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Aliases for PGM1 Gene

Aliases for PGM1 Gene

  • Phosphoglucomutase 1 2 3 5
  • Glucose Phosphomutase 1 3 4
  • PGM 1 3 4
  • Phosphoglucomutase-1 3
  • EC 4
  • CDG1T 3
  • GSD14 3

External Ids for PGM1 Gene

Previous GeneCards Identifiers for PGM1 Gene

  • GC01P063990
  • GC01P062978
  • GC01P063416
  • GC01P063428
  • GC01P063770
  • GC01P063831
  • GC01P064058
  • GC01P062166

Summaries for PGM1 Gene

Entrez Gene Summary for PGM1 Gene

  • The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

GeneCards Summary for PGM1 Gene

PGM1 (Phosphoglucomutase 1) is a Protein Coding gene. Diseases associated with PGM1 include Congenital Disorder Of Glycosylation, Type It and Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Galactose metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphoglucomutase activity. An important paralog of this gene is PGM5.

UniProtKB/Swiss-Prot for PGM1 Gene

  • This enzyme participates in both the breakdown and synthesis of glucose.

Gene Wiki entry for PGM1 Gene

Additional gene information for PGM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGM1 Gene

Genomics for PGM1 Gene

GeneHancer (GH) Regulatory Elements for PGM1 Gene

Promoters and enhancers for PGM1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J063592 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 539 2.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 ITGB3BP PGM1 GC01M063589 RPSAP65 EFCAB7 GC01M063608
GH01J063615 Enhancer 0.8 Ensembl ENCODE 11.9 +22.7 22725 0.4 CTCF ZNF654 HLF TRIM22 CEBPB REST CEBPG RAD21 RFX5 SMC3 ITGB3BP PGM1 GC01M063608 GC01P063618
GH01J064245 Enhancer 0.8 Ensembl ENCODE 10.5 +652.4 652425 0.6 CTCF ZBTB6 MAX ELF1 ZNF518A GABPA YY1 SP1 EGR1 SETDB1 UBE2U ITGB3BP PGM1 GC01M064169 GC01M064282
GH01J063701 Enhancer 0.7 ENCODE 9.8 +107.9 107948 0.9 FOXA2 MLX RARA FOSL2 GATAD2A FOXA3 USF2 HMG20A REST ETV5 ROR1 ITGB3BP PGM1 GC01M063690 LOC105378771 GC01M063731
GH01J063639 Enhancer 0.9 ENCODE 4.5 +48.6 48595 4.8 FOXA2 INSM2 MZF1 RARA YY1 CREM MIXL1 KLF11 RXRA SP5 ROR1 RN7SL130P PGM1 GC01P063624
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGM1 gene promoter:
  • FOXJ2 (long isoform)
  • FOXJ2
  • TBP
  • Pax-3
  • ZID
  • MRF-2
  • C/EBPbeta
  • GATA-3
  • Evi-1
  • GATA-6

Genomic Locations for PGM1 Gene

Genomic Locations for PGM1 Gene
66,970 bases
Plus strand
66,970 bases
Plus strand

Genomic View for PGM1 Gene

Genes around PGM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGM1 Gene

Proteins for PGM1 Gene

  • Protein details for PGM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R5N9
    • B4DPV0
    • Q16105
    • Q16106
    • Q5BKZ9
    • Q6NW22
    • Q86U74
    • Q96J40
    • Q9NTY4

    Protein attributes for PGM1 Gene

    562 amino acids
    Molecular mass:
    61449 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.
    • Sequence=AAH90856.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PGM1 Gene

    Alternative splice isoforms for PGM1 Gene


neXtProt entry for PGM1 Gene

Post-translational modifications for PGM1 Gene

  • Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity.
  • Ubiquitination at isoforms=2, 3419, Lys349, and isoforms=2146
  • Modification sites at PhosphoSitePlus

Other Protein References for PGM1 Gene

No data available for DME Specific Peptides for PGM1 Gene

Domains & Families for PGM1 Gene

Gene Families for PGM1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphohexose mutase family.
  • Belongs to the phosphohexose mutase family.
genes like me logo Genes that share domains with PGM1: view

