NRXN1 deletion syndrome (Homo sapiens)
From WikiPathways
Description
Mutations or loss of the NRXN1 gene is associated with severe brain disorders, autism, schizophrenia and developmental delay. NRXN1 binds to neurolignins bridging the synaptic cleft. Alternatively spliced NRXN1 and NRXN3 influence the expression of NMDA and AMPA receptors.
Quality Tags
Ontology Terms
Bibliography
- Comoletti D, Flynn R, Jennings LL, Chubykin A, Matsumura T, Hasegawa H, Südhof TC, Taylor P; ''Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
- Fan Y, Fei M, Li Y, Gao Z, Zhu Y, Dai G, Wu D; ''miR-196a-2 Promotes Malignant Progression of Thyroid Carcinoma by Targeting NRXN1.''; Comput Math Methods Med, 2021 PubMed Europe PMC Scholia
- Ichtchenko K, Nguyen T, Südhof TC; ''Structures, alternative splicing, and neurexin binding of multiple neuroligins.''; J Biol Chem, 1996 PubMed Europe PMC Scholia
- Dai J, Liakath-Ali K, Golf SR, Südhof TC; ''Distinct neurexin-cerebellin complexes control AMPA- and NMDA-receptor responses in a circuit-dependent manner.''; Elife, 2022 PubMed Europe PMC Scholia
- Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai Y, Rosahl TW, Südhof TC; ''Binding of neuroligins to PSD-95.''; Science, 1997 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
DLG4 | GeneProduct | ENSG00000132535 (Ensembl) | PSD-95 |
GRIA1 | GeneProduct | ENSG00000155511 (Ensembl) | |
GRIA2 | GeneProduct | ENSG00000120251 (Ensembl) | |
GRIA3 | GeneProduct | ENSG00000125675 (Ensembl) | |
GRIA4 | GeneProduct | ENSG00000152578 (Ensembl) | |
GRIN1 | GeneProduct | ENSG00000176884 (Ensembl) | |
GRIN2A | GeneProduct | ENSG00000183454 (Ensembl) | |
GRIN2B | GeneProduct | ENSG00000273079 (Ensembl) | |
GRIN2C | GeneProduct | ENSG00000161509 (Ensembl) | |
GRIN2D | GeneProduct | ENSG00000105464 (Ensembl) | |
GRIN3A | GeneProduct | ENSG00000198785 (Ensembl) | |
GRIN3B | GeneProduct | ENSG00000116032 (Ensembl) | |
NLGN1 | GeneProduct | ENSG00000169760 (Ensembl) | |
NLGN2 | GeneProduct | ENSG00000169992 (Ensembl) | |
NLGN3 | GeneProduct | ENSG00000196338 (Ensembl) | |
NLGN4X | GeneProduct | ENSG00000146938 (Ensembl) | |
NRXN1 | GeneProduct | ENSG00000179915 (Ensembl) | |
hsa-mir-196a-2 | Rna | MI0000279 (miRBase Sequence) | MIR196A2 |
Annotated Interactions
No annotated interactions