MAGUK p55 subfamily member 4; membrane protein palmitoylated 4; MPP4 protein; discs large homolog 6; ALS 2 chromosomal region candidate gene 5 protein (MPP4, DLG6, ALS2CR5)

Function: - role in development of retinal photoreceptors (putative) - interacts with MPDZ, GRIA2 - forms complex with CRB1 & MPP - interacts with FASLG Structure: - belongs to the MAGUK family - contains 1 guanylate kinase-like domain - contains 2 L27 domains - contains 1 PDZ domain (DHR domain) - contains 1 SH3 domain Compartment: - cytoplasm - in retina: - outer limiting membrane, apical to the adherens junction - outer plexiform layer Alternative splicing: named isoforms=5 Expression: - expressed in the retina > brain, testis - isoform 5 is retina-specific

Related

amyotrophic lateral sclerosis [ALS] 2 chromosomal region candidate gene 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

General

cytoskeletal protein MAGUK p55 subfamily

Properties

SIZE: MW = 73 kD entity length = 637 aa COMPARTMENT: cytoplasm MOTIF: L27 1 {24-80} L27 2 {87-137} PDZ domain NAME: PDZ domain SITE: 154-235 src homology 3 [SH3] domain SITE: 242-312 domain {427-616} HOMOLOGY: guanylate kinase coiled coil {568-621}

Database Correlations

OMIM 606575 UniProt Q96JB8 PFAM correlations Entrez Gene 58538 Kegg hsa:58538

References

UniProt :accession Q96JB8