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    Gcnt1 glucosaminyl (N-acetyl) transferase 1, core 2 [ Mus musculus (house mouse) ]

    Gene ID: 14537, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Gcnt1provided by MGI
    Official Full Name
    glucosaminyl (N-acetyl) transferase 1, core 2provided by MGI
    Primary source
    MGI:MGI:95676
    See related
    Ensembl:ENSMUSG00000038843 AllianceGenome:MGI:95676
    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
    IGnT; C2GNT; C2GnT-L; C2GlcNAcT; B130048E03; C2 GlcNAcT; 5630400D21Rik
    Summary
    Predicted to enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity. Acts upstream of or within kidney morphogenesis and tissue morphogenesis. Predicted to be located in Golgi cisterna; extracellular space; and trans-Golgi network. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; sensory organ; and skeleton. Orthologous to human GCNT1 (glucosaminyl (N-acetyl) transferase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney adult (RPKM 36.0), liver E14 (RPKM 9.3) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    19 B; 19 12.75 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (17303505..17350208, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (17326141..17372844, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32341 Neighboring gene STARR-seq mESC enhancer starr_45670 Neighboring gene STARR-seq mESC enhancer starr_45671 Neighboring gene prune homolog 2 Neighboring gene STARR-seq mESC enhancer starr_45673 Neighboring gene STARR-seq mESC enhancer starr_45676 Neighboring gene STARR-positive B cell enhancer ABC_E4271 Neighboring gene STARR-seq mESC enhancer starr_45678 Neighboring gene STARR-seq mESC enhancer starr_45679 Neighboring gene STARR-seq mESC enhancer starr_45680 Neighboring gene STARR-positive B cell enhancer ABC_E3246 Neighboring gene riboflavin kinase Neighboring gene proprotein convertase subtilisin/kexin type 5 Neighboring gene predicted gene, 41813

    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. Deficiency in the glycosyltransferase Gcnt1 increases susceptibility to tuberculosis through a mechanism involving neutrophils. Fonseca KL, et al. Mucosal Immunol, 2020 Sep. PMID 32203062, Free PMC Article
    2. Core 2 ß1,6-N-acetylglucosaminyltransferase-I, crucial for P-selectin ligand expression is controlled by a distal enhancer regulated by STAT4 and T-bet in CD4+ T helper cells 1. Mardahl M, et al. Mol Immunol, 2016 Sep. PMID 27505708
    3. X-ray crystal structure of leukocyte type core 2 beta1,6-N-acetylglucosaminyltransferase. Evidence for a convergence of metal ion-independent glycosyltransferase mechanism. Pak JE, et al. J Biol Chem, 2006 Sep 8. PMID 16829524
    4. Core 2 oligosaccharides mediate eosinophil and neutrophil peritoneal but not lung recruitment. Broide DH, et al. Am J Physiol Lung Cell Mol Physiol, 2002 Feb. PMID 11792630
    5. Severe impairment of leukocyte rolling in venules of core 2 glucosaminyltransferase-deficient mice. Sperandio M, et al. Blood, 2001 Jun 15. PMID 11389021

