UTP4

UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC.^[5][6][7] This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43.^[8] 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.^[9]

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)[1] Band 16q22.1 Start 69,131,291 bp[1] End 69,231,130 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 D3 Start 107,620,268 bp[2] End 107,649,720 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 84916 21771 Ensembl ENSG00000262788 ENSG00000141076 ENSMUSG00000041438 UniProt Q969X6 Q8R2N2 RefSeq (mRNA) NM_032830 NM_001318391 NM_011574 NM_001358982 RefSeq (protein) NP_001305320 NP_116219 NP_035704 NP_001345911 Location (UCSC) Chr 16: 69.13 – 69.23 Mb Chr 8: 107.62 – 107.65 Mb PubMed search [3] [4]
Wikidata
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