NLGN1
entrez
22871
canonical
uniprot
Q8N2Q7
canonical
ensembl
ENSG00000169760
resolver
ensp
ENSP00000354541
resolver
ensp
ENSP00000392500
resolver
ensp
ENSP00000410374
resolver
ensp
ENSP00000511841
resolver
enst
ENST00000695368
resolver
genesymbol
NLGN1
resolver
genesymbol_syn
KIAA1070
resolver
hgnc
HGNC:14291
resolver
uniprot
A0A8Q3SHM6
resolver
uniprot
D2X2H5
resolver
uniprot
Q9UPT2
resolver
uniprot_entry
A0A8Q3SHM6_HUMAN
resolver
uniprot_entry
NLGN1_HUMAN
resolver
uniprot_sec
D2X2H5
resolver
uniprot_sec
Q9UPT2
resolver
amino_acid_sequence
MALPRCTWPNYVWRAVMACLVHRGLGAPLTLCMLGCLLQAGHVLSQKLDDVDPLVATNFGKIRGIKKELNNEILGPVIQFLGVPYAAPPTGERRFQPPEPPSPWSDIRNATQFAPVCPQNIIDGRLPEVMLPVWFTNNLDVVSSYVQDQSEDCLYLNIYVPTEDVKRISKECARKPGKKICRKGGPLTKKQTDDLGDNDGAEDEDIRDSGGPKPVMVYIHGGSYMEGTGNLYDGSVLASYGNVIVITVNYRLGVLGFLSTGDQAAKGNYGLLDLIQALRWTSENIGFFGGDPLRITVFGSGAGGSCVNLLTLSHYSEGNRWSNSTKGLFQRAIAQSGTALSSWAVSFQPAKYARMLATKVGCNVSDTVELVECLQKKPYKELVDQDIQPARYHIAFGPVIDGDVIPDDPQILMEQGEFLNYDIMLGVNQGEGLKFVENIVDSDDGISASDFDFAVSNFVDNLYGYPEGKDVLRETIKFMYTDWADRHNPETRRKTLLALFTDHQWVAPAVATADLHSNFGSPTYFYAFYHHCQTDQVPAWADAAHGDEVPYVLGIPMIGPTELFPCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPVPQDTKFIHTKPNRFEEVAWTRYSQKDQLYLHIGLKPRVKEHYRANKVNLWLELVPHLHNLNDISQYTSTTTKVPSTDITFRPTRKNSVPVTSAFPTAKQDDPKQQPSPFSVDQRDYSTELSVTIAVGASLLFLNILAFAALYYKKDKRRHDVHRRCSPQRTTTNDLTHAQEEEIMSLQMKHTDLDHECESIHPHEVVLRTACPPDYTLAMRRSPDDVPLMTPNTITMIPNTIPGIQPLHTFNTFTGGQNNTLPHPHPHPHSHSTTRV
uniprot
proteins
disease_involvement
DISEASE: Autism 20 (AUTS20) [MIM:618830]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. The transmission pattern of AUTS20 is consistent with autosomal dominant inheritance. {ECO:0000269|PubMed:28841651}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep (By similarity). The protein is involved in nervous system development. {ECO:0000250|UniProtKB:Q99K10, ECO:0000269|PubMed:28841651}.
uniprot
proteins
mass_dalton
96368
uniprot
proteins
post_translational_modification
PTM: N-glycosylated, contains high-mannose, hybrid, complex and sialylated N-glycans. N-glycosylation is essential for localization to synapses, dendrites, and the cell membrane, and enhances its availability for trans-synaptic adhesion. O-glycosylated. {ECO:0000250|UniProtKB:Q62765}.
uniprot
proteins
protein_family
Type-B carboxylesterase/lipase family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16882988
uniprot
proteins
pubmed
18755801
uniprot
proteins
pubmed
19926856
uniprot
proteins
pubmed
20034102
uniprot
proteins
pubmed
28841651
uniprot
proteins
pubmed
28972980
uniprot
proteins
pubmed
30460678
uniprot
proteins
pubmed
9278515
uniprot
proteins
sequence_length
863
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28841651}; Single-pass type I membrane protein {ECO:0000255}. Postsynaptic density {ECO:0000250|UniProtKB:Q62765}. Synaptic cleft {ECO:0000250|UniProtKB:Q62765}. Synaptic cell membrane {ECO:0000250|UniProtKB:Q62765}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q62765}. Synapse {ECO:0000250|UniProtKB:Q62765}. Note=Enriched in synaptic plasma membranes and clustered in synaptic clefts and postsynaptic densities. Colocalized with DLG4/PSD-95 and GRIN1/NMDAR1. Localizes to dendritic membrane. {ECO:0000250|UniProtKB:Q62765}.
uniprot
proteins
transmembrane_region
TRANSMEM 718..738; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins