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    Gmppb GDP-mannose pyrophosphorylase B [ Rattus norvegicus (Norway rat) ]

    Gene ID: 363145, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gmppbprovided by RGD
    Official Full Name
    GDP-mannose pyrophosphorylase Bprovided by RGD
    Primary source
    RGD:1560458
    See related
    AllianceGenome:RGD:1560458
    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
    Also known as
    RGD1560458
    Summary
    Predicted to enable mannose-1-phosphate guanylyltransferase (GTP) activity. Predicted to be involved in GDP-mannose biosynthetic process from glucose; GDP-mannose biosynthetic process from mannose; and protein glycosylation. Predicted to be part of GDP-mannose pyrophosphorylase complex. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy A14; muscular dystrophy-dystroglycanopathy; and muscular dystrophy-dystroglycanopathy type B14. Orthologous to human GMPPB (GDP-mannose pyrophosphorylase B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 81.0), Liver (RPKM 72.1) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Gmppb in Genome Data Viewer
    Location:
    8q32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (117616029..117622866)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (108737429..108740437)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (116826251..116856159)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134480233 Neighboring gene cadherin-related family member 4 Neighboring gene inositol hexakisphosphate kinase 1 Neighboring gene ring finger protein 123 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene macrophage stimulating 1 Neighboring gene acylaminoacyl-peptide hydrolase

    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. GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. Jensen BS, et al. Hum Mutat, 2015 Dec. PMID 26310427, Free PMC Article
    2. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Carss KJ, et al. Am J Hum Genet, 2013 Jul 11. PMID 23768512, Free PMC Article
    3. Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase. Evidence that GDP-mannose and GDP-Glc pyrophosphorylases are different proteins. Ning B, et al. Eur J Biochem, 2000 Dec. PMID 11082198
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. Prunotto M, et al. J Proteomics, 2013 Apr 26. PMID 23376485

    See all (6) 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 GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mannose-1-phosphate guanylyltransferase (GTP) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mannose-1-phosphate guanylyltransferase (GTP) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in GDP-mannose biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GDP-mannose biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GDP-mannose biosynthetic process from glucose ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GDP-mannose biosynthetic process from mannose ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GDP-mannose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of GDP-mannose pyrophosphorylase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of GDP-mannose pyrophosphorylase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mannose-1-phosphate guanyltransferase beta
    NP_001102251.1
    XP_006243873.1

    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_001108781.2 → NP_001102251.1  mannose-1-phosphate guanyltransferase beta

      See identical proteins and their annotated locations for NP_001102251.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6I329, D4A746
      Conserved Domains (2) summary
      cd06425
      Location:1 → 233
      M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins
      cl00160
      Location:255 → 334
      LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

    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_086026.1 Reference GRCr8

      Range
      117616029..117622866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006243811.5 → XP_006243873.1  mannose-1-phosphate guanyltransferase beta isoform X1

      Conserved Domains (3) summary
      cd06425
      Location:34 → 266
      M1P_guanylylT_B_like_N; N-terminal domain of the M1P-guanylyltransferase B-isoform like proteins
      COG1208
      Location:34 → 385
      GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]
      cl00160
      Location:288 → 367
      LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
    Nucleotide Protein Strain
    Heading Accession and Version

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