功能： disease:Defects in CUL7 are the cause of 3M syndrome (3MS) [MIM:273750]. 3M syndrome is 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.,function:Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteosomal degradation of target proteins. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation (By similarity). Seems not to promote polyubiquitination and proteosomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or TP53 contain E3 ubiquitin-protein ligase activity.,pathway:Protein modification; protein ubiquitination.,similarity:Belongs to the cullin family.,similarity:Contains 1 DOC domain.,subunit:Part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1. Interacts with a complex of SKP1 and FBXW8, but not with SKP1 alone. Interacts with CUL9. Interacts with FBXW8; interaction is mutually exclusive of binding to CUL9 or TP53. Interacts with TP53; the interaction preferentially involves tetrameric and dimeric TP53. The CUL7-CUL9 heterodimer seems to interact specifically with TP53. Interacts with CUL1; the interactions seems to be mediated by FBXW8.,tissue specificity:Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Golgi apparatus. 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). .
组织表达： Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.
功能： disease:Defects in CUL7 are the cause of 3M syndrome (3MS) [MIM:273750]. 3M syndrome is 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.,function:Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteosomal degradation of target proteins. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation (By similarity). Seems not to promote polyubiquitination and proteosomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or TP53 contain E3 ubiquitin-protein ligase activity.,pathway:Protein modification; protein ubiquitination.,similarity:Belongs to the cullin family.,similarity:Contains 1 DOC domain.,subunit:Part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1. Interacts with a complex of SKP1 and FBXW8, but not with SKP1 alone. Interacts with CUL9. Interacts with FBXW8; interaction is mutually exclusive of binding to CUL9 or TP53. Interacts with TP53; the interaction preferentially involves tetrameric and dimeric TP53. The CUL7-CUL9 heterodimer seems to interact specifically with TP53. Interacts with CUL1; the interactions seems to be mediated by FBXW8.,tissue specificity:Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Golgi apparatus. 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). .
组织表达： Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.
在线咨询
湘公网安备