Full name: siah E3 ubiquitin protein ligase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BURHAS; SIAH1A

Summary: This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in placenta (RPKM 15.8), testis (RPKM 9.6) and 25 other tissues

Gene size: 26716bp

Exon count: 5