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Tbio
PGM1
Phosphoglucomutase-1

Protein Summary
Description
This enzyme participates in both the breakdown and synthesis of glucose. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000371083
  • ENSP00000360124
  • ENSG00000079739
  • ENST00000371084
  • ENSP00000360125
  • ENST00000540265
  • ENSP00000443449

Symbol
  • CDG1T
  • GSD14
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
1
protein domain
0.92
kinase perturbation
0.91
ligand (protein) perturbation
0.83
histone modification site profile
0.8


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 600.86   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 215   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 600.86   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 215   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
3
2
2
1.1
86.6
1
1
0
1.2
61.8
cortical surface area measurement
1
1
0
32.9
19.8
alcohol drinking
1
1
1
6.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
1.1
86.6
0
1.2
61.8
cortical surface area measurement
0
32.9
19.8
alcohol drinking
1
6.7
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
phosphoglucomutase 1
VGNC:11613
456908
Macaque
phosphoglucomutase 1
699401
Mouse
MGI:97565
72157
Rat
RGD:3316
24645
Dog
phosphoglucomutase 1
VGNC:44463
479545
Species
Name
OMA
EggNOG
Inparanoid
Chimp
phosphoglucomutase 1
Macaque
phosphoglucomutase 1
Mouse
Rat
Dog
phosphoglucomutase 1
Protein Structure (10 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P36871-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 10
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (31)
Defective PGM1 causes PGM1-CDG (CDG1t) (R-HSA-5609974)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 11
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective PGM1 causes PGM1-CDG (CDG1t)
Reactome
Disease
Reactome
Diseases associated with glycosylation precursor biosynthesis
Reactome
Diseases of glycosylation
Reactome
Glycogen metabolism
Name
Explore in Pharos
Explore in Source
Defective PGM1 causes PGM1-CDG (CDG1t)
Disease
Diseases associated with glycosylation precursor biosynthesis
Diseases of glycosylation
Glycogen metabolism
Gene Ontology Terms (16)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Protein-Protein Interactions (228)
1 – 10 of 228
GPI
Tbio
Family: Enzyme
Novelty: 0.00095404
Score: 0.997
Data Source: STRINGDB
PGM2
Tbio
Family: Enzyme
Novelty: 0.00922421
Score: 0.997
Data Source: STRINGDB
UGP2
Tbio
Family: Enzyme
Novelty: 0.00760963
Score: 0.988
Data Source: STRINGDB
PYGL
Tchem
Family: Enzyme
Novelty: 0.01157477
Score: 0.98
Data Source: STRINGDB
PYGM
Tchem
Family: Enzyme
Novelty: 0.00507768
Score: 0.978
Data Source: STRINGDB
PYGB
Tbio
Family: Enzyme
Novelty: 0.00224148
Score: 0.972
Data Source: STRINGDB
AGL
Tbio
Novelty: 0.00166875
Score: 0.966
Data Source: STRINGDB
IDH1
Tclin
Family: Enzyme
Novelty: 0.0004831
Score: 0.964
Data Source: STRINGDB
H6PD
Tbio
Novelty: 0.00366637
Score: 0.959
Data Source: STRINGDB
PGM2L1
Tbio
Family: Enzyme
Novelty: 0.2162449
Score: 0.959
Data Source: STRINGDB
Publication Statistics
PubMed Score  600.86

PubMed score by year
PubTator Score  436.39

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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