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

Gene ID: 51750, updated on 28-Jun-2020

Summary

Official Symbol
RTEL1provided by HGNC
Official Full Name
regulator of telomere elongation helicase 1provided by HGNC
Primary source
HGNC:HGNC:15888
See related
Ensembl:ENSG00000258366 MIM:608833
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]
Expression
Ubiquitous expression in testis (RPKM 6.4), appendix (RPKM 4.8) and 25 other tissues See more
Orthologs

Genomic context

See RTEL1 in Genome Data Viewer
Location:
20q13.33
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 12780 Neighboring gene stathmin 3 Neighboring gene uncharacterized LOC105372726 Neighboring gene RTEL1-TNFRSF6B readthrough (NMD candidate) Neighboring gene TNF receptor superfamily member 6b Neighboring gene ADP ribosylation factor related protein 1 Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene Lck interacting transmembrane adaptor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA helicase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
DNA polymerase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 DNA recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of DNA recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric loop disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomeric loop disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
regulator of telomere elongation helicase 1
Names
regulator of telomere length
NP_001269938.1
NP_001269939.1
NP_057518.1
NP_116575.3

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.

Genomic

  1. NG_033901.1 RefSeqGene

    Range
    5503..43436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001283009.2NP_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
    ENSP00000353332.5, ENST00000360203.10
    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:1560
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  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
    ENSP00000322287.5, ENST00000318100.9
    Conserved Domains (4) summary
    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)
    pfam13307
    Location:322508
    Helicase_C_2; Helicase C-terminal domain
    cl21455
    Location:149
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_016434.4NP_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, AL353715
    Consensus CDS
    CCDS13531.1
    UniProtKB/Swiss-Prot
    Q9NZ71
    Related
    ENSP00000359035.3, ENST00000370018.7
    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:1560
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. NM_032957.5NP_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, AL353715
    Consensus CDS
    CCDS13530.3
    UniProtKB/Swiss-Prot
    Q9NZ71
    Related
    ENSP00000424307.2, ENST00000508582.6
    Conserved Domains (5) summary
    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)
    pfam06733
    Location:111296
    DEAD_2; DEAD_2
    pfam13307
    Location:569755
    Helicase_C_2; Helicase C-terminal domain
    cl21455
    Location:1560
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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