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    Pgm1 phosphoglucomutase 1 [ Mus musculus (house mouse) ]

    Gene ID: 72157, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pgm1provided by MGI
    Official Full Name
    phosphoglucomutase 1provided by MGI
    Primary source
    MGI:MGI:97565
    See related
    Ensembl:ENSMUSG00000025791 AllianceGenome:MGI:97565
    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
    Pgm2; Pgm-2; Pgm1a; 2610020G18Rik
    Summary
    Enables phosphoglucomutase activity. Acts upstream of or within glucose metabolic process. Predicted to be located in Z disc. Predicted to be active in cytosol. Is expressed in cerebral cortex; embryo; heart; and liver. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation It; endometrial cancer; and teratoma. Orthologous to human PGM1 (phosphoglucomutase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: The name of this locus, Pgm1, was recently updated by Mouse Genomic Informatics to be consistent with mammalian orthologs identified as Pgm1. Note that this gene is frequently referred to as Pgm2 in the literature. [02 Oct 2019]
    Expression
    Ubiquitous expression in liver E18 (RPKM 86.8), mammary gland adult (RPKM 70.6) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pgm1 in Genome Data Viewer
    Location:
    4 C6; 4 45.71 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (99786648..99844491)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (99929451..99987294)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene integrin beta 3 binding protein (beta3-endonexin) Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:99495752-99496005 Neighboring gene EF-hand calcium binding domain 7 Neighboring gene STARR-positive B cell enhancer ABC_E6193 Neighboring gene predicted gene, 26425 Neighboring gene STARR-seq mESC enhancer starr_10877 Neighboring gene predicted gene, 35701 Neighboring gene predicted gene 12701 Neighboring gene receptor tyrosine kinase-like orphan receptor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis. Conte F, et al. Int J Mol Sci, 2023 May 4. PMID 37175952, Free PMC Article
    2. Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency. Preisler N, et al. Mol Genet Metab, 2017 Nov. PMID 28882528
    3. Strain-specific transgene methylation occurs early in mouse development and can be recapitulated in embryonic stem cells. Weng A, et al. Development, 1995 Sep. PMID 7555712
    4. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG). Balakrishnan B, et al. Transl Res, 2023 Jul. PMID 36709920, Free PMC Article
    5. Gene responsible for deficient activity of the beta subunit of C8, the eighth component of complement, is located on mouse chromosome 4. Tanaka S, et al. Immunogenetics, 1991. PMID 1995474

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sec13 promotes glycolysis by inhibiting Ubqln1 mediated Pgm1 ubiquitination in ALI.
      Title: Sec13 promotes glycolysis by inhibiting Ubqln1 mediated Pgm1 ubiquitination in ALI.
    2. In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
      Title: In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
    Submit: New GeneRIF Correction

    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 magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphoglucomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphoglucomutase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphoglucomutase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phosphoglucomutase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in galactose catabolic process via UDP-galactose ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glucose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycogen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in glycogen catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phosphoglucomutase-1
    Names
    glucose phosphomutase 1
    phosphoglucomutase 2
    NP_082408.3
    XP_036020346.1

    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_001429271.1 → NP_001416200.1  phosphoglucomutase-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      CR536609
      UniProtKB/TrEMBL
      A2CEK3

    2. NM_028132.4 → NP_082408.3  phosphoglucomutase-1 isoform 2

      See identical proteins and their annotated locations for NP_082408.3

      Status: VALIDATED

      Source sequence(s)
      CR536609
      Consensus CDS
      CCDS18388.1
      UniProtKB/Swiss-Prot
      Q3UGE3, Q922D6, Q9D0F9
      UniProtKB/TrEMBL
      Q5RJV4
      Related
      ENSMUSP00000061227.10, ENSMUST00000058351.16
      Conserved Domains (1) summary
      cd03085
      Location:5 → 562
      PGM1; Phosphoglucomutase 1 (PGM1) catalyzes the bidirectional interconversion of glucose-1-phosphate (G-1-P) and glucose-6-phosphate (G-6-P) via a glucose 1,6-diphosphate intermediate, an important metabolic step in prokaryotes and eukaryotes. In one direction, ...

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      99786648..99844491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164453.1 → XP_036020346.1  phosphoglucomutase-1 isoform X1

      Related
      ENSMUSP00000099844.5, ENSMUST00000102783.5
      Conserved Domains (1) summary
      cd03085
      Location:24 → 580
      PGM1; Phosphoglucomutase 1 (PGM1) catalyzes the bidirectional interconversion of glucose-1-phosphate (G-1-P) and glucose-6-phosphate (G-6-P) via a glucose 1,6-diphosphate intermediate, an important metabolic step in prokaryotes and eukaryotes. In one direction, ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D0F9.4 GenPept UniProtKB/Swiss-Prot:Q9D0F9

    Gene LinkOut

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

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