Aliases for OBSL1 Gene
External Ids for OBSL1 Gene
Previous GeneCards Identifiers for OBSL1 Gene
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
GeneCards Summary for OBSL1 Gene
OBSL1 (Obscurin Like Cytoskeletal Adaptor 1) is a Protein Coding gene. Diseases associated with OBSL1 include Three M Syndrome 2 and Three M Syndrome 1. Gene Ontology (GO) annotations related to this gene include cytoskeletal adaptor activity. An important paralog of this gene is MYOM1.
UniProtKB/Swiss-Prot Summary for OBSL1 Gene
Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.