U2AF homology motif kinase 1, also known as UHMK1, is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 which in humans is encoded by the UHMK1 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Function

UHMK1 is a kinase

Kinase

In chemistry and biochemistry, a kinase is a type of enzyme that transfers phosphate groups from high-energy donor molecules, such as ATP, to specific substrates, a process referred to as phosphorylation. Kinases are part of the larger family of phosphotransferases...

 enzyme which phosphorylate

Phosphorylation

Phosphorylation is the addition of a phosphate group to a protein or other organic molecule. Phosphorylation activates or deactivates many protein enzymes....

s the protein stathmin

Stathmin

Stathmin 1/oncoprotein 18, also known as STMN1, is a highly conserved 17 kDa protein. Its function as an important regulatory protein of microtubule dynamics has been well characterized. Eukaryotic microtubules are one of three major components of the cell’s cytoskeleton. They are highly dynamic...

 and has an RNA recognition motif of unknown function.

Clinical significance

UHMK1 is highly expressed in the brain and has been genetically implicated in schizophrenia

Schizophrenia

Schizophrenia is a mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests itself as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social...

 in two genetic studies. Mice with the gene encoding stathmin knocked out

Knockout mouse

A knockout mouse is a genetically engineered mouse in which researchers have inactivated, or "knocked out," an existing gene by replacing it or disrupting it with an artificial piece of DNA...

, so that they do not express this protein in the brain, show abnormal fear responses. This effect could be developed as an animal model for schizophrenia. UHMK1 also phosphorylates the CNS proteins myelin basic protein

Myelin basic protein

Myelin basic protein is a protein believed to be important in the process of myelination of nerves in the central nervous system .MBP was initially sequenced in 1971 after isolation from myelin membranes...

 (MBP) and synapsin I so that genetic abnormalities in UHMK1 could contribute to the genetic cause of schizophrenia through several different brain pathways.

Further reading