HK1 hexokinase 1 [Homo sapiens (human)]
| Gene Symbol | HK1 |
| Entrez Gene ID | 3098 |
| Full Name | hexokinase 1 |
| Synonyms | HK1-ta, HK1-tb, HK1-tc, HKI, HXK1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
10 10q22 |
| 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]. |
| Disorder | MIM: 142600 Hemolytic anemia due to hexokinase deficiency, 235700 (3) |
| mRNA | NM_033496, 188497748 |
| Protein | NP_277031, 15991827 |
| Product | hexokinase-1 isoform HKI-R |
| RefSeq Status | REVIEWED |
| mRNA | NM_033500, 188497749 |
| Protein | NP_277035, 188497750 |
| Product | hexokinase-1 isoform HKI-td |
| RefSeq Status | REVIEWED |
| mRNA | NM_033498, 188497751 |
| Protein | NP_277033, 15991831 |
| Product | hexokinase-1 isoform HKI-ta/tb |
| RefSeq Status | REVIEWED |
| mRNA | NM_033497, 188497752 |
| Protein | NP_277032, 15991829 |
| Product | hexokinase-1 isoform HKI-ta/tb |
| RefSeq Status | REVIEWED |
| mRNA | NM_000188, 188497753 |
| Protein | NP_000179, 188497754 |
| Product | hexokinase-1 isoform HKI |
| RefSeq Status | REVIEWED |
| hsa04910 | Insulin signaling pathway |
| hsa00500 | Starch and sucrose metabolism |
| hsa04973 | Carbohydrate digestion and absorption |
| hsa00051 | Fructose and mannose metabolism |
| hsa00010 | Glycolysis / Gluconeogenesis |
| hsa04930 | Type II diabetes mellitus |
| hsa00524 | Butirosin and neomycin biosynthesis |
| hsa00520 | Amino sugar and nucleotide sugar metabolism |
| hsa01100 | Metabolic pathways |
| hsa00052 | Galactose metabolism |
WikiPathways
| WP534 | Glycolysis and Gluconeogenesis |
Pathway Interaction Database
| hif1_tfpathway | HIF-1-alpha transcription factor network |
Reactome
| REACT_15518 | Transmembrane transport of small molecules |
| REACT_474 | Metabolism of carbohydrates |
| REACT_9441 | Hexose transport |
| REACT_19118 | SLC-mediated transmembrane transport |
| REACT_212 | Glucose transport |
| Homo sapiens (human) | HK1 | NP_000179.2 |
| Pan troglodytes (chimpanzee) | HK1 | XP_001169069.1 |
| Canis lupus familiaris (dog) | HK1 | XP_536376.2 |
| Bos taurus (cattle) | HK1 | NP_776744.1 |
| Mus musculus (house mouse) | Hk1 | NP_034568.1 |
| Gallus gallus (chicken) | HK1 | NP_989432.1 |
| Danio rerio (zebrafish) | hk1 | NP_998417.1 |
| Drosophila melanogaster (fruit fly) | Hex-t2 | NP_733151.2 |
| Arabidopsis thaliana (thale cress) | HXK2 | NP_179576.1 |
| Arabidopsis thaliana (thale cress) | HXK1 | NP_194642.1 |
| ID | Name | Evidence |
| GO:0005975 | carbohydrate metabolic process | TAS |
| GO:0006096 | glycolysis | IEA |
| GO:0008645 | hexose transport | TAS |
| GO:0015758 | glucose transport | TAS |
| GO:0051156 | glucose 6-phosphate metabolic process | TAS |
| GO:0055085 | transmembrane transport | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IDA |
| GO:0005730 | nucleolus | IDA |
| GO:0005739 | mitochondrion | IDA |
| GO:0005741 | mitochondrial outer membrane | IEA |
| GO:0005829 | cytosol | TAS |
| GO:0016020 | membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0004340 | glucokinase activity | TAS |
| GO:0004396 | hexokinase activity | TAS |
| GO:0005524 | ATP binding | IEA |
| GO:0016301 | kinase activity | IEA |
| GO:0016740 | transferase activity | IEA |
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