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UTP4

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(Redirected from CIRH1A (gene))
UTP4
Identifiers
AliasesUTP4, CIRHIN, NAIC, TEX292, CIRH1A, small subunit processome component, UTP4 small subunit processome component
External IDsOMIM: 607456; MGI: 1096573; HomoloGene: 40775; GeneCards: UTP4; OMA:UTP4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 8: 107.62 – 107.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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  1. ^ a b c ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041438Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: CIRH1A cirrhosis, autosomal recessive 1A (cirhin)".
  8. ^ 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.
  9. ^ 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

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