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    Gmppb GDP-mannose pyrophosphorylase B [ Mus musculus (house mouse) ]

    Gene ID: 331026, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Gmppbprovided by MGI
    Official Full Name
    GDP-mannose pyrophosphorylase Bprovided by MGI
    Primary source
    MGI:MGI:2660880
    See related
    Ensembl:ENSMUSG00000070284 AllianceGenome:MGI:2660880
    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
    E430010H19
    Summary
    Predicted to enable mannose-1-phosphate guanylyltransferase (GTP) activity. Involved in GDP-mannose biosynthetic process from glucose and GDP-mannose biosynthetic process from mannose. Located in mitochondrion. Is active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. 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, Dec 2024]
    Expression
    Ubiquitous expression in large intestine adult (RPKM 34.0), placenta adult (RPKM 25.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gmppb in Genome Data Viewer
    Location:
    9 F1; 9 59.07 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (107926490..107929119)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (108049239..108051923)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930535L15 gene Neighboring gene cadherin-related family member 4 Neighboring gene STARR-positive B cell enhancer ABC_E61 Neighboring gene inositol hexaphosphate kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E2305 Neighboring gene STARR-positive B cell enhancer ABC_E6803 Neighboring gene STARR-positive B cell enhancer ABC_E3859 Neighboring gene ring finger protein 123 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene microRNA 7088 Neighboring gene macrophage stimulating 1 (hepatocyte growth factor-like)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Consequences of GMPPB deficiency for neuromuscular development and maintenance. Schurig MK, et al. Front Mol Neurosci, 2024. PMID 38419795, Free PMC Article
    2. GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB. Liu Z, et al. Mol Biomed, 2021 May 10. PMID 35006422, Free PMC Article
    3. GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. Franzka P, et al. J Clin Invest, 2021 May 3. PMID 33755596, Free PMC Article
    4. The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. Sansom SN, et al. PLoS Genet, 2009 Jun. PMID 19521500, Free PMC Article
    5. LCP1 preferentially binds clasped αMβ2 integrin and attenuates leukocyte adhesion under flow. Tseng HY, et al. J Cell Sci, 2018 Nov 21. PMID 30333137, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by MGI

    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
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GDP-mannose biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in GDP-mannose biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in GDP-mannose biosynthetic process from glucose IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in GDP-mannose biosynthetic process from mannose IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of GDP-mannose pyrophosphorylase complex ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    mannose-1-phosphate guanylyltransferase catalytic subunit beta
    Names
    GTP-mannose-1-phosphate guanylyltransferase beta
    mannose-1-phosphate guanyltransferase beta
    NP_001344611.1
    NP_001397558.1
    NP_808578.1

    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_001357682.2 → NP_001344611.1  mannose-1-phosphate guanylyltransferase catalytic subunit beta

      Status: VALIDATED

      Source sequence(s)
      AC137678
      Consensus CDS
      CCDS23515.1
      UniProtKB/Swiss-Prot
      Q8BTZ7
      Related
      ENSMUSP00000036898.8, ENSMUST00000047947.9
      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 ...

    2. NM_001410629.1 → NP_001397558.1  mannose-1-phosphate guanylyltransferase catalytic subunit beta

      Status: VALIDATED

      Source sequence(s)
      AC137678
      UniProtKB/Swiss-Prot
      Q8BTZ7

    3. NM_177910.5 → NP_808578.1  mannose-1-phosphate guanylyltransferase catalytic subunit beta

      See identical proteins and their annotated locations for NP_808578.1

      Status: VALIDATED

      Source sequence(s)
      AC137678
      Consensus CDS
      CCDS23515.1
      UniProtKB/Swiss-Prot
      Q8BTZ7
      Related
      ENSMUSP00000107914.3, ENSMUST00000112295.9
      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 ...

    RNA

    1. NR_177100.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC137678

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      107926490..107929119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BTZ7.1 GenPept UniProtKB/Swiss-Prot:Q8BTZ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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