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Q9NR56

- MBNL1_HUMAN

UniProt

Q9NR56 - MBNL1_HUMAN

Protein

Muscleblind-like protein 1

Gene

MBNL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (16 Nov 2001)
      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 expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.5 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri13 – 4129C3H1-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri47 – 7327C3H1-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri179 – 20729C3H1-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri215 – 24127C3H1-type 4PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. double-stranded RNA binding Source: UniProtKB
    2. metal ion binding Source: UniProtKB-KW
    3. poly(A) RNA binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. RNA binding Source: UniProtKB

    GO - Biological processi

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

    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, KIAA0428, MBNL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:6923. MBNL1.

    Subcellular locationi

    Nucleus. Cytoplasm. Cytoplasmic granule
    Note: Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Dystrophia myotonica 1 (DM1) [MIM:160900]: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.
    Note: The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity.

    Organism-specific databases

    MIMi160900. phenotype.
    PharmGKBiPA30666.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 388388Muscleblind-like protein 1PRO_0000089178Add
    BLAST

    Proteomic databases

    MaxQBiQ9NR56.
    PaxDbiQ9NR56.
    PeptideAtlasiQ9NR56.
    PRIDEiQ9NR56.

    PTM databases

    PhosphoSiteiQ9NR56.

    Expressioni

    Tissue specificityi

    Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.2 Publications

    Gene expression databases

    ArrayExpressiQ9NR56.
    BgeeiQ9NR56.
    CleanExiHS_MBNL1.
    GenevestigatoriQ9NR56.

    Organism-specific databases

    HPAiCAB016398.
    HPA035098.

    Interactioni

    Subunit structurei

    Interacts with DDX1 and YBX1. Interacts with HNRNPH1; the interaction in RNA-independent.3 Publications

    Protein-protein interaction databases

    BioGridi110324. 21 interactions.
    IntActiQ9NR56. 16 interactions.
    MINTiMINT-3072751.
    STRINGi9606.ENSP00000282486.

    Structurei

    Secondary structure

    1
    388
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi12 – 143
    Beta strandi15 – 184
    Helixi22 – 243
    Turni31 – 333
    Beta strandi35 – 373
    Beta strandi49 – 513
    Helixi54 – 574
    Helixi73 – 8210
    Beta strandi181 – 1844
    Helixi186 – 1894
    Turni197 – 1993
    Beta strandi201 – 2033
    Turni213 – 2164
    Beta strandi217 – 2204
    Helixi222 – 2254
    Beta strandi235 – 2373
    Helixi241 – 2444

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3D2NX-ray2.70A9-90[»]
    3D2QX-ray1.50A/B/C/D178-246[»]
    3D2SX-ray1.70A/B/C/D178-246[»]
    ProteinModelPortaliQ9NR56.
    SMRiQ9NR56. Positions 11-86, 178-244.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NR56.

    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 fingeri179 – 20729C3H1-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri215 – 24127C3H1-type 4PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG241142.
    HOGENOMiHOG000230928.
    HOVERGENiHBG006999.
    InParanoidiQ9NR56.
    KOiK14943.
    OMAiKVPMVHG.
    OrthoDBiEOG7BKCXK.
    PhylomeDBiQ9NR56.
    TreeFamiTF321931.

    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]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NR56-1) [UniParc]FASTAAdd to Basket

    Also known as: EXP42

    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

    MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV    50
    IACFDSLKGR CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM 100
    QLANAMMPGA PLQPVPMFSV APSLATNASA AAFNPYLGPV SPSLVPAEIL 150
    PTAPMLVTGN PGVPVPAAAA AAAQKLMRTD RLEVCREYQR GNCNRGENDC 200
    RFAHPADSTM IDTNDNTVTV CMDYIKGRCS REKCKYFHPP AHLQAKIKAA 250
    QYQVNQAAAA QAAATAAAMT QSAVKSLKRP LEATFDLGIP QAVLPPLPKR 300
    PALEKTNGAT AVFNTGIFQY QQALANMQLQ QHTAFLPPVP MVHGATPATV 350
    SAATTSATSV PFAATATANQ IPIISAEHLT SHKYVTQM 388
    Length:388
    Mass (Da):41,817
    Last modified:November 16, 2001 - v2
    Checksum:i118D256A81A86695
    GO
    Isoform 2 (identifier: Q9NR56-2) [UniParc]FASTAAdd to Basket

    Also known as: EXP40

    The sequence of this isoform differs from the canonical sequence as follows:
         270-287: Missing.

    Show »
    Length:370
    Mass (Da):39,831
    Checksum:iABF12CBCCDE1FF5C
    GO
    Isoform 3 (identifier: Q9NR56-3) [UniParc]FASTAAdd to Basket

    Also known as: EXP35

    The sequence of this isoform differs from the canonical sequence as follows:
         116-183: Missing.
         270-287: Missing.