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency in the glycosyltransferase Gcnt1 increases susceptibility to tuberculosis through a mechanism involving neutrophils.
      Title: Deficiency in the glycosyltransferase Gcnt1 increases susceptibility to tuberculosis through a mechanism involving neutrophils.
    2. we show that Gcnt1 transcription and subsequent P-lselectin ligand induction in Th1 cells is governed by binding of STAT4 and T-bet to a distal enhancer and further regulated by epigenetic marks such as H3K27me3.
      Title: Core 2 ß1,6-N-acetylglucosaminyltransferase-I, crucial for P-selectin ligand expression is controlled by a distal enhancer regulated by STAT4 and T-bet in CD4+ T helper cells 1.
    3. simultaneous deletion of the Core2 beta1,6-N-acetylglucosaminyltransferase (C2GnT) enzymes C2GnT1 and C2Gnt2 resulted in delayed expulsion of worms.
      Title: Requirement for core 2 O-glycans for optimal resistance to helminth infection.
    4. striking differences between the requirement of FucT-VII and C2GlcNAcT-I for Ligands for E-selectin and P-selectin expression in CD4+ T cells.
      Title: Differential regulation and impact of fucosyltransferase VII and core 2 β1,6-N-acetyl-glycosaminyltransferase for generation of E-selectin and P-selectin ligands in murine CD4+ T cells.
    5. Core2 O-glycan structure is essential for expression of SI and DDP-IV during intestinal cell differentiation.
      Title: Core2 O-glycan structure is essential for the cell surface expression of sucrase isomaltase and dipeptidyl peptidase-IV during intestinal cell differentiation.
    6. Core2 1-6-N-glucosaminyltransferase-I deficiency protects injured arteries from neointima formation in ApoE-deficient mice
      Title: Core2 1-6-N-glucosaminyltransferase-I deficiency protects injured arteries from neointima formation in ApoE-deficient mice.
    7. Core2 1-6-N-glucosaminyltransferase-I is crucial for the formation of atherosclerotic lesions in apolipoprotein E-deficient mice.
      Title: Core2 1-6-N-glucosaminyltransferase-I is crucial for the formation of atherosclerotic lesions in apolipoprotein E-deficient mice.
    8. Pancreas carcinoma antigen, C2GnT, fused to invariant chain elicits T-cell response and tumor growth inhibition.
      Title: Pancreas carcinoma antigen fused to invariant chain elicits T-cell response and tumor growth inhibition.
    9. These results suggest that the core 2 GlcNAc extended glycan chains on megalin can change the ligand-binding affinity and capacity.
      Title: Core 2 GlcNAc modification and megalin ligand-binding activity.
    10. plays a critical role in lymphocyte trafficking during chronic inflammation
      Title: Core 2 branching beta1,6-N-acetylglucosaminyltransferase and high endothelial venule-restricted sulfotransferase collaboratively control lymphocyte homing.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in O-glycan processing, core 2 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in O-glycan processing, core 2 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell adhesion molecule production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycoprotein biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within kidney morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in leukocyte tethering or rolling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of leukocyte tethering or rolling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within tissue morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi cisterna ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
    Names
    beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (Core 2 branching enzyme) (Core2-GlcNAc-transferase) (C2GNT)
    core 2 beta-1,6-N-acetylglucosaminyltransferase
    core 2-branching enzyme
    core2-GlcNAc-transferase
    leukocyte type core 2 beta-1,6-N-acetylglucosaminyltransferase
    NP_001129956.3
    NP_034395.4
    NP_775618.3
    XP_006526742.1
    XP_011245446.1
    XP_017173551.1
    XP_036017326.1
    XP_036017327.1

    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_001136484.3 → NP_001129956.3  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

      See identical proteins and their annotated locations for NP_001129956.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC147369, BY431975, BY768580
      Consensus CDS
      CCDS29687.1
      UniProtKB/Swiss-Prot
      O35981, Q09324, Q8BRB2
      UniProtKB/TrEMBL
      Q5D0D8
      Related
      ENSMUSP00000127835.2, ENSMUST00000169897.2
      Conserved Domains (1) summary
      pfam02485
      Location:123 → 391
      Branch; Core-2/I-Branching enzyme

    2. NM_010265.5 → NP_034395.4  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

      See identical proteins and their annotated locations for NP_034395.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC147369, BY431975, CJ092264
      Consensus CDS
      CCDS29687.1
      UniProtKB/Swiss-Prot
      O35981, Q09324, Q8BRB2
      UniProtKB/TrEMBL
      Q5D0D8
      Related
      ENSMUSP00000157681.2, ENSMUST00000236139.2
      Conserved Domains (1) summary
      pfam02485
      Location:123 → 391
      Branch; Core-2/I-Branching enzyme

    3. NM_173442.5 → NP_775618.3  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

      See identical proteins and their annotated locations for NP_775618.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC147369, AK045216, BY431975
      Consensus CDS
      CCDS29687.1
      UniProtKB/Swiss-Prot
      O35981, Q09324, Q8BRB2
      UniProtKB/TrEMBL
      Q5D0D8
      Related
      ENSMUSP00000133935.3, ENSMUST00000174236.8
      Conserved Domains (1) summary
      pfam02485
      Location:123 → 391
      Branch; Core-2/I-Branching enzyme

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      17303505..17350208 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247144.4 → XP_011245446.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011245446.1

      UniProtKB/TrEMBL
      Q5D0D8
      Conserved Domains (1) summary
      pfam02485
      Location:127 → 395
      Branch; Core-2/I-Branching enzyme

    2. XM_006526679.4 → XP_006526742.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isoform X1

      See identical proteins and their annotated locations for XP_006526742.1

      UniProtKB/TrEMBL
      Q5D0D8
      Conserved Domains (1) summary
      pfam02485
      Location:127 → 395
      Branch; Core-2/I-Branching enzyme

    3. XM_017318062.3 → XP_017173551.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D0D8
      Conserved Domains (1) summary
      pfam02485
      Location:127 → 395
      Branch; Core-2/I-Branching enzyme

    4. XM_036161433.1 → XP_036017326.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D0D8
      Conserved Domains (1) summary
      pfam02485
      Location:127 → 395
      Branch; Core-2/I-Branching enzyme

    5. XM_036161434.1 → XP_036017327.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isoform X1

      UniProtKB/TrEMBL
      Q5D0D8
      Related
      ENSMUSP00000157544.2, ENSMUST00000235184.2
      Conserved Domains (1) summary
      pfam02485
      Location:127 → 395
      Branch; Core-2/I-Branching enzyme
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09324.2 GenPept UniProtKB/Swiss-Prot:Q09324

    Gene LinkOut

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

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