Human Gene HK1 (ENST00000643399.2_7) from GENCODE V47lift37
  Description: hexokinase 1, transcript variant 10 (from RefSeq NM_001358263.1)
Gencode Transcript: ENST00000643399.2_7
Gencode Gene: ENSG00000156515.25_20
Transcript (Including UTRs)
   Position: hg19 chr10:71,038,252-71,161,638 Size: 123,387 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr10:71,048,500-71,160,891 Size: 112,392 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:71,038,252-71,161,638)mRNA (may differ from genome)Protein (921 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HXK1_HUMAN
DESCRIPTION: RecName: Full=Hexokinase-1; EC=2.7.1.1; AltName: Full=Brain form hexokinase; AltName: Full=Hexokinase type I; Short=HK I;
CATALYTIC ACTIVITY: ATP + D-hexose = ADP + D-hexose 6-phosphate.
ENZYME REGULATION: Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.
PATHWAY: Carbohydrate metabolism; hexose metabolism.
SUBUNIT: Monomer.
INTERACTION: P21796:VDAC1; NbExp=2; IntAct=EBI-713162, EBI-354158;
SUBCELLULAR LOCATION: Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.
TISSUE SPECIFICITY: Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.
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.
DISEASE: Defects in HK1 are the cause of hexokinase deficiency (HK deficiency) [MIM:235700]. HK deficiency is a rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.
MISCELLANEOUS: In vertebrates there are four major glucose- phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).
SIMILARITY: Belongs to the hexokinase family.
WEB RESOURCE: Name=Wikipedia; Note=Hexokinase entry; URL="http://en.wikipedia.org/wiki/Hexokinase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HK1
Diseases sorted by gene-association score: hemolytic anemia due to hexokinase deficiency* (1670), neuropathy, hereditary motor and sensory, russe type* (1376), retinitis pigmentosa 79* (929), neuropathy, congenital hypomyelinating* (29), hemolytic anemia (10), poland syndrome (6), chronic cholangitis (6), retinitis pigmentosa (3), attention deficit-hyperactivity disorder (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -156.40485-0.322 Picture PostScript Text
3' UTR -247.40747-0.331 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001312 - Hexokinase
IPR022673 - Hexokinase_C
IPR019807 - Hexokinase_CS
IPR022672 - Hexokinase_N

Pfam Domains:
PF00349 - Hexokinase
PF03727 - Hexokinase

SCOP Domains:
63817 - Sortase
53067 - Actin-like ATPase domain
53448 - Nucleotide-diphospho-sugar transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1CZA - X-ray MuPIT 1DGK - X-ray MuPIT 1HKB - X-ray MuPIT 1HKC - X-ray MuPIT 1QHA - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P19367
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004340 glucokinase activity
GO:0004396 hexokinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005536 glucose binding
GO:0008865 fructokinase activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0019158 mannokinase activity
GO:0042802 identical protein binding
GO:0042834 peptidoglycan binding

Biological Process:
GO:0001678 cellular glucose homeostasis
GO:0005975 carbohydrate metabolic process
GO:0006096 glycolytic process
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0019318 hexose metabolic process
GO:0046835 carbohydrate phosphorylation
GO:0051156 glucose 6-phosphate metabolic process
GO:0061621 canonical glycolysis
GO:0072655 establishment of protein localization to mitochondrion
GO:0072656 maintenance of protein location in mitochondrion

