| UTP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
References
- 1 2 3 ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041438 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, et al. (July 2000). "Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype". American Journal of Human Genetics. 67 (1): 222–8. doi:10.1086/302993. PMC 1287080. PMID 10820129.
- ↑ Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, et al. (December 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". American Journal of Human Genetics. 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987.
- ↑ "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)".
- ↑ Sato M, Araki N, Kumeta M, Takeyasu K, Taguchi Y, Asai T, et al. (December 2013). "Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex". Biochemistry and Cell Biology. 91 (6): 466–75. doi:10.1139/bcb-2013-0062. PMID 24219289.
- ↑ Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, et al. (December 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". American Journal of Human Genetics. 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987. Archived from the original on 2013-02-23.
Further reading
- López-Fernández LA, del Mazo J (September 1996). "Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library". Mammalian Genome. 7 (9): 698–700. doi:10.1007/s003359900210. PMID 8703127. S2CID 29829690.
- Nagase T, Kikuno R, Ohara O (December 2001). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Research. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319.
- Scherl A, Couté Y, Déon C, Callé A, Kindbeiter K, Sanchez JC, et al. (November 2002). "Functional proteomic analysis of human nucleolus". Molecular Biology of the Cell. 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMC 133617. PMID 12429849.
- Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
- Yu B, Mitchell GA, Richter A (December 2005). "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis". Experimental Cell Research. 311 (2): 218–28. doi:10.1016/j.yexcr.2005.08.012. PMID 16225863.
External links
- Human UTP4 genome location and UTP4 gene details page in the UCSC Genome Browser.
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