CERK
Description
The CERK (ceramide kinase) is a protein-coding gene located on chromosome 22.
Ceramide kinase (CERK), also known as Acylsphingosine kinase, is an enzyme that catalyzes the chemical reaction: ATP + ceramide ⇌ ADP + ceramide 1-phosphate. It belongs to the family of transferases, specifically those transferring phosphorus-containing groups (phosphotransferases) with an alcohol group as acceptor. The systematic name of this enzyme class is ATP:ceramide 1-phosphotransferase. CERK is encoded by the CERK gene located on human chromosome 22q13. The gene contains 13 exons and is approximately 4.5kb in length. CERK shares sequence homology with sphingosine kinase type I, including an N-terminal pleckstrin homology (PH) domain and a diacylglycerol kinase domain. Orthologous CERK genes have been found in other eukaryotes including Drosophila melanogaster, Caenorhabditis elegans, and Oryza sativa. A mouse homolog has also been cloned.
Ceramide kinase (CERK) catalyzes the phosphorylation of ceramide to form ceramide 1-phosphate. It acts efficiently on natural and analog ceramides, including C6, C8, C16 ceramides, and C8-dihydroceramide. It has a lesser activity on C2-ceramide and C6-dihydroceramide but does not act on other lipids, such as various sphingosines. CERK shows a greater preference for the D-erythro isomer of ceramides and binds phosphoinositides.
CERK is also known as LK4, dA59H18.2, dA59H18.3, hCERK.
Associated Diseases
- breast cancer
- isolated agammaglobulinemia
- autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- X-linked severe congenital neutropenia
- immunodeficiency 53
- autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- neutropenia, severe congenital, 1, autosomal dominant
- combined immunodeficiency due to moesin deficiency
- primary immunodeficiency syndrome due to p14 deficiency
- TFRC-related combined immunodeficiency
- mannose-binding lectin deficiency
- monocytopenia with susceptibility to infections
