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FLASH GENE
Symbol RECQL5 contributors: mct - updated : 18-01-2019
HGNC name RecQ protein-like 5
HGNC id 9950
Location 17q25.1      Physical location : 73.622.950 - 73.663.269
Synonym name
  • RECQ5 beta
  • RecQ protein 5
  • Synonym symbol(s) REQL5, FLJ90603, RECQ5
    EC.number 3.6.1.-/3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 40.32 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SLC16A5 17q25.3 solute carrier family 16 (monocarboxylic acid transporters), member 5 FLJ22160 17q25.2 hypothetical protein FLJ22160 NT5C 17q25.3 5', 3'-nucleotidase, cytosolic HN1 17q25.2 hematological and neurological expressed 1 SMT3H2 17q25.3 SMT3 suppressor of mif two 3 homolog 2 (yeast) PCNT1 17q25 pericentrin 1 GGA3 17q25.3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 MRPS7 17q23-25 mitochondrial ribosomal protein S7 AD023 17q25.2 AD023 protein SLC25A19 17q25.3 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 GRB2 17q24.3-q25 growth factor receptor-bound protein 2 KIAA0195 17q25.3 growth factor receptor-bound protein 2 CASKIN2 17q25.3 CASK interacting protein 2 LOC283989 17q25.3 hypothetical protein LOC283989 LLGL2 17q24-q25 lethal giant larvae homolog 2 (Drosophila) MYO15B 17q25 myosin XVB, pseudogene LOC390815 17 similar to Myosin XV (Unconventional myosin-15) RECQL5 17q25 RecQ protein-like 5 HCNGP 17q25.3 transcriptional regulator protein ITGB4 17q24.3 integrin, beta 4 GALK1 17q24 galactokinase 1 H3F3B 17q25 H3 histone, family 3B (H3.3B) KIAA1753 17q25.3 KIAA1753 protein UNC13D 17q25.3 unc-13 homolog D (C. elegans) WBP2 17q25 WW domain binding protein 2 TRIM47 17q24.q25 tripartite motif-containing 47 LOC201292 17q25.3 hypothetical protein LOC201292 MRPL38 17q23-q25 mitochondrial ribosomal protein L38 FBF-1 17q25.3 Fas binding protein 1 ACOX1 17q25.1 acyl-Coenzyme A oxidase 1, palmitoyl CDK3 17q25 cyclin-dependent kinase 3 EVPL 17q24.2-q24.3 envoplakin SRP68 17q25,1 signal recognition particle 68kDa GALR2 17q25.3 galanin receptor 2 LGICZ 17q25.3 ligand-gated ion channel subunit EXO70 17q25.3 ligand-gated ion channel subunit FOXJ1 17q forkhead box J1 KIAA1917 17q25.3 KIAA1917 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 3733 - 991 localizes to the nucleus 2012 22973052
  • isoform 1, RecQ5-beta
  • fragments of RECQ5beta including the intact zinc-binding motif, located immediately downstream of the helicase domain, exhibit much reduced strand-annealing activity but are proficient in DNA unwinding
  • also found in nuclear chromatin fractions and associated with the coding regions of the LDL (low-density lipoprotein) receptor and beta-actin genes
  • association with RNA polymerase II and possible role in transcription (PMID: 18419580)
  • 9 - 1759 - 435 localize to the cytoplasm 2012 22973052
  • isoform 2, RecQ5-gamma
  • 8 - 3710 - 410 localize to the cytoplasm 2012 22973052
  • isoform 3, RecQ5-alpha
  • comprised of the conserved helicase domain only, and possesses neither ATPase nor DNA-unwinding activities, but surprisingly displays a strong strand-annealing activity
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven RecQ helicase domains
  • a zinc-binding motif highly conserved among these helicases, but does not have a substantial structural similarity with any other known zinc-finger folds
  • two conserved regions as KIX and SRI domains, already known in transcriptional regulators for Pol II (KIX domain binds both initiation (Pol IIa) and elongation (Pol IIo) forms of the polymerase, whereas the SRI domain interacts only with the elongation form)
  • HOMOLOGY
    interspecies homolog to E.coli RecQ
    Homologene
    FAMILY
  • RecQ family of DNA helicases
  • RecQ subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text migrates to the nucleus and exists exclusively in the nucleoplasm
    basic FUNCTION
  • DNA helicase with an intrinsic DNA strand-annealing function residing in a separate domain
  • may promote regression of stalled replication forks to facilitate the bypass of replication-blocking lesions by template-switching
  • ATP-dependent 3'-5' DNA helicase that can promote migration of Holliday junctions
  • possesses an intrinsic DNA strand-annealing activity that is inhibited by RPA1
  • may have an important role in DNA metabolism and may also be related to a distinct genetic disease
  • playing a role at the interface of transcription and genomic stability
  • important tumor suppressor that may act by preventing inappropriate homologous recombination events via Rad51 presynaptic filament disruption
  • might play completely separate roles in transcription and genome integrity and may only be involved in transcription
