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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