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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
  • EC 2.7.1.1 4 61
  • HK I 3 4
  • Glycolytic Enzyme 3
  • Hexokinase IR 3
  • Hexokinase I 3
  • Hexokinase-1 3
  • Hexokinase 3
  • EC 2.7.1 61
  • HK1-Ta 3
  • HK1-Tb 3
  • HK1-Tc 3
  • HMSNR 3
  • HXK1 3
  • 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 Due To Hexokinase Deficiency and Neuropathy, Hereditary Motor And Sensory, Russe Type. Among its related pathways are Citrate cycle (TCA cycle) and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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

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

Regulatory Elements for HK1 Gene

Enhancers for HK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G069315 1.7 FANTOM5 ENCODE dbSUPER 28.8 +48.7 48714 7.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 SIN3A ZNF2 ZNF207 FOS HK1 DDX21 ENSG00000231748 HKDC1 TYSND1 C10orf35 DDX50 RPS15AP28 TACR2
GH10G069325 1.6 Ensembl ENCODE dbSUPER 18.7 +63.4 63418 16.0 HDGF PKNOX1 ARNT WRNIP1 SIN3A ZNF2 FOS ZNF263 REST ZNF592 HK1 CCAR1 DDX50 ENSG00000231748 STOX1 RPS15AP28 TACR2
GH10G069538 0.4 FANTOM5 61.4 +268.7 268674 0.2 POLR2A HK1 NEUROG3 LOC101929021 C10orf35 LOC105378345 TMEM256P1
GH10G069343 1.2 Ensembl ENCODE dbSUPER 15.8 +77.2 77208 6.5 PKNOX1 JUN EBF1 ZIC2 ZNF766 GATA2 ZNF366 FOS CEBPB REST HK1 ENSG00000231748 RPL26P27 RPS15AP28 TACR2
GH10G069407 1.6 FANTOM5 ENCODE dbSUPER 11.8 +139.6 139562 3.8 PKNOX1 ARNT AGO1 ARID4B SIN3A ZNF2 ZNF766 ZNF143 KLF13 SP3 TACR2 HK1 HKDC1 ENSG00000231748 TSPAN15 SRGN VPS26A RPS15AP28
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HK1 Gene

Chromosome:
10
Start:
69,269,984 bp from pter
End:
69,401,882 bp from pter
Size:
131,899 bases
Orientation:
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:
    P19367-HXK1_HUMAN
    Recommended name:
    Hexokinase-1
    Protein Accession:
    P19367
    Secondary Accessions:
    • E9PCK0
    • O43443
    • O43444
    • O75574
    • Q5VTC3
    • Q96HC8
    • Q9NNZ4
    • Q9NNZ5

    Protein attributes for HK1 Gene

    Size:
    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).
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for HK1 Gene

Selected DME Specific Peptides for HK1 Gene

P19367:
  • DIRTEFD
  • MRLSDETL
  • EWGAFGD
  • TMMTCGY
  • YDTPENIVHGSG
  • GFTFSFP
  • CLGDFMEK
  • LLFEGRITPELLTRGKF
  • LYKTHPQY
  • RAAQLCGAG
  • IKDKKLP
  • KAIKKRGDYDANIVAVVNDTVGTM
  • LLRDAIKRR
  • CGAGMAA
  • GFTFSFPC
  • NACYMEE
  • DGSGKGAA
  • TPRLRTTV
  • VGLIIGTG
  • LDLGGTNFRV
  • AMVTAVA
  • LFRGQISE
  • GDDGSLEDIR
  • VNDTVGTMM
  • DCVSVQH
  • VGVDGTLYKLHP
  • VRSIPDG
  • TRGIFETKFLSQIESD
  • YLGEIVRNILIDFTK
  • GLIVGTG
  • SLNPGKQ
  • HKTLRRLVPD
  • IDLVEGDEGRMCINTEWGAFGDDG
  • GELVRLIL
  • VEMHNKIY
  • NMEWGAFGDNGC
  • MCINMEWGAFGD
  • KIDKYLYAMRLSDE
  • HGSGSQLFDHV
  • ALDLGGTN
  • VKMLPTFVR
  • SGMYLGEI

Post-translational modifications for HK1 Gene

  • Ubiquitination at isoforms=2, 3, 4191, posLast=333333, and posLast=418418
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HK1 (HK1)

Domains & Families for HK1 Gene

Protein Domains for HK1 Gene

Graphical View of Domain Structure for InterPro Entry

P19367

UniProtKB/Swiss-Prot:

HXK1_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with HK1: view

No data available for Gene Families for HK1 Gene

Function for HK1 Gene

Molecular function for HK1 Gene

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
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.

