Suvarna Garge (Editor)

POT1

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Species
  
Human

Entrez
  
25913

Human
  
Mouse

Ensembl
  
ENSG00000128513

POT1

Aliases
  
POT1, CMM10, HGLM9, protection of telomeres 1

External IDs
  
MGI: 2141503 HomoloGene: 32263 GeneCards: POT1

Protection of telomeres protein 1 is a protein that in humans is encoded by the POT1 gene.

Contents

Function

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 known as shelterin, 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. Alternatively spliced transcript variants have been described.

Interactions

POT1 has been shown to interact with ACD and TINF2.

Pathology

  • Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression.
  • Mutations in this gene have also been associated to the acquisition of the malignant features of chronic lymphocytic leukemia.
  • POT1 loss-of-function variants predispose to familial melanoma and glioma.

    • References

    POT1 Wikipedia
    (Text) CC BY-SA