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    RTEL1 regulator of telomere elongation helicase 1 [ Homo sapiens (human) ]

    Gene ID: 51750, updated on 22-Apr-2017
    Official Symbol
    RTEL1provided by HGNC
    Official Full Name
    regulator of telomere elongation helicase 1provided by HGNC
    Primary source
    HGNC:HGNC:15888
    See related
    Ensembl:ENSG00000026036 Ensembl:ENSG00000258366 MIM:608833; Vega:OTTHUMG00000032992; Vega:OTTHUMG00000170363
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NHL; RTEL; DKCA4; DKCB5; PFBMFT3; C20orf41
    Summary
    This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
    Orthologs
    Location:
    20q13.33
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (63657810..63696253)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62289163..62327606)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489 Neighboring gene stathmin 3 Neighboring gene uncharacterized LOC105372726 Neighboring gene RTEL1-TNFRSF6B readthrough (NMD candidate) Neighboring gene TNF receptor superfamily member 6b Neighboring gene ADP ribosylation factor related protein 1 Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene Lck interacting transmembrane adaptor 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dyskeratosis congenita, autosomal recessive, 5
    MedGen: C3554656 OMIM: 615190 GeneReviews: Not available
    Compare labs
    Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
    MedGen: CN230446 OMIM: 616373 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Chromosome 7p11.2 (EGFR) variation influences glioma risk.
    NHGRI GWA Catalog
    Genome-wide association scan of dental caries in the permanent dentition.
    NHGRI GWA Catalog
    Genome-wide association study identifies five susceptibility loci for glioma.
    NHGRI GWA Catalog
    Genome-wide association study of glioma and meta-analysis.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog
    Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
    NHGRI GWA Catalog
    Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
    NHGRI GWA Catalog
    • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
      Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Lung fibrosis, organism-specific biosystem (from WikiPathways)
      Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1088, bK3184A7.3, DKFZp434C013

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ATP-dependent DNA helicase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ATP-dependent DNA helicase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    ATP-dependent DNA helicase activity TAS
    Traceable Author Statement
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA duplex unwinding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic telomere maintenance via semi-conservative replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of DNA recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of t-circle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of t-circle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of t-circle formation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of telomere maintenance in response to DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of telomere maintenance via telomere lengthening IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomeric loop disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    replication fork processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    strand displacement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    telomere maintenance in response to DNA damage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    telomeric loop disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomeric loop disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    regulator of telomere elongation helicase 1
    Names
    regulator of telomere length
    NP_001269938.1
    NP_001269939.1
    NP_057518.1
    NP_116575.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033901.1 RefSeqGene

      Range
      5001..43444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001283009.1NP_001269938.1  regulator of telomere elongation helicase 1 isoform 3

      See identical proteins and their annotated locations for NP_001269938.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest protein (isoform 3).
      Source sequence(s)
      AF217795, AW005229, JX119186
      Consensus CDS
      CCDS63331.1
      UniProtKB/Swiss-Prot
      Q9NZ71
      UniProtKB/TrEMBL
      R4IXY3
      Related
      ENSP00000353332.5, OTTHUMP00000184892, ENST00000360203.9, OTTHUMT00000289781
      Conserved Domains (5) summary
      cd13932
      Location:877976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10743
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111272
      DEAD_2; DEAD_2
      pfam13307
      Location:545731
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:1560
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001283010.1NP_001269939.1  regulator of telomere elongation helicase 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences include translation initiation at a downstream AUG and a translational frameshift. The resulting protein (isoform 4) has a shorter N-terminus and distinct C-terminus, compared to isoform 3.
      Source sequence(s)
      AF217795, AK304798, AW005229
      Consensus CDS
      CCDS74751.1
      UniProtKB/Swiss-Prot
      Q9NZ71
      Related
      ENSP00000322287.5, ENST00000318100.8
      Conserved Domains (4) summary
      cd13932
      Location:654753
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:2520
      rad3; DNA repair helicase (rad3)
      pfam13307
      Location:322508
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:149
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_016434.3NP_057518.1  regulator of telomere elongation helicase 1 isoform 1

      See identical proteins and their annotated locations for NP_057518.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region that results in a translational frameshift, compared to variant 3. The resulting protein (isoform 1) has a distinct C-terminus and is shorter than isoform 3.
      Source sequence(s)
      AF217795, AW005229
      Consensus CDS
      CCDS13531.1
      UniProtKB/Swiss-Prot
      Q9NZ71
      Related
      ENSP00000359035.3, OTTHUMP00000031577, ENST00000370018.7, OTTHUMT00000080173
      Conserved Domains (5) summary
      cd13932
      Location:877976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10743
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111272
      DEAD_2; DEAD_2
      pfam13307
      Location:545731
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:1560
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_032957.4NP_116575.3  regulator of telomere elongation helicase 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 3, one of which results in a translational frameshift. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 3.
      Source sequence(s)
      AF217795, AK302508, AW005229
      Consensus CDS
      CCDS13530.3
      UniProtKB/Swiss-Prot
      Q9NZ71
      Related
      ENSP00000424307.2, OTTHUMP00000221856, ENST00000508582.6, OTTHUMT00000368468
      Conserved Domains (5) summary
      cd13932
      Location:9011000
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10767
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111296
      DEAD_2; DEAD_2
      pfam13307
      Location:569755
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:1560
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      63657810..63696253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      62190825..62229469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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