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    Rtel1 regulator of telomere elongation helicase 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362288, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rtel1provided by RGD
    Official Full Name
    regulator of telomere elongation helicase 1provided by RGD
    Primary source
    RGD:1306721
    See related
    EnsemblRapid:ENSRNOG00000027513 AllianceGenome:RGD:1306721
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1306721
    Summary
    Predicted to enable ATP binding activity; DNA helicase activity; and DNA polymerase binding activity. Predicted to be involved in DNA duplex unwinding; DNA metabolic process; and regulation of DNA metabolic process. Predicted to be located in chromosome, telomeric region; nuclear membrane; and nuclear speck. Predicted to be active in nucleus. Biomarker of silicosis. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive dyskeratosis congenita 5; female breast cancer; gastric adenocarcinoma; high grade glioma (multiple); and lung disease (multiple). Orthologous to human RTEL1 (regulator of telomere elongation helicase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 145.6), Lung (RPKM 115.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Rtel1 in Genome Data Viewer
    Location:
    3q43
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (188778329..188842877)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (168427247..168465349)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (176818012..176856531)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene helicase with zinc finger 2 Neighboring gene uncharacterized LOC120101833 Neighboring gene glucocorticoid modulatory element binding protein 2 Neighboring gene stathmin 3 Neighboring gene ARF related protein 1 Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene Lck interacting transmembrane adaptor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Genetic variants in RTEL1 influencing telomere length are associated with prostate cancer risk. Gu CY, et al. J Cancer, 2019. PMID 31762827, Free PMC Article
    2. Genetic analysis of the relation of telomere length-related gene (RTEL1) and coronary heart disease risk. Lu S, et al. Mol Genet Genomic Med, 2019 Mar. PMID 30623606, Free PMC Article
    3. Association analysis of RTEL1 variants with risk of adult gliomas in a Korean population. Namgoong S, et al. PLoS One, 2018. PMID 30462709, Free PMC Article
    4. Silica inhalation altered telomere length and gene expression of telomere regulatory proteins in lung tissue of rats. Shoeb M, et al. Sci Rep, 2017 Dec 11. PMID 29230030, Free PMC Article
    5. Association between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han population. Ding Y, et al. Int J Chron Obstruct Pulmon Dis, 2017. PMID 28360516, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H2AZ histone chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent H3-H4 histone complex chaperone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA clamp loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA helicase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin extrusion motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cohesin loader activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables forked DNA-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables four-way junction helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables single-stranded 3'-5' DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA duplex unwinding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA strand displacement ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in chromatin looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic telomere maintenance via semi-conservative replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of t-circle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of t-circle formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of telomere maintenance in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomere capping ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomere maintenance via telomere lengthening ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of telomeric loop disassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in replication fork processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomere maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in telomere maintenance in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in telomeric loop disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomeric loop disassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    regulator of telomere elongation helicase 1
    Names
    helicase-like protein NHL
    NP_001178786.1
    XP_006235834.1
    XP_006235835.1
    XP_006235836.1
    XP_006235837.1
    XP_006235838.1
    XP_006235840.1
    XP_038961489.1
    XP_038961491.1
    XP_038961496.1
    XP_063140312.1
    XP_063140313.1
    XP_063140314.1
    XP_063140315.1
    XP_063140317.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001191857.2 → NP_001178786.1  regulator of telomere elongation helicase 1 isoform 1

      See identical proteins and their annotated locations for NP_001178786.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/Swiss-Prot
      Q5RJZ1
      UniProtKB/TrEMBL
      A0A8I6AMG5
      Related
      ENSRNOP00000094899.1, ENSRNOT00000098539.2
      Conserved Domains (5) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111 → 272
      DEAD_2; DEAD_2
      pfam13307
      Location:545 → 731
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:15 → 86
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001434393.1 → NP_001421322.1  regulator of telomere elongation helicase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A0G2JVG0

