B4GALT1 beta-1,4-galactosyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GALT1provided by HGNC
Official Full Name: beta-1,4-galactosyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:924
See related: Ensembl:ENSG00000086062 MIM:137060; AllianceGenome:HGNC:924
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; CLDLFIB; 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]
Expression: Ubiquitous expression in thyroid (RPKM 45.3), gall bladder (RPKM 35.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33104077..33185089, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33120636..33185969, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33104075..33167334, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.
Title: Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study.
In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.
Title: In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.
B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.
Title: B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Title: Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Increased B4GALT1 expression is associated with platelet surface galactosylation and thrombopoietin plasma levels in MPNs.
Title: Increased B4GALT1 expression is associated with platelet surface galactosylation and thrombopoietin plasma levels in MPNs.
B4GalT1 Regulates Apoptosis and Autophagy of Glioblastoma In Vitro and In Vivo.
Title: B4GalT1 Regulates Apoptosis and Autophagy of Glioblastoma In Vitro and In Vivo.
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Title: Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110).
Title: Galactosyltransferase B4GALT1 confers chemoresistance in pancreatic ductal adenocarcinomas by upregulating N-linked glycosylation of CDK11(p110).
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Title: B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
The AKR1C3/AR-V7 complex maintains CRPC tumour growth by repressing B4GALT1 expression.
Title: The AKR1C3/AR-V7 complex maintains CRPC tumour growth by repressing B4GALT1 expression.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
B4GALT1-congenital disorder of glycosylation MedGen: C2931009 OMIM: 607091 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	not available
Combined low LDL and fibrinogen MedGen: C5830484 OMIM: 620364 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC150909P1 (e-PCR)
- UniSTS:271121

G59840 (e-PCR)
- UniSTS:136989

A006S33 (e-PCR)
- UniSTS:35649

RH17851 (e-PCR)
- UniSTS:76104

D9S1788 (e-PCR)
- UniSTS:13644

SHGC-150820 (e-PCR)
- UniSTS:173646

D9S1845 (e-PCR), detects polymorphism
- UniSTS:22896

PMC16394P1 (e-PCR)
- UniSTS:271480

SHGC-31076 (e-PCR)
- UniSTS:27780

D9S1705 (e-PCR)
- UniSTS:75183

RH16521 (e-PCR)
- UniSTS:12528

RH122271 (e-PCR)
- UniSTS:134897

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyllactosamine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alpha-tubulin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	TAS Traceable Author Statement more info
enables beta-tubulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables galactosyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lactose synthase activity	EXP Inferred from Experiment more info	PubMed
enables lactose synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables manganese ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acute inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis involved in wound healing	IEA Inferred from Electronic Annotation more info
involved_in binding of sperm to zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in development of secondary sexual characteristics	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in galactose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lactose biosynthetic process	TAS Traceable Author Statement more info
involved_in lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in macrophage migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in oligosaccharide biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in penetration of zona pellucida	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of circulating fibrinogen levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial cell proliferation involved in wound healing	IEA Inferred from Electronic Annotation more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of acrosome reaction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in Golgi trans cisterna	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in filopodium	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-1,4-galactosyltransferase 1

Names: N-acetyllactosamine synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1; beta-1,4-GalTase 1; beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase; beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase; glycoprotein-4-beta-galactosyltransferase 2; lactose synthase A protein; nal synthase; neolactotriaosylceramide beta-1,4-galactosyltransferase

NP_001365424.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

NP_001365425.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

NP_001365426.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

NP_001488.2

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

XP_047279187.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

XP_047279188.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

XP_054218717.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

XP_054218718.1

EC 2.4.1.22

EC 2.4.1.275

EC 2.4.1.38

EC 2.4.1.90

NCBI Reference Sequences (RefSeq)

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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_008919.2 RefSeqGene

Range

22753..79447

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001378495.1 → NP_001365424.1 beta-1,4-galactosyltransferase 1 isoform 2

Status: REVIEWED

Source sequence(s)

AL161445

UniProtKB/TrEMBL

B4DLB8

Conserved Domains (1) summary

cd00899
Location:162 → 380

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
NM_001378496.1 → NP_001365425.1 beta-1,4-galactosyltransferase 1 isoform 3

Status: REVIEWED

Source sequence(s)

AL161445

UniProtKB/TrEMBL

B4DLB8, W6MEN3

Conserved Domains (1) summary

cd00899
Location:175 → 352

b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
NM_001378497.1 → NP_001365426.1 beta-1,4-galactosyltransferase 1 isoform 4

Status: REVIEWED

Source sequence(s)

AL161445

Consensus CDS

CCDS94396.1

UniProtKB/TrEMBL

Q86XA6, W6MEN4

Related

ENSP00000440341.1, ENST00000535206.6

Conserved Domains (1) summary

pfam13733
Location:130 → 216

Glyco_transf_7N; N-terminal region of glycosyl transferase group 7
NM_001497.4 → NP_001488.2 beta-1,4-galactosyltransferase 1 isoform 1

See identical proteins and their annotated locations for NP_001488.2

Status: REVIEWED

Source sequence(s)

AL161445

Consensus CDS

CCDS6535.1

UniProtKB/Swiss-Prot

B2R710, D3DRL2, P15291, Q12909, Q12910, Q12911, Q14456, Q14509, Q14523

UniProtKB/TrEMBL

B4DLB8

Related

ENSP00000369055.4, ENST00000379731.5

Conserved Domains (1) summary

cd00899
Location:175 → 393

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

33104077..33185089 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423231.1 → XP_047279187.1 beta-1,4-galactosyltransferase 1 isoform X1

UniProtKB/Swiss-Prot

B2R710, D3DRL2, P15291, Q12909, Q12910, Q12911, Q14456, Q14509, Q14523
XM_047423232.1 → XP_047279188.1 beta-1,4-galactosyltransferase 1 isoform X2

UniProtKB/TrEMBL

B7ZAH9

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

33120636..33185969 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362743.1 → XP_054218718.1 beta-1,4-galactosyltransferase 1 isoform X2

UniProtKB/TrEMBL

B7ZAH9
XM_054362742.1 → XP_054218717.1 beta-1,4-galactosyltransferase 1 isoform X3