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    HK1 hexokinase 1 [ Homo sapiens (human) ]

    Gene ID: 3098, updated on 7-Apr-2024

    Summary

    Official Symbol
    HK1provided by HGNC
    Official Full Name
    hexokinase 1provided by HGNC
    Primary source
    HGNC:HGNC:4922
    See related
    Ensembl:ENSG00000156515 MIM:142600; AllianceGenome:HGNC:4922
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HK; HKD; HKI; HXK1; NMSR; RP79; HMSNR; HK1-ta; HK1-tb; HK1-tc; NEDVIBA; hexokinase
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 41.2), esophagus (RPKM 41.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10q22.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (69270000..69401882)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (70138041..70269925)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (71029756..71161638)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3486 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:70949649-70949852 Neighboring gene Suv3 like RNA helicase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2429 Neighboring gene uncharacterized LOC101928994 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16991 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16994 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:70991590-70992789 Neighboring gene hexokinase domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71007828-71008366 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:71016306-71016498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71050933-71051433 Neighboring gene ribosomal protein S15a pseudogene 28 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71072583-71073084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71080772-71081688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71085561-71086169 Neighboring gene Sharpr-MPRA regulatory regions 12566 and 14132 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:71088623-71089424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71089425-71090226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71094713-71095639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71096837-71097524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71097525-71098210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71098899-71099584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71103173-71104026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2431 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71126259-71126762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71125753-71126258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71136088-71136610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71136611-71137131 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:71149651-71150373 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71150445-71151156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71176444-71177178 Neighboring gene Sharpr-MPRA regulatory region 2430 Neighboring gene tachykinin receptor 2 Neighboring gene ATP synthase membrane subunit c locus 1 pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease type 4G
    MedGen: C1854449 OMIM: 605285 GeneReviews: Not available
    Compare labs
    Hemolytic anemia due to hexokinase deficiency
    MedGen: C3150343 OMIM: 235700 GeneReviews: Not available
    Compare labs
    Neurodevelopmental disorder with visual defects and brain anomalies
    MedGen: C5231404 OMIM: 618547 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 79
    MedGen: C4479526 OMIM: 617460 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    EBI GWAS Catalog
    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.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 modulates subcellular localization of HK1 favoring increased association of HK1 with mitochondria, and HIV-1 protein Vpr induces accumulation of HK1 from the cytoplasm to the mitochondria PubMed
    vpr The expression of hexokinase 1 (HK1) is upregulated in HIV-1 infected PBMCs and monocyte-like cell line U1, and HIV-1 Vpr transduced U937 cell derived macrophages PubMed
    vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of hexokinase 1 (HK1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables fructokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fructokinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables glucokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glucokinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables glucokinase activity TAS
    Traceable Author Statement
    more info
     
    enables glucosamine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables glucose binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hexokinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables mannokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mannokinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables peptidoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in canonical glycolysis TAS
    Traceable Author Statement
    more info
     
    involved_in carbohydrate phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in carbohydrate phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of protein localization to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fructose 6-phosphate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose 6-phosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glucose 6-phosphate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycolytic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular glucose homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in maintenance of protein location in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mannose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cytokine production involved in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of interleukin-1 beta production IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    hexokinase-1
    Names
    Neuropathy, hereditary motor and sensory, Russe type
    brain form hexokinase
    glycolytic enzyme
    hexokinase IR
    hexokinase type I
    hexokinase-A
    NP_000179.2
    NP_001309293.1
    NP_001309294.1
    NP_001309295.1
    NP_001309296.1
    NP_001345192.1
    NP_277031.1
    NP_277032.1
    NP_277033.1
    NP_277035.2
    XP_024303737.1
    XP_047281092.1
    XP_047281093.1
    XP_047281095.1
    XP_054221661.1
    XP_054221662.1
    XP_054221663.1
    XP_054221664.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012077.1 RefSeqGene

      Range
      5001..136883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_365

    mRNA and Protein(s)

