POT1
protection of telomeres 1 | DKFZp586D211, hPot1

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

Member of: DE-3 DE-3.30
Biological processes 50 terms
8-hydroxy-2'-deoxyguanosine DNA binding (GO:1905773)DEAD/H-box RNA helicase binding (GO:0017151)DNA binding (GO:0003677)G-rich single-stranded DNA binding (GO:1990955)G-rich strand telomeric DNA binding (GO:0098505)G-rich strand telomeric DNA binding (GO:0098505)chromosome, telomeric region (GO:0000781)chromosome, telomeric region (GO:0000781)chromosome, telomeric region (GO:0000781)establishment of protein localization to telomere (GO:0070200)negative regulation of telomere maintenance via telomerase (GO:0032211)negative regulation of telomere maintenance via telomerase (GO:0032211)negative regulation of telomere maintenance via telomerase (GO:0032211)nuclear telomere cap complex (GO:0000783)nuclear telomere cap complex (GO:0000783)nuclear telomere cap complex (GO:0000783)nucleoplasm (GO:0005654)nucleoplasm (GO:0005654)nucleus (GO:0005634)positive regulation of DNA strand elongation (GO:0060383)positive regulation of telomere maintenance (GO:0032206)positive regulation of telomere maintenance via telomerase (GO:0032212)positive regulation of telomere maintenance via telomerase (GO:0032212)positive regulation of telomeric D-loop disassembly (GO:1905840)protein binding (GO:0005515)regulation of double-strand break repair via nonhomologous end joining (GO:2001032)regulation of telomere maintenance via telomerase (GO:0032210)regulation of telomere maintenance via telomerase (GO:0032210)shelterin complex (GO:0070187)shelterin complex (GO:0070187)shelterin complex (GO:0070187)single-stranded telomeric DNA binding (GO:0043047)single-stranded telomeric DNA binding (GO:0043047)single-stranded telomeric DNA binding (GO:0043047)telomerase inhibitor activity (GO:0010521)telomerase inhibitor activity (GO:0010521)telomere assembly (GO:0032202)telomere capping (GO:0016233)telomere capping (GO:0016233)telomere capping (GO:0016233)telomere capping (GO:0016233)telomere capping (GO:0016233)telomere maintenance (GO:0000723)telomere maintenance via telomerase (GO:0007004)telomere maintenance via telomerase (GO:0007004)telomeric D-loop binding (GO:0061821)telomeric D-loop disassembly (GO:0061820)telomeric G-quadruplex DNA binding (GO:0061849)telomeric repeat DNA binding (GO:0042162)telomeric repeat DNA binding (GO:0042162)
Expression (TPM)
POT1 — as a Regulated Gene

TFs regulating POT1 0 TFs

Transcription factors with Perturb-seq knockdown data for POT1. 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 = POT1 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 POT1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of POT1, 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
chr7:124,763,883–124,767,039 163.7 kb Distal (>10kb) Multiome 668
chr7:124,929,353–124,930,390 145 bp At TSS Multiome 882

Genome Browser

Genomic view of the POT1 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.

chr7:124,753,883 – 124,940,390
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq