Human Gene RNF19A (ENST00000519449.5) from GENCODE V44
Description: Homo sapiens ring finger protein 19A, RBR E3 ubiquitin protein ligase (RNF19A), transcript variant 2, mRNA. (from RefSeq NM_015435) RefSeq Summary (NM_015435): 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]. Gencode Transcript: ENST00000519449.5 Gencode Gene: ENSG00000034677.13 Transcript (Including UTRs) Position: hg38 chr8:100,257,060-100,303,259 Size: 46,200 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr8:100,258,556-100,288,174 Size: 29,619 Coding Exon Count: 9
ID:RN19A_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase RNF19A; EC=6.3.2.-; AltName: Full=Double ring-finger protein; Short=Dorfin; AltName: Full=RING finger protein 19A; AltName: Full=p38; 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. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with UBE2L3 and UBE2L6. Interacts with transcription factor Sp1. Interacts with VCP, CASR, SNCAIP and with some SOD1 variants which cause amyotrophic lateral sclerosis, but not with wild-type SOD1. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytoskeleton, 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. TISSUE SPECIFICITY: Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Belongs to the RBR family. RNF19 subfamily. SIMILARITY: Contains 1 IBR-type zinc finger. SIMILARITY: Contains 2 RING-type zinc fingers. SEQUENCE CAUTION: Sequence=BAB14581.1; Type=Erroneous initiation; Sequence=BAB15647.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01485 - IBR domain, a half RING-finger domain
ModBase Predicted Comparative 3D Structure on Q9NV58
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004842 ubiquitin-protein transferase activity GO:0008134 transcription factor binding GO:0016740 transferase activity GO:0031624 ubiquitin conjugating enzyme binding GO:0046872 metal ion binding GO:0061630 ubiquitin protein ligase activity
Biological Process: GO:0000209 protein polyubiquitination GO:0000226 microtubule cytoskeleton organization GO:0016567 protein ubiquitination GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
AB029316 - Homo sapiens mRNA for ring-IBR-ring domain containing protein Dorfin, complete cds. BC093938 - Homo sapiens ring finger protein 19A, mRNA (cDNA clone MGC:120973 IMAGE:7939783), complete cds. BC093940 - Homo sapiens ring finger protein 19A, mRNA (cDNA clone MGC:120975 IMAGE:7939785), complete cds. KJ898566 - Synthetic construct Homo sapiens clone ccsbBroadEn_07960 RNF19A gene, encodes complete protein. AK001774 - Homo sapiens cDNA FLJ10912 fis, clone OVARC1000151, weakly similar to partial mRNA for putative protein p38 interacting with transcription factor Sp1. BC043648 - Homo sapiens ring finger protein 19A, mRNA (cDNA clone IMAGE:5277287), partial cds. AL110253 - Homo sapiens mRNA; cDNA DKFZp566B1346 (from clone DKFZp566B1346). AK023455 - Homo sapiens cDNA FLJ13393 fis, clone PLACE1001294, moderately similar to Mus musculus XY body protein (Xybp) mRNA. AL122096 - Homo sapiens mRNA; cDNA DKFZp434M1115 (from clone DKFZp434M1115). AK027070 - Homo sapiens cDNA: FLJ23417 fis, clone HEP20868. JD062935 - Sequence 43959 from Patent EP1572962. JD550855 - Sequence 531879 from Patent EP1572962. JD429376 - Sequence 410400 from Patent EP1572962. JD042571 - Sequence 23595 from Patent EP1572962. JD082233 - Sequence 63257 from Patent EP1572962. JD284864 - Sequence 265888 from Patent EP1572962. AJ242975 - Homo sapiens partial mRNA for putative protein p38 interacting with transcription factor Sp1. AK057699 - Homo sapiens cDNA FLJ33137 fis, clone UTERU1000077, moderately similar to GAMETOGENESIS EXPRESSED PROTEIN GEG-154. AB271913 - Homo sapiens RNF19 mRNA for RING finger protein 19 isoform, partial cds, isolate: RNF19-Iso1. AB271914 - Homo sapiens RNF19 mRNA for RING finger protein 19 isoform, partial cds, isolate: RNF19-Iso2. BC062676 - Homo sapiens ring finger protein 19, mRNA (cDNA clone IMAGE:6652005). BC105300 - Homo sapiens ring finger protein 19A, mRNA (cDNA clone IMAGE:6557603), partial cds. JD425859 - Sequence 406883 from Patent EP1572962. JD255722 - Sequence 236746 from Patent EP1572962. JD212177 - Sequence 193201 from Patent EP1572962. JD463274 - Sequence 444298 from Patent EP1572962. JD070979 - Sequence 52003 from Patent EP1572962. JD535506 - Sequence 516530 from Patent EP1572962. JD349153 - Sequence 330177 from Patent EP1572962. JD248820 - Sequence 229844 from Patent EP1572962. JD084920 - Sequence 65944 from Patent EP1572962. JD367668 - Sequence 348692 from Patent EP1572962. JD232931 - Sequence 213955 from Patent EP1572962. JD539445 - Sequence 520469 from Patent EP1572962. JD142625 - Sequence 123649 from Patent EP1572962. JD122100 - Sequence 103124 from Patent EP1572962. JD058058 - Sequence 39082 from Patent EP1572962. JD122099 - Sequence 103123 from Patent EP1572962. JD090011 - Sequence 71035 from Patent EP1572962. JD546521 - Sequence 527545 from Patent EP1572962. JD142218 - Sequence 123242 from Patent EP1572962. JD057687 - Sequence 38711 from Patent EP1572962. JD376164 - Sequence 357188 from Patent EP1572962. JD124052 - Sequence 105076 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NV58 (Reactome details) participates in the following event(s):
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System
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