SMC1A Antibody – Rat 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: RNA splicing; DNA replication

Chromosomal Location of Human Ortholog: Xp11.22-p11.21

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

Molecular Function: protein binding; protein heterodimerization activity; microtubule motor activity; chromatin binding; ATP binding

Biological Process: meiosis; mitotic sister chromatid segregation; mitotic cell cycle checkpoint; RNA splicing; stem cell maintenance; mitotic sister chromatid cohesion; DNA damage response, signal transduction; sister chromatid cohesion; negative regulation of DNA endoreduplication; DNA repair; nuclear mRNA splicing, via spliceosome; response to radiation; mitotic spindle organization and biogenesis; cell division; gene expression; mitotic cell cycle

Disease: Cornelia De Lange Syndrome 2