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Aliases for HK1 Gene

Aliases for HK1 Gene

  • Hexokinase 1 2 3
  • Brain Form Hexokinase 3 4
  • Hexokinase Type I 3 4
  • EC 2.7.1.1 4 63
  • HMSNR 3 6
  • HK I 3 4
  • HKD 3 6
  • Glycolytic Enzyme 3
  • Hexokinase-1 3
  • EC 2.7.1 63
  • HK1-Ta 3
  • HK1-Tb 3
  • HK1-Tc 3
  • HXK1 3
  • HKI 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 five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]

GeneCards Summary for HK1 Gene

HK1 (Hexokinase 1) is a Protein Coding gene. Diseases associated with HK1 include neuropathy, hereditary motor and sensory, russe type and hemolytic anemia due to hexokinase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include glucokinase activity and mannokinase activity. An important paralog of this gene is HK2.

Tocris Summary for HK1 Gene

  • Mitochondrial Hexokinases catalyze the first essential step of glucose metabolism, the conversion of glucose into glucose-6-phosphate. This directly couples extramitochondrial glycolysis to intramitochondrial oxidative phosphorylation. There are two subtypes of mitochondrial hexokinases, HK1 and HK2, each of which has four isozymes designated hexokinase I, II, III and IV. HK1 and HK2 are both localized to the outer mitochondrial membrane, with HK1 being found in nervous tissue and HK2 in insulin-responsive tissues such as skeletal muscle. Activation of mitochondrial hexokinases is regulated by Akt/PKB-mediated phosphorylation and they are subject to inhibiton by their end product, glucose-6-phosphate. In addition to glucose metabolism, mitochondrial hexokinases have been implicated in antiapoptotic and cell survival signaling.

Gene Wiki entry for HK1 Gene

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

Genomics for HK1 Gene

Regulatory Elements for HK1 Gene

Genomic Location for HK1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HK1 Gene at MOPED

Post-translational modifications for HK1 Gene

  • Ubiquitination at Lys187, Lys191, Lys333, and Lys418
  • Modification sites at PhosphoSitePlus

Other Protein References for HK1 Gene

Domains for HK1 Gene

Protein Domains for HK1 Gene

Suggested Antigen Peptide Sequences for HK1 Gene

Graphical View of Domain Structure for InterPro Entry

P19367

UniProtKB/Swiss-Prot:

HXK1_HUMAN :
  • P19367
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
  • Contains 2 hexokinase domains.
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:0004340 glucokinase activity IBA --
GO:0004396 hexokinase activity TAS 3207429
GO:0005515 protein binding IPI 22304920
GO:0005524 ATP binding IEA --
GO:0008865 fructokinase activity IBA --
genes like me logo Genes that share ontologies with HK1: view
genes like me logo Genes that share phenotypes with HK1: view

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for HK1 Gene COMPARTMENTS Subcellular localization image for HK1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 4
chloroplast 2
endoplasmic reticulum 2
extracellular 2
plasma membrane 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol TAS --
GO:0005929 cilium --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with HK1: view

Pathways 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

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 TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006096 glycolytic process IBA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with HK1: view

Compounds for HK1 Gene

(1) Tocris Compounds for HK1 Gene

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

(8) HMDB Compounds for HK1 Gene

Compound Synonyms Cas Number PubMed IDs
Alpha-D-Glucose
  • Hexopyranose
492-62-6
Beta-D-Glucose
  • b-D-Glucopyranose
492-61-5
D-Fructose
  • Beta-d-arabino-hexulose
53188-23-1
D-Glucose
  • (+)-Glucose
50-99-7
D-Mannose
  • DL-mannose
3458-28-4

(4) Drugbank Compounds for HK1 Gene

(22) Novoseek inferred chemical compound relationships for HK1 Gene

Compound -log(P) Hits PubMed IDs
glucose 6-phosphate 82.7 36
glucose 68.5 50
glycogen 52.8 8
atp 51.7 13
18f fluorodeoxyglucose 48.1 6
genes like me logo Genes that share compounds with HK1: view

Transcripts for HK1 Gene

Unigene Clusters for HK1 Gene

Hexokinase 1:
Representative Sequences:

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 for HK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for HK1 Gene

