RAD21

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. [provided by RefSeq, Jul 2008]

RAD21 cohesin complex component

Double-strand-break repair protein rad21 homolog
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).
64-kDa C-terminal product
May promote apoptosis.

Biological Process apoptotic processIEA:UniProtKB-KW
Biological Process cell divisionIEA:UniProtKB-KW
Biological Process DNA recombinationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process double-strand break repairManual Assertion Based On ExperimentTAS:ProtInc
Biological Process establishment of meiotic sister chromatid cohesion1 PublicationIC:ComplexPortal
Biological Process negative regulation of G2/M transition of mitotic cell cycleIEA:Ensembl
Biological Process negative regulation of mitotic metaphase/anaphase transitionIEA:Ensembl
Biological Process positive regulation of sister chromatid cohesionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein localization to chromatinManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process reciprocal meiotic recombinationManual Assertion Based On ExperimentTAS:ProtInc
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process replication-born double-strand break repair via sister chromatid exchangeManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sister chromatid cohesionManual Assertion Based On ExperimentIBA:GO_Central

Double-strand-break repair protein rad21 homolog
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).
64-kDa C-terminal product
Cytoplasm, cytosol
Nucleus

Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4):
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 (MGS):
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.

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).
Phosphorylated; becomes hyperphosphorylated in M phase of cell cycle. The large dissociation of cohesin from chromosome arms during prophase may be partly due to its phosphorylation by PLK1.