RTEL1
regulator of telomere elongation helicase 1 | DKFZP434C013, KIAA1088, NHL, RTEL, bK3184A7.3, C20orf41

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 of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

Biological processes 68 terms
4 iron, 4 sulfur cluster binding (GO:0051539)ATP binding (GO:0005524)ATP binding (GO:0005524)ATP binding (GO:0005524)ATP hydrolysis activity (GO:0016887)DNA binding (GO:0003677)DNA helicase activity (GO:0003678)DNA helicase activity (GO:0003678)DNA helicase activity (GO:0003678)DNA helicase activity (GO:0003678)DNA helicase activity (GO:0003678)DNA polymerase binding (GO:0070182)DNA polymerase binding (GO:0070182)DNA recombination (GO:0006310)DNA repair (GO:0006281)DNA replication (GO:0006260)DNA strand displacement (GO:0000732)DNA strand displacement (GO:0000732)DNA strand displacement (GO:0000732)chromosome, telomeric region (GO:0000781)chromosome, telomeric region (GO:0000781)helicase activity (GO:0004386)hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)metal ion binding (GO:0046872)mitotic telomere maintenance via semi-conservative replication (GO:1902990)mitotic telomere maintenance via semi-conservative replication (GO:1902990)negative regulation of DNA recombination (GO:0045910)negative regulation of DNA recombination (GO:0045910)negative regulation of DNA recombination (GO:0045910)negative regulation of t-circle formation (GO:1904430)negative regulation of t-circle formation (GO:1904430)negative regulation of t-circle formation (GO:1904430)negative regulation of t-circle formation (GO:1904430)negative regulation of t-circle formation (GO:1904430)negative regulation of telomere maintenance in response to DNA damage (GO:1904506)negative regulation of telomere maintenance in response to DNA damage (GO:1904506)nuclear membrane (GO:0031965)nuclear speck (GO:0016607)nucleic acid binding (GO:0003676)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)nucleus (GO:0005634)positive regulation of telomere capping (GO:1904355)positive regulation of telomere maintenance (GO:0032206)positive regulation of telomere maintenance (GO:0032206)positive regulation of telomere maintenance via telomere lengthening (GO:1904358)positive regulation of telomeric loop disassembly (GO:1904535)positive regulation of telomeric loop disassembly (GO:1904535)protein binding (GO:0005515)regulation of DNA recombination (GO:0000018)regulation of cellular response to stress (GO:0080135)regulation of double-strand break repair via homologous recombination (GO:0010569)regulation of double-strand break repair via homologous recombination (GO:0010569)regulation of double-strand break repair via homologous recombination (GO:0010569)replication fork processing (GO:0031297)replication fork processing (GO:0031297)telomere maintenance (GO:0000723)telomere maintenance (GO:0000723)telomere maintenance (GO:0000723)telomere maintenance in response to DNA damage (GO:0043247)telomere maintenance in response to DNA damage (GO:0043247)telomeric loop disassembly (GO:0090657)telomeric loop disassembly (GO:0090657)telomeric loop disassembly (GO:0090657)telomeric loop disassembly (GO:0090657)
Expression (TPM)
RTEL1 — as a Regulated Gene

TFs regulating RTEL1 0 TFs

Transcription factors with Perturb-seq knockdown data for RTEL1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = RTEL1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to RTEL1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of RTEL1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr20:63,409,631–63,410,124 248.4 kb Distal (>10kb) Multiome 60
chr20:63,471,533–63,472,788 185.7 kb Distal (>10kb) Multiome 219
chr20:63,488,166–63,488,632 169.9 kb Distal (>10kb) Multiome 127
chr20:63,498,850–63,499,391 159.0 kb Distal (>10kb) Multiome 232
chr20:63,519,657–63,521,677 137.7 kb Distal (>10kb) Multiome 712
chr20:63,537,759–63,538,455 120.2 kb Distal (>10kb) Multiome 823
chr20:63,552,551–63,554,733 104.7 kb Distal (>10kb) Multiome 544
chr20:63,573,969–63,574,596 84.0 kb Distal (>10kb) Multiome 551
chr20:63,626,480–63,627,647 31.3 kb Distal (>10kb) Multiome 982
chr20:63,641,266–63,642,913 16.3 kb Distal (>10kb) Multiome 691
chr20:63,652,233–63,654,166 4.7 kb Proximal (<10kb) Multiome 1011
chr20:63,657,813–63,658,939 144 bp At TSS Multiome 1055
chr20:63,696,254–63,697,070 38.2 kb Distal (>10kb) Multiome 458
chr20:63,707,489–63,708,488 49.6 kb Distal (>10kb) Multiome 1008
chr20:63,737,573–63,741,470 81.3 kb Distal (>10kb) Multiome 1098
chr20:63,775,216–63,775,997 117.2 kb Distal (>10kb) Multiome 257
chr20:63,830,341–63,832,721 173.0 kb Distal (>10kb) Multiome 628
chr20:63,846,273–63,846,790 188.2 kb Distal (>10kb) Multiome 487
chr20:63,864,234–63,865,991 206.8 kb Distal (>10kb) Multiome 1158
chr20:63,894,341–63,895,764 236.7 kb Distal (>10kb) Multiome 791
chr20:63,938,191–63,939,815 280.4 kb Distal (>10kb) Multiome 287
chr20:63,939,918–63,942,008 283.3 kb Distal (>10kb) Multiome 496
chr20:63,955,375–63,956,875 298.0 kb Distal (>10kb) Multiome 1107
chr20:63,956,976–63,958,127 299.3 kb Distal (>10kb) Multiome 709

Genome Browser

Genomic view of the RTEL1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr20:63,399,631 – 63,968,127
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
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