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    PGM1 phosphoglucomutase 1 [ Homo sapiens (human) ]

    Gene ID: 5236, updated on 9-Jun-2024

    Summary

    Official Symbol
    PGM1provided by HGNC
    Official Full Name
    phosphoglucomutase 1provided by HGNC
    Primary source
    HGNC:HGNC:8905
    See related
    Ensembl:ENSG00000079739 MIM:171900; AllianceGenome:HGNC:8905
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG1T; GSD14
    Summary
    The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in fat (RPKM 59.8), liver (RPKM 51.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PGM1 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (63593411..63660245)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (63469205..63536042)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (64059082..64125916)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 123 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:64038344-64038938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:64039532-64040125 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:64040126-64040718 Neighboring gene EF-hand calcium binding domain 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1128 Neighboring gene deleted in lymphocytic leukemia 2 like Neighboring gene uncharacterized LOC105378771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:64140637-64141138 Neighboring gene RNA, 7SL, cytoplasmic 130, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:64179745-64180246 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:64187597-64188096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:64197420-64197975 Neighboring gene Sharpr-MPRA regulatory region 14006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 952 Neighboring gene Sharpr-MPRA regulatory region 13784 Neighboring gene Sharpr-MPRA regulatory region 321 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:64246221-64246776 Neighboring gene ribosomal protein L19 pseudogene 3 Neighboring gene receptor tyrosine kinase like orphan receptor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of phosphoglucomutase 1 (PGM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucose metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glycolytic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phosphoglucomutase-1
    Names
    PGM 1
    glucose phosphomutase 1
    NP_001166289.1
    NP_001166290.1
    NP_002624.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_016966.1 RefSeqGene

      Range
      5136..71970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172818.1NP_001166289.1  phosphoglucomutase-1 isoform 2

      See identical proteins and their annotated locations for NP_001166289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a longer and different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK300100, BC019920, DC373587
      Consensus CDS
      CCDS53323.1
      UniProtKB/TrEMBL
      B7Z6C2
      Related
      ENSP00000360124.4, ENST00000371083.4
      Conserved Domains (2) summary
      cd03085
      Location:24580
      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, ...
      PLN02307
      Location:27580
      PLN02307; phosphoglucomutase
    2. NM_001172819.2NP_001166290.1  phosphoglucomutase-1 isoform 3

      See identical proteins and their annotated locations for NP_001166290.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK293298, BC019920
      Consensus CDS
      CCDS53324.1
      UniProtKB/TrEMBL
      B4DDQ8
      Related
      ENSP00000443449.1, ENST00000540265.5
      Conserved Domains (1) summary
      cl03757
      Location:1365
      phosphohexomutase; The alpha-D-phosphohexomutase superfamily includes several related enzymes that catalyze a reversible intramolecular phosphoryl transfer on their sugar substrates. Members of this family include the phosphoglucomutases (PGM1 and PGM2), phosphoglucosamine ...
    3. NM_002633.3NP_002624.2  phosphoglucomutase-1 isoform 1

      See identical proteins and their annotated locations for NP_002624.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is dominant and encodes a protein of 562aa.
      Source sequence(s)
      BC019920
      Consensus CDS
      CCDS625.1
      UniProtKB/Swiss-Prot
      B2R5N9, B4DPV0, P36871, Q16105, Q16106, Q5BKZ9, Q6NW22, Q86U74, Q96J40, Q9NTY4
      UniProtKB/TrEMBL
      B4DFP1
      Related
      ENSP00000360125.3, ENST00000371084.8
      Conserved Domains (2) summary
      cd03085
      Location:5562
      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, ...
      PLN02307
      Location:1562
      PLN02307; phosphoglucomutase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      63593411..63660245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      63469205..63536042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)