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

Gene ID: 2683, updated on 11-Sep-2019

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

Genomic context

See B4GALT1 in Genome Data Viewer
Location:
9p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (33110641..33167358, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33110636..33167356, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes 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

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA 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 BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Fertilization, organism-specific biosystem (from REACTOME)
    Fertilization, organism-specific biosystemMammalian fertilization comprises sperm migration through the female reproductive tract, biochemical and morphological changes to sperm, and sperm-egg interaction in the oviduct. Although the broad c...
  • Galactose metabolism, organism-specific biosystem (from KEGG)
    Galactose metabolism, organism-specific biosystem
    Galactose metabolism
  • Galactose metabolism, conserved biosystem (from KEGG)
    Galactose metabolism, conserved biosystem
    Galactose metabolism
  • Glycosaminoglycan biosynthesis - keratan sulfate, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - keratan sulfate, organism-specific biosystemKeratan sulfate (KS) is a glycosaminoglycan with the basic disaccharide unit of N-acetyllactosamine, Gal(b1-4)GlcNAc(b1-3), with sulfate esters at C-6 of GlcNAc and Gal residues. There are two types ...
  • Glycosaminoglycan biosynthesis - keratan sulfate, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - keratan sulfate, conserved biosystemKeratan sulfate (KS) is a glycosaminoglycan with the basic disaccharide unit of N-acetyllactosamine, Gal(b1-4)GlcNAc(b1-3), with sulfate esters at C-6 of GlcNAc and Gal residues. There are two types ...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • Glycosphingolipid biosynthesis - lacto and neolacto series, organism-specific biosystem (from KEGG)
    Glycosphingolipid biosynthesis - lacto and neolacto series, organism-specific biosystem
    Glycosphingolipid biosynthesis - lacto and neolacto series
  • Glycosphingolipid biosynthesis - lacto and neolacto series, conserved biosystem (from KEGG)
    Glycosphingolipid biosynthesis - lacto and neolacto series, conserved biosystem
    Glycosphingolipid biosynthesis - lacto and neolacto series
  • Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer, organism-specific biosystem (from KEGG)
    Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer, conserved biosystem (from KEGG)
    Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4Cer, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Interaction With The Zona Pellucida, organism-specific biosystem (from REACTOME)
    Interaction With The Zona Pellucida, organism-specific biosystemThe zona pellucida (ZP), a glycoproteinaceous matrix surrounding the mammalian oocyte plays an important role in species specific sperm-egg binding, induction of acrosome reaction in the ZP bound spe...
  • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
    Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
  • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
    Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
  • Lactose synthesis, organism-specific biosystem (from REACTOME)
    Lactose synthesis, organism-specific biosystemSynthesis of the disaccharide lactose takes place within the Golgi apparatus of epithelial cells of the lactating mammary gland. The synthesis itself is a single chemical reaction of free glucose and...
  • Mannose type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Mannose type O-glycan biosynthesis, organism-specific biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
  • Mannose type O-glycan biosynthesis, conserved biosystem (from KEGG)
    Mannose type O-glycan biosynthesis, conserved biosystemBiosynthesis of mammalian O-mannosyl glycans is initiated by the transfer of mannose from mannose-P-Dol to serine or threonine residue, followed by extensions with N-acetylglucosamine (GlcNAc) and ga...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • N-Glycan antennae elongation, organism-specific biosystem (from REACTOME)
    N-Glycan antennae elongation, organism-specific biosystemN-glycans are further modified after the commitment to Complex or Hybrid N-glycans. The exact structure of the network of metabolic reactions involved is complex and not yet validated experimentally....
  • N-Glycan biosynthesis, organism-specific biosystem (from KEGG)
    N-Glycan biosynthesis, organism-specific biosystemN-glycans or asparagine-linked glycans are major constituents of glycoproteins in eukaryotes. N-glycans are covalently attached to asparagine with the consensus sequence of Asn-X-Ser/Thr by an N-glyc...
  • N-Glycan biosynthesis, conserved biosystem (from KEGG)
    N-Glycan biosynthesis, conserved biosystemN-glycans or asparagine-linked glycans are major constituents of glycoproteins in eukaryotes. N-glycans are covalently attached to asparagine with the consensus sequence of Asn-X-Ser/Thr by an N-glyc...
  • N-glycan antennae elongation in the medial/trans-Golgi, organism-specific biosystem (from REACTOME)
    N-glycan antennae elongation in the medial/trans-Golgi, organism-specific biosystemIn the latter compartments of the distal Golgi the N-Glycan is further modified, leading to the wide range of N-Glycans observed in multicellular organisms. The first step of N-Glycan elongation in t...
  • N-glycan biosynthesis, complex type, organism-specific biosystem (from KEGG)
    N-glycan biosynthesis, complex type, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • N-glycan biosynthesis, complex type, conserved biosystem (from KEGG)
    N-glycan biosynthesis, complex type, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
    Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
  • Reproduction, organism-specific biosystem (from REACTOME)
    Reproduction, organism-specific biosystemHuman reproduction mixes the genomes of two individuals creating a new organism. The offspring individuals produced by sexual reproduction differ from their parents and from their siblings. Reproduct...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....

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
acute inflammatory response IEA
Inferred from Electronic Annotation
more info
 
angiogenesis involved in wound healing IEA
Inferred from Electronic Annotation
more info
 
binding of sperm to zona pellucida TAS
Traceable Author Statement
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
development of secondary sexual characteristics IEA
Inferred from Electronic Annotation
more info
 
epithelial cell development IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
galactose metabolic process IEA
Inferred from Electronic Annotation
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
lactose biosynthetic process TAS
Traceable Author Statement
more info
 
leukocyte migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oligosaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
oligosaccharide biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
penetration of zona pellucida IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation involved in wound healing IEA
Inferred from Electronic Annotation
more info
 
protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of acrosome reaction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi trans cisterna IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule membrane TAS
Traceable Author Statement
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
desmosome IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
filopodium IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
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
lactose synthase A protein
nal synthase
NP_001488.2
XP_005251497.1

NCBI Reference Sequences (RefSeq)

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_001497.3NP_001488.2  beta-1,4-galactosyltransferase 1

    See identical proteins and their annotated locations for NP_001488.2

    Status: REVIEWED

    Source sequence(s)
    AL161445, BU624063, M13701, X55415
    Consensus CDS
    CCDS6535.1
    UniProtKB/Swiss-Prot
    P15291
    Related
    ENSP00000369055.4, ENST00000379731.4
    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 Annotation Release 109 details...Open this link in a new tab

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
    33110641..33167358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251440.5XP_005251497.1  beta-1,4-galactosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_005251497.1

    UniProtKB/TrEMBL
    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
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