UniProt Accession

 MBNL1_HUMAN; Q9NR56; E9PBW7; O43311; O43797; Q86UV8; Q86UV9; Q96P92; Q96RE3 

Genbank Protein ID

 Y13829; AB007888; AF255334; AF395876; AF401998; AJ308400; AF497718; AF497719; AC026347; AC106722; CH471052; BC043493 

Genbank Nucleotide ID

 CAA74155.1; BAA24858.2; AAF76138.1; AAK82889.1; AAK94915.1; CAC83727.1; AAP30726.1; AAP30727.1; EAW78775.1; AAH43493.1 

Protein Name

 Muscleblind-like protein 1 

Protein Synonyms/Alias

 Triplet-expansion RNA-binding protein 

Gene Name

 MBNL1 

Gene Synonyms/Alias

 EXP; KIAA0428; MBNL 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
281	AVLPPLPKRPALEKT	ubiquitination	[1]
287	PKRPALEKTNGATAV	ubiquitination	[1]

Reference

 [1] Refined preparation and use of anti-diglycine remnant (K-ε-GG) antibody enables routine quantification of 10,000s of ubiquitination sites in single proteomics experiments.
 Udeshi ND, Svinkina T, Mertins P, Kuhn E, Mani DR, Qiao JW, Carr SA.
 Mol Cell Proteomics. 2013 Mar;12(3):825-31. [PMID: 23266961] 

Functional Description

 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. 

Sequence Annotation

 ZN_FING 13 41 C3H1-type 1.
 ZN_FING 47 73 C3H1-type 2.
 ZN_FING 179 207 C3H1-type 3.
 ZN_FING 215 241 C3H1-type 4.  

Keyword

 3D-structure; Alternative splicing; Complete proteome; Cytoplasm; Metal-binding; mRNA processing; mRNA splicing; Nucleus; Reference proteome; Repeat; RNA-binding; Zinc; Zinc-finger. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 388 AA 

Protein Sequence

Gene Ontology

 GO:0010494; C:cytoplasmic stress granule; IDA:UniProtKB.
 GO:0005634; C:nucleus; IDA:UniProtKB.
 GO:0003725; F:double-stranded RNA binding; IDA:UniProtKB.
 GO:0008270; F:zinc ion binding; IEA:InterPro.
 GO:0000380; P:alternative mRNA splicing, via spliceosome; IEA:Compara.
 GO:0030326; P:embryonic limb morphogenesis; ISS:UniProtKB.
 GO:0001701; P:in utero embryonic development; ISS:UniProtKB.
 GO:0006376; P:mRNA splice site selection; IEA:Compara.
 GO:0045445; P:myoblast differentiation; ISS:UniProtKB.
 GO:0007399; P:nervous system development; ISS:UniProtKB.
 GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IEA:Compara.
 GO:0043484; P:regulation of RNA splicing; IDA:UniProtKB.
 GO:0008380; P:RNA splicing; IDA:UniProtKB.
 GO:0007519; P:skeletal muscle tissue development; IEA:Compara. 

Interpro

 IPR000571; Znf_CCCH. 

Pfam

  

SMART

 SM00356; ZnF_C3H1 

PROSITE

 PS50103; ZF_C3H1 

PRINTS