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UniProt functional annotation for Q9BZC1 | ||
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| UniProt code: Q9BZC1. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre- mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. {ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12649496, ECO:0000269|PubMed:14973222, ECO:0000269|PubMed:15009664, ECO:0000269|PubMed:15894795}. |
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| Subcellular location: | |
Nucleus {ECO:0000269|PubMed:14973222}. Cytoplasm {ECO:0000269|PubMed:14973222}. |
| Tissue specificity: | |
Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes. {ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12438720, ECO:0000269|PubMed:16862542}. |
| Similarity: | |
Belongs to the CELF/BRUNOL family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=BAD93011.1; Type=Erroneous initiation; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.