Entrez Summary: This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011].
UniProt Summary: 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). Required for localization of CUL7 to the centrosome (PubMed:24793695). {ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
3M complex
negative regulation of phosphatase activity
negative regulation of dephosphorylation
regulation of mitotic nuclear division
regulation of phosphatase activity
regulation of nuclear division
regulation of dephosphorylation
post-translational protein modification
negative regulation of hydrolase activity
microtubule cytoskeleton organization
centrosome
negative regulation of phosphate metabolic process
negative regulation of phosphorus metabolic process
regulation of mitotic cell cycle
microtubule-based process
regulation of cell cycle process
negative regulation of catalytic activity
cytoskeleton organization
negative regulation of molecular function
regulation of cell cycle
regulation of hydrolase activity
regulation of organelle organization
regulation of phosphate metabolic process
regulation of phosphorus metabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)