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

Summary

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 protein O-linked glycosylation. Predicted to be integral component of membrane. Predicted to be integral component of 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. 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, Apr 2022]
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

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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).

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Variation

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Alleles

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

Endonuclease-mediated (4)
Gene trapped (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

36.MMHAP9FRD12.seq (e-PCR)
- UniSTS:124206

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology 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 glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables manganese ion binding	ISO Inferred from Sequence Orthology more info
enables metal ion 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	IBA Inferred from Biological aspect of Ancestor more info
involved_in O-glycan processing	ISO Inferred from Sequence Orthology 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
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
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
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 membrane	ISO Inferred from Sequence Orthology 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

EC 2.4.1.-

NP_080927.1

EC 2.4.1.-

NP_084062.2

EC 2.4.1.-

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)

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
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
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