UTP4

{{Short description|Protein-coding gene in humans}}

{{Infobox_gene}}

UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC.{{cite journal | vauthors = Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA | display-authors = 6 | title = Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype | journal = American Journal of Human Genetics | volume = 67 | issue = 1 | pages = 222–8 | date = July 2000 | pmid = 10820129 | pmc = 1287080 | doi = 10.1086/302993 }}{{cite journal | vauthors = Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A | display-authors = 6 | title = A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis | journal = American Journal of Human Genetics | volume = 71 | issue = 6 | pages = 1443–9 | date = December 2002 | pmid = 12417987 | pmc = 378590 | doi = 10.1086/344580 }}{{cite web | title = Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84916| access-date = }} This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43.{{cite journal | vauthors = Sato M, Araki N, Kumeta M, Takeyasu K, Taguchi Y, Asai T, Furukawa K, Horigome T | display-authors = 6 | title = Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex | journal = Biochemistry and Cell Biology | volume = 91 | issue = 6 | pages = 466–75 | date = December 2013 | pmid = 24219289 | doi = 10.1139/bcb-2013-0062 }} 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.{{cite journal | vauthors = Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A | display-authors = 6 | title = A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis | journal = American Journal of Human Genetics | volume = 71 | issue = 6 | pages = 1443–9 | date = December 2002 | pmid = 12417987 | pmc = 378590 | doi = 10.1086/344580 | url = http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)60865-9 | url-status = dead | archive-url = https://archive.today/20130223080336/http://www.ajhg.org/AJHG/fulltext/S0002-9297(07)60865-9 | archive-date = 2013-02-23 }}