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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
  • EC 5.4.2.2 63

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGM5 Gene

Genomics for PGM5 Gene

Regulatory Elements for PGM5 Gene

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

Proteomics data for PGM5 Gene at MOPED

Selected DME Specific Peptides for PGM5 Gene

Post-translational modifications for PGM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PGM5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

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

Animal Model Products

miRNA for PGM5 Gene

miRTarBase miRNAs that target PGM5

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PGM5 Gene COMPARTMENTS Subcellular localization image for PGM5 gene
Compartment Confidence
cytoskeleton 3
cytosol 3

Gene Ontology (GO) - Cellular Components for PGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 NOT cytosol IBA --
GO:0005913 cell-cell adherens junction IDA 8175905
GO:0005914 spot adherens junction IDA 8175905
GO:0005925 focal adhesion IDA 8175905
GO:0009898 cytoplasmic side of plasma membrane IDA 10867799
genes like me logo Genes that share ontologies with PGM5: view

Pathways & Interactions for PGM5 Gene

SuperPathways for PGM5 Gene

Superpath 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:0006006 NOT glucose metabolic 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:

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 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, MOPED, and MaxQB for PGM5 Gene



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).
genes like me logo Genes that share expression patterns with PGM5: view

Protein tissue co-expression partners for PGM5 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PGM5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGM5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PGM5 35
  • 93.3 (n)
  • 98.06 (a)
PGM5 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PGM5 35
  • 91.81 (n)
  • 97.29 (a)
PGM5 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgm5 35
  • 90.83 (n)
  • 97.53 (a)
Pgm5 16
Pgm5 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC472942 35
  • 99.12 (n)
  • 98.94 (a)
PGM5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pgm5 35
  • 90.36 (n)
  • 97.71 (a)
oppossum
(Monodelphis domestica)
Mammalia PGM5 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGM5 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGM5 35
  • 80.6 (n)
  • 88.54 (a)
PGM5 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PGM5 36
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pgm5 35
  • 72.73 (n)
  • 77.21 (a)
pgm5 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pgm 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R05F9.6 37
  • 53 (a)
R05F9.6 36
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGM1 36
  • 41 (a)
ManyToMany
PGM2 36
  • 43 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G70730 35
  • 54.91 (n)
  • 54.07 (a)
rice
(Oryza sativa)
Liliopsida Os03g0712700 35
  • 56.02 (n)
  • 52.37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6075 36
  • 54 (a)
OneToMany
Species with no ortholog for PGM5:
  • 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
rs97981 -- 68,370,129(+) GCTGT(A/G)TGGTC intron-variant
rs366804 -- 68,411,488(+) tgtgt(A/G/T)tatat intron-variant
rs370839 -- 68,415,598(-) AATGA(A/C)ATGAA intron-variant
rs371367 -- 68,522,509(+) CTGGC(A/G)TAGCG intron-variant
rs372581 -- 68,360,180(-) GCAAT(C/T)ACATA intron-variant

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

Variant ID Type Subtype PubMed ID
essv2899 CNV CNV 17122850
dgv2383e1 CNV Complex 17122850
dgv8238n71 CNV Gain 21882294
dgv2384e1 CNV Complex 17122850
dgv2385e1 CNV Complex 17122850
nsv428218 CNV Loss 18775914
dgv8240n71 CNV Gain 21882294
nsv831609 CNV Gain 17160897
nsv8519 CNV Gain 18304495
nsv8520 CNV Gain 18304495
nsv8521 CNV Loss 18304495
dgv8241n71 CNV Gain 21882294
dgv8242n71 CNV Gain 21882294
nsv893414 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
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 23 67
  2. 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 23
  3. 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 23
  4. 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 23
  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 23

Products for PGM5 Gene

Sources for PGM5 Gene

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