hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

Summary
Gene Symbol
  • H6PD
Aliases
  • 6-phosphogluconolactonase
  • GDH/6PGL endoplasmic bifunctional protein
  • H6PDH
Organism
Homo sapiens (human)
External Links
NCBI Gene
9563
HGNC
4795
KEGG Gene ID
hsa:9563
PubChem
9563
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • Glucose metabolism
  • Glycoprotein
  • Hydrolase
  • Multifunctional enzyme
  • NAD
  • NADP
  • Oxidoreductase
  • Pyrrolidone carboxylic acid
  • Reference proteome
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
O95479
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000049239

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
K13937
Name
hexose-6-phosphate dehydrogenase [EC:1.1.1.47 3.1.1.31]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 55 in total
DO ID Disease Name Source
DOID:0050572 cone-rod dystrophy
DOID:0050782 Zollinger-Ellison syndrome
DOID:0060262 gallbladder disease
DOID:0060548 luminal breast carcinoma A
DOID:0090122 aromatase excess syndrome
DOID:0090139 cortisone reductase deficiency
DOID:0090141 cortisone reductase deficiency 1
DOID:0111005 cone-rod dystrophy 2
DOID:10241 thalassemia
DOID:10652 Alzheimer's disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000789 Infertility
HP:0000826 Precocious puberty
HP:0000876 Oligomenorrhea
HP:0001007 Hirsutism
HP:0001061 Acne
HP:0001513 Obesity
HP:0001596 Alopecia
HP:0003581 Adult onset
HP:0003596 Middle age onset
Displaying 1 entry
Disease ID Disease Name
OMIM:604931
  • cortisone reductase deficiency 1

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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