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FLASH GENE
Symbol NLGN1 contributors: mct/pgu - updated : 30-12-2020
HGNC name neuroligin 1
HGNC id 14291
Location 3q26.31      Physical location : 173.116.243 - 174.001.116
Synonym name rat neuroligin 1 homolog
Synonym symbol(s) KIAA1070, MGC45115, NL1
DNA
TYPE functioning gene
STRUCTURE 898.44 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 16674 - 823 - 2000 10892652
7 - 16665 - 843 - 2000 10892652
7 - 16665 - 843 - 2000 10892652
6 - 16605 - 823 - 2000 10892652
6 - 16578 - 814 - 2000 10892652
6 - 16137 - 823 - 2000 10892652
7 - 16241 - 843 - 2000 10892652
7 - 16665 - 843 - 2000 10892652
4 - 16522 - 843 - 2000 10892652
7 - 16522 - 843 - 2000 10892652
6 - 16181 - 823 - 2000 10892652
6 - 16462 - 823 - 2000 10892652
6 - 16435 - 814 - 2000 10892652
6 - 16154 - 814 - 2000 10892652
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain   highly
Reproductivefemale systemovary  lowly
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Nervouscentral   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain lowly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminal specific interaction with the GOPC PDZ domain
  • extracellular domain sufficient to induce assembly of functional presynaptic terminals, while the intracellular domain was required for terminal maturation
  • HOMOLOGY
    interspecies homolog to rattus neuroligin 1
    Homologene
    FAMILY
  • neuroligin (Nlgn) family of postsynaptic transmembrane proteins
  • type-B carboxylesterase/lipase family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    text post synaptic
    basic FUNCTION
  • mediating cell to cell interactions between neurons
  • triggering presynaptic development in contacting axon
  • induces apparent synapse formation by binding to presynaptic alpha-neurexins
  • essential role for presynaptic terminal maturation
  • also involved in critically controls key steps of presynaptic bouton maturation
  • performs diverse synaptic functions by mechanisms that include as essential components of alpha-neurexin binding and neuroligin dimerization, but extend beyond these activities
  • with CDH2, cooperate to control vesicle clustering at nascent synapses
  • postsynaptic adhesion protein that control the maturation and function of synapses in the central nervous system (CNS)
  • NLGN1 and NLGN2 are essential for excitatory and inhibitory synaptic functions
  • postsynaptic cell-adhesion protein specific for excitatory synapses, which shares a high degree of similarity with acetylcholinesterase
  • acts as a nucleating factor during the APP aggregation process, stimulating the formation of APP oligomers
  • cell adhesion molecule, that is critical for the formation and consolidation of synaptic connectivity and is involved in vascular development
  • NLGN1 and NLGN2 having a role in memory consolidation and strengthening
  • postsynaptic adhesion molecule involved in the regulation of glutamatergic transmission
  • differences in the properties of the synaptogenic activities of NLGN1 and LRRTM2, although both transsynaptically interact with presynaptic neurexins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text formation and remodeling of central nervous system synapses
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • beta neurexins
  • interacting with GOPC (GOPC interacts with many other proteins, such as the Wnt receptors Frizzled 8 and neuroligin via its PDZ domain)
  • cooperation of CDH2 and NLGN1 via the postsynaptic scaffolding web is required to transsynaptically induce presynaptic vesicle clustering
  • postsynaptic cell adhesion molecule that is important for synaptic function through their trans-synaptic interaction with neurexins
  • induces blood vessel maturation by cooperating with ITGA6
  • CDH2 promotes neurite branching and it is required for three synaptic organizers, NLGN1, leucine-rich repeat transmembrane protein 2 (LRRTM2), and CADM1 to stimulate presynaptic differentiation
  • NLGN1 mediates transsynaptic binding with neurexin, a presynaptic cell adhesion molecule, and also binds to DLG4
  • cell & other
    REGULATION
    Phosphorylated by CAMK2B (robustly phosphorylates the intracellular domain of NLGN1)
    Other regulation of the NLGN1 gene by CLOCK transcription factors
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    in Alzheimer disease, and in hippocampal neurons, the p.Thr271fs mutation abolishes the ability of NLGN1 to promote the formation of glutamatergic synapses
    Susceptibility to autism spectrum disorder (ASD)
    Variant & Polymorphism other
  • NLGN1 Pro89Leu (P89L) missense variant associated with ASD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS