Summary of NRXN1
This gene encodes a membrane protein that belongs to the neurexin family. It is required for neurotransmission, and is involved in the formation of synaptic contacts (R).
The Function of NRXN1
Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis.
Protein names
Recommended name:
Neurexin-1Alternative name(s):
Neurexin I-alphaNeurexin-1-alpha
- RS1014667 (NRXN1) ??
- RS10176705 (NRXN1) ??
- RS10490162 (NRXN1) ??
- RS11681792 (NRXN1) ??
- RS12467557 (NRXN1) ??
- RS1356888 (NRXN1) ??
- RS17041183 (NRXN1) ??
- RS2024513 (NRXN1) ??
- RS2193225 (NRXN1) ??
- RS2193412 (NRXN1) ??
- RS2303298 (NRXN1) ??
- RS6750634 (NRXN1) ??
- RS6754640 (NRXN1) ??
To see your genotype, you should be logged in and have a file with your genotype uploaded.
Top Gene-Substance Interactions
NRXN1 Interacts with These Diseases
| Disease | Score |
Substances That Increase NRXN1
| Substances | Interaction | Organism | Category |
Substances That Decrease NRXN1
| Substances | Interaction | Organism | Category |
Advanced Summary
Covered on Genetics Home Reference: schizophreniaFrom NCBI Gene: Schizophrenia 17Pitt-Hopkins-like syndrome 2
From NCBI Gene: 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] From UniProt: NRX1A_HUMAN: Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom. From UniProt: NRX1B_HUMAN: Neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins. May play a role in formation or maintenance of synaptic junctions. May mediate intracellular signaling. May play a role in angiogenesis.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Technical
The following transcription factors affect gene expression:
Tissue specificity:
Brain.
Gene Pathways:
Molecular Function:
- Calcium-Dependent Protein Binding
- Cell Adhesion Molecule Binding
- Metal Ion Binding
- Neuroligin Family Protein Binding
- Receptor Binding
- Transmembrane Signaling Receptor Activity
- Acetylcholine Receptor Binding
- Calcium Channel Regulator Activity
- Calcium Ion Binding
- Receptor Activity
Biological Processes:
- Adult Behavior
- Angiogenesis
- Calcium-Dependent Cell-Cell Adhesion Via Plasma Membrane Cell Adhesion Molecules
- Cerebellar Granule Cell Differentiation
- Establishment Of Protein Localization
- Gamma-Aminobutyric Acid Receptor Clustering
- Gephyrin Clustering Involved In Postsynaptic Density Assembly
- Guanylate Kinase-Associated Protein Clustering
- Heterophilic Cell-Cell Adhesion Via Plasma Membrane Cell Adhesion Molecules
- Learning
- Negative Regulation Of Filopodium Assembly
- Neuroligin Clustering Involved In Postsynaptic Membrane Assembly
- Neuronal Signal Transduction
- Neuron Cell-Cell Adhesion
- Nmda Glutamate Receptor Clustering
- Positive Regulation Of Establishment Of Protein Localization To Plasma Membrane
- Positive Regulation Of Excitatory Postsynaptic Potential
- Positive Regulation Of Presynaptic Active Zone Assembly
- Positive Regulation Of Synapse Assembly
- Positive Regulation Of Synaptic Transmission, Glutamatergic
- Postsynaptic Density Protein 95 Clustering
- Postsynaptic Membrane Assembly
- Presynaptic Membrane Assembly
- Protein Complex Assembly Involved In Synapse Maturation
- Protein Localization To Synapse
- Receptor Localization To Synapse
- Regulation Of Alpha-Amino-3-Hydroxy-5-Methyl-4-Isoxazole Propionate Selective Glutamate Receptor Activity
- Regulation Of N-Methyl-D-Aspartate Selective Glutamate Receptor Activity
- Signal Transduction
- Social Behavior
- Synapse Assembly
- Synaptic Vesicle Clustering
- Vocalization Behavior
- Axon Guidance
- Chemical Synaptic Transmission
- Neuromuscular Process Controlling Balance
- Neurotransmitter Secretion
- Positive Regulation Of Synapse Maturation
- Prepulse Inhibition
- Regulation Of Grooming Behavior
- Regulation Of Insulin Secretion Involved In Cellular Response To Glucose Stimulus
- Vocal Learning