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SLITRK1 (SLIT and NTRK like family member 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
114798
Gene nameGene Name - the full gene name approved by the HGNC.
SLIT and NTRK like family member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLITRK1
SynonymsGene synonyms aliases
LRRC12, TTM
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q31.1
SummarySummary of gene provided in NCBI Entrez Gene.
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 re
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs191284403 C>A,T Pathogenic 3 prime UTR variant
rs193302861 G>- Pathogenic Coding sequence variant, frameshift variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005653 hsa-miR-24-1-5p GFP reporter assay, In situ hybridization, Luciferase reporter assay 16224024
MIRT018680 hsa-miR-335-5p Microarray 18185580
MIRT1369719 hsa-miR-15a CLIP-seq
MIRT1369720 hsa-miR-15b CLIP-seq
MIRT1369721 hsa-miR-16 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19640509, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane TAS
GO:0007409 Process Axonogenesis IBA 21873635
GO:0007416 Process Synapse assembly IMP 27273464
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96PX8
Protein name SLIT and NTRK-like protein 1 (Leucine-rich repeat-containing protein 12)
Protein function It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321). Enhances neuronal dendrite outgrowth (PubMed:16224024, PubMed:19640509). {ECO:0000269|PubMed:16224024, ECO:0000269|PubMed:196405
PDB 4RCA , 4RCW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8
83 142
Leucine rich repeat
Repeat
PF13855 LRR_8
138 189
Leucine rich repeat
Repeat
Sequence
MLLWILLLETSLCFAAGNVTGDVCKEKICSCNEIEGDLHVDCEKKGFTSLQRFTAPTSQF
YHLFLHGNSLTRLFPNEFANFYNAVSLHMENNGLHEIVPGAFLGLQLVKRLHINNNKIKS
FRKQTFLGLDDLEYLQA
DFNLLRDIDPGAFQDLNKLEVLILNDNLISTLPANVFQYVPIT
HLDLRGNRL
KTLPYEEVLEQIPGIAEILLEDNPWDCTCDLLSLKEWLENIPKNALIGRVV
CEAPTRLQGKDLNETTEQDLCPLKNRVDSSLPAPPAQEETFAPGPLPTPFKTNGQEDHAT
PGSAPNGGTKIPGNWQIKIRPTAAIATGSSRNKPLANSLPCPGGCSCDHIPGSGLKMNCN
NRNVSSLADLKPKLSNVQELFLRDNKIHSIRKSHFVDYKNLILLDLGNNNIATVENNTFK
NLLDLRWLYMDSNYLDTLSREKFAGLQNLEYLNVEYNAIQLILPGTFNAMPKLRILILNN
NLLRSLPVDVFAGVSLSKLSLHNNYFMYLPVAGVLDQLTSIIQIDLHGNPWECSCTIVPF
KQWAERLGSEVLMSDLKCETPVNFFRKDFMLLSNDEICPQLYARISPTLTSHSKNSTGLA
ETGTHSNSYLDTSRVSISVLVPGLLLVFVTSAFTVVGMLVFILRNRKRSKRRDANSSASE
INSLQTVCDSSYWHNGPYNADGAHRVYDCGSHSLSD
Sequence length 696
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cell adhesion molecules   Receptor-type tyrosine-protein phosphatases
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Tourette syndrome Gilles de la Tourette syndrome, NON RARE IN EUROPE: Tourette syndrome rs193302861, rs191284403, rs267606861
Trichotillomania Trichotillomania rs193302861 17003809, 27812321, 16224024
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia
Dyssomnia Dyssomnias
Obsessive-compulsive disorder Obsessive compulsive behavior
Sleep disorders Sleep Disorders

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