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SMC3

OverviewProducts

Domain

The flexible SMC hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC1A or SMC1B, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity).

Function

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.

Involvement in disease

Cornelia de Lange syndrome 3 with or without midline brain defects

CDLS3

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Ubiquitinated by the DCX(DCAF15) complex, leading to its degradation.

Phosphorylated at Ser-1083 in a SPO11-dependent manner.

Acetylation at Lys-105 and Lys-106 by ESCO1 is important for genome stability and S phase sister chromatid cohesion. Regulated by DSCC1, it is required for processive DNA synthesis, coupling sister chromatid cohesion establishment during S phase to DNA replication. Deacetylation by HDAC8, regulates release of the cohesin complex from chromatin.

Sequence similarities

Belongs to the SMC family. SMC3 subfamily.

Cellular localization

  • 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).

Alternative names

  • Structural maintenance of chromosomes protein 3
  • SMC protein 3
  • SMC-3
  • Basement membrane-associated chondroitin proteoglycan
  • Chondroitin sulfate proteoglycan 6
  • Chromosome-associated polypeptide
  • Bamacan
  • hCAP
  • BAM
  • SMC3
  • SMC3L1
  • BMH
  • CSPG6

Database links

Target type

Proteins

Molecular weight

141542Da