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Aliases for HK1 Gene

Aliases for HK1 Gene

  • Hexokinase 1 2 3 5
  • Brain Form Hexokinase 3 4
  • Hexokinase Type I 3 4
  • Glycolytic Enzyme 3
  • Hexokinase IR 3
  • Hexokinase-1 3
  • Hexokinase 3
  • EC 4
  • HK1-Ta 3
  • HK1-Tb 3
  • HK1-Tc 3
  • HMSNR 3
  • HXK1 3
  • RP79 3
  • HK I 4
  • HKD 3
  • HKI 3
  • HK 3

External Ids for HK1 Gene

Previous GeneCards Identifiers for HK1 Gene

  • GC10P069840
  • GC10P070116
  • GC10P070922
  • GC10P070374
  • GC10P070699
  • GC10P071031
  • GC10P065029

Summaries for HK1 Gene

Entrez Gene Summary for HK1 Gene

  • Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]

GeneCards Summary for HK1 Gene

HK1 (Hexokinase 1) is a Protein Coding gene. Diseases associated with HK1 include Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency and Neuropathy, Hereditary Motor And Sensory, Russe Type. Among its related pathways are Cori Cycle and Central carbon metabolism in cancer. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucokinase activity. An important paralog of this gene is HK2.

Tocris Summary for HK1 Gene

  • Hexokinases catalyze the first essential step of glucose metabolism, the conversion of the substrate glucose into glucose-6-phosphate. This phosphorylation event directly couples extramitochondrial glycolysis to intramitochondrial oxidative phosphorylation.

Gene Wiki entry for HK1 Gene

Additional gene information for HK1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HK1 Gene

Genomics for HK1 Gene

GeneHancer (GH) Regulatory Elements for HK1 Gene

Promoters and enhancers for HK1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J069315 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 678.8 +48.7 48714 7.2 HDGF PKNOX1 SMAD1 FOXA2 ARNT SIN3A ZNF2 POLR2B ZNF213 E2F8 HK1 DDX50 HNRNPH3 CCAR1 TYSND1 SAR1A DDX21 ENSG00000231748 HKDC1 FAM241B
GH10J069278 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 650.4 +8.7 8733 1.4 NFIC MAX SPI1 HK1 HKDC1 RPS15AP28
GH10J069269 Promoter 0.9 EPDnew 650.7 +0.0 2 0.1 HDAC1 MEIS2 HLF CEBPB CEBPG ATF2 IRF9 FOSL1 ATF4 IKZF1 ENSG00000231748 GC10M069261 HK1 RPS15AP28
GH10J069325 Enhancer 1.4 Ensembl ENCODE dbSUPER 18.7 +63.4 63418 16 HDGF PKNOX1 ARNT NEUROD1 SIN3A ZNF2 POLR2B REST ZNF592 SMARCA4 CCAR1 DDX50 SAR1A HK1 RPL26P27 MIR1254-1 ENSG00000231748 TYSND1 DDX21 STOX1
GH10J069407 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +139.6 139561 3.8 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 POLR2B ZNF766 ZNF213 E2F8 CCAR1 DDX50 TACR2 HK1 SAR1A HKDC1 ENSG00000231748 RPL26P27 TSPAN15 SRGN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HK1 gene promoter:
  • Max1
  • c-Myc
  • HNF-4alpha1

Genomic Locations for HK1 Gene

Genomic Locations for HK1 Gene
131,901 bases
Plus strand
131,899 bases
Plus strand

Genomic View for HK1 Gene

Genes around HK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HK1 Gene

Proteins for HK1 Gene

  • Protein details for HK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • E9PCK0
    • O43443
    • O43444
    • O75574
    • Q5VTC3
    • Q96HC8
    • Q9NNZ4
    • Q9NNZ5

    Protein attributes for HK1 Gene

    917 amino acids
    Molecular mass:
    102486 Da
    Quaternary structure:
    • Monomer. Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with VDAC1. The HK1-VDAC1 complex interacts with ATF2. Interacts (via N-terminal spermatogenic cell-specific region) with PFKM (via C-terminus) (By similarity).
    • In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).

    Three dimensional structures from OCA and Proteopedia for HK1 Gene

    Alternative splice isoforms for HK1 Gene


neXtProt entry for HK1 Gene

Post-translational modifications for HK1 Gene

  • Ubiquitination at isoforms=2, 3, 4418, isoforms=2, 3, 4333, and Lys191
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HK1 Gene

Domains & Families for HK1 Gene

Gene Families for HK1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HK1 Gene

Graphical View of Domain Structure for InterPro Entry



  • The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain can bind a single glucose and Gluc-6-P molecule.
  • Belongs to the hexokinase family.
  • The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain can bind a single glucose and Gluc-6-P molecule.
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with HK1: view

