SIVA1
Description
The SIVA1 (SIVA1 apoptosis inducing factor) is a protein-coding gene located on chromosome 14.
The SIVA1 gene encodes an apoptosis regulatory protein called Siva, which plays a crucial role in the apoptotic pathway triggered by the CD27 antigen. This antigen belongs to the tumor necrosis factor receptor (TNFR) superfamily. The cytoplasmic tail of the CD27 antigen interacts with the N-terminus of Siva. Two distinct proteins are produced from this gene through alternative splicing. Siva is a zinc-containing intracellular ligand of the CD4 receptor and promotes HIV-1 envelope-induced apoptosis in T-lymphoid cells. Notably, Siva is a direct transcriptional target of the tumor suppressors p53 and E2F1.
Induces apoptosis mediated by CD27. Inhibits the anti-apoptotic activity of BCL2L1 isoform Bcl-x(L). Inhibits the activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis.
SIVA1 is also known as CD27BP, SIVA, Siva-1, Siva-2.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- juvenile cataract-microcornea-renal glucosuria syndrome
- cataract
- hereditary hyperferritinemia with congenital cataracts
- cataract 13 with adult I phenotype
- cataract 38
- granular corneal dystrophy type I
- cataract 12 multiple types
