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    PGM5 phosphoglucomutase 5 [ Homo sapiens (human) ]

    Gene ID: 5239, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PGM5provided by HGNC
    Official Full Name
    phosphoglucomutase 5provided by HGNC
    Primary source
    HGNC:HGNC:8908
    See related
    Ensembl:ENSG00000154330 MIM:600981; AllianceGenome:HGNC:8908
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PGMRP
    Summary
    Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in prostate (RPKM 50.4), esophagus (RPKM 35.1) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PGM5 in Genome Data Viewer
    Location:
    9q21.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68356611..68531061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (80530217..80704652)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (70971527..71145977)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929800 Neighboring gene uncharacterized LOC102723624 Neighboring gene PGM5 antisense RNA 1 Neighboring gene uncharacterized LOC105376070 Neighboring gene uncharacterized LOC124902174 Neighboring gene TMEM252 divergent transcript Neighboring gene long intergenic non-protein coding RNA 1506 Neighboring gene transmembrane protein 252

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Characterisation of the promoter which regulates expression of a phosphoglucomutase-related protein, a component of the dystrophin/utrophin cytoskeleton predominantly expressed in smooth muscle. Moiseeva EP, et al. Eur J Biochem, 1997 Sep 15. PMID 9342213
    2. A novel phosphoglucomutase-related protein is concentrated in adherens junctions of muscle and nonmuscle cells. Belkin AM, et al. J Cell Sci, 1994 Jan. PMID 8175905
    3. Localization of utrophin and aciculin at sites of cell-matrix and cell-cell adhesion in cultured cells. Belkin AM, et al. Exp Cell Res, 1995 Nov. PMID 7589238
    4. A novel human phosphoglucomutase (PGM5) maps to the centromeric region of chromosome 9. Edwards YH, et al. Genomics, 1995 Nov 20. PMID 8586438
    5. A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the phosphoglucomutase superfamily. Moiseeva EP, et al. Eur J Biochem, 1996 Jan 15. PMID 8631316

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly.
      Title: Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Function Evidence Code Pubs
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables phosphoglucomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables phosphoglucomutase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in striated muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cell-substrate junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in costamere IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of dystrophin-associated glycoprotein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spot adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphoglucomutase-like protein 5
    Names
    PGM-RP
    aciculin
    phosphoglucomutase-related protein

    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_021965.4 → NP_068800.2  phosphoglucomutase-like protein 5

      See identical proteins and their annotated locations for NP_068800.2

      Status: VALIDATED

      Source sequence(s)
      AA709405, AI078570, AI374906, AL137698, AL353608, AL710966, BC033073
      Consensus CDS
      CCDS6622.2
      UniProtKB/Swiss-Prot
      B1AM46, B4DLQ6, Q15124, Q5VYV3, Q8N527, Q9UDH4
      Related
      ENSP00000379678.1, ENST00000396396.6
      Conserved Domains (2) summary
      PLN02307
      Location:6 → 567
      PLN02307; phosphoglucomutase
      cl03757
      Location:10 → 567
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      68356611..68531061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423473.1 → XP_047279429.1  phosphoglucomutase-like protein 5 isoform X3

    2. XM_011518783.4 → XP_011517085.1  phosphoglucomutase-like protein 5 isoform X2

      Conserved Domains (1) summary
      cl03757
      Location:10 → 347
      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. XM_024447573.2 → XP_024303341.1  phosphoglucomutase-like protein 5 isoform X1

      Related
      ENSP00000379674.1, ENST00000396392.5
      Conserved Domains (1) summary
      cl03757
      Location:10 → 348
      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 ...

    4. XM_011518782.4 → XP_011517084.1  phosphoglucomutase-like protein 5 isoform X1

      Conserved Domains (1) summary
      cl03757
      Location:10 → 348
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      80530217..80704652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363109.1 → XP_054219084.1  phosphoglucomutase-like protein 5 isoform X2

    2. XM_054363108.1 → XP_054219083.1  phosphoglucomutase-like protein 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15124.2 GenPept UniProtKB/Swiss-Prot:Q15124

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