SMC1A Antibody – Mouse Monoclonal

Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Smc1: a component of the cohesin multiprotein complex that is required for sister chromatid cohesion. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Thought to be an important part of functional kinetochores. Interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair.

Protein type: DNA replication; RNA splicing

Chromosomal Location of Human Ortholog: Xp11.22

Cellular Component: chromosome; chromosome, pericentric region; cohesin complex; condensed nuclear chromosome; cytoplasm; cytosol; kinetochore; nucleoplasm; nucleus

Molecular Function: chromatin binding; protein binding; protein heterodimerization activity

Biological Process: DNA damage response, signal transduction; DNA repair; meiosis; mitotic cell cycle checkpoint; mitotic sister chromatid cohesion; mitotic sister chromatid segregation; mitotic spindle organization and biogenesis; negative regulation of DNA endoreduplication; protein sumoylation; response to radiation; sister chromatid cohesion

Disease: Cornelia De Lange Syndrome 2