SAMSN1
Description
The SAMSN1 (SAM domain, SH3 domain and nuclear localization signals 1) is a protein-coding gene located on chromosome 21.
SAMSN1 is a protein encoded by the SAMSN1 gene in humans. It belongs to a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains.
SAMSN1 acts as a negative regulator of B-cell activation, suppressing cell proliferation in vitro. It promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton, influencing cell spreading and polarization. SAMSN1 also stimulates HDAC1 activity and regulates LYN activity by modulating its tyrosine phosphorylation.
SAMSN1 is also known as HACS1, NASH1, SASH2, SH3D6B, SLy2.
Associated Diseases
- Miyoshi myopathy
- common variable immunodeficiency
- isolated agammaglobulinemia
- severe combined immunodeficiency due to CARD11 deficiency
- classic Hodgkin lymphoma
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 18
- combined immunodeficiency with skin granulomas
