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

Gene ID: 2683, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See B4GALT1 in Genome Data Viewer
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_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3987 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33025301-33025895 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:33043981-33044482 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene SMU1 DNA replication regulator and spliceosomal factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33111589-33112188 Neighboring gene microRNA 12117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28273 Neighboring gene uncharacterized LOC124902141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33161108-33162102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:33163497-33163996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33167185-33167750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33167751-33168315 Neighboring gene B4GALT1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:33172776-33173276 Neighboring gene RNA, U4atac small nuclear 15, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28287 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:33233401-33234600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19833 Neighboring gene serine peptidase inhibitor Kazal type 4 Neighboring gene BAG cochaperone 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Mutational analysis of the cytoplasmic domain of beta1,4-galactosyltransferase I: influence of phosphorylation on cell surface expression. Hathaway HJ, et al. J Cell Sci, 2003 Nov 1. PMID 12966167
  2. Increased B4GALT1 expression associates with adverse outcome in patients with non-metastatic clear cell renal cell carcinoma. Xie H, et al. Oncotarget, 2016 May 31. PMID 27092876, Free PMC Article
  3. β-1,4-galactosyltransferase-I activates proliferation and participates in intercellular contacts of lymphocytes. Sun X, et al. Hum Immunol, 2014 Oct. PMID 25223470
  4. Estrogen induced β-1,4-galactosyltransferase 1 expression regulates proliferation of human breast cancer MCF-7 cells. Choi HJ, et al. Biochem Biophys Res Commun, 2012 Oct 5. PMID 22982306
  5. Aberrant promoter methylation of beta-1,4 galactosyltransferase 1 as potential cancer-specific biomarker of colorectal tumors. Poeta ML, et al. Genes Chromosomes Cancer, 2012 Dec. PMID 22927297

See all (113) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
    Title: Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
  8. 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).
  9. 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.
  10. 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
Compare labs
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
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • MGC50983, DKFZp686N19253

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 PubMed 
located_in extracellular space HDA PubMed 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA 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
NP_001365425.1
NP_001365426.1
NP_001488.2
XP_047279187.1
XP_047279188.1
XP_054218717.1
XP_054218718.1

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

  1. NG_008919.2 RefSeqGene

    Range
    22753..79447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    33104077..33185089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_047423232.1 → XP_047279188.1  beta-1,4-galactosyltransferase 1 isoform X2

    UniProtKB/TrEMBL
    B7ZAH9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    33120636..33185969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B7ZAH9

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15291.5 GenPept UniProtKB/Swiss-Prot:P15291

Gene LinkOut

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