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

No data available for 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 35
  • 98.9 (n)
  • 98.57 (a)
HK1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HK1 35
  • 89.46 (n)
  • 95.2 (a)
HK1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HK1 35
  • 90.51 (n)
  • 95.64 (a)
HK1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hk1 35
  • 86.8 (n)
  • 92.8 (a)
Hk1 16
Hk1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HK1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HK1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hk1 35
  • 86.72 (n)
  • 92.79 (a)
chicken
(Gallus gallus)
Aves HK1 35
  • 79.28 (n)
  • 88.05 (a)
HK1 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hk1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hk1 35
  • 74.88 (n)
  • 86.09 (a)
zebrafish
(Danio rerio)
Actinopterygii hk1 35
  • 75.13 (n)
  • 85.56 (a)
hk1 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hex-A 35
  • 55.28 (n)
  • 48.97 (a)
Hex-A 36
  • 38 (a)
ManyToMany
Hex-C 36
  • 40 (a)
ManyToMany
Hex-t1 36
  • 28 (a)
ManyToMany
Hex-t2 36
  • 37 (a)
ManyToMany
Hex-t2 37
  • 44 (a)
Hex-t1 37
  • 31 (a)
Hex-A 37
  • 46 (a)
Hex-C 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea F14B4.2 36
  • 43 (a)
OneToMany
Y77E11A.1 37
  • 34 (a)
H25P06.1 37
  • 39 (a)
F14B4.2 37
  • 46 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR279C 35
  • 51.19 (n)
  • 36.55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMI2 36
  • 29 (a)
ManyToMany
GLK1 36
  • 30 (a)
ManyToMany
HXK1 36
  • 31 (a)
ManyToMany
HXK2 35
  • 46.3 (n)
  • 38.24 (a)
HXK2 36
  • 29 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11352g 35
  • 47.01 (n)
  • 37.22 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons HXK2 35
  • 46.51 (n)
  • 40.48 (a)
corn
(Zea mays)
Liliopsida Zm.5206 35
rice
(Oryza sativa)
Liliopsida Os01g0742500 35
  • 49.73 (n)
  • 41.23 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02542 35
  • 48.2 (n)
  • 37.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hxk1 35
  • 47.46 (n)
  • 37.94 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5346 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 36
  • 47 (a)
OneToMany
Species with no ortholog for HK1:
  • 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

Selected 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 MAF
rs12216 -- 69,401,525(+) CTCCC(C/T)GTGTG utr-variant-3-prime
rs12751 -- 69,401,215(+) GTTGC(G/T)CTGGG utr-variant-3-prime
rs13139 -- 69,401,141(+) GAGTC(C/T)GGGAT utr-variant-3-prime
rs14006 -- 69,401,072(+) GGCAG(C/T)GGCAA reference, synonymous-codon
rs14382 -- 69,401,464(+) TGGAA(A/T)ATCAC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv508589 CNV Loss 20534489
nsv895695 CNV Gain 21882294
dgv297e1 CNV Complex 17122850
nsv524428 CNV Loss 19592680
esv2669212 CNV Deletion 23128226
esv2738106 CNV Deletion 23290073
nsv895696 CNV Gain 21882294

Relevant External Links for HK1 Gene

HapMap Linkage Disequilibrium report
HK1
Human Gene Mutation Database (HGMD)
HK1

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

Disorders for HK1 Gene

(2) OMIM Diseases for HK1 Gene (142600)

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.
  • Hereditary motor and sensory neuropathy, 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.

(3) University of Copenhagen DISEASES for HK1 Gene

(7) Novoseek inferred disease relationships for HK1 Gene

Disease -log(P) Hits PubMed IDs
glioma 19.6 5
primary tumor 17.6 5
tumors 12.1 8
cancer 8.36 1
metastasis 3.51 3

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

Publications for HK1 Gene

  1. Human hexokinase type I microheterogeneity is due to different amino- terminal sequences. (PMID: 1985912) Magnani M. … Stocchi V. (J. Biol. Chem. 1991) 3 4 23
  2. Identification of the cDNA for human red blood cell-specific hexokinase isozyme. (PMID: 9028305) Murakami K. … Piomelli S. (Blood 1997) 3 4 23
  3. Crystallization and preliminary X-ray analysis of human brain hexokinase. (PMID: 8706938) Aleshin A.E. … Honatko R.B. (FEBS Lett. 1996) 3 4 23
  4. The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate. (PMID: 9493266) Aleshin A.E. … Honzatko R.B. (Structure 1998) 3 4 23
  5. Regulation of hexokinase I: crystal structure of recombinant human brain hexokinase complexed with glucose and phosphate. (PMID: 9735292) Aleshin A.E. … Honzatko R.B. (J. Mol. Biol. 1998) 3 4 23

Products for HK1 Gene

  • Addgene plasmids for HK1

Sources for HK1 Gene

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