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Human protein-coding gene
1 is a protein that in humans is encoded by the RTEL1 gene. Read-through transcription of the RTEL1 gene into the neighboring downstream TNFRSF6B gene
RTEL1
Medical condition
telomere shortening. It has been associated with mutations in DKC1, TERT, RTEL1, TINF2, ACD, and PARN. Neuroimaging – cerebellar hypoplasia/atrophy, small
Hoyeraal–Hreidarsson_syndrome
Diseases of the space or tissue between the alveoli of the lungs
component (TERC) Mutations in the regulator of telomere elongation helicase 1 (RTEL1) Mutations in poly(A)-specific ribonuclease (PARN) ILD is not a single disease
Interstitial_lung_disease
British scientist
and cancer. Among Boulton's achievements is the discovery that the gene RTEL1 serves as an anti-recombinase that affects genome stability and cancer and
Simon_Boulton
by Uringa et al. the RTEL1 helicase is proposed to regulate recombination during meiosis in the worm Caenorhabditis elegans. RTEL1 is a key protein in
Synthesis-dependent strand annealing
Synthesis-dependent_strand_annealing
Phenomenon in genetics
significantly increased and crossover interference appears to be absent. RTEL1 likely acts by promoting synthesis-dependent strand annealing which results
Crossover_interference
Protein
Enable protein kinase activity Regulator of Telomere elongation helicase 1 RTEL1 Enables ATP binding and DNA helicase activity Epidermal growth factor receptor
Cystin-1
Class of enzymes that unpack genetic material
FBXO30, HELB, HELLS, HELQ, HELZ, HFM1, HLTF, IFIH1, NAV2, PIF1, RECQL, RTEL1, SHPRH, SMARCA4, SMARCAL1, WRN, WRNIP1 RNA helicase database Wu Y (2012)
Helicase
Non-coding RNA in humans
RF, Xiao Y, Decker PA, et al. (August 2009). "Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility". Nature Genetics
CDKN2BAS
Q9BSG5 14151 RTCA HGNC:17981; O00442 14152 RTCB HGNC:26935; Q9Y3I0 14153 RTEL1 HGNC:15888; Q9NZ71 14154 RTF1 HGNC:28996; Q92541 14155 RTF2 HGNC:15890;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein
TERF2. The TRFH domain is responsible for other binding events, including RTEL1, and proteins that contain a TBD site. The Myb domain (InterPro: IPR017930)
Telomeric repeat-binding factor 2
Telomeric_repeat-binding_factor_2
American researcher
G, et al., Lieberman PM, Tzfati, Y. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. PNAS 2013
Paul_Lieberman
Dutch medical researcher
Telomere Length. In follow-up work, it was shown that mutations in the human RTEL1 gene result in telomere loss and bone marrow failure. In 2012, his laboratory
Peter_M._Lansdorp
RNA family
RP, Garcia CK (May 2015). "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening". Nature Genetics
Y_RNA
Protein-coding gene in the species Homo sapiens
RP, Garcia CK (May 2015). "Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening". Nature Genetics
Poly(A)-specific_ribonuclease
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RTEL1
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