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Protein MBNL1 PDB 3D2N.png
Available structures
PDB Ortholog search: PDBe RCSB
Aliases MBNL1, EXP, EXP35, EXP40, EXP42, MBNL, muscleblind like splicing regulator 1
External IDs MGI: 1928482 HomoloGene: 23186 GeneCards: MBNL1
Gene location (Human)
Chromosome 3 (human)
Chr. Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for MBNL1
Genomic location for MBNL1
Band 3q25.1-q25.2 Start 152,243,828 bp[1]
End 152,465,780 bp[1]
RNA expression pattern
PBB GE MBNL1 201153 s at fs.png

PBB GE MBNL1 201152 s at fs.png

PBB GE MBNL1 201151 s at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC) Chr 3: 152.24 – 152.47 Mb Chr 3: 60.47 – 60.63 Mb
PubMed search [3] [4]
View/Edit Human View/Edit Mouse

Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene.[5][6][7] It has been implicated in Myotonic dystrophy and has been shown to autoregulate its transcript.[8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152601 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027763 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Oct 1997). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477. 
  6. ^ Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (Sep 2000). "Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy". The EMBO Journal. 19 (17): 4439–48. doi:10.1093/emboj/19.17.4439. PMC 302046Freely accessible. PMID 10970838. 
  7. ^ "Entrez Gene: MBNL1 muscleblind-like (Drosophila)". 
  8. ^ Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA (Aug 2004). "Muscleblind proteins regulate alternative splicing". The EMBO Journal. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918Freely accessible. PMID 15257297. 

Further reading[edit]