Gene Details: FCSK


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General Information

Gene Name: FCSK (L-fucose kinase)
Synonym: FUK
Short Names: Fucokinase;
Alternative Names:

Notes:


Description from Dr.Glyco-GPT:

Write a 100-350 word essay about the enzyme human FCSK. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings


### Function

Human FCSK (fucokinase) is an enzyme responsible for the phosphorylation of free fucose, converting it into fucose-1-phosphate. This reaction is the first step in the fucose salvage pathway, which allows the body to reuse fucose obtained from the breakdown of glycoproteins and glycolipids. FCSK plays a vital role in maintaining the levels of GDP-fucose, a donor molecule essential for the fucosylation of glycoproteins and glycolipids.

### Reaction Pathways

FCSK catalyzes the phosphorylation of free fucose to produce fucose-1-phosphate, which is then converted into GDP-fucose by GDP-fucose pyrophosphorylase. GDP-fucose is a critical substrate for fucosyltransferases, enzymes that transfer fucose to glycoproteins and glycolipids during their biosynthesis. This salvage pathway is crucial for cells that require high levels of fucosylation, particularly in the liver and other tissues involved in glycoprotein turnover.

### Location

FCSK is primarily localized in the cytoplasm, where it interacts with free fucose molecules. This cytoplasmic localization is essential for its role in the salvage pathway, as it allows the enzyme to efficiently capture and phosphorylate free fucose generated from the degradation of glycoconjugates. The activity of FCSK in the cytoplasm ensures a steady supply of GDP-fucose, which is vital for the proper function of many cellular processes.

### Diseases

Mutations in the FCSK gene can lead to a severe neurological condition characterized by encephalopathy, intractable seizures, and intellectual disability. This condition underscores the importance of FCSK in maintaining adequate levels of GDP-fucose for essential cellular functions, particularly in the brain. The disruption of fucosylation processes due to FCSK deficiency highlights its critical role in neurodevelopment and the proper functioning of the nervous system.

In summary, human FCSK is a key enzyme in the fucose salvage pathway, responsible for phosphorylating free fucose to maintain GDP-fucose levels. Its cytoplasmic location enables efficient functioning in this pathway, and mutations in FCSK can lead to severe neurological disorders, emphasizing its importance in human health.

Catalytic Activity

Reaction Image

Reaction and Disease Links

EC # (IUBMB): 2.7.1.52
Brenda: 2.7.1.52
OMIM: 608675 618324
KEGG: 197258
Rhea: 13241
Reactome : R-HSA-6787639

Transcript levels (Cell lines and Single cell data) URL


CRISPR-knockout

CRISPR-activation

CRISPR-inactivation


Top 10 TFs

TF Score
UBE2I 0.137371
TCF25 0.136335
NCOR1 0.134090
SNRNP70 0.133305
SSU72 0.132436
SUMO1 0.131750
YY1 0.131425
EWSR1 0.131090
NONO 0.130980
PHB2 0.129328


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