WWTR1 (WW Domain Containing Transcription Regulator 1)
A key Hippo signaling effector (TAZ) involved in development, regeneration, and cancer
Gene Information Card
| Symbol | WWTR1 |
|---|---|
| Full Name | WW domain containing transcription regulator 1 |
| Gene Type | protein coding |
| Chromosomal Location | 3q25.1 |
| NCBI Gene ID | 25937 ncbi.nlm.nih.gov/gene/25937 |
| Ensembl ID | ENSG00000018408 |
| UniProt ID | Q9GZV5 |
| OMIM ID | 607392 |
| HGNC ID | 24042 |
| Aliases | TAZ, TAZ1, WWTR1, transcriptional co-activator with PDZ-binding motif |
Description
The WWTR1 gene encodes the protein TAZ (transcriptional co-activator with PDZ-binding motif), a key downstream effector of the Hippo signaling pathway. TAZ regulates gene expression by co-activating transcription factors such as TEAD1-4, and is involved in cell proliferation, differentiation, and organ size control. It is critical for development and tissue homeostasis, and its dysregulation is linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or activation of TAZ promotes cell proliferation, epithelial-mesenchymal transition (EMT), and metastasis via TEAD-mediated transcription. | COSMIC, ClinVar, numerous studies |
| Hippo signaling pathway dysfunction | Loss of upstream regulators (e.g., NF2, LATS1/2) leads to TAZ nuclear accumulation and aberrant gene activation. | OMIM, literature |
| Developmental disorders | Mutations in WWTR1 have been associated with congenital anomalies, though specific syndromes are rare. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | High | High |
| Kidney | High | High |
| Placenta | High | High |
| Liver | Medium | Medium |
| Breast | Medium | Medium |
| Brain | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | High | Overexpressed in many cancer lines |
| A549 (lung cancer) | High | Promotes EMT |
| HepG2 (liver cancer) | Medium | Hippo pathway active |
| HEK293 (embryonic kidney) | Medium | Common model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R289W | Missense | Rare | Potential loss of function |
| S89A | Missense | Rare | Alters phosphorylation, affects stability |
| Amplification | Copy number gain | Frequent in cancers | Increased expression |
| Frameshift | Indel | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations may impair TAZ-mediated transcription, affecting development and tissue homeostasis.
Gain of Function (GOF)
Gain-of-function (e.g., overexpression or constitutive activation) promotes oncogenic transformation and metastasis.
Dominant Negative (DN)
Dominant-negative mutations could interfere with wild-type TAZ function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • protein binding |
| • transcription regulatory region DNA binding | • nucleus |
| • cytoplasm | • Hippo signaling |
Pathways
• Hippo signaling pathway
• Organ size control
• Cell proliferation and apoptosis
• Epithelial to mesenchymal transition
Protein Summary
TAZ is a 400-amino acid protein with a WW domain and a PDZ-binding motif. It shuttles between the cytoplasm and nucleus; phosphorylation by LATS kinases promotes cytoplasmic retention and degradation. In the nucleus, TAZ binds TEAD transcription factors to regulate target genes involved in cell growth and survival. Its activity is tightly regulated by the Hippo pathway, and dysregulation contributes to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WWTR1 Knockout HEK293 Cell Line | EDJ-KQ1082 | Human | 25937 | Details Get a Quote |
| WWTR1 Knockout HCT 116 Cell Line | EDJ-KQ20225 | Human | 25937 | Details Get a Quote |
| WWTR1 Knockout HeLa Cell Line | EDJ-KQ20226 | Human | 25937 | Details Get a Quote |
| WWTR1 Knockout A-549 Cell Line | EDJ-KQ64343 | Human | 25937 | Details Get a Quote |
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