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Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [ Rattus norvegicus (Norway rat) ]

Gene ID: 362567, updated on 17-Aug-2024

Summary

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Official Symbol
Pomgnt1provided by RGD
Official Full Name
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)provided by RGD
Primary source
RGD:1359396
See related
EnsemblRapid:ENSRNOG00000023455 AllianceGenome:RGD:1359396
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Predicted to be involved in O-glycan processing. Predicted to be integral component of membrane. Predicted to be integral component of Golgi membrane. 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
Biased expression in Kidney (RPKM 99.0), Muscle (RPKM 98.1) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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Location:
5q35
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (134870971..134880864)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (129634274..129644150)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (135007343..135017220)

Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134486969 Neighboring gene leucine rich adaptor protein 1 Neighboring gene tetraspanin 1 Neighboring gene PIK3R3 upstream open reading frame Neighboring gene uncharacterized LOC120103122 Neighboring gene transfer RNA proline (anticodon AGG) 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. Biancheri R, et al. Arch Neurol, 2006 Oct. PMID 17030669
  2. Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. Kuwabara N, et al. Proc Natl Acad Sci U S A, 2016 Aug 16. PMID 27493216, Free PMC Article
  3. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Wang NH, et al. Invest Ophthalmol Vis Sci, 2016 Jul 1. PMID 27391550
  4. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Xu M, et al. Hum Mol Genet, 2016 Apr 15. PMID 26908613, Free PMC Article
  5. Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. Jiao H, et al. Mol Genet Genomics, 2013 Aug. PMID 23689641

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC94463

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables acetylglucosaminyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
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 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 IEA
Inferred from Electronic Annotation
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
  
involved_in basement membrane organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within basement membrane organization ISO
Inferred from Sequence Orthology
more info
  
involved_in biological_process ND
No biological Data available
more info
  
acts_upstream_of_or_within brain development ISO
Inferred from Sequence Orthology
more info
  
involved_in dentate gyrus development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within dentate gyrus development ISO
Inferred from Sequence Orthology
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within gene expression ISO
Inferred from Sequence Orthology
more info
  
involved_in localization of cell IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within localization of cell ISO
Inferred from Sequence Orthology
more info
  
involved_in myelination IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within myelination ISO
Inferred from Sequence Orthology
more info
  
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
  
involved_in protein O-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein O-linked mannosylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein O-linked mannosylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein glycosylation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein modification process ISO
Inferred from Sequence Orthology
more info
  
involved_in reactive gliosis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within reactive gliosis ISO
Inferred from Sequence Orthology
more info
  
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within sensory perception of sound ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
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-linked mannose beta1,2-N-acetylglucosaminyltransferase
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
NP_001007748.1
XP_006238745.1
XP_063144049.1

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_001007747.1 → NP_001007748.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

    See identical proteins and their annotated locations for NP_001007748.1

    Status: PROVISIONAL

    Source sequence(s)
    BC083641
    UniProtKB/Swiss-Prot
    Q5XIN7
    UniProtKB/TrEMBL
    A0A8L2QK62
    Related
    ENSRNOP00000035825.6, ENSRNOT00000035312.7
    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

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086023.1 Reference GRCr8

    Range
    134870971..134880864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063287979.1 → XP_063144049.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q5XIN7
    UniProtKB/TrEMBL
    A0A8L2QK62

  2. XM_006238683.5 → XP_006238745.1  protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform X2

    See identical proteins and their annotated locations for XP_006238745.1

    UniProtKB/TrEMBL
    A0A8I6AMP8, A0A8L2QK62, A6JZ66
    Related
    ENSRNOP00000095021.1, ENSRNOT00000109490.2
    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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5XIN7.1 GenPept UniProtKB/Swiss-Prot:Q5XIN7

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