Function for HK1 Gene

Molecular function for HK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-hexose = ADP + D-hexose 6-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.
GENATLAS Biochemistry:
hexokinase 1,108kDa,glycolysis and gluconeogenesis,energy pathway,red blood specific with two isoforms HK1,universally expressed,and an erythroid specific isoform AXR derived from the HK1 gene by the alternate use of a specific promoter and an alternative splicing

Enzyme Numbers (IUBMB) for HK1 Gene

Phenotypes From GWAS Catalog for HK1 Gene

Gene Ontology (GO) - Molecular Function for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004340 glucokinase activity TAS --
GO:0004396 hexokinase activity TAS,IMP 27374331
GO:0005515 protein binding IPI 22304920
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HK1: view
genes like me logo Genes that share phenotypes with HK1: view

Human Phenotype Ontology for HK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

  • Addgene plasmids for HK1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HK1 Gene

Localization for HK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HK1 Gene

Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HK1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol IBA,TAS --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with HK1: view

Pathways & Interactions for HK1 Gene

genes like me logo Genes that share pathways with HK1: view

UniProtKB/Swiss-Prot P19367-HXK1_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.

Interacting Proteins for HK1 Gene

SIGNOR curated interactions for HK1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IBA --
GO:0002741 positive regulation of cytokine secretion involved in immune response IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006096 glycolytic process TAS 3207429
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with HK1: view

Drugs & Compounds for HK1 Gene

(26) Drugs for HK1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Vet_approved Pharma Enzyme, substrate 0
glucose Approved, Vet_approved Pharma Enzyme, substrate, inhibitor, inducer 0
Fludeoxyglucose F-18 Approved, Investigational Pharma Enzyme, substrate 0
Galactose Approved, Investigational Pharma 0
Glucosamine Approved, Investigational Nutra 211

(14) Additional Compounds for HK1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
  • D-lyxo-2-Hexulose
  • D-lyxo-Hex-2-ulose
  • D-Tag
  • lyxo-2-Hexulose
  • lyxo-Hexulose
AM 2394

(4) Tocris Compounds for HK1 Gene

Compound Action Cas Number
2-Deoxy-D-glucose Non-metabolizable glucose analog; hexokinase substrate 154-17-6
AM 2394 Potent glucokinase activator; orally bioavailable 1442684-77-6
GKA 50 Glucokinase activator 851884-87-2
Lonidamine Mitochondrial hexokinase inhibitor 50264-69-2

(2) ApexBio Compounds for HK1 Gene

Compound Action Cas Number
2-Deoxy-D-glucose Glycolysis inhibitor 154-17-6
Lonidamine 50264-69-2
genes like me logo Genes that share compounds with HK1: view

Drug Products

Transcripts for HK1 Gene

Unigene Clusters for HK1 Gene

Hexokinase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for HK1

Alternative Splicing Database (ASD) splice patterns (SP) for HK1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - - - - -
SP2: -
SP3: - - -
SP4: - -
SP5: -

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29

Relevant External Links for HK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HK1 Gene

Protein differential expression in normal tissues from HIPED for HK1 Gene

This gene is overexpressed in Brain (12.7), Frontal cortex (7.9), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HK1 Gene

Protein tissue co-expression partners for HK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HK1 Gene:


SOURCE GeneReport for Unigene cluster for HK1 Gene:


mRNA Expression by UniProt/SwissProt for HK1 Gene:

Tissue specificity: Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.

Evidence on tissue expression from TISSUES for HK1 Gene

  • Nervous system(4.9)
  • Lung(3.7)
  • Skin(3.1)
  • Muscle(2.8)
  • Heart(2.7)
  • Liver(2.5)
  • Intestine(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with HK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HK1 Gene

Orthologs for HK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HK1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HK1 34 33
  • 98.9 (n)
(Canis familiaris)
Mammalia HK1 34 33
  • 90.51 (n)
(Bos Taurus)
Mammalia HK1 34 33
  • 89.46 (n)
(Mus musculus)
Mammalia Hk1 16 34 33
  • 86.8 (n)
(Rattus norvegicus)
Mammalia Hk1 33
  • 86.72 (n)
(Ornithorhynchus anatinus)
Mammalia HK1 34
  • 83 (a)
(Monodelphis domestica)
Mammalia HK1 34
  • 74 (a)
(Gallus gallus)
Aves HK1 34 33
  • 79.28 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hk1 33
  • 74.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia hk1-A 33
(Danio rerio)
Actinopterygii hk1 34 33
  • 75.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hex-A 34 35 33
  • 55.28 (n)
Hex-C 34 35
  • 40 (a)
Hex-t2 34 35
  • 37 (a)
Hex-t1 34 35
  • 28 (a)
(Caenorhabditis elegans)
Secernentea F14B4.2 34 35
  • 43 (a)
H25P06.1 35
  • 39 (a)
Y77E11A.1 35
  • 34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR279C 33
  • 51.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11352g 33
  • 47.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HXK2 34 33
  • 46.3 (n)
HXK1 34
  • 31 (a)
GLK1 34
  • 30 (a)
EMI2 34
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HXK2 33
  • 46.51 (n)
(Oryza sativa)
Liliopsida Os01g0742500 33
  • 49.73 (n)
(Zea mays)
Liliopsida Zm.5206 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02542 33
  • 48.2 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hxk1 33
  • 47.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 34
  • 47 (a)
Cin.5346 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5346 33
Species where no ortholog for HK1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HK1 Gene

