CUL7

CUL7 (Cullin 7) is a Protein Coding gene. Diseases associated with CUL7 include Three M Syndrome 1 and Dubowitz Syndrome. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include binding and ubiquitin protein ligase binding. An important paralog of this gene is CUL9.

cullin 7

Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediates the ubiquitination of target proteins. 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).

Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696).

Core component of a Cul7-RING ubiquitin-protein ligase with FBXW8, which mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026).

Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988).

Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745).

The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026).

Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075).

Does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328).

While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may be have additional functions.

Epithelial to mesenchymal transition Source: UniProtKB
Golgi organization Source: UniProtKB
IRE1-mediated unfolded protein response Source: Reactome
Microtubule cytoskeleton organization Source: UniProtKB
Mitotic cytokinesis Source: UniProtKB
Placenta development Source: UniProtKB
Positive regulation of dendrite morphogenesis Source: UniProtKB
Post-translational protein modification Source: Reactome
Protein ubiquitination Source: UniProtKB
Proteolysis Source: UniProtKB
Regulation of mitotic nuclear division Source: UniProtKB
Ubiquitin-dependent protein catabolic process Source: InterPro
Vasculogenesis Source: UniProtKB
Viral process Source: UniProtKB-KW

Centrosome; Cytoplasm; Golgi apparatus; Perinuclear region. Colocalizes with FBXW8 at the Golgi apparatus in neurons; localization to Golgi is mediated by OBSL1. During mitosis, localizes to the mitotic apparatus (PubMed:24793695). CCDC8 is required for centrosomal location (PubMed:24793695).

3M syndrome 1 (3M1):
An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.

According to a report, may not be neddylated despite the conserved consensus site for neddylation at Lys-1576.