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BAP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BAP1 Gene

The BAP1 gene provides instructions for making a protein that acts as a tumor suppressor, helping regulate cell growth, division, and DNA repair by removing ubiquitin molecules from other proteins.

Overview

The BAP1 gene, also known as BRCA1 associated deubiquitinase 1, is located on chromosome 3. It provides instructions for making a protein called ubiquitin carboxyl-terminal hydrolase BAP1 (shortened to BAP1). This protein functions as a deubiquitinase, which means it removes a molecule called ubiquitin from certain proteins.

The presence of ubiquitin molecules on a protein can affect the activity of the protein and its interactions with other proteins. The ubiquitin "tag" also promotes the breakdown (degradation) of a protein. By removing ubiquitin, the BAP1 protein helps regulate the function of many proteins involved in diverse cellular processes.

Role in Cell Function

Studies suggest that the BAP1 protein is involved in several critical cellular processes, including:

  • Controlling cell growth and division (proliferation) and cell death.
  • Progression of cells through the step-by-step process they take to replicate themselves (the cell cycle).
  • Repairing damaged DNA.
  • Controlling the activity of genes.

Although the exact mechanism is unclear, the BAP1 protein acts as a tumor suppressor. Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way.

Health Conditions Related to Genetic Changes

BAP1 Tumor Predisposition Syndrome

Mutations in the BAP1 gene cause BAP1 tumor predisposition syndrome. People with this condition have an increased risk of developing many types of noncancerous (benign) and cancerous (malignant) tumors. These tumors particularly affect:

  • Skin: Atypical Spitz tumors, cutaneous melanoma, and basal cell carcinoma.
  • Eyes: Uveal melanoma.
  • Kidneys: Clear cell renal cell carcinoma.
  • Mesothelium: Malignant mesothelioma (a tissue that lines the chest, abdomen, and internal organs).

Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome.

Genetic Mechanism

Affected individuals inherit a mutation in one copy of the BAP1 gene. These mutations, which are present in essentially every cell of the body, are classified as germline mutations. Most germline BAP1 gene mutations lead to an abnormally short BAP1 protein that is likely broken down prematurely. Other germline mutations change single protein building blocks (amino acids) in the BAP1 protein and likely impair its function.

In most cases, a second, non-inherited (somatic) mutation occurs in the normal copy of the gene in cells that give rise to tumors. Together, the germline and somatic mutations lead to a loss of BAP1 protein function in tumor cells. Reduction or loss of this protein's function likely prevents the removal of ubiquitin molecules from certain proteins. Although it is unclear exactly how changes in BAP1 function lead to BAP1 tumor predisposition syndrome, researchers speculate that altered activity of proteins normally regulated by BAP1 deubiquitination may promote cell proliferation or survival, resulting in tumor formation.

Cholangiocarcinoma

MedlinePlus Genetics provides information about Cholangiocarcinoma.

Melanoma

MedlinePlus Genetics provides information about Melanoma.

Other Cancers

Somatic BAP1 gene mutations have been found in uveal melanoma, malignant mesothelioma, and clear cell renal cell carcinoma tumors in the absence of a germline BAP1 gene mutation. In these cases, the cancers occur in people with no family history of the cancer and are considered sporadic. Affected individuals do not develop additional tumor types associated with BAP1 tumor predisposition syndrome.

Other Names for This Gene

  • BRCA1 associated protein 1
  • BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
  • HUCEP-13
  • hucep-6
  • KIAA0272
  • KURIS
  • TPDS1
  • UBM2
  • UCHL2
  • UVM2

Frequently Asked Questions

BAP1 is inherited in an autosomal‑dominant pattern, so each child has a 50 % chance of inheriting the mutation. Your partner does not need testing unless there is a family history on their side. For your children, offer predictive genetic testing after they reach the age of consent (usually 18 years) or earlier if early surveillance is medically indicated. Prenatal testing (CVS or amniocentesis) or pre‑implantation genetic diagnosis (PGD) with IVF are also options if you wish to know the status before birth.
You should begin a comprehensive surveillance program that includes: full‑body skin exam by a dermatologist every 6‑12 months; annual ophthalmologic exam with dilated fundus photography for uveal melanoma; renal imaging (ultrasound or MRI) every 1‑2 years to detect clear‑cell RCC; low‑dose chest CT every 2‑3 years if you have a history of asbestos exposure or mesothelioma risk; and a baseline whole‑body MRI or PET‑CT with follow‑up every 3‑5 years to catch other internal tumors early. Your clinician may tailor intervals based on family history and any prior findings.
While genetics set a baseline risk, modifiable factors still matter. Avoid tobacco and limit alcohol, as both increase overall cancer risk. Maintain a healthy weight and engage in regular aerobic exercise, which may improve immune surveillance. Minimize exposure to known carcinogens (e.g., asbestos, UV radiation—use broad‑spectrum sunscreen and protective clothing). A diet rich in fruits, vegetables, and omega‑3 fatty acids supports DNA repair mechanisms. Discuss any supplement use with your oncologist, as some antioxidants can interfere with certain therapies.
BAP1‑associated uveal melanoma tends to be more aggressive, with a higher likelihood of metastasis, especially to the liver. Knowing your BAP1 status prompts closer systemic monitoring (liver MRI or ultrasound every 3‑6 months) and may influence the choice of adjuvant therapies such as checkpoint inhibitors or targeted trials. Discuss enrollment in clinical studies that focus on BAP1‑deficient tumors, as they may offer novel treatment options.
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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