基因名:
Rnf148
产品别名:
4933432M07Rik; Greul3; Rnf148; ring finger protein 148; ring finger protein 148; RING finger protein 148; goliath-related E3 ubiquitin-protein ligase 3; 环指蛋白148;
背景信息:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF148 is a 305 amino acid single-pass membrane protein that contains one PA (protease associated) domain and a single RING-type zinc finger. RNF148 is encoded by a gene that maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance.