hexokinase 1

Summary
Gene Symbol
  • HK1
Organism
Homo sapiens (human)
External Links
NCBI Gene
3098
HGNC
4922
KEGG Gene ID
hsa:3098
PubChem
3098
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Allosteric enzyme
  • Alternative splicing
  • Charcot-Marie-Tooth disease
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Glycolysis
  • Inflammatory response
  • Innate immunity
  • Intellectual disability
  • Kinase
  • Mitochondrion outer membrane
  • Neurodegeneration
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Retinitis pigmentosa
Proteins
Displaying all 6 entries
UniProt Protein Name
B3KXY9
  • Hexokinase type I
P19367
  • Brain form hexokinase
  • Hexokinase type I
  • Hexokinase-A
A0A994J753
  • Hexokinase type I
Q59FD4
  • Hexokinase type I
A8K7J7
  • Hexokinase type I
P78542
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000156515

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
K00844
Name
hexokinase [EC:2.7.1.1]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 246 in total
DO ID Disease Name Source
DOID:0050524 maturity-onset diabetes of the young
DOID:0050534 congenital stationary night blindness
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050572 cone-rod dystrophy
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050635 alternating hemiplegia of childhood
DOID:0050819 obsolete Matthew-Wood syndrome
DOID:0050865 tongue squamous cell carcinoma
DOID:0060326 myelomeningocele
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
The Human Phenotype Ontology
Displaying entries 1 - 10 of 96 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000219 Thin upper lip vermilion
HP:0000286 Epicanthus
HP:0000365 Hearing impairment
HP:0000414 Bulbous nose
HP:0000463 Anteverted nares
HP:0000473 Torticollis
HP:0000483 Astigmatism
HP:0000486 Strabismus
Displaying all 5 entries
Disease ID Disease Name
ORPHA:99953
  • Charcot-Marie-Tooth disease type 4G
OMIM:618547
  • neurodevelopmental disorder with visual defects and brain anomalies
OMIM:235700
  • non-spherocytic hemolytic anemia due to hexokinase deficiency
OMIM:605285
  • Charcot-Marie-Tooth disease type 4G
OMIM:617460
  • retinitis pigmentosa 79

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Last updated: August 19, 2024