HK1
entrez
3098
canonical
uniprot
P19367
canonical
ensembl
ENSG00000156515
resolver
ensp
ENSP00000298649
resolver
ensp
ENSP00000352398
resolver
ensp
ENSP00000409761
resolver
ensp
ENSP00000415949
resolver
ensp
ENSP00000494664
resolver
ensp
ENSP00000515578
resolver
ensp
ENSP00000515580
resolver
ensp
ENSP00000515581
resolver
ensp
ENSP00000515583
resolver
ensp
ENSP00000515588
resolver
ensp
ENSP00000574655
resolver
ensp
ENSP00000574656
resolver
ensp
ENSP00000574658
resolver
ensp
ENSP00000574659
resolver
ensp
ENSP00000741931
resolver
enst
ENST00000450646
resolver
enst
ENST00000470050
resolver
enst
ENST00000703945
resolver
enst
ENST00000703947
resolver
enst
ENST00000703949
resolver
enst
ENST00000703954
resolver
genesymbol
HK1
resolver
genesymbol
HK1-tb
resolver
genesymbol_syn
HK1-ta
resolver
hgnc
HGNC:4922
resolver
uniprot
A0A994J4Q0
resolver
uniprot
A0A994J6R1
resolver
uniprot
A0A994J753
resolver
uniprot
A0A994J758
resolver
uniprot
A0A994J761
resolver
uniprot
A0ACM8PXF9
resolver
uniprot
A8K7J7
resolver
uniprot
B1AR61
resolver
uniprot
B3KXY9
resolver
uniprot
E9PCK0
resolver
uniprot
O43443
resolver
uniprot
O43444
resolver
uniprot
O75574
resolver
uniprot
P78542
resolver
uniprot
Q59FD4
resolver
uniprot
Q5VTC3
resolver
uniprot
Q96HC8
resolver
uniprot
Q9NNZ4
resolver
uniprot
Q9NNZ5
resolver
uniprot_entry
A0A994J4Q0_HUMAN
resolver
uniprot_entry
A0A994J6R1_HUMAN
resolver
uniprot_entry
A0A994J753_HUMAN
resolver
uniprot_entry
A0A994J758_HUMAN
resolver
uniprot_entry
A0A994J761_HUMAN
resolver
uniprot_entry
A0ACM8PXF9_HUMAN
resolver
uniprot_entry
A8K7J7_HUMAN
resolver
uniprot_entry
B3KXY9_HUMAN
resolver
uniprot_entry
HXK1_HUMAN
resolver
uniprot_entry
P78542_HUMAN
resolver
uniprot_entry
Q59FD4_HUMAN
resolver
uniprot_sec
B1AR61
resolver
uniprot_sec
E9PCK0
resolver
uniprot_sec
O43443
resolver
uniprot_sec
O43444
resolver
uniprot_sec
O75574
resolver
uniprot_sec
Q5VTC3
resolver
uniprot_sec
Q96HC8
resolver
uniprot_sec
Q9NNZ4
resolver
uniprot_sec
Q9NNZ5
resolver
activity_regulation
ACTIVITY REGULATION: Hexokinase is an allosteric enzyme inhibited by its product D-glucose 6-phosphate (PubMed:1637300). Hexokinase activity is inhibited by N-acetyl-D-glucosamine (PubMed:27374331). {ECO:0000269|PubMed:1637300, ECO:0000269|PubMed:27374331}.
