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Pgm1 phosphoglucomutase 1 [ Mus musculus (house mouse) ]

Gene ID: 72157, updated on 2-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 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

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