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    RTEL1 regulator of telomere elongation helicase 1 [ Bos taurus (cattle) ]

    Gene ID: 505721, updated on 3-Apr-2024

    Summary

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    Gene symbol
    RTEL1
    Gene description
    regulator of telomere elongation helicase 1
    See related
    Ensembl:ENSBTAG00000021096
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Also known as
    RTEL
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    chromosome: 13
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) 13 NC_037340.1 (54056133..54076900, complement)

    Chromosome 13 - NC_037340.1Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor related protein 1 Neighboring gene TNF receptor superfamily member 6b Neighboring gene stathmin 3 Neighboring gene glucocorticoid modulatory element binding protein 2

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037340.1 Chromosome 13 Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of bovine regulator of telomere length elongation helicase gene (RTEL): molecular cloning, expression distribution, splice variants and DNA methylation profile. Du Z, et al. BMC Mol Biol, 2007 Mar 6. PMID 17338827, Free PMC Article
    2. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. Ballew BJ, et al. PLoS Genet, 2013 Aug. PMID 24009516, Free PMC Article
    3. Unexpected cross-species contamination in genome sequencing projects. Merchant S, et al. PeerJ, 2014. PMID 25426337, Free PMC Article
    4. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cloned a bovine regulator of telomere length elongation helicase (RTEL) homolog and characterized its gene structure, expression distribution, splice variants and profile of DNA methylation around two putative transcription start sites.
      Title: Identification and characterization of bovine regulator of telomere length elongation helicase gene (RTEL): molecular cloning, expression distribution, splice variants and DNA methylation profile.
    Submit: New GeneRIF Correction

    General gene information

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    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables DNA helicase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables DNA polymerase binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA duplex unwinding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in negative regulation of DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in negative regulation of t-circle formation IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in regulation of double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in telomeric loop disassembly IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    regulator of telomere elongation helicase 1
    Names
    regulator of telomere length helicase 1
    NP_001091044.1
    XP_024856142.1
    XP_024856143.1
    XP_024856144.1
    XP_024856145.1
    XP_059748437.1
    XP_059748438.1
    XP_059748439.1
    XP_059748440.1
    XP_059748441.1

    NCBI Reference Sequences (RefSeq)

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    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_001097575.1 → NP_001091044.1  regulator of telomere elongation helicase 1

      See identical proteins and their annotated locations for NP_001091044.1

      Status: PROVISIONAL

      Source sequence(s)
      DQ323153
      UniProtKB/TrEMBL
      F1MWN6
      Related
      ENSBTAP00000028108.7, ENSBTAT00000028108.7
      Conserved Domains (4) summary
      cd13932
      Location:880 → 979
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      TIGR00604
      Location:10 → 741
      rad3; DNA repair helicase (rad3)
      pfam06733
      Location:110 → 271
      DEAD_2; DEAD_2
      pfam13307
      Location:543 → 729
      Helicase_C_2; Helicase C-terminal domain

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037340.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      54056133..54076900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_025000377.2 → XP_024856145.1  regulator of telomere elongation helicase 1 isoform X3

      UniProtKB/TrEMBL
      F1MWN6, F1N079
      Related
      ENSBTAP00000051019.3, ENSBTAT00000052120.3
      Conserved Domains (2) summary
      cd13932
      Location:880 → 979
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      cl26947
      Location:10 → 741
      HBB; Helical and beta-bridge domain

    2. XM_025000376.2 → XP_024856144.1  regulator of telomere elongation helicase 1 isoform X3

      UniProtKB/TrEMBL
      F1MWN6, F1N079
      Conserved Domains (2) summary
      cd13932
      Location:880 → 979
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      cl26947
      Location:10 → 741
      HBB; Helical and beta-bridge domain

    3. XM_059892455.1 → XP_059748438.1  regulator of telomere elongation helicase 1 isoform X3

      UniProtKB/TrEMBL
      F1N079

    4. XM_025000374.2 → XP_024856142.1  regulator of telomere elongation helicase 1 isoform X2

      UniProtKB/TrEMBL
      F1MWN6
      Conserved Domains (2) summary
      cd13932
      Location:888 → 987
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      cl26947
      Location:10 → 749
      HBB; Helical and beta-bridge domain

    5. XM_025000375.2 → XP_024856143.1  regulator of telomere elongation helicase 1 isoform X3

      UniProtKB/TrEMBL
      F1MWN6, F1N079
      Conserved Domains (2) summary
      cd13932
      Location:880 → 979
      HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
      cl26947
      Location:10 → 741
      HBB; Helical and beta-bridge domain

    6. XM_059892454.1 → XP_059748437.1  regulator of telomere elongation helicase 1 isoform X1

    7. XM_059892456.1 → XP_059748439.1  regulator of telomere elongation helicase 1 isoform X4

    8. XM_059892457.1 → XP_059748440.1  regulator of telomere elongation helicase 1 isoform X5

    9. XM_059892458.1 → XP_059748441.1  regulator of telomere elongation helicase 1 isoform X6

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4K436.1 GenPept UniProtKB/Swiss-Prot:A4K436

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