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RTEL1 regulator of telomere elongation helicase 1 [ Homo sapiens (human) ]

Gene ID: 51750, updated on 22-May-2016
Official Symbol
RTEL1provided by HGNC
Official Full Name
regulator of telomere elongation helicase 1provided by HGNC
Primary source
HGNC:HGNC:15888
See related
Ensembl:ENSG00000026036 Ensembl:ENSG00000258366 HPRD:15281; MIM:608833; Vega:OTTHUMG00000032992
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NHL; RTEL; DKCA4; DKCB5; PFBMFT3; C20orf41
Summary
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
Orthologs
Location:
20q13.3
Exon count:
35
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (63657810..63696253)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62289163..62327606)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100505771 Neighboring gene stathmin 3 Neighboring gene uncharacterized LOC105372726 Neighboring gene RTEL1-TNFRSF6B readthrough (NMD candidate) Neighboring gene tumor necrosis factor receptor superfamily member 6b Neighboring gene ADP ribosylation factor related protein 1 Neighboring gene zinc finger CCCH-type and G-patch domain containing

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dyskeratosis congenita, autosomal recessive, 5
MedGen: C3554656 OMIM: 615190 GeneReviews: Not available
Compare labs
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
MedGen: CN230446 OMIM: 616373 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
NHGRI GWA Catalog
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog
Genome-wide association study identifies five susceptibility loci for glioma.
NHGRI GWA Catalog
Genome-wide association study of glioma and meta-analysis.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
NHGRI GWA Catalog
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
NHGRI GWA Catalog
  • Cytosolic iron-sulfur cluster assembly, organism-specific biosystem (from REACTOME)
    Cytosolic iron-sulfur cluster assembly, organism-specific biosystemIron-sulfur clusters containing 4 atoms of iron and 4 atoms of sulfur (4Fe-4S clusters) are assembled in the cytosol on a heterotetrameric scaffold composed of NUBP2 and NUBP1 subunits (reviewed in L...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1088, bK3184A7.3, DKFZp434C013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP-dependent DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP-dependent DNA helicase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ATP-dependent DNA helicase activity TAS
Traceable Author Statement
more info
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion 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 ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
DNA repair IEA
Inferred from Electronic Annotation
more info
 
mitotic telomere maintenance via semi-conservative replication ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of t-circle formation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of telomere maintenance in response to DNA damage ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomere maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomeric loop disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
replication fork processing ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
strand displacement TAS
Traceable Author Statement
more info
 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
telomere maintenance in response to DNA damage ISS
Inferred from Sequence or Structural Similarity
more info
 
telomeric loop disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
regulator of telomere elongation helicase 1
Names
RTEL1
regulator of telomere length
NP_001269938.1
NP_001269939.1
NP_057518.1
NP_116575.3

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.

Genomic

  1. NG_033901.1 RefSeqGene

    Range
    5001..43444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001283009.1NP_001269938.1  regulator of telomere elongation helicase 1 isoform 3

    See identical proteins and their annotated locations for NP_001269938.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest protein (isoform 3).
    Source sequence(s)
    AF217795, AW005229, JX119186
    Consensus CDS
    CCDS63331.1
    UniProtKB/Swiss-Prot
    Q9NZ71
    UniProtKB/TrEMBL
    R4IXY3
    Related
    ENSP00000353332, OTTHUMP00000184892, ENST00000360203, OTTHUMT00000289781
    Conserved Domains (4) summary
    pfam06733
    Location:111272
    DEAD_2; DEAD_2
    pfam13307
    Location:545731
    Helicase_C_2; Helicase C-terminal domain
    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. NM_001283010.1NP_001269939.1  regulator of telomere elongation helicase 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences include translation initiation at a downstream AUG and a translational frameshift. The resulting protein (isoform 4) has a shorter N-terminus and distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AF217795, AK304798, AW005229
    Consensus CDS
    CCDS74751.1
    UniProtKB/Swiss-Prot
    Q9NZ71
    Related
    ENSP00000322287, ENST00000318100
    Conserved Domains (4) summary
    pfam13307
    Location:322508
    Helicase_C_2; Helicase C-terminal domain
    cd13932
    Location:654753
    HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
    TIGR00604
    Location:2520
    rad3; DNA repair helicase (rad3)
    cl21455
    Location:149
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_016434.3NP_057518.1  regulator of telomere elongation helicase 1 isoform 1

    See identical proteins and their annotated locations for NP_057518.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region that results in a translational frameshift, compared to variant 3. The resulting protein (isoform 1) has a distinct C-terminus and is shorter than isoform 3.
    Source sequence(s)
    AF217795, AW005229
    Consensus CDS
    CCDS13531.1
    UniProtKB/Swiss-Prot
    Q9NZ71
    Related
    ENSP00000359035, OTTHUMP00000031577, ENST00000370018, OTTHUMT00000080173
    Conserved Domains (4) summary
    pfam06733
    Location:111272
    DEAD_2; DEAD_2
    pfam13307
    Location:545731
    Helicase_C_2; Helicase C-terminal domain
    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. NM_032957.4NP_116575.3  regulator of telomere elongation helicase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 3, one of which results in a translational frameshift. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 3.
    Source sequence(s)
    AF217795, AK302508, AW005229
    Consensus CDS
    CCDS13530.3
    UniProtKB/Swiss-Prot
    Q9NZ71
    Related
    ENSP00000424307, OTTHUMP00000221856, ENST00000508582, OTTHUMT00000368468
    Conserved Domains (4) summary
    pfam06733
    Location:111296
    DEAD_2; DEAD_2
    pfam13307
    Location:569755
    Helicase_C_2; Helicase C-terminal domain
    cd13932
    Location:9011000
    HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)
    TIGR00604
    Location:10767
    rad3; DNA repair helicase (rad3)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    63657810..63696253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    62190825..62229469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)