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    Hk1 hexokinase 1 [ Mus musculus (house mouse) ]

    Gene ID: 15275, updated on 11-Apr-2024

    Summary

    Official Symbol
    Hk1provided by MGI
    Official Full Name
    hexokinase 1provided by MGI
    Primary source
    MGI:MGI:96103
    See related
    Ensembl:ENSMUSG00000037012 AllianceGenome:MGI:96103
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    dea; Hk-1; Hk1-s; mHk1-s
    Summary
    Enables glucokinase activity and peptidoglycan binding activity. Involved in carbohydrate phosphorylation; positive regulation of cytokine production involved in immune response; and positive regulation of interleukin-1 beta production. Located in several cellular components, including membrane raft; mitochondrion; and sperm principal piece. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4G; anemia (multiple); hematologic cancer (multiple); obesity; and retinitis pigmentosa. Orthologous to human HK1 (hexokinase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 245.2), cortex adult (RPKM 43.6) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10 B4; 10 32.37 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (62104634..62215699, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (62268855..62379920, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene tetraspanin 15 Neighboring gene microRNA 7662 Neighboring gene STARR-seq mESC enhancer starr_26875 Neighboring gene tachykinin receptor 2 Neighboring gene STARR-seq mESC enhancer starr_26881 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:61802071-61802272 Neighboring gene STARR-positive B cell enhancer ABC_E9791 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:61803279-61803470 Neighboring gene hexokinase 1, opposite strand Neighboring gene hexokinase domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_26882 Neighboring gene predicted gene, 30322 Neighboring gene RIKEN cDNA 4930507D05 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:61912425-61912612 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:61912686-61912869 Neighboring gene suppressor of var1, 3-like 1 (S. cerevisiae)

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables fructokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fructokinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables glucokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glucokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucokinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables glucose binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hexokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hexokinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables hexokinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables hexokinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables mannokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mannokinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidoglycan binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphotransferase activity, alcohol group as acceptor IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in canonical glycolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    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 carbohydrate phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of protein localization to mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fructose 6-phosphate metabolic process ISO
    Inferred from Sequence Orthology
    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 ISO
    Inferred from Sequence Orthology
    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 glycolytic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within glycolytic process TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within 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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mannose metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cytokine production involved in immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to ischemia ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in caveola ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    hexokinase-1
    Names
    HK I
    downeast anemia
    hexokinase type I
    hexokinase, tumor isozyme
    NP_001139572.1
    NP_034568.2
    XP_006513305.1
    XP_006513306.1
    XP_006513307.1
    XP_006513308.1
    XP_006513309.1
    XP_006513310.1
    XP_030100764.1

    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.

    mRNA and Protein(s)

    1. NM_001146100.2NP_001139572.1  hexokinase-1 isoform HK1

      See identical proteins and their annotated locations for NP_001139572.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the ubiquitously expressed transcript and encodes isoform HK1. Its 5' end includes an exon that is unique to this transcript and encodes a distinct N-terminus containing the porin binding domain (PBD). The porin binding domain mediates association with the mitochondrial membrane.
      Source sequence(s)
      AC145297
      Consensus CDS
      CCDS48577.1
      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4, Q6GQU1
      Related
      ENSMUSP00000097282.5, ENSMUST00000099691.11
      Conserved Domains (3) summary
      PTZ00107
      Location:462907
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:469667
      Hexokinase_1; Hexokinase
      pfam03727
      Location:673907
      Hexokinase_2; Hexokinase
    2. NM_001428524.1NP_001415453.1  hexokinase-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC145297
    3. NM_001428525.1NP_001415454.1  hexokinase-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC145297
    4. NM_001428526.1NP_001415455.1  hexokinase-1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC145297
      UniProtKB/TrEMBL
      G3UVV4
    5. NM_001428527.1NP_001415456.1  hexokinase-1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC145297
    6. NM_001428528.1NP_001415457.1  hexokinase-1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC145297
    7. NM_001428529.1NP_001415458.1  hexokinase-1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC145297
    8. NM_010438.4NP_034568.2  hexokinase-1 isoform HK1-sb

      See identical proteins and their annotated locations for NP_034568.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has four novel exons in the 5' end and one novel in-frame exon in the 3' coding region , compared to variant 1. These differences result in a protein (isoform HK1-sb) with a longer and distinct N-terminus and a longer C-terminus, compared to isoform HK1. This transcript is expressed exclusively in the testis and its protein lacks the porin binding domain that mediates association with the mitochondrial membrane in isoform HK1.
      Source sequence(s)
      AC126428, AC145297
      Consensus CDS
      CCDS48578.1
      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4
      Related
      ENSMUSP00000111946.3, ENSMUST00000116238.9
      Conserved Domains (3) summary
      PTZ00107
      Location:489934
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:496694
      Hexokinase_1; Hexokinase
      pfam03727
      Location:700934
      Hexokinase_2; Hexokinase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      62104634..62215699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513245.4XP_006513308.1  hexokinase-1 isoform X2

      See identical proteins and their annotated locations for XP_006513308.1

      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4
      Conserved Domains (3) summary
      PTZ00107
      Location:23464
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:473671
      Hexokinase_1
      pfam03727
      Location:677911
      Hexokinase_2
    2. XM_006513244.4XP_006513307.1  hexokinase-1 isoform X2

      See identical proteins and their annotated locations for XP_006513307.1

      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4
      Conserved Domains (3) summary
      PTZ00107
      Location:23464
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:473671
      Hexokinase_1
      pfam03727
      Location:677911
      Hexokinase_2
    3. XM_006513243.4XP_006513306.1  hexokinase-1 isoform X2

      See identical proteins and their annotated locations for XP_006513306.1

      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4
      Conserved Domains (3) summary
      PTZ00107
      Location:23464
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:473671
      Hexokinase_1
      pfam03727
      Location:677911
      Hexokinase_2
    4. XM_006513242.2XP_006513305.1  hexokinase-1 isoform X1

      See identical proteins and their annotated locations for XP_006513305.1

      UniProtKB/Swiss-Prot
      E9PXQ3, P17710, Q61659, Q64476, Q64479
      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4
      Conserved Domains (3) summary
      PTZ00107
      Location:75516
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:525723
      Hexokinase_1
      pfam03727
      Location:729963
      Hexokinase_2
    5. XM_030244904.1XP_030100764.1  hexokinase-1 isoform X5

      UniProtKB/TrEMBL
      Q3TJE3, Q3UPC4
      Conserved Domains (3) summary
      PTZ00107
      Location:75539
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:548746
      Hexokinase_1
      pfam03727
      Location:752986
      Hexokinase_2
    6. XM_006513246.4XP_006513309.1  hexokinase-1 isoform X3

      Related
      ENSMUSP00000118601.2, ENSMUST00000130422.8
      Conserved Domains (3) summary
      PTZ00107
      Location:18459
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:468666
      Hexokinase_1
      pfam03727
      Location:672906
      Hexokinase_2
    7. XM_006513247.2XP_006513310.1  hexokinase-1 isoform X4

      Conserved Domains (3) summary
      PTZ00107
      Location:8446
      PTZ00107; hexokinase; Provisional
      pfam00349
      Location:455653
      Hexokinase_1
      pfam03727
      Location:659893
      Hexokinase_2