UniProtKB - Q5T481 (RBM20_HUMAN)
Protein
RNA-binding protein 20
Gene
RBM20
Organism
Homo sapiens (Human)
Status
Functioni
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).1 Publication
GO - Molecular functioni
- mRNA binding Source: GO_Central
- RNA binding Source: UniProtKB
- zinc ion binding Source: InterPro
GO - Biological processi
- heart development Source: UniProtKB
- mRNA processing Source: UniProtKB-KW
- positive regulation of RNA splicing Source: UniProtKB
- regulation of RNA splicing Source: GO_Central
- RNA splicing Source: UniProtKB-KW
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, mRNA splicing |
Enzyme and pathway databases
PathwayCommonsi | Q5T481 |
Names & Taxonomyi
Protein namesi | Recommended name: RNA-binding protein 20Alternative name(s): RNA-binding motif protein 20 |
Gene namesi | Name:RBM20 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:27424, RBM20 |
MIMi | 613171, gene |
neXtProti | NX_Q5T481 |
VEuPathDBi | HostDB:ENSG00000203867.7 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Cardiomyopathy, dilated 1DD (CMD1DD)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068802 | 535 | V → I in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs183007628EnsemblClinVar. | 1 | |
Natural variantiVAR_063092 | 634 | R → Q in CMD1DD. 2 PublicationsCorresponds to variant dbSNP:rs267607001EnsemblClinVar. | 1 | |
Natural variantiVAR_068803 | 634 | R → W in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs796734066EnsemblClinVar. | 1 | |
Natural variantiVAR_068804 | 635 | S → A in CMD1DD; causes the formation of anomalous isoforms in TTN (Titin). 1 Publication | 1 | |
Natural variantiVAR_068805 | 636 | R → C in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs267607002EnsemblClinVar. | 1 | |
Natural variantiVAR_063093 | 636 | R → H in CMD1DD. 2 PublicationsCorresponds to variant dbSNP:rs267607004EnsemblClinVar. | 1 | |
Natural variantiVAR_063094 | 636 | R → S in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs267607002EnsemblClinVar. | 1 | |
Natural variantiVAR_063095 | 637 | S → G in CMD1DD. 2 PublicationsCorresponds to variant dbSNP:rs267607005EnsemblClinVar. | 1 | |
Natural variantiVAR_063096 | 638 | P → L in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs267607003EnsemblClinVar. | 1 | |
Natural variantiVAR_068806 | 716 | R → Q in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs375798246EnsemblClinVar. | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease variantOrganism-specific databases
DisGeNETi | 282996 |
GeneReviewsi | RBM20 |
MalaCardsi | RBM20 |
MIMi | 613172, phenotype |
Orphaneti | 154, Familial isolated dilated cardiomyopathy |
PharmGKBi | PA134934622 |
Miscellaneous databases
Pharosi | Q5T481, Tbio |
Genetic variation databases
BioMutai | RBM20 |
DMDMi | 317373512 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000328824 | 1 – 1227 | RNA-binding protein 20Add BLAST | 1227 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 498 | PhosphoserineCombined sources | 1 | |
Modified residuei | 679 | PhosphoserineCombined sources | 1 | |
Modified residuei | 801 | PhosphoserineCombined sources | 1 | |
Modified residuei | 876 | PhosphoserineCombined sources | 1 | |
Modified residuei | 977 | PhosphoserineBy similarity | 1 | |
Modified residuei | 980 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1048 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1060 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1080 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1115 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1120 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q5T481 |
jPOSTi | Q5T481 |
MassIVEi | Q5T481 |
MaxQBi | Q5T481 |
PaxDbi | Q5T481 |
PeptideAtlasi | Q5T481 |
PRIDEi | Q5T481 |
ProteomicsDBi | 64438 |
PTM databases
iPTMneti | Q5T481 |
PhosphoSitePlusi | Q5T481 |
Expressioni
Tissue specificityi
Expressed in the heart.1 Publication
Gene expression databases
Bgeei | ENSG00000203867, Expressed in left ventricle myocardium and 152 other tissues |
Genevisiblei | Q5T481, HS |
Organism-specific databases
HPAi | ENSG00000203867, Tissue enhanced (heart muscle, skeletal muscle) |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 129433, 21 interactors |
IntActi | Q5T481, 4 interactors |
STRINGi | 9606.ENSP00000358532 |
Miscellaneous databases
RNActi | Q5T481, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 518 – 593 | RRMPROSITE-ProRule annotationAdd BLAST | 76 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 13 – 86 | Pro-richAdd BLAST | 74 | |
Compositional biasi | 843 – 931 | Glu-richAdd BLAST | 89 |
Phylogenomic databases
eggNOGi | ENOG502QW62, Eukaryota |
HOGENOMi | CLU_007364_0_0_1 |
InParanoidi | Q5T481 |
OrthoDBi | 1545178at2759 |
PhylomeDBi | Q5T481 |
TreeFami | TF333921 |
Family and domain databases
CDDi | cd12685, RRM_RBM20, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR000690, Matrin/U1-C_Znf_C2H2 IPR003604, Matrin/U1-like-C_Znf_C2H2 IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR034791, RBM20 IPR034790, RBM20_RRM IPR000504, RRM_dom |
PANTHERi | PTHR15592:SF11, PTHR15592:SF11, 1 hit |
SMARTi | View protein in SMART SM00360, RRM, 1 hit SM00451, ZnF_U1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit PS50171, ZF_MATRIN, 1 hit |
i Sequence
Sequence statusi: Complete.
