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HK1 hexokinase 1 [ Homo sapiens (human) ]

Gene ID: 3098, updated on 11-Sep-2014
Official Symbol
HK1provided by HGNC
Official Full Name
hexokinase 1provided by HGNC
Primary source
HGNC:HGNC:4922
See related
Ensembl:ENSG00000156515; HPRD:00809; 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
HKD; HKI; HXK1; HMSNR; HK1-ta; HK1-tb; HK1-tc
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 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]
Location:
10q22
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (69269984..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 suppressor of var1, 3-like 1 (S. cerevisiae) Neighboring gene uncharacterized LOC101928994 Neighboring gene hexokinase domain containing 1 Neighboring gene ribosomal protein S15a pseudogene 28 Neighboring gene tachykinin receptor 2 Neighboring gene tetraspanin 15 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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: C0472792 OMIM: 235700 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 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 Protein 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
 
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
 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
carbohydrate phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
carbohydrate phosphorylation TAS
Traceable Author Statement
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
cellular glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
glucose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
glucose transport TAS
Traceable Author Statement
more info
 
glycolytic process IBA
Inferred from Biological aspect of Ancestor
more info
 
hexose metabolic process IEA
Inferred from Electronic Annotation
more info
 
hexose transport TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
hexokinase-1
Names
hexokinase-1
HK I
glycolytic enzyme
hexokinase type I
brain form hexokinase
NP_000179.2
NP_277031.1
NP_277032.1
NP_277033.1
NP_277035.2

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 

    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 proteins identical to 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/TrEMBL
    A8K7J7
    UniProtKB/TrEMBL
    B3KXY9
    UniProtKB/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    Q59FD4
    Related
    ENSP00000352398, OTTHUMP00000019725, ENST00000359426, OTTHUMT00000048429
    Conserved Domains (3) summary
    cd00012
    Location:529692
    Blast Score: 172
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:12460
    Blast Score: 882
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:672907
    Blast Score: 1052
    Hexokinase_2; Hexokinase
  2. NM_033496.2NP_277031.1  hexokinase-1 isoform HKI-R

    See proteins identical to 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/TrEMBL
    B3KXY9
    UniProtKB/Swiss-Prot
    P19367
    Related
    ENSP00000298649, ENST00000298649
    Conserved Domains (3) summary
    cd00012
    Location:528691
    Blast Score: 171
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:21459
    Blast Score: 880
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:671906
    Blast Score: 1051
    Hexokinase_2; Hexokinase
  3. NM_033497.2NP_277032.1  hexokinase-1 isoform HKI-ta/tb

    See proteins identical to NP_277032.1

    Status: REVIEWED

    Description
    Transcript Variant: Variant 3 (HKI-ta) includes four testis-specific exons in the 5' end. Both variants 3 and 4 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
    A0A024QZK7
    UniProtKB/TrEMBL
    B3KXY9
    UniProtKB/Swiss-Prot
    P19367
    Conserved Domains (4) summary
    cd00012
    Location:533696
    Blast Score: 172
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:16464
    Blast Score: 882
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:676911
    Blast Score: 1051
    Hexokinase_2; Hexokinase
    cl19623
    Location:2481
    Blast Score: 87
    ArsR; ArsR transcriptional regulator
  4. NM_033498.2NP_277033.1  hexokinase-1 isoform HKI-ta/tb

    See proteins identical to 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. Both variants 3 and 4 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
    A0A024QZK7
    UniProtKB/TrEMBL
    B3KXY9
    UniProtKB/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    P78542
    Related
    ENSP00000402103, ENST00000448642
    Conserved Domains (4) summary
    cd00012
    Location:533696
    Blast Score: 172
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:16464
    Blast Score: 882
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:676911
    Blast Score: 1051
    Hexokinase_2; Hexokinase
    cl19623
    Location:2481
    Blast Score: 87
    ArsR; ArsR transcriptional regulator
  5. NM_033500.2NP_277035.2  hexokinase-1 isoform HKI-td

    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/TrEMBL
    B3KXY9
    UniProtKB/Swiss-Prot
    P19367
    UniProtKB/TrEMBL
    P78542
    Related
    ENSP00000353433, ENST00000360289
    Conserved Domains (3) summary
    cd00012
    Location:517680
    Blast Score: 171
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:10448
    Blast Score: 879
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:660895
    Blast Score: 1051
    Hexokinase_2; Hexokinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    69269984..69401882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269736.1XP_005269793.1  

    See proteins identical to XP_005269793.1

    UniProtKB/TrEMBL
    A0A024QZK7
    UniProtKB/Swiss-Prot
    P19367
    Conserved Domains (4) summary
    cd00012
    Location:533696
    Blast Score: 172
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:16464
    Blast Score: 882
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:676911
    Blast Score: 1051
    Hexokinase_2; Hexokinase
    cl19623
    Location:2481
    Blast Score: 87
    ArsR; ArsR transcriptional regulator
  2. XM_005269735.1XP_005269792.1  

    Conserved Domains (3) summary
    cd00012
    Location:572735
    Blast Score: 171
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:65503
    Blast Score: 883
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:715950
    Blast Score: 1052
    Hexokinase_2; Hexokinase
  3. XM_005269737.1XP_005269794.1  

    Conserved Domains (3) summary
    cd00012
    Location:501664
    Blast Score: 171
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    PTZ00107
    Location:1432
    Blast Score: 874
    PTZ00107; hexokinase; Provisional
    pfam03727
    Location:644879
    Blast Score: 1051
    Hexokinase_2; Hexokinase

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    65029590..65161554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

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