Aliases for RNF19A Gene
- Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase 2 3
- Ring Finger Protein 19A, E3 Ubiquitin Protein Ligase 2 3
- Double Ring-Finger Protein 3 4
- Ring Finger Protein 19 2 3
- RNF19 3 4
- Protein P38 Interacting With Transcription Factor Sp1 3
- Ring-IBR-Ring Domain Containing Protein Dorfin 3
- E3 Ubiquitin-Protein Ligase RNF19A 3
External Ids for RNF19A Gene
Previous Symbols 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. Among its related pathways are Parkin-Ubiquitin Proteasomal System pathway and Parkin-Ubiquitin Proteasomal System pathway. GO annotations related to this gene include transcription factor binding and ligase activity. An important paralog of this gene is ANKIB1.
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.