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Gene

POT1

protection of telomeres 1

Summary

Cytogenetic location
7q31.33
Coordinates
Chromosome 7: 124,822,386–124,929,825 (GRCh38)
Exons
19 exons across 107.4 kb
Protein
634 amino acids
Inheritance
Autosomal dominant
Also known as
hPot1, DKFZp586D211
MANE Select transcript
ENST00000357628.8NM_015450.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Dyskeratosis Congenita

    • Telomere syndromes

      Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.

  • Familial Pulmonary Fibrosis

    • Telomere-related Pulmonary Fibrosis and/or Bone Marrow Failure

      Variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN can cause progressive pulmonary fibrosis in adulthood, sometimes together with bone marrow failure or liver disease.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing can prompt earlier lung monitoring and treatment, screening for blood and liver involvement, care with immunosuppressive drugs around transplant, and careful selection of related donors.

  • Melanoma

    • Susceptibility to familial cutaneous melanomaAutosomal dominant

      Inherited melanoma susceptibility caused by variants in genes such as CDKN2A, CDK4, MITF and POT1.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Regular full skin examinations, sun protection and, for CDKN2A carriers, consideration of pancreatic surveillance.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How POT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where POT1 sits. POT1 and 2 genes near it on chromosome 7, from 124,376,106 to 125,376,105.Chromosome 77q31.33p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3124.4 Mb124.6 Mb124.8 Mb125 Mb125.2 MbSSU72L6: 124,476,317–124,477,664, forward strandSSU72L6GPR37: 124,743,885–124,766,099, reverse strandGPR37POT1: 124,822,386–124,929,825, reverse strandPOT1Diagram of POT1: 19 exons on the reverse strand of chromosome 7Exon 19: 1 known disease-causing siteExon 17: 9 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 14 known disease-causing sitesExon 14: 15 known disease-causing sitesExon 13: 16 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 10: 15 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 8: 26 known disease-causing sitesExon 7: 22 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 19: 124,822,386–124,824,074, 1,689 basesExon 18: 124,825,252–124,825,357, 106 basesExon 17: 124,827,214–124,827,305, 92 basesExon 16: 124,829,254–124,829,342, 89 basesExon 15: 124,835,279–124,835,414, 136 basesExon 14: 124,840,973–124,841,178, 206 basesExon 13: 124,842,807–124,842,963, 157 basesExon 12: 124,846,942–124,846,998, 57 basesExon 11: 124,851,872–124,851,951, 80 basesExon 10: 124,852,972–124,853,138, 167 basesExon 9: 124,858,957–124,859,112, 156 basesExon 8: 124,863,350–124,863,640, 291 basesExon 7: 124,870,911–124,871,041, 131 basesExon 6: 124,892,266–124,892,380, 115 basesExon 5: 124,897,165–124,897,212, 48 basesExon 4: 124,898,261–124,898,374, 114 basesExon 3: 124,915,574–124,915,646, 73 basesExon 2: 124,928,815–124,928,999, 185 basesExon 1: 124,929,794–124,929,825, 32 bases191510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.9 kb of the gene's 107.4 kb; 1,905 of those bases code for the protein.

How a genome test reads POT1

207

positions in POT1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 107.4 kb of POT1, introns included, not only the 3.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). POT1 gene: protection of telomeres 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pot1

Vancouver

Dante Labs. POT1 gene: protection of telomeres 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pot1

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