SAV1
Description
The SAV1 (salvador family WW domain containing protein 1) is a protein-coding gene located on chromosome 14.
SAV1 (salvador homolog 1) is a human gene that encodes a protein containing two WW domains and a coiled-coil region. This protein is ubiquitously expressed in adult tissues and is highly similar to its mouse counterpart. WW domains are found in all eukaryotes and are involved in regulating various cellular functions, including protein degradation, transcription, and RNA splicing.
SAV1 is a key regulator of the Hippo signaling pathway, which controls organ size and suppresses tumor growth by regulating cell proliferation and apoptosis. It acts by forming a complex with STK3/MST2 and STK4/MST1, which then phosphorylates and activates LATS1/2 in complex with MOB1. LATS1/2, in turn, phosphorylates and inactivates the YAP1 oncoprotein and WWTR1/TAZ, preventing their nuclear translocation and inhibiting the expression of genes involved in cell proliferation, death, and migration. SAV1 is essential for the activation of STK3/MST2 and STK4/MST1, and promotes cell cycle exit and differentiation in epithelial tissues. It also plays a role in centrosome disjunction by regulating NEK2 localization to centrosomes and its phosphorylation of CROCC and CEP250. In collaboration with STK3/MST2, SAV1 activates the transcriptional activity of ESR1 by modulating its phosphorylation.
SAV1 is also known as SAV, WW45, WWP4.
Associated Diseases
- hereditary spastic paraplegia 3A
- hereditary sensory and autonomic neuropathy type 1
- hereditary breast ovarian cancer syndrome
- nonpapillary renal cell carcinoma
- cancer
