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Aliases for RTEL1 Gene

Aliases for RTEL1 Gene

  • Regulator Of Telomere Elongation Helicase 1 2 3
  • C20orf41 3 4 6
  • NHL 3 4 6
  • KIAA1088 4 6
  • DKCA4 3 6
  • DKCB5 3 6
  • Chromosome 20 Open Reading Frame 41 2
  • Regulator Of Telomere Length 3
  • Novel Helicase-Like 4
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • RTEL 3

External Ids for RTEL1 Gene

Previous Symbols for RTEL1 Gene

  • C20orf41

Summaries for RTEL1 Gene

Entrez Gene Summary for RTEL1 Gene

  • 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]

GeneCards Summary for RTEL1 Gene

RTEL1 (Regulator Of Telomere Elongation Helicase 1) is a Protein Coding gene. Diseases associated with RTEL1 include dyskeratosis congenita, autosomal recessive 5 and dyskeratosis congenita. Among its related pathways are Metabolism and Cytosolic Iron-sulfur Cluster Assembly. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and ATP-dependent DNA helicase activity. An important paralog of this gene is BRIP1.

UniProtKB/Swiss-Prot for RTEL1 Gene

  • ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTEL1 Gene

Genomics for RTEL1 Gene

Genomic Location for RTEL1 Gene

Start:
63,657,810 bp from pter
End:
63,696,253 bp from pter
Size:
38,444 bases
Orientation:
Plus strand

Genomic View for RTEL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RTEL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTEL1 Gene

Regulatory Elements for RTEL1 Gene

Proteins for RTEL1 Gene

  • Protein details for RTEL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ71-RTEL1_HUMAN
    Recommended name:
    Regulator of telomere elongation helicase 1
    Protein Accession:
    Q9NZ71
    Secondary Accessions:
    • A2A397
    • A2A398
    • B4DRM5
    • B4DYM3
    • B4E3N6
    • E1P5J4
    • E1P5J5
    • Q5JTV3
    • Q5JTV4
    • Q9BW37
    • Q9H402
    • Q9H4X6
    • Q9NX25
    • Q9NZ73
    • Q9UPR4
    • Q9Y4R6

    Protein attributes for RTEL1 Gene

    Size:
    1219 amino acids
    Molecular mass:
    133683 Da
    Quaternary structure:
    • Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.
    Miscellaneous:
    • Amplified in gastric tumors

    Alternative splice isoforms for RTEL1 Gene

neXtProt entry for RTEL1 Gene

Proteomics data for RTEL1 Gene at MOPED

Post-translational modifications for RTEL1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys543 and Lys626

Domains for RTEL1 Gene

Suggested Antigen Peptide Sequences for RTEL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZ71

UniProtKB/Swiss-Prot:

RTEL1_HUMAN
Domain:
  • The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.:
    • Q9NZ71
  • Contains 1 helicase ATP-binding domain.:
    • Q9NZ71
Family:
  • Belongs to the helicase family. RAD3/XPD subfamily.:
    • Q9NZ71
genes like me logo Genes that share domains with RTEL1: view

No data available for Gene Families for RTEL1 Gene

Function for RTEL1 Gene

Molecular function for RTEL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function: ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

Enzyme Numbers (IUBMB) for RTEL1 Gene

Gene Ontology (GO) - Molecular Function for RTEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0004003 ATP-dependent DNA helicase activity IMP 18957201
GO:0005515 protein binding IPI 23959892
GO:0005524 ATP binding IMP 18957201
genes like me logo Genes that share ontologies with RTEL1: view
genes like me logo Genes that share phenotypes with RTEL1: view

Animal Models for RTEL1 Gene

MGI Knock Outs for RTEL1:

miRNA for RTEL1 Gene

miRTarBase miRNAs that target RTEL1

No data available for Transcription Factor Targeting and HOMER Transcription for RTEL1 Gene

Localization for RTEL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTEL1 Gene

Nucleus. Note=Colocalizes with PCNA within the replication foci in S-phase cells. {ECO:0000255 HAMAP-Rule:MF_03065}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RTEL1 Gene COMPARTMENTS Subcellular localization image for RTEL1 gene
Compartment Confidence
nucleus 4
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RTEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with RTEL1: view

Pathways for RTEL1 Gene

genes like me logo Genes that share pathways with RTEL1: view

Pathways by source for RTEL1 Gene

2 Reactome pathways for RTEL1 Gene

Gene Ontology (GO) - Biological Process for RTEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance ISS --
GO:0006139 nucleobase-containing compound metabolic process --
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair IEA --
GO:0010569 regulation of double-strand break repair via homologous recombination IMP 18957201
genes like me logo Genes that share ontologies with RTEL1: view

Transcripts for RTEL1 Gene

Unigene Clusters for RTEL1 Gene

Regulator of telomere elongation helicase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RTEL1 Gene

No ASD Table

Relevant External Links for RTEL1 Gene

GeneLoc Exon Structure for
RTEL1
ECgene alternative splicing isoforms for
RTEL1

Expression for RTEL1 Gene

mRNA expression in normal human tissues for RTEL1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RTEL1 Gene

SOURCE GeneReport for Unigene cluster for RTEL1 Gene Hs.745057

genes like me logo Genes that share expressions with RTEL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RTEL1 Gene

