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NRXN1 Gene

protein-coding   GIFtS: 67
GCID: GC02M050145

Neurexin 1

  See NRXN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section


Aliases
Neurexin 11 2     KIAA05783
PTHSL22 5     Neurexin-1-alpha3
SCZD172 5     Neurexin I-Alpha3
Neurexin I2     Neurexin I-Beta3
neurexin-1-beta2     

External Ids:    HGNC: 80081   Entrez Gene: 93782   Ensembl: ENSG000001799157   OMIM: 6005655   UniProtKB: Q9ULB13   
UniProtKB: P584003   

Export aliases for NRXN1 gene to outside databases

Previous GC identifers: GC02M050188 GC02M050326 GC02M050122 GC02M050059 GC02M050000 GC02M049879


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section


Entrez Gene summary for NRXN1 Gene:
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)

GeneCards Summary for NRXN1 Gene:
NRXN1 (neurexin 1) is a protein-coding gene. Diseases associated with NRXN1 include pitt-hopkins-like syndrome, and pitt-hopkins-like syndrome 2. GO annotations related to this gene include calcium-dependent protein binding and receptor binding. An important paralog of this gene is CNTNAP1.

UniProtKB/Swiss-Prot: NRX1B_HUMAN, P58400
Function: 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 (By similarity)

Gene Wiki entry for NRXN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NRXN1 gene promoter:
         E2F-4   E2F-3a   NF-1   E2F-5   LHX3b/Lhx3b   E2F-2   POU3F2   E2F   E2F-1   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNRXN1 promoter sequence
   Search Chromatin IP Primers for NRXN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NRXN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16.3   Ensembl cytogenetic band:  2p16.3   HGNC cytogenetic band: 2p16.3

NRXN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NRXN1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M050145:  view genomic region     (about GC identifiers)

Start:
50,145,643 bp from pter      End:
51,259,674 bp from pter
Size:
1,114,032 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section


UniProtKB/Swiss-Prot: NRX1A_HUMAN, Q9ULB1 (See protein sequence)
Recommended Name: Neurexin-1 precursor  
Size: 1477 amino acids; 161883 Da
Subunit: Interacts (via laminin G-like domain 2 and/or laminin G-like domain 6) with NLGN1 forming a
heterotetramer, where one NLGN1 dimer interacts with one NRXN1 dimer. Interacts (via laminin G-like domain 2
and/or laminin G-like domain 6) with NLGN1, NLGN2, NLGN3, NLGN4X and NLGN4Y; these interactions are
calcium-dependent. Interacts (via laminin G-like domain 2) with NXPH1 and NXPH3. Interacts with CBLN1, CBLN2 and,
less avidly, with CBLN4 (By similarity). Interacts with LRRTM1, LRRTM2, LRRTM3 and LRRTM4 (By similarity).
Alpha-type isoforms (neurexin-1-alpha) interact (via laminin G-like domain 2 and/or laminin G-like domain 6) with
DAG1 (via alpha-dystroglycan chain). Alpha-type isoforms interact with alpha-latrotoxin from spider venom. The
cytoplasmic C-terminal region binds to CASK, CASKIN1 and APBA1. Interacts with SYT13 and SYTL1 (By similarity)
Sequence caution: Sequence=BAA25504.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A7KRL9 O60323 Q53TJ9 Q53TQ1 Q9C079 Q9C080 Q9C081 Q9H3M2 Q9UDM6
Alternative promoter usage, Alternative splicing: 4 isoforms:  Q9ULB1-1   Q9ULB1-2   Q9ULB1-3   P58400-1   (Produced by alternative splicing)

UniProtKB/Swiss-Prot: NRX1B_HUMAN, P58400 (See protein sequence)

