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

More general terms

• cytoskeletal protein
• MAGUK p55 subfamily

Additional terms

• 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

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=58538
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:58538
• OMIM: https://mirror.omim.org/entry/606575
• UniProt: http://www.uniprot.org/uniprot/Q96JB8.html