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Gene_locus Report for: human-NLGN3

Homo sapiens (Human) Neuroligin 3 KIAA1480

Comment
Neuroligins constitute a family of proteins thought to mediate cell-to-cell interactions between neurons. Neuroligins function as ligands for the neurexin family of cell surface receptors. Homo sapiens KIAA1480 . More recently it was cloned by Philibert et al. with some aa differences and with two alternative forms HNL3 HNLS3S. ChrX q21.1. 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 new findings support the neuroligin pathway in autism. In particular the R451C mutant mice (R451C_mouse-3neur identical to human mutation R451C_human-NLGN3) showed impaired social interactions but enhanced spatial learning abilities. Tabuchi et al. Comments in Garber et al., Crawley et al.


Relationship
Family|Neuroligin
Block| C
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
3 mutations: TableP514S, R451C, R597W
No structure
No kinetic

Disease: Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1 -



No Substrate
No inhibitor
>3 Genbank links 21 more: AF71233, AF71232, AF71231
>3 UniProt links 4 more: Q9NZ94, X5DRC3, X5D7L6
1 Ncbi-nid : 7960136
1 Ncbi-pid : 7960136
>3 UniProt links 9 more: Q9NZ94, Q6MZK0, Q4G160
>3 Interpro links 9 more: Q9NZ94, Q6MZK0, Q4G160
>3 Prodom links 9 more: Q9NZ94, Q6MZK0, Q4G160
>3 Pfam links 9 more: Q9NZ94, Q6MZK0, Q4G160
>3 PIRSF links 9 more: Q9NZ94, Q6MZK0, Q4G160
>3 SUPERFAM links 9 more: Q9NZ94, Q6MZK0, Q4G160
1 EntrezGene : 54413
1 SNP : 54413
1 UniGene : 438877
1 HUGO HGNC : 14289
2 OMIM : 300336, 300494
1 Ensembl : ENSG00000196338
Sequence
Graphical view for this peptide sequence: human-NLGN3
Colored MSA for Neuroligin (raw)
MWLRLGPPSLSLSPKPTVGRSLCLTLWFLSLALRASTQAPAPTVNTHFGK
LRGARVPLPSEILGPVDQYLGVPYAAPPIGEKRFLPPEPPPSWSGIRNAT
HFPPVCPQNIHTAVPEVMLPVWFTANLDIVATYIQEPNEDCLYLNVYVPT
EDVKRISKECARKPNKKICRKGGSGAKKQGEDLADNDGDEDEDIRDSGAK
PVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITLNYRVGVLGFLSTGDQ
AAKGNYGLLDQIQALRWVSENIAFFGGDPRRITVFGSGIGASCVSLLTLS
HHSEGLFQRAIIQSGSALSSWAVNYQPVKYTSLLADKVGCNVLDTVDMVD
CLRQKSAKELVEQDIQPARYHVAFGPVIDGDVIPDDPEILMEQGEFLNYD
IMLGVNQGEGLKFVEGVVDPEDGVSGTDFDYSVSNFVDNLYGYPEGKDTL
RETIKFMYTDWADRDNPETRRKTLVALFTDHQWVEPSVVTADLHARYGSP
TYFYAFYHHCQSLMKPAWSDAAHGDEVPYVFGVPMVGPTDLFPCNFSKND
VMLSAVVMTYWTNFAKTGDPNKPVPQDTKFIHTKANRFEEVAWSKYNPRD
QLYLHIGLKPRVRDHYRATKVAFWKHLVPHLYNLHDMFHYTSTTTKVPPP
DTTHSSHITRRPNGKTWSTKRPAISPAYSNENAQGSWNGDQDAGPLLVEN
PRDYSTELSVTIAVGASLLFLNVLAFAALYYRKDKRRQEPLRQPSPQRGA
GAPELGAAPEEELAALQLGPTHHECEAGPPHDTLRLTALPDYTLTLRRSP
DDIPLMTPNTITMIPNSLVGLQTLHPYNTFAAGFNSTGLPHSHSTTRV
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MWLRLGPPSLSLSPKPTVGRSLCLTLWFLSLALRASTQAPAPTVNTHFGK
LRGARVPLPSEILGPVDQYLGVPYAAPPIGEKRFLPPEPPPSWSGIRNAT
HFPPVCPQNIHTAVPEVMLPVWFTANLDIVATYIQEPNEDCLYLNVYVPT
EDVKRISKECARKPNKKICRKGGSGAKKQGEDLADNDGDEDEDIRDSGAK
PVMVYIHGGSYMEGTGNMIDGSILASYGNVIVITLNYRVGVLGFLSTGDQ
AAKGNYGLLDQIQALRWVSENIAFFGGDPRRITVFGSGIGASCVSLLTLS
HHSEGLFQRAIIQSGSALSSWAVNYQPVKYTSLLADKVGCNVLDTVDMVD
CLRQKSAKELVEQDIQPARYHVAFGPVIDGDVIPDDPEILMEQGEFLNYD
IMLGVNQGEGLKFVEGVVDPEDGVSGTDFDYSVSNFVDNLYGYPEGKDTL
RETIKFMYTDWADRDNPETRRKTLVALFTDHQWVEPSVVTADLHARYGSP
TYFYAFYHHCQSLMKPAWSDAAHGDEVPYVFGVPMVGPTDLFPCNFSKND
VMLSAVVMTYWTNFAKTGDPNKPVPQDTKFIHTKANRFEEVAWSKYNPRD
QLYLHIGLKPRVRDHYRATKVAFWKHLVPHLYNLHDMFHYTSTTTKVPPP
DTTHSSHITRRPNGKTWSTKRPAISPAYSNENAQGSWNGDQDAGPLLVEN
PRDYSTELSVTIAVGASLLFLNVLAFAALYYRKDKRRQEPLRQPSPQRGA
GAPELGAAPEEELAALQLGPTHHECEAGPPHDTLRLTALPDYTLTLRRSP
DDIPLMTPNTITMIPNSLVGLQTLHPYNTFAAGFNSTGLPHSHSTTRV


References
28 more
    Title: NLGN3 Upregulates Expression of ADAM10 to Promote the Cleavage of NLGN3 via Activating the LYN Pathway in Human Gliomas
    Dang NN, Li XB, Zhang M, Han C, Fan XY, Huang SH
    Ref: Front Cell Developmental Biology, 9:662763, 2021 : PubMed

            

    Title: Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
    Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O
    Ref: DNA Research, 6:63, 1999 : PubMed

            

    Title: Binding of neuroligins to PSD-95
    Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai Y, Rosahl TW, Sudhof TC
    Ref: Science, 277:1511, 1997 : PubMed

            


Other Papers


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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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