Recommended Name: Neurexin-1-beta precursor  
Size: 442 amino acids; 46861 Da
Subunit: The cytoplasmic C-terminal region binds to CASK. Isoforms Beta 4b bind neuroligins NLGN1, NLGN2 and
NLGN3, alpha-dystroglycan and alpha-latrotoxin. Binding to neuroligins is calcium-dependent, and the binding
preference ranks as follow: NLGN1 > NLGN4 >> NLGN3 > NLGN2 (By similarity). Interacts with CBLN1, CBLN2 and more
weakly with CBLN4. CBLN1-binding is calcium-independent (By similarity)
Sequence caution: Sequence=AF064842; Type=Frameshift; Positions=54;
1 PDB 3D structure from and Proteopedia for NRXN1:
3B3Q (3D)    
Alternative promoter usage, Alternative splicing: 4 isoforms:  P58400-1   Q9ULB1-1   Q9ULB1-2   Q9ULB1-3   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for NRXN1: NX_P58400

Explore proteomics data for NRXN1 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • O-glycosylated (By similarity)1
  • Highly O-glycosylated and minor N-glycosylated (By similarity)1
  • Glycosylation2 at Asn188
  • Modification sites at PhosphoSitePlus

  • See NRXN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129131.1  NP_004792.1  NP_620072.1  

    ENSEMBL proteins: 
     ENSP00000341184   ENSP00000396738   ENSP00000367510   ENSP00000385580   ENSP00000385142  
     ENSP00000384311   ENSP00000434015   ENSP00000385017   ENSP00000385310   ENSP00000385434  
     ENSP00000385681  
    Reactome Protein details: Q9ULB1

    NRXN1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NRXN1
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    Novus Biologicals NRXN1 Protein
    Novus Biologicals NRXN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NRXN1

     
    Search eBioscience for Proteins for NRXN1 

     
    Search GeneTex for Proteins for NRXN1 

     
    antibodies-online proteins for NRXN1 (3 products) 

     
    antibodies-online peptides for NRXN1

    NRXN1 Antibody Products:

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    Abcam antibodies for NRXN1 (Q9ULB1, P58400)
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    ThermoFisher Antibodies for NRXN1
    antibodies-online antibodies for NRXN1 (58 products) 

    NRXN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    antibodies-online kits for NRXN1 (15 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    Selected InterPro protein domains (see all 8):
     IPR003585 Neurexin-like
     IPR027158 NRXN1_fam
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G

    Graphical View of Domain Structure for InterPro Entry Q9ULB1
    Graphical View of Domain Structure for InterPro Entry P58400

    ProtoNet protein and cluster: Q9ULB1

    3 Blocks protein domains:
    IPB001791 Laminin G
    IPB003585 Neurexin/syndecan/glycophorin C
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: NRX1A_HUMAN, Q9ULB1
    Similarity: Belongs to the neurexin family
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 6 laminin G-like domains

    UniProtKB/Swiss-Prot: NRX1B_HUMAN, P58400
    Similarity: Belongs to the neurexin family
    Similarity: Contains 1 laminin G-like domain


    Find genes that share domains with NRXN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NRX1A_HUMAN, Q9ULB1
    Function: 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 (By similarity)

         UniProtKB/Swiss-Prot: NRX1B_HUMAN, P58400
    Function: 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 (By similarity)

         Genatlas biochemistry entry for NRXN1:
    rat neurexin I alpha homolog longer form cell-surface protein,also coding for the shorter beta neurexin I
    form,both with multiple alternatively spliced isoforms and a CCG repeat in 5'utr,binding the potent excitatory
    neurotoxin alpha-latrotoxin,potentially involved in neuronal cell adhesion and intercellular signaling

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS1621094
    GO:0005102receptor binding ISS--
    GO:0005246calcium channel regulator activity ISS--
    GO:0005509calcium ion binding ISS--
    GO:0005515protein binding IPI11152476
         
    Find genes that share ontologies with NRXN1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for NRXN1:
     Decreased Salmonella enterica   Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nrxn1):
     behavior/neurological  mortality/aging  nervous system  normal  respiratory system 

    Find genes that share phenotypes with NRXN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nrxn1tm1Sud for NRXN1

       genOway: Develop your customized and physiologically relevant rodent model for NRXN1

