Recombinant Human E3 ubiquitin-protein ligase RNF19A (RNF19A), Truncated

Uniprot Id

Q9NV58

Target Species

Human

Target Name

RNF19A

Target Full Name

E3 ubiquitin-protein ligase RNF19A

Target 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.

Target Subcellular Location

Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=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.

Target Protein Families

RBR family, RNF19 subfamily

Target Tissue Specificity

Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system.

Target Synonyms

AA032313; DKFZP566B1346; Dorfin; Double ring finger protein; Double ring-finger protein; E3 ubiquitin-protein ligase RNF19A; p38; p38 protein; Ring finger protein 19; RING finger protein 19A; Ring IBR ring domain containing protein Dorfin; RN19A_HUMAN; RNF19; RNF19A; Ubce7ip2; UIP117; XYbp

Target Background

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.