galactokinase 1

Summary
Gene Symbol
  • GALK1
Organism
Homo sapiens (human)
External Links
NCBI Gene
2584
KEGG Gene ID
hsa:2584
PubChem
2584
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Cataract
  • Direct protein sequencing
  • Disease variant
  • Galactose metabolism
  • Kinase
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
P51570
  • Galactose kinase
V9HWE7
  • Galactose kinase
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000108479

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
K00849
Name
galactokinase [EC:2.7.1.6]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 74 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0060733 junctional epidermolysis bullosa with pyloric atresia
DOID:0060738 junctional epidermolysis bullosa non-Herlitz type
DOID:0080199 colorectal carcinoma
DOID:0080510 epidermolysis bullosa simplex localized type
DOID:0110227 cataract 32 multiple types
DOID:0110228 cataract 8 multiple types
DOID:0110229 cataract 6 multiple types
DOID:0110230 cataract 34 multiple types
DOID:0110231 cataract 1 multiple types
The Human Phenotype Ontology
Displaying entries 21 - 29 of 29 in total
HPO ID HPO Term
HP:0006579 Prolonged neonatal jaundice
HP:0008209 Premature ovarian insufficiency
HP:0011098 Speech apraxia
HP:0011968 Feeding difficulties
HP:0012023 Galactosuria
HP:0012024 Hypergalactosemia
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0012768 Neonatal asphyxia
HP:0100018 Nuclear cataract
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79237
  • galactokinase deficiency
OMIM:230200
  • galactokinase deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024