uniprot
proteins
amino_acid_sequence
MIAAQLLAYYFTELKDDQVKKIDKYLYAMRLSDETLIDIMTRFRKEMKNGLSRDFNPTATVKMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKNQNVHMESEVYDTPENIVHGSGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQSKIDEAILITWTKRFKASGVEGADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCGYDDQHCEVGLIIGTGTNACYMEELRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTEFDREIDRGSLNPGKQLFEKMVSGMYLGELVRLILVKMAKEGLLFEGRITPELLTRGKFNTSDVSAIEKNKEGLHNAKEILTRLGVEPSDDDCVSVQHVCTIVSFRSANLVAATLGAILNRLRDNKGTPRLRTTVGVDGSLYKTHPQYSRRFHKTLRRLVPDSDVRFLLSESGSGKGAAMVTAVAYRLAEQHRQIEETLAHFHLTKDMLLEVKKRMRAEMELGLRKQTHNNAVVKMLPSFVRRTPDGTENGDFLALDLGGTNFRVLLVKIRSGKKRTVEMHNKIYAIPIEIMQGTGEELFDHIVSCISDFLDYMGIKGPRMPLGFTFSFPCQQTSLDAGILITWTKGFKATDCVGHDVVTLLRDAIKRREEFDLDVVAVVNDTVGTMMTCAYEEPTCEVGLIVGTGSNACYMEEMKNVEMVEGDQGQMCINMEWGAFGDNGCLDDIRTHYDRLVDEYSLNAGKQRYEKMISGMYLGEIVRNILIDFTKKGFLFRGQISETLKTRGIFETKFLSQIESDRLALLQVRAILQQLGLNSTCDDSILVKTVCGVVSRRAAQLCGAGMAAVVDKIRENRGLDRLNVTVGVDGTLYKLHPHFSRIMHQTVKELSPKCNVSFLLSEDGSGKGAALITAVGVRLRTEASS
uniprot
proteins
disease_involvement
DISEASE: Anemia, congenital, non-spherocytic hemolytic, 5 (CNSHA5) [MIM:235700]: An autosomal recessive disorder characterized by hemolytic anemia as the predominant clinical feature, and decreased red cell hexokinase activity. {ECO:0000269|PubMed:12393545, ECO:0000269|PubMed:7655856}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuropathy, hereditary motor and sensory, Russe type (HMSNR) [MIM:605285]: An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. {ECO:0000269|PubMed:19536174, ECO:0000269|PubMed:34193129}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 79 (RP79) [MIM:617460]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP79 inheritance is autosomal dominant. {ECO:0000269|PubMed:25190649, ECO:0000269|PubMed:25316723}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547]: A disorder characterized by global developmental delay, speech delay, intellectual disability, structural brain abnormalities, and visual impairments including retinitis pigmentosa and optic atrophy. {ECO:0000269|PubMed:30778173}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.1
uniprot
proteins
function
FUNCTION: Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively) (PubMed:1637300, PubMed:25316723, PubMed:27374331). Does not phosphorylate N-acetyl-D-glucosamine (PubMed:27374331). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Involved in innate immunity and inflammation by acting as a pattern recognition receptor for bacterial peptidoglycan (PubMed:27374331). When released in the cytosol, N-acetyl-D-glucosamine component of bacterial peptidoglycan inhibits the hexokinase activity of HK1 and causes its dissociation from mitochondrial outer membrane, thereby activating the NLRP3 inflammasome (PubMed:27374331). {ECO:0000250|UniProtKB:P05708, ECO:0000269|PubMed:1637300, ECO:0000269|PubMed:25316723, ECO:0000269|PubMed:27374331}.
uniprot
proteins
mass_dalton
102486
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; hexose metabolism. {ECO:0000305|PubMed:1637300, ECO:0000305|PubMed:27374331}.; PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4. {ECO:0000250|UniProtKB:P05708}.
uniprot
proteins
protein_family
Hexokinase family
uniprot
proteins
pubmed
10574795
uniprot
proteins
pubmed
10686099
uniprot
proteins
pubmed
10978502
uniprot
proteins
pubmed
12393545
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1637300
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19536174
uniprot
proteins
pubmed
1985912
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22304920
uniprot
proteins
pubmed
25190649
uniprot
proteins
pubmed
25316723
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27374331
uniprot
proteins
pubmed
28675158
uniprot
proteins
pubmed
30778173
uniprot
proteins
pubmed
3207429
uniprot
proteins
pubmed
34193129
uniprot
proteins
pubmed
7655856
uniprot
proteins
pubmed
8706938
uniprot
proteins
pubmed
9028305
uniprot
proteins
pubmed
9493266
uniprot
proteins
pubmed
9531504
uniprot
proteins
pubmed
9735292
uniprot
proteins
sequence_length
917
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:1985912, ECO:0000269|PubMed:27374331}; Peripheral membrane protein {ECO:0000305}. Cytoplasm, cytosol {ECO:0000269|PubMed:27374331}. Note=The mitochondrial-binding peptide (MBP) region promotes association with the mitochondrial outer membrane (Probable). Dissociates from the mitochondrial outer membrane following inhibition by N-acetyl-D-glucosamine, leading to relocation to the cytosol (PubMed:27374331). {ECO:0000269|PubMed:27374331, ECO:0000305|PubMed:1985912}.
uniprot
proteins