SMC3 ist ein Gen, das durch das Symbol SMC3 kodiert wird. Es ist auch bekannt als: Structural maintenance of chromosomes protein 3; SMC protein 3; Basement membrane-associated chondroitin proteoglycan; Bamacan; Chondroitin sulfate proteoglycan 6; Chromosome-associated polypeptide; hCAP; BAM; BMH; CSPG6L1. SMC3 hat eine Masse von 141.54kDa, eine Aminosäurelänge von 1217, und ist an Cornelia de Lange syndrome 3 beteiligt.
Wir bieten 4 antikörper gegen SMC3, aufgewachsen in Kaninchen und Ratte, welche geeignet sind für WB and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.
Entrez Zusammenfassung
This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein.
Rolle bei Krankheiten
Cornelia de Lange syndrome 3: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation.
Sequenzähnlichkeiten
Belongs to the SMC family. SMC3 subfamily.
Posttranslationale Modifikation
Ubiquitinated by the DCX(DCAF15) complex, leading to its degradation.
Zellort
Nucleus. Chromosome. Chromosome > Centromere.
Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. The phosphorylated form at Ser-1083 is preferentially associated with unsynapsed chromosomal regions (By similarity).
