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B4GALT3 beta-1,4-galactosyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 8703, updated on 3-Apr-2024

Summary

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Official Symbol
B4GALT3provided by HGNC
Official Full Name
beta-1,4-galactosyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:926
See related
Ensembl:ENSG00000158850 MIM:604014; AllianceGenome:HGNC:926
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
beta4Gal-T3
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 encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in placenta (RPKM 11.2), testis (RPKM 11.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161171310..161177968, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160308766..160315427, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161141100..161147758, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:161123368-161124567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1470 Neighboring gene ubiquitin-fold modifier conjugating enzyme 1 Neighboring gene ubiquitin specific peptidase 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161137271-161137934 Neighboring gene protoporphyrinogen oxidase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1471 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161146985-161147484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161148623-161149124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1983 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161162728-161163541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161166678-161167583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161170109-161170830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1985 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161187006-161187992 Neighboring gene Fc epsilon receptor Ig

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
  • 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. B4GALT3 promotes cell proliferation and invasion in glioblastoma. Wu T, et al. Neurol Res, 2020 Jun. PMID 32202233
  2. Circular RNA circUBXN7 represses cell growth and invasion by sponging miR-1247-3p to enhance B4GALT3 expression in bladder cancer. Liu H, et al. Aging (Albany NY), 2018 Oct 12. PMID 30312173, Free PMC Article
  3. Tumor-derived exosomal miR-1247-3p induces cancer-associated fibroblast activation to foster lung metastasis of liver cancer. Fang T, et al. Nat Commun, 2018 Jan 15. PMID 29335551, Free PMC Article
  4. Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma. Liao RF, et al. Chin Med J (Engl), 2016 Dec 5. PMID 27900994, Free PMC Article
  5. B4GALT3 up-regulation by miR-27a contributes to the oncogenic activity in human cervical cancer cells. Sun Y, et al. Cancer Lett, 2016 Jun 1. PMID 26987623

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long noncoding RNA differentiation antagonizing nonprotein coding RNA promotes the proliferation, invasion and migration of neuroblastoma cells via targeting beta-1, 4-galactosyltransferase III by sponging miR-338-3p.
    Title: Long noncoding RNA differentiation antagonizing nonprotein coding RNA promotes the proliferation, invasion and migration of neuroblastoma cells via targeting β-1, 4-galactosyltransferase III by sponging miR-338-3p.
  2. B4GALT3 promotes cell proliferation and invasion in glioblastoma.
    Title: B4GALT3 promotes cell proliferation and invasion in glioblastoma.
  3. In bladder tumor cells circUBXN7 serves as a competitive endogenous RNA of miR-1247-3p to elevate B4GALT3 expression, consequently inhibiting cell viability and invasion.
    Title: Circular RNA circUBXN7 represses cell growth and invasion by sponging miR-1247-3p to enhance B4GALT3 expression in bladder cancer.
  4. These findings suggest that the transcription of the b4GalT3 gene is regulated by differential DNA binding of Sp3 and Sp1 in neuroblastoma and lung cancer. The increased expression of b4GalT3 in neuroblastoma may be ascribed to the enhanced expression of Sp3, which is observed for various cancers.
    Title: Transcription of human β4-galactosyltransferase 3 is regulated by differential DNA binding of Sp1/Sp3 in SH-SY5Y human neuroblastoma and A549 human lung cancer cell lines.
  5. High-metastatic hepatocellular carcinoma cells secrete exosomal miR-1247-3p that directly targets B4GALT3, leading to activation of beta1-integrin-NF-kappaappaB metastatic signaling in fibroblasts resulting in lung cancer.
    Title: Tumor-derived exosomal miR-1247-3p induces cancer-associated fibroblast activation to foster lung metastasis of liver cancer.
  6. The mutations c.1456C < T (p.L486F) in MYOC and c.322G < A (p.V108I) in B4GALT3 are likely responsible for the pathogenesis of Primary Open-angle Glaucoma in this family.
    Title: Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma.
  7. our findings evidenced that B4GALT3 upregulated by miR-27a contributes to the tumorigenic activities by b1-integrin pathway and might provide potential biomarkers for cervical cancer.
    Title: B4GALT3 up-regulation by miR-27a contributes to the oncogenic activity in human cervical cancer cells.
  8. Data suggest that expression of B4GALT3 in placenta is up-regulated in third trimester; over-expression of B4GALT3 in cultured trophoblasts suppresses cell migration; thus, B4GALT3 appears to regulate trophoblast invasion in late stages of pregnancy.
    Title: β-1,4-Galactosyltransferase III suppresses extravillous trophoblast invasion through modifying β1-integrin glycosylation.
  9. beta-1,4-Galactosyltransferase III suppresses beta1 integrin-mediated invasive phenotypes and negatively correlates with metastasis in colorectal cancer.
    Title: β-1,4-Galactosyltransferase III suppresses β1 integrin-mediated invasive phenotypes and negatively correlates with metastasis in colorectal cancer.
  10. beta-1,4-Galactosyltransferase III enhances invasive phenotypes via beta1-integrin and predicts poor prognosis in neuroblastoma.
    Title: β-1,4-Galactosyltransferase III enhances invasive phenotypes via β1-integrin and predicts poor prognosis in neuroblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyllactosamine synthase activity IEA
Inferred from Electronic Annotation
more info
  
