NRXN1 - neurexin 1 Gene

Also Known as PTHSL2; SCZD17; Hs.22998

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9378

About NRXN1

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:49,918,503-51,032,132 (from NCBI)

This gene has 65 transcripts (splice variants), 238 orthologues, 35 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 12.7) and testis (RPKM 0.6).

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]

NRXN1 Products (25)

mRNA	Protein	Name
NM_001135659.3	NP_001129131.1	neurexin-1 isoform alpha2 precursor
NM_001320156.4	NP_001307085.1	neurexin-1 isoform gamma1
NM_001320157.4	NP_001307086.1	neurexin-1 isoform gamma2
NM_001330077.2	NP_001317006.1	neurexin-1 isoform alpha3 precursor
NM_001330078.2	NP_001317007.1	neurexin-1 isoform alpha4 precursor
NM_001330079.2	NP_001317008.1	neurexin-1 isoform 6 precursor
NM_001330081.2	NP_001317010.1	neurexin-1 isoform 7 precursor
NM_001330082.2	NP_001317011.1	neurexin-1 isoform alpha5 precursor
NM_001330083.2	NP_001317012.1	neurexin-1 isoform alpha6 precursor
NM_001330084.2	NP_001317013.1	neurexin-1 isoform alpha7 precursor
NM_001330085.2	NP_001317014.1	neurexin-1 isoform alpha8 precursor
NM_001330086.2	NP_001317015.1	neurexin-1 isoform alpha9 precursor
NM_001330087.2	NP_001317016.1	neurexin-1 isoform alpha10 precursor
NM_001330088.2	NP_001317017.1	neurexin-1 isoform alpha11 precursor
NM_001330089.2	NP_001317018.1	neurexin-1 isoform 8 precursor
NM_001330090.2	NP_001317019.1	neurexin-1 isoform 9 precursor
NM_001330091.2	NP_001317020.1	neurexin-1 isoform beta2
NM_001330092.2	NP_001317021.1	neurexin-1 isoform beta3
NM_001330093.2	NP_001317022.1	neurexin-1 isoform alpha12 precursor
NM_001330094.2	NP_001317023.1	neurexin-1 isoform alpha13 precursor
NM_001330095.2	NP_001317024.1	neurexin-1 isoform alpha14 precursor
NM_001330096.2	NP_001317025.1	neurexin-1 isoform alpha15 precursor
NM_001330097.2	NP_001317026.1	neurexin-1 isoform beta4
NM_004801.6	NP_004792.1	neurexin-1 isoform alpha1 precursor
NM_138735.5	NP_620072.1	neurexin-1 isoform beta1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11152476	GOA
enables type 1 fibroblast growth factor receptor binding	IDA IDA: Inferred from direct assay	22750515	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in adult behavior	IMP IMP: Inferred from mutant phenotype	17034946	GOA
involved in learning	IMP IMP: Inferred from mutant phenotype	17034946	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	26078884	GOA
NOT involved in neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	19896112	GOA
involved in neuron projection development	IGI IGI: Inferred from genetic interaction	22750515	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	22750515	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	26078884	GOA
involved in positive regulation of protein kinase A signaling	IDA IDA: Inferred from direct assay	26078884	GOA
involved in social behavior	IMP IMP: Inferred from mutant phenotype	17034946	GOA
involved in vocal learning	IMP IMP: Inferred from mutant phenotype	19896112	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	17034946	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cell surface	IDA IDA: Inferred from direct assay	21424692	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NRXN1 Protein Structure

Laminin_G_2

Syndecan

0
300
600
900
1200
1477 a.a.

Protein Preferred Names	Protein Names
neurexin-1	neurexin I

Related Diseases

Diseases	Alias
Chromosome 2p16.3 Deletion Syndrome	Schizophrenia 17 Schizophrenia, Susceptibility To, 17 SCZD17 Schizophrenia Susceptibility Locus Chromosome 2p16-Related Schizophrenia, Type 17
Pitt-Hopkins-Like Syndrome 2	PTHSL2 Mesh D006985 Mesh D008607
Hyperopia, High
Nrxn1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Pitt-Hopkins-Like Syndrome
Pitt-Hopkins Syndrome	PTHS Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea Pitt Hopkins Syndrome Phs Encephalopathy Severe Epileptic With Autonomic Dysfunction
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Pitt-Hopkins-Like Syndrome 1	Cortical Dysplasia-Focal Epilepsy Syndrome CDFES PTHSL1 Cdfe Syndrome Pitt-Hopkins Like Syndrome 1 Pitt-Hopkins-Like Syndrome-1 Cntnap2-Related Developmental And Epileptic Encephalopathy Cntnap2-Related Dee Mesh D006985 Mesh D008607
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Schizoaffective Disorder	Schizo-Affective Psychosis Schizo-Affective Type Schizophrenia Schizoaffective Psychosis Schizoaffective Schizophrenia Schizophrenia, Schizo-Affective Type Schizophreniform Psychosis, Affective Type
Astigmatism
Tic Disorder	Tics Behavioral Tic
Childhood Disintegrative Disease	Childhood Disintegrative Disorder Disintegrative Psychosis Heller'S Syndrome Symbiotic Psychosis Dementia Infantilis Heller Syndrome Shared Paranoid Disorder
Tardive Dyskinesia	Drug-Induced Tardive Dyskinesia Lingual-Facial-Buccal Dyskinesia Neuroleptic-Induced Tardive Dyskinesia
Echolalia
Schizophrenia 18	SCZD18 Schizophrenia 18 With Or Without An Affective Disorder Schizophrenia Susceptibility 18 Chromosome 7q36.3 Duplication Syndrome, 362-Kb Schizophrenia, Type 18
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Kleefstra Syndrome 2	KLEFS2 Kleefstra Syndrome, Type 2
Syndromic X-Linked Intellectual Disability Najm Type	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Micpch X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome
Specific Developmental Disorder
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Atypical Autism	Pdd
Non-Syndromic X-Linked Intellectual Disability 91	Mrx91
Constipation
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Chronic Tic Disorder	Chronic Motor Or Vocal Tic Disorder Tic Disorders Tic Disorder Tic Disorder Nos Tic Nos Tic Spasm Nos
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Schizophreniform Disorder	Schizophreniform Disorders Psychotic Disorders
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
Specific Language Impairment	Language Impairment, Specific
Chromosomal Deletion Syndrome
Potocki-Lupski Syndrome	PTLS Chromosome 17p11.2 Duplication Syndrome 17p11.2 Microduplication Syndrome Duplication 17p11.2 Syndrome Trisomy 17p11.2 Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2)) 17p11.2 Duplication Syndrome Dup(17)(P11.2p11.2) Pls Chromosome 17, Trisomy 17p11 2
Disease Of Mental Health	Mental Health Mental Disorders
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Speech Disorder	Speech Disorders
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Stereotypic Movement Disorder	Stereotypy Habit Disorder Stereotyped Repetitive Movements Stereotyped Disorder Stereotypes Nos Stereotype Habit Disorder
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Syndromic Intellectual Disability
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS09583	NRXN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21669	Nrxn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28187	Nrxn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NRXN1	MGD	MGI:1096391
Canis familiaris	NRXN1	VGNC	VGNC:108210
Macaca mulatta	NRXN1	VGNC	VGNC:106190
Rattus norvegicus	NRXN1	RGD	RGD:628659
Others	NRXN1	NCBI