RNF19A

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]

Full Name

Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase

Function

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.

Biological Process

Biological Process microtubule cytoskeleton organizationManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process positive regulation of proteasomal ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process protein polyubiquitinationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of protein catabolic process at postsynapse, modulating synaptic transmissionIEA:Ensembl
Biological Process ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Membrane
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Present in the hyaline inclusion bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients. Present in the Lewy bodies specifically found in neurons from Parkinson disease patients.