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FLASH GENE
Symbol RMI1 contributors: mct/npt - updated : 11-09-2018
HGNC name RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)
HGNC id 25764
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 liver   highly
Lymphoid/Immunelymph node   highly
Reproductivemale systemtestis  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal portion of RMI1 (residues 1–211) responsible for binding both BLM and TOP3A (Singh 2008)
  • three-helix bundle domain, an OB-fold domain (OB1) at the N terminus,
  • DNA binding activity resides in the C-terminal third, and a second OB-fold domain (OB2) at the C terminus
  • HOMOLOGY
    interspecies homolog to murine 4932432N11Rik
    Homologene
    FAMILY
  • RMI1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • acting by recruiting TOP3A to double Holliday junctions
  • promoting the BLM-dependent dissolution of homologous recombination intermediates
  • acting as an essential component of the BLM-associated cellular machinery that maintains genome integrity
  • required for the stability of the BLM/RMI1/TOP3A complex and for the suppression of elevated sister chromatids exchange (SCE)
  • dual-role of RMI1 in embryonic development and tumor suppression
  • RMI1 functions downstream of BLM in promoting replication elongation
  • direct roles of RMI1 in DNA replication and the replication stress response, which could explain the molecular basis for its involvement in suppressing sister chromatid exchange and tumorigenesis
  • functions with BLM and TOP3A to suppress illegitimate recombination
  • RMI1 and TOP3A participate in the DNA replication stress response
  • RMI1 protein level does not change through G1, S and G2 phases, but significantly increases in M phase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • integral component of BLM complexes, and is essential for their stability
  • with the BLM helicase and topoisomerase TOP3A form an evolutionarily conserved complex, termed the BTB complex, that functions to regulate homologous recombination (Raynard 2008)
  • RMI1–RMI2 complex required for BLM complex stability and mitotic phosphorylation of BLM (Xu 2008)
  • BLM forms the BTRR complex with topoisomerase III alpha (TOP3A) and RecQ-mediated genome instability proteins 1 and 2 (RMI1 and RMI2)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating independently with both TOP3A and BLM (BLM-TOP3A-RMI1 dissolvasome is likely indispensable for genome maintenance and cancer avoidance)
  • binds DNA, associates with both BLM and TOP3A, and enhances the ability of the BLM-Topo IIIalpha pair to branch migrate the Holliday junction (HJ) or dissolve the double Holliday junction (dHJ) structure to yield non-crossover recombinants (Raynard 2008)
  • TOP3A is a type IA DNA topoisomerase that functions with BLM and RMI1 to resolve DNA replication and recombination intermediates
  • RMI2 interacts with the C terminus of RMI1
  • ability of RMI1 to interact with BLM and TOP3A is crucial for RMI1 to respond to replication fork stress
  • importance of RMI1 in maintaining genome integrity and normal embryonic development
  • BLM promotes DNA end resection as part of the BLM-TOP3A-RMI1-RMI2 complex
  • TOP3A stimulates DNA unwinding by BLM in a manner that is potentiated by RMI1-RMI2, and the processivity of resection is reliant on the TOP3A-RMI1-RMI2 complex
  • cell & other
    REGULATION
    Other RMI1 expression may be regulated by glucose, at least in part, via E2F expression
    phosphorylation of RMI1 occurs in mitosis
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS