SA1

Function

Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms 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. The cohesin complex may also play a role in spindle pole assembly during mitosis.

Involvement in disease

Mental retardation, autosomal dominant 47

MRD47

A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD47 patients manifest developmental delay and mild to moderate intellectual disability, usually with delayed speech.

None

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

Post-translational modifications

Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).

Sequence similarities

Belongs to the SCC3 family.

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 PLK1, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of cohesin is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation.

Alternative names

• Cohesin subunit SA-1
• SCC3 homolog 1
• Stromal antigen 1
• SCC3
• STAG1
• SA1

Database links

• entrezGene:10274
• omim:604358
• swissprot:Q8WVM7

Target type

Proteins

Primary research area

Epigenetics

Molecular weight

144427Da