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 Innate Immune System. 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 Summary 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.