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FLASH GENE
Symbol HK1 contributors: mct/npt - updated : 22-12-2020
HGNC name hexokinase 1
HGNC id 4922
Corresponding disease
HMSNR hereditary motor and sensory neuropathy, Russe type
NEDVIBA neurodevelopmental disorder with visual defects and brain anomalies
RP79 retinitis pigmentosa 79
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 HMSNR, NEDVIBA, RP79, hexokinase
    EC.number 2.7.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 131.90 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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 3617 - 917 - 2000 10978502
    also called variant 1 (HKI)
    18 initiation site 3614 - 916 erythroid specific 2000 10978502
    also called variant 2 or HKI-R
    20 splicing initiation site 3690 - 921 testis specific 2000 10978502
    also called HK-T1
    23 splicing 3995 - 952 testis specific 2000 10978502
    also called T2A-T2
    21 splicing 3493 - 889 testis specific 2000 10978502
    also called T2A-T3
    17 splicing 3506 - 885 - 2000 10978502
    also called T2A-T6
    21 - 3832 - 921 - 2000 10978502
  • also called variant 3 or HKI-ta
  • includes four testis-specific exons in the 5' end
  • 21 - 3886 - 921 - 2000 10978502
  • also called variant 4 or HKI-tb
  • four testis-specific exons in the 5' end
  • 22 - 3979 - 905 - 2000 10978502
  • also called variant 5 or HKI-td
  • five testis-specific exons in the 5' end
    21 - 3998 - 921 - 2000 10978502
    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,outer
    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)
  • is ubiquitylated by PRKN upon dissipation of mitochondrial membrane potential
  • 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)
  • mitochondrial hexokinase I (HK1) is a novel PRKN substrate
  • PRKN-mediated HK1 degradation may inhibit glycolysis, and consequently Parkinís mitochondriallocalization is hindered, suggesting HK1 functions as a negative feedback component
  • in the presence of Ca2+, KCNIP3 interacts with HK1, a protein known to bind mitochondria and regulate apoptosis
  • FUBP1 upregulates the mRNA levels of two hexokinase genes, HK1 and HK2
  • direct, GTP-dependent interaction between KRAS and hexokinase 1 (HK1) that alters the activity of the kinase, and thereby establish that HK1 is an effector of KRAS
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HK1 , HMSNR , RP79 , NEDVIBA
    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
  • overexpression of HK1 may act as a significant biomarker of poor prognosis for patients with colorectal cancer
  • Therapy target
    ANIMAL & CELL MODELS