SLITRK1
Developmental stage
At 20 weeks of gestation, expressed in multiple brain regions, including the developing neo-cortical plate, subplate zone, striatum, globus pallidus, thalamus and subthalamus.
Function
It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509).
Involvement in disease
Trichotillomania
TTM
A neuropsychiatric disorder characterized by chronic, repetitive, or compulsive hair pulling resulting in noticeable hair loss. Affected individuals may develop physical complications and often have overlapping psychological disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Undergoes proteolytic cleavage that results in shedding of the ectodomain and cleavage of the C-terminal cytoplasmic tail. Glycosylated. Phosphorylation at Ser-695 is necessary for proper function in promoting neurite outgrowth.
Sequence Similarities
Belongs to the SLITRK family.
Tissue Specificity
Expressed predominantly in the frontal lobe of the cerebral cortex of the brain. Also expressed in some astrocytic brain tumors such as astrocytomas, oligodendrogliomas, glioblastomas, gangliogliomas and primitive neuroectodermal tumors.
Cellular localization
- Membrane
- Single-pass type I membrane protein
- Secreted
- Synapse
Alternative names
KIAA1910, LRRC12, UNQ233/PRO266, SLITRK1, SLIT and NTRK-like protein 1, Leucine-rich repeat-containing protein 12