Enzyme Numbers (IUBMB) 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 3207429
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

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA 20833797
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol 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:0005975 carbohydrate metabolic process IEA --
GO:0006096 glycolytic process TAS 3207429
GO:0008152 metabolic process IEA --
GO:0015758 glucose transport TAS --
genes like me logo Genes that share ontologies with HK1: view

Drugs & Compounds for HK1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludeoxyglucose F-18 Approved Pharma Enzyme, substrate 0
D-glucose Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Glucosamine Approved Nutra 191
Beta-D-Glucose Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
D-Galactose
  • (+)-Galactose
  • 5abp
  • 8abp
  • alpha D-Galactose
  • alpha-D-Galactopyranose
59-23-4

(1) Tocris Compounds for HK1 Gene

Compound Action Cas Number
GKA 50 Glucokinase activator 851884-87-2

(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

Transcripts for HK1 Gene

Unigene Clusters for HK1 Gene

Hexokinase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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: -
SP6:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for HK1 Gene

GeneLoc Exon Structure for
HK1
ECgene alternative splicing isoforms for
HK1

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:

HK1

SOURCE GeneReport for Unigene cluster for HK1 Gene:

Hs.370365

mRNA Expression by UniProt/SwissProt for HK1 Gene:

P19367-HXK1_HUMAN
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(2.6)
  • Liver(2.4)
  • Intestine(2.2)
  • Blood(2.1)
  • Spleen(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
Limb:
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • 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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia HK1 34 35
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia HK1 34 35
  • 90.51 (n)
cow
(Bos Taurus)
Mammalia HK1 34 35
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Hk1 34 16 35
  • 86.8 (n)
rat
(Rattus norvegicus)
Mammalia Hk1 34
  • 86.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HK1 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HK1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves HK1 34 35
  • 79.28 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hk1 34
  • 74.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia hk1-A 34
zebrafish
(Danio rerio)
Actinopterygii hk1 34 35
  • 75.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hex-A 36 34 35
  • 55.28 (n)
Hex-t2 36 35
  • 44 (a)
Hex-C 36 35
  • 43 (a)
Hex-t1 36 35
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea F14B4.2 36 35
  • 46 (a)
H25P06.1 36
  • 39 (a)
Y77E11A.1 36
  • 34 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR279C 34
  • 51.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11352g 34
  • 47.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HXK2 34 35
  • 46.3 (n)
HXK1 35
  • 31 (a)
ManyToMany
GLK1 35
  • 30 (a)
ManyToMany
EMI2 35
  • 29 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HXK2 34
  • 46.51 (n)
rice
(Oryza sativa)
Liliopsida Os01g0742500 34
  • 49.73 (n)
corn
(Zea mays)
Liliopsida Zm.5206 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02542 34
  • 48.2 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hxk1 34
  • 47.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 35
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5346 34
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

ENSEMBL:
Gene Tree for HK1 (if available)
TreeFam:
Gene Tree for HK1 (if available)

Paralogs for HK1 Gene

Paralogs for HK1 Gene

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

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 Sequence Context AA Info Type
rs137853249 Pathogenic, Hexokinase deficiency (HK deficiency) [MIM:235700] 69,384,348(+) CTTCT(C/T)GGCCC reference, missense
rs398122379 Pathogenic, Hexokinase deficiency (HK deficiency) [MIM:235700] 69,392,128(+) AGGGA(C/G)CGGCA reference, missense
rs397514654 Pathogenic 69,278,711(+) ACATA(C/G)CTGGC intron-variant
rs797044964 Pathogenic 69,278,691(+) GACTG(C/G)AACCC intron-variant
rs1057517928 Likely pathogenic 69,382,591(+) GGTGA(C/T)GGCGG reference, missense

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

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

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)

Relevant External Links for HK1 Gene

Human Gene Mutation Database (HGMD)
HK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HK1

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to hexokinase deficiency
  • hemolytic anemia, nonspherocytic, due to hexokinase deficiency
neuropathy, hereditary motor and sensory, russe type
  • charcot-marie-tooth disease type 4g
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
chronic cholangitis
hemolytic anemia
  • anemia hemolytic
- elite association - COSMIC cancer census association via MalaCards
Search HK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HXK1_HUMAN
  • 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.

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

Relevant External Links for HK1

Genetic Association Database (GAD)
HK1
Human Genome Epidemiology (HuGE) Navigator
HK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HK1
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. (Eur. J. Hum. Genet. 2009) 3 4 22 64
  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 46 64
  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) ParAc G. … Ridker P.M. (PLoS Genet. 2008) 3 22 46 64
  4. Crystal structures of mutant monomeric hexokinase I reveal multiple ADP binding sites and conformational changes relevant to allosteric regulation. (PMID: 10686099) Aleshin A.E. … Honzatko R.B. (J. Mol. Biol. 2000) 3 4 22 64
  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. (Biochim. Biophys. Acta 2000) 3 4 22 64

Products for HK1 Gene

Sources for HK1 Gene

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