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
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> 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 (ordered Natural and SD mutagenesis) (e.g. : H795Y, P89L, T90I ... more)
2 structures: 5OJK, 5OJ6
No kinetic
Disease: Neuroligin 1 Alzheimer's disease (AD) Autism -


>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 UniProtTrembl 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
>3 QuickSwissBlast 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

Graphical view for this nucleotide DNA sequence (5073 bp): human-NLGN1
>human-NLGN1
gtggctttgggtccccaggattctggatcgtggttgcatctggagagaaa
aaaggatcaatcgacacgttttagaagtgtccgtgggtgaataaaaaagg
agggggggggtgcaaaactggggttgcggatgcttaaagcaaaaaaagag
aaaaggaagcgtcttgaatcctggaacaagaattaccgggtgctcgagat
ttcaaaaaagcgtctagaaactggtaaatacttggaccatttcagcttga
atttgacggcgaagtgttgtagagaccgtctccttgaatcattgcaaagg
gaccggggaaagatgagggggctccctctgtggatttatcttgctgaggg
atatagacctgcagctaactggatttgatttataagagagaaatctgcag
tcaatgcccactcttgccacactgctaatatggaaaacagaatgttcaat
aggatatggtctgataaatagtgatgattgaagatgctgctccaatacat
gtgaaatcaatgggagatatctgctgtccgaagatctttcagagcttttc
tcgacaagctcccctgtaagaaatcggaggtatattctaccattatacag
tctttctcaagtggatataaatacgtttgcctcactgtaaccagacaact
agacaactaatgtgggaccatggcactgcccagatgcacgtggccaaatt
atgtttggagagcagtgatggcatgcttggtacaccggggattgggtgcc
ccattgactctctgtatgttgggatgtttgcttcaggctggccatgtgct
atcacaaaaattggatgatgtggacccactggtggctaccaactttggaa
agataagagggattaagaaggaactcaataatgaaattttggggcctgtt
attcaatttcttggggttccatatgcagccccaccaacaggggaacgtcg
ttttcagcctccagaaccaccatctccctggtcagatatcagaaatgcca
ctcaatttgctcctgtgtgtccccagaatatcattgatggcagattgcca
gaagtcatgcttcctgtgtggtttactaataacttggatgtggtttcatc
atatgtgcaagaccagagcgaagactgcctatatttaaatatatatgtcc
cgactgaggatgatattcgggacagtgggggtcccaaaccagtgatggtg
tatatccatggtggctcatatatggaaggtactggaaatttatatgatgg
aagtgtcttggcaagttatggcaatgtgatcgtcatcacagtcaactatc
gacttggagtactcggtttcttgagtacaggcgatcaggctgcaaagggg
aactatggactccttgatctcatacaagctttaagatggactagtgaaaa
cattggattctttggtggtgaccccttaagaatcactgtttttggatctg
gtgctgggggttcatgtgtcaacctgctgactttatcccattattctgaa
ggtaaccgttggagcaattcaaccaaaggactttttcaacgagcaatagc
tcaaagtggaacagccctttccagctgggctgttagttttcaacctgcaa
aatatgctagaatgttggccacaaaagttggttgcaatgtttcagataca
gtagagttagtggaatgcctacagaagaagccttacaaagaacttgttga
ccaagatattcaaccagctcgataccacatagcctttggacctgtgattg
atggtgatgtaataccagacgacccccagatattgatggagcaaggagag
tttctcaactatgatataatgttaggagtgaaccaaggggaagggttaaa
atttgttgaaaatatagtagatagcgatgatggtatatcagctagtgatt
ttgactttgctgtttcaaattttgttgataatttatatggatatcctgaa
ggcaaagatgttttgagagaaaccattaagttcatgtatactgactgggc
tgaccgtcataaccctgaaaccagaagaaagacattactggctttgttta
cggaccatcagtgggtggcaccagctgtagccacagcggatcttcactca
aactttggttcacctacgtacttctatgccttttaccatcattgccaaac
agatcaggttccagcttgggctgatgcagcccacggagacgaggttccct
atgtactgggaatccccatgattggccctacagagttatttccttgcaat
ttctccaaaaatgatgtgatgctgagtgcagttgtaatgacatactggac
