WWC1 (WW and C2 Domain Containing 1)
Key regulator of the Hippo signaling pathway and synaptic plasticity
Gene Information Card
| Symbol | WWC1 |
|---|---|
| Full Name | WW and C2 domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q34 |
| NCBI Gene ID | 23286 ncbi.nlm.nih.gov/gene/23286 |
| Ensembl ID | ENSG00000113648 |
| UniProt ID | Q8IX03 |
| OMIM ID | 610533 |
| HGNC ID | 29141 |
| Aliases | KIBRA, MEMRY, PPP1R168 |
Description
WWC1 (WW and C2 domain containing 1), also known as KIBRA, encodes a scaffold protein involved in the Hippo signaling pathway, which regulates organ size, cell proliferation, and apoptosis. It is highly expressed in the brain and kidney, and plays a critical role in synaptic plasticity, memory formation, and cell polarity. Mutations and altered expression of WWC1 have been implicated in cancer and cognitive disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of WWC1 expression promotes YAP/TAZ nuclear translocation and cell proliferation | PMID: 21746897 |
| Colorectal cancer | WWC1 downregulation correlates with poor prognosis and activation of Hippo pathway effectors | PMID: 25944712 |
| Alzheimer's disease | WWC1 variants associated with memory performance and risk of late-onset Alzheimer's | PMID: 21909107 |
| Renal cell carcinoma | WWC1 deletion or silencing leads to increased cell migration and invasion | PMID: 23918603 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Kidney | 22.3 | High |
| Testis | 15.1 | Medium |
| Liver | 8.7 | Low |
| Heart | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | Embryonic kidney cells |
| SH-SY5Y | 45.6 | Neuroblastoma cells |
| MCF7 | 18.4 | Breast cancer cells |
| HepG2 | 12.3 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.170C>T (p.Pro57Leu) | Missense | 0.01% | Unknown functional impact |
| c.1045G>A (p.Gly349Arg) | Missense | 0.02% | May affect protein stability |
| c.1960_1961del (p.Leu654fs) | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, leading to loss of Hippo pathway regulation.
Gain of Function (GOF)
Not well documented; some missense variants may alter binding affinity but no clear gain-of-function reported.
Dominant Negative (DN)
Not established for WWC1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • hippo signaling (GO:0035329) |
| • synapse (GO:0045202) | • canonical Wnt signaling pathway (GO:0060070) |
Pathways
• Hippo signaling pathway (KEGG: hsa04390)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
The WWC1 protein (KIBRA) contains two WW domains and a C2 domain. It acts as a scaffold that interacts with LATS1/2 kinases to promote YAP/TAZ phosphorylation and cytoplasmic retention, thereby inhibiting cell proliferation. In neurons, it localizes to synapses and modulates AMPA receptor trafficking, influencing long-term potentiation and memory.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WWC1 Knockout HEK293 Cell Line | EDJ-KQ1364 | Human | 23286 | Details Get a Quote |
| WWC1 Knockout A-549 Cell Line | EDJ-KQ20857 | Human | 23286 | Details Get a Quote |
| WWC1 Knockout HCT 116 Cell Line | EDJ-KQ20858 | Human | 23286 | Details Get a Quote |
| WWC1 Knockout HeLa Cell Line | EDJ-KQ20859 | Human | 23286 | Details Get a Quote |
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