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

    Gene ID: 2683, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    B4GALT1-congenital disorder of glycosylation 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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC50983, DKFZp686N19253

    Gene Ontology Provided by GOA

    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
     

    General protein information

    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)

    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_008919.2 RefSeqGene

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

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AL161445
      UniProtKB/TrEMBL
      B4DLB8
      Conserved Domains (1) summary
      cd00899
      Location:162380
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    2. NM_001378496.1NP_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:175352
      b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
    3. NM_001378497.1NP_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:130216
      Glyco_transf_7N; N-terminal region of glycosyl transferase group 7
    4. NM_001497.4NP_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:175393
      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_047423231.1XP_047279187.1  beta-1,4-galactosyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R710, D3DRL2, P15291, Q12909, Q12910, Q12911, Q14456, Q14509, Q14523
      UniProtKB/TrEMBL
      B4DLB8
    2. XM_047423232.1XP_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_054362743.1XP_054218718.1  beta-1,4-galactosyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      B7ZAH9
    2. XM_054362742.1XP_054218717.1  beta-1,4-galactosyltransferase 1 isoform X3

      UniProtKB/TrEMBL
      W6MEN4