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] See more...

Aliases for PGM5 Gene

Aliases for PGM5 Gene

  • Phosphoglucomutase 5 2 3 5
  • Phosphoglucomutase-Related Protein 2 3 4
  • Phosphoglucomutase-Like Protein 5 3 4
  • Aciculin 3 4
  • PGM-RP 3 4
  • PGMRP 3 4
  • EC 5.4.2.2 52

External Ids for PGM5 Gene

Previous GeneCards Identifiers for PGM5 Gene

  • GC09P062016
  • GC09P062828
  • GC09P064541
  • GC09P066429
  • GC09P066428
  • GC09P068201
  • GC09P070161
  • GC09P070971
  • GC09P040808

Summaries for PGM5 Gene

Entrez Gene Summary for PGM5 Gene

  • 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]

GeneCards Summary for PGM5 Gene

PGM5 (Phosphoglucomutase 5) is a Protein Coding gene. Diseases associated with PGM5 include Glycogen Storage Disease Vi and Glycogen Storage Disease Ixa. Among its related pathways are Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include structural molecule activity and intramolecular transferase activity, phosphotransferases. An important paralog of this gene is PGM1.

UniProtKB/Swiss-Prot Summary for PGM5 Gene

  • Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity.

Gene Wiki entry for PGM5 Gene

Additional gene information for PGM5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PGM5 Gene

Genomics for PGM5 Gene

GeneHancer (GH) Regulatory Elements for PGM5 Gene

Promoters and enhancers for PGM5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J068356 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 518 +29.3 29292 3.2 ZSCAN5C ZBTB10 ZBTB26 ZNF341 SIN3A KLF9 ZBTB17 KLF8 ZBTB48 ZNF335 PGM5 PGM5-AS1 ENSG00000226904 ANKRD20A1 lnc-TMEM252-1
GH09J068559 Enhancer 1 FANTOM5 ENCODE dbSUPER 31.7 +232.2 232197 1.5 CTCF FOS RAD21 SMC3 NR2F2 POLR2A BHLHE40 MAX ZNF143 ZNF148 PGM5 PRKACG piR-32214-689 LINC01506 TMEM252-DT
GH09J068505 Enhancer 1.2 Ensembl ENCODE dbSUPER 16.4 +178.8 178793 3.4 CTCF USF1 PHB2 TARDBP HES1 CTBP1 FOXA2 HDAC3 NR2F2 NCOR1 TMEM252 PGM5 TMEM252-DT PRKACG lnc-TMEM252-4 HSALNG0071689
GH09J068499 Enhancer 1.1 Ensembl ENCODE dbSUPER 14.9 +172.7 172727 3.5 ZNF217 TCF12 GATAD2B CTBP1 FOXA2 MBD2 FOS FOSL2 CEBPB NEUROD1 PGM5 TMEM252 TMEM252-DT PRKACG lnc-TMEM252-4 HSALNG0071689
GH09J068545 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 9.2 +218.4 218435 2.1 SP1 EP300 JUND RELA RCOR1 NFYB BCL11A TCF12 CBFB CTCF LINC01506 TMEM252 PRKACG PGM5 TMEM252-DT piR-32214-689
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGM5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGM5

Top Transcription factor binding sites by QIAGEN in the PGM5 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-3
  • HFH-1
  • NF-kappaB
  • NF-kappaB1
  • RP58

Genomic Locations for PGM5 Gene

Genomic Locations for PGM5 Gene
chr9:68,328,308-68,531,061
(GRCh38/hg38)
Size:
202,754 bases
Orientation:
Plus strand
chr9:70,943,224-71,145,977
(GRCh37/hg19)
Size:
202,754 bases
Orientation:
Plus strand

Genomic View for PGM5 Gene

Genes around PGM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGM5 Gene

Proteins for PGM5 Gene

  • Protein details for PGM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15124-PGM5_HUMAN
    Recommended name:
    Phosphoglucomutase-like protein 5
    Protein Accession:
    Q15124
    Secondary Accessions:
    • B1AM46
    • B4DLQ6
    • Q5VYV3
    • Q8N527
    • Q9UDH4