        Search Taconic Biosciences for animal models for NRXN1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target NRXN1:
    hsa-mir-16-5p (MIRT051233), hsa-mir-196a-5p (MIRT048156)

    Block miRNA regulation of human, mouse, rat NRXN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NRXN1 (see all 77):
    hsa-miR-411* hsa-miR-548j hsa-miR-3938 hsa-miR-300 hsa-miR-485-3p hsa-miR-200a hsa-miR-3653 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidNRXN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NRXN1
    Predesigned siRNA for gene silencing in human, mouse, rat NRXN1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRXN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    NRX1A_HUMAN, Q9ULB1: Cell membrane; Single-pass type I membrane protein (Probable). Cell junction, synapse
    (Probable). Note=Localized on the pre-synaptic membrane (By similarity)
    NRX1B_HUMAN, P58400: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Note=Localized
    on the pre-synaptic membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ISS--
    GO:0005887integral component of plasma membrane TAS1621094
    GO:0009986cell surface ISS--
    GO:0016021integral component of membrane IEA--
    GO:0030054cell junction IEA--

    Find genes that share ontologies with NRXN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for NRXN1 About    
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    3Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    4Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)


    Find genes that share SuperPaths with NRXN1           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NRXN1
        Muscular Dystrophies and Dystrophin-Glycoprotein Complex

    1 Reactome Pathway for NRXN1
        Non-integrin membrane-ECM interactions


    1 Kegg Pathway  (Kegg details for NRXN1):
        Cell adhesion molecules (CAMs)

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NRXN1
    Interactions:

        Search GeneGlobe Interaction Network for NRXN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NRXN1 (P584003 ENSP000003851424) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NLGN1ENSP000003545414STRING: ENSP00000354541
    NLGN3ENSP000003631634STRING: ENSP00000363163
    NLGN4YENSP000003425354STRING: ENSP00000342535
    APBA1ENSP000002653814STRING: ENSP00000265381
    CASKENSP000003674084STRING: ENSP00000367408
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis ISS--
    GO:0007155cell adhesion ----
    GO:0007157heterophilic cell-cell adhesion ISS--
    GO:0007158neuron cell-cell adhesion TAS15797875
    GO:0007268synaptic transmission ISS--

    Find genes that share ontologies with NRXN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NRXN1 (NRX1B)

    2 Novoseek inferred chemical compound relationships for NRXN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-latrotoxin 80.1 3 9208860 (2)
    tyrosine 0 1 11578868 (1)



    Find genes that share compounds with NRXN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for NRXN1 gene (17 alternative transcripts): 
    NM_001135659.1  NM_004801.4  NM_138735.2  XM_005264642.1  XM_005264643.1  XM_006712133.1  XM_006712134.1  XM_006712135.1  
    XM_006712136.1  XM_006712137.1  XM_006712138.1  XM_006712139.1  XM_006712140.1  XM_006712141.1  XM_006712142.1  XM_006712143.1  
    XM_006712144.1  

    Unigene Cluster for NRXN1:

    Neurexin 1
    Hs.637685  [show with all ESTs]
    Unigene Representative Sequence: NM_001135659
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342183(uc002rxa.4 uc010yon.2 uc010fbp.3) ENST00000484192
    ENST00000412315 ENST00000378262 ENST00000401710 ENST00000404971(uc002rxb.4 uc021vhg.1 uc021vhi.1)
    ENST00000406316(uc021vhh.1 uc021vhj.1) ENST00000405472 ENST00000401669
    ENST00000331040(uc002rxc.1) ENST00000474354 ENST00000462791 ENST00000495871
    ENST00000405581(uc021vhk.1) ENST00000496792 ENST00000402717 ENST00000406859

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    hsa-miR-411* hsa-miR-548j hsa-miR-3938 hsa-miR-300 hsa-miR-485-3p hsa-miR-200a hsa-miR-3653 hsa-miR-138-2*
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      QuantiTect SYBR Green Assays in human, mouse, rat NRXN1
      QuantiFast Probe-based Assays in human, mouse, rat NRXN1

    Additional mRNA sequence: 

    AB011150.2 AB035356.1 AF064842.1 AF087975.1 AK093260.1 AK124726.1 AK295773.1 BC046631.1 
    BC125179.1 BC125180.1 BC150247.1 BX647616.1 EF539882.1 

    14 DOTS entries:

    DT.453570  DT.101968714  DT.91762027  DT.95130521  DT.100785324  DT.97836711  DT.100022437  DT.91762024 
    DT.40128777  DT.120947549  DT.91762026  DT.100733011  DT.120947662  DT.70101175 

    Selected AceView cDNA sequences (see all 54):

    AW014944 BQ878107 AI494432 AW593874 AW002904 BE796798 AK093260 BX113737 
    AI571386 AW236443 BV202460 F05095 AI376831 BX460498 BV202463 BI754520 
    BI823512 BX389428 D61514 BG211389 BX478452 BP361151 BI916001 BX331957 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NRXN1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f
    SP1:                                      -     -     -           -                                       
    SP2:                          -           -     -     -                                                   
    SP3:                          -           -     -     -           -                                       
    SP4:                                            -     -                                                   
    SP5:                                                              -                                       


    ECgene alternative splicing isoforms for NRXN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NRXN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGTGTTG
    NRXN1 Expression
    About this image


    NRXN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Oligodendrocytes (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    NRXN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NRXN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.637685

    UniProtKB/Swiss-Prot: NRX1A_HUMAN, Q9ULB1
    Tissue specificity: Brain


        Custom PCR Arrays for NRXN1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section


    This gene was present in the common ancestor of animals.

    Orthologs for NRXN1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nrxn11 , 5 neurexin I1, 5 92.04(n)1
    99.27(a)1
      17 (59.73 cM)5
    181891  NM_020252.31  NP_064648.31 
     900336445 
    chicken
    (Gallus gallus)
    Aves NRXN11 neurexin 1 84.96(n)
    94.48(a)
      395398  NM_001198975.1  NP_001185904.1 
    lizard
    (Anolis carolinensis)
    Reptilia NRXN16
    neurexin 1
    97(a)
    1 ↔ 1
    1(261027766-261244053)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nrxn11 neurexin 1 79.64(n)
    91(a)
      100127647  XM_002935382.2  XP_002935428.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195332 Transcribed sequence with weak similarity to protein more 80.7(n)    AL914040.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nrx-13   -- 36(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea C29A12.43
    nrx-11
    neurexin I like3
    nrx-11
    27(a)3
    44.29(n)1
    31.7(a)1
      V(10827618-10849015)3
    1795031  NM_001129396.21  NP_001122868.21 


    ENSEMBL Gene Tree for NRXN1 (if available)
    TreeFam Gene Tree for NRXN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for NRXN1 gene
    CNTNAP12  ENSG000002360292  NRXN32  CNTNAP52  CNTNAP3B2  NRXN22  CNTNAP32  CNTNAP22  
    CNTNAP42  
    6 SIMAP similar genes for NRXN1 using alignment to 13 protein entries:     NRX1A_HUMAN (see all proteins):
    DKFZp313P2036    NRXN2    KIAA0921    NRXN3    F9    EGFLAM

    Find genes that share paralogs with NRXN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section


    Selected SNPs for NRXN1 (see all 24842)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429455161,2
    C--49886401(+) TTGTT-/AAAA  
            
    AAGAT
    3 -- int10--------
    rs107116631,2
    C--49894213(+) AGAAA-/CCATGA 3 -- int11Minor allele frequency- C:0.00NA 2
    rs2010819011,2
    C--49939406(+) GGCCAA/CANNNN 3 -- int10--------
    rs1391163541,2
    C--49940179(+) AGAAG-/CCTTG 
    AGTATTCT
    CCTTT
    3 -- int10--------
    rs567534961,2
    C--49940183(+) GCCTT-/GAGTA 
    TTCTCCTT
    TCAGA
    3 -- int10--------
    rs58310641,2
    C--49943176(+) AAAAA-/CACACA 3 -- int10--------
    rs1405140651,2
    C--49944708(+) AAAAA-/GATTAG 3 -- int10--------
    rs351783101,2
    C,F--49956439(+) CTGCAG/ATCCAG 3 -- int16Minor allele frequency- A:0.25NA WA 12
    rs1131146481,2
    C,F--49956442(+) CAATCC/AAGCCT 3 -- int13Minor allele frequency- A:0.50WA NA 6
    rs1134809401,2
    C,F--49956449(+) GCCTGC/AGCGAC 3 -- int14Minor allele frequency- A:0.29WA NA CSA 7

