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Tbio
RTEL1
Regulator of telomere elongation helicase 1

Protein Summary
Description
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. 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 ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000318100
  • ENSP00000322287
  • ENSG00000258366
  • ENST00000360203
  • ENSP00000353332
  • ENST00000370018
  • ENSP00000359035
  • ENST00000482936
  • ENSP00000457868
  • ENST00000508582
  • ENSP00000424307

Symbol
  • C20orf41
  • KIAA1088
  • NHL
  • NHL
  • RTEL
  • DKCA4
  • DKCB5
  • PFBMFT3
  • C20orf41
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
1
protein domain
0.85
transcription factor binding site profile
0.83
phenotype
0.73
tissue sample
0.71


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 135.8   (req: < 5)
Gene RIFs: 45   (req: <= 3)
Antibodies: 140   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 135.8   (req: >= 5)
Gene RIFs: 45   (req: > 3)
Antibodies: 140   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 22
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (19)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
9
4
0
1.4
99.5
7
3
0
1.4
97.4
3
2
0
1.4
96.9
Eczema
3
3
0
1.1
88.5
2
2
0
1
86.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.4
99.5
0
1.4
97.4
0
1.4
96.9
Eczema
0
1.1
88.5
0
1
86.5
Pathways (10)
Cytosolic iron-sulfur cluster assembly (R-HSA-2564830)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cytosolic iron-sulfur cluster assembly
Reactome
DNA Double-Strand Break Repair
Reactome
DNA Repair
Reactome
HDR through Homologous Recombination (HRR)
Reactome
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
Name
Explore in Pharos
Explore in Source
Cytosolic iron-sulfur cluster assembly
DNA Double-Strand Break Repair
DNA Repair
HDR through Homologous Recombination (HRR)
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
Gene Ontology Terms (25)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-UniRule
Inferred from Electronic Annotation (IEA)
UniProtKB-UniRule
Inferred from Electronic Annotation (IEA)
UniProtKB-UniRule
Protein-Protein Interactions (159)
1 – 10 of 159
GATD1
Tdark
Family: Enzyme
Novelty: 0.40291197
p_int: 0.998269868
p_ni: 0.001730131
Data Source: BioPlex
ISLR
Tbio
Novelty: 0.02936208
p_int: 0.996904167
p_ni: 0.003095833
Data Source: BioPlex
LIPH
Tbio
Family: Enzyme
Novelty: 0.00961658
p_int: 0.992457174
p_ni: 0.007542826
Data Source: BioPlex
EFNB3
Tbio
Novelty: 0.0120367
p_int: 0.992058492
p_ni: 0.007941508
Data Source: BioPlex
SSSCA1
Tdark
Novelty: 0.53523038
p_int: 0.988881264
p_ni: 0.011118736
Data Source: BioPlex
UBXN11
Tbio
Novelty: 0.03165477
p_int: 0.959216799
p_ni: 0.040783196
p_wrong: 5e-9
Score: 0.192
Data Source: BioPlex,STRINGDB
PSME3
Tbio
Novelty: 0.01051254
p_int: 0.958634367
p_ni: 0.041365621
p_wrong: 1.1e-8
Data Source: BioPlex
TTC9C
Tdark
Novelty: 0.85949913
p_int: 0.937253834
p_ni: 0.062746156
p_wrong: 1e-8
Data Source: BioPlex
OSTM1
Tbio
Novelty: 0.03033192
p_int: 0.922614741
p_ni: 0.077383054
p_wrong: 0.000002204
Data Source: BioPlex
C10orf91
Tdark
p_int: 0.876035725
p_ni: 0.123964269
p_wrong: 6e-9
Data Source: BioPlex
Publication Statistics
PubMed Score  135.80

PubMed score by year
PubTator Score  197.26

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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