Gene Information
Gene NameMBNL1
OrganismHomo sapiens (Human)
Gene Length388
Protein NamesMuscleblind-like protein 1 (Triplet-expansion RNA-binding protein)
Target NameNA
Target TypeNA
Gene Age645 ( ENSG00000152601 )
Evolutionary StageEumetazoa
AlphaFoldDBQ9NR56
Gene CardMBNL1
Uniprot IDQ9NR56
PfamPF00642
In ASDno
Allosteric Predictionno (-0.140724557)
Ortholog in AnimalsAlpaca_ MBNL1 ( ortholog_one2one )
Dog_ MBNL1 ( ortholog_one2one )
GuineaPig_ MBNL1 ( ortholog_one2one )
Macaque_ MBNL1 ( ortholog_one2one )
Mouse_ Mbnl1 ( ortholog_one2one )
Pig_ MBNL1 ( ortholog_one2one )
Rat_ Mbnl1 ( ortholog_one2one )
Rabbit_ MBNL1 ( ortholog_one2one )
OhnologsMBNL3, MBNL2
ParalogsMBNL2, MBNL3, ZC3H10
TissueNA
Tissue SpecificityHighly 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. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11929853}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 3D2N  (X-ray  2.70A  )  3D2Q  (X-ray  1.50A  )  3D2S  (X-ray  1.70A  )  5U6H  (NMR  -  )  5U6L  (NMR  -  )  5U9B  (NMR  -  ) 
DBSNP rs185894411 
Subcellular location [CC]Nucleus {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:11590133, ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:18335541}. Cytoplasmic granule {ECO:0000269|PubMed:18335541}. Note=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).
Mouse PG classificationNA
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