RTEL1 (regulator of telomere elongation helicase 1)

2003-10-01  

Identity

HGNC
RTEL1
LOCATION
20q13.33
LOCUSID
51750
ALIAS
C20orf41,DKCA4,DKCB5,NHL,PFBMFT3,RTEL
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
381531962024Harmonin homology domain-mediated interaction of RTEL1 helicase with RPA and DNA provides insights into its recruitment to DNA repair sites.1
385323122024High expression of RTEL1 predicates worse progression in gliomas and promotes tumorigenesis through JNK/ELK1 cascade.0
386535812024Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.1
381531962024Harmonin homology domain-mediated interaction of RTEL1 helicase with RPA and DNA provides insights into its recruitment to DNA repair sites.1
385323122024High expression of RTEL1 predicates worse progression in gliomas and promotes tumorigenesis through JNK/ELK1 cascade.0
386535812024Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.1
362533422023Regulator of telomere elongation helicase 1 gene and its association with malignancy.2
373287612023Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.4
379887932023RTEL1 is upregulated in colorectal cancer and promotes tumor progression.0
380014042023RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children.0
381321182023Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase.1
362533422023Regulator of telomere elongation helicase 1 gene and its association with malignancy.2
373287612023Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.4
379887932023RTEL1 is upregulated in colorectal cancer and promotes tumor progression.0
380014042023RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children.0

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