SLITRK1
Sign in to saveAlso known as LRRC12, TTM, SLIT and NTRK like family member 1
SLITRK1 ("SLIT and NTRK-like family, member 1") is a human gene that codes for a transmembrane signalling protein that is part of the SLITRK gene family, which is responsible for synapse regulation and presynaptic differentiation in the brain. Expression of the gene has been linked to early formation of excitatory synapses through binding with receptor tyrosine phosphatase PTP (LAR-RPTP). Various studies over the years have linked mutations in the gene to conditions on the OCD spectrum, Tourette syndrome and trichotillomania, however the mutations in the genome itself vary greatly between indi
Gene data
SLITRK1- Name
- SLIT and NTRK like family member 1
- Type
- protein-coding
- Aliases
- LRRC12, TTM
This gene encodes a member of the SLITRK protein family. Members of this family 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 this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
via MyGene.info
Gene · Ensembl
SLIT and NTRK like family member 1
- Symbol
- SLITRK1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 13:83,877,205-83,882,474
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 14174
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/114798
- genomic end
- 83882474
- genomic start
- 84451344
- chromosome
- human chromosome 13
- cytogenetic location
- 13q31.1
- genetic association
- trichotillomania
- expressed in
- Brodmann area 9
Sources (4)
via Wikidata · CC0
~7 min read
Encyclopedic overview
10 sectionsContents
- Gene
- Protein structure
- Function
- Interaction with LAR-RPTP
- Clinical significance
- Tourette syndrome
- Trichotillomania
- See also
- References
- Further reading
SLITRK1 ("SLIT and NTRK-like family, member 1") is a human gene that codes for a transmembrane signalling protein that is part of the SLITRK gene family, which is responsible for synapse regulation and presynaptic differentiation in the brain. Expression of the gene has been linked to early formation of excitatory synapses through binding with receptor tyrosine phosphatase PTP (LAR-RPTP). Various studies over the years have linked mutations in the gene to conditions on the OCD spectrum, Tourette syndrome and trichotillomania, however the mutations in the genome itself vary greatly between individuals, with most mutations observed being hard to find in repeat studies.
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; MIM 603742). Most SLITRKs, but not SLITRK1, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003).
Excerpted from Wikipedia’s “SLITRK1” article, available under the CC BY-SA 4.0 licence.