UHMK1
Description
The UHMK1 (U2AF homology motif kinase 1) is a protein-coding gene located on chromosome 1.
UHMK1 is a kinase enzyme that phosphorylates stathmin and has an RNA recognition motif of unknown function. It is highly expressed in the brain and has been genetically linked to schizophrenia in two genetic studies. Mice lacking stathmin in the brain exhibit abnormal fear responses, suggesting a potential animal model for schizophrenia. UHMK1 also phosphorylates the CNS proteins myelin basic protein (MBP) and synapsin I, indicating that genetic abnormalities in UHMK1 could contribute to schizophrenia through multiple brain pathways. UHMK1 is also implicated in the progression of various cancers, including gastric, liver, colorectal, cervical, and leukemia.
UHMK1 phosphorylates CDKN1B/p27Kip1 upon serum stimulation, regulating CDKN1B's subcellular localization and cell cycle progression during the G1 phase. It might also participate in RNA trafficking and/or processing.
UHMK1 is also known as KIS, KIST, P-CIP2.
Associated Diseases
- schizophrenia
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- Mobius syndrome
- glioblastoma
- cancer
