SMC3 est un gène codé par le symbole SMC3. Il est également connu sous le nom de: 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 a une masse de 141.54kDa, une longueur d'acide aminé de 1217, et est impliqué dans Cornelia de Lange syndrome 3.
Nous proposons 4 des anticorps contre SMC3, élevé dans Lapin et Rat, qui sont appropriés pour le WB et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the SMC family. SMC3 subfamily.
Modification post-traductionnelle
Ubiquitinated by the DCX(DCAF15) complex, leading to its degradation.
Localisation cellulaire
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).
