RAD21
Developmental stage
Regulated in a cell cycle-dependent manner: expression increases in late S phase and reaches maximum in G2 at the nucleotide level (PubMed:8812457). Not regulated during the cell cycle (at protein level) (PubMed:11073952).
Domain
The C-terminal part associates with the ATPase head of SMC1A, while the N-terminal part binds to the ATPase head of SMC3.
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
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:11875078, PubMed:12417729).
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.
Sequence Similarities
Belongs to the rad21 family.
Tissue Specificity
Expressed in the gut (at protein level).
Cellular localization
- Double-strand-break repair protein rad21 homolog
- Nucleus
- Nucleus matrix
- Chromosome
- Chromosome
- Centromere
- Cytoplasm
- Cytoskeleton
- Spindle pole
- Associates with chromatin (PubMed:11073952, PubMed:11590136). 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
Alternative names
HR21, KIAA0078, NXP1, SCC1, RAD21, Double-strand-break repair protein rad21 homolog, hHR21, Nuclear matrix protein 1, SCC1 homolog, NXP-1