CIT

This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants.

Full Name

CIT

Function

Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2.

Biological Process

Actomyosin structure organization Source: GO_Central
Generation of neurons Source: UniProtKB
Intracellular signal transduction Source: InterPro
Mitotic cell cycle Source: UniProtKB
Mitotic cytokinesis Source: UniProtKB
Negative regulation of hippo signaling Source: FlyBase
Neuron apoptotic process Source: UniProtKB
Peptidyl-threonine phosphorylation Source: GO_Central
Positive regulation of cytokinesis Source: UniProtKB

Cellular Location

Cytoplasm

Involvement in disease

Microcephaly 17, primary, autosomal recessive (MCPH17):
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features.