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Q9NUK0

- MBNL3_HUMAN

UniProt

Q9NUK0 - MBNL3_HUMAN

Protein

Muscleblind-like protein 3

Gene

MBNL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (06 Dec 2002)
      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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri14 – 4229C3H1-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri48 – 7427C3H1-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri174 – 20229C3H1-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri210 – 23627C3H1-type 4PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. mRNA processing Source: UniProtKB-KW
    2. multicellular organismal development Source: UniProtKB-KW
    3. negative regulation of myoblast differentiation Source: Ensembl
    4. regulation of RNA splicing Source: UniProtKB
    5. RNA splicing Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    mRNA processing, mRNA splicing

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Muscleblind-like protein 3
    Alternative name(s):
    Cys3His CCG1-required protein
    Muscleblind-like X-linked protein
    Protein HCHCR
    Gene namesi
    Name:MBNL3
    Synonyms:CHCR, MBLX39, MBXL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:20564. MBNL3.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication
    Note: Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134992936.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 354354Muscleblind-like protein 3PRO_0000089180Add
    BLAST

    Proteomic databases

    MaxQBiQ9NUK0.
    PaxDbiQ9NUK0.
    PRIDEiQ9NUK0.

    PTM databases

    PhosphoSiteiQ9NUK0.

    Expressioni

    Tissue specificityi

    Highly expressed in the placenta.1 Publication

    Gene expression databases

    ArrayExpressiQ9NUK0.
    BgeeiQ9NUK0.
    GenevestigatoriQ9NUK0.

    Organism-specific databases

    HPAiHPA001584.

    Interactioni

    Protein-protein interaction databases

    BioGridi120909. 2 interactions.
    IntActiQ9NUK0. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NUK0.
    SMRiQ9NUK0. Positions 12-87, 175-240.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi118 – 16952Pro-richAdd
    BLAST

    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 fingeri14 – 4229C3H1-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri48 – 7427C3H1-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri174 – 20229C3H1-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri210 – 23627C3H1-type 4PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG241142.
    HOVERGENiHBG006999.
    InParanoidiQ9NUK0.
    KOiK14943.
    OMAiPKPMRSD.
    PhylomeDBiQ9NUK0.
    TreeFamiTF321931.

    Family and domain databases

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

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NUK0-1) [UniParc]FASTAAdd to Basket

    Also known as: HCHCR-G, G

    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

    MTAVNVALIR DTKWLTLEVC REFQRGTCSR ADADCKFAHP PRVCHVENGR    50
    VVACFDSLKG RCTRENCKYL HPPPHLKTQL EINGRNNLIQ QKTAAAMFAQ 100
    QMQLMLQNAQ MSSLGSFPMT PSIPANPPMA FNPYIPHPGM GLVPAELVPN 150
    TPVLIPGNPP LAMPGAVGPK LMRSDKLEVC REFQRGNCTR GENDCRYAHP 200
    TDASMIEASD NTVTICMDYI KGRCSREKCK YFHPPAHLQA RLKAAHHQMN 250
    HSAASAMALQ PGTLQLIPKR SALEKPNGAT PVFNPTVFHC QQALTNLQLP 300
    QPAFIPAGPI LCMAPASNIV PMMHGATPTT VSAATTPATS VPFAAPTTGN 350
    QLKF 354
    Length:354
    Mass (Da):38,532
    Last modified:December 6, 2002 - v2
    Checksum:i145E1AF8CB3BEE27
    GO
    Isoform 2 (identifier: Q9NUK0-2) [UniParc]FASTAAdd to Basket

    Also known as: HCHCR-R, R

    The sequence of this isoform differs from the canonical sequence as follows:
         258-292: Missing.
         352-354: LKF → IPQLSIDELNSSMFVSQM

    Show »
    Length:334
    Mass (Da):36,380
    Checksum:i9FB835135F474DCE
    GO
    Isoform 3 (identifier: Q9NUK0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: Missing.
         51-57: VVACFDS → MERASKN

    Show »
    Length:304
    Mass (Da):32,942
    Checksum:iACB92E93B3E5C097
    GO
    Isoform 4 (identifier: Q9NUK0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: Missing.
         51-57: VVACFDS → MERASKN
         308-319: Missing.

    Show »
    Length:292
    Mass (Da):31,774
    Checksum:iFB239634C3247296
    GO
    Isoform 5 (identifier: Q9NUK0-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-96: Missing.