    HapMap Linkage Disequilibrium report for NRXN1 (50145643 - 50395643 bp, first 250kb of NRXN1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NRXN1 (see all 75):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673826CNV Deletion23128226
    esv2720047CNV Deletion23290073
    esv2676871CNV Deletion23128226
    esv2720048CNV Deletion23290073
    esv2720049CNV Deletion23290073
    esv2670635CNV Deletion23128226
    esv2676848CNV Deletion23128226
    esv2673816CNV Deletion23128226
    esv2661557CNV Deletion23128226
    esv2720044CNV Deletion23290073

    Human Gene Mutation Database (HGMD): NRXN1
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing NRXN1:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing NRXN1
    DNA2.0 Custom Variant and Variant Library Synthesis for NRXN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 600565   
    OMIM disorders: 614325  614332  
    6 diseases for NRXN1:    
    About MalaCards
    pitt-hopkins-like syndrome    pitt-hopkins-like syndrome 2    schizophrenia 17    pitt-hopkins syndrome
    schizophrenia    cortical dysplasia-focal epilepsy syndrome

    5 inferred disease relationships from the University of Copenhagen DISEASES database for NRXN1:
    Autistic disorder     Schizophrenia     Intellectual disability     Nicotine dependence
    Asperger syndrome

    Find genes that share disorders with NRXN1           About GenesLikeMe

    1 Novoseek inferred disease relationship for NRXN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 2.74 1 18945720 (4), 20347009 (2), 19675094 (1), 20468056 (1) (see all 7)

    Genetic Association Database (GAD): NRXN1
    Human Genome Epidemiology (HuGE) Navigator: NRXN1 (25 documents)

    Export disorders for NRXN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section


    PubMed articles for NRXN1 gene, integrated from 10 sources (see all 111):
    (articles sorted by number of sources associating them with NRXN1)

    1. Association between neurexin 1 (NRXN1) polymorphisms and the smoking behavior of elderly Japanese. (PubMed id 20414139)1, 4, 9 Sato N....Sugimura H. (Psychiatr. Genet. 2010)
    2. Disruption of the neurexin 1 gene is associated with schizophrenia. (PubMed id 18945720)1, 4, 9 Rujescu D....Collier D.A. (Hum. Mol. Genet. 2009)
    3. Copy number variation in schizophrenia in the Japanese population. (PubMed id 19880096)1, 4, 9 Ikeda M....Iwata N. (Biol. Psychiatry 2010)
    4. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. (PubMed id 20468056)1, 4, 9 Ching M.S....Wu B.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. Association of a polymorphism in the NRXN3 gene with the degree of smoking in schizophrenia: a preliminary study. (PubMed id 19658047)1, 4, 9 Novak G....Le Foll B. (World J. Biol. Psychiatry 2009)
    6. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    7. New copy number variations in schizophrenia. (PubMed id 20967226)1, 4 Magri C....Barlati S. (PLoS ONE 2010)
    8. A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality. (PubMed id 20691247)1, 4 Verweij K.J....Wray N.R. (Biol Psychol 2010)
    9. Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9378 HGNC: 8008 AceView: NRXN1.1 Ensembl:ENSG00000179915 euGenes: HUgn9378
    ECgene: NRXN1 Kegg: 9378 H-InvDB: NRXN1

    (According to HUGE)
    About This Section
    HUGE: KIAA0578

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NRXN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NRXN1 gene:
    Search GeneIP for patents involving NRXN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section


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