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neuroligin-3; Gliotactin homolog (NLGN3, KIAA1480, NL3)
Function:
- neuronal cell surface protein
- thought to be involved in cell-cell-interactions by forming intercellular junctions through binding to beta-neurexins
- may play a role in formation or maintenance of synaptic junctions
- may also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system
- interacts with neurexin 1-beta, neurexin 2-beta & neurexin 3-beta (putative)
- probably interacts through its C-terminus with DLG4/PSD-95 3rd PDZ domain
Structure:
- belongs to the type-B carboxylesterase/lipase family
Compartment:
- membrane; single-pass type 1 membrane protein (putative)
Alternative splicing: named isoforms=2
Pathology:
- defects in NLGN3 may be the cause of
- susceptibility to autism X-linked type 1
- susceptibility to X-linked Asperger syndrome 1
Related
Asperger syndrome
autism (autistic spectrum disorder, ASD)
General
neuroligin
phosphoprotein
Properties
SIZE: entity length = 848 aa
MW = 94 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-37}
N-glycosylation site {N98}
cysteine residue {C106}
MODIFICATION: cysteine residue {C141}
cysteine residue {C141}
MODIFICATION: cysteine residue {C106}
cysteine residue {C340}
MODIFICATION: cysteine residue {C351}
cysteine residue {C351}
MODIFICATION: cysteine residue {C340}
cysteine residue {C510}
MODIFICATION: cysteine residue {C544}
cysteine residue {C544}
MODIFICATION: cysteine residue {C510}
N-glycosylation site {N545}
transmembrane domain {710-730}
Tyr phosphorylation site {Y792}
Database Correlations
OMIM correlations
UniProt Q9NZ94
Pfam PF00135
Entrez Gene 54413
Kegg hsa:54413
References
- UniProt :accession Q9NZ94
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NLGN3