| Tbio | E3 ubiquitin-protein ligase RNF19A |
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.
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]
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]
Comments
Property Summary
| NCBI Gene PubMed Count | 18 |
| Grant Count | 1 |
| Funding | $15,000 |
| PubMed Score | 15.30 |
| PubTator Score | 9.17 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | 1.500 | 0.015 |
| ependymoma | 1.800 | 0.005 |
| oligodendroglioma | 1.200 | 0.027 |
| psoriasis | -1.400 | 0.000 |
| osteosarcoma | 1.115 | 0.012 |
| medulloblastoma, large-cell | -1.400 | 0.005 |
| juvenile dermatomyositis | 1.183 | 0.000 |
| acute quadriplegic myopathy | 1.166 | 0.000 |
| invasive ductal carcinoma | 1.100 | 0.010 |
| ovarian cancer | 1.600 | 0.005 |
| PMID | Text |
|---|---|
| 22493721 | A more than 2-fold higher level of RNF19A mRNA in the blood of patients with prostate cancer than in healthy controls makes it an early diagnosis marker for this disease. |
| 22082156 | Knockdown of ring finger protein 19A, E3 ubiquitin protein ligase (RNF19A) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N |
| 18721867 | Findings suggest that RNF19 has acquired a new promoter and alternative exons via continuous retrotransposition. |
| 17157513 | Dorfin-CHIP(L) rescued neuronal cells from mutant SOD1-associated toxicity and reduced the aggresome formation induced by mutant SOD1 more effectively than did Dorfin(WT). |
| 15456787 | Valosin-containing protein functionally regulates Dorfin through direct interaction |
| 15030390 | Reducing the accumulation of mutant superoxide dismutase 1 [SOD1] in the mitochondria may be a new therapeutic strategy for mutant SOD1-associated familial amyotrophic lateral sclerosis, and Dorfin may play a significant role in this |
| 12875980 | These results suggest that Dorfin plays a crucial role in the formation of ubiquitylated inclusions of alpha-synucleinopathy and amyotrophic lateral sclerosis. |
| 12750386 | results suggest that synphilin-1 has an important role in the formation of aggregates and cytotoxicity in Parkinson disease and that Dorfin may be involved in the pathogenic process by ubiquitylation of synphilin-1 |
| 12145308 | Dorfin has a role in ubiquitylating mutant SOD1 proteins and targeting them for proteasomal degradation |
MQEQEIGFISKYNEGLCVNTDPVSILTSILDMSLHRQMGSDRDLQSSASSVSLPSVKKAPKKRRISIGSL 1 - 70 FRRKKDNKRKSRELNGGVDGIASIESIHSEMCTDKNSIFSTNTSSDNGLTSISKQIGDFIECPLCLLRHS 71 - 140 KDRFPDIMTCHHRSCVDCLRQYLRIEISESRVNISCPECTERFNPHDIRLILSDDVLMEKYEEFMLRRWL 141 - 210 VADPDCRWCPAPDCGYAVIAFGCASCPKLTCGREGCGTEFCYHCKQIWHPNQTCDAARQERAQSLRLRTI 211 - 280 RSSSISYSQESGAAADDIKPCPRCAAYIIKMNDGSCNHMTCAVCGCEFCWLCMKEISDLHYLSPSGCTFW 281 - 350 GKKPWSRKKKILWQLGTLVGAPVGIALIAGIAIPAMIIGIPVYVGRKIHNRYEGKDVSKHKRNLAIAGGV 351 - 420 TLSVIVSPVVAAVTVGIGVPIMLAYVYGVVPISLCRSGGCGVSAGNGKGVRIEFDDENDINVGGTNTAVD 421 - 490 TTSVAEARHNPSIGEGSVGGLTGSLSASGSHMDRIGAIRDNLSETASTMALAGASITGSLSGSAMVNCFN 491 - 560 RLEVQADVQKERYSLSGESGTVSLGTVSDNASTKAMAGSILNSYIPLDKEGNSMEVQVDIESKPSKFRHN 561 - 630 SGSSSVDDGSATRSHAGGSSSGLPEGKSSATKWSKEATAGKKSKSGKLRKKGNMKINETREDMDAQLLEQ 631 - 700 QSTNSSEFEAPSLSDSMPSVADSHSSHFSEFSCSDLESMKTSCSHGSSDYHTRFATVNILPEVENDRLEN 701 - 770 SPHQCSISVVTQTASCSEVSQLNHIAEEHGNNGIKPNVDLYFGDALKETNNNHSHQTMELKVAIQTEI 771 - 838 //
| PMID | Year | Title |
|---|---|---|
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 22493721 | 2012 | Averaged differential expression for the discovery of biomarkers in the blood of patients with prostate cancer. |
| 21406692 | 2011 | System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. |
| 21041692 | 2010 | Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. |
| 20068231 | 2010 | Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. |
| 19028597 | 2009 | Maturation of human dendritic cells is accompanied by functional remodelling of the ubiquitin-proteasome system. |
| 18721867 | 2008 | Cooperative exonization of MaLR and AluJo elements contributed an alternative promoter and novel splice variants of RNF19. |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. |
| 17157513 | 2007 | Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity. |
| 16513638 | 2006 | Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin. |
| More... |
