Property Summary

NCBI Gene PubMed Count 112
PubMed Score 117.22
PubTator Score 117.90

Knowledge Summary

Patent

No data available

Expression

Gene RIF (77)

PMID Text
26785044 NRXN1 has an affinity for binding to LRRTM2 in hippocampal synapses.
26590955 Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
26410934 The role of NRXN1 in in paranoid schizophrenia development in Russians.
26279266 heterozygous inactivation of NRXN1 directly impairs synaptic function in human neurons.
26078884 Results indicate that the neurexin and neuroligin synaptic complex is intrinsically involved in the regulation of DISC1 function, thus contributing to a better understanding of the pathology of schizophrenia.
25943950 Study suggests a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation
25710691 The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.
25486015 A further patient with a biallelic homozygous deletion in NRXN1 is reported here.
25450229 The rare variants in NRXN1 were significantly associated with smoking status.
25399301 Increasing expression of TGF-beta1 protein, decreasing expressions of Ghrelin, Neurexin, and Neuroligin proteins can induce the loss or dysfunction of ganglion cells in distal intestinal canal
25242362 study did not find any of the 4 mutations identified in patients meeting the diagnostic criteria for autism with intellectual disability in either the schizophrenia patient group or the control group despite expected genetic overlap among autism, intellectual disability and schizophrenia
24832020 Mutation screening of the NRXN1gene in patients with ID and ASD may be useful to identify potential variants predisposing to ID and ASD
24680031 This study demonistrated that NRXN1 deletions are more frequent in patients with schizophrenia than in healthy individuals.
24633560 Study provides statistically significant evidence of association of NRXN1 rs12467557 and rs10490162 with atypical antipsychotic treatment response in a placebo-controlled, in-patient treatment response study
24440292 study identified a homozygous mutation in RBBP8, which co-segregates with microcephaly-associated intellectual disability syndrome in a Pakistani family; also identified a heterozygous deletion encompassing the NRXN1 in this family, which is present in 2 affected sibs with complex phenotype and the mother with mild phenotype
24064682 These data reinforce a role for synaptic defects of NRXN1beta in neurodevelopmental disorders.
23772147 The rs10187911(NRXN1 protein) on 2p16.3 was significantly associated with lung cancer development (dominant model, OR of TG or GG, 1.58, P = 0.025).
23638761 alpha- or beta-NRXN-1 isoforms expressed under C. elegans nrx-1 promoter rescue impairment of exploratory behavior and sinusoidal postural movement in nrx-1 C elegans mutant.
23536886 based on in vitro models, NRXN1 deletions impact several biological processes during neurodevelopment, including synaptic adhesion and neuron differentiation.
23533600 The results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions
23533028 study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders
23472757 Deletions in both affected and control individuals were clustered in the 5' portion of NRXN1.
23294455 We conclude that exon-disrupting deletions of NRXN1 represent a genetic risk factor in the genetically complex predisposition of common idiopathic generalized epilepsies
23264101 Expression levels of neurexin and neuroligin in ENS are significantly down-regulated in HSCR, which may be involved in the pathogenesis of HSCR.
22948383 Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints.
22832527 In both human and mouse, NRXN1 is co-expressed with numerous cell signaling genes and known schizophrenia candidates.
22617343 Patients with exonic deletions in NRXN1 manifested intellectual disability, infantile hypotonia and ASDs.
22504536 The data reported here support a role for synaptic defects of neurexin-1beta in neurodevelopmental disorders.
22405623 This study demonistrated that there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism in Chinese Han population.
22337556 a possible gene-dose effect of NRXN1 mutations on type and severity of mental illness
22235116 Neurexin-1alpha is a component of the beta-cell secretory machinery and contributes to secretory granule docking, most likely through interactions with granuphilin.
