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    Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 68273, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Pomgnt1provided by MGI
    Official Full Name
    protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferaseprovided by MGI
    Primary source
    MGI:MGI:1915523
    See related
    Ensembl:ENSMUSG00000028700 AllianceGenome:MGI:1915523
    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
    0610016I07Rik; 4930467B06Rik
    Summary
    Predicted to enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Acts upstream of or within several processes, including nervous system development; protein O-linked mannosylation; and reactive gliosis. Predicted to be located in membrane. Predicted to be active in Golgi membrane. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and respiratory system. Used to study Walker-Warburg syndrome and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa. Orthologous to human POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 35.5), ovary adult (RPKM 18.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pomgnt1 in Genome Data Viewer
    Location:
    4 D1; 4 53.1 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (116007700..116017041)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (116150498..116159844)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 41 Neighboring gene RAD54 like (S. cerevisiae) Neighboring gene RIKEN cDNA 2510003B16 gene Neighboring gene STARR-positive B cell enhancer ABC_E10248 Neighboring gene STARR-seq mESC enhancer starr_11132 Neighboring gene leucine rich adaptor protein 1 Neighboring gene tetraspanin 1 Neighboring gene Pik3r3 upstream reading frame

    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 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. Decreased expression of protein O-linked mannose β-1,2-N-acetylglucosaminyltransferase 1 contributes to Alzheimer's disease-like pathologies. Feng Y, et al. J Neurophysiol, 2022 Apr 1. PMID 35320023
    2. Role of glycosyltransferase PomGnT1 in glioblastoma progression. Lan J, et al. Neuro Oncol, 2015 Feb. PMID 25085363, Free PMC Article
    3. Cellular and molecular characterization of abnormal brain development in protein o-mannose N-acetylglucosaminyltransferase 1 knockout mice. Liu J, et al. Methods Enzymol, 2010. PMID 20816176
    4. Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy. Zhang P, et al. Matrix Biol, 2013 Apr 24. PMID 23454088, Free PMC Article
    5. Differentiation and developmental origin of cerebellar granule neuron ectopia in protein O-mannose UDP-N-acetylglucosaminyl transferase 1 knockout mice. Li X, et al. Neuroscience, 2008 Mar 18. PMID 18295407

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased expression of protein O-linked mannose beta-1,2-N-acetylglucosaminyltransferase 1 contributes to Alzheimer's disease-like pathologies.
      Title: Decreased expression of protein O-linked mannose β-1,2-N-acetylglucosaminyltransferase 1 contributes to Alzheimer's disease-like pathologies.
    2. Findings suggest that PomGnT1 promotes GBM progression via activation of beta-catenin and may serve as a prognostic factor for glioma patient survival as well as a novel molecular target for anticancer therapy in malignant glioma.
      Title: Role of glycosyltransferase PomGnT1 in glioblastoma progression.
    3. POMGnT1 gene knockout cause basement membrane disruptions in a mouse model of dystroglycanopathy.
      Title: Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy.
    4. Results describe the effect of altered glycosylation of alpha-dystroglycan caused by inactivation of POMGnT1 in the retina.
      Title: Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice.
    5. classical beta1,2-elongation and beta1,6-GlcNAc branching of O-mannose glycan structures are dependent upon the POMGnT1 enzyme and O-mannosylation is not limited solely to alpha-DG in the brain
      Title: Glycomic analyses of mouse models of congenital muscular dystrophy.
    6. POMGnT1 knockout mice were viable but with reduced fertility and variable lifespan
      Title: Cellular and molecular characterization of abnormal brain development in protein o-mannose N-acetylglucosaminyltransferase 1 knockout mice.
    7. POMGnT1(-/-) muscle showed minimal pathological changes with very low-serum creatine kinase levels, and had normally formed muscle basal lamina, but showed reduced muscle mass, reduced numbers of muscle fibers, and impaired muscle regeneration.
      Title: Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro.
    8. From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity.
      Title: Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
    9. The present study provides the first genetic animal model to further dissect the roles of POMGnT1 in MEB disease.
      Title: A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • RP23-319H15.3

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables manganese ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in O-glycan processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in O-glycan processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in O-glycan processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within basement membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within dentate gyrus development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within localization of cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within myelination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein O-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein O-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked glycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein modification process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within reactive gliosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
    Names
    O-mannosyl N-acetylglucosaminyltransferase
    NP_001277587.1
    NP_080927.1
    NP_084062.2

    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_001290658.1 → NP_001277587.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 3

      See identical proteins and their annotated locations for NP_001277587.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AI848361, AK015478, AK019640
      Consensus CDS
      CCDS71450.1
      UniProtKB/Swiss-Prot
      Q91X88
      Related
      ENSMUSP00000102103.3, ENSMUST00000106494.3
      Conserved Domains (2) summary
      cd02514
      Location:279 → 606
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:77 → 224
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases

    2. NM_026651.2 → NP_080927.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_080927.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB053220, AI848361, BY732188
      Consensus CDS
      CCDS18506.1
      UniProtKB/Swiss-Prot
      A2A8F8, Q91X88, Q9D2H7, Q9D5D3, Q9DCN3
      Related
      ENSMUSP00000102107.2, ENSMUST00000106498.8
      Conserved Domains (2) summary
      cd02514
      Location:301 → 628
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99 → 246
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases

    3. NM_029786.2 → NP_084062.2  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_084062.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB053220, AI848361, AK002638, BY732188
      Consensus CDS
      CCDS18507.1
      UniProtKB/Swiss-Prot
      Q91X88
      Related
      ENSMUSP00000102105.2, ENSMUST00000106496.8
      Conserved Domains (2) summary
      cd02514
      Location:268 → 595
      GT13_GLCNAC-TI; GT13_GLCNAC-TI is involved in an essential step in the synthesis of complex or hybrid-type N-linked oligosaccharides
      cd13937
      Location:99 → 229
      PANDER_GnT-1_2_like; PANDER-like domain of N-acetylglucosaminyltransferases

    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
      116007700..116017041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004941951.1 RNA Sequence

    2. XR_376348.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91X88.1 GenPept UniProtKB/Swiss-Prot:Q91X88

    Gene LinkOut

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

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