    Protein attributes for PGM5 Gene

    Size:
    567 amino acids
    Molecular mass:
    62225 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with cytoskeletal proteins dystrophin and utrophin.
    SequenceCaution:
    • Sequence=AAC41948.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH33073.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA73882.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PGM5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGM5 Gene

Selected DME Specific Peptides for PGM5 Gene

Q15124:
  • HPDPNLTYA
  • GILSTPA
  • CGEESFGTG
  • LSTPAVS

Post-translational modifications for PGM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PGM5 Gene

Domains & Families for PGM5 Gene

Gene Families for PGM5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PGM5 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoglucomutase-related protein (PGM5_HUMAN)
  • Phosphoglucomutase 5 (Q5JTY7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15124

UniProtKB/Swiss-Prot:

PGM5_HUMAN :
  • Belongs to the phosphohexose mutase family.
Family:
  • Belongs to the phosphohexose mutase family.
genes like me logo Genes that share domains with PGM5: view

Function for PGM5 Gene

Molecular function for PGM5 Gene

UniProtKB/Swiss-Prot Function:
Component of adherens-type cell-cell and cell-matrix junctions. Lacks phosphoglucomutase activity.
GENATLAS Biochemistry:
phosphoglucomutase 5,with homology to PGM1 but unknown function,widely expressed in fetal and adult tissues

Enzyme Numbers (IUBMB) for PGM5 Gene

Phenotypes From GWAS Catalog for PGM5 Gene

Gene Ontology (GO) - Molecular Function for PGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004614 NOT phosphoglucomutase activity IDA,IBA 8175905
GO:0005198 structural molecule activity NAS 8631316
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PGM5: view
genes like me logo Genes that share phenotypes with PGM5: view

miRNA for PGM5 Gene

miRTarBase miRNAs that target PGM5

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGM5 Gene

Localization for PGM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGM5 Gene

Cell junction, adherens junction. Cytoplasm, cytoskeleton. Note=Adherens-type cellular junctions. Concentrated in focal contacts at the ends of actin bundles, and associated with actin filaments.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGM5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 4
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA,IBA 8175905
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with PGM5: view

Pathways & Interactions for PGM5 Gene

PathCards logo

SuperPathways for PGM5 Gene

SuperPathway Contained pathways
1 Porphyrin and chlorophyll metabolism
genes like me logo Genes that share pathways with PGM5: view

Pathways by source for PGM5 Gene

1 BioSystems pathway for PGM5 Gene

Gene Ontology (GO) - Biological Process for PGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0007155 cell adhesion IEA --
GO:0014706 striated muscle tissue development IBA 21873635
GO:0030239 myofibril assembly IBA 21873635
genes like me logo Genes that share ontologies with PGM5: view

No data available for SIGNOR curated interactions for PGM5 Gene

Drugs & Compounds for PGM5 Gene

(1) Drugs for PGM5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with PGM5: view

Transcripts for PGM5 Gene

mRNA/cDNA for PGM5 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGM5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: - -
SP3:
SP4:

Relevant External Links for PGM5 Gene

GeneLoc Exon Structure for
PGM5

Expression for PGM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PGM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PGM5 Gene

This gene is overexpressed in Colon - Sigmoid (x6.2), Esophagus - Muscularis (x5.5), Esophagus - Gastroesophageal Junction (x4.9), and Bladder (x4.7).

Protein differential expression in normal tissues from HIPED for PGM5 Gene

This gene is overexpressed in Urinary Bladder (15.9), Seminal vesicle (12.1), Prostate (10.0), and Uterus (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PGM5 Gene



Protein tissue co-expression partners for PGM5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PGM5

SOURCE GeneReport for Unigene cluster for PGM5 Gene:

Hs.307835

mRNA Expression by UniProt/SwissProt for PGM5 Gene:

Q15124-PGM5_HUMAN
Tissue specificity: Detected in smooth and cardiac muscle at high levels and in skeletal muscle at low level. Present in other tissues due to vascular or other smooth muscle component. Low levels are present in liver, kidney, skin and brain (at protein level).