Q5T481-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVLAAAMSQD ADPSGPEQPD RVACSVPGAR ASPAPSGPRG MQQPPPPPQP
60 70 80 90 100
PPPPQAGLPQ IIQNAAKLLD KNPFSVSNPN PLLPSPASLQ LAQLQAQLTL
110 120 130 140 150
HRLKLAQTAV TNNTAAATVL NQVLSKVAMS QPLFNQLRHP SVITGPHGHA
160 170 180 190 200
GVPQHAAAIP STRFPSNAIA FSPPSQTRGP GPSMNLPNQP PSAMVMHPFT
210 220 230 240 250
GVMPQTPGQP AVILGIGKTG PAPATAGFYE YGKASSGQTY GPETDGQPGF
260 270 280 290 300
LPSSASTSGS VTYEGHYSHT GQDGQAAFSK DFYGPNSQGS HVASGFPAEQ
310 320 330 340 350
AGGLKSEVGP LLQGTNSQWE SPHGFSGQSK PDLTAGPMWP PPHNQPYELY
360 370 380 390 400
DPEEPTSDRT PPSFGGRLNN SKQGFIGAGR RAKEDQALLS VRPLQAHELN
410 420 430 440 450
DFHGVAPLHL PHICSICDKK VFDLKDWELH VKGKLHAQKC LVFSENAGIR
460 470 480 490 500
CILGSAEGTL CASPNSTAVY NPAGNEDYAS NLGTSYVPIP ARSFTQSSPT
510 520 530 540 550
FPLASVGTTF AQRKGAGRVV HICNLPEGSC TENDVINLGL PFGKVTNYIL
560 570 580 590 600
MKSTNQAFLE MAYTEAAQAM VQYYQEKSAV INGEKLLIRM SKRYKELQLK
610 620 630 640 650
KPGKAVAAII QDIHSQRERD MFREADRYGP ERPRSRSPVS RSLSPRSHTP
660 670 680 690 700
SFTSCSSSHS PPGPSRADWG NGRDSWEHSP YARREEERDP APWRDNGDDK
710 720 730 740 750
RDRMDPWAHD RKHHPRQLDK AELDERPEGG RPHREKYPRS GSPNLPHSVS
760 770 780 790 800
SYKSREDGYY RKEPKAKWDK YLKQQQDAPG RSRRKDEARL RESRHPHPDD
810 820 830 840 850
SGKEDGLGPK VTRAPEGAKA KQNEKNKTKR TDRDQEGADD RKENTMAENE
860 870 880 890 900
AGKEEQEGME ESPQSVGRQE KEAEFSDPEN TRTKKEQDWE SESEAEGESW
910 920 930 940 950
YPTNMEELVT VDEVGEEEDF IVEPDIPELE EIVPIDQKDK ICPETCLCVT
960 970 980 990 1000
TTLDLDLAQD FPKEGVKAVG NGAAEISLKS PRELPSASTS CPSDMDVEMP
1010 1020 1030 1040 1050
GLNLDAERKP AESETGLSLE DSDCYEKEAK GVESSDVHPA PTVQQMSSPK
1060 1070 1080 1090 1100
PAEERARQPS PFVDDCKTRG TPEDGACEGS PLEEKASPPI ETDLQNQACQ
1110 1120 1130 1140 1150
EVLTPENSRY VEMKSLEVRS PEYTEVELKQ PLSLPSWEPE DVFSELSIPL
1160 1170 1180 1190 1200
GVEFVVPRTG FYCKLCGLFY TSEETAKMSH CRSAVHYRNL QKYLSQLAEE
1210 1220
GLKETEGADS PRPEDSGIVP RFERKKL
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042532 | 173 | P → T. Corresponds to variant dbSNP:rs7908490EnsemblClinVar. | 1 | |
Natural variantiVAR_068802 | 535 | V → I in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs183007628EnsemblClinVar. | 1 | |
Natural variantiVAR_063092 | 634 | R → Q in CMD1DD. 2 PublicationsCorresponds to variant dbSNP:rs267607001EnsemblClinVar. | 1 | |
Natural variantiVAR_068803 | 634 | R → W in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs796734066EnsemblClinVar. | 1 | |
Natural variantiVAR_068804 | 635 | S → A in CMD1DD; causes the formation of anomalous isoforms in TTN (Titin). 1 Publication | 1 | |
Natural variantiVAR_068805 | 636 | R → C in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs267607002EnsemblClinVar. | 1 | |
Natural variantiVAR_063093 | 636 | R → H in CMD1DD. 2 PublicationsCorresponds to variant dbSNP:rs267607004EnsemblClinVar. | 1 | |
Natural variantiVAR_063094 | 636 | R → S in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs267607002EnsemblClinVar. | 1 | |
Natural variantiVAR_063095 | 637 | S → G in CMD1DD. 2 PublicationsCorresponds to variant dbSNP:rs267607005EnsemblClinVar. | 1 | |
Natural variantiVAR_063096 | 638 | P → L in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs267607003EnsemblClinVar. | 1 | |
Natural variantiVAR_068806 | 716 | R → Q in CMD1DD. 1 PublicationCorresponds to variant dbSNP:rs375798246EnsemblClinVar. | 1 | |
