Description: Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA. RefSeq Summary (NM_181303): 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]. Transcript (Including UTRs) Position: hg19 chrX:70,364,681-70,391,051 Size: 26,371 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chrX:70,367,600-70,389,947 Size: 22,348 Coding Exon Count: 7
ID:NLGN3_HUMAN DESCRIPTION: RecName: Full=Neuroligin-3; AltName: Full=Gliotactin homolog; Flags: Precursor; 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). SUBUNIT: Interacts with NRXN1, NRXN2 and NRXN3. Interacts (via its C-terminus) with DLG4/PSD-95 (via PDZ domain 3) (By similarity). Homodimer, and heterodimer with NLGN1 and NLGN2 (By similarity). SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, synapse (By similarity). Note=Detected at both glutamatergic and GABAergic synapses (By similarity). 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. DISEASE: Defects in NLGN3 may be the cause of susceptibility to autism X-linked type 1 (AUTSX1) [MIM:300425]. AUTSX1 is a pervasive developmental disorder (PDD), prototypically 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. DISEASE: Defects in NLGN3 may be the cause of susceptibility to X- linked Asperger syndrome 1 (ASPGX1) [MIM:300494]. ASPGX1 is considered to be a form of childhood autism. SIMILARITY: Belongs to the type-B carboxylesterase/lipase family. SEQUENCE CAUTION: Sequence=AAF71231.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA96004.1; Type=Erroneous initiation; Sequence=BAC11226.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NLGN3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NZ94
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
