Homo sapiens Protein: PDZRN3
Summary
InnateDB Protein IDBP-45042.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PDZRN3
Protein Name PDZ domain containing ring finger 3
Synonyms LNX3; SEMACAP3;
Species Homo sapiens
Ensembl Protein ENSP00000263666
InnateDB Gene IDBG-45040 (PDZRN3)
Protein Structure
UniProt Annotation
Function E3 ubiquitin-protein ligase. Plays an important role in regulating the surface level of MUSK on myotubes. Mediates the ubiquitination of MUSK, promoting its endocytosis and lysosomal degradation. Might contribute to terminal myogenic differentiation (By similarity). {ECO:0000250}.
Subcellular Localization
Disease Associations
Tissue Specificity Widely expressed, including in the heart, skeletal muscle and liver and, at lower levels, in the brain, colon, small intestine, placenta and lung. Down-regulated in ovarian serous papillary tumors. {ECO:0000269PubMed:10470851, ECO:0000269PubMed:15305371, ECO:0000269PubMed:17118964}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0046872 metal ion binding
Biological Process
GO:0007528 neuromuscular junction development
GO:0016567 protein ubiquitination
Cellular Component
GO:0031594 neuromuscular junction
Protein Structure and Domains
PDB ID
InterPro IPR001293 Zinc finger, TRAF-type
IPR001478 PDZ domain
IPR001841 Zinc finger, RING-type
IPR008974 TRAF-like
IPR018957 Zinc finger, C3HC4 RING-type
PFAM PF00595
PF13180
PF13639
PF14634
PF00097
PRINTS
PIRSF
SMART SM00228
SM00184
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UPQ7
PhosphoSite PhosphoSite-Q9UPQ7
TrEMBL E7ENB6
UniProt Splice Variant
Entrez Gene 23024
UniGene Hs.434900
RefSeq NP_055824
HUGO HGNC:17704
OMIM 609729
CCDS CCDS33789
HPRD 15115
IMGT
EMBL AB029018 AC024102 AC103560 AC117489 AC119731 AK074573 AL157498 BC014432 BC152417
GenPept AAH14432 AAI52418 BAA83047 BAC11068 CAB75679