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FLASH GENE
Symbol HK1 contributors: mct/npt - updated : 19-04-2010
HGNC name hexokinase 1
HGNC id 4922
Corresponding disease
HK1 hemolytic anemia including type I
HMSNR hereditary motor and sensory neuropathy, Russe type
Location 10q22.1      Physical location : 71.029.755 - 71.161.635
Synonym name
  • brain form hexokinase
  • glycolytic enzyme
  • Synonym symbol(s) HK1-ta, HK1-tb, HKI, HXK1, HK1-tc
    EC.number 2.7.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 131.88 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure five exons, five in 5'utr, one in intron 1 (Ruzzo)
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389975 10 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene MAWBP 10q21.1 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene HNRPH3 10q22 heterogeneous nuclear ribonucleoprotein H3 (2H9) RUFY2 10q22.2 RUN and FYVE domain containing 2 DNA2L 10q21.3-q22.1 DNA2 DNA replication helicase 2-like (yeast) SLC25A16 10q21.3-q22.1 solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 LCX 10q21 leukemia-associated protein with a CXXC domain CARP-1 10q22.1 cell-cycle and apoptosis regulatory protein 1 C10orf24 10q22.1 chromosome 10 open reading frame 24 DDX50 10q22.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DDX21 10q21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 KIAA1279 10q22.1 KIAA1279 LOC389976 10 similar to actin 3 - fruit fly (Drosophila melanogaster) (fragments) PRG1 10q22.1 proteoglycan 1, secretory granule VPS26 10q21.1 vacuolar protein sorting 26 (yeast) SUPV3L1 10q22.1 suppressor of var1, 3-like 1 (S. cerevisiae) FLJ22761 10q22.1 hypothetical protein FLJ22761 HK1 10q22 hexokinase 1 TACR2 10q22.1 tachykinin receptor 2 NET-7 10q22.1 transmembrane 4 superfamily member tetraspan NET-7 NEUROG3 10q21.3 neurogenin 3 C10orf35 10q22.2 chromosome 10 open reading frame 35 LOC389977 10 similar to ribosomal protein L5; 60S ribosomal protein L5 COL13A1 10q21.2-q22.1 collagen, type XIII, alpha 1 LOC387686 10 LOC387686 H2AFY2 10q22.3 H2A histone family, member Y2 AMID 10q22.2 apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death MGC34695 10q22.2 hypothetical protein MGC34695
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 3617 - 917 - Nishi, Daniele (1992)
    also called variant 1 (HKI)
    18 initiation site 3614 - 916 erythroid specific Murakami, Ruzzo, Daniele (1992)
    also called variant 2 or HKI-R
    - splicing initiation site - - - testis specific Andreoni, Ruzzo
    also called HK-T1
    - splicing 630 - - testis specific Ruzzo
    also called T2A-T2
    - splicing 620 - - testis specific -
    also called T2A-T3
    - splicing 760 - - - -
    also called T2A-T6
    21 - 3832 - 921 - Skaff, Daniele (1992)
  • also called variant 3 or HKI-ta
  • includes four testis-specific exons in the 5' end
  • 21 - 3886 - 921 - Skaff, Daniele (1992)
  • also called variant 4 or HKI-tb
  • four testis-specific exons in the 5' end
  • 22 - 3979 - 905 - Skaff, Daniele (1992)
  • also called variant 5 or HKI-td
  • five testis-specific exons in the 5' end
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systembreastmammary gland highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage universally (HK1),erythroid cells (other isoform)
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • regulatory region including a mitochondrial porin-binding domain at the N terminal, protein domain responsible for binding to the outer mitochondrial membrane, and regulation of energy production and apoptosis (Hantke 2009)
  • a catalytic half carboxy-terminal
  • HOMOLOGY
    interspecies homolog to rattus Hk1
    Homologene
    FAMILY
  • hexokinase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • key enzymes of glycolysis that catalyzes the phosphorylation of glucose to glucose-6-phosphate (de Vooght 2009)
  • may influence A1C levels through its anemic effect or its effect on glucose metabolism in red blood cells (Bonnefond 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding HDAC1, in the outer mitochondrial membrane (VDAC1-based peptides interfering with HK-mediated anti-apoptotic activity may potentiate the efficacy of conventional chemotherapeutic agents)(Arzoine 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HK1 , HMSNR
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    reduced erythroid transcription of HK1 together with aberrant splicing of both HK1 and red cell specific-hexokinase results in hexokinase deficiency and mild chronic hemolysis (de Vooght 2009)
    Susceptibility to variation of glycated hemoglobin levels in a non-diabetic population
    Variant & Polymorphism other association between glycated hemoglobin levels and HK1 polymorphisms (Pare 2008)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS