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Q9JKP5 (MBNL1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Muscleblind-like protein 1
Alternative name(s):
Triplet-expansion RNA-binding protein
Gene names
Name:Mbnl1
Synonyms:Exp, Mbnl
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length341 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs By similarity.

Subunit structure

Interacts with DDX1 and YBX1. Interacts with HNRNPH1; the interaction in RNA-independent By similarity.

Subcellular location

Nucleus By similarity. Cytoplasm By similarity. Cytoplasmic granule By similarity. Note: Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes By similarity.

Tissue specificity

Highly expressed in cardiac and skeletal muscle. Weakly expressed in heart and eye (at protein level). Ref.3

Sequence similarities

Belongs to the muscleblind family.

Contains 4 C3H1-type zinc fingers.

Ontologies

Keywords
   Biological processmRNA processing
mRNA splicing
   Cellular componentCytoplasm
Nucleus
   DomainRepeat
Zinc-finger
   LigandMetal-binding
RNA-binding
Zinc
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processRNA splicing

Inferred from sequence or structural similarity. Source: UniProtKB

alternative mRNA splicing, via spliceosome

Inferred from mutant phenotype PubMed 19720736. Source: MGI

embryonic limb morphogenesis

Inferred from expression pattern PubMed 12915312. Source: UniProtKB

in utero embryonic development

Inferred from expression pattern PubMed 12915312. Source: UniProtKB

mRNA splice site selection

Inferred from mutant phenotype PubMed 14671308PubMed 16717059. Source: MGI

myoblast differentiation

Inferred from direct assay Ref.3. Source: UniProtKB

nervous system development

Inferred from expression pattern PubMed 12915312. Source: UniProtKB

regulation of RNA splicing

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of alternative mRNA splicing, via spliceosome

Inferred from mutant phenotype PubMed 19075228. Source: MGI

skeletal muscle tissue development

Inferred from mutant phenotype PubMed 16717059. Source: MGI

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasmic stress granule

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionRNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

double-stranded RNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 341341Muscleblind-like protein 1
PRO_0000089179

Regions

Zinc finger13 – 4129C3H1-type 1
Zinc finger47 – 7327C3H1-type 2
Zinc finger178 – 20629C3H1-type 3
Zinc finger214 – 24027C3H1-type 4

Sequences

Sequence LengthMass (Da)Tools
Q9JKP5 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 8E008DB5C7EF8AB9

FASTA34136,976
        10         20         30         40         50         60 
MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV IACFDSLKGR 

        70         80         90        100        110        120 
CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM QLANAMMPGA PLQPVPMFSV 

       130        140        150        160        170        180 
APSLATSASA AFNPYLGPVS PSLVPAEILP TAPMLVTGNP GVPVPAAAAA AAQKLMRTDR 

       190        200        210        220        230        240 
LEVCREYQRG NCNRGENDCR FAHPADSTMI DTNDNTVTVC MDYIKGRCSR EKCKYFHPPA 

       250        260        270        280        290        300 
HLQAKIKAAQ YQVNQAAAAQ AAATAAAMGI PQAVLPPLPK RPALEKTNGA TAVFNTGIFQ 

       310        320        330        340 
YQQALANMQL QQHTAFLPPG SILCMTPATS VDTHNICRTS D 

« Hide

References

[1]"cDNA cloning of mouse muscleblind."
Castagnola P., Monticone M., Borsani G., Bassi M.T., Tonachini L.
Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]Lubec G., Sunyer B., Chen W.-Q.
Submitted (JAN-2009) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 2-9, IDENTIFICATION BY MASS SPECTROMETRY.
Strain: OF1.
Tissue: Hippocampus.
[3]"Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy."
Miller J.W., Urbinati C.R., Teng-Umnuay P., Stenberg M.G., Byrne B.J., Thornton C.A., Swanson M.S.
EMBO J. 19:4439-4448(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF231110 mRNA. Translation: AAF72159.1.
RefSeqNP_001240637.1. NM_001253708.1.
UniGeneMm.255723.

3D structure databases

ProteinModelPortalQ9JKP5.
SMRQ9JKP5. Positions 11-86, 177-243.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9JKP5. 1 interaction.
MINTMINT-4101428.

PTM databases

PhosphoSiteQ9JKP5.

Proteomic databases

PaxDbQ9JKP5.
PRIDEQ9JKP5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID56758.
KEGGmmu:56758.
UCSCuc008pjf.1. mouse.

Organism-specific databases

CTD4154.
MGIMGI:1928482. Mbnl1.

Phylogenomic databases

eggNOGNOG241142.
HOGENOMHOG000230928.
HOVERGENHBG006999.
KOK14943.
PhylomeDBQ9JKP5.

Gene expression databases

CleanExMM_MBNL1.
GenevestigatorQ9JKP5.

Family and domain databases

Gene3D4.10.1000.10. 1 hit.
InterProIPR000571. Znf_CCCH.
[Graphical view]
PfamPF00642. zf-CCCH. 1 hit.
[Graphical view]
SMARTSM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEPS50103. ZF_C3H1. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio313286.
PROQ9JKP5.
SOURCESearch...

Entry information

Entry nameMBNL1_MOUSE
AccessionPrimary (citable) accession number: Q9JKP5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot