Version 5.4
| Homo sapiens Protein: RBM20 | |||||||||||
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| Summary | |||||||||||
| InnateDB Protein | IDBP-89534.6 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | RBM20 | ||||||||||
| Protein Name | RNA binding motif protein 20 | ||||||||||
| Synonyms | |||||||||||
| Species | Homo sapiens | ||||||||||
| Ensembl Protein | ENSP00000358532 | ||||||||||
| InnateDB Gene | IDBG-89532 (RBM20) | ||||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||||
| Function | RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin). {ECO:0000269PubMed:22466703}. | ||||||||||
| Subcellular Localization | Nucleus {ECO:0000255PROSITE- ProRule:PRU00130}. | ||||||||||
| Disease Associations | Cardiomyopathy, dilated 1DD (CMD1DD) [MIM:613172]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:19712804, ECO:0000269PubMed:20590677, ECO:0000269PubMed:21846512, ECO:0000269PubMed:22466703}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||
| Tissue Specificity | Expressed in the heart. {ECO:0000269PubMed:19712804}. | ||||||||||
| Comments | |||||||||||
| Interactions | |||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||||||
| PDB ID | |||||||||||
| InterPro |
IPR000504
RNA recognition motif domain IPR000690 Zinc finger, C2H2-type matrin IPR003604 Zinc finger, U1-type |
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| PFAM |
PF00076
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| PRINTS | |||||||||||
| PIRSF | |||||||||||
| SMART |
SM00360
SM00451 |
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| TIGRFAMs | |||||||||||
| Post-translational Modifications | |||||||||||
| Modification | |||||||||||
| Cross-References | |||||||||||
| SwissProt | Q5T481 | ||||||||||
| PhosphoSite | PhosphoSite-Q5T481 | ||||||||||
| TrEMBL | |||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | 282996 | ||||||||||
| UniGene | Hs.742330 | ||||||||||
| RefSeq | NP_001127835 | ||||||||||
| HUGO | HGNC:27424 | ||||||||||
| OMIM | 613171 | ||||||||||
| CCDS | CCDS44477 | ||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| EMBL | AL136368 AL359260 EU822950 | ||||||||||
| GenPept | ACF49364 CAI16577 CAI40091 CAI40093 | ||||||||||