Gene Tree for HK1 (if available)
Gene Tree for HK1 (if available)
Evolutionary constrained regions (ECRs) for HK1: view image

Paralogs for HK1 Gene

Paralogs for HK1 Gene

(10) SIMAP similar genes for HK1 Gene using alignment to 5 proteins:

  • B1AR61_HUMAN
  • B1AR62_HUMAN
  • B1AR63_HUMAN
genes like me logo Genes that share paralogs with HK1: view

Variants for HK1 Gene

Sequence variations from dbSNP and Humsavar for HK1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs137853249 pathogenic, Hemolytic anemia due to hexokinase deficiency, Hexokinase deficiency (HK deficiency) [MIM:235700] 69,384,348(+) T/C coding_sequence_variant, missense_variant
rs397514654 pathogenic, Neuropathy, hereditary motor and sensory, Russe type 69,278,711(+) G/C genic_upstream_transcript_variant, intron_variant
rs398122379 pathogenic, Hemolytic anemia due to hexokinase deficiency, Hexokinase deficiency (HK deficiency) [MIM:235700] 69,392,128(+) C/G coding_sequence_variant, missense_variant
rs777849213 pathogenic, Retinitis pigmentosa 79, Retinitis pigmentosa 79 (RP79) [MIM:617460] 69,398,758(+) G/A coding_sequence_variant, missense_variant
rs797044964 pathogenic, Neuropathy, hereditary motor and sensory, Russe type 69,278,691(+) G/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HK1 Gene

Variant ID Type Subtype PubMed ID
nsv948055 CNV duplication 23825009
nsv551453 CNV loss 21841781
nsv551452 CNV loss 21841781
nsv524428 CNV loss 19592680
nsv508589 CNV deletion 20534489
nsv472717 CNV novel sequence insertion 20440878
esv3623743 CNV loss 21293372
esv3623742 CNV loss 21293372
esv3623741 CNV loss 21293372
esv3623740 CNV gain 21293372
esv3623739 CNV loss 21293372
esv2759765 CNV loss 17122850
esv2738106 CNV deletion 23290073
esv2669212 CNV deletion 23128226

Variation tolerance for HK1 Gene

Residual Variation Intolerance Score: 3.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HK1 Gene

Disorders for HK1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia, nonspherocytic, due to hexokinase deficiency
  • hemolytic anemia due to hexokinase deficiency
neuropathy, hereditary motor and sensory, russe type
  • hmsnr
retinitis pigmentosa 79
  • rp79
hemolytic anemia
  • anemia hemolytic
poland syndrome
  • poland syndactyly
- elite association - COSMIC cancer census association via MalaCards
Search HK1 in MalaCards View complete list of genes associated with diseases


  • Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. {ECO:0000269 PubMed:12393545, ECO:0000269 PubMed:7655856}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, hereditary motor and sensory, Russe type (HMSNR) [MIM:605285]: An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. {ECO:0000269 PubMed:19536174}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 79 (RP79) [MIM:617460]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP79 inheritance is autosomal dominant. {ECO:0000269 PubMed:25190649, ECO:0000269 PubMed:25316723}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HK1 Gene

hemolytic anemia including type I with a reduced activity of HK1,found in RBC,lymphocytes,platelets,fibroblats,type II with a decreased activity restricted to RBC

Additional Disease Information for HK1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HK1: view

Publications for HK1 Gene

  1. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). (PMID: 19536174) Hantke J … Kalaydjieva L (European journal of human genetics : EJHG 2009) 3 4 22 58
  2. Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits. (PMID: 19651813) Bonnefond A … Froguel P (Diabetes 2009) 3 22 44 58
  3. Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. (PMID: 19096518) Paré G … Ridker PM (PLoS genetics 2008) 3 22 44 58
  4. Crystal structures of mutant monomeric hexokinase I reveal multiple ADP binding sites and conformational changes relevant to allosteric regulation. (PMID: 10686099) Aleshin AE … Honzatko RB (Journal of molecular biology 2000) 3 4 22 58
  5. Structure of the 5' region of the human hexokinase type I (HKI) gene and identification of an additional testis-specific HKI mRNA. (PMID: 10978502) Andreoni F … Magnani M (Biochimica et biophysica acta 2000) 3 4 22 58

Products for HK1 Gene

Sources for HK1 Gene

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