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Family Report for: Neuroligin

Neuroligin



Relationship
Family Neuroligin
Block C
Parent Family : Non-catalytic_C

Comment
Neuroligins constitute a family of proteins thought to mediate cell-to-cell interactions between neurons. Neuroligins function as ligands for the neurexin family and MADD-4. This interaction is necessary for GABA receptors clustering. Mammals have four Nlgn proteins, with the Nlgn3 and Nlgn4 gene in humans localised to the X-chromosome. In humans, the Nlgn4 gene is complemented on the Y-chromosome by a similar Nlgn4Y gene.(from OMIM) In 2 brothers with autism, one with typical autism and the other with Asperger syndrome, Jamain et al. (2003) identified a frameshift mutation (1186T) in the human-NLGN4X gene, resulting in a stop codon at position 396 and premature truncation of the protein before the transmembrane domain. The mutation was present in the mother and absent in an unaffected brother and 350 controls. See other contradictory results Gauthier et al. Vincent et al., but other mutations found Laumonnier et al. Yan et al. Incomplete penetrance suspected for some mutations. In 2 brothers with autism, one with typical autism and the other with Asperger syndrome, Jamain et al. (2003) identified a mutation R451C in the human-NLGN3 gene. arg451 in NLGN3, arg386 in BCHE, and arg395 in ACHE are conserved in mammalian species. In cellular transfection studies, De Jaco et al. (2006) inserted mutations homologous to the NLGN3 R451C mutation in BCHE and ACHE cDNAs and found that these mutations resulted in endoplasmic reticulum retention of the 2 proteins, similar to that observed with the NLGN3 R451C mutant protein. Tabuchi et al. (2007) introduced the R451C substitution in neuroligin-3 into mice. R451C mutant mice showed impaired social interactions but enhanced spatial learning abilities. Unexpectedly these behavioral changes were accompanied by an increase in inhibitory synaptic transmission with no apparent effect on excitatory synapses. Deletion of neuroligin-3, in contrast, did not cause such changes, indicating that the R451C substitution represents a gain-of-function mutation. Tabuchi et al. (2007) concluded that increased inhibitory synaptic transmission may contribute to human autism spectrum disorders and that the R451C knockin mice may be a useful model for studying autism-related behaviors. Recently Venkatesh et al. showed that neuronal activity promotes glioma growth through Neuroligin-3 secretion. Recently Neuroligin 2 mutations were associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.Many mutations on X-linked cell NLGN4X result in ASD or intellectual disability. NLGN4Y cannot compensate for the functional deficits due to NLGN4X mutations
5 Disease(s)


Database
Sequences
Interpro
|
IPR000460 (Neuroligin), IPR030022 (Neuroligin-1), IPR030023 (Neuroligin-2), IPR030024 (Neuroligin-3), IPR030025 (Neuroligin-4), IPR002018 (Carboxylesterase, type B)
PIRSF
|
Pdoc
|
PFam
|
PF00135 (COesterase)
Prints
|
Prosite
|
no EC number



Peptide in
|Fasta
Nucleotide in
|Fasta
Alignment with Multalin
|Text only/graphic display
Seed alignment with MAFFT
|No colour/coloured with Mview
Alignment with MAFFT
|No colour/coloured with Mview
Dendrogram
|Graphical display, obtained with the dnd file produced by Clustalw

References
61 more
    Title: Of Humans and Gerbils- Independent Diversification of Neuroligin-4 Into X- and Y-Specific Genes in Primates and Rodents
    Maxeiner S, Benseler F, Brose N, Krasteva-Christ G
    Ref: Front Mol Neurosci, 15:838262, 2022 : PubMed

            

    Title: Cochlear ribbon synapse maturation requires Nlgn1 and Nlgn3
    Ramirez MA, Ninoyu Y, Miller C, Andrade LR, Edassery S, Bomba-Warczak E, Ortega B, Manor U, Rutherford MA and Savas JN <1 more author(s)>
    Ref: iScience, 25:104803, 2022 : PubMed

            

    Title: The neuroligins and the synaptic pathway in Autism Spectrum Disorder
    Trobiani L, Meringolo M, Diamanti T, Bourne Y, Marchot P, Martella G, Dini L, Pisani A, De Jaco A, Bonsi P
    Ref: Neurosci Biobehav Rev, 119:37, 2020 : PubMed

            

Other Papers


Structure scheme for Neuroligin

Structures in Neuroligin family (14)

Genes Proteins in Neuroligin family (517)

Fragments of genes in Neuroligin family (732)

No Substrate

No Inhibitor



Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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