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FLASH GENE
Symbol RTEL1 contributors: mct/npt/pgu - updated : 06-04-2013
HGNC name regulator of telomere elongation helicase 1
HGNC id 15888
Corresponding disease
DKC7 dyskeratosis congenita 7
Location 20q13.33      Physical location : 62.289.646 - 62.327.600
Synonym name
  • chromosome 20 open reading frame 41
  • novel helicase-like
  • telomere length regulator
  • Synonym symbol(s) bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL, C20orf41
    EC.number 3.6.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 38.90 kb     35 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 4462 - 1219 - 2011 21097466
    35 - 4651 - 1243 . variant only in testis 2011 21097466
  • includes an alternative 24-amino acid exon
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven characteristic helicase motifs
  • a C-terminal PIP box
  • HOMOLOGY
    Homologene
    FAMILY
  • helicase family
  • RAD3/XPD subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • is an important regulator of cell survival
  • implicated as an antirecombinase in that it disrupts D-loop formation during homologous recombination and is essential for the disassembly of T-loops during DNA replication
  • is required to prevent excess meiotic
  • negatively regulates recombination by disassembling D loop–recombination intermediates during DNA repair
  • implements the second level of crossover control by promoting noncrossovers
  • essential iron-sulfur cluster-containing helicase, that promotes synthesis-dependent strand annealing to direct DNA double-strand breaks into non-crossover outcomes during mitotic repair and in meiosis
  • role in telomere maintenance and homologous recombination
  • maintain telomere integrity in part by catalyzing T-loop disassembly during S phase
  • performs two distinct functions at telomeres: it disassembles T loops and also counteracts telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere
  • key protein for DNA replication, recombination, and repair and efficient elongation of telomeres by telomerase
  • helicase essential for telomere maintenance and regulation of homologous recombination
  • required to ensure genome integrity
  • implicated in telomere protection and elongation
  • functional RTEL1 contributes to T-circle formation, consistently with the apparently reduced T-circle formation in cells carrying RTEL1 mutations
  • essential DNA helicase that disassembles telomere loops (T loops) and suppresses telomere fragility to maintain the integrity of chromosome ends
  • plays a critical role in both telomere and genome-wide replication, which is crucial for genetic stability and tumor avoidance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with the shelterin protein TERF1, providing a potential recruitment mechanism of RTEL1 to telomeres
  • also associates with the replisome through binding to proliferating cell nuclear antigen (PCNA)
  • RTEL1-PCNA interaction promotes normal genome replication
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DKC7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    adenocarcinomas of the esophagus, stomach, colon, and rectum
    constitutional       loss of function
    loss of HR (Homologous recombination) control after deregulation of RTEL1 may be a critical event that drives genome instability and cancer
    Susceptibility
  • to high-grade glioma
  • to glioblastoma (GBM
  • Variant & Polymorphism other
  • variants associated with high-grade glioma
  • variant rs2297440 and rs6010620 in RTEL1 increased risk of GBM
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mRtel1-deficient mouse embryonic stem cells showed sensitivity to a range of DNA-damaging agents, highlighting its role in replication and genome maintenance