Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
Location 9q21.32      Physical location : 86.595.636 - 86.618.982
Synonym name
  • BLM-Associated Polypeptide, 75 kDa
  • homolog of yeast RecQ-mediated genome instability 1 (RMI1)
  • chromosome 9 open reading frame 76
  • Synonym symbol(s) BLAP75, C9orf76, FLJ12888, RP11-346I8.1, RMI, FAAP75
    DNA
    TYPE functioning gene
    STRUCTURE 23.72 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3508 - 625 - 2017 29042194
    3 - 3410 - 625 - 2017 29042194
    4 - 3584 - 625 - 2017 29042194
    4 - 3471 - 625 - 2017 29042194
    3 - 3395 - 625 - 2017 29042194
    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