Function for PGM1 Gene

Molecular function for PGM1 Gene

UniProtKB/Swiss-Prot Function:
This enzyme participates in both the breakdown and synthesis of glucose.
UniProtKB/Swiss-Prot CatalyticActivity:
Alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Glucose-1,6-bisphosphate enhances phosphorylation of the active site Ser-117, and thereby increases enzyme activity.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=80 uM for alpha-D-glucose 1-phosphate {ECO:0000269 PubMed:25288802};
GENATLAS Biochemistry:
phosphoglucomutase 1,highly polymorphic

Enzyme Numbers (IUBMB) for PGM1 Gene

Phenotypes From GWAS Catalog for PGM1 Gene

Gene Ontology (GO) - Molecular Function for PGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 26972339
GO:0004614 phosphoglucomutase activity EXP,TAS 8257433
GO:0005515 protein binding IPI 21044950
GO:0016853 isomerase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
genes like me logo Genes that share ontologies with PGM1: view
genes like me logo Genes that share phenotypes with PGM1: view

Animal Model Products

miRNA for PGM1 Gene

miRTarBase miRNAs that target PGM1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGM1 Gene

Localization for PGM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGM1 Gene

Isoform 1: Cytoplasm.

Subcellular locations from

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 PGM1 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
mitochondrion 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm NAS 1530890
GO:0005829 cytosol TAS,IBA --
GO:0015629 actin cytoskeleton IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PGM1: view

Pathways & Interactions for PGM1 Gene

genes like me logo Genes that share pathways with PGM1: view

SIGNOR curated interactions for PGM1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PGM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005978 glycogen biosynthetic process IBA,TAS --
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process NAS 1530890
GO:0006094 gluconeogenesis TAS 8257433
genes like me logo Genes that share ontologies with PGM1: view

Drugs & Compounds for PGM1 Gene

(8) Drugs for PGM1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Human calcitonin Approved, Investigational Pharma Enzyme, substrate 0
D-glucose Approved, Vet_approved Pharma 0
Magnesium Approved Nutra 0
Alpha-D-Glucose 1,6-bisphosphate Experimental Pharma Target 0
Alpha-D-Glucose-1-Phosphate-6-Vanadate Experimental Pharma Target 0

(8) Additional Compounds for PGM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5'-phosphate
  • D-Ribose-5-P
  • Ribose 5-phosphate
  • D-Ribose 5'-phosphoric acid
  • D-Ribose 5-phosphoric acid
D-Ribulose 5-phosphate
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphate)
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphoric acid)
  • D-Ribulose 5-phosphoric acid
ribose 1-phosphate
  • 1-O-phosphono-alpha-D-Ribofuranose
  • 1-phospho-alpha-D-Ribofuranose
  • D-Ribose 1-phosphate
  • 1-O-phosphono-a-D-Ribofuranose
  • 1-O-phosphono-α-D-ribofuranose
genes like me logo Genes that share compounds with PGM1: view

Transcripts for PGM1 Gene

mRNA/cDNA for PGM1 Gene

Unigene Clusters for PGM1 Gene

Phosphoglucomutase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGM1 Gene

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

Relevant External Links for PGM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PGM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PGM1 Gene

This gene is overexpressed in Muscle - Skeletal (x14.5).

Protein differential expression in normal tissues from HIPED for PGM1 Gene

This gene is overexpressed in Liver, secretome (10.6) and Tonsil (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PGM1 Gene

Protein tissue co-expression partners for PGM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PGM1 Gene:


SOURCE GeneReport for Unigene cluster for PGM1 Gene:


Evidence on tissue expression from TISSUES for PGM1 Gene

  • Nervous system(4.9)
  • Muscle(4.7)
  • Liver(4.6)
  • Skin(4.6)
  • Kidney(4.5)
  • Heart(3.2)
  • Blood(3.1)
  • Lung(2.8)
  • Intestine(2.7)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PGM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • pharynx
  • heart
  • heart valve
  • adrenal gland
  • liver
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PGM1: view

