maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
84916
21771
Ensembl
ENSG00000262788 ENSG00000141076
ENSMUSG00000041438
UniProt
Q969X6
Q8R2N2
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 Mb
Chr 8: 107.62 – 107.65 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/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]
^ abcGRCm38: 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.
^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.
UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC. This protein contains a WD40 repeat and is localized to the...
recessive abnormality of the UTP4 gene, which codes for cirhin, a nucleolar protein. NAIC is a ribosomopathy. An R565W mutation of UTP4 leads to partial impairment...
question[citation needed] NAIC is an autosomal recessive abnormality of the UTP4 gene, which codes for cirhin. Neonatal jaundice advances over time to biliary...