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Protein

Muscleblind-like protein 1

Gene

Mbnl1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri178 – 206C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri214 – 240C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing
LigandMetal-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 3

Organism-specific databases

MGIiMGI:1928482 Mbnl1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000891791 – 341Muscleblind-like protein 1Add BLAST341

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei6PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9JKP5
MaxQBiQ9JKP5
PaxDbiQ9JKP5
PRIDEiQ9JKP5

PTM databases

iPTMnetiQ9JKP5
PhosphoSitePlusiQ9JKP5

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSMUSG00000027763 Expressed in 302 organ(s), highest expression level in subcutaneous adipose tissue
CleanExiMM_MBNL1
ExpressionAtlasiQ9JKP5 baseline and differential
GenevisibleiQ9JKP5 MM

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi208165, 1 interactor
IntActiQ9JKP5, 1 interactor
MINTiQ9JKP5
STRINGi10090.ENSMUSP00000096686

Structurei

3D structure databases

ProteinModelPortaliQ9JKP5
SMRiQ9JKP5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the muscleblind family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri13 – 41C3H1-type 1PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri47 – 73C3H1-type 2PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri178 – 206C3H1-type 3PROSITE-ProRule annotationAdd BLAST29
Zinc fingeri214 – 240C3H1-type 4PROSITE-ProRule annotationAdd BLAST27

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ9JKP5
KOiK14943
PhylomeDBiQ9JKP5

Family and domain databases

InterProiView protein in InterPro
IPR000571 Znf_CCCH
PfamiView protein in Pfam
PF00642 zf-CCCH, 1 hit
SMARTiView protein in SMART
SM00356 ZnF_C3H1, 4 hits
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 4 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 13 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3X9Q0G3X9Q0_MOUSE
Muscleblind-like 1 (Drosophila), is...
Mbnl1 mCG_19416
381Annotation score:
Q3U581Q3U581_MOUSE
Muscleblind-like protein 1
Mbnl1
289Annotation score:
A0A0A6YVV8A0A0A6YVV8_MOUSE
Muscleblind-like protein 1
Mbnl1
387Annotation score:
A0A0A6YWB0A0A0A6YWB0_MOUSE
Muscleblind-like protein 1
Mbnl1
347Annotation score:
Q3U570Q3U570_MOUSE
Muscleblind-like protein 1
Mbnl1
254Annotation score:
A0A0A6YXP3A0A0A6YXP3_MOUSE
Muscleblind-like protein 1
Mbnl1
182Annotation score:
A0A0A6YXE3A0A0A6YXE3_MOUSE
Muscleblind-like protein 1
Mbnl1
302Annotation score:
A0A0A6YXQ4A0A0A6YXQ4_MOUSE
Muscleblind-like protein 1
Mbnl1
302Annotation score:
A0A0A6YWJ5A0A0A6YWJ5_MOUSE
Muscleblind-like protein 1
Mbnl1
209Annotation score:
A0A0A6YWG1A0A0A6YWG1_MOUSE
Muscleblind-like protein 1
Mbnl1
257Annotation score:
There are more potential isoformsShow all

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231110 mRNA Translation: AAF72159.1
CCDSiCCDS79917.1
RefSeqiNP_001240637.1, NM_001253708.2
UniGeneiMm.255723

Genome annotation databases

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

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231110 mRNA Translation: AAF72159.1
CCDSiCCDS79917.1
RefSeqiNP_001240637.1, NM_001253708.2
UniGeneiMm.255723

3D structure databases

ProteinModelPortaliQ9JKP5
SMRiQ9JKP5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi208165, 1 interactor
IntActiQ9JKP5, 1 interactor
MINTiQ9JKP5
STRINGi10090.ENSMUSP00000096686

PTM databases

iPTMnetiQ9JKP5
PhosphoSitePlusiQ9JKP5

Proteomic databases

EPDiQ9JKP5
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

eggNOGiKOG2494 Eukaryota
ENOG410ZNRC LUCA
GeneTreeiENSGT00390000001586
HOGENOMiHOG000230928
HOVERGENiHBG006999
InParanoidiQ9JKP5
KOiK14943
PhylomeDBiQ9JKP5

Miscellaneous databases

ChiTaRSiMbnl1 mouse
PROiPR:Q9JKP5
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000027763 Expressed in 302 organ(s), highest expression level in subcutaneous adipose tissue
CleanExiMM_MBNL1
ExpressionAtlasiQ9JKP5 baseline and differential
GenevisibleiQ9JKP5 MM

Family and domain databases

InterProiView protein in InterPro
IPR000571 Znf_CCCH
PfamiView protein in Pfam
PF00642 zf-CCCH, 1 hit
SMARTiView protein in SMART
SM00356 ZnF_C3H1, 4 hits
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMBNL1_MOUSE
AccessioniPrimary (citable) accession number: Q9JKP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 114 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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