UTP4

UTP4
Identifiers
Aliases	UTP4, CIRHIN, NAIC, TEX292, CIRH1A, small subunit processome component, UTP4 small subunit processome component
External IDs	OMIM: 607456; MGI: 1096573; HomoloGene: 40775; GeneCards: UTP4; OMA:UTP4 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	69,231,130 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	107,649,720 bp
RNA expression pattern
	Top expressed in
	gonad; ; gastrocnemius muscle; ; human kidney; ; right testis; ; left testis; ; skeletal muscle tissue; ; muscle of thigh; ; stromal cell of endometrium; ; testicle; ; islet of Langerhans;
	Top expressed in
	primary oocyte; ; epiblast; ; primitive streak; ; Gonadal ridge; ; morula; ; morula; ; embryo; ; fetal liver hematopoietic progenitor cell; ; tail of embryo; ; maxillary prominence;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; RNA binding;
Cellular component	fibrillar center; nucleolus; nucleus; t-UTP complex; chromosome; nucleoplasm; 90S preribosome; small-subunit processome;
Biological process	regulation of transcription, DNA-templated; maturation of SSU-rRNA; transcription, DNA-templated; rRNA processing; ribosome biogenesis; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);
	Sources:Amigo / QuickGO
Orthologs
	84916
	21771
	ENSG00000262788; ENSG00000141076
	ENSMUSG00000041438
	Q969X6
	Q8R2N2
	NM_032830; NM_001318391
	NM_011574; NM_001358982
	NP_001305320; NP_116219
	NP_035704; NP_001345911
	Wikidata
View/Edit Human	View/Edit Mouse

UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to UTP4 have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.