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    A3galt2 alpha 1,3-galactosyltransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 215493, updated on 27-Nov-2024

    Summary

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    Official Symbol
    A3galt2provided by MGI
    Official Full Name
    alpha 1,3-galactosyltransferase 2provided by MGI
    Primary source
    MGI:MGI:2685279
    See related
    Ensembl:ENSMUSG00000028794 AllianceGenome:MGI:2685279
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    iGb3; Gm433; iGb3S
    Summary
    Enables alpha-1,3-galactosyltransferase activity. Acts upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be active in Golgi apparatus and vesicle. Orthologous to human A3GALT2 (alpha 1,3-galactosyltransferase 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in whole brain E14.5 (RPKM 1.3), CNS E14 (RPKM 1.1) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See A3galt2 in Genome Data Viewer
    Location:
    4 D2.2; 4 62.23 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (128653051..128663091)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (128759258..128769298)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11455 Neighboring gene predicted gene 12958 Neighboring gene STARR-positive B cell enhancer ABC_E9239 Neighboring gene polyhomeotic 2 Neighboring gene STARR-positive B cell enhancer ABC_E6219 Neighboring gene VISTA enhancer mm1684 Neighboring gene STARR-seq mESC enhancer starr_11460 Neighboring gene predicted gene, 33712 Neighboring gene STARR-positive B cell enhancer ABC_E9595 Neighboring gene STARR-positive B cell enhancer ABC_E3514 Neighboring gene zinc finger protein 362 Neighboring gene STARR-seq mESC enhancer starr_11464 Neighboring gene predicted gene, 52679 Neighboring gene STARR-positive B cell enhancer ABC_E6220 Neighboring gene STARR-seq mESC enhancer starr_11466 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

    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. Normal development and function of invariant natural killer T cells in mice with isoglobotrihexosylceramide (iGb3) deficiency. Porubsky S, et al. Proc Natl Acad Sci U S A, 2007 Apr 3. PMID 17372206, Free PMC Article
    2. [Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function]. Porubsky S, et al. Pathologe, 2008 Nov. PMID 18810447
    3. Aggression in cataract-bearing alpha-1,3-galactosyltransferase knockout mice. Sørensen DB, et al. Lab Anim, 2008 Jan. PMID 18348765
    4. The molecular basis for galalpha(1,3)gal expression in animals with a deletion of the alpha1,3galactosyltransferase gene. Milland J, et al. J Immunol, 2006 Feb 15. PMID 16456004
    5. Targeted disruption of Gb3/CD77 synthase gene resulted in the complete deletion of globo-series glycosphingolipids and loss of sensitivity to verotoxins. Okuda T, et al. J Biol Chem, 2006 Apr 14. PMID 16476743

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular cloning and functional analysis of mouse iGb3 synthase in mouse thymus, with its enzyme-synthesized product verified by NMR spectrum.
      Title: Lysosomal glycosphingolipid recognition by NKT cells.
    2. Investigation in vivo the previously implicated function of iGb3 as the endogenous lipid ligand responsible for positive selection of invariant natural killer T-cells.
      Title: [Glycosphingolipids Gb3 and iGb3. In vivo roles in hemolytic-uremic syndrome and iNKT cell function].
    3. A study evaluating aggressive behavior associated with cataract formation in mice with a knockout at this enzyme site is reported.
      Title: Aggression in cataract-bearing alpha-1,3-galactosyltransferase knockout mice.
    4. Invariant natural killer T cells with A3galt2 deficiency had normal development and function.
      Title: Normal development and function of invariant natural killer T cells in mice with isoglobotrihexosylceramide (iGb3) deficiency.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (1)  1 citation

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N-acetyllactosaminide 3-alpha-galactosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables N-acetyllactosaminide 3-alpha-galactosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables alpha-1,3-galactosyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables alpha-1,3-galactosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to manganese ion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within glycosphingolipid biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within glycosphingolipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycosphingolipid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycosphingolipid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lipid glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    alpha-1,3-galactosyltransferase 2
    Names
    alpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide synthase)
    iGb3 synthase
    NP_001009819.1

    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_001009819.2 → NP_001009819.1  alpha-1,3-galactosyltransferase 2

      See identical proteins and their annotated locations for NP_001009819.1

      Status: VALIDATED

      Source sequence(s)
      AK132334
      Consensus CDS
      CCDS18675.1
      UniProtKB/Swiss-Prot
      B2KGX5, B2KGX6, M9MMK2, Q3V1N9
      Related
      ENSMUSP00000030585.8, ENSMUST00000030585.8
      Conserved Domains (1) summary
      cd02515
      Location:98 → 369
      Glyco_transf_6; Glycosyltransferase family 6 comprises enzymes responsible for the production of the human ABO blood group antigens

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      128653051..128663091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V1N9.1 GenPept UniProtKB/Swiss-Prot:Q3V1N9

    Gene LinkOut

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

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