B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 [Homo sapiens] - Gene

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Summary

Official Symbol: B4GALT1provided by HGNC
Official Full Name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1provided by HGNC
Primary source: HGNC:924
See related: Ensembl:ENSG00000086062; HPRD:00659; MIM:137060; Vega:OTTHUMG00000019764
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GT1; GTB; CDG2D; GGTB2; B4GAL-T1; beta4Gal-T1
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]

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Genomic context

Location :: 9p13

Sequence :: Chromosome: 9; NC_000009.11 (33110639..33167356, complement)

See B4GALT1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These results suggested that beta1,4-Galactosyltransferase-I may play an important role in the inflammatory processes in synovial tissue of patients with rheumatoid arthritis.
Title: β1,4-Galactosyltransferase-I contributes to the inflammatory processes in synovial tissue of patients with rheumatoid arthritis.
B4GalTI might act as a key adhesion molecule participating in T cell-dendritic cell contacts.
Title: The expression and function of β-1,4-galactosyltransferase-I in dendritic cells.
PKC signal transduction pathway participates in regulating beta-1, 4-GalT-I expression in endothelial cells stimulated by TNF-alpha.
Title: [The role of PKC to TNF-alpha induced beta-1, 4-galactosyltransferase-I expression in endothelial cells].
The mutation of C80S introduces a fully occupied UDP binding site at the enzyme dimer interface that is observed to be dependent on the binding of H antigen acceptor analog.
Title: Cysteine-to-serine mutants dramatically reorder the active site of human ABO(H) blood group B glycosyltransferase without affecting activity: structural insights into cooperative substrate binding.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Golgi N-glycosyltransferases beta-1,2-N-acetylglucosaminyltransferase I, beta-1,2-N-acetylglucosaminyltransferase II, 1,4-galactosyltransferase I, and alpha-2,6-sialyltransferase I form both homo- and heterodimeric enzyme complexes in live cells
Title: Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells.
found that both the long and short isoforms of beta-1,4-GalT-I were expressed in human CD4(+) T lymphocytes, and localized in the cytoplasm and on the plasma membrane.
Title: Expression of beta-1,4-galactosyltransferase-I affects cellular adhesion in human peripheral blood CD4+ T cells.
These results demonstrate that B3GNT1 and B4GALT1 physically associate in vitro and in cultured cells, providing insight into possible mechanisms for regulation of polyLacNAc production.
Title: Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.
Deoxygenated disaccharide analogs as specific inhibitors of beta1-4-galactosyltransferase 1 and selectin-mediated tumor metastasis.
Title: Deoxygenated disaccharide analogs as specific inhibitors of beta1-4-galactosyltransferase 1 and selectin-mediated tumor metastasis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.

Submit: New GeneRIF Correction See all (18)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Congenital disorder of glycosylation, type IId

MIM: 607091

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P15291	P15291	B4GALT1	HPRD	PubMed
P15291	Q9UQ88	CDK11A	HPRD	PubMed
P15291	P00709	LALBA	HPRD	PubMed
P15291	P68366	TUBA4A	HPRD	PubMed
P15291	P07437	TUBB	HPRD	PubMed
BioGRID:108950	BioGRID:199912	B4galt1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108950	BioGRID:609064	CDK11A	BioGRID	PubMed	Reconstituted Complex
BioGRID:108950	BioGRID:110101	LALBA	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
N-acetyllactosamine synthase activity	IDA Inferred from Direct Assay more info	PubMed
UDP-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
beta-tubulin binding	IPI Inferred from Physical Interaction more info	PubMed
cytoskeletal protein binding	IEA Inferred from Electronic Annotation more info
galactosyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
lactose synthase activity	IDA Inferred from Direct Assay more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
transferase activity, transferring glycosyl groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acute inflammatory response	IEA Inferred from Electronic Annotation more info
angiogenesis involved in wound healing	IEA Inferred from Electronic Annotation more info
binding of sperm to zona pellucida	IEA Inferred from Electronic Annotation more info
branching morphogenesis of a tube	IEA Inferred from Electronic Annotation more info
carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
cell adhesion	IEA Inferred from Electronic Annotation more info
cellular protein metabolic process	TAS Traceable Author Statement more info
development of secondary sexual characteristics	IEA Inferred from Electronic Annotation more info
epithelial cell development	IEA Inferred from Electronic Annotation more info
extracellular matrix organization	IEA Inferred from Electronic Annotation more info
galactose metabolic process	IEA Inferred from Electronic Annotation more info
lactose biosynthetic process	IEA Inferred from Electronic Annotation more info
leukocyte migration	IEA Inferred from Electronic Annotation more info
mammary gland development	IEA Inferred from Electronic Annotation more info
negative regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
oligosaccharide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
oligosaccharide biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
penetration of zona pellucida	IEA Inferred from Electronic Annotation more info
positive regulation of apoptosis involved in mammary gland involution	IEA Inferred from Electronic Annotation more info
positive regulation of epithelial cell proliferation involved in wound healing	IEA Inferred from Electronic Annotation more info
post-translational protein modification	TAS Traceable Author Statement more info
protein N-linked glycosylation via asparagine	TAS Traceable Author Statement more info
protein glycosylation	IEA Inferred from Electronic Annotation more info
regulation of acrosome reaction	IEA Inferred from Electronic Annotation more info
regulation of cellular component movement	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
Golgi membrane	TAS Traceable Author Statement more info
Golgi trans cisterna	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
brush border membrane	IDA Inferred from Direct Assay more info	PubMed
desmosome	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
extracellular region	IEA Inferred from Electronic Annotation more info
glycocalyx	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: beta-1,4-galactosyltransferase 1

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

NP_001488.2

EC 2.4.1.22

EC 2.4.1.38

EC 2.4.1.90

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008919.1 RefSeqGene

Range

5001..61718

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001497.3 → NP_001488.2 beta-1,4-galactosyltransferase 1

Status: REVIEWED

Source sequence(s)

AL161445, BU624063, M13701, X55415

Consensus CDS

CCDS6535.1

UniProtKB/Swiss-Prot

P15291

Related

ENSP00000369055, OTTHUMP00000021196, ENST00000379731, OTTHUMT00000052039

Conserved Domains (1) summary

cd00899
Location:175 – 393
Blast Score: 1049

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

33110639..33167356, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

33068632..33125120, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL161445.10	CAD13306.1
genomic	CH471071.2	EAW58520.1
		EAW58521.1
genomic	GM603708.1	CAT03462.1
genomic	M70432.1	AAB00776.1
mRNA	AK296928.1	BAG59480.1
mRNA	AK297541.1	BAG59940.1
mRNA	AK312797.1	BAG35657.1
mRNA	AK316294.1	BAH14665.1
mRNA	AY864848.1	None
mRNA	BC034244.1	None
mRNA	BC035442.1	None
mRNA	BC045773.1	AAH45773.1
mRNA	BU624063.1	None
mRNA	BX648438.1	None
mRNA	D29805.1	BAA06188.1
mRNA	M13701.1	AAA35935.1
mRNA	M22921.1	AAA35936.1
		AAA35937.1
mRNA	U10472.1	AAA68218.1
mRNA	U10473.1	AAA68219.1
mRNA	U10474.1	AAA68220.1
mRNA	X13223.1	CAA31611.1
mRNA	X14085.1	CAA32247.1
mRNA	X55415.1	CAA39073.1
		CAA39074.1
mRNA	A23697.1	CAA01685.1