| Gene Symbol |
SMC1A
|
| Gene Synonyms |
SMC1 SMCB CDLS2 DEE85 SB1.8 EIEE85 SMC1L1 DXS423E SMC1alpha |
| Gene Full Name |
structural maintenance of chromosomes 1A |
| Gene Summary |
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] |
| Alternative Names |
Chromosome segregation protein SmcB DXS423E KIAA0178 MGC138332 Sb1.8 Segregation of mitotic chromosomes 1 SMC protein 1A SMC-1-alpha SMC-1A SMC1 (structural maintenance of chromosomes 1 yeast) like 1 SMC1 SMC1 structural maintenance of chromosomes 1 like 1 SMC1A SMC1A_HUMAN SMC1alpha SMC1L1 SMCB Structural maintenance of chromosomes 1A Structural maintenance of chromosomes protein 1A |
| Molecular Weight(MW) |
143 kDa |
| Cellular Localization |
Centromere,Chromosome,Kinetochore,Nucleus. |