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

    Gene ID: 269400, updated on 2-Oct-2018

    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 Vega:OTTMUSG00000016649
    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

    Genomic context

    See Rtel1 in Genome Data Viewer
    Location:
    2; 2 H4
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (181319711..181356616)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (181054429..181091321)

    Chromosome 2 - NC_000068.7Genomic 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    ATP-dependent DNA helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP-dependent DNA helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP-dependent DNA helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATP-dependent helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA polymerase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    helicase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
     
    iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA duplex unwinding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic telomere maintenance via semi-conservative replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of DNA recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of t-circle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of t-circle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of t-circle formation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of telomere maintenance in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleobase-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance via telomere lengthening ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomeric loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    replication fork processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    strand displacement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    telomere maintenance in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomeric D-loop disassembly TAS
    Traceable Author Statement
    more info
    PubMed 
    telomeric loop disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    telomeric loop disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric loop disassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomeric loop disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    XP_006500696.1
    XP_006500699.1
    XP_006500700.1
    XP_006500701.1
    XP_006500702.1
    XP_006500703.1
    XP_006500704.1
    XP_006500705.1
    XP_006500706.1
    XP_011238243.1
    XP_017174333.1

    NCBI Reference Sequences (RefSeq)

    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
      ENSMUSP00000053120.8, OTTMUSP00000017993, ENSMUST00000054622.14, OTTMUST00000040273
      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
      ENSMUSP00000104442.1, OTTMUSP00000017997, ENSMUST00000108814.7, OTTMUST00000040279
      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
      ENSMUSP00000096571.4, OTTMUSP00000017994, ENSMUST00000098971.10, OTTMUST00000040275
      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
      ENSMUSP00000104443.1, OTTMUSP00000017996, ENSMUST00000108815.7, OTTMUST00000040278
      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
      ENSMUSP00000043563.9, OTTMUSP00000017995, ENSMUST00000048608.15, OTTMUST00000040277
      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 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      181319711..181356616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500633.2XP_006500696.1  regulator of telomere elongation helicase 1 isoform X1

      See identical proteins and their annotated locations for XP_006500696.1

      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. XM_006500641.3XP_006500704.1  regulator of telomere elongation helicase 1 isoform X6

      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. XM_006500637.2XP_006500700.1  regulator of telomere elongation helicase 1 isoform X2

      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. XM_006500639.2XP_006500702.1  regulator of telomere elongation helicase 1 isoform X4

      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. XM_006500640.2XP_006500703.1  regulator of telomere elongation helicase 1 isoform X5

      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. XM_006500642.2XP_006500705.1  regulator of telomere elongation helicase 1 isoform X7

      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
    7. XM_006500638.3XP_006500701.1  regulator of telomere elongation helicase 1 isoform X3

      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
    8. XM_006500636.3XP_006500699.1  regulator of telomere elongation helicase 1 isoform X1

      See identical proteins and their annotated locations for XP_006500699.1

      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
    9. XM_017318844.1XP_017174333.1  regulator of telomere elongation helicase 1 isoform X9

    10. XM_006500643.1XP_006500706.1  regulator of telomere elongation helicase 1 isoform X8

      Conserved Domains (2) summary
      cd13932
      Location:568667
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      pfam13307
      Location:236422
      Helicase_C_2; Helicase C-terminal domain
    11. XM_011239941.2XP_011238243.1  regulator of telomere elongation helicase 1 isoform X10

      Conserved Domains (2) summary
      cd13932
      Location:312411
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      pfam13307
      Location:1166
      Helicase_C_2; Helicase C-terminal domain

    RNA

    1. XR_375395.2 RNA Sequence

      Related
      ENSMUST00000139608.7
    2. XR_375396.2 RNA Sequence

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