Description: Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA. RefSeq Summary (NM_144709): Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Transcript (Including UTRs) Position: hg19 chr2:61,167,548-61,244,328 Size: 76,781 Total Exon Count: 18 Strand: - Coding Region Position: hg19 chr2:61,169,530-61,239,025 Size: 69,496 Coding Exon Count: 17
ID:PUS10_HUMAN DESCRIPTION: RecName: Full=Putative tRNA pseudouridine synthase Pus10; EC=5.4.99.-; AltName: Full=Coiled-coil domain-containing protein 139; AltName: Full=tRNA pseudouridine 55 synthase; Short=Psi55 synthase; AltName: Full=tRNA pseudouridylate synthase; AltName: Full=tRNA-uridine isomerase; FUNCTION: Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death. CATALYTIC ACTIVITY: tRNA uridine = tRNA pseudouridine. PTM: Proteolytically cleaved during TRAIL-induced cell death. Cleaved, in vitro, either by caspase-3 or caspase-8. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Belongs to the pseudouridine synthase Pus10 family. SEQUENCE CAUTION: Sequence=CAI46123.1; Type=Miscellaneous discrepancy; Note=Partially unspliced pre-RNA;
Celiac Disease Patrick C A Dubois et al. Nature genetics 2010, Multiple common variants for celiac disease influencing immune gene expression., Nature genetics.
[PubMed 20190752]
Colitis, Ulcerative Dermot P B McGovern et al. Nature genetics 2010, Genome-wide association identifies multiple ulcerative colitis susceptibility loci., Nature genetics.
[PubMed 20228799]
Colitis, Ulcerative Carl A Anderson et al. Nature genetics 2011, Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47., Nature genetics.
[PubMed 21297633]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q3MIT2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.