UTP4

UTP4
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; OMA:UTP4 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16q22.1 Start 69,131,291 bp [1] End 69,231,130 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 D3 Start 107,620,268 bp [2] End 107,649,720 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad gastrocnemius muscle human kidney right testis left testis skeletal muscle tissue muscle of thigh stromal cell of endometrium testicle islet of Langerhans Top expressed in primary oocyte epiblast primitive streak Gonadal ridge morula morula embryo fetal liver hematopoietic progenitor cell tail of embryo maxillary prominence More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding RNA binding Cellular component fibrillar center nucleolus nucleus t-UTP complex chromosome nucleoplasm 90S preribosome small-subunit processome Biological process regulation of transcription, DNA-templated maturation of SSU-rRNA transcription, DNA-templated rRNA processing ribosome biogenesis 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]

References

1. ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041438 – Ensembl, 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

• 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 .