NRXN1
Summary: This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Nameneurexin 1 OMIM IDMIM:600565 Ensembl IDEnsembl:ENSG00000179915 HGNC IDHGNC:HGNC:8008 PHARMGKB IDPA31786 Map Location2p16.3 | |||||
GO terms in NRXN1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005730 | nucleolus |
| CC | ISS | GO:0005783 | endoplasmic reticulum |
| CC | IC | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
Gene expression in normal tissue: NRXN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NRXN1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04514 | Cell adhesion molecules (CAMs) - Homo sapiens (human) |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NRXN1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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