No data available for mRNA Expression by UniProt/SwissProt for PGM1 Gene

Orthologs for PGM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PGM1 34 33
  • 99.37 (n)
(Canis familiaris)
Mammalia PGM1 34 33
  • 91.15 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
-- 34
  • 73 (a)
-- 34
  • 73 (a)
(Bos Taurus)
Mammalia PGM1 34 33
  • 86.81 (n)
(Mus musculus)
Mammalia Pgm2 16 34 33
  • 85.38 (n)
(Rattus norvegicus)
Mammalia Pgm1 33
  • 84.85 (n)
(Monodelphis domestica)
Mammalia PGM1 34
  • 82 (a)
(Gallus gallus)
Aves PGM1 34 33
  • 78.02 (n)
(Anolis carolinensis)
Reptilia PGM1 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pgm1 33
  • 74.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia pgm2-prov 33
(Danio rerio)
Actinopterygii pgm1 34 33
  • 70.97 (n)
zgc63718 33
fruit fly
(Drosophila melanogaster)
Insecta Pgm 34 35 33
  • 58.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005860 33
  • 57.52 (n)
(Caenorhabditis elegans)
Secernentea R05F9.6 34 35 33
  • 58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL029W 33
  • 54.95 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGM2 36 34 33
  • 53.73 (n)
PGM1 34
  • 50 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12694g 33
  • 53.59 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PGM 33
  • 57.38 (n)
(Glycine max)
eudicotyledons Gma.15483 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.75 33
(Oryza sativa)
Liliopsida Os10g0189100 33
  • 58.24 (n)
(Triticum aestivum)
Liliopsida Ta.24519 33
(Hordeum vulgare)
Liliopsida Hv.804 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6075 34
  • 60 (a)
Cin.5382 33
bread mold
(Neurospora crassa)
Ascomycetes NCU10058 33
  • 54.69 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC32F12.10 33
  • 53.46 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5382 33
Species where no ortholog for PGM1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PGM1 Gene

Gene Tree for PGM1 (if available)
Gene Tree for PGM1 (if available)
Evolutionary constrained regions (ECRs) for PGM1: view image

Paralogs for PGM1 Gene

Paralogs for PGM1 Gene

(1) SIMAP similar genes for PGM1 Gene using alignment to 2 proteins:

  • Q9H1D2_HUMAN
genes like me logo Genes that share paralogs with PGM1: view

Variants for PGM1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PGM1 Gene

Many polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here.

Sequence variations from dbSNP and Humsavar for PGM1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs10909 likely-benign, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1t 63,659,873(+) C/T 3_prime_UTR_variant
rs11208257 benign, Congenital disorder of glycosylation type 1t, Congenital disorder of glycosylation, not specified 63,648,630(+) T/C coding_sequence_variant, missense_variant
rs1126727 likely-benign, benign, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1t, not specified 63,629,577(+) T/C 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1126728 likely-benign, benign, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1t, not specified 63,631,761(+) C/T coding_sequence_variant, missense_variant
rs115864084 likely-benign, benign, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1t, not specified 63,654,475(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PGM1 Gene

Variant ID Type Subtype PubMed ID
esv2749063 CNV deletion 23290073
nsv1143 CNV insertion 18451855

Variation tolerance for PGM1 Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.88; 98.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGM1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for PGM1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PGM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type it
  • cdg1t
congenital disorder of glycosylation, type in
  • cdg1n
fetal macrosomia
lymphoplasmacyte-rich meningioma
  • lymphoplasmocyte-rich meningioma
secondary adrenal insufficiency
  • hypocortisolism secondary to another disorder
- elite association - COSMIC cancer census association via MalaCards
Search PGM1 in MalaCards View complete list of genes associated with diseases


  • Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:19625727, ECO:0000269 PubMed:22492991, ECO:0000269 PubMed:22976764, ECO:0000269 PubMed:24499211, ECO:0000269 PubMed:25288802, ECO:0000269 PubMed:26972339}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PGM1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PGM1: view

No data available for Genatlas for PGM1 Gene

Publications for PGM1 Gene

  1. Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1. (PMID: 1530890) Whitehouse DB … Edwards YH (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 22 58
  2. Regulation of phosphoglucomutase 1 phosphorylation and activity by a signaling kinase. (PMID: 15378030) Gururaj A … Kumar R (Oncogene 2004) 3 4 22 58
  3. Intragenic recombination at the human phosphoglucomutase 1 locus: predictions fulfilled. (PMID: 7902567) Takahashi N … Neel JV (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22 58
  4. The classical human phosphoglucomutase (PGM1) isozyme polymorphism is generated by intragenic recombination. (PMID: 7902568) March RE … Whitehouse DB (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22 58
  5. Phosphoglucomutase 1: a gene with two promoters and a duplicated first exon. (PMID: 8257433) Putt W … Edwards YH (The Biochemical journal 1993) 3 4 22 58

Products for PGM1 Gene

Sources for PGM1 Gene

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