NRXN1 deletion syndrome (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Alternatively splicedNrxn1SS4+AMPA receptorGRIA4GRIA1GRIA2GRIA3NMDA receptorGRIN3BGRIN2CGRIN2BGRIN1GRIN3AGRIN2AGRIN2DNLGN4XNRXN1NLGN2DLG4NLGN1NLGN3hsa-mir-196a-2Name: NRXN1 deletion syndromeOrganism: Homo sapiens


Description

Mutations or loss of the NRXN1 gene, located on chromosome 2, 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.

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Quality Tags

Image:Wplogo_31.pngCommunity: Rare Diseases
Image:Curated.pngApproved version

Ontology Terms

Pathway Ontology : Notch signaling pathway
 

Bibliography

  1. 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
  2. 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
  3. Ichtchenko K, Nguyen T, Südhof TC; ''Structures, alternative splicing, and neurexin binding of multiple neuroligins.''; J Biol Chem, 1996 PubMed Europe PMC Scholia
  4. 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
  5. 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

View all...
CompareRevisionActionTimeUserComment
134435
Approved
view23:33, 21 July 2024EweitzStandardize case
127052view10:14, 26 July 2023FehrhartOntology Term : 'paranoid schizophrenia' added !
127051view10:14, 26 July 2023FehrhartOntology Term : 'autism spectrum disorder' added !
127050view10:14, 26 July 2023FehrhartOntology Term : 'schizophrenia pathway' added !
127049view10:14, 26 July 2023FehrhartOntology Term : 'disease pathway' added !
127048
RARE
view10:13, 26 July 2023FehrhartModified description
127047view10:12, 26 July 2023FehrhartNew pathway

External references

DataNodes

View all...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
DLG4GeneProductENSG00000132535 (Ensembl) PSD-95
GRIA1GeneProductENSG00000155511 (Ensembl)
GRIA2GeneProductENSG00000120251 (Ensembl)
GRIA3GeneProductENSG00000125675 (Ensembl)
GRIA4GeneProductENSG00000152578 (Ensembl)
GRIN1GeneProductENSG00000176884 (Ensembl)
GRIN2AGeneProductENSG00000183454 (Ensembl)
GRIN2BGeneProductENSG00000273079 (Ensembl)
GRIN2CGeneProductENSG00000161509 (Ensembl)
GRIN2DGeneProductENSG00000105464 (Ensembl)
GRIN3AGeneProductENSG00000198785 (Ensembl)
GRIN3BGeneProductENSG00000116032 (Ensembl)
NLGN1GeneProductENSG00000169760 (Ensembl)
NLGN2GeneProductENSG00000169992 (Ensembl)
NLGN3GeneProductENSG00000196338 (Ensembl)
NLGN4XGeneProductENSG00000146938 (Ensembl)
NRXN1GeneProductENSG00000179915 (Ensembl)
hsa-mir-196a-2RnaMI0000279 (miRBase Sequence) MIR196A2

Annotated Interactions

No annotated interactions

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