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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
    mouse all
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    Genomic context

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    See B4GALT3 in Genome Data Viewer
    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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    NEW Try the new Transcript table

    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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