    1. NM_000188.3NP_000179.2  hexokinase-1 isoform HKI

      See identical proteins and their annotated locations for NP_000179.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), HKI, encodes the ubiquitously expressed isoform. Its 5' end includes an exon which is unique to this transcript and which encodes a distinct N-terminus that contains the porin binding domain (PBD). The porin binding domain mediates association with the mitochondrial membrane.
      Source sequence(s)
      AB209526, AK128226, AK292012, BC008730
      Consensus CDS
      CCDS7292.1
      UniProtKB/Swiss-Prot
      E9PCK0, O43443, O43444, O75574, P19367, Q5VTC3, Q96HC8, Q9NNZ4, Q9NNZ5
      UniProtKB/TrEMBL
      A8K7J7
      Related
      ENSP00000352398.6, ENST00000359426.7
      Conserved Domains (3) summary
      PTZ00107
      Location:12460
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:469667
      Hexokinase_1
      pfam03727
      Location:673907
      Hexokinase_2
    2. NM_001322364.2NP_001309293.1  hexokinase-1 isoform HKI-ta/tb

      Status: REVIEWED

      Description
      Transcript Variant: Variants 3, 4, 6 and 10 all encode isoform HKI-ta/tb, which has a unique N-terminus. Isoform HKI-ta/tb lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.
      Source sequence(s)
      AC016821, AL596223
      Consensus CDS
      CCDS7289.1
      UniProtKB/TrEMBL
      B3KXY9
      Conserved Domains (3) summary
      pfam00349
      Location:473671
      Hexokinase_1; Hexokinase
      pfam03727
      Location:677911
      Hexokinase_2; Hexokinase
      cl27242
      Location:16464
      Hexokinase_2; Hexokinase
    3. NM_001322365.2NP_001309294.1  hexokinase-1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC016821, AL596223
      UniProtKB/TrEMBL
      B3KXY9
      Conserved Domains (3) summary
      PTZ00107
      Location:47495
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:504702
      Hexokinase_1; Hexokinase
      pfam03727
      Location:708942
      Hexokinase_2; Hexokinase
    4. NM_001322366.1NP_001309295.1  hexokinase-1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC016821, AL596223
      Consensus CDS
      CCDS91250.1
      UniProtKB/TrEMBL
      A0A994J753, A8K7J7
      Related
      ENSP00000515578.1, ENST00000703945.1
      Conserved Domains (3) summary
      PTZ00107
      Location:1432
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:441639
      Hexokinase_1; Hexokinase
      pfam03727
      Location:645879
      Hexokinase_2; Hexokinase
    5. NM_001322367.1NP_001309296.1  hexokinase-1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC016821, AL596223
      UniProtKB/TrEMBL
      A8K7J7
      Conserved Domains (3) summary
      PTZ00107
      Location:430875
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:437635
      Hexokinase_1; Hexokinase
      pfam03727
      Location:641875
      Hexokinase_2; Hexokinase
    6. NM_001358263.1NP_001345192.1  hexokinase-1 isoform HKI-ta/tb

      Status: REVIEWED

      Description
      Transcript Variant: Variants 3, 4, 6 and 10 all encode isoform HKI-ta/tb, which has a unique N-terminus. Isoform HKI-ta/tb lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.
      Source sequence(s)
      AC016821, AL596223, BM686492
      Consensus CDS
      CCDS7289.1
      UniProtKB/TrEMBL
      B3KXY9
      Related
      ENSP00000494664.1, ENST00000643399.2
      Conserved Domains (3) summary
      pfam00349
      Location:473671
      Hexokinase_1; Hexokinase
      pfam03727
      Location:677911
      Hexokinase_2; Hexokinase
      cl27242
      Location:16464
      Hexokinase_2; Hexokinase
    7. NM_033496.3NP_277031.1  hexokinase-1 isoform HKI-R