Orthologs for RTEL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RTEL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 86 (a)
OneToMany
RTEL1 35
  • 98.62 (n)
  • 98.62 (a)
cow
(Bos Taurus)
Mammalia RTEL1 35
  • 81.08 (n)
  • 78.17 (a)
RTEL1 36
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 74 (a)
OneToMany
RTEL1 35
  • 81.42 (n)
  • 77.99 (a)
mouse
(Mus musculus)
Mammalia Rtel1 35
  • 78.38 (n)
  • 76.46 (a)
Rtel1 16
Rtel1 36
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Rtel1 35
  • 78.26 (n)
  • 76.03 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 55 (a)
OneToMany
RTEL1 35
  • 61.9 (n)
  • 59.91 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rtel1 35
  • 58.28 (n)
  • 54.61 (a)
rtel1 36
  • 52 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta RTEL1_ANOGA 35
  • 53.23 (n)
  • 42.7 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4078 35
  • 51.09 (n)
  • 41.2 (a)
CG4078 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rtel-1 35
  • 44.91 (n)
  • 37.97 (a)
rtel-1 36
  • 28 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 36
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79950 35
  • 47.14 (n)
  • 39.03 (a)
rice
(Oryza sativa)
Liliopsida Os.33016 35
Os01g0592900 35
  • 50.31 (n)
  • 43.93 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToMany
Species with no ortholog for RTEL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RTEL1 Gene

ENSEMBL:
Gene Tree for RTEL1 (if available)
TreeFam:
Gene Tree for RTEL1 (if available)

Paralogs for RTEL1 Gene

Paralogs for RTEL1 Gene

Selected SIMAP similar genes for RTEL1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for RTEL1 Gene

genes like me logo Genes that share paralogs with RTEL1: view

Variants for RTEL1 Gene

Sequence variations from dbSNP and Humsavar for RTEL1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
VAR_054970 -
VAR_054971 -
VAR_069714 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
VAR_069715 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
VAR_069716 Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)

Structural Variations from Database of Genomic Variants (DGV) for RTEL1 Gene

Variant ID Type Subtype PubMed ID
dgv4618n71 CNV Loss 21882294
nsv913190 CNV Loss 21882294
dgv1344e1 CNV Complex 17122850
nsv913213 CNV Loss 21882294
nsv470563 CNV Loss 18288195
dgv4641n71 CNV Loss 21882294
dgv4644n71 CNV Loss 21882294
dgv1345e1 CNV Complex 17122850
nsv428381 CNV Gain+Loss 18775914
nsv913241 CNV Loss 21882294
nsv9828 CNV Gain+Loss 18304495
esv2722952 CNV Deletion 23290073
esv29168 CNV Loss 19812545
nsv820558 CNV Deletion 20802225
esv988534 CNV Gain 20482838
esv2722953 CNV Deletion 23290073
esv2722954 CNV Deletion 23290073
esv2722955 CNV Deletion 23290073
esv2722956 CNV Deletion 23290073
nsv189 CNV Insertion 15895083
nsv3449 CNV Insertion 18451855
nsv179257 CNV Loss 16902084
esv2006909 CNV Deletion 18987734
esv5108 CNV Deletion 18987735
esv2722957 CNV Deletion 23290073
dgv4645n71 CNV Loss 21882294
dgv4646n71 CNV Loss 21882294
dgv4647n71 CNV Loss 21882294
nsv913249 CNV Loss 21882294
nsv913250 CNV Loss 21882294
esv2722958 CNV Deletion 23290073
esv992110 CNV Insertion 20482838
nsv913253 CNV Loss 21882294

Relevant External Links for RTEL1 Gene

HapMap Linkage Disequilibrium report
RTEL1
Human Gene Mutation Database (HGMD)
RTEL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTEL1 Gene

Disorders for RTEL1 Gene

(1) OMIM Diseases for RTEL1 Gene (608833)

UniProtKB/Swiss-Prot

RTEL1_HUMAN
  • Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. {ECO:0000269 PubMed:23329068, ECO:0000269 PubMed:23453664, ECO:0000269 PubMed:23591994, ECO:0000269 PubMed:23959892, ECO:0000269 PubMed:24009516}. Note=The disease is caused by mutations affecting the gene represented in this entry. RTEL1 mutations have also been found in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and short telomeres, in the absence of the typical DKC diagnostic triad (PubMed:23329068). {ECO:0000269 PubMed:23329068}.
  • Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:23329068}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for RTEL1 Gene

Relevant External Links for RTEL1

Genetic Association Database (GAD)
RTEL1
Human Genome Epidemiology (HuGE) Navigator
RTEL1
genes like me logo Genes that share disorders with RTEL1: view

Publications for RTEL1 Gene

  1. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. (PMID: 10655513) Bai C. … Caskey C.T. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 23
  2. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson C.A. … Rioux J.D. (Nat. Genet. 2011) 3 48
  3. Chromosome 7p11.2 (EGFR) variation influences glioma risk. (PMID: 21531791) Sanson M. … Simon M. (Hum. Mol. Genet. 2011) 3 48
  4. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PMID: 22678361) Gari K. … Boulton S.J. (Science 2012) 3 4
  5. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. (PMID: 23591994) Le Guen T. … Revy P. (Hum. Mol. Genet. 2013) 3 4

Products for RTEL1 Gene

Sources for RTEL1 Gene

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