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Structural maintenance of chromosomes 1A (HGNC Symbol)
Entrez 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]
Q14683 [Direct mapping] Structural maintenance of chromosomes protein 1A
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
V9GY57 [Direct mapping] Structural maintenance of chromosomes protein 1A
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)