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

Gene ID: 68273, updated on 28-Oct-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, Oct 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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