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FLASH GENE
Symbol RAD21 contributors: mct - updated : 06-12-2017
HGNC name RAD21 homolog (S. pombe)
HGNC id 9811
Corresponding disease
CDLS4 Cornelia de Lange syndrome 4
Location 8q24.11      Physical location : 117.858.173 - 117.887.105
Synonym name
  • nuclear matrix protein 1
  • double-strand-break repair protein rad21 homolog
  • mitotic chromosome determinant 1
  • SCC1 homolog
  • protein involved in DNA double-strand break repair
  • alpha-kleisin
    • Synonym symbol(s) HR21, KIAA0078, NXP1, SCC1, MCD1, FLJ40596, FLJ25655, HRAD21
    DNA
    TYPE like-sequence
    SPECIAL FEATURE head to head
    STRUCTURE 28.98 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D8S547 - D8S98 - D8S1200 - D8S51 - RAD21 - EIF3H - D8S1201 - D8S1216 - D8S1694 - D8S592 - D8S352 - D8S1009 - D8S1205 - D8S1010 - D8S527 - D8S522 - D8S43 - D8S114 - D8S47 - qter
    Authors Hilton (01)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3773 71.7 631 - 2001 110739
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Reproductivemale systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    cell cycle     cell cycle
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two putative nuclear localization signals (NLS)
  • a glutamine, a proline rich regions
  • a region of alternating acidic and basic residues and an acidic stretch
    • HOMOLOGY
    interspecies homolog to yeast S.pombe RAD21
    homolog to yeast cohesin subunit, Scc1p/Mcd1p
    Homologene
    FAMILY rad21 family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • transiently localizes to axial elements after the dissociation of RAD21L1 and REC8 in late pachytene, a period of recombination repair
    • basic FUNCTION
  • involved in holding sister chromatids together during mitosis
  • involved in nucleotide excision repair of ionizing radiation induced DNA double-strand break
  • involved in the repair of double-strand breaks in DNA and is essential for mitotic growth
  • closely related to the invasion and metastasis of cancer cells
  • may have as a critical role in chromatid cohesion in human mitotic cells
  • playing an essential role in the association of kinetochore and microtubules
  • involvement in sister chromatid cohesion
  • alpha-kleisin that closes the tripartite cohesin complex entraping two DNA molecules in mitosis, while its paralog REC8 is essential for meiosis
  • multiunit complex of SMC1A, SMC3 and RAD21, associates with chromatin after mitosis and holds sister chromatids together following DNA replication
  • STAG2, RAD21, SMC1A, SMC3 mutations participate in leukemogenesis through the deregulated expression of genes that are involved in myeloid development and differentiation
  • cohesin ring is a protein complex composed of four core subunits: SMC1A, SMC3, RAD21 and STAG1/STAG2 and is involved in chromosome segregation, DNA repair, chromatin organization and transcription regulation
  • NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation
  • RAD21 cleavage may be a general regulatory mechanism for rapid alteration of cellular chromosome conformation and cohesin-dependent transcription regulation
    • CELLULAR PROCESS cell cycle, progression
    nucleotide, chromatin organization, remodeling
    nucleotide, repair, nucleotide excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of SMC1A, SMC3, RAD21 and STAG1, cohesin complex that is central to the mechanism of sister chromatid cohesion
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with the APPase subunit SNF2H of the cohesin complex resulting in the loading on RAD21 on chromatin
  • cleavage by CAPN1 promotes separation of chromosome arms, which coincides with a calcium-induced partial loss of cohesin at several chromosomal loci
  • RAD21 sumoylation by NSMCE2 promotes sister chromatid homologous recombination (SCR) by antagonizing WAPL at a step after cohesin loading at DSBs and in a way not solely dependent on SMC3 acetylation
  • cohesin proposed DNA exit gate is formed by interactions between RAD21 and the coiled-coil region of SMC3
  • mutant TP53-R248 maintains gain-of-function activity to stimulate cell invasion and induces the related gene expressions through an interaction with RAD21 in human ovarian cancer cells
    • cell & other
    REGULATION
    Other cleaved by separase (ESPL1) required for anaphase and cytokinesis
    cleaved by caspases into a similarly sized 65kDa, carboxyterminal products in cells undergoing apoptosis
    damage-induced RAD21 phosphorylation is involved in the recovery process of cells from checkpoint arrest, and needed for the removal of cohesin by separase after the completion of damage repair )
    ASSOCIATED DISORDERS
    corresponding disease(s) CDLS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypoxia in tumor cells
    tumoral   amplification --over  
    in prostate carcinoma
    tumoral     --low  
    in oral squamous cell carcinoma
    tumoral somatic mutation      
    in myelodysplastic syndromes, chronic myelogenous leukemia and acute myeloid leukemia
    constitutional germinal mutation      
    in chronic intestinal pseudo-obstruction, mutation that disrupt the ability of its product to regulate genes such as RUNX1 and APOB
    Susceptibility
    Variant & Polymorphism
    Candidate gene for CIPO3
    Marker
    Therapy target
    ANIMAL & CELL MODELS