PDZ domain-containing RING finger protein 3; E3 ubiquitin-protein ligase PDZRN3; ligand of Numb protein X 3; semaphorin cytoplasmic domain-associated protein 3; protein SEMACAP3 (PDZRN3, KIAA1095, LNX3, SEMCAP3)

Function

• E3 ubiquitin-protein ligase
• role in regulating surface level of MUSK on myotubes
• mediates ubiquitination of MUSK, promoting its endocytosis & lysosomal degradation
• might contribute to terminal myogenic differentiation
• protein modification; protein ubiquitination
• auto-ubiquitinated (putative)
• interacts with NLGN1 & EFNB2 (putative)
• interacts with UBE2D2 & with MUSK via the first PDZ domain

Structure

• the RING-type Zn+2 finger domain is required for E3 ligase activity (putative)
• contains 2 PDZ domain (DHR domain)s
• contains 1 RING-type Zn+2 finger
• contains 1 TRAF-type Zn+2 finger

Alternative splicing

named isoforms=3

Expression

• widely expressed
• expressed in heart, skeletal muscle & liver > brain, colon, small intestine, placenta & lung

Pathology

• down-regulated in ovarian serous papillary tumors (ovarian cancer)

More general terms

• E3 ubiquitin ligase
• PDZ domain containing RING finger protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23024
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23024
• OMIM: https://mirror.omim.org/entry/609729
• UniProt: http://www.uniprot.org/uniprot/Q9UPQ7.html