Version 5.4
Homo sapiens Protein: PUS1
Summary
InnateDB Protein IDBP-385139.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PUS1
Protein Name pseudouridylate synthase 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000392451
InnateDB Gene IDBG-65093 (PUS1)
Protein Structure
UniProt Annotation
Function Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity). {ECO:0000250}.
Subcellular Localization Isoform 1: Mitochondrion {ECO:0000269PubMed:17056637}.Isoform 2: Nucleus {ECO:0000269PubMed:17056637}.
Disease Associations Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. {ECO:0000269PubMed:15108122}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. High levels of expression found in brain and skeletal muscle. {ECO:0000269PubMed:15108122}.
Comments
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:0009982 pseudouridine synthase activity
GO:0044822 poly(A) RNA binding
Biological Process
GO:0001522 pseudouridine synthesis
GO:0009451 RNA modification
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR001406 Pseudouridine synthase I, TruA
IPR020097 Pseudouridine synthase I, TruA, alpha/beta domain
IPR020103 Pseudouridine synthase, catalytic domain
PFAM PF01416
PRINTS
PIRSF PIRSF001430
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y606
PhosphoSite PhosphoSite-Q9Y606
TrEMBL G8JLB3
UniProt Splice Variant
Entrez Gene 80324
UniGene Hs.592004
RefSeq NP_001002020
HUGO HGNC:15508
OMIM 608109
CCDS CCDS31928
HPRD 10481
IMGT
EMBL AC131009 AF116238 AF318369 AK074659 AK292242 BC002901 BC009505 BC019320 CH471054 HQ205066 HQ205067 HQ205068 HQ205069 HQ205070 HQ205071 HQ205072 HQ205073 HQ205074 HQ205075 HQ205076 HQ205077 HQ205078 HQ205079 HQ205080 HQ205081 HQ205082 HQ205083 HQ205084 HQ205085 HQ205086 HQ205087 HQ205088 HQ205089 HQ205090 HQ205091 HQ205092 HQ205093 HQ205094 HQ205095 HQ205096 HQ205097 HQ205098 HQ205099 HQ205100 HQ205101 HQ205102 HQ205103 HQ205104 HQ205105
GenPept AAD21042 AAH02901 AAH09505 AAH19320 AAL55876 ADP90495 ADP90497 ADP90499 ADP90501 ADP90503 ADP90505 ADP90507 ADP90509 ADP90511 ADP90513 ADP90515 ADP90517 ADP90519 ADP90521 ADP90523 ADP90525 ADP90527 ADP90529 ADP90531 ADP90533 ADP90535 ADP90537 ADP90539 ADP90541 ADP90543 ADP90545 ADP90547 ADP90549 ADP90551 ADP90553 ADP90555 ADP90557 ADP90559 ADP90561 ADP90563 ADP90565 ADP90567 ADP90569 ADP90571 ADP90573 BAF84931 BAG51983 EAW98530 EAW98533

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