Structural Maintenance of Chromosomes (SMC) family proteins play critical roles in various nuclear events that require structural changes of chromosomes, including mitotic chromosome organization, DNA recombination and repair and global transcriptional repression. The chromosome proteins are conserved in eukaryotes and can lead to mitotic chromosome segregation defects, suggesting a critical function of SMC family proteins in mitotic chromosome dynamics. SMC1 and SMC3 form a heterodimeric complex required for metaphase progression in mitotic cells. Specifically this SMC1/SMC3 complex is responsible for sister chromatid cohesion during metaphase. A number of cellular factors interact with hSMC1/hSMC3 during cell cycle. The major population of hSMC1/hSMC3 is in a compex with hRAD21 forming the human cohesion complex. Human cohesion complex associates with chromosomes which peaks at S phase and dissociates from chromosomes during G2/M transition. In addition, a subpopulation of hSMC1/hSMC3 associates tightly with nuclear matrix and centrosomes during interphase. A subset of hSMC1/hSMC3 is localized to spindle poles, spindles and kinetochores during mitosis when cohesin is in the cytoplasm. hSMC1/hSMC3 is required for spindle aster formation in vitro and reacts with nuclear mitotic apparatus protein in vivo.

CDLS2; SMC1; Segregation of mitotic chromosomes 1; Segregation of mitotic chromosomes like 1; SMC 1; SMC1A; SMC1alpha; SMC1alpha protein; SMC1B; SMC1BETA; SMC1beta protein; SMC1L1; SMC1L2; SMCB; Structural maintenance of chromosome 1 like 1 protein; Structural maintenance of chromosome 1 like 2 protein; structural maintenance of chromosomes 1-like 2 (yeast); Structural maintenance of chromosomes 1A; Structural maintenance of chromosomes 1B; Structural Maintenance of Chromosomes-1 Like 1; SMC1A_HUMAN.

Human,Mouse,Rat,Chicken,Dog,Pig,Cow,Horse,Sheep,GuineaPig

IHC,IF,ICC

IHC 1:100-500
IF 1:100-500
ICC 1:100-1:400

136kD

27127

Q14683

https://www.uniprot.org/uniprotkb/Q14683

Nucleus. Chromosome. Chromosome, centromere, kinetochore. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesion complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesion complexes remain. At anaphase, the RAD21 subunit of the cohesion complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesion complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin during G1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integral component of the functional centromere-kinetochore complex at the kinetochore region during mitosis

The disease is caused by mutations affecting the gene represented in this entry.


Disease description:A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

KLH conjugated Synthesised phosphopeptide derived from human SMC1 around the phosphorylation site of Ser360

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.