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  U38226 - Human testis-specific hexokinase 1 (hHK1-ta) mRNA, partial cds.
U38227 - Human testis-specific hexokinase 1 (hHK1-tb) mRNA, partial cds.
U38228 - Human testis-specific hexokinase 1 (hHK1-tc) mRNA, partial cds.
AK128226 - Homo sapiens cDNA FLJ46359 fis, clone TESTI4049786, highly similar to Hexokinase-1 (EC 2.7.1.1).
AF073786 - Homo sapiens testis-specific hexokinase 1 mRNA, partial cds.
JD202583 - Sequence 183607 from Patent EP1572962.
JD066447 - Sequence 47471 from Patent EP1572962.
JD292282 - Sequence 273306 from Patent EP1572962.
KJ896973 - Synthetic construct Homo sapiens clone ccsbBroadEn_06367 HK1 gene, encodes complete protein.
KJ905209 - Synthetic construct Homo sapiens clone ccsbBroadEn_14665 HK1 gene, encodes complete protein.
KR709982 - Synthetic construct Homo sapiens clone CCSBHm_00008709 HK1 (HK1) mRNA, encodes complete protein.
KR709983 - Synthetic construct Homo sapiens clone CCSBHm_00008710 HK1 (HK1) mRNA, encodes complete protein.
AK292012 - Homo sapiens cDNA FLJ78173 complete cds, highly similar to Homo sapiens hexokinase 1 (HK1) mRNA.
AK294428 - Homo sapiens cDNA FLJ56506 complete cds, highly similar to Hexokinase-1 (EC 2.7.1.1).
AB209526 - Homo sapiens mRNA for hexokinase 1 isoform HKI variant protein.
M75126 - Homo sapiens hexokinase 1 (HK1) mRNA, complete cds.
AK309904 - Homo sapiens cDNA, FLJ99945.
BC008730 - Homo sapiens hexokinase 1, mRNA (cDNA clone MGC:1724 IMAGE:3163058), complete cds.
DQ896762 - Synthetic construct Homo sapiens clone IMAGE:100011222; FLH195902.01L; RZPDo839H07151D hexokinase 1 (HK1) gene, encodes complete protein.
DQ893281 - Synthetic construct clone IMAGE:100005911; FLH195906.01X; RZPDo839H07152D hexokinase 1 (HK1) gene, encodes complete protein.
CU679065 - Synthetic construct Homo sapiens gateway clone IMAGE:100017842 5' read HK1 mRNA.
AB384968 - Synthetic construct DNA, clone: pF1KB4596, Homo sapiens HK1 gene for hexokinase-1, complete cds, without stop codon, in Flexi system.
AK091267 - Homo sapiens cDNA FLJ33948 fis, clone CTONG2018379, highly similar to Hexokinase-1 (EC 2.7.1.1).
X66957 - H. sapiens hexokinase I (MK-16).
JD068440 - Sequence 49464 from Patent EP1572962.
JD337262 - Sequence 318286 from Patent EP1572962.
JD206854 - Sequence 187878 from Patent EP1572962.
JD132619 - Sequence 113643 from Patent EP1572962.
JD164762 - Sequence 145786 from Patent EP1572962.
JD524453 - Sequence 505477 from Patent EP1572962.
JD226422 - Sequence 207446 from Patent EP1572962.
JD232844 - Sequence 213868 from Patent EP1572962.
JD530653 - Sequence 511677 from Patent EP1572962.
JD425703 - Sequence 406727 from Patent EP1572962.
JD460008 - Sequence 441032 from Patent EP1572962.
JD132117 - Sequence 113141 from Patent EP1572962.
JD103069 - Sequence 84093 from Patent EP1572962.
JD188214 - Sequence 169238 from Patent EP1572962.
JD356992 - Sequence 338016 from Patent EP1572962.
JD551990 - Sequence 533014 from Patent EP1572962.
JD283678 - Sequence 264702 from Patent EP1572962.
JD306218 - Sequence 287242 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5514 - UDP-N-acetyl-D-galactosamine biosynthesis II
PWY-5661-1 - GDP-glucose biosynthesis II
PWY-5941 - glycogenolysis
PWY0-1182 - trehalose degradation
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
UDPNACETYLGALSYN-PWY - UDP-N-acetyl-D-glucosamine biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein P19367 (Reactome details) participates in the following event(s):

R-HSA-70420 HK1,2,3,GCK phosphorylate Glc to form G6P
R-HSA-70171 Glycolysis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: E9PCK0, ENST00000643399.1, HK1 , HXK1_HUMAN, NM_001358263, O43443, O43444, O75574, P19367, Q5VTC3, Q96HC8, Q9NNZ4, Q9NNZ5, uc328jpz.1
UCSC ID: ENST00000643399.2_7
RefSeq Accession: NM_001358263.1
Protein: P19367 (aka HXK1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HK1:
hi (Nonsyndromic Genetic Hyperinsulinism Overview)
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.