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:


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 Image

Reaction and Disease Links

EC # (IUBMB): 2.7.1.1 2.7.1.1 2.7.1.1 2.7.1.1 2.7.1.1
Brenda: 2.7.1.1
OMIM: 142600 235700 605285 617460 618547
KEGG: 3098
Rhea: 22740 16125 17825 11028 10948
Reactome : R-HSA-5619056 R-HSA-70171

Transcript levels (Cell lines and Single cell data) URL


CRISPR-knockout

CRISPR-activation

CRISPR-inactivation


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UBE2I 1.184672
SRSF3 1.178392
YY1 1.170949


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