Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3098
Gene name Gene Name - the full gene name approved by the HGNC.
Hexokinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HK1
Synonyms (NCBI Gene) Gene synonyms aliases
CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, NMSR, RP79, hexokinase
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CNSHA5, HMSNR, NEDVIBA, RP79
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853249 T>C Pathogenic Missense variant, coding sequence variant
rs397514654 G>C Pathogenic 5 prime UTR variant, genic upstream transcript variant, intron variant
rs398122379 C>G Pathogenic Coding sequence variant, missense variant
rs777849213 G>A Likely-pathogenic Coding sequence variant, missense variant
rs797044964 G>C Pathogenic Intron variant, 5 prime UTR variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028427 hsa-miR-30a-5p Proteomics 18668040
MIRT052337 hsa-let-7b-5p CLASH 23622248
MIRT048894 hsa-miR-93-5p CLASH 23622248
MIRT047612 hsa-miR-10a-5p CLASH 23622248
MIRT047433 hsa-miR-10b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Cellular glucose homeostasis IBA 21873635
GO:0002720 Process Positive regulation of cytokine production involved in immune response IEA
GO:0004340 Function Glucokinase activity IBA 21873635
GO:0004340 Function Glucokinase activity ISS
GO:0004396 Function Hexokinase activity IMP 27374331
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142600 4922 ENSG00000156515
Protein
UniProt ID P19367
Protein name Hexokinase-1 (EC 2.7.1.1) (Brain form hexokinase) (Hexokinase type I) (HK I) (Hexokinase-A)
Protein 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-phospha
PDB 1CZA , 1DGK , 1HKB , 1HKC , 1QHA , 4F9O , 4FOE , 4FOI , 4FPA , 4FPB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00349 Hexokinase_1 21 219 Hexokinase Domain
PF03727 Hexokinase_2 225 459 Hexokinase Domain
PF00349 Hexokinase_1 469 667 Hexokinase Domain
PF03727 Hexokinase_2 673 907 Hexokinase Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2: Erythrocyte specific (Ref.6). Isoform 3: Testis-specific (PubMed:10978502). Isoform 4: Testis-specific (PubMed:10978502). {ECO:0000269|PubMed:10978502, ECO:0000269|Ref.6}.
Sequence
MIAAQLLAYYFTELKDDQVKKIDKYLYAMRLSDETLIDIMTRFRKEMKNGLSRDFNPTAT
VKMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKNQNVHMESEVYDTPENIVH
GSGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQSKIDEAILITWTKRFKASGV
EGADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCGY
DDQHCEVGLIIGTGTNACYME
ELRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTEFDREIDRGSLNPGKQLFEKMVSGM
YLGELVRLILVKMAKEGLLFEGRITPELLTRGKFNTSDVSAIEKNKEGLHNAKEILTRLG
VEPSDDDCVSVQHVCTIVSFRSANLVAATLGAILNRLRDNKGTPRLRTTVGVDGSLYKTH
PQYSRRFHKTLRRLVPDSDVRFLLSESGSGKGAAMVTAV
AYRLAEQHRQIEETLAHFHLT
KDMLLEVKKRMRAEMELGLRKQTHNNAVVKMLPSFVRRTPDGTENGDFLALDLGGTNFRV
LLVKIRSGKKRTVEMHNKIYAIPIEIMQGTGEELFDHIVSCISDFLDYMGIKGPRMPLGF
TFSFPCQQTSLDAGILITWTKGFKATDCVGHDVVTLLRDAIKRREEFDLDVVAVVNDTVG
TMMTCAY
EEPTCEVGLIVGTGSNACYMEEMKNVEMVEGDQGQMCINMEWGAFGDNGCLDD
IRTHYDRLVDEYSLNAGKQRYEKMISGMYLGEIVRNILIDFTKKGFLFRGQISETLKTRG
IFETKFLSQIESDRLALLQVRAILQQLGLNSTCDDSILVKTVCGVVSRRAAQLCGAGMAA
VVDKIRENRGLDRLNVTVGVDGTLYKLHPHFSRIMHQTVKELSPKCNVSFLLSEDGSGKG
AALITAV
GVRLRTEASS
Sequence length 917
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Fructose and mannose metabolism
Galactose metabolism
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Neomycin, kanamycin and gentamicin biosynthesis
Metabolic pathways
Carbon metabolism
Biosynthesis of nucleotide sugars
HIF-1 signaling pathway
Insulin signaling pathway
Type II diabetes mellitus
Carbohydrate digestion and absorption
Shigellosis
Central carbon metabolism in cancer
  Defective HK1 causes hexokinase deficiency (HK deficiency)
Glycolysis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Normocytic anemia, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
7655856, 12393545, 28135719
Charcot-marie-tooth disease Charcot-Marie-Tooth disease type 4G rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
28135719
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Progressive Supranuclear Palsy Progressive Supranuclear Palsy GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37576511, 38016997
Anemia Associate 19651813
Anemia Diamond Blackfan Associate 34526430
Anemia Hemolytic Associate 4980929
Anemia Hemolytic Congenital Associate 4027385
Anemia Hemolytic Congenital Nonspherocytic Associate 12393545, 19651813, 30778173, 4027385, 618553, 9197463
Attention Deficit Disorder with Hyperactivity Associate 20732627
Brain Diseases Associate 30778173
Breast Neoplasms Associate 25579456, 39684297
Carcinogenesis Associate 26476538, 39684297