Natural variantiVAR_042533 | 768 | W → S. Corresponds to variant dbSNP:rs1417635Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EU822950 mRNA Translation: ACF49364.1 AL136368 Genomic DNA No translation available. AL359260 Genomic DNA No translation available. |
CCDSi | CCDS44477.1 |
RefSeqi | NP_001127835.2, NM_001134363.2 |
Genome annotation databases
Ensembli | ENST00000369519; ENSP00000358532; ENSG00000203867 |
GeneIDi | 282996 |
KEGGi | hsa:282996 |
UCSCi | uc001kzf.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | EU822950 mRNA Translation: ACF49364.1 AL136368 Genomic DNA No translation available. AL359260 Genomic DNA No translation available. |
CCDSi | CCDS44477.1 |
RefSeqi | NP_001127835.2, NM_001134363.2 |
3D structure databases
SMRi | Q5T481 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 129433, 21 interactors |
IntActi | Q5T481, 4 interactors |
STRINGi | 9606.ENSP00000358532 |
PTM databases
iPTMneti | Q5T481 |
PhosphoSitePlusi | Q5T481 |
Genetic variation databases
BioMutai | RBM20 |
DMDMi | 317373512 |
Proteomic databases
EPDi | Q5T481 |
jPOSTi | Q5T481 |
MassIVEi | Q5T481 |
MaxQBi | Q5T481 |
PaxDbi | Q5T481 |
PeptideAtlasi | Q5T481 |
PRIDEi | Q5T481 |
ProteomicsDBi | 64438 |
Protocols and materials databases
Antibodypediai | 50051, 99 antibodies |
Genome annotation databases
Ensembli | ENST00000369519; ENSP00000358532; ENSG00000203867 |
GeneIDi | 282996 |
KEGGi | hsa:282996 |
UCSCi | uc001kzf.2, human |
Organism-specific databases
CTDi | 282996 |
DisGeNETi | 282996 |
GeneCardsi | RBM20 |
GeneReviewsi | RBM20 |
HGNCi | HGNC:27424, RBM20 |
HPAi | ENSG00000203867, Tissue enhanced (heart muscle, skeletal muscle) |
MalaCardsi | RBM20 |
MIMi | 613171, gene 613172, phenotype |
neXtProti | NX_Q5T481 |
Orphaneti | 154, Familial isolated dilated cardiomyopathy |
PharmGKBi | PA134934622 |
VEuPathDBi | HostDB:ENSG00000203867.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QW62, Eukaryota |
HOGENOMi | CLU_007364_0_0_1 |
InParanoidi | Q5T481 |
OrthoDBi | 1545178at2759 |
PhylomeDBi | Q5T481 |
TreeFami | TF333921 |
Enzyme and pathway databases
PathwayCommonsi | Q5T481 |
Miscellaneous databases
BioGRID-ORCSi | 282996, 9 hits in 997 CRISPR screens |
ChiTaRSi | RBM20, human |
GenomeRNAii | 282996 |
Pharosi | Q5T481, Tbio |
PROi | PR:Q5T481 |
RNActi | Q5T481, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000203867, Expressed in left ventricle myocardium and 152 other tissues |
Genevisiblei | Q5T481, HS |
Family and domain databases
CDDi | cd12685, RRM_RBM20, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR000690, Matrin/U1-C_Znf_C2H2 IPR003604, Matrin/U1-like-C_Znf_C2H2 IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR034791, RBM20 IPR034790, RBM20_RRM IPR000504, RRM_dom |
PANTHERi | PTHR15592:SF11, PTHR15592:SF11, 1 hit |
SMARTi | View protein in SMART SM00360, RRM, 1 hit SM00451, ZnF_U1, 2 hits |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit PS50171, ZF_MATRIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RBM20_HUMAN | |
Accessioni | Q5T481Primary (citable) accession number: Q5T481 Secondary accession number(s): A6NIP5, B5A868, Q5JVI1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 8, 2008 |
Last sequence update: | January 11, 2011 | |
Last modified: | April 7, 2021 | |
This is version 124 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot