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Symbol NRXN1 contributors: mct - updated : 06-04-2013
HGNC name neurexin 1
HGNC id 8008
Corresponding disease
IDEM intellectual disability, epilepsy, macrocephaly
PTHS2 Pitt-Hopkins 2
Location 2p16.3      Physical location : 50.145.643 - 51.259.674
Synonym name
  • neurexin I-alpha
  • neurexin I-beta
  • Synonym symbol(s) RN1AH, KIAA0578, NX1A, FLJ35941, Hs.22998, DKFZp313P2036, PTHSL2, SCZD17
    TYPE functioning gene
    STRUCTURE 1114.03 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • CCG repeat in 5'utr
  • two promoters: one promoter for the transcription of alpha neurexin and one for beta
  • MAPPING cloned Y linked N status tentative : very preliminary evidence
    Physical map
    LOC388946 2 LOC388946 ATP6V1E2 2p21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2 ARHQ 2p21 ras homolog gene family, member Q PIGF 2p16 phosphatidylinositol glycan, class F CRIPT 2p21 phosphatidylinositol glycan, class F LOC388947 2 LOC388947 SOCS5 2p21 suppressor of cytokine signaling 5 LOC388948 2 hypothetical gene supported by BC062774 MCFD2 TTC7 2p21 tetratricopeptide repeat domain 7 FLJ40172 2p21 hypothetical protein FLJ40172 CALM2 2p21.3-p21.1 calmodulin 2 (phosphorylase kinase, delta) TACSTD1 2p21 tumor-associated calcium signal transducer 1 MSH2 2p22-p21 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) KCNK12 2p22-p21 potassium channel, subfamily K, member 12 LOC285053 2p21 similar to ribosomal protein L18a; 60S ribosomal protein L18a LOC391372 2 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) MSH6 2p16 mutS homolog 6 (E. coli) FBXO11 2p21-p16 F-box only protein 11 HTLF 2p21 human T-cell leukemia virus enhancer factor LOC129285 2p21 smooth muscle myosin heavy chain 11 isoform SM1-like SALF 2p16.3 smooth muscle myosin heavy chain 11 isoform SM1-like SBLF 2p16.3 stoned B-like factor ALF 2p16.3 stoned B-like factor LHCGR 2p21 luteinizing hormone/choriogonadotropin receptor LOC391373 2 similar to C-terminal binding protein 2 isoform 2; ribeye FSHR 2p16 follicle stimulating hormone receptor LOC339793 2p21 similar to PRO1094 LOC130728 2p21 similar to 60S ribosomal protein L7 NRXN1 2p16.3 neurexin 1 CRYGGP1 2q33-q35 crystallin, gamma G pseudogene 1 LOC129656 2p16.3 similar to MECT1 protein
    TRANSCRIPTS type messenger
  • with long and shorter both with alternatively spliced isoforms (PMID: 9448462)
  • activity-dependent alternative splicing requires the KH-domain RNA-binding protein KHDRBS1 that associates with RNA response elements in the NRXN1 pre-mRNA (PMID: 21620750)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 9578 - 1547 heart, brain 1994 8163501
    22 - 9368 - 1477 - 1994 8163501
    lacks the N terminal five LNS domains and the EGF-like repeats, the C terminus region is conserved
    6 - 5593 - 442 - -
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiensAdultNM_001135659
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain   highly Homo sapiensAdultNM_001135659
     nerve   highly
    cell lineage
    cell lines
    at STAGE
  • a N terminal signal peptide
  • three overall repeats, each composed of two similar domains LNS (laminin A/neurexin/sex hormone-binding globulin) separated from each other by an EGF-like sequence
  • an O-glycosylation site and a single TM segment
  • a short cytoplasmic tail
    interspecies homolog to rattus neurexin I alpha
    intraspecies homolog to NRXN3
  • neurexin family
  • CATEGORY adhesion , signaling , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins
  • plays an important role in synaptic development
  • have a fundamental role in synaptogenesis and synaptic maintenance
  • having an important role in synaptic function
  • polymorphic presynaptic protein implicated in synaptic plasticity and memory processing
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS nervous system
    text axon guidance
    a component
    small molecule
  • binding the potent excitatory neurotoxin alpha-latrotoxin
  • interacting with neuroligin
  • cell & other
    corresponding disease(s) PTHS2 , IDEM
  • to autism spectrum disorder, see AUTS19
  • to schizophrenia
  • to nicotine dependence (ND)
  • to autism spectrum disorder, developmental delay, and speech delay
  • Variant & Polymorphism other
  • mutation increasing the risk of nicotine dependence,
  • disrupted by rare CNVs in schizophrenia patients
  • duplicated in patients with autism spectrum disorder, developmental delay, and speech delay
  • Candidate gene
    Therapy target