    Show »
    Length:258
    Mass (Da):27,687
    Checksum:i1DBE7A26DE8F5A4B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti113 – 1131S → P in AAQ75759. 1 PublicationCurated
    Sequence conflicti187 – 1871N → I in AAQ75759. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9696Missing in isoform 5. 2 PublicationsVSP_044309Add
    BLAST
    Alternative sequencei1 – 5050Missing in isoform 3 and isoform 4. 2 PublicationsVSP_006431Add
    BLAST
    Alternative sequencei51 – 577VVACFDS → MERASKN in isoform 3 and isoform 4. 2 PublicationsVSP_006432
    Alternative sequencei258 – 29235Missing in isoform 2. 1 PublicationVSP_006433Add
    BLAST
    Alternative sequencei308 – 31912Missing in isoform 4. 1 PublicationVSP_015935Add
    BLAST
    Alternative sequencei352 – 3543LKF → IPQLSIDELNSSMFVSQM in isoform 2. 1 PublicationVSP_006434

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY072692 mRNA. Translation: AAL65661.1.
    AF467070 mRNA. Translation: AAL87670.1.
    AB077698 mRNA. Translation: BAB85648.1.
    AB077699 mRNA. Translation: BAB85649.1.
    AJ427918 mRNA. Translation: CAD20869.1.
    AJ427919 mRNA. Translation: CAD20870.1.
    AF491305 mRNA. Translation: AAM09533.1.
    AY372211 mRNA. Translation: AAQ75759.1.
    AK002178 mRNA. Translation: BAA92124.1.
    AK300248 mRNA. Translation: BAG62014.1.
    AL161442 Genomic DNA. No translation available.
    AL050310 Genomic DNA. Translation: CAI43102.1.
    AL050310 Genomic DNA. Translation: CAI43105.1.
    AL050310 Genomic DNA. Translation: CAI43106.1.
    AL050310 Genomic DNA. Translation: CAI43108.1.
    BC042090 mRNA. Translation: AAH42090.1.
    BC074775 mRNA. Translation: AAH74775.1.
    BC074776 mRNA. Translation: AAH74776.1.
    AL133625 mRNA. Translation: CAB63751.1.
    CCDSiCCDS14633.1. [Q9NUK0-1]
    CCDS14634.1. [Q9NUK0-2]
    CCDS55492.1. [Q9NUK0-5]
    CCDS55493.1. [Q9NUK0-4]
    CCDS55494.1. [Q9NUK0-3]
    PIRiT43463.
    RefSeqiNP_001164172.1. NM_001170701.1. [Q9NUK0-3]
    NP_001164173.1. NM_001170702.1. [Q9NUK0-4]
    NP_001164174.1. NM_001170703.1. [Q9NUK0-5]
    NP_001164175.1. NM_001170704.1. [Q9NUK0-5]
    NP_060858.2. NM_018388.3. [Q9NUK0-1]
    NP_597846.1. NM_133486.2. [Q9NUK0-2]
    XP_005262491.1. XM_005262434.2. [Q9NUK0-1]
    UniGeneiHs.105134.
    Hs.596347.

    Genome annotation databases

    EnsembliENST00000370839; ENSP00000359876; ENSG00000076770. [Q9NUK0-2]
    ENST00000370844; ENSP00000359881; ENSG00000076770. [Q9NUK0-5]
    ENST00000370849; ENSP00000359886; ENSG00000076770. [Q9NUK0-3]
    ENST00000370853; ENSP00000359890; ENSG00000076770. [Q9NUK0-1]
    ENST00000394311; ENSP00000377848; ENSG00000076770. [Q9NUK0-5]
    ENST00000538204; ENSP00000439618; ENSG00000076770. [Q9NUK0-4]
    GeneIDi55796.
    KEGGihsa:55796.
    UCSCiuc004ewt.3. human. [Q9NUK0-3]
    uc004ewu.4. human. [Q9NUK0-2]
    uc004ewv.4. human. [Q9NUK0-1]
    uc004ewx.2. human. [Q9NUK0-4]

