4-beta-galactosyltransferase 2; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1
Chromosome
9
Map Location
9p13
EC Number
2.4.1.-
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]
Orthologs
View orthologs and multiple alignments for B4GALT1

Proteins

beta-1,4-galactosyltransferase 1
Refseq ID NP_001488
Protein GI 13929462
UniProt ID P15291
mRNA ID NM_001497
Length 398
RefSeq Status
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS
mat_peptide: 78..398 product: beta-1,4-galactosyltransferase 1, soluble form calculated_mol_wt: 36047 peptide sequence: RTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS

Gene Information

Entrez Gene ID
2683
Gene Name
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Gene Symbol
B4GALT1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IDA:UniProtKB C Golgi apparatus
GO:0000139 TAS:Reactome C Golgi membrane
GO:0000138 IDA:UniProtKB C Golgi trans cisterna
GO:0016323 IDA:UniProtKB C basolateral plasma membrane
GO:0031526 IDA:UniProtKB C brush border membrane
GO:0030057 IDA:UniProtKB C desmosome
GO:0009897 IDA:UniProtKB C external side of plasma membrane
GO:0005615 IDA:UniProt C extracellular space
GO:0070062 IDA:UniProtKB C extracellular vesicular exosome
GO:0030112 IDA:UniProtKB C glycocalyx
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0005886 TAS:Reactome C plasma membrane
GO:0003945 IDA:UniProtKB F N-acetyllactosamine synthase activity
GO:0035250 IDA:UniProtKB F UDP-galactosyltransferase activity
GO:0043014 IDA:UniProtKB F alpha-tubulin binding
GO:0003831 IDA:UniProtKB F beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0048487 IPI:UniProtKB F beta-tubulin binding
GO:0008378 NAS:UniProtKB F galactosyltransferase activity
GO:0004461 IDA:UniProtKB F lactose synthase activity
GO:0030145 IDA:UniProtKB F manganese ion binding
GO:0042803 IDA:UniProtKB F protein homodimerization activity
GO:0007219 TAS:Reactome P Notch signaling pathway
GO:0002526 IEA:Ensembl P acute inflammatory response
GO:0060055 IEA:Ensembl P angiogenesis involved in wound healing
GO:0007339 TAS:Reactome P binding of sperm to zona pellucida
GO:0048754 IEA:Ensembl P branching morphogenesis of an epithelial tube
GO:0005975 TAS:Reactome P carbohydrate metabolic process
GO:0007155 IEA:Ensembl P cell adhesion
GO:0044267 TAS:Reactome P cellular protein metabolic process
GO:0045136 IEA:Ensembl P development of secondary sexual characteristics
GO:0002064 IEA:Ensembl P epithelial cell development
GO:0030198 IEA:Ensembl P extracellular matrix organization
GO:0006012 IEA:Ensembl P galactose metabolic process
GO:0030203 TAS:Reactome P glycosaminoglycan metabolic process
GO:0018146 TAS:Reactome P keratan sulfate biosynthetic process
GO:0042339 TAS:Reactome P keratan sulfate metabolic process
GO:0005989 IEA:Ensembl P lactose biosynthetic process
GO:0050900 IEA:Ensembl P leukocyte migration
GO:0030879 IEA:Ensembl P mammary gland development
GO:0032504 TAS:Reactome P multicellular organism reproduction
GO:0008285 IEA:Ensembl P negative regulation of cell proliferation
GO:0009312 IDA:UniProtKB P oligosaccharide biosynthetic process
GO:0007341 IEA:Ensembl P penetration of zona pellucida
GO:0060058 IEA:Ensembl P positive regulation of apoptotic process involved in mammary gland involution
GO:0060054 IEA:Ensembl P positive regulation of epithelial cell proliferation involved in wound healing
GO:0043687 TAS:Reactome P post-translational protein modification
GO:0006487 IDA:UniProtKB P protein N-linked glycosylation
GO:0018279 TAS:Reactome P protein N-linked glycosylation via asparagine
GO:0060046 IEA:Ensembl P regulation of acrosome reaction
GO:0051270 IEA:Ensembl P regulation of cellular component movement
GO:0007338 TAS:Reactome P single fertilization
GO:0044281 TAS:Reactome P small molecule metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa00533 Glycosaminoglycan biosynthesis - keratan sulfate
hsa00510 N-Glycan biosynthesis
hsa00514 Other types of O-glycan biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_163933 Interaction With The Zona Pellucida