    3. NM_001434394.1 → NP_001421323.1  regulator of telomere elongation helicase 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A0G2JVG0

    4. NM_001434395.1 → NP_001421324.1  regulator of telomere elongation helicase 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A0G2JVG0

    5. NM_001434396.1 → NP_001421325.1  regulator of telomere elongation helicase 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A0G2JVG0, A0A8I6A8F3

    6. NM_001434397.1 → NP_001421326.1  regulator of telomere elongation helicase 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A0G2JVG0

    7. NM_001434399.1 → NP_001421328.1  regulator of telomere elongation helicase 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A0G2JVG0, A0A8I6A605

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      188778329..188842877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063284242.1 → XP_063140312.1  regulator of telomere elongation helicase 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JVG0

    2. XM_006235773.5 → XP_006235835.1  regulator of telomere elongation helicase 1 isoform X1

      See identical proteins and their annotated locations for XP_006235835.1

      UniProtKB/TrEMBL
      A0A0G2JVG0
      Conserved Domains (2) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)

    3. XM_006235772.5 → XP_006235834.1  regulator of telomere elongation helicase 1 isoform X1

      Related
      ENSRNOP00000051909.4, ENSRNOT00000055030.5
      Conserved Domains (2) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)

    4. XM_006235774.4 → XP_006235836.1  regulator of telomere elongation helicase 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JVG0
      Conserved Domains (5) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111 → 272
      DEAD_2; DEAD_2
      pfam13307
      Location:545 → 731
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:15 → 86
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_006235775.5 → XP_006235837.1  regulator of telomere elongation helicase 1 isoform X3

      Conserved Domains (5) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111 → 272
      DEAD_2; DEAD_2
      pfam13307
      Location:545 → 731
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:15 → 86
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    6. XM_063284243.1 → XP_063140313.1  regulator of telomere elongation helicase 1 isoform X4

    7. XM_006235776.5 → XP_006235838.1  regulator of telomere elongation helicase 1 isoform X5

      UniProtKB/TrEMBL
      A0A0G2JVG0
      Related
      ENSRNOP00000088333.1, ENSRNOT00000100640.2
      Conserved Domains (5) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:111 → 272
      DEAD_2; DEAD_2
      pfam13307
      Location:545 → 731
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:15 → 86
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    8. XM_039105563.2 → XP_038961491.1  regulator of telomere elongation helicase 1 isoform X9

      Conserved Domains (2) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)

    9. XM_039105561.2 → XP_038961489.1  regulator of telomere elongation helicase 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JVG0
      Conserved Domains (2) summary
      cd13932
      Location:877 → 976
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 743
      rad3; DNA repair helicase (rad3)

    10. XM_063284244.1 → XP_063140314.1  regulator of telomere elongation helicase 1 isoform X6

      UniProtKB/TrEMBL
      A0A8I6AMG5

    11. XM_063284245.1 → XP_063140315.1  regulator of telomere elongation helicase 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I6AMG5

    12. XM_006235778.5 → XP_006235840.1  regulator of telomere elongation helicase 1 isoform X7

      UniProtKB/TrEMBL
      A0A8I6AMG5
      Conserved Domains (4) summary
      cd13932
      Location:654 → 753
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:12 → 520
      rad3; DNA repair helicase (rad3)
      pfam13307
      Location:322 → 508
      Helicase_C_2; Helicase C-terminal domain
      cl21455
      Location:10 → 49
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    13. XM_063284247.1 → XP_063140317.1  regulator of telomere elongation helicase 1 isoform X11

    14. XM_039105568.2 → XP_038961496.1  regulator of telomere elongation helicase 1 isoform X10

      Conserved Domains (2) summary
      cd13932
      Location:454 → 553
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:29 → 320
      rad3; DNA repair helicase (rad3)

    RNA

    1. XR_010064670.1 RNA Sequence

    2. XR_010064671.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5RJZ1.2 GenPept UniProtKB/Swiss-Prot:Q5RJZ1

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