UTP4

Protein-coding gene in humans
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
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for UTP4
Genomic location for UTP4
Band16q22.1Start69,131,291 bp[1]
End69,231,130 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for UTP4
Genomic location for UTP4
Band8|8 D3Start107,620,268 bp[2]
End107,649,720 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 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

  1. ^ a b c ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076 – Ensembl, May 2017
  2. ^ a b c 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.


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