Evidence on tissue expression from TISSUES for PGM5 Gene

  • Muscle(4.6)
  • Liver(4.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with PGM5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PGM5 Gene

Orthologs for PGM5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC472942 30
  • 99.12 (n)
PGM5 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PGM5 31 30
  • 93.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PGM5 31 30
  • 91.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pgm5 17 31 30
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Pgm5 30
  • 90.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PGM5 31
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PGM5 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGM5 31 30
  • 80.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PGM5 31
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pgm5 31 30
  • 72.73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pgm 31
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05F9.6 31 32
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGM2 31
  • 43 (a)
ManyToMany
PGM1 31
  • 41 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G70730 30
  • 54.91 (n)
rice
(Oryza sativa)
Liliopsida Os03g0712700 30
  • 56.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6075 31
  • 54 (a)
OneToMany
Species where no ortholog for PGM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PGM5 Gene

ENSEMBL:
Gene Tree for PGM5 (if available)
TreeFam:
Gene Tree for PGM5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PGM5: view image

Paralogs for PGM5 Gene

Paralogs for PGM5 Gene

(1) SIMAP similar genes for PGM5 Gene using alignment to 2 proteins:

  • PGM5_HUMAN
  • Q5JTY7_HUMAN

Pseudogenes.org Pseudogenes for PGM5 Gene

genes like me logo Genes that share paralogs with PGM5: view

Variants for PGM5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGM5 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
770581 Likely Benign: not provided 68,378,303(+) C/T SYNONYMOUS_VARIANT
778427 Benign: not provided 68,378,237(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PGM5 Gene

Structural Variations from Database of Genomic Variants (DGV) for PGM5 Gene

Variant ID Type Subtype PubMed ID
esv3620542 CNV loss 21293372
esv3620543 CNV gain 21293372
esv3620544 CNV gain 21293372
esv3891677 CNV gain 25118596
nsv1015629 CNV gain 25217958
nsv1022177 CNV gain 25217958
nsv1026962 CNV gain 25217958
nsv1032290 CNV gain 25217958
nsv428218 CNV loss 18775914
nsv614546 CNV gain 21841781
nsv831609 CNV gain 17160897
nsv8519 CNV gain 18304495
nsv8520 CNV gain 18304495
nsv8521 CNV loss 18304495
nsv972755 CNV duplication 23825009

Variation tolerance for PGM5 Gene

Residual Variation Intolerance Score: 74.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.52; 43.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGM5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGM5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGM5 Gene

Disorders for PGM5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PGM5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
glycogen storage disease vi
  • gsd6
glycogen storage disease ixa
  • glycogen storage disease type 9a
- elite association - COSMIC cancer census association via MalaCards
Search PGM5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PGM5

genes like me logo Genes that share disorders with PGM5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGM5 Gene

Publications for PGM5 Gene

  1. A novel dystrophin/utrophin-associated protein is an enzymatically inactive member of the phosphoglucomutase superfamily. (PMID: 8631316) Moiseeva EP … Critchley DR (European journal of biochemistry 1996) 2 3 4 23 54
  2. Characterisation of the promoter which regulates expression of a phosphoglucomutase-related protein, a component of the dystrophin/utrophin cytoskeleton predominantly expressed in smooth muscle. (PMID: 9342213) Moiseeva EP … Critchley DR (European journal of biochemistry 1997) 3 4 23 54
  3. A novel human phosphoglucomutase (PGM5) maps to the centromeric region of chromosome 9. (PMID: 8586438) Edwards YH … Ives JH (Genomics 1995) 2 3 23 54
  4. Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles. (PMID: 10867799) Wakayama Y … Oniki H (Acta neuropathologica 2000) 3 23 54
  5. Association of aciculin with dystrophin and utrophin. (PMID: 7890770) Belkin AM … Burridge K (The Journal of biological chemistry 1995) 3 23 54

Products for PGM5 Gene

Sources for PGM5 Gene