Protein: Muscleblind-like protein 3 (Cys3His CCG1-required protein) (Muscleblind-like X-linked protein) (Protein HCHCR) (Q9NUK0)
Organism: Homo sapiens (Human)
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. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction.
Subcellular location: Nucleus {ECO:0000269|PubMed:11929853}. Cytoplasm {ECO:0000269|PubMed:11929853}. Note=Greater concentration in the nucleus. In both DM1 and DM2 patients, colocalizes with nuclear foci of retained expanded-repeat transcripts.
Sequence: MTAVNVALIRDTKWLTLEVCREFQRGTCSRADADCKFAHPPRVCHVENGRVVACFDSLKGRCTRENCKYLHPPPHLKTQLEINGRNNLIQQKTAAAMFAQQMQLMLQNAQMSSLGSFPMTPSIPANPPMAFNPYIPHPGMGLVPAELVPNTPVLIPGNPPLAMPGAVGPKLMRSDKLEVCREFQRGNCTRGENDCRYAHPTDASMIEASDNTVTICMDYIKGRCSREKCKYFHPPAHLQARLKAAHHQMNHSAASAMALQPGTLQLIPKRSALEKPNGATPVFNPTVFHCQQALTNLQLPQPAFIPAGPILCMAPASNIVPMMHGATPTTVSAATTPATSVPFAAPTTGNQLKF
InterPro domains: - IPR000571: Zinc finger, CCCH-type (domain) [14-236]
- IPR041367: E3 ligase, CCCH-type zinc finger (domain) [179-200]
- IPR054429: Muscleblind-like, CCCH zinc finger (domain) [49-248]
Interaction partners: - CCHC-type zinc finger nucleic acid binding protein
- CUGBP Elav-like family member 1
- Chloride channel protein 1
- KH domain-containing RNA-binding protein QKI
- Myotonin-protein kinase
- Muscleblind-like protein 1
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0097159 (organic cyclic compound binding), GO:1901363 (heterocyclic compound binding), GO:0005515 (protein binding), GO:0003676 (nucleic acid binding), GO:0003723 (RNA binding), GO:0003725 (double-stranded RNA binding)
Biological Process (BP): GO:0008150 (biological process), GO:0050789 (regulation of biological process), GO:0048519 (negative regulation of biological process), GO:0065007 (biological regulation), GO:0051093 (negative regulation of developmental process), GO:0048523 (negative regulation of cellular process), GO:0050793 (regulation of developmental process), GO:0050794 (regulation of cellular process), GO:0045595 (regulation of cell differentiation), GO:0045596 (negative regulation of cell differentiation), GO:0045661 (regulation of myoblast differentiation), GO:0045662 (negative regulation of myoblast differentiation)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0005829 (cytosol), GO:0005737 (cytoplasm), GO:0031974 (membrane-enclosed lumen), GO:0005654 (nucleoplasm), GO:0043233 (organelle lumen), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle), GO:0070013 (intracellular organelle lumen), GO:0031981 (nuclear lumen), GO:0005634 (nucleus)