CIRH1A

Cirrhosis, autosomal recessive 1A (cirhin)
Identifiers
Symbols	CIRH1A ; CIRHIN; NAIC; TEX292; UTP4
External IDs	OMIM: 607456 MGI: 1096573 HomoloGene: 40775 GeneCards: CIRH1A Gene
Gene ontology Molecular function • protein binding • poly(A) RNA binding Cellular component • nucleolus • t-UTP complex Biological process • transcription, DNA-templated • regulation of transcription, DNA-templated • maturation of SSU-rRNA Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84916	21771
Ensembl	ENSG00000141076	ENSMUSG00000041438
UniProt	Q969X6	Q8R2N2
RefSeq (mRNA)	NM_032830	NM_011574
RefSeq (protein)	NP_116219	NP_035704
Location (UCSC)	Chr 16: 69.13 – 69.23 Mb	Chr 8: 106.89 – 106.92 Mb
PubMed search

Cirhin is a protein that in humans is encoded by the CIRH1A gene.^[1][2][3] It has been associated with North American Indian childhood cirrhosis (not to be confused with Indian Childhood Cirrhosis which has greatly decreased over the past 100 years and was thought to be secondary to the use of various herbal remedies), a form of cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.^[4]

References

1. Betard 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 (Aug 2000). "Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype". Am J Hum Genet 67 (1): 222–8. doi:10.1086/302993. PMC 1287080. PMID 10820129.
2. Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (Nov 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". Am J Hum Genet 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987.
3. "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)".
4. Chagnon P, Michaud J, Mitchell G; et al. (2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis". Am. J. Hum. Genet. 71 (6): 1443–9. doi:10.1086/344580. PMC 378590. PMID 12417987.

Further reading

• López-Fernández LA, del Mazo J (1996). "Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library.". Mamm. Genome 7 (9): 698–700. doi:10.1007/s003359900210. PMID 8703127.
• Nagase T, Kikuno R, Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.". DNA Res. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319.
• Scherl A, Couté Y, Déon C; et al. (2003). "Functional proteomic analysis of human nucleolus.". Mol. Biol. Cell 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMC 133617. PMID 12429849.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Andersen JS, Lam YW, Leung AK; et al. (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
• Yu B, Mitchell GA, Richter A (2006). "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.". Exp. Cell Res. 311 (2): 218–28. doi:10.1016/j.yexcr.2005.08.012. PMID 16225863.