Aliases for UTP4 Gene
- UTP4, Small Subunit Processome Component 2 3 5
- Cirrhosis, Autosomal Recessive 1A (Cirhin) 2 3
- 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
- UTP4 Small Subunit (SSU) Processome Component 3
- UTP4 Small Subunit Processome Component 4
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 North American Indian Childhood Cirrhosis and Intrahepatic Cholestasis. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.
UniProtKB/Swiss-Prot for UTP4 Gene
Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A, A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766). 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 (PubMed:19732766).