disks large homolog 3; synapse-associated protein 102; SAP-102; SAP102; neuroendocrine-DLG; XLMR (DLG3, KIAA1232)

Function

• required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling
• interacts through its PDZ domains with NETO1, GRIN2B & SYNGAP1
• interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 & DLGAP4 (putative)
• interacts through its PDZ domains with APC
• interacts through its first two PDZ domains with ERBB4
• interacts through its third PDZ domain with NLGN1, & probably with NLGN2 & NLGN3
• interacts with FRMPD4 (via C-terminus)

Structure

• belongs to the MAGUK family
• contains 1 guanylate kinase-like domain
• contains 3 PDZ domain (DHR domain)s
• contains 1 SH3 domain

Alternative splicing

named isoforms=2

Pathology

• defects in DLG3 are the cause of mental retardation X-linked type 90

More general terms

• scaffold protein
• phosphoprotein

Additional terms

• discs large homolog
• disks large-associated protein 1; DAP-1; guanylate kinase-associated protein; hGKAP; SAP90/PSD-95-associated protein 1; SAPAP1; PSD-95/SAP90-binding protein 1 (DLGAP1 DAP1 GKAP)
• drosophila discs large [dlg] protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1741
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1741
• OMIM: https://mirror.omim.org/entry/300189
• UniProt: http://www.uniprot.org/uniprot/Q92796.html