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    Rtel1 regulator of telomere elongation helicase 1 [ Mus musculus (house mouse) ]

    Gene ID: 269400, updated on 23-Jun-2021

    Summary

    Official Symbol
    Rtel1provided by MGI
    Official Full Name
    regulator of telomere elongation helicase 1provided by MGI
    Primary source
    MGI:MGI:2139369
    See related
    Ensembl:ENSMUSG00000038685
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rtel; AI451565; AW540478
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 9.4), CNS E14 (RPKM 9.2) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Rtel1 in Genome Data Viewer
    Location:
    2; 2 H4
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (180961504..180998409)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (181319711..181356616)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (181054429..181091321)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene proviral integration site 2 pseudogene Neighboring gene stathmin-like 3 Neighboring gene ADP-ribosylation factor related protein 1 Neighboring gene zinc finger, CCCH-type with G patch domain Neighboring gene zinc finger and BTB domain containing 46 Neighboring gene Lck interacting transmembrane adaptor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    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
    PubMed 
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables hydrolase 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 iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within DNA repair 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
     
    acts_upstream_of_or_within cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic telomere maintenance via semi-conservative replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of t-circle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of t-circle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in strand displacement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomere maintenance in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomeric D-loop disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomeric loop disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in telomeric loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomeric loop disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomeric loop disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    regulator of telomere elongation helicase 1
    Names
    DEAH helicase
    regulator of telomere length
    NP_001001882.3
    NP_001160137.1
    NP_001160138.1
    NP_001160139.1
    NP_001160140.1
    NP_001350000.1
    XP_006500696.1
    XP_006500700.1
    XP_006500703.1
    XP_006500704.1
    XP_006500705.1

    NCBI Reference Sequences (RefSeq)

    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_001001882.3NP_001001882.3  regulator of telomere elongation helicase 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK173097, BY023099
      Consensus CDS
      CCDS17208.1
      UniProtKB/Swiss-Prot
      Q0VGM9
      Related
      ENSMUSP00000053120.9, ENSMUST00000054622.15
      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:1586
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001166665.1NP_001160137.1  regulator of telomere elongation helicase 1 isoform 2

      See identical proteins and their annotated locations for NP_001160137.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK173097, BC145658, BY023099
      Consensus CDS
      CCDS50849.1
      UniProtKB/Swiss-Prot
      Q0VGM9
      Related
      ENSMUSP00000104442.2, ENSMUST00000108814.8
      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:1586
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. NM_001166666.1NP_001160138.1  regulator of telomere elongation helicase 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK173097, BY023099
      Consensus CDS
      CCDS50851.1
      UniProtKB/Swiss-Prot
      Q0VGM9
      Related
      ENSMUSP00000096571.5, ENSMUST00000098971.11
      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:1586
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. NM_001166667.1NP_001160139.1  regulator of telomere elongation helicase 1 isoform 4

      See identical proteins and their annotated locations for NP_001160139.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (4) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK173097, BY023099
      Consensus CDS
      CCDS50852.1
      UniProtKB/Swiss-Prot
      Q0VGM9
      Related
      ENSMUSP00000104443.2, ENSMUST00000108815.8
      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:1586
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. NM_001166668.1NP_001160140.1  regulator of telomere elongation helicase 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (5) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK173097, BY023099
      Consensus CDS
      CCDS50850.1
      UniProtKB/Swiss-Prot
      Q0VGM9
      Related
      ENSMUSP00000043563.10, ENSMUST00000048608.16
      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:1586
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    6. NM_001363071.1NP_001350000.1  regulator of telomere elongation helicase 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL928965
      Conserved Domains (2) summary
      cd13932
      Location:568667
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      cl26947
      Location:143434
      HBB; Helical and beta-bridge domain

    RNA

    1. NR_030710.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an internal segment and has a split 3' exon, as compared to variant 1. The resulting transcript is a nonsense-mediated mRNA decay (NMD) candidate, so is probably not making a protein.
      Source sequence(s)
      AK173097, BC144977

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      180961504..180998409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500642.4XP_006500705.1  regulator of telomere elongation helicase 1 isoform X5

      Conserved Domains (2) 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)
    2. XM_006500641.3XP_006500704.1  regulator of telomere elongation helicase 1 isoform X4

      Conserved Domains (2) 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)
    3. XM_006500633.3XP_006500696.1  regulator of telomere elongation helicase 1 isoform X1

      See identical proteins and their annotated locations for XP_006500696.1

      Conserved Domains (2) 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)
    4. XM_006500637.3XP_006500700.1  regulator of telomere elongation helicase 1 isoform X2

      Conserved Domains (2) 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)
    5. XM_006500640.3XP_006500703.1  regulator of telomere elongation helicase 1 isoform X3

      Conserved Domains (2) 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)

    RNA

    1. XR_375396.4 RNA Sequence

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