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Protein

RNA-binding protein 24

Gene

RBM24

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

Functioni

Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation (PubMed:20977548, PubMed:24375645, PubMed:29358667, PubMed:29104163). Plays a major role in pre-mRNA alternative splicing regulation (PubMed:26990106, PubMed:29104163). Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation (PubMed:29104163). Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes (PubMed:26990106). Plays a role in the regulation of mRNA stability (PubMed:20977548, PubMed:24356969, PubMed:24375645, PubMed:29104163). Binds to 3'-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities (PubMed:20977548, PubMed:24356969). Involved in myogenic differentiation by regulating MYOG levels (PubMed:20977548). Binds to multiple regions in the mRNA 3'-UTR of TP63 isoform 2, hence inducing its destabilization (PubMed:24375645). Promotes also the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence (PubMed:29104163). Plays a role in the regulation of mRNA translation (PubMed:29358667). Mediates repression of p53/TP53 mRNA translation through its binding to U-rich element in the 3'-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation (PubMed:29358667). Binds to a huge amount of mRNAs (PubMed:29104163). Required for embryonic heart development, sarcomer and M-band formation in striated muscles (By similarity).By similarity6 Publications

GO - Molecular functioni

  • mRNA 3'-UTR AU-rich region binding Source: UniProtKB
  • mRNA 3'-UTR binding Source: UniProtKB
  • mRNA CDS binding Source: UniProtKB
  • pre-mRNA intronic binding Source: UniProtKB
  • sequence-specific mRNA binding Source: UniProtKB

GO - Biological processi

  • 3'-UTR-mediated mRNA destabilization Source: UniProtKB
  • cell differentiation Source: UniProtKB-KW
  • cellular response to DNA damage stimulus Source: UniProtKB
  • endocardial cushion development Source: Ensembl
  • mRNA destabilization Source: UniProtKB
  • mRNA processing Source: UniProtKB-KW
  • mRNA stabilization Source: UniProtKB
  • negative regulation of cytoplasmic translation Source: UniProtKB
  • positive regulation of 3'-UTR-mediated mRNA stabilization Source: UniProtKB
  • positive regulation of myoblast differentiation Source: UniProtKB
  • positive regulation of myotube differentiation Source: UniProtKB
  • positive regulation of skeletal muscle fiber differentiation Source: UniProtKB
  • positive regulation of stem cell differentiation Source: UniProtKB
  • regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
  • regulation of mRNA stability Source: UniProtKB
  • regulation of myotube differentiation Source: UniProtKB
  • RNA splicing Source: UniProtKB-KW

Keywordsi

Molecular functionRNA-binding
Biological processDifferentiation, mRNA processing, mRNA splicing, Translation regulation

Names & Taxonomyi

Protein namesi
Recommended name:
RNA-binding protein 24Curated
Alternative name(s):
RNA-binding motif protein 241 Publication
RNA-binding region-containing protein 6
Gene namesi
Name:RBM24Imported
Synonyms:RNPC6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112183.14
HGNCiHGNC:21539 RBM24
MIMi617603 gene
neXtProtiNX_Q9BX46

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi181S → A: Decreases p53/TP53 expression. 1 Publication1
Mutagenesisi181S → D: Increases p53/TP53 expression. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000112183
PharmGKBiPA134964569

Polymorphism and mutation databases

BioMutaiRBM24
DMDMi74761312

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002733701 – 236RNA-binding protein 24Add BLAST236

Proteomic databases

EPDiQ9BX46
MaxQBiQ9BX46
PaxDbiQ9BX46
PeptideAtlasiQ9BX46
PRIDEiQ9BX46
ProteomicsDBi79347
79348 [Q9BX46-2]

PTM databases

iPTMnetiQ9BX46
PhosphoSitePlusiQ9BX46

Expressioni

Tissue specificityi

Expressed in fetal and adult heart and skeletal muscles (PubMed:22345307, PubMed:25313962).2 Publications

Inductioni

By p53/TP53 following DNA damage (at protein level) (PubMed:24356969). Up-regulated during embryonic stem cell (ESC) differentiation into cardiomyocytes (PubMed:19658189, PubMed:26990106).3 Publications

Gene expression databases

BgeeiENSG00000112183
CleanExiHS_RBM24
ExpressionAtlasiQ9BX46 baseline and differential
GenevisibleiQ9BX46 HS

