HK1 (hexokinase 1)

Gene Basic Information

Gene Basic Information

symbol
HK1
locus group
protein-coding gene
location
10q22.1
gene_family
-
alias symbol
-
alias name
None
entrez id
3098
ensembl gene id
ENSG00000156515
ucsc gene id
uc001jpl.5
refseq accession
NM_000188
hgnc_id
HGNC:4922
approved reserved
2001-06-22

Chromosome Location

Chromosome Location

10q22.1

Gene Summary

Gene Summary

ChineseEnglish

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]

OMIM entry for HK1     Wikipedia entry for HK1

Gene Sequence

Gene Sequence

Nucleotide sequence of HK1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MIAAQLLAYY FTELKDDQVK KIDKYLYAMR LSDETLIDIM
41TRFRKEMKNG LSRDFNPTAT VKMLPTFVRS IPDGSEKGDF
81 IALDLGGSS FRILRVQVNH EKNQNVHMES EVYDTPENIV
121HGSGSQLFDH VAECLGDFME KRKIKDKKLP VGFTFSFPCQ
161Q SKIDEAIL ITWTKRFKAS GVEGADVVKL LNKAIKKRGD
201YDANIVAVVN DTVGTMMTCG YDDQHCEVGL IIGTGTNACY
241ME ELRHIDL VEGDEGRMCI NTEWGAFGDD GSLEDIRTEF
281DREIDRGSLN PGKQLFEKMV SGMYLGELVR LILVKMAKEG
321LLF EGRITP ELLTRGKFNT SDVSAIEKNK EGLHNAKEIL
361TRLGVEPSDD DCVSVQHVCT IVSFRSANLV AATLGAILNR
401LRDN KGTPR LRTTVGVDGS LYKTHPQYSR RFHKTLRRLV
441PDSDVRFLLS ESGSGKGAAM VTAVAYRLAE QHRQIEETLA
481HFHLT KDML LEVKKRMRAE MELGLRKQTH NNAVVKMLPS
521FVRRTPDGTE NGDFLALDLG GTNFRVLLVK IRSGKKRTVE
561MHNKIY AIP IEIMQGTGEE LFDHIVSCIS DFLDYMGIKG
601PRMPLGFTFS FPCQQTSLDA GILITWTKGF KATDCVGHDV
641VTLLRDA IK RREEFDLDVV AVVNDTVGTM MTCAYEEPTC
681EVGLIVGTGS NACYMEEMKN VEMVEGDQGQ MCINMEWGAF
721GDNGCLDD I RTHYDRLVDE YSLNAGKQRY EKMISGMYLG
761EIVRNILIDF TKKGFLFRGQ ISETLKTRGI FETKFLSQIE
801SDRLALLQV RAILQQLGLN STCDDSILVK TVCGVVSRRA
841AQLCGAGMAA VVDKIRENRG LDRLNVTVGV DGTLYKLHPH
881FSRIMHQTVK ELSPKCNVS FLLSEDGSGK GAALITAVGV
921RLRTEASS
Structure predicted by AlphaFold DB(UniProt: P19367). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

Gene Variants

Gene Variants

SNP variants of HK1:           Showing partial SNPs
rs12216       rs12751       rs13139       rs14006       rs14382       rs748235       rs749105       rs749106       rs749107       rs749108       rs891564       rs906215       rs906216       rs906220       rs906221       rs906222       rs906223      

Gene Expression

Gene Expression

Tissue expression of HK1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
AAATAGATGAGGCCATCCTG
57
TACGATGTTGGCATCATAGTC
58
GCTGAAAGTGAGATGGTCC
58
CACTCCATTTGGGAGTTGG
59
TACTGTGGTAGTCCTGGTG
58
TTGGTTAGTTGAAGTCCACAC
59
TCTCAGATCGAGAGTGACC
58
CATCGCAGGTGCTATTCAG
59
TCTCAGATCGAGAGTGACC
58
CATCGCAGGTGCTATTCAG
59
ACTTGCTGAAAGTGAGATTGAC
59
ATCTCCTTCCTGAAGCGAG
59
TCATAGGAAGGGCTCTTCAC
59
GATACTTGTCAATCTGAGAACCC
59
GAAGAACAAGCAAAGGCGT
59
CTTGTCAATCTCACTTTCAGCA
59
GAGATTGGGATTGACAAGTATCTC
59
CATCTCCTTCCTGAAGCGA
59
TTGGATTGCAAGGACAGTG
58
GAGCATCAACAATGCTCAC
57

