Gene_Locus Report

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Gene_locus Report for: human-NLGN1

Homo sapiens (Human) Neuroligin 1 KIAA1070 protein

Comment
Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. On chromosome 3 q26.31 twice the begining (first exons AC026099.3.74552.122231 and AC069531.6.1.37580.120969) and then 630 kb further the rest of sequence in one exon?! AC008120.17.1.138779.25769. A frameshift mutation, c.875_876insTT, in the neuroligin 1 gene (NLGN1) in a patient with AD and familial history of AD. The insertion generates a premature stop codon in the extracellular domain of NL1 (p.Thr271fs). Expression of mutant NL1 shows accumulation of truncated NL1 proteins in the endoplasmic reticulum


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
6 mutations: Table (e.g. : G297E, H795Y, L269P ... more)
2 structures: 5OJ6, 5OJK
No kinetic

Disease: Neuroligin 1 Alzheimer's disease (AD) Autism -



No Substrate
No inhibitor
>3 Genbank links 9 more: AC008082, AC008120, AC092923
>3 UniProt links 1 more: Q8N2Q7, D2X2H5, C9J4D3
1 Ncbi-nid : 5689476
1 Ncbi-pid : 5689477
2 Structure : 5OJK, 5OJ6
>3 UniProt links 1 more: Q8N2Q7, D2X2H5, C9J4D3
>3 Interpro links 1 more: Q8N2Q7, D2X2H5, C9J4D3
>3 Prodom links 1 more: Q8N2Q7, D2X2H5, C9J4D3
>3 Pfam links 1 more: Q8N2Q7, D2X2H5, C9J4D3
>3 PIRSF links 1 more: Q8N2Q7, D2X2H5, C9J4D3
>3 SUPERFAM links 1 more: Q8N2Q7, D2X2H5, C9J4D3
1 EntrezGene : 22871
1 SNP : 22871
1 UniGene : 478289
1 HUGO HGNC : 14291
1 OMIM : 600568
1 Ensembl : ENSG00000169760
Sequence
Graphical view for this peptide sequence: human-NLGN1
Colored MSA for Neuroligin (raw)
MALPRCTWPNYVWRAVMACLVHRGLGAPLTLCMLGCLLQAGHVLSQKLDD
VDPLVATNFGKIRGIKKELNNEILGPVIQFLGVPYAAPPTGERRFQPPEP
PSPWSDIRNATQFAPVCPQNIIDGRLPEVMLPVWFTNNLDVVSSYVQDQS
EDCLYLNIYVPTEDVKRISKECARKPGKKICRKGGPLTKKHTDDLGDNDG
AEDEDIRDSGGPKPVMVYIHGGSYMEGTGNLYDGSVLASYGNVIVITVNY
RLGVLGFLSTGDQAAKGNYGLLDLIQALRWTSENIGFFGGDPLRITVFGS
GAGGSCVNLLTLSHYSEGNRWSNSTKGLFQRAIAQSGTALSSWAVSFQPA
KYARMLATKVGCNVSDTVELVECLQKKPYKELVDQDIQPARYHIAFGPVI
DGDVIPDDPQILMEQGEFLNYDIMLGVNQGEGLKFVENIVDSDDGISASD
FDFAVSNFVDNLYGYPEGKDVLRETIKFMYTDWADRHNPETRRKTLLALF
TDHQWVAPAVATADLHSNFGSPTYFYAFYHHCQTDQVPAWADAAHGDEVP
YVLGIPMIGPTELFPCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPVPQDT
KFIHTKPNRFEEVAWTRYSQKDQLYLHIGLKPRVKEHYRANKVNLWLELV
PHLHNLNDISQYTSTTTKVPSTDITFRPTRKNSVPVTSAFPTAKQDDPKQ
QPSPFSVDQRDYSTELSVTIAVGASLLFLNILAFAALYYKKDKRRHDVHR
RCSPQRTTTNDLTHAQEEEIMSLQMKHTDLDHECESIHPHEVVLRTACPP
DYTLAMRRSPDDVPLMTPNTITMIPNTIPGIQPLHTFNTFTGGQNNTLPH
PHPHPHSHSTTRV
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

MALPRCTWPNYVWRAVMACLVHRGLGAPLTLCMLGCLLQAGHVLSQKLDD
VDPLVATNFGKIRGIKKELNNEILGPVIQFLGVPYAAPPTGERRFQPPEP
PSPWSDIRNATQFAPVCPQNIIDGRLPEVMLPVWFTNNLDVVSSYVQDQS
EDCLYLNIYVPTEDVKRISKECARKPGKKICRKGGPLTKKHTDDLGDNDG
AEDEDIRDSGGPKPVMVYIHGGSYMEGTGNLYDGSVLASYGNVIVITVNY
RLGVLGFLSTGDQAAKGNYGLLDLIQALRWTSENIGFFGGDPLRITVFGS
GAGGSCVNLLTLSHYSEGNRWSNSTKGLFQRAIAQSGTALSSWAVSFQPA
KYARMLATKVGCNVSDTVELVECLQKKPYKELVDQDIQPARYHIAFGPVI
DGDVIPDDPQILMEQGEFLNYDIMLGVNQGEGLKFVENIVDSDDGISASD
FDFAVSNFVDNLYGYPEGKDVLRETIKFMYTDWADRHNPETRRKTLLALF
TDHQWVAPAVATADLHSNFGSPTYFYAFYHHCQTDQVPAWADAAHGDEVP
YVLGIPMIGPTELFPCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPVPQDT
KFIHTKPNRFEEVAWTRYSQKDQLYLHIGLKPRVKEHYRANKVNLWLELV
PHLHNLNDISQYTSTTTKVPSTDITFRPTRKNSVPVTSAFPTAKQDDPKQ
QPSPFSVDQRDYSTELSVTIAVGASLLFLNILAFAALYYKKDKRRHDVHR
RCSPQRTTTNDLTHAQEEEIMSLQMKHTDLDHECESIHPHEVVLRTACPP
DYTLAMRRSPDDVPLMTPNTITMIPNTIPGIQPLHTFNTFTGGQNNTLPH
PHPHPHSHSTTRV


References
12 more
    Title: Graphene oxide disrupts the protein-protein interaction between Neuroligin/NLG-1 and DLG-1 or MAGI-1 in nematode Caenorhabditis elegans
    Zhao Y, Chen H, Yang Y, Wu Q, Wang D
    Ref: Sci Total Environ, 700:134492, 2019 : PubMed

            

    Title: A unique intracellular tyrosine in neuroligin-1 regulates AMPA receptor recruitment during synapse differentiation and potentiation
    Letellier M, Sziber Z, Chamma I, Saphy C, Papasideri I, Tessier B, Sainlos M, Czondor K, Thoumine O
    Ref: Nat Commun, 9:3979, 2018 : PubMed

            

    Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
    Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O
    Ref: DNA Research, 6:197, 1999 : 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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