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- Table of Contents
1 Citations
Facts about Muscleblind-like protein 1.
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.
Human | |
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Gene Name: | MBNL1 |
Uniprot: | Q9NR56 |
Entrez: | 4154 |
Belongs to: |
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muscleblind family |
DKFZp686P06174; EXP40; EXP42; EXPKIAA0428EXP35; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); muscleblind-like protein 1; Triplet-expansion RNA-binding protein
Mass (kDA):
41.817 kDA
Human | |
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Location: | 3q25.1-q25.2 |
Sequence: | 3; NC_000003.12 (152243632..152465780) |
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.
Nucleus. Cytoplasm. Cytoplasmic granule. Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).
PMID: 10970838 by Miller J.W., et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
PMID: 11590133 by Mankodi A., et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.
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