UTP4

Last updated
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
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 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]

Contents

Related Research Articles

SCN1A Protein-coding gene in the species Homo sapiens

Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.

<span class="mw-page-title-main">UBTF</span> Protein-coding gene in the species Homo sapiens

Upstream binding transcription factor (UBTF), or upstream binding factor (UBF), is a protein that in humans is encoded by the UBTF gene.

<span class="mw-page-title-main">Dyskerin</span> Protein

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the gene DKC1.

<span class="mw-page-title-main">NFATC3</span> Protein-coding gene in the species Homo sapiens

Nuclear factor of activated T-cells, cytoplasmic 3 is a protein that in humans is encoded by the NFATC3 gene.

<span class="mw-page-title-main">SNTB2</span> Protein-coding gene in the species Homo sapiens

Beta-2-syntrophin is a protein that in humans is encoded by the SNTB2 gene.

<span class="mw-page-title-main">Carboxylesterase 2</span> Enzyme hydrolysing long-chain fatty esters

Carboxylesterase 2 is an enzyme that in humans is encoded by the CES2 gene. It is a member of the alpha/beta fold hydrolase family.

<span class="mw-page-title-main">TUFM</span> Mitochondrial protein and coding gene in humans

Elongation factor Tu, mitochondrial is a protein that in humans is encoded by the TUFM gene. It is an EF-Tu homolog.

<span class="mw-page-title-main">DHX38</span> Protein-coding gene in the species Homo sapiens

Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 is an enzyme that in humans is encoded by the DHX38 gene.

<span class="mw-page-title-main">HAS3</span> Protein-coding gene in the species Homo sapiens

Hyaluronan synthase 3 is an enzyme that in humans is encoded by the HAS3 gene.

<span class="mw-page-title-main">SBDS</span> Protein-coding gene in the species Homo sapiens

Ribosome maturation protein SBDS is a protein that in humans is encoded by the SBDS gene. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants.

<span class="mw-page-title-main">NIP7</span> Protein-coding gene in humans

60S ribosome subunit biogenesis protein NIP7 homolog is a protein that in humans is encoded by the NIP7 gene.

<span class="mw-page-title-main">SMPD3</span> Protein-coding gene in the species Homo sapiens

Sphingomyelin phosphodiesterase 3 is an enzyme that in humans is encoded by the SMPD3 gene.

<span class="mw-page-title-main">MPHOSPH10</span> Protein-coding gene in the species Homo sapiens

U3 small nucleolar ribonucleoprotein protein MPP10 is a protein that in humans is encoded by the MPHOSPH10 gene.

<span class="mw-page-title-main">Sodium/hydrogen exchanger 5</span> Protein-coding gene in the species Homo sapiens

Sodium/hydrogen exchanger 5 is a protein that in humans is encoded by the SLC9A5 gene.

<span class="mw-page-title-main">NOL6</span> Protein-coding gene in the species Homo sapiens

Nucleolar protein 6 is a protein that in humans is encoded by the NOL6 gene.

<span class="mw-page-title-main">DYNC1LI2</span> Protein-coding gene in the species Homo sapiens

Cytoplasmic dynein 1 light intermediate chain 2 is a protein that in humans is encoded by the DYNC1LI2 gene.

<span class="mw-page-title-main">ZNF346</span> Protein-coding gene in the species Homo sapiens

Zinc finger protein 346 is a protein that in humans is encoded by the ZNF346 gene.

<span class="mw-page-title-main">Carbonic anhydrase 7</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 7 (CA7) is an enzyme that in humans is encoded by the CA7 gene.

<span class="mw-page-title-main">PDF (gene)</span> Protein-coding gene in the species Homo sapiens

Peptide deformylase, mitochondrial is an enzyme that in humans is encoded by the PDF gene.

North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an autosomal recessive abnormality of the UTP4 gene, which codes for cirhin, a nucleolar protein.

References

  1. 1 2 3 ENSG00000141076 GRCh38: Ensembl release 89: ENSG00000262788, ENSG00000141076 - Ensembl, May 2017
  2. 1 2 3 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


This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.