General Information of Drug Therapeutic Target (DTT) (ID: TTH9OLG)

DTT Name Muscleblind-like protein 1 (MBNL2)
Synonyms
Muscleblindlike proteinlike 39; Muscleblindlike proteinlike; Muscleblindlike protein 2; Muscleblindlike protein 1; Muscleblind-like protein-like 39; Muscleblind-like protein-like; Muscleblind-like protein 2; MLP1; MBLL39; MBLL
Gene Name MBNL2
DTT Type
Literature-reported target
[1]
UniProt ID
MBNL2_HUMAN
TTD ID
T34708
3D Structure
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2D Sequence (FASTA)
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3D Structure (PDB)
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Sequence
MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQVENGRVIACFDSLKGR
CSRENCKYLHPPTHLKTQLEINGRNNLIQQKTAAAMLAQQMQFMFPGTPLHPVPTFPVGP
AIGTNTAISFAPYLAPVTPGVGLVPTEILPTTPVIVPGSPPVTVPGSTATQKLLRTDKLE
VCREFQRGNCARGETDCRFAHPADSTMIDTSDNTVTVCMDYIKGRCMREKCKYFHPPAHL
QAKIKAAQHQANQAAVAAQAAAAAATVMAFPPGALHPLPKRQALEKSNGTSAVFNPSVLH
YQQALTSAQLQQHAAFIPTGSVLCMTPATSIDNSEIISRNGMECQESALRITKHCYCTYY
PVSSSIELPQTAC
Function
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'ACACCC-3' 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 regulate 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). Mediates pre-mRNA alternative splicing regulation.

References

1 Muscleblind-like 1 (Mbnl1) regulates pre-mRNA alternative splicing during terminal erythropoiesis. Blood. 2014 Jul 24;124(4):598-610.