Domain Information

InterPro Annotations

Accession Description
IPR003859 Beta-1,4-galactosyltransferase
IPR027791 Galactosyltransferase, C-terminal
IPR027995 Galactosyltransferase, N-terminal
IPR029044 Nucleotide-diphospho-sugar transferases

UniProt Annotations

Entry Information

Gene Name
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Protein Entry
B4GT1_HUMAN
UniProt ID
P15291
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative initiation; Named isoforms=2; Name=Long; Synonyms=Cell surface; IsoId=P15291-1; Sequence=Displayed; Name=Short; Synonyms=Golgi complex; IsoId=P15291-2; Sequence=VSP_018802;
Catalytic Activity UDP-alpha-D-galactose + D-glucose = UDP + lactose.
Catalytic Activity UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine.
Catalytic Activity UDP-alpha-D-galactose + N-acetyl-beta-D- glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N- acetyl-beta-D-glucosaminylglycopeptide.
Cofactor Name=Mn(2+); Xref=ChEBI
Disease Congenital disorder of glycosylation 2D (CDG2D) [MIM
Function The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
Function The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.
Pathway Protein modification; protein glycosylation.
Ptm The soluble form derives from the membrane forms by proteolytic processing.
Similarity Belongs to the glycosyltransferase 7 family.
Subcellular Location Isoform Long: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Cell surface. Note=Found in trans cisternae of Golgi.
Subcellular Location Isoform Short: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Found in trans cisternae of Golgi.
Subcellular Location Processed beta-1,4-galactosyltransferase 1: Secreted. Note=Soluble form found in body fluids.
Subunit Homodimer; and heterodimer with alpha-lactalbumin to form lactose synthase. {ECO
Tissue Specificity Ubiquitously expressed, but at very low levels in fetal and adult brain.
Web Resource Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4-galactosyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_436";
Web Resource Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALT1";

Identical and Related Proteins

Unique RefSeq proteins for LMP002816 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
13929462 RefSeq NP_001488 398 beta-1,4-galactosyltransferase 1

Identical Sequences to LMP002816 proteins

Reference Database Accession Length Protein Name
GI:13929462 GenBank AED39172.1 398 Sequence 1153 from patent US 7883858
GI:13929462 GenBank AEU51299.1 398 Sequence 2 from patent US 8058508
GI:13929462 GenBank AFC00573.1 398 Sequence 10 from patent US 8119770
GI:13929462 GenBank AGF19291.1 398 Sequence 16 from patent US 8367374
GI:13929462 GenBank AGU07400.1 398 Sequence 10 from patent US 8481487
GI:13929462 GenBank AHD80055.1 398 Sequence 31520 from patent US 8586006

Related Sequences to LMP002816 proteins

Reference Database Accession Length Protein Name
GI:13929462 EMBL CAA31611.1 398 N-acetylglucosamide-(beta 1-4)-galactosyltransferase [Homo sapiens]
GI:13929462 EMBL CAA02401.1 767 GALACTOSYLTRANSFERASE-SIALYLTRANSFERASE HYBRID PROTEIN [unidentified]
GI:13929462 EMBL CAA02402.1 767 GALACTOSYLTRANSFERASE-SIALYLTRANSFERASE HYBRID PROTEIN [unidentified]
GI:13929462 pat US 767 Sequence 6 from patent US 5641668
GI:13929462 pat US 767 Sequence 8 from patent US 5641668
GI:13929462 RefSeq XP_004047969.1 398 PREDICTED: beta-1,4-galactosyltransferase 1 [Gorilla gorilla gorilla]