21964664 Biallelic NRXN1 mutations result in a severe recessive mental retardation syndrome.
21890328 These results suggest that the rs1045881 NRXN1 polymorphism may influence clozapine response.
21827697 The mutational testing found a heterozygous deletion in NRXN1 in one patient.
21687627 a neural and cognitive susceptibility mechanism by which the NRXN1 gene confers risk for both schizophrenia and autism spectrum disorders
21559374 Presenilin/gamma-secretase regulates neurexin processing at synapses
21477380 findings suggest that NRXN1 might represent a major susceptibility gene for schizophrenia in Chinese Han population.
21424692 Truncating mutations in NRXN1 is associated with autism spectrum disorders and schizophrenia
21288692 The results of this study do not suggest the existence of rare, highly penetrant NRXN1 mutations in patients with schizophrenia.
20967226 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20860064 Schizophrenia patients antipsychotic response may be altered depending on the synaptic connectivity. NRXN1 deletions have also been associated with schizophrenia. observed a trend toward association of clozapine response with the rs12467557
20860064 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20543817 Results suggest that unique conformational reshaping of the neuroligin 4 surface is required to permit neurexin 1beta association.
20468056 Observational study of gene-disease association. (HuGE Navigator)
20421335 These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders.
20414139 The rs6721498 and rs2193225 of NRXN1 were genotyped in 2516 Japanese with various smoking habits.
20414139 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20347009 In addition to chromosomal alterations disrupting the NRXN1alpha promoter, rare point mutations in the region may also be involved in SZ pathogenesis.
20347009 Observational study of gene-disease association. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20162629 NRXN1 may be pathogenic in a wide variety of psychiatric diseases, including autism spectrum disorder, global developmental delay, anxiety, and depression.
20157312 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20113834 Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23).
19896112 NRXN1 is mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determines the level of a common synaptic protein in Drosophila.
19880096 Observational study of gene-disease association. (HuGE Navigator)
19736351 Observational study of gene-disease association. (HuGE Navigator)
19734545 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19675094 The findings of studies to date provide strong evidence that deletions of NRXN1 confer a substantial increase in risk of schizophrenia.
19658047 Observational study of gene-disease association. (HuGE Navigator)
19557195 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of neurexin 1 (NRXN1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19197363 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18945720 NRXN1 deletions affecting exons confer risk of schizophrenia.
18945720 Observational study of gene-disease association. (HuGE Navigator)
18940311 Observational study of gene-disease association. (HuGE Navigator)
18490107 the ultra-rare structural variants of the neurexin 1alpha gene are consistent with mutations predisposing to autism.
18490107 Observational study of gene-disease association. (HuGE Navigator)
18270208 NRXN1 gene represents a strong candidate for involvement in the etiology of nicotine dependence.
18270208 Observational study of gene-disease association. (HuGE Navigator)
18179900 A number of rare sequence variants in the coding region of the alpha-neurexin 1 leader sequence and of an epidermal growth factor like domain, respectively, suggest that even subtle changes in NRXN1 might contribute to susceptibility to autism.
17989066 Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
17158188 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
15797875 the neurexin 1beta/neuroligin 1 complex has a role in synapse formation
15684424 Results report the solution structure of AF-6 PDZ domain and its interaction with the C-terminal peptides from Neurexin and Bcr.
14522992 neurexin-1beta binds to neuroligin-1 in an interaction whose specificity depends on glycosylation, mRNA splicing and gene selection of neuroligin

