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

Gene ID: 269400, updated on 5-Mar-2024

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 AllianceGenome:MGI:2139369
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
Summary
Enables DNA helicase activity and DNA polymerase binding activity. Involved in DNA duplex unwinding; DNA metabolic process; and regulation of DNA metabolic process. Acts upstream of or within telomere maintenance. Located in chromosome, telomeric region and nucleus. Is expressed in trophectoderm. Human ortholog(s) of this gene implicated in autosomal recessive dyskeratosis congenita 5. Orthologous to human RTEL1 (regulator of telomere elongation helicase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 9.4), CNS E14 (RPKM 9.2) and 28 other tissues See more
Orthologs
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Genomic context

See Rtel1 in Genome Data Viewer
Location:
2 H4; 2 103.63 cM
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2024_02 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)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene proviral integration site 2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10172 Neighboring gene STARR-seq mESC enhancer starr_06749 Neighboring gene stathmin-like 3 Neighboring gene STARR-seq mESC enhancer starr_06750 Neighboring gene STARR-seq mESC enhancer starr_06751 Neighboring gene STARR-positive B cell enhancer ABC_E4532 Neighboring gene ADP-ribosylation factor related protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E11178 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 Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

General gene information

Markers

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
 
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
 
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
 
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
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
involved_in DNA strand displacement IDA
Inferred from Direct Assay
more info
PubMed 
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
 
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
 
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
 
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 
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
 
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 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
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 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/TrEMBL
    Z4YLW7
    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
    A2AU09, A2AU10, A2AU11, A2AU12, A2AU13, A2AU14, Q0VGM9, Q3UM40, Q5F0J8, Q69ZS1, Q6H1L0, Q6H1L1, Q6H1L2, Q6H1L3
    UniProtKB/TrEMBL
    Z4YLW7
    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/TrEMBL
    Z4YLW7
    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/TrEMBL
    Z4YLW7
    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/TrEMBL
    Z4YLW7
    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
    UniProtKB/TrEMBL
    Z4YLW7
    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: GCF_000001635.27-RS_2024_02

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

    UniProtKB/TrEMBL
    Z4YLW7
    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