This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
Function:
Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. 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. RNA-binding protein that binds to 5'ACACCSLC3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulates expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).
Subcellular Location:
Nucleus. Cytoplasm. Greater concentration in the nucleus. Expressed in or near large cytoplasmic adhesion plaques. Location in the cytoplasm is microtubule-dependent. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.
Tissue Specificity:
Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Similarity:
Belongs to the muscleblind family.
Contains 4 C3H1-type zinc fingers.
SWISS:
Q5VZF2
Gene ID:
10150
Database links:
Entrez Gene: 10150 Human
Entrez Gene: 105559 Mouse
Entrez Gene: 136445 Rat
Omim: 607327 Human
SwissProt: Q5VZF2 Human
SwissProt: Q8C181 Mouse
SwissProt: F2Z3T4 Rat
Unigene: 657347 Human
Unigene: 238266 Mouse
Unigene: 1940 Rat
|
|
