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Q9JKP5

- MBNL1_MOUSE

UniProt

Q9JKP5 - MBNL1_MOUSE

Protein

Muscleblind-like protein 1

Gene

Mbnl1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri13 – 4129C3H1-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri47 – 7327C3H1-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri178 – 20629C3H1-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri214 – 24027C3H1-type 4PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. double-stranded RNA binding Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. RNA binding Source: UniProtKB

    GO - Biological processi

    1. alternative mRNA splicing, via spliceosome Source: MGI
    2. embryonic limb morphogenesis Source: UniProtKB
    3. in utero embryonic development Source: UniProtKB
    4. mRNA splice site selection Source: MGI
    5. myoblast differentiation Source: UniProtKB
    6. nervous system development Source: UniProtKB
    7. regulation of alternative mRNA splicing, via spliceosome Source: MGI
    8. regulation of RNA splicing Source: UniProtKB
    9. RNA splicing Source: UniProtKB
    10. skeletal muscle tissue development Source: MGI

    Keywords - Biological processi

    mRNA processing, mRNA splicing

    Keywords - Ligandi

    Metal-binding, RNA-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Muscleblind-like protein 1
    Alternative name(s):
    Triplet-expansion RNA-binding protein
    Gene namesi
    Name:Mbnl1
    Synonyms:Exp, Mbnl
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Unplaced

    Organism-specific databases

    MGIiMGI:1928482. Mbnl1.

    Subcellular locationi

    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.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytoplasmic stress granule Source: UniProtKB
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 341341Muscleblind-like protein 1PRO_0000089179Add
    BLAST

    Proteomic databases

    MaxQBiQ9JKP5.
    PaxDbiQ9JKP5.
    PRIDEiQ9JKP5.

    PTM databases

    PhosphoSiteiQ9JKP5.

    Expressioni

    Tissue specificityi

    Highly expressed in cardiac and skeletal muscle. Weakly expressed in heart and eye (at protein level).1 Publication

    Gene expression databases

    CleanExiMM_MBNL1.
    GenevestigatoriQ9JKP5.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    IntActiQ9JKP5. 1 interaction.
    MINTiMINT-4101428.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9JKP5.
    SMRiQ9JKP5. Positions 11-86, 177-243.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the muscleblind family.Curated
    Contains 4 C3H1-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri13 – 4129C3H1-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri47 – 7327C3H1-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri178 – 20629C3H1-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri214 – 24027C3H1-type 4PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG241142.
    HOGENOMiHOG000230928.
    HOVERGENiHBG006999.
    KOiK14943.
    PhylomeDBiQ9JKP5.

    Family and domain databases

    Gene3Di4.10.1000.10. 1 hit.
    InterProiIPR000571. Znf_CCCH.
    [Graphical view]
    PfamiPF00642. zf-CCCH. 1 hit.
    [Graphical view]
    SMARTiSM00356. ZnF_C3H1. 4 hits.
    [Graphical view]
    PROSITEiPS50103. ZF_C3H1. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9JKP5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV    50
    IACFDSLKGR CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM 100
    QLANAMMPGA PLQPVPMFSV APSLATSASA AFNPYLGPVS PSLVPAEILP 150
    TAPMLVTGNP GVPVPAAAAA AAQKLMRTDR LEVCREYQRG NCNRGENDCR 200
    FAHPADSTMI DTNDNTVTVC MDYIKGRCSR EKCKYFHPPA HLQAKIKAAQ 250
    YQVNQAAAAQ AAATAAAMGI PQAVLPPLPK RPALEKTNGA TAVFNTGIFQ 300
    YQQALANMQL QQHTAFLPPG SILCMTPATS VDTHNICRTS D 341
    Length:341
    Mass (Da):36,976
    Last modified:October 1, 2000 - v1
    Checksum:i8E008DB5C7EF8AB9
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF231110 mRNA. Translation: AAF72159.1.
    RefSeqiNP_001240637.1. NM_001253708.1.
    UniGeneiMm.255723.

    Genome annotation databases

    GeneIDi56758.
    KEGGimmu:56758.
    UCSCiuc008pjf.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF231110 mRNA. Translation: AAF72159.1 .
    RefSeqi NP_001240637.1. NM_001253708.1.
    UniGenei Mm.255723.

    3D structure databases

    ProteinModelPortali Q9JKP5.
    SMRi Q9JKP5. Positions 11-86, 177-243.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9JKP5. 1 interaction.
    MINTi MINT-4101428.

    PTM databases

    PhosphoSitei Q9JKP5.

    Proteomic databases

    MaxQBi Q9JKP5.
    PaxDbi Q9JKP5.
    PRIDEi Q9JKP5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 56758.
    KEGGi mmu:56758.
    UCSCi uc008pjf.1. mouse.

    Organism-specific databases

    CTDi 4154.
    MGIi MGI:1928482. Mbnl1.

    Phylogenomic databases

    eggNOGi NOG241142.
    HOGENOMi HOG000230928.
    HOVERGENi HBG006999.
    KOi K14943.
    PhylomeDBi Q9JKP5.

    Miscellaneous databases

    NextBioi 313286.
    PROi Q9JKP5.
    SOURCEi Search...

    Gene expression databases

    CleanExi MM_MBNL1.
    Genevestigatori Q9JKP5.

    Family and domain databases

    Gene3Di 4.10.1000.10. 1 hit.
    InterProi IPR000571. Znf_CCCH.
    [Graphical view ]
    Pfami PF00642. zf-CCCH. 1 hit.
    [Graphical view ]
    SMARTi SM00356. ZnF_C3H1. 4 hits.
    [Graphical view ]
    PROSITEi PS50103. ZF_C3H1. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.

    Entry informationi

    Entry nameiMBNL1_MOUSE
    AccessioniPrimary (citable) accession number: Q9JKP5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 89 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3