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muscleblind-like X-linked protein (muscleblind-like protein 3, Cys3His CCG1-required protein, protein HCHCR, MBNL3, CHCR, MBLX39, MBXL)

Function: - inhibits terminal muscle differentiation, acting at approximately the time of myogenin induction (putative) Structure: contains 4 C3H1-type zinc fingers Compartment: - nucleus, cytoplasm - greater concentration in nucleus Alternative splicing: named isoforms=4 Expression: highly expressed in the placenta Pathology: - in myotonic dystrophy (1 & 2) colocalizes with nuclear foci of retained expanded-repeat transcripts

General

zinc finger protein

Properties

SIZE: MW = 39 kD entity length = 354 aa COMPARTMENT: cytoplasm cell nucleus MOTIF: Zinc finger NAME: Zinc finger SITE: 18-39 EFFECTOR-BOUND: Zn+2 Zinc finger NAME: Zinc finger SITE: 52-71 EFFECTOR-BOUND: Zn+2 proline-rich region SITE: 118-169 MOTIF: proline residue (SEVERAL) Zinc finger NAME: Zinc finger SITE: 178-199 EFFECTOR-BOUND: Zn+2 Zinc finger NAME: Zinc finger SITE: 214-233 EFFECTOR-BOUND: Zn+2

Database Correlations

OMIM 300413 UniProt Q9NUK0 Pfam PF00642

References

UniProt :accession Q9NUK0