AA Sequence

MYQRMLRCGAELGSPGGGGGGGGGGGAGGRLALLWIVPLTLSGLLGVAWGASSLGAHHIHHFHGSSKHHS      1 - 70
VPIAIYRSPASLRGGHAGTTYIFSKGGGQITYKWPPNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLG     71 - 140
DYLELHIHQGKIGVKFNVGTDDIAIEESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTI    141 - 210
FNSQATIIIGGKEQGQPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQS    211 - 280
EMSTSIMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTRAGGRE    281 - 350
PYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRNYISNSAQSNGAVVKE    351 - 420
KQPSSAKSSNKNKKNKDKEYYV                                                    421 - 442
//

Text Mined References (112)

PMID Year Title
26785044 2016 Crystal Structure of an Engineered LRRTM2 Synaptic Adhesion Molecule and a Model for Neurexin Binding.
26590955 2016 Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
26410934 2015 [The Role of Neurotrophins and Neurexins Genes in the Risk of Paranoid Schizophrenia in Russians and Tatars].
26279266 2015 Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.
26078884 2015 Neurexin-Neuroligin Synaptic Complex Regulates Schizophrenia-Related DISC1/Kal-7/Rac1 "Signalosome".
25943950 Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility.
25737549 2015 Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators.
25710691 2015 [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].
25486015 2015 A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.
25450229 2015 The contribution of rare and common variants in 30 genes to risk nicotine dependence.
25399301 2015 TGF-?1, Ghrelin, Neurexin, and Neuroligin are predictive biomarkers for postoperative prognosis of laparoscopic surgery in children with Hirschsprung disease.
25367360 2015 Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
25242362 2014 Genetic study of NRXN1? variants in Spanish patients with schizophrenia.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
24832020 2014 Mutation screening of the neurexin 1 gene in thai patients with intellectual disability and autism spectrum disorder.
24680031 2014 Incomplete penetrance of NRXN1 deletions in families with schizophrenia.
24633560 2014 Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia.
24440292 2014 A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.
24064682 2013 Rare variants analysis of neurexin-1? in autism reveals a novel start codon mutation affecting protein levels at synapses.
23942779 2013 A genome-wide association study of behavioral disinhibition.
23772147 2013 Genome-wide association study of lung cancer in Korean non-smoking women.
23638761 2013 Human alpha- and beta-NRXN1 isoforms rescue behavioral impairments of Caenorhabditis elegans neurexin-deficient mutants.
23536886 2013 Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models.
23533600 2013 CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
23533028 2013 Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
23495017 2013 Investigation of NRXN1 deletions: clinical and molecular characterization.
23472757 2013 Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.
23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
23294455 2013 Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
23264101 2013 Expression of neurexin and neuroligin in the enteric nervous system and their down-regulated expression levels in Hirschsprung disease.
22948383 2012 Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.
22832960 2012 A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
22832527 2011 Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes.
22617343 2012 Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
22504536 2012 Mutations affecting synaptic levels of neurexin-1? in autism and mental retardation.
22405623 2012 Mutation analysis of the NRXN1 gene in a Chinese autism cohort.
22337556 2012 Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
22235116 2012 Neurexin-1? contributes to insulin-containing secretory granule docking.
21964664 2011 Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.
21890328 2011 The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response.
21827697 2011 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
21687627 2011 Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders.
21559374 2011 Presenilin/?-secretase regulates neurexin processing at synapses.
21477380 2011 A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population.
21424692 2011 Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
21288692 2011 Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients.
20967226 2010 New copy number variations in schizophrenia.
20860064 2010 Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response.
20834067 2010 Joint influence of small-effect genetic variants on human longevity.
20691247 2010 A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
20543817 2010 Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions.
20468056 2010 Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
20421335 2010 TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
20414139 2010 Association between neurexin 1 (NRXN1) polymorphisms and the smoking behavior of elderly Japanese.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20347009 2010 Rare NRXN1 promoter variants in patients with schizophrenia.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20162629 2010 Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
20157312 2011 Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility.
20113834 2010 Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23).
19896112 2009 CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
19880096 2010 Copy number variation in schizophrenia in the Japanese population.
19822762 2009 Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments.
19736351 2009 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
19734545 2009 A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
19675094 2009 Neurexin 1 (NRXN1) deletions in schizophrenia.
19658047 2009 Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary study.
19557195 2009 Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
19197363 2009 A genome-wide investigation of SNPs and CNVs in schizophrenia.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18945720 2009 Disruption of the neurexin 1 gene is associated with schizophrenia.
18940311 2008 Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
18923512 2008 Neuroligins and neurexins link synaptic function to cognitive disease.
18812509 2008 Mutational analysis of the neurexin/neuroligin complex reveals essential and regulatory components.
18490107 2008 Neurexin 1alpha structural variants associated with autism.
18270208 2008 Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers.
18179900 2008 Disruption of neurexin 1 associated with autism spectrum disorder.
18093522 2007 Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactions.
18084303 2008 Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions.
18057082 2008 A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
17989066 2008 Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
17158188 2007 Novel genes identified in a high-density genome wide association study for nicotine dependence.
17034946 2006 High frequency of neurexin 1beta signal peptide structural variants in patients with autism.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15797875 2005 Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism.
15684424 2005 Solution structure of AF-6 PDZ domain and its interaction with the C-terminal peptides from Neurexin and Bcr.
15620359 2004 Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14522992 2003 Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta.
12827191 2003 Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
12036300 2002 Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing.
11944992 2002 Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity.
11243866 2001 Synaptotagmin-like protein 1-3: a novel family of C-terminal-type tandem C2 proteins.
11171101 2001 Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII).
11152476 2001 The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity.
11036064 2000 Mints as adaptors. Direct binding to neurexins and recruitment of munc18.
9921901 1998 CCG repeats in cDNAs from human brain.
9856994 1998 Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit.
9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
9448462 1998 Neurexins: three genes and 1001 products.
9430716 1998 Neurexin I alpha is a major alpha-latrotoxin receptor that cooperates in alpha-latrotoxin action.
8901523 1996 Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin.
8786425 1996 CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins.
8699246 1996 Structure and evolution of neurexophilin.
8576240 1996 Structures, alternative splicing, and neurexin binding of multiple neuroligins.
7736595 1995 Neuroligin 1: a splice site-specific ligand for beta-neurexins.
7695896 1995 Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.
1621094 1992 Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin.