External Ids 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 1) is a Protein Coding gene. Diseases associated with OBSL1 include 3-m syndrome 2 and 3-m syndrome, obsl1-related. GO annotations related to this gene include cytoskeletal adaptor activity. An important paralog of this gene is MYPN.
UniProtKB/Swiss-Prot 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.