Entity Details

Primary name RBM20_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5T481
EntryNameRBM20_HUMAN
FullNameRNA-binding protein 20
TaxID9606
Evidenceevidence at protein level
Length1227
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesRBM20

GO terms

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GOName
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005634 nucleus
GO:0006397 mRNA processing
GO:0007507 heart development
GO:0008270 zinc ion binding
GO:0008380 RNA splicing
GO:0033120 positive regulation of RNA splicing
GO:0043484 regulation of RNA splicing

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000504 RNA recognition motif domainDomainDomain
IPR000690 Matrin/U1-C, C2H2-type zinc fingerDomainDomain
IPR003604 Matrin/U1-C-like, C2H2-type zinc fingerDomainDomain
IPR012677 Nucleotide-binding alpha-beta plait domain superfamilyFamilyHomologous superfamily
IPR034790 RBM20, RNA recognition motifDomainDomain
IPR034791 RNA-binding protein 20FamilyFamily
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613172 OMIMCardiomyopathy, dilated 1DD (CMD1DD)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.