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    Pomt1 protein-O-mannosyltransferase 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 84430, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Pomt1provided by RGD
    Official Full Name
    protein-O-mannosyltransferase 1provided by RGD
    Primary source
    RGD:620078
    See related
    EnsemblRapid:ENSRNOG00000010477 AllianceGenome:RGD:620078
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable mannosyltransferase activity. Involved in positive regulation of protein O-linked glycosylation. Predicted to be located in acrosomal vesicle; endoplasmic reticulum membrane; and sarcoplasmic reticulum. Predicted to be part of dolichyl-phosphate-mannose-protein mannosyltransferase complex. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 85.2), Adrenal (RPKM 60.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pomt1 in Genome Data Viewer
    Location:
    3p12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (35918370..35936330)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (15520717..15538579)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (11253424..11271873)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene proline-rich coiled-coil 2B Neighboring gene uncharacterized LOC103691765 Neighboring gene small nucleolar RNA, C/D box 62A Neighboring gene small nucleolar RNA, C/D box 62B Neighboring gene uridine-cytidine kinase 1 Neighboring gene uncharacterized LOC134486071 Neighboring gene SWI5 homologous recombination repair protein

    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
    • 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. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Vajsar J, et al. Neuromuscul Disord, 2008 Aug. PMID 18640039
    2. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk J, et al. Hum Mutat, 2006 May. PMID 16575835
    3. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Bello L, et al. Eur J Hum Genet, 2012 Dec. PMID 22549409, Free PMC Article
    4. Molecular cloning and characterization of rat Pomt1 and Pomt2. Manya H, et al. Glycobiology, 2006 Sep. PMID 16704966
    5. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Currier SC, et al. Am J Med Genet A, 2005 Feb 15. PMID 15637732

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables mannosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within extracellular matrix organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked mannosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in acrosomal vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein O-mannosyl-transferase 1
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 1
    NP_445858.1
    XP_038961907.1
    XP_063140780.1

    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_053406.2 → NP_445858.1  protein O-mannosyl-transferase 1

      See identical proteins and their annotated locations for NP_445858.1

      Status: VALIDATED

      Source sequence(s)
      AF192388, BC070912, DY309994
      UniProtKB/Swiss-Prot
      Q6IRI2, Q99PR0
      UniProtKB/TrEMBL
      A0A0G2K523, A6JU44
      Related
      ENSRNOP00000073262.1, ENSRNOT00000082794.3
      Conserved Domains (1) summary
      COG1928
      Location:22 → 742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    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_086021.1 Reference GRCr8

      Range
      35918370..35936330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063284710.1 → XP_063140780.1  protein O-mannosyl-transferase 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2K523

    2. XM_039105979.2 → XP_038961907.1  protein O-mannosyl-transferase 1 isoform X1

      UniProtKB/Swiss-Prot
      Q6IRI2, Q99PR0
      UniProtKB/TrEMBL
      A0A0G2K523, A6JU44
      Related
      ENSRNOP00000015214.4, ENSRNOT00000015214.6
      Conserved Domains (1) summary
      COG1928
      Location:22 → 742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. XR_005501994.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99PR0.1 GenPept UniProtKB/Swiss-Prot:Q99PR0

    Gene LinkOut

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