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Protein

Muscleblind-like protein 1

Gene

Mbnl1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

  • alternative mRNA splicing, via spliceosome Source: MGI
  • embryonic limb morphogenesis Source: UniProtKB
  • in utero embryonic development Source: UniProtKB
  • mRNA splice site selection Source: MGI
  • myoblast differentiation Source: UniProtKB
  • nervous system development Source: UniProtKB
  • regulation of alternative mRNA splicing, via spliceosome Source: MGI
  • regulation of RNA splicing Source: UniProtKB
  • RNA splicing Source: UniProtKB
  • skeletal muscle tissue development Source: MGI
Complete GO annotation...

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 Componenti: Chromosome 3

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

Complete GO annotation...

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.
ExpressionAtlasiQ9JKP5. baseline and differential.
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.
GeneTreeiENSGT00390000001586.
HOGENOMiHOG000230928.
HOVERGENiHBG006999.
InParanoidiQ9JKP5.
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

        10         20         30         40         50
MAVSVTPIRD TKWLTLEVCR EFQRGTCSRP DTECKFAHPS KSCQVENGRV
60 70 80 90 100
IACFDSLKGR CSRENCKYLH PPPHLKTQLE INGRNNLIQQ KNMAMLAQQM
110 120 130 140 150
QLANAMMPGA PLQPVPMFSV APSLATSASA AFNPYLGPVS PSLVPAEILP
160 170 180 190 200
TAPMLVTGNP GVPVPAAAAA AAQKLMRTDR LEVCREYQRG NCNRGENDCR
210 220 230 240 250
FAHPADSTMI DTNDNTVTVC MDYIKGRCSR EKCKYFHPPA HLQAKIKAAQ
260 270 280 290 300
YQVNQAAAAQ AAATAAAMGI PQAVLPPLPK RPALEKTNGA TAVFNTGIFQ
310 320 330 340
YQQALANMQL QQHTAFLPPG SILCMTPATS VDTHNICRTS D
Length:341
Mass (Da):36,976
Last modified:October 1, 2000 - v1
Checksum:i8E008DB5C7EF8AB9
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231110 mRNA. Translation: AAF72159.1.
RefSeqiNP_001240637.1. NM_001253708.1.
UniGeneiMm.255723.

Genome annotation databases

EnsembliENSMUST00000192607; ENSMUSP00000142095; ENSMUSG00000027763.
GeneIDi56758.
KEGGimmu:56758.
UCSCiuc008pjf.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231110 mRNA. Translation: AAF72159.1.
RefSeqiNP_001240637.1. NM_001253708.1.
UniGeneiMm.255723.

3D structure databases

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

Protein-protein interaction databases

IntActiQ9JKP5. 1 interaction.
MINTiMINT-4101428.

PTM databases

PhosphoSiteiQ9JKP5.

Proteomic databases

MaxQBiQ9JKP5.
PaxDbiQ9JKP5.
PRIDEiQ9JKP5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000192607; ENSMUSP00000142095; ENSMUSG00000027763.
GeneIDi56758.
KEGGimmu:56758.
UCSCiuc008pjf.1. mouse.

Organism-specific databases

CTDi4154.
MGIiMGI:1928482. Mbnl1.

Phylogenomic databases

eggNOGiNOG241142.
GeneTreeiENSGT00390000001586.
HOGENOMiHOG000230928.
HOVERGENiHBG006999.
InParanoidiQ9JKP5.
KOiK14943.
PhylomeDBiQ9JKP5.

Miscellaneous databases

NextBioi313286.
PROiQ9JKP5.
SOURCEiSearch...

Gene expression databases

CleanExiMM_MBNL1.
ExpressionAtlasiQ9JKP5. baseline and differential.
GenevestigatoriQ9JKP5.

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]
ProtoNetiSearch...

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: March 4, 2015
This is version 93 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.