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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)

General

PDZ domain containing RING finger protein E3 ubiquitin ligase; ubiquitin-ligating enzyme E3; N end-recognizing protein

Properties

SIZE: MW = 120 kD entity length = 1066 aa MOTIF: Zinc finger NAME: Zinc finger SITE: 100-158 EFFECTOR-BOUND: Zn+2 PDZ domain NAME: PDZ domain SITE: 249-339 PDZ domain NAME: PDZ domain SITE: 419-503 coiled coil {679-704} coiled coil {975-1025}

Database Correlations

OMIM 609729 UniProt Q9UPQ7 Pfam PF00595 Entrez Gene 23024 Kegg hsa:23024

References

UniProt :accession Q9UPQ7