| 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
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 2.0e-09 |
| acute quadriplegic myopathy | 1158 | 1.9e-05 |
| psoriasis | 6694 | 1.2e-04 |
| medulloblastoma, large-cell | 6241 | 4.5e-03 |
| ependymoma | 4679 | 4.6e-03 |
| ovarian cancer | 8520 | 4.9e-03 |
| invasive ductal carcinoma | 2951 | 9.7e-03 |
| osteosarcoma | 7950 | 1.2e-02 |
| astrocytic glioma | 2597 | 1.5e-02 |
| oligodendroglioma | 2850 | 2.7e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Heart conduction disease | 83 | 0.0 | 0.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Amyotrophic lateral sclerosis | 451 | 4.265 | 2.1 |
| Parkinson's disease | 392 | 3.351 | 1.7 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.166 | 1.9e-05 |
| astrocytic glioma | 1.500 | 1.5e-02 |
| ependymoma | 1.800 | 4.6e-03 |
| invasive ductal carcinoma | 1.100 | 9.7e-03 |
| juvenile dermatomyositis | 1.183 | 2.0e-09 |
| medulloblastoma, large-cell | -1.400 | 4.5e-03 |
| oligodendroglioma | 1.200 | 2.7e-02 |
| osteosarcoma | 1.115 | 1.2e-02 |
| ovarian cancer | 1.600 | 4.9e-03 |
| psoriasis | -1.400 | 1.2e-04 |
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 //
