glucose-6-phosphatase catalytic subunit 1

Summary
Gene Symbol
  • G6PC1
Aliases
  • GSD1a
  • glycogen storage disease type I, von Gierke disease
Organism
Homo sapiens (human)
External Links
NCBI Gene
2538
HGNC
4056
PubChem
2538
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Gluconeogenesis
  • Glycogen storage disease
  • Glycoprotein
  • Hydrolase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P35575
  • Glucose-6-phosphatase
  • Glucose-6-phosphatase alpha
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000131482

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.

Disease
Disease Ontology
Displaying entries 1 - 10 of 139 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050590 severe congenital neutropenia
DOID:0050782 Zollinger-Ellison syndrome
DOID:0060262 gallbladder disease
DOID:0060357 chylomicron retention disease
DOID:0110741 type 1 diabetes mellitus 2
DOID:0110742 type 1 diabetes mellitus 3
DOID:0110743 type 1 diabetes mellitus 4
DOID:0110744 type 1 diabetes mellitus 5
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000093 Proteinuria
HP:0000097 Focal segmental glomerulosclerosis
HP:0000105 Enlarged kidney
HP:0000295 Doll-like facies
HP:0000660 Lipemia retinalis
HP:0000787 Nephrolithiasis
HP:0000822 Hypertension
HP:0000823 Delayed puberty
HP:0000939 Osteoporosis
Displaying 1 entry
Disease ID Disease Name
OMIM:232200
  • glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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