UTP4 small subunit processome component (UTP4)

UTP4 small subunit processome component (Cirhin) is a WD40-repeat-containing protein localized to the nucleolus and is a key constituent of the small subunit processome (SSU processome), which assembles at the 5'-end of the nascent pre-ribosomal RNA during eukaryotic ribosome biogenesis[1][5][4]. UTP4 contains two highly basic, orthogonally arranged β-propeller domains, facilitating specific interactions with pre-rRNA and other protein components during the early construction of the eukaryotic ribosome[1][2]. It is required for maturation of 18S rRNA, associated with the first precursor of the small ribosomal subunit, and is critical for cell growth and RNA synthesis[1][5]. Mutations in UTP4 result in North American Indian childhood cirrhosis, a severe pediatric liver disease characterized by progressive intrahepatic cholestasis, jaundice, and eventual cirrhosis, signifying its essential role in normal human cellular physiology[5][3][6]. No approved drugs or experimental therapeutics directly target UTP4; its molecular function is instead studied primarily in the context of genetic disease causation and basic cellular biology.

Other names

CirhinCIRH1ANAICU3 small nucleolar RNA-associated protein 4 homologcPERP-ETEX292KIAA1988FLJ14728UTP4 small subunit processome componentTestis expressed gene 292Cirrhosis, autosomal recessive 1A (cirhin)