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 |
|---|---|---|---|---|---|
| neurexin 1 | MIM:600565 | Ensembl:ENSG00000179915 | HGNC:HGNC:8008 | PA31786 | 2p16.3 |
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 |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0009986 | cell surface |
| CC | IEA | GO:0030054 | cell junction |
| CC | ISS | GO:0031965 | nuclear membrane |
| CC | ISS | GO:0031982 | vesicle |
| CC | IEA | GO:0032991 | protein-containing complex |
| CC | ISS | GO:0042734 | presynaptic membrane |
| CC | ISS | GO:0043025 | neuronal cell body |
| BP | TAS | GO:0007158 | neuron cell-cell adhesion |
| BP | IEA | GO:0007165 | signal transduction |
| BP | ISS | GO:0007268 | chemical synaptic transmission |
| BP | ISS | GO:0007269 | neurotransmitter secretion |
| BP | TAS | GO:0007411 | axon guidance |
| BP | ISS | GO:0007416 | synapse assembly |
| BP | IMP | GO:0007612 | learning |
| BP | IMP | GO:0030534 | adult behavior |
| BP | IMP | GO:0035176 | social behavior |
| BP | IMP | GO:0042297 | vocal learning |
| BP | IMP | GO:0050885 | neuromuscular process controlling balance |
| BP | ISS | GO:0050885 | neuromuscular process controlling balance |
| BP | ISS | GO:0051965 | positive regulation of synapse assembly |
| BP | ISS | GO:0051968 | positive regulation of synaptic transmission, glutamatergic |
| BP | IEA | GO:0060134 | prepulse inhibition |
| BP | IEA | GO:0061178 | regulation of insulin secretion involved in cellular response to glucose stimulus |
| BP | IMP | GO:0071625 | vocalization behavior |
| BP | ISS | GO:0090129 | positive regulation of synapse maturation |
| BP | ISS | GO:0097104 | postsynaptic membrane assembly |
| BP | ISS | GO:0097116 | gephyrin clustering involved in postsynaptic density assembly |
| BP | ISS | GO:0097118 | neuroligin clustering involved in postsynaptic membrane assembly |
| BP | ISS | GO:0097119 | postsynaptic density protein 95 clustering |
| BP | IEA | GO:0099560 | synaptic membrane adhesion |
| BP | ISS | GO:2000463 | positive regulation of excitatory postsynaptic potential |
| BP | IEA | GO:2000821 | regulation of grooming behavior |
| MF | ISS | GO:0005246 | calcium channel regulator activity |
| MF | ISS | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0033130 | acetylcholine receptor binding |
| MF | TAS | GO:0038023 | signaling receptor activity |
| MF | ISS | GO:0050839 | cell adhesion molecule binding |
| MF | ISS | GO:0097109 | neuroligin family protein binding |
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 |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD68 | Paclitaxel | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NRXN1
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