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Neurexin 1

NRXN1, neurexin 1, neurexin Ialpha, neurexin I, neurexin 1alpha
Neurexins function in the vertebrate nervous system as cell adhesion molecules and receptors. Two neurexin genes are among the largest known in human (NRXN1 and NRXN3). By using alternate promoters, splice sites and exons, predictions of hundreds or even thousands of distinct mRNAs have been made. Most transcripts use the upstream promoter and encode alpha-neurexin isoforms; fewer transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and they interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. The RefSeq Project has decided to create only a few representative transcript variants of the multitude that are possible. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: CAN, neuroligin-1, HAD, CL1, NRXN3
Papers on NRXN1
Heterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.
New
Clapcote et al., Leeds, United Kingdom. In Behav Neurosci, Dec 2015
Human genetic studies have found heterozygous deletions affecting NRXN1 and NRXN2, encoding α-neurexin I (Nrxn1α) and α-neurexin II (Nrxn2α), in individuals with autism spectrum disorders and schizophrenia.
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
New
Patel et al., Brisbane, Australia. In Am J Med Genet A, Dec 2015
Chromosomal microarray analysis identified a de novo 0.5 Mb deletion at 2p16.3, including the first four exons of the NRXN1 gene.
CNVs in neuropsychiatric disorders.
Review
New
Kirov, Cardiff, United Kingdom. In Hum Mol Genet, Nov 2015
Over the last few years at least 11 copy number variations (CNVs) have been shown convincingly to increase risk to developing schizophrenia: deletions at 1q21.1, NRXN1, 3q29, 15q11.2,
Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders.
New
Impact
Hyman, Cambridge, United States. In Cell Stem Cell, Oct 2015
In this issue of Cell Stem Cell, Pak et al. (2015) combine gene targeting and stem cell technologies to identify a significant cellular effect of rare penetrant NRXN1 mutations in human neurons, which was found to cause a defect in neurotransmitter release.
Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.
New
Impact
Südhof et al., Stanford, United States. In Cell Stem Cell, Oct 2015
Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion molecule neurexin-1, were repeatedly associated with autism and schizophrenia.
The Acquisition of Target Dependence by Developing Rat Retinal Ganglion Cells(1,2,3).
New
Harvey et al., Perth, Australia. In Eneuro, May 2015
Prior to innervation RGCs expressed high levels of BDNF and CNTFR α but lower levels of neurexin 1 mRNA.
A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.
Willemsen et al., Pakistan. In Genet Res (camb), 2014
Upon genotyping, an ~455 kb de novo deletion encompassing the first exon of NRXN1 was found.
Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission.
Impact
Fishell et al., In Nature, 2014
For instance, Neurexin 1a and 2 (NRXN1 and NRXN2) and CNTNAP2 (also known as CASPR2), all members of the neurexin superfamily of transmembrane molecules, have been implicated in neuropsychiatric disorders.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Review
Schoumans et al., Genève, Switzerland. In Am J Med Genet B Neuropsychiatr Genet, 2013
This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all).
Copy number variations in neurodevelopmental disorders.
Review
Collier et al., London, United Kingdom. In Prog Neurobiol, 2012
More recently, rare, recurrent and often de novo pathogenic CNVs, including deletions at NRXN1, 1q21.2, 15q11.2 and 15q13.3,
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.
GeneRIF
Scholl et al., Sevilla, Spain. In Neurobiol Dis, 2012
The data reported here support a role for synaptic defects of neurexin-1beta in neurodevelopmental disorders.
Mutation analysis of the NRXN1 gene in a Chinese autism cohort.
GeneRIF
Xia et al., Changsha, China. In J Psychiatr Res, 2012
This study demonistrated that there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism in Chinese Han population.
The regulation of glial-specific splicing of Neurexin IV requires HOW and Cdk12 activity.
GeneRIF
Klämbt et al., Münster, Germany. In Development, 2012
The regulation of glial-specific splicing of Neurexin IV requires HOW and Cdk12 activity.
Neurexin-1α contributes to insulin-containing secretory granule docking.
GeneRIF
Chessler et al., San Diego, United States. In J Biol Chem, 2012
Neurexin-1alpha is a component of the beta-cell secretory machinery and contributes to secretory granule docking, most likely through interactions with granuphilin.
Recent genomic advances in schizophrenia.
Review
Owen et al., Cardiff, United Kingdom. In Clin Genet, 2012
There is evidence both for an increased burden of large, rare CNVs in schizophrenia and that risk is conferred by a number of specific large CNVs as well as by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1.
Sex-dependent novelty response in neurexin-1α mutant mice.
GeneRIF
Kas et al., Utrecht, Netherlands. In Plos One, 2011
behavioral manifestations caused by NRXN1alpha gene mutations; gender-specific mechanisms play an important role in Nrxn1alpha-induced phenotypes.
Detection and characterization of copy number variation in autism spectrum disorder.
Review
Scherer et al., Toronto, Canada. In Methods Mol Biol, 2011
This strategy has proven largely successful in identifying ASD-susceptibility candidate loci, including gains and losses at 16p11.2, SHANK2, NRXN1, and PTCHD1.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Impact
Hakonarson et al., Philadelphia, United States. In Nature, 2009
Besides previously reported ASD candidate genes, such as NRXN1 (ref.
Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin.
Impact
Südhof et al., Dallas, United States. In Science, 1992
An antibody to neurexin I showed highly concentrated immunoreactivity at the synapse.
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