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.
Immunogen Information
Immunogen
Fusion protein of human SMC1A
Swissprot
Q14683
Synonyms
Chromosome segregation protein SmcBDXS423EKIAA0178MGC138332Sb1.8Segregation of mitotic chromosomes 1SMC protein 1ASMC-1-alphaSMC-1ASMC1 (structural maintenance of chromosomes 1 yeast) like 1SMC1SMC1 structural maintenance of chromosomes 1 like