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Gene Review

NLGN1  -  neuroligin 1

Homo sapiens

Synonyms: KIAA1070, Neuroligin-1
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Disease relevance of NLGN1

  • A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33 [1].

Psychiatry related information on NLGN1

  • Our findings suggest that the previously identified mutations in neuroligin genes are likely to be relevant for the neuro-developmental defects in autism-spectrum disorders and mental retardation since they impair the function of a synaptic cell adhesion molecule [2].

High impact information on NLGN1

  • In situ hybridization reveals that alternative splicing of neurexins at the site recognized by neuroligin 1 is highly regulated [3].
  • Here we describe neuroligin 1, a neuronal cell surface protein that is enriched in synaptic plasma membranes and acts as a splice site-specific ligand for beta-neurexins [3].
  • Neuroligation: building synapses around the neurexin-neuroligin link [4].
  • It is thought to be triggered by members of the neuroligin family of postsynaptic cell adhesion proteins, which may form transsynaptic contacts with presynaptic alpha- and beta-neurexins and have been implicated in the etiology of autism [5].
  • Neuroligin, butyrylcholinesterase, and acetylcholinesterase are members of the alpha,beta-hydrolase fold family of proteins sharing sequence similarity and common tertiary structures [6].

Biological context of NLGN1


Anatomical context of NLGN1


Associations of NLGN1 with chemical compounds

  • Incomplete processing of the protein and enzymatic removal of the oligosaccharides chain or the terminal sialic acids from neuroligin-1 enhance its activity, whereas deglycosylation of neurexin-1beta did not alter its association capacity [8].
  • The Arg473Cys-neuroligin-1 mutation modulates NMDA mediated synaptic transmission and receptor distribution in hippocampal neurons [16].
  • T28C12.4, which encodes a protein with limited homology to human neuroligin, was also specific to ethanol stress [17].
  • Functional excitatory synapses in HEK293 cells expressing neuroligin and glutamate receptors [18].

Other interactions of NLGN1

  • Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at NLGN1 (rs1488545, P=0.002), NLGN3 (DXS7132, P=0.014), and NLGN4 (DXS996, P=0.031) [7].
  • X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family [1].
  • The 3D model of the GOPC PDZ domain/neuroligin C-terminal peptide complex was constructed with the aid of the molecular dynamics simulation method [14].
  • GOPC interacts with many other proteins, such as the Wnt receptors Frizzled 8 and neuroligin via its PDZ domain [14].
  • We demonstrate that addition of the S4 insert selectively reduces the ability of neurexin-1beta to cluster neuroligin-1/3/4 and glutamatergic postsynaptic proteins, although clustering of neuroligin-2 and GABAergic postsynaptic proteins remain strong [19].

Analytical, diagnostic and therapeutic context of NLGN1

  • Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism [20].
  • Moreover, the results of fluorescence in situ hybridization (FISH) analysis with BAC probes suggest a disruption of the NLGN1 gene at the distal end of the duplication in 3q26.31 in the patient [10].
  • Northern-blot analysis revealed expression of neuroligin 4 in heart, liver, skeletal muscle and pancreas, but barely at all in brain [15].
  • We took this opportunity recording for the first-time synaptic currents in human embryonic kidney 293 (HEK293) cells transfected with neuroligin and the N-methyl-d-aspartate or AMPA receptor subunits in a co-culture with rat cerebellar granule cells [18].
  • We have characterized, in vitro, interactions between hippocampal neuronal cells and silica microbeads coated with synthetic, fluid, lipid bilayer membranes containing the glycosylphosphatidyl inositol (GPI)-linked extracellular domain of the postsynaptic membrane protein neuroligin-1 [21].


