Property Summary

NCBI Gene PubMed Count 33
Grant Count 43
R01 Count 30
Funding $5,606,224.78
PubMed Score 362.52
PubTator Score 273.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
pediatric high grade glioma 1.200 0.000
pilocytic astrocytoma 1.200 0.000
posterior fossa group A ependymoma 1.300 0.000

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)

PMID Text
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.
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AA Sequence

MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKD      1 - 70
GLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLS     71 - 140
SSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSL    141 - 210
VPLSDPKLAVLITNSNVRHSLASSEYPVRRRQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARH    211 - 280
VVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGG    281 - 350
CTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL                                351 - 392
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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.
More...