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. [provided by RefSeq, Jan 2016]

Description

UTP4 small subunit processome component

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli fibrillar center

Predicted location

Intracellular

Protein family

Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (69131291 - 69231130)

Ensembl ID

ENSG00000141076  (ver. 103.38)

Orthologs

Mouse Utp4: ENSMUSG00000041438

UniProt

Q969X6

neXtProt

NX_Q969X6

Human splice variants
Mouse splice variants

Protein structure