    Polymorphism databases

    DMDMi26396510.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY072692 mRNA. Translation: AAL65661.1 .
    AF467070 mRNA. Translation: AAL87670.1 .
    AB077698 mRNA. Translation: BAB85648.1 .
    AB077699 mRNA. Translation: BAB85649.1 .
    AJ427918 mRNA. Translation: CAD20869.1 .
    AJ427919 mRNA. Translation: CAD20870.1 .
    AF491305 mRNA. Translation: AAM09533.1 .
    AY372211 mRNA. Translation: AAQ75759.1 .
    AK002178 mRNA. Translation: BAA92124.1 .
    AK300248 mRNA. Translation: BAG62014.1 .
    AL161442 Genomic DNA. No translation available.
    AL050310 Genomic DNA. Translation: CAI43102.1 .
    AL050310 Genomic DNA. Translation: CAI43105.1 .
    AL050310 Genomic DNA. Translation: CAI43106.1 .
    AL050310 Genomic DNA. Translation: CAI43108.1 .
    BC042090 mRNA. Translation: AAH42090.1 .
    BC074775 mRNA. Translation: AAH74775.1 .
    BC074776 mRNA. Translation: AAH74776.1 .
    AL133625 mRNA. Translation: CAB63751.1 .
    CCDSi CCDS14633.1. [Q9NUK0-1 ]
    CCDS14634.1. [Q9NUK0-2 ]
    CCDS55492.1. [Q9NUK0-5 ]
    CCDS55493.1. [Q9NUK0-4 ]
    CCDS55494.1. [Q9NUK0-3 ]
    PIRi T43463.
    RefSeqi NP_001164172.1. NM_001170701.1. [Q9NUK0-3 ]
    NP_001164173.1. NM_001170702.1. [Q9NUK0-4 ]
    NP_001164174.1. NM_001170703.1. [Q9NUK0-5 ]
    NP_001164175.1. NM_001170704.1. [Q9NUK0-5 ]
    NP_060858.2. NM_018388.3. [Q9NUK0-1 ]
    NP_597846.1. NM_133486.2. [Q9NUK0-2 ]
    XP_005262491.1. XM_005262434.2. [Q9NUK0-1 ]
    UniGenei Hs.105134.
    Hs.596347.

    3D structure databases

    ProteinModelPortali Q9NUK0.
    SMRi Q9NUK0. Positions 12-87, 175-240.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120909. 2 interactions.
    IntActi Q9NUK0. 1 interaction.

    PTM databases

    PhosphoSitei Q9NUK0.

    Polymorphism databases

    DMDMi 26396510.

    Proteomic databases

    MaxQBi Q9NUK0.
    PaxDbi Q9NUK0.
    PRIDEi Q9NUK0.

    Protocols and materials databases

    DNASUi 55796.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370839 ; ENSP00000359876 ; ENSG00000076770 . [Q9NUK0-2 ]
    ENST00000370844 ; ENSP00000359881 ; ENSG00000076770 . [Q9NUK0-5 ]
    ENST00000370849 ; ENSP00000359886 ; ENSG00000076770 . [Q9NUK0-3 ]
    ENST00000370853 ; ENSP00000359890 ; ENSG00000076770 . [Q9NUK0-1 ]
    ENST00000394311 ; ENSP00000377848 ; ENSG00000076770 . [Q9NUK0-5 ]
    ENST00000538204 ; ENSP00000439618 ; ENSG00000076770 . [Q9NUK0-4 ]
    GeneIDi 55796.
    KEGGi hsa:55796.
    UCSCi uc004ewt.3. human. [Q9NUK0-3 ]
    uc004ewu.4. human. [Q9NUK0-2 ]
    uc004ewv.4. human. [Q9NUK0-1 ]
    uc004ewx.2. human. [Q9NUK0-4 ]

    Organism-specific databases

    CTDi 55796.
    GeneCardsi GC0XM131506.
    HGNCi HGNC:20564. MBNL3.
    HPAi HPA001584.
    MIMi 300413. gene.
    neXtProti NX_Q9NUK0.
    PharmGKBi PA134992936.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241142.
    HOVERGENi HBG006999.
    InParanoidi Q9NUK0.
    KOi K14943.
    OMAi PKPMRSD.
    PhylomeDBi Q9NUK0.
    TreeFami TF321931.

    Miscellaneous databases

    GeneWikii MBNL3.
    GenomeRNAii 55796.
    NextBioi 60923.
    PROi Q9NUK0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NUK0.
    Bgeei Q9NUK0.
    Genevestigatori Q9NUK0.

    Family and domain databases

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

    Publicationsi

    1. "Inhibition of muscle differentiation by the novel muscleblind-related protein CHCR."
      Squillace R.M., Chenault D.M., Wang E.H.
      Dev. Biol. 250:218-230(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION.
      Tissue: Embryonic kidney.
    2. "MBLX39 sequence."
      Urbinati C.R., Swanson M.S.
      Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. Li H., Yu R., Zheng G., Ke R., Zhou G., Shen C., Li M., Xiao W., Lin L., Yang S.
      Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5).
      Tissue: Placenta.
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1 AND 5).
      Tissue: Lung.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-354.
      Tissue: Testis.
    8. "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, ALTERNATIVE SPLICING.
    9. Cited for: FUNCTION.

    Entry informationi

    Entry nameiMBNL3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NUK0
    Secondary accession number(s): Q5JXN8
    , Q5JXN9, Q5JXP4, Q6UDQ1, Q8IUR4, Q8TAD9, Q8TAF4, Q9H0Z7, Q9UF37
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: December 6, 2002
    Last modified: October 1, 2014
    This is version 119 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3