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FLASH GENE
Symbol GALK1 contributors: - updated : 07-08-2007
HGNC name galactokinase 1
HGNC id 4118
Corresponding disease
GALK1D galactosemia, type 2
Location 17q24      Physical location : 73.754.018 - 73.761.280
Synonym symbol(s) GK1, GALK ,GAL1
EC.number 2.7.1.6
DNA
TYPE functioning gene
STRUCTURE 7.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
GGA3 17q25.3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 MRPS7 17q23-25 mitochondrial ribosomal protein S7 AD023 17q25.2 AD023 protein SLC25A19 17q25.3 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 GRB2 17q24.3-q25 growth factor receptor-bound protein 2 KIAA0195 17q25.3 growth factor receptor-bound protein 2 CASKIN2 17q25.3 CASK interacting protein 2 LOC283989 17q25.3 hypothetical protein LOC283989 LLGL2 17q24-q25 lethal giant larvae homolog 2 (Drosophila) MYO15B 17q25 myosin XVB, pseudogene LOC390815 17 similar to Myosin XV (Unconventional myosin-15) RECQL5 17q25 RecQ protein-like 5 HCNGP 17q25.3 transcriptional regulator protein ITGB4 17q24.3 integrin, beta 4 GALK1 17q24 galactokinase 1 H3F3B 17q25 H3 histone, family 3B (H3.3B) KIAA1753 17q25.3 KIAA1753 protein UNC13D 17q25.3 unc-13 homolog D (C. elegans) WBP2 17q25 WW domain binding protein 2 TRIM47 17q24.q25 tripartite motif-containing 47 LOC201292 17q25.3 hypothetical protein LOC201292 MRPL38 17q23-q25 mitochondrial ribosomal protein L38 FBF-1 17q25.3 Fas binding protein 1 ACOX1 17q25.1 acyl-Coenzyme A oxidase 1, palmitoyl CDK3 17q25 cyclin-dependent kinase 3 EVPL 17q24.2-q24.3 envoplakin SRP68 17q25,1 signal recognition particle 68kDa GALR2 17q25.3 galanin receptor 2 LGICZ 17q25.3 ligand-gated ion channel subunit EXO70 17q25.3 ligand-gated ion channel subunit FOXJ1 17q forkhead box J1 KIAA1917 17q25.3 KIAA1917 protein
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrineparathyroid   highly
Lymphoid/Immunetonsils   highly
Nervousbrain    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal domain dominated by a six-stranded mixed beta-sheet
  • C-terminal motif with six alpha-helices and two layers of anti-parallel beta-sheet
  • HOMOLOGY
    Homologene
    FAMILY GHMP kinase family, GALK subfamily
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION major enzyme for galactose metabolism
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GALK1D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS