HGNC approved symbol | MBNL1 |
HGNC ID | HGNC:6923 |
HGNC approved name | Muscleblind-like protein 1 (Triplet-expansion RNA-binding protein) |
Entrez gene ID | GeneID:4154 (SSTAR profile) |
UniProt AC (human) | Q9NR56 |
UniProt ID (human) | MBNL1_HUMAN |
Pfam domains | zf-CCCH_2 PF14608 (19-39) domain PF22628 (48-86, 216-253) zf-CCCH PF00642 (183-205) |
MGI symbol | Mbnl1 |
MGI ID | MGI:1928482 |
UniProt AC (mouse) | Q9JKP5 |
UniProt ID (mouse) | MBNL1_MOUSE |
HGNC gene family tag | ZC3H |
HGNC gene family description | Zinc fingers CCCH-type |
Function | RNA modification |
Modification | Alternative splicing |
PMID for information on function | PMID:16946708, PMID:19470458, PMID:15257297 |
Protein complex | # |
Target molecule | RNA |
Target entity | mRNA |
Product | # |
PMID for information on target | PMID:16946708, PMID:19470458, PMID:15257297 |
Comment | Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonistic regulator with CELF proteins. |
Status of entry | New |
Expression range: | 0.0 to 1788.01 |
Mean expression: | 202.35 ± 188.38 |
Median expression: | 145.48 |