aaattttgctaaaactggtgacccaaatcaaccagtccctcaagacacga
aattcattcataccaaacccaaccgttttgaagaagtagcatggaccaga
tattcccagaaagaccaactttatctccatattggattaaaaccaagagt
taaagaacattacagagccaataaggtgaacctctggttggagttggtac
ctcatctgcataatctcaatgacatttctcagtatacctctacaacaact
aaagtgccatcaactgacatcactttcagacctacgagaaaaaattctgt
acctgtcacgtcagcctttcccactgccaagcaggatgatcccaaacaac
aaccaagtccattttcagtggatcaaagggactactcaacagagctgagt
gtcactattgcagttggagcatcactgctgtttctgaacatcttggcctt
tgcagccctgtactacaaaaaggataagaggagacatgatgttcacagga
gatgcagccctcagcgcactactaccaatgatctaacccatgcacaagaa
gaggaaatcatgtccctccaaatgaagcacactgatttggatcatgaatg
tgagtccattcatccacatgaggtggttcttcggaccgcctgtcccccag
attacacactagctatgaggaggtcacctgatgatgttcccttaatgaca
cccaacaccattacaatgattcccaacactataccagggattcagccctt
acacacattcaatacatttactggaggacagaacaatactctgccccatc
cccatccccacccccattcacattcaacaaccagggtatagccagataag
agaaacaaactattttttttgatggattgcagtaaacgatcactgaagat
tccttggctttcaacctacaagacttactatttaaataaggaggaatatt
atgtgaatatacatatcaagaactttgggggttttgaaaaaaatgaattg
tatatatacaaatcaactttaaaaacaaatttcaattgcttgaagcaatt
gttctgaatgatactttttcattcacattcaagaattaattttttgaaga
tttaagttacataatggaattaggcatgtggaacaccaaacaggaaagaa
ctatgtctgaaatataaaaaataaaaataaaaaaacaactatgaatatgc
acaagggacacaccagtggaatgtcagataattttcaccagtttttattt
ggagccgttttattgtgtagaccatatttacatatttggataagtacaca
aagcgtcaatgctgttaatggccttagcaaaggctcatgctgaaatttgc
cagtaaaacaaagaagtttaaagactggcaggtacaccattatcacataa
gtgctgtcagtataaagttgtggggataaaggaaactggatatttttagc
acgatgtgcatgataatttatatgcttggtggctgtgctgctgattaagc
cgtaattaaaattcttctcatcccattggagtttttaatagaagcttcct
ccatcaattggcagaacctaaagaagattttaaggggcaaaagtaattac
aataaaataattcacagtagtttcaatatagaaggaattagctattaaag
gtatttgaagaaactataggtatagtggtgaatactcgctgatatgaatc
ccagaaaaaatttcctgtttttaatgttcttttcaatcccatctagataa
tttatagaaatataaccctaattggacatgtggtagaggatctataagtt
gctgtgtttttttgttactctgtattttgttccttttggtaaggtgaagt
gtgtccaaagagttacttgcaacagtctttcatgatatgaggatgccccc
gtattaccactctgattatagttctgagttctttgatttactcatgctgc
atgacaaaatgtttactaataacaattcattataaagttatatccctctt
tacatcacttatctttctcactgaggttcattcactggaatttactcacg
caatctcagtagagtacaacgtagatacagaacctaggagagtcaacatc
tggaggattttagtctttcttacacatatgtgtgattttaaacgaatatt
ctcagaccacaggaaactcttcatccccctgttgtttaccagtaacagta
tatcacagacctttccaaatgtttgtatatgtaatcagatgtacatttat
attgaaaaacaaatgagatggacttaaagagcacatcctgataaatactt
tctctctcacctgtactatatttctattagactaaagttatgtgattttt
tttttacattttttcagatgactagcaattttgatagtttataagataat
gcaaagaactttctctgacaaactaactgcagtaacagaaacctttcttt
tcagttactctttttcaagaatgaaagattattatacaaaaaattgtata
ctacttgatggaaccaactttgtacatcttggccatgtcactggtcattg
tgtgaaataaagataatctggataatgactattagtccaatgctaagaaa
catgatctttgctcattaaagagctaaaatgtttattgctgttttgtctt
tcttttttct



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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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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