muscleblind-like protein 2 (muscleblind-like protein-like, muscleblind-like protein-like 39, muscleblind-like protein 1, MBNL2, MBLL, MBLL39, MLP1)

Function: 1) RNA-binding protein that binds to 5'ACACCC-3' core sequence 2) regulates expression & localization of ITGA3 by transporting it from the nucleus to cytoplasm Structure: - belongs to the muscleblind family - contains 4 C3H1-type zinc fingers Compartment: - nucleus, cytoplasm - greaterconcentration in the nucleus - expressed in or near large cytoplasmic plaques - location in the cytoplasm is microtubule-dependent Alternative splicing: named isoforms=3 Expression: - expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney & pancreas Pathology: - may play a role in myotonic dystrophy pathophysiology - binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs - colocalizes with nuclear foci of retained expanded-repeat transcripts

General

RNA-binding protein zinc finger protein

Properties

SIZE: MW = 41 kD entity length = 373 aa COMPARTMENT: cytoplasm cell nucleus MOTIF: Zinc finger NAME: Zinc finger SITE: 14-40 EFFECTOR-BOUND: Zn+2 Zinc finger NAME: Zinc finger SITE: 48-72 EFFECTOR-BOUND: Zn+2 Zinc finger NAME: Zinc finger SITE: 177-203 EFFECTOR-BOUND: Zn+2 Zinc finger NAME: Zinc finger SITE: 213-237 EFFECTOR-BOUND: Zn+2 alanine-rich region {238-269} MOTIF: alanine residue (SEVERAL)

Database Correlations

OMIM 607327 UniProt Q5VZF2 Pfam PF00642

References

UniProt :accession Q5VZF2