Overview

Location [1]
7q31.33
Protein [2]
Protection of telomeres protein 1
Synonyms [1]
GLM9, HPOT1, CMM10

Protection of telomeres 1 (POT1) is a gene that encodes a nuclear protein that functions in telomere maintenance. The protein regulates telomere length and protects chromosome ends from erroneous recombination, chromosomal instability, and abnormal chromosome segregation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as hematopoietic and lymphoid cancer, lung cancer, and parathyroid cancer.

POT1 is altered in 1.97% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, melanoma, and chronic lymphocytic leukemia/small lymphocytic lymphoma having the greatest prevalence of alterations [3].

POT1 GENIE Cases - Top Diseases

The most common alterations in POT1 are POT1 Mutation (1.75%), POT1 I22V (0.11%), POT1 F62C (0.06%), POT1 Loss (0.14%), and POT1 N614S (0.06%) [3].

POT1 GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.