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Aliases for PGM5 Gene

Aliases for PGM5 Gene

  • Phosphoglucomutase 5 2 3 5
  • Phosphoglucomutase-Related Protein 2 3 4
  • Aciculin 3 4
  • PGM-RP 3 4
  • PGMRP 3 4
  • Phosphoglucomutase-Like Protein 5 3
  • EC 5.4.2.2 61

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. Among its related pathways are Porphyrin and chlorophyll metabolism. 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 for PGM5 Gene

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

Gene Wiki entry for PGM5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGM5 Gene

Genomics for PGM5 Gene

Regulatory Elements for PGM5 Gene

Enhancers for PGM5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G068559 1.5 FANTOM5 Ensembl ENCODE dbSUPER 31.7 +232.1 232129 1.7 CTCF BHLHE40 MAX ATF2 RAD21 NR2F2 CREB1 ZNF143 FOS KDM1A PGM5 PRKACG LINC01506 GC09P068599
GH09G068499 1.3 Ensembl ENCODE dbSUPER 14.9 +172.3 172279 2.6 FOXA2 JUN ZNF384 CEBPG CTBP1 GATA3 SCRT2 FOSL2 FOS TCF7L2 PGM5 ENSG00000226337 TMEM252 PRKACG GC09M068509 ENSG00000229019
GH09G068550 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12 +223.2 223201 1.3 PKNOX1 ZSCAN4 PBX2 PGM5 PRKACG LINC01506 GC09P068599
GH09G068545 1.3 Ensembl ENCODE dbSUPER 9.2 +219.0 218993 3.4 PKNOX1 TBL1XR1 BMI1 RAD21 EGR1 RELB ETV6 IKZF2 CREM CBFB PRKACG PGM5 LINC01506 GC09P068599
GH09G068564 0.9 Ensembl ENCODE dbSUPER 12.8 +236.4 236391 0.6 FOS PGM5 TMEM252 ENSG00000226337 PRKACG LINC01506 GC09P068599
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PGM5 on UCSC Golden Path with GeneCards custom track

Promoters for PGM5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000235474 -99 801 CTCF KLF1 ZSCAN4 ZNF223 KLF17 GATA2 PATZ1 FOS KLF8 ZBTB20
ENSR00000335839 901 400 EZH2

Genomic Location for PGM5 Gene

Chromosome:
9
Start:
68,328,308 bp from pter
End:
68,531,061 bp from pter
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

Suggested Antigen Peptide Sequences for PGM5 Gene

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

No data available for Gene Families for PGM5 Gene

Function for PGM5 Gene

Molecular function for PGM5 Gene

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

Enzyme Numbers (IUBMB) 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 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

Animal Model Products

CRISPR Products

miRNA for PGM5 Gene

miRTarBase miRNAs that target PGM5

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PGM5

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 3

Gene Ontology (GO) - Cellular Components for PGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 8175905
GO:0005737 cytoplasm IEA --
GO:0005829 NOT cytosol IBA --
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

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:0005978 NOT glycogen biosynthetic process IBA --
GO:0006006 NOT glucose metabolic process IBA --
GO:0007155 cell adhesion IEA --
GO:0019388 NOT galactose catabolic process IBA --
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 Nutra 0
genes like me logo Genes that share compounds with PGM5: view

Transcripts for PGM5 Gene

Unigene Clusters for PGM5 Gene

Phosphoglucomutase 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PGM5

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
ECgene alternative splicing isoforms for
PGM5

Expression for PGM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PGM5 Gene



Protein tissue co-expression partners for PGM5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PGM5 Gene:

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

Primer Products

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 34
  • 99.12 (n)
PGM5 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PGM5 34 35
  • 93.3 (n)
dog
(Canis familiaris)
Mammalia PGM5 34 35
  • 91.81 (n)
mouse
(Mus musculus)
Mammalia Pgm5 34 16 35
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Pgm5 34
  • 90.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PGM5 35
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PGM5 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGM5 34 35
  • 80.6 (n)
lizard
(Anolis carolinensis)
Reptilia PGM5 35
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pgm5 34 35
  • 72.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pgm 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05F9.6 36 35
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGM2 35
  • 43 (a)
ManyToMany
PGM1 35
  • 41 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G70730 34
  • 54.91 (n)
rice
(Oryza sativa)
Liliopsida Os03g0712700 34
  • 56.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6075 35
  • 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)

Paralogs for PGM5 Gene

Paralogs for PGM5 Gene

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

Pseudogenes.org Pseudogenes for PGM5 Gene

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

Variants for PGM5 Gene

Sequence variations from dbSNP and Humsavar for PGM5 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000011957 -- 68,518,228(+) AGACT(A/G)TACTC intron-variant
rs1000021110 -- 68,517,176(+) ACTGC(A/G)CCTAG intron-variant
rs1000037025 -- 68,481,747(+) AATAC(A/T)GATTT intron-variant
rs1000063338 -- 68,473,630(+) GAATT(C/T)ATCCT intron-variant
rs1000179827 -- 68,480,178(+) GAGAG(C/T)CGTGC intron-variant

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)

Relevant External Links for PGM5 Gene

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

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

Disorders for PGM5 Gene

Relevant External Links for PGM5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGM5

No disorders were found for PGM5 Gene.

No data available for MalaCards , 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 E.P. … Critchley D.R. (Eur. J. Biochem. 1996) 2 3 4 22 64
  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 E.P. … Critchley D.R. (Eur. J. Biochem. 1997) 3 4 22 64
  3. A novel human phosphoglucomutase (PGM5) maps to the centromeric region of chromosome 9. (PMID: 8586438) Edwards Y.H. … Ives J.H. (Genomics 1995) 2 3 22 64
  4. Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles. (PMID: 10867799) Wakayama Y. … Oniki H. (Acta Neuropathol. 2000) 3 22 64
  5. Localization of utrophin and aciculin at sites of cell-matrix and cell-cell adhesion in cultured cells. (PMID: 7589238) Belkin A.M. … Burridge K. (Exp. Cell Res. 1995) 3 22 64

Products for PGM5 Gene

Sources for PGM5 Gene

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