Property Summary

NCBI Gene PubMed Count 51
Grant Count 26
R01 Count 9
Funding $5,132,765.23
PubMed Score 224.52
PubTator Score 155.90

Knowledge Summary

Patent

No data available

Expression

 GO Component (2)

Gene RIF (35)

PMID Text
26803811 Deletion in the RTEL1 gene is associated with metastatic glioblastoma.
26581417 Telomere length is associated with Esophageal squamous cell carcinoma risk in a U-shaped pattern and demonstrates that TL-SNPs may not be important in carcinogenesis in Chinese population.
26156397 results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population
26025130 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
26022962 Heterozygous RTEL1 mutations are responsible for familial pulmonary fibrosis (FPF) and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF.
26014354 RTEL1 single nucleotide polymorphisms are associated with decreased susceptibility to pediatric brain astrocytoma.
25848748 PARN and RTEL1 mutation carriers had shortened leukocyte telomere lengths.
25628358 This work unravels completely unanticipated roles for RTEL1 in RNP trafficking and strongly suggests that defects in RNP biogenesis pathways contribute to the pathology of Hoyeraal-Hreidarsson syndrome
25620558 The shelterin protein TRF2 recruits RTEL1 to telomeres in S phase, which is required to prevent catastrophic t-loop processing by structure-specific nucleases.
25607374 Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis.
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AA Sequence

MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISAR      1 - 70
KIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGS     71 - 140
REQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEEKSLEQELASPILDIEDLVKSGSKHRVCPYY    141 - 210
LSRNLKQQADIIFMPYNYLLDAKSRRAHNIDLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVID    211 - 280
QVLEEQTKAAQQGEPHPEFSADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFE    281 - 350
LFAEAQITFQTKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQS    351 - 420
YKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSGTLAPVSSFAL    421 - 490
EMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSSLGKALGNIARVVPYGLLIFF    491 - 560
PSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSETISAYYARVAAPGSTGATFLAVCRGKASEG    561 - 630
LDFSDTNGRGVIVTGLPYPPRMDPRVVLKMQFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIR    631 - 700
HRQDYGAVFLCDHRFAFADARAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRG    701 - 770
EDAVSEAKSPGPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEH    771 - 840
SEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFMVAVKQELSQA    841 - 910
NFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHHKQQFEEVCIQLTGRGCGYRP    911 - 980
EHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQEHLNQGRPHLSPRPPPTGDPGSQPQWGSGVP    981 - 1050
RAGKQGQHAVSAYLADARRALGSAGCSQLLAALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFV   1051 - 1120
RPHHKQRFSQTCTDLTGRPYPGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPA   1121 - 1190
GTVGAGGEDAGPSQSSGPPHGPAASEWGL                                            1191 - 1219
//

Text Mined References (52)

PMID Year Title
26803811 2016 Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing.
26581417 2015 U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population.
26156397 2015 Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.
26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
26022962 2015 Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
26014354 2015 CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility.
25848748 2015 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
25628358 2015 Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.
More...