Aliases for RNF19A Gene
External Ids for RNF19A Gene
Previous HGNC Symbols for RNF19A Gene
Previous GeneCards Identifiers for RNF19A Gene
This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for RNF19A Gene
RNF19A (Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with RNF19A include Lateral Sclerosis and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Class I MHC mediated antigen processing and presentation and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. Gene Ontology (GO) annotations related to this gene include ligase activity and transcription factor binding. An important paralog of this gene is RNF19B.
UniProtKB/Swiss-Prot for RNF19A Gene
E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection.