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FLASH GENE
Symbol RAD51AP1 contributors: mct - updated : 23-03-2015
HGNC name RAD51 associated protein 1
HGNC id 16956
Location 12p13.32      Physical location : 4.647.949 - 4.669.212
Synonym name
  • RAD51-interacting protein
  • nucleic acid-binding protein
  • Synonym symbol(s) PIR51
    DNA
    TYPE functioning gene
    STRUCTURE 21.26 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2269 - 352 - 1997 9396801
    9 - 2218 - 335 - 1997 9396801
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Digestiveintestinesmall intestine  lowly
     intestinelarge intestinecolon lowly
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved WVPP motif reminiscent of the FVPP motif in BRCA2
  • two DNA binding domai, needed for protein function
  • C-terminal portion encompassing AAs 188335 mediates the interaction with DMC1 and is capable of promoting synaptic complex assembly and d-loop formation in conjunction with the DMC1 presynaptic filament , and extreme C terminus appears to be critical for RAD51 interaction
  • HOMOLOGY
    interspecies homolog to murine Rab22
    Homologene
    FAMILY
    CATEGORY DNA associated , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • helps maintain genomic integrity via RAD51 recombinase enhancement
  • required to protect cells from the adverse effects of DNA double-strand break-inducing agents
  • RAD51 accessory protein that specifically stimulates joint molecule formation through the combination of structure-specific DNA binding and physical contact with RAD51
  • may potentially play a role in cell proliferation as well as DNA repair
  • a key accessory factor of RAD51
  • also serves an important role in meiotic homologous recombination
  • important homologous recombination factor that associates with and stimulates the recombinase activity of RAD51
  • potentially, RAD51AP1, with its separate epitopes for binding DMC1 and RAD51, may simultaneously associate with both recombinases to serve as a molecular bridge to bring the two recombinases together in these repair centers
  • serves a key role in homologous recombination-mediated chromosome damage repair
  • CELLULAR PROCESS nucleotide, repair, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to single-stranded and double-stranded DNA
    RNA binding
    small molecule
    protein
  • interact with and enhance the recombinase activity of RAD51
  • functional cooperation is dependent on complex formation between DMC1 and RAD51AP1 and distinct epitopes in RAD51AP1 mediate interactions with RAD51 and DMC1
  • physically interacts with PALB2 (PALB2 functionally cooperates with RAD51AP1 to enhance the recombinase function of RAD51)
  • physical association of RAD51AP1 with the meiosis-specific recombinase DMC1 having a stimulatory effect of RAD51AP1 on the DMC1-mediated D-loop reaction
  • interacts with RAD51 and colocalizes with RAD51 to double strand break sites in cells
  • partners with the meiotic recombinase DMC1, displaying isoform-specific interactions with DMC1
  • serves as a cofactor of both RAD51 and DMC1
  • USP1-WDR48 complex promotes homologous recombination (HR) repair via multiple mechanisms: through FANCD2 deubiquitination, as well as by interacting with RAD51AP1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in the great majority of the intrahepatic cholangiocarcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS