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WWP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WWP1 gene

The WWP1 gene provides instructions for making a protein that targets other proteins for degradation, playing a key role in regulating cell growth.

Normal Function

The WWP1 gene provides instructions for making a protein that functions as an E3 ubiquitin ligase. Proteins with this activity are involved in the process that targets other proteins to be broken down (degraded) within cells, which helps maintain normal cellular function. The WWP1 protein binds to an enzyme called PTEN. The PTEN enzyme acts as a tumor suppressor, regulating cell division to prevent uncontrolled growth. Binding of the WWP1 protein to the PTEN enzyme impairs the PTEN enzyme's ability to dimerize (bind to another PTEN enzyme), thereby impairing its activity.

Health Conditions Related to Genetic Changes

Cowden syndrome

Variants in the WWP1 gene have been identified in people with Cowden syndrome or Cowden-like syndrome. These conditions are characterized by multiple tumor-like growths called hamartomas and an increased risk of certain cancers, including breast, thyroid, colorectal, and endometrial cancer. These variants are "gain-of-function" mutations that enhance the activity of the WWP1 protein, causing it to bind to the PTEN enzyme more often than normal. This excessive binding impairs PTEN's tumor suppressor activity, allowing cells to proliferate unchecked.

Cancers

Somatic mutations in the WWP1 gene are associated with several types of cancers, including prostate, breast, and liver cancers. Unlike those in Cowden syndrome, these mutations arise during a person's lifetime and are not inherited. These "gain-of-function" mutations enhance WWP1 protein activity, leading to excessive binding to the PTEN enzyme, which impairs its tumor suppressor function and allows for cancer development.

Other Names for This Gene

  • TGIF-interacting ubiquitin ligase 1
  • TIUL1
  • WW domain-containing E3 ubiquitin protein ligase 1

Frequently Asked Questions

gain‑of‑function mutation makes the WWP1 protein bind more tightly to the tumor‑suppressor enzyme PTEN. This binding blocks PTEN’s ability to dimerize and perform its normal function of down‑regulating cell division. With PTEN activity suppressed, cells can proliferate unchecked, leading to the development of hamartomas and an elevated risk of breast, thyroid, colorectal, and endometrial cancers.
Research is ongoing to develop small‑molecule inhibitors that block the E3 ubiquitin ligase activity of WWP1. Early‑phase clinical trials are evaluating such inhibitors in cancers with WWP1 overactivity, but no approved drug specifically targets WWP1 as of now. Patients should discuss experimental options with their oncologist.
Yes, the variants that cause Cowden syndrome are inherited in an autosomal dominant pattern. A genetic counselor can recommend sequencing of the WWP1 gene for at-risk relatives. Testing is usually done with a blood or saliva sample and analyzed by next‑generation sequencing panels that include WWP1.
Somatic WWP1 mutations are most frequently reported in prostate, breast, and liver cancers. They are identified through tumor sequencing—either whole‑exome or targeted panels—performed on biopsy or surgical specimens. Detection of a gain‑of‑function mutation can inform prognosis and potential targeted therapy.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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