CIRH1A

UTP4
Identifiers
Aliases	UTP4, CIRHIN, NAIC, TEX292, CIRH1A, small subunit processome component
External IDs	MGI: 1096573 HomoloGene: 40775 GeneCards: UTP4
Gene location (Human)
Chr.	Chromosome 16 (human)[1]
End	69,231,130 bp[1]
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)[2]
End	106,923,088 bp[2]
Gene ontology
Molecular function	• protein binding; • RNA binding;
Cellular component	• fibrillar center; • nucleolus; • cell nucleus; • t-UTP complex; • chromosome; • nucleoplasm;
Biological process	• regulation of transcription, DNA-templated; • maturation of SSU-rRNA; • transcription, DNA-templated; • rRNA processing; • ribosome biogenesis;
	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

Cirhin is a protein that in humans is encoded by the CIRH1A gene.^[5]^[6]^[7] 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.^[8]

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:".
↑ "Mouse PubMed Reference:".
↑ 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.
↑ 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.
↑ "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)".
↑ 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.

External links

Human CIRH1A genome location and CIRH1A gene details page in the UCSC Genome Browser.

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.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041438 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid10820129-5] 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.

[pmid12417987-6] 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.

[entrez-7] "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)".

[8] 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.

CIRH1A

References

External links

Further reading