  1. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., Laudier, B., Chelly, J., Fryns, J.P., Ropers, H.H., Hamel, B.C., Andres, C., Barthélémy, C., Moraine, C., Briault, S. Am. J. Hum. Genet. (2004) [Pubmed]
  2. Disorder-associated mutations lead to functional inactivation of neuroligins. Chih, B., Afridi, S.K., Clark, L., Scheiffele, P. Hum. Mol. Genet. (2004) [Pubmed]
  3. Neuroligin 1: a splice site-specific ligand for beta-neurexins. Ichtchenko, K., Hata, Y., Nguyen, T., Ullrich, B., Missler, M., Moomaw, C., Südhof, T.C. Cell (1995) [Pubmed]
  4. Neuroligation: building synapses around the neurexin-neuroligin link. Rao, A., Harms, K.J., Craig, A.M. Nat. Neurosci. (2000) [Pubmed]
  5. Neuroligins determine synapse maturation and function. Varoqueaux, F., Aramuni, G., Rawson, R.L., Mohrmann, R., Missler, M., Gottmann, K., Zhang, W., Südhof, T.C., Brose, N. Neuron (2006) [Pubmed]
  6. A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family. De Jaco, A., Comoletti, D., Kovarik, Z., Gaietta, G., Radic, Z., Lockridge, O., Ellisman, M.H., Taylor, P. J. Biol. Chem. (2006) [Pubmed]
  7. Analysis of four neuroligin genes as candidates for autism. Ylisaukko-oja, T., Rehnström, K., Auranen, M., Vanhala, R., Alen, R., Kempas, E., Ellonen, P., Turunen, J.A., Makkonen, I., Riikonen, R., Nieminen-von Wendt, T., von Wendt, L., Peltonen, L., Järvelä, I. Eur. J. Hum. Genet. (2005) [Pubmed]
  8. Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta. Comoletti, D., Flynn, R., Jennings, L.L., Chubykin, A., Matsumura, T., Hasegawa, H., Südhof, T.C., Taylor, P. J. Biol. Chem. (2003) [Pubmed]
  9. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Vincent, J.B., Kolozsvari, D., Roberts, W.S., Bolton, P.F., Gurling, H.M., Scherer, S.W. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004) [Pubmed]
  10. Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region. Meins, M., Hagh, J.K., Gerresheim, F., Einhoff, E., Olschewski, H., Strehl, H., Epplen, J.T. Am. J. Med. Genet. A (2005) [Pubmed]
  11. Acetylcholinesterase-transgenic mice display embryonic modulations in spinal cord choline acetyltransferase and neurexin Ibeta gene expression followed by late-onset neuromotor deterioration. Andres, C., Beeri, R., Friedman, A., Lev-Lehman, E., Henis, S., Timberg, R., Shani, M., Soreq, H. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  12. Progress from the postsynaptic side: signaling in synaptic differentiation. Biederer, T. Sci. STKE (2005) [Pubmed]
  13. The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. Comoletti, D., De Jaco, A., Jennings, L.L., Flynn, R.E., Gaietta, G., Tsigelny, I., Ellisman, M.H., Taylor, P. J. Neurosci. (2004) [Pubmed]
  14. Solution structure of GOPC PDZ domain and its interaction with the C-terminal motif of neuroligin. Li, X., Zhang, J., Cao, Z., Wu, J., Shi, Y. Protein Sci. (2006) [Pubmed]
  15. Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression. Bolliger, M.F., Frei, K., Winterhalter, K.H., Gloor, S.M. Biochem. J. (2001) [Pubmed]
  16. The Arg473Cys-neuroligin-1 mutation modulates NMDA mediated synaptic transmission and receptor distribution in hippocampal neurons. Khosravani, H., Altier, C., Zamponi, G.W., Colicos, M.A. FEBS Lett. (2005) [Pubmed]
  17. Ethanol-response genes and their regulation analyzed by a microarray and comparative genomic approach in the nematode Caenorhabditis elegans. Kwon, J.Y., Hong, M., Choi, M.S., Kang, S., Duke, K., Kim, S., Lee, S., Lee, J. Genomics (2004) [Pubmed]
  18. Functional excitatory synapses in HEK293 cells expressing neuroligin and glutamate receptors. Fu, Z., Washbourne, P., Ortinski, P., Vicini, S. J. Neurophysiol. (2003) [Pubmed]
  19. Structure function and splice site analysis of the synaptogenic activity of the neurexin-1beta LNS domain. Graf, E.R., Kang, Y., Hauner, A.M., Craig, A.M. J. Neurosci. (2006) [Pubmed]
  20. Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism. Chubykin, A.A., Liu, X., Comoletti, D., Tsigelny, I., Taylor, P., Südhof, T.C. J. Biol. Chem. (2005) [Pubmed]
  21. Neuronal activation by GPI-linked neuroligin-1 displayed in synthetic lipid bilayer membranes. Baksh, M.M., Dean, C., Pautot, S., Demaria, S., Isacoff, E., Groves, J.T. Langmuir : the ACS journal of surfaces and colloids. (2005) [Pubmed]
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