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HK1 hexokinase 1 [ Homo sapiens (human) ]

Gene ID: 3098, updated on 9-Jul-2017
Official Symbol
HK1provided by HGNC
Official Full Name
hexokinase 1provided by HGNC
Primary source
HGNC:HGNC:4922
See related
Ensembl:ENSG00000156515 MIM:142600; Vega:OTTHUMG00000018380
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; RP79; HMSNR; HK1-ta; HK1-tb; HK1-tc; 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]
Orthologs
Location:
10q22.1
Exon count:
28
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (69270000..69401882)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (71029740..71161638)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Suv3 like RNA helicase Neighboring gene uncharacterized LOC101928994 Neighboring gene hexokinase domain containing 1 Neighboring gene ribosomal protein S15a pseudogene 28 Neighboring gene tachykinin receptor 2 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 7

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hemolytic anemia due to hexokinase deficiency
MedGen: C0472792 OMIM: 235700 GeneReviews: Not available
Compare labs
Neuropathy, hereditary motor and sensory, russe type Compare labs
Retinitis pigmentosa 79
MedGen: CN242289 OMIM: 617460 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fructokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
glucokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
glucokinase activity TAS
Traceable Author Statement
more info
 
glucose binding IEA
Inferred from Electronic Annotation
more info
 
hexokinase activity TAS
Traceable Author Statement
more info
PubMed 
mannokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
canonical glycolysis TAS
Traceable Author Statement
more info
 
carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
cellular glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
establishment of protein localization to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose 6-phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
glycolytic process TAS
Traceable Author Statement
more info
PubMed 
maintenance of protein location in mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
sperm principal piece IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
hexokinase-1
Names
HK I
brain form hexokinase
glycolytic enzyme
hexokinase I
hexokinase IR
hexokinase type I
NP_000179.2
NP_001309293.1
NP_001309294.1
NP_001309295.1
NP_001309296.1
NP_277031.1
NP_277032.1
NP_277033.1
NP_277035.2
XP_005269794.1
XP_011538034.1

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_000188.2NP_000179.2  hexokinase-1 isoform HKI

    See identical proteins and their annotated locations for NP_000179.2

    Status: REVIEWED

    Description
    Transcript Variant: 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
    P19367
    UniProtKB/TrEMBL
    A8K7J7, B3KXY9, Q59FD4
    Related
    ENSP00000352398.6, OTTHUMP00000019725, ENST00000359426.6, OTTHUMT00000048429
    Conserved Domains (3) summary
    PTZ00107
    Location:12460
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:469667
    Hexokinase_1; Hexokinase
    pfam03727
    Location:673907
    Hexokinase_2; Hexokinase
  2. NM_001322364.1NP_001309293.1  hexokinase-1 isoform HKI-ta/tb

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), along with variants 3 and 4, encodes isoform HKI-ta/tb.
    Source sequence(s)
    AC016821, AL596223
    Consensus CDS
    CCDS7289.1
    UniProtKB/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    A0A024QZK7
    Conserved Domains (3) summary
    PTZ00107
    Location:16464
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:473671
    Hexokinase_1; Hexokinase
    pfam03727
    Location:677911
    Hexokinase_2; Hexokinase
  3. NM_001322365.1NP_001309294.1  hexokinase-1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC016821, AL596223
    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
    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
    Conserved Domains (3) summary
    PTZ00107
    Location:430875
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:437635
    Hexokinase_1; Hexokinase
    pfam03727
    Location:641875
    Hexokinase_2; Hexokinase
  6. NM_033496.2NP_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, BC008730, BX406321
    Consensus CDS
    CCDS7291.1
    UniProtKB/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    B3KXY9
    Related
    ENSP00000298649.3, ENST00000298649.7
    Conserved Domains (3) summary
    PTZ00107
    Location:21459
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:468666
    Hexokinase_1; Hexokinase
    pfam03727
    Location:672906
    Hexokinase_2; Hexokinase
  7. NM_033497.2NP_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, and 6 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/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    A0A024QZK7, B3KXY9
    Conserved Domains (3) summary
    PTZ00107
    Location:16464
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:473671
    Hexokinase_1; Hexokinase
    pfam03727
    Location:677911
    Hexokinase_2; Hexokinase
  8. NM_033498.2NP_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, and 6 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/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    A0A024QZK7, B3KXY9, P78542
    Related
    ENSP00000402103.3, ENST00000448642.6
    Conserved Domains (3) summary
    PTZ00107
    Location:16464
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:473671
    Hexokinase_1; Hexokinase
    pfam03727
    Location:677911
    Hexokinase_2; Hexokinase
  9. 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
    Consensus CDS
    CCDS7290.1
    UniProtKB/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    B3KXY9, P78542
    Related
    ENSP00000353433.2, ENST00000360289.6
    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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011539732.1XP_011538034.1  hexokinase-1 isoform X1

    See identical proteins and their annotated locations for XP_011538034.1

    UniProtKB/Swiss-Prot
    P19367
    Conserved Domains (3) summary
    PTZ00107
    Location:10448
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:457655
    Hexokinase_1; Hexokinase
    pfam03727
    Location:661895
    Hexokinase_2; Hexokinase
  2. XM_005269737.1XP_005269794.1  hexokinase-1 isoform X2

    Conserved Domains (3) summary
    PTZ00107
    Location:1432
    PTZ00107; hexokinase; Provisional
    pfam00349
    Location:441639
    Hexokinase_1; Hexokinase
    pfam03727
    Location:645879
    Hexokinase_2; Hexokinase

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    71311204..71443383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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