RAD21
entrez
5885
canonical
uniprot
O60216
canonical
ensembl
ENSG00000164754
resolver
ensp
ENSP00000297338
resolver
ensp
ENSP00000427923
resolver
ensp
ENSP00000428158
resolver
ensp
ENSP00000429342
resolver
ensp
ENSP00000430273
resolver
ensp
ENSP00000430524
resolver
ensp
ENSP00000509687
resolver
ensp
ENSP00000570068
resolver
ensp
ENSP00000570069
resolver
ensp
ENSP00000597399
resolver
ensp
ENSP00000628578
resolver
enst
ENST00000297338
resolver
enst
ENST00000517485
resolver
enst
ENST00000517749
resolver
enst
ENST00000519837
resolver
enst
ENST00000520992
resolver
enst
ENST00000522699
resolver
enst
ENST00000687358
resolver
enst
ENST00000900009
resolver
enst
ENST00000900010
resolver
enst
ENST00000927340
resolver
enst
ENST00000958519
resolver
genesymbol
RAD21
resolver
genesymbol_syn
HR21
resolver
genesymbol_syn
KIAA0078
resolver
genesymbol_syn
NXP1
resolver
genesymbol_syn
SCC1
resolver
hgnc
HGNC:9811
resolver
uniprot
A8K0E0
resolver
uniprot
Q15001
resolver
uniprot
Q99568
resolver
uniprot_entry
RAD21_HUMAN
resolver
uniprot_sec
A8K0E0
resolver
uniprot_sec
Q15001
resolver
uniprot_sec
Q99568
resolver
amino_acid_sequence
MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRKAKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRVEEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLEYEDQYKDDNFGEGNDGGILDDKLISNNDGGIFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDSVDPVEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKRKRKLIVDSVKELDSKTIRAQLSDYSDIVTTLDLAPPTKKLMMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPEDLRKRRKGGEADNLDEFLKEFENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKAGQIDPEPVMPPQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEEDEDASGGDQDQEERRWNKRTQQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDIIATPGPRFHII
uniprot
proteins
disease_involvement
DISEASE: Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4) [MIM:614701]: 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. {ECO:0000269|PubMed:22633399, ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mungan syndrome (MGS) [MIM:611376]: 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. {ECO:0000269|PubMed:25575569}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q61550, ECO:0000250|UniProtKB:Q6TEL1, ECO:0000269|PubMed:11509732, ECO:0000269|PubMed:11590136, ECO:0000269|PubMed:25575569, ECO:0000305|PubMed:25575569}.; FUNCTION: [64-kDa C-terminal product]: May promote apoptosis. {ECO:0000269|PubMed:11875078, ECO:0000269|PubMed:12417729}.
uniprot
proteins
mass_dalton
71690
uniprot
proteins
mutagenesis
MUTAGEN 1..126; /note="Missing: Abolishes interaction with SMC1."; /evidence="ECO:0000269|PubMed:12198550"; MUTAGEN 126..282; /note="Missing: Abolishes binding to SMARCA5."; /evidence="ECO:0000269|PubMed:12198550"; MUTAGEN 172; /note="R->A: Abolishes first cleavage by ESPL1, no effect on nuclear localization."; /evidence="ECO:0000269|PubMed:11509732"; MUTAGEN 276..280; /note="DSPDS->AAPAA: Loss of cleavage by caspase-3 or caspase-7."; /evidence="ECO:0000269|PubMed:12417729"; MUTAGEN 279; /note="D->A,E: Loss of cleavage by caspase-3 or caspase-7."; /evidence="ECO:0000269|PubMed:11875078, ECO:0000269|PubMed:12417729"; MUTAGEN 282; /note="D->E: No effect on cleavage by caspase-3 or caspase-7."; /evidence="ECO:0000269|PubMed:11875078"; MUTAGEN 450; /note="R->A: Abolishes second cleavage by ESPL1, no effect on nuclear localization."; /evidence="ECO:0000269|PubMed:11509732
uniprot
proteins
post_translational_modification
PTM: 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). {ECO:0000269|PubMed:11509732, ECO:0000269|PubMed:11875078, ECO:0000269|PubMed:12417729}.; PTM: 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. {ECO:0000269|PubMed:11073952}.
uniprot
proteins
protein_family
Rad21 family
uniprot
proteins
pubmed
10623634
uniprot
proteins
pubmed
10931856
uniprot
proteins
pubmed
11073952
uniprot
proteins
pubmed
11483345
uniprot
proteins
pubmed
11509732
uniprot
proteins
pubmed
11590136
uniprot
proteins
pubmed
11875078
uniprot
proteins
pubmed
11931760
uniprot
proteins
pubmed
12198550
uniprot
proteins
pubmed
12417729
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15837422
uniprot
proteins
pubmed
17105772
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19696148
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22628566
uniprot
proteins
pubmed
22633399
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25575569
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31334757
uniprot
proteins
pubmed
32409525
uniprot
proteins
pubmed
7584044
uniprot
proteins
pubmed
8812457
uniprot
proteins
sequence_length
631
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Double-strand-break repair protein rad21 homolog]: Nucleus {ECO:0000269|PubMed:11073952, ECO:0000269|PubMed:11509732, ECO:0000269|PubMed:12417729}. Nucleus matrix {ECO:0000269|PubMed:10623634, ECO:0000269|PubMed:11590136}. Chromosome {ECO:0000269|PubMed:11073952, ECO:0000269|PubMed:11590136}. Chromosome, centromere {ECO:0000269|PubMed:11073952}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:11073952, ECO:0000269|PubMed:11590136}. Note=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). {ECO:0000269|PubMed:11073952, ECO:0000269|PubMed:11509732, ECO:0000269|PubMed:11590136, ECO:0000269|PubMed:11931760}.; SUBCELLULAR LOCATION: [64-kDa C-terminal product]: Cytoplasm, cytosol {ECO:0000269|PubMed:11875078, ECO:0000269|PubMed:12417729}. Nucleus {ECO:0000269|PubMed:11875078, ECO:0000269|PubMed:12417729}.
uniprot
proteins