UTP4

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.

Full Name

UTP4, SMALL SUBUNIT PROCESSOME COMPONENT

Function

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).

Biological Process

Biological Process maturation of SSU-rRNA Source:UniProtKB1 Publication
Biological Process maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source:GO_Central1 Publication
Biological Process regulation of DNA-templated transcription Source:UniProtKB1 Publication

Cellular Location

Nucleus, nucleolus
Chromosome
Found predominantly at the fibrillar center.

PTM

May be phosphorylated during mitosis; may control the association of this protein with WRD43 and UTP15.1 Publi