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PGM5 phosphoglucomutase 5 [ Homo sapiens (human) ]

Gene ID: 5239, updated on 25-Nov-2025
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
all
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Try the new Transcripts and proteins table
See PGM5 in Genome Data Viewer
Location:
9q21.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (68356611..68531061)
RS_2025_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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables intramolecular phosphotransferase activity IEA
Inferred from Electronic Annotation
more info
  
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 carbohydrate metabolic process IEA
Inferred from Electronic Annotation
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 
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
  
is_active_in cell-substrate junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell-substrate junction IEA
Inferred from Electronic Annotation
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 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of dystrophin-associated glycoprotein complex IEA
Inferred from Electronic Annotation
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 sarcolemma IEA
Inferred from Electronic Annotation
more info
  
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 
Preferred Names
phosphoglucomutase-like protein 5
Names
PGM-RP
aciculin
phosphoglucomutase-related protein

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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_2025_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

Gene LinkOut

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