Gene Gene information from NCBI Gene database.
Entrez ID 22871
Gene name Neuroligin 1
Gene symbol NLGN1
Synonyms (NCBI Gene)
NL1NLG1
Chromosome 3
Chromosome location 3q26.31
Summary This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided b
miRNA miRNA information provided by mirtarbase database.
69
miRTarBase ID miRNA Experiments Reference
MIRT720878 hsa-miR-5088-5p HITS-CLIP 19536157
MIRT720877 hsa-miR-4446-3p HITS-CLIP 19536157
MIRT720876 hsa-miR-3158-3p HITS-CLIP 19536157
MIRT708819 hsa-miR-4705 HITS-CLIP 19536157
MIRT708818 hsa-miR-31-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
99
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding NAS 21838267
GO:0005576 Component Extracellular region IEA
GO:0005794 Component Golgi apparatus ISS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane IMP 28841651
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600568 14291 ENSG00000169760
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N2Q7
Protein name Neuroligin-1
Protein 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 sy
PDB 5OJ6 , 5OJK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00135 COesterase 51 646 Carboxylesterase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the blood vessel walls (at protein level). Highly expressed in brain through prenatal stages, and at lower levels in pancreas islet beta cells. {ECO:0000269|PubMed:18755801, ECO:0000269|PubMed:19926856, ECO:0000269|PubMed:
Sequence
MALPRCTWPNYVWRAVMACLVHRGLGAPLTLCMLGCLLQAGHVLSQKLDDVDPLVATNFG
KIRGIKKELNNEILGPVIQFLGVPYAAPPTGERRFQPPEPPSPWSDIRNATQFAPVCPQN
IIDGRLPEVMLPVWFTNNLDVVSSYVQDQSEDCLYLNIYVPTEDVKRISKECARKPGKKI
CRKGGPLTKKQTDDLGDNDGAEDEDIRDSGGPKPVMVYIHGGSYMEGTGNLYDGSVLASY
GNVIVITVNYRLGVLGFLSTGDQAAKGNYGLLDLIQALRWTSENIGFFGGDPLRITVFGS
GAGGSCVNLLTLSHYSEGNRWSNSTKGLFQRAIAQSGTALSSWAVSFQPAKYARMLATKV
GCNVSDTVELVECLQKKPYKELVDQDIQPARYHIAFGPVIDGDVIPDDPQILMEQGEFLN
YDIMLGVNQGEGLKFVENIVDSDDGISASDFDFAVSNFVDNLYGYPEGKDVLRETIKFMY
TDWADRHNPETRRKTLLALFTDHQWVAPAVATADLHSNFGSPTYFYAFYHHCQTDQVPAW
ADAAHGDEVPYVLGIPMIGPTELFPCNFSKNDVMLSAVVMTYWTNFAKTGDPNQPVPQDT
KFIHTKPNRFEEVAWTRYSQKDQLYLHIGLKPRVKEHYRANKVNLW
LELVPHLHNLNDIS
QYTSTTTKVPSTDITFRPTRKNSVPVTSAFPTAKQDDPKQQPSPFSVDQRDYSTELSVTI
AVGASLLFLNILAFAALYYKKDKRRHDVHRRCSPQRTTTNDLTHAQEEEIMSLQMKHTDL
DHECESIHPHEVVLRTACPPDYTLAMRRSPDDVPLMTPNTITMIPNTIPGIQPLHTFNTF
TGGQNNTLPHPHPHPHSHSTTRV
Sequence length 863
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules   Neurexins and neuroligins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism, susceptibility to, 20 Conflicting classifications of pathogenicity; Uncertain significance; risk factor rs749776633, rs752889815, rs1751123722, rs1750373491, rs1751075634, rs568763160 RCV005399157
RCV003991078
RCV001093627
RCV001093628
RCV001093629
RCV004799426
NLGN1-related disorder Benign; Uncertain significance; Likely benign rs7646919, rs147487792, rs2548804496, rs2548762559, rs749502013, rs1025774287, rs776117436, rs150137049, rs981103140, rs16858840, rs2548794862, rs750281465, rs77343837, rs2473592833, rs115286304 RCV003975875
RCV003410146
RCV003400207
RCV003410501
RCV003897065
RCV003964506
RCV003964523
RCV003974258
RCV003964573
RCV003973912
RCV003899583
RCV003933970
RCV003907290
RCV003932101
RCV003910544
See cases Uncertain significance rs140900040, rs2546615886 RCV002252601
RCV003128477
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Inhibit 33522967
Autism Spectrum Disorder Associate 21915259, 22952857, 32127416
Autistic Disorder Associate 18084303, 19404257, 27219346
Cognition Disorders Associate 33522967
Colorectal Neoplasms Associate 34340665
Corticobasal Degeneration Associate 33522967
Hirschsprung Disease Associate 26109803
Hypertension Associate 33792450
Neurodegenerative Diseases Associate 33522967
Pick Disease of the Brain Associate 33522967