This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Function:
Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BSLCCUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma By similarity.
Subcellular Location:
Cytoplasmic
Tissue Specificity:
Expressed specifically in skeletal and cardiac muscles.
Similarity:
Probable component the ECS(NEURL2) E3 ubiquitin-protein ligase complex consisting of TCEB2/Elongin B, TCEB1/Elongin C, CUL5, RBX1 and NEURL2. Interacts with CTNNB1 By similarity.
SWISS:
Q9BR09
Gene ID:
140825
Database links:
Entrez Gene: 140825 Human
Entrez Gene: 415115 Mouse
Entrez Gene: 311633 Rat
Omim: 608597 Human
SwissProt: Q9BR09 Human
SwissProt: Q9D0S4 Mouse
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