Aliases for UTP4 Gene
- UTP4, Small Subunit Processome Component 2 3 5
- Cirrhosis, Autosomal Recessive 1A (Cirhin) 2 3
- UTP4 Small Subunit Processome Component 3 4
- CIRHIN 3 4
- CIRH1A 3 4
- UTP4, Small Subunit (SSU) Processome Component, Homolog (Yeast) 2
- UTP4, Small Subunit (SSU) Processome Component, Homolog 3
- U3 Small Nucleolar RNA-Associated Protein 4 Homolog 3
External Ids for UTP4 Gene
Previous HGNC Symbols for UTP4 Gene
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for UTP4 Gene
UTP4 (UTP4, Small Subunit Processome Component) is a Protein Coding gene. Diseases associated with UTP4 include Cirrhosis, North American Indian Childhood Type and Intrahepatic Cholestasis. Among its related pathways are rRNA processing and Gene Expression.
UniProtKB/Swiss-Prot for UTP4 Gene
May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5-GGGACTTTCC-3 found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV. Ribosome biogenesis factor involved in small subunit (SSU) pre-rRNA processing at sites A, A0, 1 and 2b.