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UTP4

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(Redirected from CIRH1A) 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)
Chromosome 16 (human)Genomic location for UTP4Genomic location for UTP4
Band16q22.1Start69,131,291 bp
End69,231,130 bp
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)
Chromosome 8 (mouse)Genomic location for UTP4Genomic location for UTP4
Band8|8 D3Start107,620,268 bp
End107,649,720 bp
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
Cellular component
Biological process
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
Wikidata
View/Edit HumanView/Edit Mouse

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 nucleolus where it colocates with UTP15 and WDR43. 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.

References

  1. ^ ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076Ensembl, May 2017
  2. ^ 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

External links


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