SMC1A Gene

Last updated on: 14.11.2021

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

SMC1A is the acronym for "Structural Maintenance Of Chromosomes 1A". The SMC1a gene is a protein coding gene located on chromosome Xp11.22. The encoded protein is involved in chromosome cohesion during the cell cycle and in DNA repair. It forms the central component of the cohesin complex. The SMC1A gene belongs to the SMC gene family and is located in a region of the X chromosome that escapes X inactivation. Mutations in this gene lead to Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.

EtiologyThis section has been translated automatically.

The correct cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin-protein complex is required for sister chromatid cohesion. The complex consists in part of two structural maintenance of chromosomes (SMC) proteins, SMC3 + either SMC1B or SMCA1. Most cohesin complexes detach from chromosomes before mitosis. The complexes at the kinetochore, however, persist. The protein encoded by SMC1A interacts with BRCA1 and probably plays a role in DNA repair....

Note(s)This section has been translated automatically.

The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large protein ring in which sister chromatids can be held together. In anaphase, the complex is cleaved and detaches from chromatin, allowing sister chromatids to separate. The cohesin complex may also play a role in the assembly of spindle poles during mitosis. Furthermore, it is involved in DNA repair via its interaction with BRCA1 and its associated phosphorylation by ATM or via its phosphorylation by ATR.

LiteratureThis section has been translated automatically.

  1. K. Nasmyth et al. (2005) The structure and function of SMC and kleisin complexes. Annual Review of Biochemistry 74, 595-648
  2. Haering CH et al (2008) The cohesin ring concatenates sister DNA molecules. Nature 454: 297-301.
  3. McNairn AJ et al. (2008) Cohesinopathies: one ring, many obligations. Mutation Research 647: 103-111

Last updated on: 14.11.2021