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neuroligin-4, X-linked; neuroligin X; HNLX (NLGN4X, KIAA1260, NLGN4, UNQ365/PRO701)
Function:
- putative neuronal cell surface protein involved in cell-cell-interactions
- 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
Expression:
- expressed at highest levels in heart
- expressed at lower levels in liver, skeletal muscle & pancreas
- expressed at very low levels in brain
Pathology:
- defects in NLGN4X may be the cause
a) susceptibility to autism X-linked type 2
b) susceptibility to X-linked Asperger syndrome 2
Related
Asperger syndrome
autism (autistic spectrum disorder, ASD)
General
neuroligin
Properties
SIZE: entity length = 816 aa
MW = 92 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-41}
N-glycosylation site {N102}
cysteine residue {C110}
MODIFICATION: cysteine residue {C146}
cysteine residue {C146}
MODIFICATION: cysteine residue {C110}
cysteine residue {C306}
MODIFICATION: cysteine residue {C317}
cysteine residue {C317}
MODIFICATION: cysteine residue {C306}
cysteine residue {C476}
MODIFICATION: cysteine residue {C510}
cysteine residue {C510}
MODIFICATION: cysteine residue {C476}
N-glycosylation site {N511}
transmembrane domain {677-697}
Database Correlations
OMIM correlations
UniProt Q8N0W4
Pfam PF00135
Entrez Gene 57502
Kegg hsa:57502
References
- UniProt :accession Q8N0W4
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NLGN4X