  • specifically inhibits the 3'-->5' exonuclease activity of MRE11
  • recruited by the MRN complex to sites of DNA damage to regulate DNA repair
  • inhibits both initiation and elongation of transcription, without the helicase activity
  • promotes genome stabilization through two parallel mechanisms: by participation in homologous recombination-dependent DNA repair as a RecQ helicase and by regulating the initiation of Pol II to reduce transcription-associated replication impairment and recombination
  • may play a role in the stabilization and/or restart of stalled replication forks
  • ability of RecQL5 to regulate recombination, replication, and transcription makes it a crucial guardian of genome integrity
  • promotes genomic stability by regulating homologous recombination
  • plays a role in the maintenance of genomic stability during transcription
  • role for RECQL5 in preventing transcription-associated DSBs during replication
  • RECQL5 modulates likely and/or directly participates in base excision repair of endogenous DNA damage, thereby promoting chromosome stability in normal human cells
  • promotes chromosome stability in normal human cells by playing a nonredundant and unique role in Base excision repair (BER), specifically modulating and/or directly participating in BER-mediated repair of endogenous DNA damage
  • RECQL5 is the one human RECQ helicase expressed independently of the cell cycle, and this enzyme appears to play a specialized role in the repair of endogenous DNA damage
  • RECQL5 is essential for cell survival in the absence of WRN
  • promotes repair of DNA double-strand breaks by synthesis-dependent strand annealing
  • RECQL5 is a general elongation factor that is important for preserving genome stability during transcription
  • controls transcript elongation and suppresses genome instability associated with transcription stress
  • RECQL5 is a critical regulator of genome stability in myeloproliferative neoplasms (MPNs)
  • is one of five human RecQ proteins and is particularly versatile in this regard, forming protein complexes with a diverse set of cellular partners in order to coordinate its helicase activity to various processes including replication, recombination and DNA repair
  • RECQL5 co-operates with WRN on synthetic stalled replication fork-like structures and stimulates its helicase activity on DNA fork duplexes
  • RECQL5 plays both co-operative and complementary roles with WRN
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constitutively associated with the MRN complex through MRE11 and NBS1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RNA polymerase II (only member of the RECQ family that is associated with RNA polymerase II)
  • binds the Rad51 recombinase and inhibits Rad51-mediated D-loop formation
  • associate with a number of DNA-processing proteins, including Rad51, topoisomerase 3{alpha} (TOP3A) and TOP3B , proliferating cell nuclear antigen (PCNA
  • associates with RNAPII-transcribed genes in a manner dependent on the SRI motif
  • RECQL5 plays both co-operative and complementary roles with WRN
  • interacts with POLR2A and inhibits transcription of protein-encoding genes
  • dual mode of transcriptional repression by RECQL5 that includes structural mimicry of the POLR2A-TCEA1 interaction
  • RECQL5 helicase promotes TOP1 SUMOylation by facilitating the interaction between PIAS1, SRSF1 and TOP1
  • PARP1 and PAR (PolyADP ribose) actively, and in some instances differentially, regulate the activities and cellular localization of RECQL5 and WRN
  • RECQL5 associates with transcription complexes in DNA replication foci and counteracts replication fork stalling in POLR2A- and POLR1A-transcribed genes, suggesting that RECQL5 exerts its genome-stabilizing effect by acting at sites of replication-transcription collisions (
  • RECQL5 removes RAD51 filaments stabilizing stalled replication forks at common fragile sites (CFSs) and hence facilitates CFS cleavage by MUS81-EME1
  • cell & other
    REGULATION
    Other upregulated at the G2-M stage of the cell cycle
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    downregulated in osteosarcoma tissues and cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    inhibition of RECQL5 activity has potential as a new target for treatment of urothelial carcinoma of the bladder (UCC)
    cancerbone 
    may be a potential therapeutic target for osteosarcoma treatment
    ANIMAL & CELL MODELS
    RecQL5/ mice exhibit an increased incidence of cancer, a phenotype common to all RecQ helicase syndromes