    Show »
    Length:302
    Mass (Da):33,050
    Checksum:i5D1D1AE2D6219425
    GO
    Isoform 4 (identifier: Q9NR56-4) [UniParc]FASTAAdd to Basket

    Also known as: EXP36

    The sequence of this isoform differs from the canonical sequence as follows:
         116-183: Missing.
         270-287: Missing.
         338-338: P → PGSILCMTPATSV

    Show »
    Length:314
    Mass (Da):34,211
    Checksum:i9535C699B3BBE210
    GO
    Isoform 5 (identifier: Q9NR56-5) [UniParc]FASTAAdd to Basket

    Also known as: EXP41

    The sequence of this isoform differs from the canonical sequence as follows:
         270-287: Missing.
         338-338: P → PGSILCMTPATSV

    Show »
    Length:382
    Mass (Da):40,992
    Checksum:iBE7176F8F2928ACF
    GO
    Isoform 6 (identifier: Q9NR56-6) [UniParc]FASTAAdd to Basket

    Also known as: EXP41S

    The sequence of this isoform differs from the canonical sequence as follows:
         270-287: Missing.
         338-338: P → PGSILCMTPATSV
         339-388: VPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM → DTHNICRTSD

    Show »
    Length:342
    Mass (Da):37,074
    Checksum:i179E9FA2F1A02FC4
    GO
    Isoform 7 (identifier: Q9NR56-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         270-370: TQSAVKSLKR...PFAATATANQ → FPWCTVLRQP...TSCPAAAGKM

    Show »
    Length:340
    Mass (Da):36,992
    Checksum:i9A605A3824FDA8FA
    GO

    Sequence cautioni

    The sequence BAA24858.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 7 (identifier: Q9NR56-7)
    Sequence conflicti317 – 3171A → AA in AAP30726. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei116 – 18368Missing in isoform 3 and isoform 4. 1 PublicationVSP_006429Add
    BLAST
    Alternative sequencei270 – 370101TQSAV…ATANQ → FPWCTVLRQPLCPQQQHLPQ VFPSLQQPQPTSPILDASTL LGATSCPAAAGKM in isoform 7. 1 PublicationVSP_044903Add
    BLAST
    Alternative sequencei270 – 28718Missing in isoform 2, isoform 3, isoform 4, isoform 5 and isoform 6. 6 PublicationsVSP_006430Add
    BLAST
    Alternative sequencei338 – 3381P → PGSILCMTPATSV in isoform 4, isoform 5 and isoform 6. 5 PublicationsVSP_043799
    Alternative sequencei339 – 38850VPMVH…YVTQM → DTHNICRTSD in isoform 6. 1 PublicationVSP_043800Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y13829 mRNA. Translation: CAA74155.1.
    AB007888 mRNA. Translation: BAA24858.2. Different initiation.
    AF255334 mRNA. Translation: AAF76138.1.
    AF395876 mRNA. Translation: AAK82889.1.
    AF401998 mRNA. Translation: AAK94915.1.
    AJ308400 mRNA. Translation: CAC83727.1.
    AF497718 mRNA. Translation: AAP30726.1.
    AF497719 mRNA. Translation: AAP30727.1.
    AC026347 Genomic DNA. No translation available.
    AC106722 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78775.1.
    BC043493 mRNA. Translation: AAH43493.1.
    CCDSiCCDS3163.1. [Q9NR56-5]
    CCDS3164.1. [Q9NR56-2]
    CCDS3165.1. [Q9NR56-1]
    CCDS3166.1. [Q9NR56-4]
    CCDS3167.1. [Q9NR56-7]
    CCDS3168.1. [Q9NR56-6]
    CCDS54656.1. [Q9NR56-3]
    RefSeqiNP_066368.2. NM_021038.3. [Q9NR56-5]
    NP_997175.1. NM_207292.1. [Q9NR56-2]
    NP_997176.1. NM_207293.1. [Q9NR56-1]
    NP_997177.1. NM_207294.1. [Q9NR56-3]
    NP_997178.1. NM_207295.1. [Q9NR56-4]
    NP_997179.1. NM_207296.1. [Q9NR56-7]
    NP_997180.1. NM_207297.1. [Q9NR56-6]
    XP_005247523.1. XM_005247466.2. [Q9NR56-1]
    XP_005247528.1. XM_005247471.2. [Q9NR56-6]
    UniGeneiHs.201858.
    Hs.725347.

    Genome annotation databases

    EnsembliENST00000282486; ENSP00000282486; ENSG00000152601. [Q9NR56-1]
    ENST00000282488; ENSP00000282488; ENSG00000152601. [Q9NR56-3]
    ENST00000324196; ENSP00000319374; ENSG00000152601. [Q9NR56-7]
    ENST00000324210; ENSP00000319429; ENSG00000152601. [Q9NR56-5]
    ENST00000355460; ENSP00000347637; ENSG00000152601. [Q9NR56-2]
    ENST00000357472; ENSP00000350064; ENSG00000152601. [Q9NR56-6]
    ENST00000463374; ENSP00000418108; ENSG00000152601. [Q9NR56-1]
    ENST00000465907; ENSP00000417630; ENSG00000152601. [Q9NR56-4]
    ENST00000485509; ENSP00000418876; ENSG00000152601. [Q9NR56-7]
    ENST00000485910; ENSP00000418427; ENSG00000152601. [Q9NR56-3]
    ENST00000492948; ENSP00000420103; ENSG00000152601. [Q9NR56-6]
    ENST00000545754; ENSP00000437491; ENSG00000152601. [Q9NR56-4]
    GeneIDi4154.
    KEGGihsa:4154.
    UCSCiuc003ezh.3. human. [Q9NR56-5]
    uc003ezi.3. human. [Q9NR56-2]
    uc003ezl.3. human. [Q9NR56-6]
    uc003ezm.3. human. [Q9NR56-1]
    uc003ezn.3. human. [Q9NR56-4]
    uc003ezo.3. human. [Q9NR56-3]
    uc003ezp.3. human.

    Polymorphism databases

    DMDMi17369313.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y13829 mRNA. Translation: CAA74155.1 .
    AB007888 mRNA. Translation: BAA24858.2 . Different initiation.
    AF255334 mRNA. Translation: AAF76138.1 .
    AF395876 mRNA. Translation: AAK82889.1 .
    AF401998 mRNA. Translation: AAK94915.1 .
    AJ308400 mRNA. Translation: CAC83727.1 .
    AF497718 mRNA. Translation: AAP30726.1 .
    AF497719 mRNA. Translation: AAP30727.1 .
    AC026347 Genomic DNA. No translation available.
    AC106722 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW78775.1 .
    BC043493 mRNA. Translation: AAH43493.1 .
    CCDSi CCDS3163.1. [Q9NR56-5 ]
    CCDS3164.1. [Q9NR56-2 ]
    CCDS3165.1. [Q9NR56-1 ]
    CCDS3166.1. [Q9NR56-4 ]
    CCDS3167.1. [Q9NR56-7 ]
    CCDS3168.1. [Q9NR56-6 ]
    CCDS54656.1. [Q9NR56-3 ]
    RefSeqi NP_066368.2. NM_021038.3. [Q9NR56-5 ]
    NP_997175.1. NM_207292.1. [Q9NR56-2 ]
    NP_997176.1. NM_207293.1. [Q9NR56-1 ]
    NP_997177.1. NM_207294.1. [Q9NR56-3 ]
    NP_997178.1. NM_207295.1. [Q9NR56-4 ]
    NP_997179.1. NM_207296.1. [Q9NR56-7 ]
    NP_997180.1. NM_207297.1. [Q9NR56-6 ]
    XP_005247523.1. XM_005247466.2. [Q9NR56-1 ]
    XP_005247528.1. XM_005247471.2. [Q9NR56-6 ]
    UniGenei Hs.201858.
    Hs.725347.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3D2N X-ray 2.70 A 9-90 [» ]
    3D2Q X-ray 1.50 A/B/C/D 178-246 [» ]
    3D2S X-ray 1.70 A/B/C/D 178-246 [» ]
    ProteinModelPortali Q9NR56.
    SMRi Q9NR56. Positions 11-86, 178-244.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110324. 21 interactions.
    IntActi Q9NR56. 16 interactions.
    MINTi MINT-3072751.
    STRINGi 9606.ENSP00000282486.

    Chemistry

    ChEMBLi CHEMBL1293317.

    PTM databases

    PhosphoSitei Q9NR56.

    Polymorphism databases

    DMDMi 17369313.

    Proteomic databases

    MaxQBi Q9NR56.
    PaxDbi Q9NR56.
    PeptideAtlasi Q9NR56.
    PRIDEi Q9NR56.

