Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

RNA-binding protein 20

Gene

RBM20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

  • heart development Source: UniProtKB
  • mRNA processing Source: UniProtKB-KW
  • positive regulation of RNA splicing Source: UniProtKB
  • RNA splicing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
RNA-binding protein 20
Alternative name(s):
RNA-binding motif protein 20
Gene namesi
Name:RBM20
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:27424. RBM20.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1DD (CMD1DD)4 Publications
The disease is caused by mutations 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.
See also OMIM:613172
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti535 – 5351V → I in CMD1DD. 1 Publication
Corresponds to variant rs183007628 [ dbSNP | Ensembl ].
VAR_068802
Natural varianti634 – 6341R → Q in CMD1DD. 2 Publications
VAR_063092
Natural varianti634 – 6341R → W in CMD1DD. 1 Publication
VAR_068803
Natural varianti635 – 6351S → A in CMD1DD; causes the formation of anomalous isoforms in TTN (Titin). 1 Publication
VAR_068804
Natural varianti636 – 6361R → C in CMD1DD. 1 Publication
VAR_068805
Natural varianti636 – 6361R → H in CMD1DD. 2 Publications
VAR_063093
Natural varianti636 – 6361R → S in CMD1DD. 1 Publication
VAR_063094
Natural varianti637 – 6371S → G in CMD1DD. 2 Publications
VAR_063095
Natural varianti638 – 6381P → L in CMD1DD. 1 Publication
VAR_063096
Natural varianti716 – 7161R → Q in CMD1DD. 1 Publication
VAR_068806

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MalaCardsiRBM20.
MIMi613172. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA134934622.

Polymorphism and mutation databases

BioMutaiRBM20.
DMDMi317373512.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12271227RNA-binding protein 20PRO_0000328824Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei977 – 9771PhosphoserineBy similarity
Modified residuei1048 – 10481PhosphoserineBy similarity
Modified residuei1080 – 10801PhosphoserineBy similarity
Modified residuei1115 – 11151PhosphoserineBy similarity
Modified residuei1120 – 11201PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T481.
MaxQBiQ5T481.
PaxDbiQ5T481.
PRIDEiQ5T481.

PTM databases

iPTMnetiQ5T481.
PhosphoSiteiQ5T481.

Expressioni

Tissue specificityi

Expressed in the heart.1 Publication

Gene expression databases

BgeeiQ5T481.
CleanExiHS_RBM20.
GenevisibleiQ5T481. HS.

Organism-specific databases

HPAiHPA035806.
HPA037703.

Interactioni

Protein-protein interaction databases

BioGridi129433. 1 interaction.
IntActiQ5T481. 1 interaction.
STRINGi9606.ENSP00000358532.

Structurei

3D structure databases

ProteinModelPortaliQ5T481.
SMRiQ5T481. Positions 518-598.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini518 – 59376RRMPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi13 – 8674Pro-richAdd
BLAST
Compositional biasi843 – 93189Glu-richAdd
BLAST

Sequence similaritiesi

Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IGBX. Eukaryota.
ENOG410ZE4G. LUCA.
HOGENOMiHOG000072583.
HOVERGENiHBG108397.
InParanoidiQ5T481.
OrthoDBiEOG7060Q2.
PhylomeDBiQ5T481.
TreeFamiTF333921.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
IPR000690. Znf_C2H2_matrin.
IPR003604. Znf_U1.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
SM00451. ZnF_U1. 2 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50102. RRM. 1 hit.
PS50171. ZF_MATRIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5T481-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,227
Mass (Da):134,357
Last modified:January 11, 2011 - v3
Checksum:i19C64D887C6288D7
GO

Sequence cautioni

The sequence CAI16577.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI40091.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI40093.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti173 – 1731P → T.
Corresponds to variant rs7908490 [ dbSNP | Ensembl ].
VAR_042532
Natural varianti535 – 5351V → I in CMD1DD. 1 Publication
Corresponds to variant rs183007628 [ dbSNP | Ensembl ].
VAR_068802
Natural varianti634 – 6341R → Q in CMD1DD. 2 Publications
VAR_063092
Natural varianti634 – 6341R → W in CMD1DD. 1 Publication
VAR_068803
Natural varianti635 – 6351S → A in CMD1DD; causes the formation of anomalous isoforms in TTN (Titin). 1 Publication
VAR_068804
Natural varianti636 – 6361R → C in CMD1DD. 1 Publication
VAR_068805
Natural varianti636 – 6361R → H in CMD1DD. 2 Publications
VAR_063093
Natural varianti636 – 6361R → S in CMD1DD. 1 Publication
VAR_063094
Natural varianti637 – 6371S → G in CMD1DD. 2 Publications
VAR_063095
Natural varianti638 – 6381P → L in CMD1DD. 1 Publication
VAR_063096
Natural varianti716 – 7161R → Q in CMD1DD. 1 Publication
VAR_068806
Natural varianti768 – 7681W → S.
Corresponds to variant rs1417635 [ dbSNP | Ensembl ].
VAR_042533

