SAV1
Salvador Family WW Domain Containing Protein 1
Gene Information Card
| Symbol | SAV1 |
|---|---|
| Full Name | Salvador family WW domain containing protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q13.3 |
| NCBI Gene ID | 60485 ncbi.nlm.nih.gov/gene/60485 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9H4B6 |
| OMIM ID | 607203 |
| HGNC ID | 24279 |
| Aliases | SAV, WW45, WWP4 |
Description
SAV1 encodes a scaffold protein that is a core component of the Hippo signaling pathway. It interacts with STK3/MST2 and STK4/MST1 kinases to facilitate phosphorylation of LATS1/2, which in turn phosphorylates and inactivates YAP1 and WWTR1/TAZ transcriptional coactivators. This pathway regulates organ size, cell proliferation, and apoptosis, and SAV1 functions as a tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Loss of SAV1 disrupts Hippo signaling, leading to YAP/TAZ nuclear translocation and increased cell proliferation. | NCBI Gene, OMIM |
| Hepatocellular carcinoma | Reduced SAV1 expression correlates with poor prognosis and tumor progression. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 6.8 | Medium |
| Kidney | 5.2 | Medium |
| Lung | 4.1 | Low |
| Brain | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.5 | Embryonic kidney cells |
| HepG2 | 6.2 | Hepatocellular carcinoma cells |
| A549 | 4.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <1% | Loss of function; truncated protein |
| c.200_201del (p.Glu67fs) | Frameshift | <1% | Loss of function; premature stop |
| c.350A>G (p.Asn117Ser) | Missense | <1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing Hippo signaling and promoting oncogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • Hippo signaling |
| • apoptotic process | • cell proliferation |
| • WW domain binding |
Pathways
• Hippo signaling pathway
• Organ size regulation
Protein Summary
SAV1 is a 383-amino acid scaffold protein containing two WW domains. It binds to MST1/2 kinases via its SARAH domain and facilitates their activation, leading to downstream phosphorylation of LATS1/2. This inhibits YAP/TAZ transcriptional activity, suppressing cell growth and promoting apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAV1 Knockout HEK293 Cell Line | EDJ-KQ1368 | Human | 60485 | Details Get a Quote |
| SAV1 Knockout A-549 Cell Line | EDJ-KQ20862 | Human | 60485 | Details Get a Quote |
| SAV1 Knockout HCT 116 Cell Line | EDJ-KQ20863 | Human | 60485 | Details Get a Quote |
| SAV1 Knockout HeLa Cell Line | EDJ-KQ20864 | Human | 60485 | Details Get a Quote |
