Q9WU56 · PUS1_MOUSE
- ProteinPseudouridylate synthase 1 homolog
- GenePus1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids423 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:10094309, PubMed:15327771, PubMed:27197761).
Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:10094309).
Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (By similarity).
Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (By similarity).
Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (By similarity).
Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:15327771).
Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:10094309).
Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (By similarity).
Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (By similarity).
Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (By similarity).
Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:15327771).
Isoform 3
Does not form pseudouridine when expressed in vitro.
Isoform 4
Does not form pseudouridine when expressed in vitro.
Catalytic activity
- a uridine in tRNA = a pseudouridine in tRNA
- a uridine in mRNA = a pseudouridine in mRNA
Features
Showing features for active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 142 | Nucleophile | ||||
Sequence: D |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrion | |
Cellular Component | nucleolus | |
Cellular Component | nucleus | |
Cellular Component | transcription regulator complex | |
Molecular Function | chromatin binding | |
Molecular Function | nuclear receptor coactivator activity | |
Molecular Function | pseudouridine synthase activity | |
Molecular Function | steroid receptor RNA activator RNA binding | |
Molecular Function | tRNA binding | |
Molecular Function | tRNA pseudouridine synthase activity | |
Molecular Function | tRNA pseudouridine(38-40) synthase activity | |
Biological Process | mRNA processing | |
Biological Process | mRNA pseudouridine synthesis | |
Biological Process | positive regulation of transcription by RNA polymerase II | |
Biological Process | RNA splicing | |
Biological Process | tRNA pseudouridine synthesis |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended namePseudouridylate synthase 1 homolog
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Strains
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ9WU56
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Phenotypes & Variants
Disruption phenotype
Impaired muscle morphology and physiology leading to impaired exercise capacity (PubMed:27197761).
Mice were born at the expected Mendelian frequency (PubMed:27197761).
At 14 weeks, mice display reduced exercise capacity, probably caused by alterations in muscle metabolism related to mitochondrial content and oxidative capacity (PubMed:27197761).
Cells show reduced pseudouridylation of cytoplasmic and mitochondrial tRNAs (PubMed:27197761).
Mice were born at the expected Mendelian frequency (PubMed:27197761).
At 14 weeks, mice display reduced exercise capacity, probably caused by alterations in muscle metabolism related to mitochondrial content and oxidative capacity (PubMed:27197761).
Cells show reduced pseudouridylation of cytoplasmic and mitochondrial tRNAs (PubMed:27197761).
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 12 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for chain, transit peptide, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000057518 | ?-423 | Pseudouridylate synthase 1 homolog | |||
Sequence: MGFPRLWAALLRNWGRWTARPGPRVPGLPPMAGNKVPPALASHQPDRKGRGGWVWEETEHPAKRVKGGEDEEPPRKLPKRKIVLLMAYSGKGYHGMQRNLGSSQFRTIEDDLVSALVQAGCIPENHGTDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILDKINSHLPSHIRILGLKRVTGGFNSKNKCDARTYCYMLPTFAFAHKDRDVQDESYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPREPSARRYILEMYCEEPFVREGLEFAVIKVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGEEKVDVPKAPGLGLVLERVHFEKYNQRFGGDGLHEPLDWTQEEGKVTAFKEQYIYPTIVSTERDERSMAQWLNTLPIHNFSGTALGAADTGAKVPSSLEGSEGDGDTD | ||||||
Transit peptide | 1-? | Mitochondrion | ||||
Modified residue | 411 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 416 | Phosphoserine | ||||
Sequence: S | ||||||
Modified residue | 422 | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Gene expression databases
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 32-75 | Disordered | ||||
Sequence: AGNKVPPALASHQPDRKGRGGWVWEETEHPAKRVKGGEDEEPPR | ||||||
Compositional bias | 49-75 | Basic and acidic residues | ||||
Sequence: GRGGWVWEETEHPAKRVKGGEDEEPPR | ||||||
Region | 403-423 | Disordered | ||||
Sequence: ADTGAKVPSSLEGSEGDGDTD |
Sequence similarities
Belongs to the tRNA pseudouridine synthase TruA family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 4 isoforms produced by Alternative splicing.
Q9WU56-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length423
- Mass (Da)47,502
- Last updated2006-09-05 v2
- ChecksumC71FDBF60F29295A
Q9WU56-2
- Name2
- Differences from canonical
- 1-30: Missing
Q9WU56-3
- Name3
Q9WU56-4
- Name4
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_020114 | 1-30 | in isoform 2, isoform 3 and isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 48 | in Ref. 4; BAC40817 | ||||
Sequence: K → E | ||||||
Compositional bias | 49-75 | Basic and acidic residues | ||||
Sequence: GRGGWVWEETEHPAKRVKGGEDEEPPR | ||||||
Sequence conflict | 52 | in Ref. 4; BAC40817 | ||||
Sequence: G → D | ||||||
Alternative sequence | VSP_021791 | 98-143 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_021792 | 143 | in isoform 3 | |||
Sequence: K → KPLRTSACFCLYTGFLFHW | ||||||
Sequence conflict | 406 | in Ref. 5; AAH21446 | ||||
Sequence: G → V |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF116237 EMBL· GenBank· DDBJ | AAD21041.1 EMBL· GenBank· DDBJ | mRNA | ||
AF269250 EMBL· GenBank· DDBJ | AAG35307.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF269250 EMBL· GenBank· DDBJ | AAG35308.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AB041563 EMBL· GenBank· DDBJ | BAA95047.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK089258 EMBL· GenBank· DDBJ | BAC40817.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK138570 EMBL· GenBank· DDBJ | BAE23701.1 EMBL· GenBank· DDBJ | mRNA | ||
BC021446 EMBL· GenBank· DDBJ | AAH21446.2 EMBL· GenBank· DDBJ | mRNA | ||
BC034359 EMBL· GenBank· DDBJ | AAH34359.2 EMBL· GenBank· DDBJ | mRNA |