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

Gene ID: 2683, updated on 6-Sep-2021

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
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; 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

See B4GALT1 in Genome Data Viewer
Location:
9p21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (33104077..33167336, complement)
105.20201022 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 DnaJ heat shock protein family (Hsp40) member A1 Neighboring gene SMU1 DNA replication regulator and spliceosomal factor Neighboring gene microRNA 12117 Neighboring gene B4GALT1 antisense RNA 1 Neighboring gene RNA, U4atac small nuclear 15, pseudogene Neighboring gene serine peptidase inhibitor Kazal type 4

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-CDG Compare labs
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

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

Homology

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 extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in galactose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lactose biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population 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 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
PubMed 
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

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_008919.1 RefSeqGene

    Range
    5001..61718
    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
    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
    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
    Related
    ENSP00000440341.1, ENST00000535206.5
    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
    P15291
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    33104077..33167336 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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