Human Gene PUS3 (uc001qcy.2) Description and Page Index
  Description: Homo sapiens pseudouridylate synthase 3 (PUS3), transcript variant 1, mRNA.
RefSeq Summary (NM_031307): The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012].
Transcript (Including UTRs)
   Position: hg19 chr11:125,763,380-125,773,116 Size: 9,737 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr11:125,763,680-125,766,179 Size: 2,500 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:125,763,380-125,773,116)mRNA (may differ from genome)Protein (481 aa)
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UniProtKB

-  Comments and Description Text from UniProtKB
  ID: PUS3_HUMAN
DESCRIPTION: RecName: Full=tRNA pseudouridine(38/39) synthase; EC=5.4.99.45; AltName: Full=tRNA pseudouridine synthase 3; AltName: Full=tRNA pseudouridylate synthase 3; AltName: Full=tRNA-uridine isomerase 3;
FUNCTION: Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs (By similarity).
CATALYTIC ACTIVITY: tRNA uridine(38/39) = tRNA pseudouridine(38/39).
SUBCELLULAR LOCATION: Nucleus (Potential).
SIMILARITY: Belongs to the tRNA pseudouridine synthase TruA family.

-  MalaCards Disease Associations
  MalaCards Gene Search: PUS3
Diseases sorted by gene-association score: mental retardation, autosomal recessive 55* (969)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.12 RPKM in Liver
Total median expression: 183.42 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.1098-0.328 Picture PostScript Text
3' UTR -64.40300-0.215 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020103 - PsdUridine_synth_cat_dom
IPR001406 - PsdUridine_synth_TruA
IPR020097 - PsdUridine_synth_TruA_a/b_dom
IPR020095 - PsdUridine_synth_TruA_C
IPR020094 - PsdUridine_synth_TruA_N

Pfam Domains:
PF01416 - tRNA pseudouridine synthase

SCOP Domains:
55120 - Pseudouridine synthase

ModBase Predicted Comparative 3D Structure on Q9BZE2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0009982 pseudouridine synthase activity
GO:0016853 isomerase activity

Biological Process:
GO:0001522 pseudouridine synthesis
GO:0006400 tRNA modification
GO:0008033 tRNA processing
GO:0009451 RNA modification
GO:0031119 tRNA pseudouridine synthesis
GO:1990481 mRNA pseudouridine synthesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC013427 - Homo sapiens pseudouridylate synthase 3, mRNA (cDNA clone IMAGE:3896889), partial cds.
BC004822 - Homo sapiens pseudouridylate synthase 3, mRNA (cDNA clone MGC:5252 IMAGE:3451112), complete cds.
AK055702 - Homo sapiens cDNA FLJ31140 fis, clone IMR322001218, highly similar to Mus musculus pseudouridine synthase 3 (Pus3) mRNA.
AF325689 - Homo sapiens FKSG32 (FKSG32) mRNA, complete cds.
JD099826 - Sequence 80850 from Patent EP1572962.
AK074218 - Homo sapiens cDNA FLJ23638 fis, clone CAS09913, highly similar to Pseudouridine synthase 3.
AK314251 - Homo sapiens cDNA, FLJ94997.
EU176455 - Synthetic construct Homo sapiens clone IMAGE:100006633; FLH264110.01X; RZPDo839E06257D pseudouridylate synthase 3 (PUS3) gene, encodes complete protein.
DQ896653 - Synthetic construct Homo sapiens clone IMAGE:100011113; FLH263595.01L; RZPDo839B06155D pseudouridylate synthase 3 (PUS3) gene, encodes complete protein.
DQ896654 - Synthetic construct Homo sapiens clone IMAGE:100011114; FLH196338.01L; RZPDo839B07155D pseudouridylate synthase 3 (PUS3) gene, encodes complete protein.
EU176796 - Synthetic construct Homo sapiens clone IMAGE:100011573; FLH263596.01L; RZPDo839F05256D pseudouridylate synthase 3 (PUS3) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BZE2 (Reactome details) participates in the following event(s):

R-HSA-8870289 PUS3 transforms uridine-39 to pseudouridine-39 in tRNA
R-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-72306 tRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAM0, FKSG32, NM_031307, NP_001258914, PUS3_HUMAN, Q96D17, Q96J23, Q96NB4, Q9BZE2
UCSC ID: uc001qcy.2
RefSeq Accession: NM_031307
Protein: Q9BZE2 (aka PUS3_HUMAN)
CCDS: CCDS8466.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_031307.3
exon count: 4CDS single in 3' UTR: no RNA size: 1862
ORF size: 1446CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3058.00frame shift in genome: no % Coverage: 99.03
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.