SSH1 Gene

The SSH1 gene (SSH1 stands for: Slingshot Protein Phosphatase 1) is a protein coding gene located on chromosome 12q24.11. The protein encoded by this gene belongs to the family of slingshot homolog phosphatases (SSH) that regulate actin filament dynamics.

The SSH proteins dephosphorylate and activate the actin-binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their degradation. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which can also be dephosphorylated and inactivated by SSH proteins. Thus, the SSH family appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Diseases associated with SSH1 (see also SART3) include DSAP, Disseminated Superficial Actinic Porokeratosis.

1. Huang M et al. (2018) RNA-splicing factor SART3 regulates translesion DNA synthesis. Nucleic Acids Res 46:4560-4574.
2. Liu P et al (2008) Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. Hum Genet 123:507-513.
3. Timani KA et al (2018) Tip110/SART3 regulates IL-8 expression and predicts the clinical outcomes in melanoma. Mol Cancer 17:124.
4. Zhang Z et al (2004) Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. Hum Mutat 24: 438.