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 31 - 40 of 192 in total
DO ID Disease Name Source
DOID:0110165 Charcot-Marie-Tooth disease type 2E
DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H
DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K
DOID:0110168 Charcot-Marie-Tooth disease type 2Y
DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P
DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q
DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U
DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L
DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O
DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000126 Hydronephrosis
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000201 Pierre-Robin sequence
HP:0000347 Micrognathia
HP:0000403 Recurrent otitis media
HP:0000592 Blue sclerae
HP:0000823 Delayed puberty
HP:0001252 Hypotonia
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