      See identical proteins and their annotated locations for NP_277031.1

      Status: REVIEWED

      Description
      Transcript Variant: Variant 2 (HKI-R) encodes the erythroid-specific isoform. Isoform HKI-R lacks the porin binding domain (PBD), which mediates association with the mitochondrial membrane, and thus localizes to the cytoplasm. Variant 2 includes an erythroid-specific exon in the 5' end which encodes a distinct N-terminus.
      Source sequence(s)
      AK128226, AL596223, BC008730, BX406321
      Consensus CDS
      CCDS7291.1
      UniProtKB/TrEMBL
      A8K7J7
      Related
      ENSP00000298649.3, ENST00000298649.8
      Conserved Domains (3) summary
      PTZ00107
      Location:21459
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:468666
      Hexokinase_1; Hexokinase
      pfam03727
      Location:672906
      Hexokinase_2; Hexokinase
    8. NM_033497.3NP_277032.1  hexokinase-1 isoform HKI-ta/tb

      See identical proteins and their annotated locations for NP_277032.1

      Status: REVIEWED

      Description
      Transcript Variant: Variant 3 (HKI-ta) includes four testis-specific exons in the 5' end. Variants 3, 4, 6 and 10 all encode isoform HKI-ta/tb, which has a unique N-terminus. Isoform HKI-ta/tb lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.
      Source sequence(s)
      AF073786, AK128226, BC008730, DB088955
      Consensus CDS
      CCDS7289.1
      UniProtKB/TrEMBL
      B3KXY9
      Related
      ENSP00000415949.2, ENST00000436817.6
      Conserved Domains (3) summary
      pfam00349
      Location:473671
      Hexokinase_1; Hexokinase
      pfam03727
      Location:677911
      Hexokinase_2; Hexokinase
      cl27242
      Location:16464
      Hexokinase_2; Hexokinase
    9. NM_033498.3NP_277033.1  hexokinase-1 isoform HKI-ta/tb

      See identical proteins and their annotated locations for NP_277033.1

      Status: REVIEWED

      Description
      Transcript Variant: Variant 4 (HKI-tb) has four testis-specific exons in the 5' end, one of which includes an additional 54 nt fragment unique to variants 4 and 5. Variants 3, 4, 6 and 10 all encode isoform HKI-ta/tb, which has a unique N-terminus. Isoform HKI-ta/tb lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.
      Source sequence(s)
      AF073786, AK128226, BC008730, U38226
      Consensus CDS
      CCDS7289.1
      UniProtKB/TrEMBL
      B3KXY9
      Conserved Domains (3) summary
      pfam00349
      Location:473671
      Hexokinase_1; Hexokinase
      pfam03727
      Location:677911
      Hexokinase_2; Hexokinase
      cl27242
      Location:16464
      Hexokinase_2; Hexokinase
    10. NM_033500.2NP_277035.2  hexokinase-1 isoform HKI-td

      See identical proteins and their annotated locations for NP_277035.2

      Status: REVIEWED

      Description
      Transcript Variant: Variant 5 (HKI-td) has five testis-specific exons in the 5' end, one of which includes an additional 54 nt fragment unique to variants 4 and 5. Isoform HKI-td has a unique N-terminus and lacks the porin binding domain (PBD) required for association with the mitochondrial membrane.
      Source sequence(s)
      AF073786, AK128226, BC008730, U38227
      UniProtKB/TrEMBL
      A8K7J7
      Conserved Domains (3) summary
      PTZ00107
      Location:10448
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:457655
      Hexokinase_1; Hexokinase
      pfam03727
      Location:661895
      Hexokinase_2; Hexokinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      69270000..69401882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425137.1XP_047281093.1  hexokinase-1 isoform X1

    2. XM_047425136.1XP_047281092.1  hexokinase-1 isoform X1

    3. XM_024447969.2XP_024303737.1  hexokinase-1 isoform X1

      UniProtKB/TrEMBL
      B3KXY9
      Conserved Domains (3) summary
      pfam00349
      Location:473671
      Hexokinase_1; Hexokinase
      pfam03727
      Location:677911
      Hexokinase_2; Hexokinase
      cl27242
      Location:16464
      Hexokinase_2; Hexokinase
    4. XM_047425139.1XP_047281095.1  hexokinase-1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      70138041..70269925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365688.1XP_054221663.1  hexokinase-1 isoform X1

    2. XM_054365687.1XP_054221662.1  hexokinase-1 isoform X1

    3. XM_054365686.1XP_054221661.1  hexokinase-1 isoform X1

    4. XM_054365689.1XP_054221664.1  hexokinase-1 isoform X2