BIRC7
Description
The BIRC7 (baculoviral IAP repeat containing 7) is a protein-coding gene located on chromosome 20.
Baculoviral IAP repeat-containing protein 7 is a protein that in humans is encoded by the BIRC7 gene. The protein encoded by this gene is a member of the family of inhibitor of apoptosis proteins (IAP) and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Two transcript variants encoding different isoforms have been found for this gene. The two isoforms have different antiapoptotic properties, with isoform alpha protecting cells from apoptosis induced by staurosporine and isoform b protecting cells from apoptosis induced by etoposide. In melanoma, BIRC7 gene expression is regulated by the Microphthalmia-associated transcription factor.
BIRC7, also known as Livin, is an apoptotic regulator with both pro-apoptotic and anti-apoptotic roles. It plays a critical part in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is achieved through the inhibition of caspases CASP3, CASP7, and CASP9, as well as its E3 ubiquitin-protein ligase activity. While a weak caspase inhibitor, BIRC7 promotes cell survival by ubiquitinating DIABLO/SMAC, leading to its degradation. It also contributes to caspase inhibition by hindering DIABLO/SMAC from disrupting XIAP/BIRC4-caspase interactions. BIRC7 safeguards against apoptosis triggered by TNF or chemical agents like adriamycin, etoposide, and staurosporine. This protection involves the activation of MAPK8/JNK1 and potentially MAPK9/JNK2, a process dependent on TAB1 and MAP3K7/TAK1. In vitro studies show that BIRC7 inhibits CASP3 and the proteolytic activation of pro-CASP9.
BIRC7 is also known as KIAP, LIVIN, ML-IAP, MLIAP, RNF50.
Associated Diseases
- macrothrombocytopenia, isolated, 2, autosomal dominant
- thrombocytopenia 4
- cancer
- autosomal dominant macrothrombocytopenia
- adrenal cortex neoplasm
- platelet-type bleeding disorder 15
- platelet-type bleeding disorder 10
- thrombocytopenia 2
- thrombocytopenia 7