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 61 - 70 of 192 in total
DO ID Disease Name Source
DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B
DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E
DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F
DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6
DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2
DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1
DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5
DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3
DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4
DOID:0110213 isolated cleft palate
The Human Phenotype Ontology
Displaying entries 41 - 43 of 43 in total
HPO ID HPO Term
HP:0012115 Hepatitis
HP:0012378 Fatigue
HP:0200123 Chronic hepatitis
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