Gene Details: HK1
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General Information
Gene Name: HK1 (Hexokinase-1)
Synonym:
Short Names:
Alternative Names: Brain form hexokinase;Hexokinase type I;Hexokinase-A;
Notes:
- Hexokinase 1 (HK1) phosphorylates various hexoses, such as glucose, fructose, and galactose in the cytoplasm.
- It phosphorylates glucose to create glucose-6-phosphate. This is the first step of glycolysis, and necessary to form nucleotide-sugars.
- Does NOT phosphorylate D-Nacetylglucosamine (GlcNAc).
- This enzyme is responsible for the catalysis of the first event of glycolysis: the phosphorylation of glucose to glucose-1-phosphate.
Description from Dr.Glyco-GPT:
Write a 100-350 word essay about the enzyme human HK1. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings ### Function Human HK1, or hexokinase 1, is an enzyme that plays a pivotal role in glucose metabolism. HK1 catalyzes the phosphorylation of glucose to glucose-6-phosphate, the first step in glycolysis. This reaction is essential for trapping glucose within the cell and committing it to further metabolic processes, including energy production, glycogen synthesis, and the pentose phosphate pathway. HK1 is crucial for providing cells with a steady supply of glucose-6-phosphate, which serves as a substrate for various metabolic pathways. ### Reaction Pathways HK1 functions in the glycolysis pathway, where it initiates the conversion of glucose into glucose-6-phosphate using ATP. This phosphorylated form of glucose is then further metabolized to produce energy in the form of ATP. Additionally, glucose-6-phosphate can enter other metabolic pathways, such as the pentose phosphate pathway, where it contributes to the production of NADPH and ribose-5-phosphate, or glycogen synthesis for energy storage. HK1’s activity is critical for maintaining cellular energy levels and metabolic homeostasis. ### Location HK1 is predominantly located in the cytoplasm, but it is also associated with the outer mitochondrial membrane. This dual localization allows HK1 to efficiently phosphorylate glucose as it enters the cell and simultaneously link glycolysis to mitochondrial energy production. The enzyme’s presence at the mitochondria is particularly important in tissues with high energy demands, such as the brain and muscles, where rapid and efficient glucose utilization is required. ### Diseases Mutations in the HK1 gene are associated with several metabolic disorders, including non-spherocytic hemolytic anemia and neuropathies. In hemolytic anemia, defective HK1 impairs glycolysis in red blood cells, leading to reduced ATP production and premature cell death. This results in chronic hemolysis and associated symptoms like fatigue, jaundice, and anemia. Additionally, HK1 mutations have been linked to rare forms of hereditary motor and sensory neuropathy, where the nervous system is affected due to impaired glucose metabolism. Understanding HK1’s role in these conditions is vital for developing targeted therapies to manage these metabolic and neurological disorders.
Catalytic Activity

Reaction and Disease Links
Brenda:
2.7.1.1
KEGG: 3098
Transcript levels (Cell lines and Single cell data) URL
CRISPR-knockout

CRISPR-activation

CRISPR-inactivation

Top 10 TFs
TF | Score |
---|---|
HNRNPK | 1.235812 |
SON | 1.233552 |
RBM39 | 1.218265 |
TCF25 | 1.216802 |
XRCC5 | 1.208695 |
PCBP1 | 1.197392 |
PCBP2 | 1.190456 |
UBE2I | 1.184672 |
SRSF3 | 1.178392 |
YY1 | 1.170949 |
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