phosphoglucomutase 1

Summary
Gene Symbol
  • PGM1
Organism
Homo sapiens (human)
External Links
NCBI Gene
5236
HGNC
8905
KEGG Gene ID
hsa:5236
PubChem
5236
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Cytoplasm
  • Disease variant
  • Glucose metabolism
  • Glycogen storage disease
  • Isomerase
  • Magnesium
  • Metal-binding
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
P36871
  • Glucose phosphomutase 1
B4DDQ8
B7Z6C2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000079739

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01835
Name
phosphoglucomutase [EC:5.4.2.2]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 192 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050570 congenital disorder of glycosylation type I
DOID:0050700 cardiomyopathy
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060728 NGLY1-deficiency
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0070161 hereditary sensory and autonomic neuropathy type 2
DOID:0070218 familial hyperinsulinemic hypoglycemia 2
DOID:0070219 familial hyperinsulinemic hypoglycemia 1
The Human Phenotype Ontology
Displaying entries 31 - 40 of 43 in total
HPO ID HPO Term
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003160 Abnormal isoelectric focusing of serum transferrin
HP:0003201 Rhabdomyolysis
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003546 Exercise intolerance
HP:0003645 Prolonged partial thromboplastin time
HP:0004322 Short stature
HP:0005305 Cerebral venous thrombosis
HP:0006568 Increased hepatic glycogen content
HP:0008151 Prolonged prothrombin time
Displaying 1 entry
Disease ID Disease Name
OMIM:614921
  • PGM1-congenital disorder of glycosylation

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024