Full name: X-linked inhibitor of apoptosis

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: 1110015C02Rik; Aipa; Api3; Birc4; IAP3; ILP-1; MIHA

Summary: The protein encoded by this gene is a member of the inhibitor of apoptosis (IAP) family of proteins. While first identified for its role in blocking apoptosis, this protein modulates many other signaling processes including nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) pathways and inflammatory responses. This protein blocks apoptosis by binding and inhibiting target caspases after they have been activated. Binding occurs to some, but not all, caspases. This protein has several conserved regions, including baculoviral IAP repeat (BIR) motifs and a RING finger E3 ligase domain. In humans, mutations in this gene are linked to immunodeficiency in X-linked lymphoproliferative syndrome type-2 (XLP-2). A pseudogene of this gene is found on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Expression: Ubiquitous expression in cerebellum adult (RPKM 7.1), bladder adult (RPKM 6.9) and 26 other tissues

Gene size: 50059bp

Exon count: 13