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A4galt alpha 1,4-galactosyltransferase [ Mus musculus (house mouse) ]

Gene ID: 239559, updated on 4-May-2024

Summary

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Official Symbol
A4galtprovided by MGI
Official Full Name
alpha 1,4-galactosyltransferaseprovided by MGI
Primary source
MGI:MGI:3512453
See related
Ensembl:ENSMUSG00000047878 AllianceGenome:MGI:3512453
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
Expression
Biased expression in ovary adult (RPKM 35.6), bladder adult (RPKM 35.2) and 14 other tissues See more
Orthologs
human all
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Genomic context

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Location:
15 E1; 15 39.4 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (83110923..83135930, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (83226722..83251729, complement)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene RNA U12, small nuclear Neighboring gene cytochrome b5 reductase 3 Neighboring gene STARR-positive B cell enhancer ABC_E4142 Neighboring gene STARR-seq mESC enhancer starr_39316 Neighboring gene STARR-seq mESC enhancer starr_39317 Neighboring gene STARR-seq mESC enhancer starr_39321 Neighboring gene STARR-positive B cell enhancer ABC_E5503 Neighboring gene RIKEN cDNA C130064B19 gene Neighboring gene predicted gene, 32886

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Deletion of Gb3 Synthase in Mice Resulted in the Attenuation of Bone Formation via Decrease in Osteoblasts. Hamamura K, et al. Int J Mol Sci, 2019 Sep 18. PMID 31540393, Free PMC Article
  2. The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection. Gao S, et al. Virulence, 2020 Dec. PMID 32507026, Free PMC Article
  3. [Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function]. Porubsky S, et al. Pathologe, 2008 Nov. PMID 18810447
  4. Murine glycosyltransferases responsible for the expression of globo-series glycolipids: cDNA structures, mRNA expression, and distribution of their products. Fujii Y, et al. Glycobiology, 2005 Dec. PMID 16079416
  5. Direct acute tubular damage contributes to Shigatoxin-mediated kidney failure. Porubsky S, et al. J Pathol, 2014 Sep. PMID 24909663, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.
    Title: The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.
  2. The deficiency of Gb3 synthase in mice decreased the number of osteoblasts on the bone surface, and suppressed mRNA levels of osteogenic differentiation markers.
    Title: Deletion of Gb3 Synthase in Mice Resulted in the Attenuation of Bone Formation via Decrease in Osteoblasts.
  3. Verification of the function of Gb3 in the pathogenesis of hemolytic-uremic syndrome as the cellular receptor responsible for cytotoxicity caused by verotoxin (VT) elaborated by Shigella and certain strains of E.coli.
    Title: [Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function].
  4. Gb3 and Gb4 synthase are responsible for the expression of globo-series glycolipids
    Title: Murine glycosyltransferases responsible for the expression of globo-series glycolipids: cDNA structures, mRNA expression, and distribution of their products.
  5. Gb3/CD77 synthase has a role in synthesis of globo-series glycosphingolipids and sensitivity to verotoxins
    Title: Targeted disruption of Gb3/CD77 synthase gene resulted in the complete deletion of globo-series glycosphingolipids and loss of sensitivity to verotoxins.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables galactosyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables lactosylceramide 4-alpha-galactosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables lactosylceramide 4-alpha-galactosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables toxic substance binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within globoside biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within globoside biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within plasma membrane organization ISO
Inferred from Sequence Orthology
more info
  
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
lactosylceramide 4-alpha-galactosyltransferase
Names
Gb3 synthase
Gb3/CD77 synthase
UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase
alpha-1,4-N-acetylglucosaminyltransferase
alpha4Gal-T1
globotriaosylceramide synthase
NP_001004150.2
NP_001164425.2
NP_001357576.1
NP_001403027.1
XP_036015295.1

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.

mRNA and Protein(s)

  1. NM_001004150.4 → NP_001004150.2  lactosylceramide 4-alpha-galactosyltransferase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AL591952
    UniProtKB/TrEMBL
    Q0R0H6, Q3TRS1
    Related
    ENSMUSP00000057999.7, ENSMUST00000049530.14
    Conserved Domains (2) summary
    pfam04488
    Location:89 → 209
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:222 → 344
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

  2. NM_001170954.2 → NP_001164425.2  lactosylceramide 4-alpha-galactosyltransferase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AL591952
    UniProtKB/TrEMBL
    Q0R0H6, Q3TRS1
    Related
    ENSMUSP00000129719.2, ENSMUST00000164614.3
    Conserved Domains (2) summary
    pfam04488
    Location:89 → 209
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:222 → 344
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

  3. NM_001370647.1 → NP_001357576.1  lactosylceramide 4-alpha-galactosyltransferase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AL591952
    UniProtKB/TrEMBL
    Q0R0H6, Q3TRS1
    Conserved Domains (2) summary
    pfam04488
    Location:89 → 209
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:222 → 344
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

  4. NM_001416098.1 → NP_001403027.1  lactosylceramide 4-alpha-galactosyltransferase

    Status: REVIEWED

    Source sequence(s)
    AL591952
    UniProtKB/TrEMBL
    Q0R0H6

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    83110923..83135930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036159402.1 → XP_036015295.1  lactosylceramide 4-alpha-galactosyltransferase isoform X1

    UniProtKB/Swiss-Prot
    Q67BJ4
    UniProtKB/TrEMBL
    Q3TRS1, Q3UF00
    Conserved Domains (2) summary
    pfam04488
    Location:100 → 220
    Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif
    pfam04572
    Location:233 → 355
    Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q67BJ4.1 GenPept UniProtKB/Swiss-Prot:Q67BJ4

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