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables galactosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in galactosylceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in galactosylceramide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein glycosylation 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
  
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
beta-1,4-galactosyltransferase 3
Names
N-acetyllactosamine synthase
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 3
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 3
b4Gal-T3
beta-1,4-GalTase 3
beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 3
beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
epididymis secretory sperm binding protein
nal synthase
neolactotriaosylceramide beta-1,4-galactosyltransferase
NP_001186802.1
NP_001186803.1
NP_003770.1
XP_005245623.1
XP_011508395.1
XP_016858203.1
XP_024306308.1
XP_024306309.1
XP_047289355.1
XP_047289357.1
XP_047289358.1
XP_054195372.1
XP_054195373.1
XP_054195374.1
XP_054195375.1
XP_054195376.1
XP_054195377.1
XP_054195378.1
XP_054195379.1

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_011480.1 RefSeqGene

    Range
    5018..11215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199873.1 → NP_001186802.1  beta-1,4-galactosyltransferase 3

    See identical proteins and their annotated locations for NP_001186802.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK291455, AL590714, BC006099, DC339671
    Consensus CDS
    CCDS1222.1
    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44, Q71VA3
    Related
    ENSP00000480428.1, ENST00000622395.4
    Conserved Domains (1) summary
    cd00899
    Location:122 → 341
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  2. NM_001199874.1 → NP_001186803.1  beta-1,4-galactosyltransferase 3

    See identical proteins and their annotated locations for NP_001186803.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal segment in the 5' UTR, and encodes the same protein, as compared to variant 1.
    Source sequence(s)
    AK291455, BC006099, BC009985, DC339671
    Consensus CDS
    CCDS1222.1
    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44, Q71VA3
    Related
    ENSP00000356977.1, ENST00000367998.5
    Conserved Domains (1) summary
    cd00899
    Location:122 → 341
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  3. NM_003779.4 → NP_003770.1  beta-1,4-galactosyltransferase 3

    See identical proteins and their annotated locations for NP_003770.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 5' UTR, and encodes the same protein, as compared to variant 1.
    Source sequence(s)
    AK291455, BC006099, DC339671
    Consensus CDS
    CCDS1222.1
    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44, Q71VA3
    Related
    ENSP00000320965.5, ENST00000319769.10
    Conserved Domains (1) summary
    cd00899
    Location:122 → 341
    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161171310..161177968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510093.3 → XP_011508395.1  beta-1,4-galactosyltransferase 3 isoform X2

    Conserved Domains (1) summary
    cd00899
    Location:122 → 303
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  2. XM_017002714.3 → XP_016858203.1  beta-1,4-galactosyltransferase 3 isoform X2

    Conserved Domains (1) summary
    cd00899
    Location:122 → 303
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  3. XM_047433401.1 → XP_047289357.1  beta-1,4-galactosyltransferase 3 isoform X2

  4. XM_005245566.3 → XP_005245623.1  beta-1,4-galactosyltransferase 3 isoform X1

    See identical proteins and their annotated locations for XP_005245623.1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44, Q71VA3
    Conserved Domains (1) summary
    cd00899
    Location:122 → 341
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  5. XM_047433402.1 → XP_047289358.1  beta-1,4-galactosyltransferase 3 isoform X2

  6. XM_024450540.2 → XP_024306308.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44, Q71VA3
    Conserved Domains (1) summary
    cd00899
    Location:122 → 341
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  7. XM_047433399.1 → XP_047289355.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44

  8. XM_024450541.2 → XP_024306309.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44, Q71VA3
    Conserved Domains (1) summary
    cd00899
    Location:122 → 341
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160308766..160315427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339397.1 → XP_054195372.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44

  2. XM_054339401.1 → XP_054195376.1  beta-1,4-galactosyltransferase 3 isoform X2

  3. XM_054339402.1 → XP_054195377.1  beta-1,4-galactosyltransferase 3 isoform X2

  4. XM_054339398.1 → XP_054195373.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44

  5. XM_054339399.1 → XP_054195374.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44

  6. XM_054339400.1 → XP_054195375.1  beta-1,4-galactosyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    D3DVG3, O60512, O60910, Q9BPZ4, Q9H8T2
    UniProtKB/TrEMBL
    A0A384NY44

  7. XM_054339403.1 → XP_054195378.1  beta-1,4-galactosyltransferase 3 isoform X2

  8. XM_054339404.1 → XP_054195379.1  beta-1,4-galactosyltransferase 3 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60512.2 GenPept UniProtKB/Swiss-Prot:O60512

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