Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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114798 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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SLITRK1 |
SynonymsGene synonyms aliases
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LRRC12, TTM |
ChromosomeChromosome number
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13 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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13q31.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs191284403 |
C>A,T |
Pathogenic |
3 prime UTR variant |
rs193302861 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
MLLWILLLETSLCFAAGNVTGDVCKEKICSCNEIEGDLHVDCEKKGFTSLQRFTAPTSQF YHLFLHGNSLTRLFPNEFANFYNAVSLHMENNGLHEIVPGAFLGLQLVKRLHINNNKIKS FRKQTFLGLDDLEYLQADFNLLRDIDPGAFQDLNKLEVLILNDNLISTLPANVFQYVPIT HLDLRGNRLKTLPYEEVLEQIPGIAEILLEDNPWDCTCDLLSLKEWLENIPKNALIGRVV CEAPTRLQGKDLNETTEQDLCPLKNRVDSSLPAPPAQEETFAPGPLPTPFKTNGQEDHAT PGSAPNGGTKIPGNWQIKIRPTAAIATGSSRNKPLANSLPCPGGCSCDHIPGSGLKMNCN NRNVSSLADLKPKLSNVQELFLRDNKIHSIRKSHFVDYKNLILLDLGNNNIATVENNTFK NLLDLRWLYMDSNYLDTLSREKFAGLQNLEYLNVEYNAIQLILPGTFNAMPKLRILILNN NLLRSLPVDVFAGVSLSKLSLHNNYFMYLPVAGVLDQLTSIIQIDLHGNPWECSCTIVPF KQWAERLGSEVLMSDLKCETPVNFFRKDFMLLSNDEICPQLYARISPTLTSHSKNSTGLA ETGTHSNSYLDTSRVSISVLVPGLLLVFVTSAFTVVGMLVFILRNRKRSKRRDANSSASE INSLQTVCDSSYWHNGPYNADGAHRVYDCGSHSLSD
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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.
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Associated diseases
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Alopecia |
Alopecia |
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Dyssomnia |
Dyssomnias |
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Obsessive-compulsive disorder |
Obsessive compulsive behavior |
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Sleep disorders |
Sleep Disorders |
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