Organism-specific databases

HPAiHPA066927
HPA067231

Interactioni

Subunit structurei

Interacts with EIF4E; this interaction prevents EIF4E from binding to p53/TP53 mRNA and inhibits the assembly of translation initiation complex (PubMed:29358667).1 Publication

Protein-protein interaction databases

BioGridi128744, 29 interactors
IntActiQ9BX46, 6 interactors
STRINGi9606.ENSP00000368341

Structurei

3D structure databases

ProteinModelPortaliQ9BX46
SMRiQ9BX46
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 88RRMPROSITE-ProRule annotationAdd BLAST78

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni175 – 199Necessary for interaction with EIF4E1 PublicationAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi141 – 221Ala-richAdd BLAST81

Domaini

The RRM domain is necessary for mRNA stability and mRNA translation regulation (PubMed:24356969, PubMed:29358667).2 Publications

Phylogenomic databases

eggNOGiKOG0149 Eukaryota
ENOG4111PGT LUCA
GeneTreeiENSGT00390000002308
HOGENOMiHOG000276232
HOVERGENiHBG108399
InParanoidiQ9BX46
OMAiATSPYID
OrthoDBiEOG091G13K0
PhylomeDBiQ9BX46
TreeFamiTF314235

Family and domain databases

Gene3Di3.30.70.330, 1 hit
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SUPFAMiSSF54928 SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BX46-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHTTQKDTTY TKIFVGGLPY HTTDASLRKY FEVFGEIEEA VVITDRQTGK
60 70 80 90 100
SRGYGFVTMA DRAAAERACK DPNPIIDGRK ANVNLAYLGA KPRIMQPGFA
110 120 130 140 150
FGVQQLHPAL IQRPFGIPAH YVYPQAFVQP GVVIPHVQPT AAAASTTPYI
160 170 180 190 200
DYTGAAYAQY SAAAAAAAAA AAYDQYPYAA SPAAAGYVTA GGYGYAVQQP
210 220 230
ITAAAPGTAA AAAAAAAAAA AFGQYQPQQL QTDRMQ
Length:236
Mass (Da):24,776
Last modified:June 1, 2001 - v1
Checksum:i1CFB5AEBD4E3AA24
GO
Isoform 2 (identifier: Q9BX46-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: MHTTQKDTTYTKIFVGGLPYHTTDASLRKYFEVFGEIEEAVVITDRQTGKSRGYGF → MYVCLCVSVAK

Show »
Length:191
Mass (Da):19,599
Checksum:i89E4D14E3DA941F7
GO
Isoform 3 (identifier: Q9BX46-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.

Note: Gene prediction based on EST data.
Show »
Length:178
Mass (Da):18,202
Checksum:iC2FD4D1937F1EBBC
GO

Sequence cautioni

The sequence BAC04474 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti144A → D in BAC04474 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0467751 – 58Missing in isoform 3. CuratedAdd BLAST58
Alternative sequenceiVSP_0225261 – 56MHTTQ…RGYGF → MYVCLCVSVAK in isoform 2. 2 PublicationsAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055391 mRNA Translation: BAB70914.1
AK095016 mRNA Translation: BAC04474.1 Sequence problems.
AY547318 mRNA Translation: AAS55633.1
AL136305 Genomic DNA No translation available.
BC104810 mRNA Translation: AAI04811.1
BC104808 mRNA Translation: AAI04809.1
CCDSiCCDS4538.1 [Q9BX46-2]
CCDS47378.1 [Q9BX46-1]
CCDS47379.1 [Q9BX46-5]
RefSeqiNP_001137413.1, NM_001143941.1 [Q9BX46-5]
NP_001137414.1, NM_001143942.1 [Q9BX46-1]
NP_694565.1, NM_153020.2 [Q9BX46-2]
UniGeneiHs.519904

Genome annotation databases

EnsembliENST00000318204; ENSP00000319551; ENSG00000112183 [Q9BX46-2]
ENST00000379052; ENSP00000368341; ENSG00000112183 [Q9BX46-1]
ENST00000425446; ENSP00000396898; ENSG00000112183 [Q9BX46-5]
GeneIDi221662
KEGGihsa:221662
UCSCiuc003nbz.5 human [Q9BX46-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRBM24_HUMAN
AccessioniPrimary (citable) accession number: Q9BX46
Secondary accession number(s): E9PAY4
, Q6QDA4, Q8N9D3, Q96NI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 135 of the entry and version 1 of the sequence. See 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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