Version 5.4
Homo sapiens Gene: PUS1
Summary
InnateDB Gene IDBG-65093.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PUS1
Gene Name pseudouridylate synthase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000177192
Encoded Proteins
IDBP-65095
pseudouridylate synthase 1
IDBP-65097
pseudouridylate synthase 1
IDBP-385139
pseudouridylate synthase 1
IDBP-390077
pseudouridylate synthase 1
IDBP-586594
pseudouridylate synthase 1
IDBP-593837
pseudouridylate synthase 1
IDBP-596092
pseudouridylate synthase 1
IDBP-593065
pseudouridylate synthase 1
IDBP-590075
pseudouridylate synthase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:131929200-131945896
Strand Forward strand
Band q24.33
Transcripts
ENST00000376649 ENSP00000365837
ENST00000322060 ENSP00000324726
ENST00000443358 ENSP00000392451
ENST00000456665 ENSP00000409705
ENST00000542167 ENSP00000438948
ENST00000538037 ENSP00000440326
ENST00000544662
ENST00000544213 ENSP00000445819
ENST00000535067 ENSP00000443969
ENST00000537484 ENSP00000440179
ENST00000543754
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0004730 pseudouridylate synthase activity
GO:0005515 protein binding
GO:0009982 pseudouridine synthase activity
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0001522 pseudouridine synthesis
GO:0008033 tRNA processing
GO:0009451 RNA modification
GO:0031119 tRNA pseudouridine synthesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005730 nucleolus
GO:0005739 mitochondrion
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000029507
View Gene Order
ENSBTAG00000012990
Not yet available
Cross-References
SwissProt
TrEMBL F5H168
UniProt Splice Variant
Entrez Gene 80324
UniGene Hs.592004
RefSeq NM_001002019 NM_001002020 NM_025215
HUGO HGNC:15508
OMIM 608109
CCDS CCDS31928 CCDS9275
HPRD 10481
IMGT
EMBL AC131009
GenPept
RNA Seq Atlas 80324

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca