Rad21 ist ein Gen, das durch das Symbol RAD21 kodiert wird. Es ist auch bekannt als: Double-strand-break repair protein rad21 homolog; hHR21; Nuclear matrix protein 1; NXP-1; SCC1 homolog; HR21; KIAA0078; NXP1; SCC1. Rad21 hat eine Masse von 71.69kDa, eine Aminosäurelänge von 631, und ist an folgenden Krankheiten beteiligt: Cornelia de Lange syndrome 4; Mungan syndrome.
Wir bieten 8 antikörper gegen Rad21, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA, ICC/IF, IP and ChIP mit Proben abgeleitet von Human, Maus, Ratte, Hamster und S. pombe.
Gen- und Proteininformationen
UniProt Zusammenfassung
As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions (PubMed:11509732). The cohesin complex may also play a role in spindle pole assembly during mitosis (PubMed:11590136). In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome (By similarity). May control RUNX1 gene expression (Probable). Binds to and represses APOB gene promoter (PubMed:25575569). May play a role in embryonic gut development, possibly through the regulation of enteric neuron development (By similarity).
Entrez Zusammenfassung
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells.
Gewebespezifität
Expressed in the gut (at protein level).
Rolle bei Krankheiten
Cornelia de Lange syndrome 4: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
Mungan syndrome: An autosomal recessive disease characterized by visceral neuromyopathy, intestinal dysmotility and chronic intestinal pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a variety of cardiac valve or septal defects such as membranous ventricular septal defect, pulmonary and tricuspid valve regurgitation.
Sequenzähnlichkeiten
Belongs to the rad21 family.
Posttranslationale Modifikation
Cleaved by separase/ESPL1 at the onset of anaphase; this cleavage is required for sister chromatid separation and cytokinesis (PubMed:11509732). Cleaved by caspase-3/CASP3 or caspase-7/CASP7 at the beginning of apoptosis (PubMed:12417729, PubMed:11875078).
Zellort
Nucleus. Nucleus matrix. Chromosome. Chromosome > Centromere. Cytoplasm > Cytoskeleton > Spindle pole.
Associates with chromatin (PubMed:11590136, PubMed:11073952). Before prophase, scattered along chromosome arms (PubMed:11073952). During prophase and prometaphase, most cohesins dissociate from the arms of condensing chromosome, possibly through PLK1-mediated phosphorylation (PubMed:11931760). A small amount of cohesin remains in centromeric regions and is removed from chromosomes only at the onset of anaphase. At anaphase, cleavage by separase/ESPL1 leads to the dissociation of cohesin from chromosomes and chromosome separation (PubMed:11073952, PubMed:11509732).
