GENE REFERENCE / HGNC:17004

WWP1

WW domain containing E3 ubiquitin protein ligase 1

protein-coding gene8q21.3Gene information

What does this gene do?

The WWP1 gene provides instructions for making a protein that is found is many tissues. This protein has activity known as E3 ubiquitin ligase. Proteins with this activity are involved in the process that targets other proteins to be broken down (degraded) within cells. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells.

The WWP1 protein can attach (bind) to various other proteins and mark them for degradation or alteration. In particular, the WWP1 protein binds to an enzyme called PTEN. The PTEN enzyme acts as a tumor suppressor, which means that it helps regulate cell division by keeping cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. To function, the PTEN enzyme has to bind to another PTEN enzyme (dimerize). Binding of the WWP1 protein to the PTEN enzyme impairs the PTEN enzyme's ability to dimerize, impairing the enzyme's activity.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-08. Source review: 2021-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 131
Submissions for variants in or overlapping this gene: 172
Submissions explicitly reporting this gene: 123
Alleles reported pathogenic / likely pathogenic: Not reported
VariationIDs with uncertain significance: 71
VariationIDs with conflicting classifications: 0

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about WWP1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in WWP1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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