Gene Ontology

Subcellular localization of HK1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for HK1:

GO ID
Protein
Source DB
GO:0001678
B1AR61 (UniProtKB)
IEA
GO:0004396
B1AR61 (UniProtKB)
IEA
GO:0005524
B1AR61 (UniProtKB)
IEA
GO:0005536
B1AR61 (UniProtKB)
IEA
GO:0005623
B1AR61 (UniProtKB)
IEA
GO:0006096
B1AR61 (UniProtKB)
IEA
GO:0046835
B1AR61 (UniProtKB)
IEA
GO:0001678
B1AR62 (UniProtKB)
IEA
GO:0004396
B1AR62 (UniProtKB)
IEA
GO:0005524
B1AR62 (UniProtKB)
IEA
GO:0005536
B1AR62 (UniProtKB)
IEA
GO:0005623
B1AR62 (UniProtKB)
IEA
GO:0006096
B1AR62 (UniProtKB)
IEA
GO:0046835
B1AR62 (UniProtKB)
IEA
GO:0001678
B1AR63 (UniProtKB)
IEA
GO:0004396
B1AR63 (UniProtKB)
IEA
GO:0005524
B1AR63 (UniProtKB)
IEA
GO:0005536
B1AR63 (UniProtKB)
IEA
GO:0005623
B1AR63 (UniProtKB)
IEA
GO:0006096
B1AR63 (UniProtKB)
IEA
GO:0046835
B1AR63 (UniProtKB)
IEA
GO:0001678
P19367 (UniProtKB)
IBA
GO:0004340
P19367 (UniProtKB)
IBA
GO:0004340
P19367 (UniProtKB)
TAS
GO:0004396
P19367 (UniProtKB)
TAS
GO:0005515
P19367 (UniProtKB)
IPI
GO:0005524
P19367 (UniProtKB)
IEA
GO:0005536
P19367 (UniProtKB)
IEA
GO:0005739
P19367 (UniProtKB)
IDA
GO:0005741
P19367 (UniProtKB)
IEA
GO:0005829
P19367 (UniProtKB)
IBA
GO:0005829
P19367 (UniProtKB)
TAS
GO:0006096
P19367 (UniProtKB)
TAS
GO:0008865
P19367 (UniProtKB)
IBA
GO:0015758
P19367 (UniProtKB)
TAS
GO:0019158
P19367 (UniProtKB)
IBA
GO:0045121
P19367 (UniProtKB)
IEA
GO:0046835
P19367 (UniProtKB)
IEA
GO:0051156
P19367 (UniProtKB)
IEA
GO:0061621
P19367 (UniProtKB)
TAS
GO:0072655
P19367 (UniProtKB)
IMP
GO:0072656
P19367 (UniProtKB)
IMP
GO:0097228
P19367 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating HK1:     

Gene Interactions

Gene Interactions

BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 0.44 2 0 CTD_human_MGD_ORPHANET_UNIPROT
Neuropathy, hereditary motor and sensory, Russe type 0.24 0 2 CLINVAR_ORPHANET
Diabetes Mellitus, Non-Insulin-Dependent 0.125276948 5 1 BeFree_CTD_human_GAD
Hemoglobin Adverse Event 0.122367032 1 1 GAD_GWASCAT
Hematocrit level 0.122367032 1 1 GAD_GWASCAT
Myocardial Ischemia 0.12 1 0 CTD_human
Hemolytic anemia due to hexokinase deficiency 0.12 0 2 CLINVAR
Diabetes Mellitus, Experimental 0.12 1 0 CTD_human
Obesity 0.082638474 3 0 BeFree_GAD_RGD
Schizophrenia 0.005720142 3 0 BeFree_LHGDN

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Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.
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