InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NLGN3

Summary

InnateDB Protein

IDBP-75256.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NLGN3

Protein Name

neuroligin 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000363163

InnateDB Gene

IDBG-75254 (NLGN3)

Protein Structure

UniProt Annotation

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 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). {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Detected at both glutamatergic and GABAergic synapses. {ECO:0000250}.

Disease Associations

Autism, X-linked 1 (AUTSX1) [MIM:300425]: 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. {ECO:0000269PubMed:12669065}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Asperger syndrome, X-linked, 1 (ASPGX1) [MIM:300494]: 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. {ECO:0000269PubMed:12669065}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the blood vessel walls (at protein level). Detected in throughout the brain and in spinal cord. Detected in brain, and at lower levels in pancreas islet beta cells. {ECO:0000269PubMed:10767552, ECO:0000269PubMed:18755801, ECO:0000269PubMed:19926856}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0016787	hydrolase activity
GO:0042043	neurexin family protein binding
GO:0050839	cell adhesion molecule binding

Biological Process

GO:0002087	regulation of respiratory gaseous exchange by neurological system process
GO:0006898	receptor-mediated endocytosis
GO:0007158	neuron cell-cell adhesion
GO:0007416	synapse assembly
GO:0007612	learning
GO:0008152	metabolic process
GO:0030534	adult behavior
GO:0035176	social behavior
GO:0048675	axon extension
GO:0050804	regulation of synaptic transmission
GO:0050808	synapse organization
GO:0051965	positive regulation of synapse assembly
GO:0051968	positive regulation of synaptic transmission, glutamatergic
GO:0060024	rhythmic synaptic transmission
GO:0060080	regulation of inhibitory postsynaptic membrane potential
GO:0071625	vocalization behavior
GO:0097104	postsynaptic membrane assembly
GO:0097105	presynaptic membrane assembly
GO:2000463	positive regulation of excitatory postsynaptic membrane potential
GO:2000969	positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Cellular Component

GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0030054	cell junction
GO:0030139	endocytic vesicle
GO:0045202	synapse
GO:0060076	excitatory synapse