RTEL1 (regulator of telomere elongation helicase 1)

2003-10-01  

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
C20orf41,DKCA4,DKCB5,NHL,PFBMFT3,RTEL
FUSION GENES

Other Information

Locus ID:

NCBI: 51750
MIM: 608833
HGNC: 15888
Ensembl: ENSG00000258366

Variants:

dbSNP: 51750
ClinVar: 51750
TCGA: ENSG00000258366
COSMIC: RTEL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000258366ENST00000318100Q9NZ71
ENSG00000258366ENST00000356810X6R5I7
ENSG00000258366ENST00000360203Q9NZ71
ENSG00000258366ENST00000370018Q9NZ71
ENSG00000258366ENST00000425905X6RBZ7
ENSG00000258366ENST00000469728A0A2R8Y7H5
ENSG00000258366ENST00000482936Q9NZ71
ENSG00000258366ENST00000496816A0A0C4DGC7
ENSG00000258366ENST00000508582Q9NZ71
ENSG00000258366ENST00000646389A0A2R8YD56

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Cytosolic iron-sulfur cluster assemblyREACTOMER-HSA-2564830
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)REACTOMER-HSA-5693554

References

Pubmed IDYearTitleCitations
195783672009Genome-wide association study identifies five susceptibility loci for glioma.340
195783662009Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.223
195783662009Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.223
189572012008RTEL1 maintains genomic stability by suppressing homologous recombination.165
258487482015Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.135
233290682013Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.95
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
234536642013Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.71
256073742015Rare variants in RTEL1 are associated with familial interstitial pneumonia.64
235919942013Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.60

Citation

Dessen P

RTEL1 (regulator of telomere elongation helicase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/882/rtel1