NLGN3

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. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]

Neuroligin 3

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 may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity).

Adult behaviorManual Assertion Based On ExperimentIMP:BHF-UCL
Axon extensionISS:BHF-UCL
Chemical synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Inhibitory postsynaptic potentialISS:BHF-UCL
LearningManual Assertion Based On ExperimentIMP:BHF-UCL
Modulation of chemical synaptic transmissionISS:BHF-UCL
Neuron cell-cell adhesionISS:BHF-UCL
Positive regulation of AMPA receptor activityISS:BHF-UCL
Positive regulation of excitatory postsynaptic potentialISS:BHF-UCL
Positive regulation of synapse assemblyISS:BHF-UCL
Positive regulation of synaptic transmission, glutamatergicISS:BHF-UCL
Postsynaptic membrane assemblyISS:BHF-UCL
Presynapse assemblyManual Assertion Based On ExperimentTAS:ARUK-UCL
Presynaptic membrane assemblyISS:BHF-UCL
Receptor-mediated endocytosisISS:BHF-UCL
Regulation of respiratory gaseous exchange by nervous system processISS:BHF-UCL
Rhythmic synaptic transmissionISS:BHF-UCL
Social behaviorManual Assertion Based On ExperimentIMP:UniProtKB
Synapse assemblyISS:BHF-UCL
Synapse organizationManual Assertion Based On ExperimentIMP:UniProtKB
Synaptic vesicle endocytosisManual Assertion Based On ExperimentIBA:GO_Central
Vocalization behaviorManual Assertion Based On ExperimentIMP:BHF-UCL

Cell membrane
Cell junction, synapse
Detected at both glutamatergic and GABAergic synapses.

Autism, X-linked 1 (AUTSX1):
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 mental retardation.
Asperger syndrome, X-linked, 1 (ASPGX1):
A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.

Extracellular: 38-709
Helical: 710-730
Cytoplasmic: 731-848