NLGN1
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.
Involvement in disease
Autism 20
AUTS20
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the type-B carboxylesterase/lipase family.
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.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Postsynaptic density
- Synaptic cleft
- Synaptic cell membrane
- Enriched in synaptic plasma membranes and clustered in synaptic clefts and postsynaptic densities. Colocalized with DLG4/PSD-95 and GRIN1/NMDAR1.
Alternative names
KIAA1070, NLGN1, Neuroligin-1