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU822950 mRNA. Translation: ACF49364.1.
AL359260, AL136368 Genomic DNA. Translation: CAI16577.1. Sequence problems.
AL136368 Genomic DNA. Translation: CAI40091.1. Sequence problems.
AL136368, AL359260 Genomic DNA. Translation: CAI40093.1. Sequence problems.
CCDSiCCDS44477.1.
RefSeqiNP_001127835.2. NM_001134363.2.
UniGeneiHs.116630.

Genome annotation databases

EnsembliENST00000369519; ENSP00000358532; ENSG00000203867.
GeneIDi282996.
KEGGihsa:282996.
UCSCiuc001kzf.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU822950 mRNA. Translation: ACF49364.1.
AL359260, AL136368 Genomic DNA. Translation: CAI16577.1. Sequence problems.
AL136368 Genomic DNA. Translation: CAI40091.1. Sequence problems.
AL136368, AL359260 Genomic DNA. Translation: CAI40093.1. Sequence problems.
CCDSiCCDS44477.1.
RefSeqiNP_001127835.2. NM_001134363.2.
UniGeneiHs.116630.

3D structure databases

ProteinModelPortaliQ5T481.
SMRiQ5T481. Positions 518-598.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129433. 1 interaction.
IntActiQ5T481. 1 interaction.
STRINGi9606.ENSP00000358532.

PTM databases

iPTMnetiQ5T481.
PhosphoSiteiQ5T481.

Polymorphism and mutation databases

BioMutaiRBM20.
DMDMi317373512.

Proteomic databases

EPDiQ5T481.
MaxQBiQ5T481.
PaxDbiQ5T481.
PRIDEiQ5T481.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369519; ENSP00000358532; ENSG00000203867.
GeneIDi282996.
KEGGihsa:282996.
UCSCiuc001kzf.2. human.

Organism-specific databases

CTDi282996.
GeneCardsiRBM20.
GeneReviewsiRBM20.
HGNCiHGNC:27424. RBM20.
HPAiHPA035806.
HPA037703.
MalaCardsiRBM20.
MIMi613171. gene.
613172. phenotype.
neXtProtiNX_Q5T481.
Orphaneti154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA134934622.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGBX. Eukaryota.
ENOG410ZE4G. LUCA.
HOGENOMiHOG000072583.
HOVERGENiHBG108397.
InParanoidiQ5T481.
OrthoDBiEOG7060Q2.
PhylomeDBiQ5T481.
TreeFamiTF333921.

Miscellaneous databases

ChiTaRSiRBM20. human.
GenomeRNAii282996.
NextBioi93561.
PROiQ5T481.
SOURCEiSearch...

Gene expression databases

BgeeiQ5T481.
CleanExiHS_RBM20.
GenevisibleiQ5T481. HS.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
IPR000690. Znf_C2H2_matrin.
IPR003604. Znf_U1.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
SM00451. ZnF_U1. 2 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50102. RRM. 1 hit.
PS50171. ZF_MATRIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, VARIANT CMD1DD ALA-635, CHARACTERIZATION OF VARIANT CMD1DD ALA-635.
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy."
    Brauch K.M., Karst M.L., Herron K.J., de Andrade M., Pellikka P.A., Rodeheffer R.J., Michels V.V., Olson T.M.
    J. Am. Coll. Cardiol. 54:930-941(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, VARIANTS CMD1DD GLN-634; HIS-636; SER-636; GLY-637 AND LEU-638.
  4. "Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy."
    Li D., Morales A., Gonzalez-Quintana J., Norton N., Siegfried J.D., Hofmeyer M., Hershberger R.E.
    Clin. Transl. Sci. 3:90-97(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMD1DD ILE-535; TRP-634; GLN-634; CYS-636; HIS-636 AND GLN-716.
  5. Cited for: VARIANT CMD1DD GLY-637.

Entry informationi

Entry nameiRBM20_HUMAN
AccessioniPrimary (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: May 11, 2016
This is version 92 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.