Property Summary

NCBI Gene PubMed Count 33
PubMed Score 362.52
PubTator Score 273.59

Knowledge Summary


No data available


  Disease (5)


  Differential Expression (3)

Disease log2 FC p
pediatric high grade glioma 1.200 8.2e-05
pilocytic astrocytoma 1.200 4.8e-06
posterior fossa group A ependymoma 1.300 7.7e-08

Protein-protein Interaction (1)

MLP Assay (7)

AID Type Active / Inconclusive / Inactive Description
1868 confirmatory 19 / 139 / 274750 qHTS Assay for Inhibitors of Human Galactokinase (GALK)
2015 confirmatory 99 / 30 / 18 Confirmation Assay for Inhibitors of Human Galactokinase (GALK)
2114 summary 12 / 0 / 2 qHTS Assay for Inhibitors of Human Galactokinase (GALK): Summary
2499 confirmatory 21 / 8 / 14 Confirmation Assay for Inhibitors of Human Galactokinase (GALK): probe SAR
493188 confirmatory 8 / 11 / 6 Confirmation Assay for Inhibitors of Human Galactokinase (GALK): SAR round 2
493189 confirmatory 3 / 7 / 1270 qHTS Validation Assay for Inhibitors of Human Galactokinase (GALK)
720664 other 23 / 39 / 127 qHTS for Inhibitors of Human Galactokinase (GALK): SAR round 3

Gene RIF (22)

24211322 The GALK1 gene was included in this interval and direct sequencing.
23517731 Data indicate taht the interactions between galactokinase (GALK) and its potential inhibitors by molecular dynamics simulations.
22632133 The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population.
21264483 A possible mechanism for the unfolding caused by the Pro(28)Thr point mutation of human galactokinase.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20405025 Pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families, are reported.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19309526 These results suggest that the elevated GALK1 activity resulted from enhanced gene expression, due to nucleotide variation within GALK1 promoter
19309526 Observational study of gene-disease association. (HuGE Navigator)
17517531 Mutations in GALK1 resulted in reduction of GALK activity and caused GALK deficiency.
15590630 active site geometry of this enzyme upon which to more fully understand the consequences of the those mutations known to give rise to Type II galactosemia.
15590630 Structure of the human enzyme complexed with MgAMP.PNP and galactose
15526155 structure and function of galactokinase, and role in type II galactosemia [review]
15003454 The disease-causing point mutations in the human enzyme are mapped onto the structure of the protein from Pyrococcus furiosus and speculations made about the structural consequences.
14596685 2-deoxy-D-galactose is a substrate for this enzyme. D-glucose, D-fucose, L-arabinose and N-acetyl-D-galactosamine are not. Mutations H44A, H44I, E43G/H44I are insoluble, D46A is inactive, E43G has reduced activity and E43A has wild-type activity.
12942049 Observational study of gene-disease association. (HuGE Navigator)
12942049 In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles.
12694189 a functional analysis of disease-causing mutations in this enzyme
12694189 Has ordered ternary complex mechanism with ATP being the first substrate to bind.
11978884 Observational study of genotype prevalence. (HuGE Navigator)
11978883 2 new GALK1 mutations near the ATP-binding site were found in a homozygotic Turkish immigrant: S142I and G148C.
11231902 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (38)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24211322 2014 Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
23517731 2013 Static and dynamic interactions between GALK enzyme and known inhibitors: guidelines to design new drugs for galactosemic patients.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22632133 2012 Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
21269460 2011 Initial characterization of the human central proteome.
21264483 2011 The effect of a Pro²?Thr point mutation on the local structure and stability of human galactokinase enzyme-a theoretical study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20405025 2010 Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19309526 2009 A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17517531 2007 Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15590630 2005 Molecular structure of human galactokinase: implications for type II galactosemia.
15526155 2004 Galactokinase: structure, function and role in type II galactosemia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15024738 2004 Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
15003454 2004 Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14596685 2003 Sugar recognition by human galactokinase.
12942049 2003 Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
12694189 2003 Functional analysis of disease-causing mutations in human galactokinase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11978884 2002 The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
11978883 2002 An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
11231902 2001 A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
11139256 2001 Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
10790206 2000 Novel mutations in 13 probands with galactokinase deficiency.
10570908 1999 Molecular characterization of galactokinase deficiency in Japanese patients.
10521295 1999 A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
8908517 1996 Fine structure of the human galactokinase GALK1 gene.
7670469 1995 Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
7542884 1995 Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.
6263522 1981 Characterization of galactose-1-phosphate uridyl-transferase and galactokinase in human organs from the fetus and adult.