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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

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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