SLITRK1

SLITRK1 enhances neuronal dendrite outgrowth.

SLITRK1 Related Areas

Neuroscience>>Axon Guidance>>SLITRK>>SLITRK1

SLITRK1 Alternative Names

SLITRK1, FLJ54428, KIAA0918, KIAA1910, LRRC12, RP11-395N17.1 [Homo sapiens]

Slitrk1, 3200001I04Rik [Mus musculus]

Summaries for SLITRK1

Entrez Gene summary for SLITRK1:

This intronless gene encodes a member of the SLITRK protein family. These proteins are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by SLITRK1 gene lacks the region of homology to neurotrophin receptors. The protein is thought to be involved in neurite outgrowth. Mutations in SLITRK1 gene may be associated with Tourette syndrome.[provided by RefSeq, Mar 2010]

OMIM - description for SLITRK1:

Members of the SLITRK family, such as SLITRK1, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1). Most SLITRKs, but not SLITRK1, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003).

Wikipedia summary for SLITRK1:

SLITRK1 ("SLIT and NTRK-like family, member 1") is a human gene on chromosome 13q31.1. In 2005, medical researchers observed a de novo chromosomal abnormality in a patient with Tourette syndrome (TS) which broke the patient's chromosome near SLITRK1. In screening of additional patients, the authors observed a frameshift mutation in SLITRK1 in a patient with TS and the same rare non-coding variant in two patients with TS. These variants were not found in several thousand controls supporting an association of the variants with TS. Mutations in SLITRK1 were postulated as a rare cause of Tourette syndrome.
It is hypothesized that this mutation in SLITRK1 may be a direct or indirect cause (tourettism) of Tourette syndrome in this small subset (1–2%) of Tourette's patients. The ultimate impact of this research finding to the population of Tourette Syndrome patients as a whole is unclear. SLITRK1, while not a major gene implicated in the cause of Tourette syndrome, can help contribute to understanding of Tourette's.
A subsequent examination of the region of the SLITRK1 gene found the mutation in none of 82 patients with Tourette syndrome. The authors concluded that tests to detect variant(s) in the gene probably would have little diagnostic utility.
The SLITRK1 gene has also been implicated in a small percentage of cases of trichotillomania, an impulse disorder where the patients compulsively pull their own hair.

Human SLITRK1 Protein General Information

 

• Protein names: SLIT and NTRK-like protein 1
  Short name=SLITRK1
• Sequence length: 696 AA.
• Domain: Leucine-rich repeat
  Repeat
  Signal
  Transmembrane
  Transmembrane helix
• Sequence similarities: Belongs to the SLITRK family.
  Contains 12 LRR (leucine-rich) repeats.
  Contains 2 LRRCT domains.
  Contains 2 LRRNT domains.
• 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.
• Sequence caution: The sequence BAB67803.1 differs from that shown. Reason: Erroneous initiation.
• Subcellular location: Membrane; Single-pass type I membrane protein
• 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.
• Involvement in disease: Defects in SLITRK1 may be a cause of Gilles de la Tourette syndrome (GTS) . GTS is a neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities.
  Defects in SLITRK1 may be a cause of trichotillomania (TTM) . It is 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 psychologic disorders, such as Gilles de la Tourette syndrome or obsessive-compulsive disorder.

General information above from UniProt

Function for SLITRK1 Protein

UniProtKB:

SLITRK1 enhances neuronal dendrite outgrowth.

Genatlas:

• SLITRK1 enhances neurite outgrowth and involved in neuronal differentiation
• SLITRK1 roles of SLIRTK1 in developmental neuropsychiatric conditions (Kajiwara 2009)

Homology for human SLITRK1

• ortholog to murine Slitrk1

Phenotype Information for SLITRK1

• Gene/Locus: SLITRK1, KIAA1910, TTM
• Phenotype: Tourette syndrome
  Trichotillomania

Phenotype Information for SLITRK1 from OMIM (Online Mendelian Inheritance in Man)