    Protocols and materials databases

    DNASUi 4154.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282486 ; ENSP00000282486 ; ENSG00000152601 . [Q9NR56-1 ]
    ENST00000282488 ; ENSP00000282488 ; ENSG00000152601 . [Q9NR56-3 ]
    ENST00000324196 ; ENSP00000319374 ; ENSG00000152601 . [Q9NR56-7 ]
    ENST00000324210 ; ENSP00000319429 ; ENSG00000152601 . [Q9NR56-5 ]
    ENST00000355460 ; ENSP00000347637 ; ENSG00000152601 . [Q9NR56-2 ]
    ENST00000357472 ; ENSP00000350064 ; ENSG00000152601 . [Q9NR56-6 ]
    ENST00000463374 ; ENSP00000418108 ; ENSG00000152601 . [Q9NR56-1 ]
    ENST00000465907 ; ENSP00000417630 ; ENSG00000152601 . [Q9NR56-4 ]
    ENST00000485509 ; ENSP00000418876 ; ENSG00000152601 . [Q9NR56-7 ]
    ENST00000485910 ; ENSP00000418427 ; ENSG00000152601 . [Q9NR56-3 ]
    ENST00000492948 ; ENSP00000420103 ; ENSG00000152601 . [Q9NR56-6 ]
    ENST00000545754 ; ENSP00000437491 ; ENSG00000152601 . [Q9NR56-4 ]
    GeneIDi 4154.
    KEGGi hsa:4154.
    UCSCi uc003ezh.3. human. [Q9NR56-5 ]
    uc003ezi.3. human. [Q9NR56-2 ]
    uc003ezl.3. human. [Q9NR56-6 ]
    uc003ezm.3. human. [Q9NR56-1 ]
    uc003ezn.3. human. [Q9NR56-4 ]
    uc003ezo.3. human. [Q9NR56-3 ]
    uc003ezp.3. human.

    Organism-specific databases

    CTDi 4154.
    GeneCardsi GC03P151961.
    HGNCi HGNC:6923. MBNL1.
    HPAi CAB016398.
    HPA035098.
    MIMi 160900. phenotype.
    606516. gene.
    neXtProti NX_Q9NR56.
    PharmGKBi PA30666.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241142.
    HOGENOMi HOG000230928.
    HOVERGENi HBG006999.
    InParanoidi Q9NR56.
    KOi K14943.
    OMAi KVPMVHG.
    OrthoDBi EOG7BKCXK.
    PhylomeDBi Q9NR56.
    TreeFami TF321931.

    Miscellaneous databases

    ChiTaRSi MBNL1. human.
    EvolutionaryTracei Q9NR56.
    GeneWikii MBNL1.
    GenomeRNAii 4154.
    NextBioi 16346.
    PROi Q9NR56.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NR56.
    Bgeei Q9NR56.
    CleanExi HS_MBNL1.
    Genevestigatori Q9NR56.

    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. Borsani G., Barbieri A.
      Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
      Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), FUNCTION, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION, RNA-BINDING, TISSUE SPECIFICITY, ROLE IN MYOTONIC DYSTROPHY, IDENTIFICATION BY MASS SPECTROMETRY.
    4. "Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2."
      Mankodi A., Urbinati C.R., Yuan Q.P., Moxley R.T., Sansone V., Krym M., Henderson D., Schalling M., Swanson M.S., Thornton C.A.
      Hum. Mol. Genet. 10:2165-2170(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), SUBCELLULAR LOCATION.
    5. "Study of the role of the MBNL gene in the origin myotonic dystrophies in humans."
      Pascual M., Terol J., Perez-Alonso M.
      Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
      Tissue: Blood.
    6. "Direct evidence that EXP/muscleblind interacts with CCUG tetranucleotide repeats."
      Kino Y., Ishiura S.
      Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6 AND 7).
      Tissue: Muscle.
    7. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
      Tissue: Testis.
    10. "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells."
      Fardaei M., Rogers M.T., Thorpe H.M., Larkin K., Hamshere M.G., Harper P.S., Brook J.D.
      Hum. Mol. Genet. 11:805-814(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    11. Cited for: FUNCTION, RNA-BINDING.
    12. "Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing."
      Paul S., Dansithong W., Kim D., Rossi J., Webster N.J., Comai L., Reddy S.
      EMBO J. 25:4271-4283(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH HNRNPH1, RNA-BINDING.
    13. "MBNL1 associates with YB-1 in cytoplasmic stress granules."
      Onishi H., Kino Y., Morita T., Futai E., Sasagawa N., Ishiura S.
      J. Neurosci. Res. 86:1994-2002(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DDX1 AND YBX1, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
    14. "The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing."
      Warf M.B., Diegel J.V., von Hippel P.H., Berglund J.A.
      Proc. Natl. Acad. Sci. U.S.A. 106:9203-9208(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, RNA-BINDING.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1."
      Teplova M., Patel D.J.
      Nat. Struct. Mol. Biol. 15:1343-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.50 ANGSTROMS) OF 9-90 IN COMPLEX WITH ZINC IONS AND 178-246 IN COMPLEX WITH ZINC IONS AND RNA, RNA-BINDING.

    Entry informationi

    Entry nameiMBNL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NR56
    Secondary accession number(s): E9PBW7
    , O43311, O43797, Q86UV8, Q86UV9, Q96P92, Q96RE3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: November 16, 2001
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3