Human Gene PUS10 (uc002sap.1)
  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 chr2:61,236,983-61,240,389 Size: 3,407 Total Exon Count: 3 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:61,236,983-61,240,389)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneNetworkH-INVHGNCLynx
PubMedTreefam

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PUS10
CDC HuGE Published Literature: PUS10
Positive Disease Associations: Celiac Disease , Colitis, Ulcerative , Crohn Disease , Intestinal Diseases , ulcerative colitis
Related Studies:
  1. 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]
  2. Colitis, Ulcerative
    Dermot P B McGovern et al. Nature genetics 2010, Genome-wide association identifies multiple ulcerative colitis susceptibility loci., Nature genetics. [PubMed 20228799]
  3. 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]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.79 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 61.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AL832208 - Homo sapiens mRNA; cDNA DKFZp686K122 (from clone DKFZp686K122).
AK056874 - Homo sapiens cDNA FLJ32312 fis, clone PROST2003210.
AK291729 - Homo sapiens cDNA FLJ77651 complete cds.
BC101680 - Homo sapiens pseudouridylate synthase 10, mRNA (cDNA clone MGC:126729 IMAGE:8069186), complete cds.
BC143480 - Homo sapiens cDNA clone IMAGE:9051988.
BC101706 - Homo sapiens pseudouridylate synthase 10, mRNA (cDNA clone MGC:126755 IMAGE:8069212), complete cds.
KJ900281 - Synthetic construct Homo sapiens clone ccsbBroadEn_09675 PUS10-like gene, encodes complete protein.
BC065197 - Homo sapiens cDNA clone IMAGE:5167882, partial cds.
JD105859 - Sequence 86883 from Patent EP1572962.
JD117067 - Sequence 98091 from Patent EP1572962.
JD144149 - Sequence 125173 from Patent EP1572962.
JD058317 - Sequence 39341 from Patent EP1572962.
JD196479 - Sequence 177503 from Patent EP1572962.
JD195069 - Sequence 176093 from Patent EP1572962.
JD195068 - Sequence 176092 from Patent EP1572962.
JD417705 - Sequence 398729 from Patent EP1572962.
JD376772 - Sequence 357796 from Patent EP1572962.
JD446458 - Sequence 427482 from Patent EP1572962.
JD533754 - Sequence 514778 from Patent EP1572962.
JD421973 - Sequence 402997 from Patent EP1572962.
JD446457 - Sequence 427481 from Patent EP1572962.
JD333031 - Sequence 314055 from Patent EP1572962.
BC060323 - Homo sapiens cDNA clone IMAGE:3898374, partial cds.
JD345545 - Sequence 326569 from Patent EP1572962.
JD070027 - Sequence 51051 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BC060323
UCSC ID: uc002sap.1
RefSeq Accession: NM_144709

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: BC060323.1
exon count: 3CDS single in 3' UTR: no RNA size: 525
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 512.00frame shift in genome: no % Coverage: 59.62
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.