Q9Y606 · PUS1_HUMAN
- ProteinPseudouridylate synthase 1 homolog
- GenePUS1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids427 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331).
Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:31477916, PubMed:35051350).
Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350).
Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350).
Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331).
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 | 146 | Nucleophile | ||||
Sequence: D |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrion | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Molecular Function | pseudouridine synthase activity | |
Molecular Function | RNA binding | |
Molecular Function | steroid receptor RNA activator RNA binding | |
Molecular Function | tRNA binding | |
Molecular Function | tRNA pseudouridine(38-40) synthase activity | |
Biological Process | mitochondrial tRNA pseudouridine synthesis | |
Biological Process | mRNA processing | |
Biological Process | mRNA pseudouridine synthesis | |
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
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y606
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Isoform 1
Isoform 2
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)
- Note
- DescriptionA 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.
- See alsoMIM:600462
Natural variants in MLASA1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086155 | 101 | Q>R | in MLASA1; uncertain significance; dbSNP:rs753164046 | |
VAR_021788 | 144 | R>W | in MLASA1; dbSNP:rs104894371 | |
VAR_086156 | 220-427 | missing | in MLASA1 | |
VAR_086157 | 295 | R>Q | in MLASA1; uncertain significance; mild phenotype; dbSNP:rs1045133170 | |
VAR_086158 | 295 | R>W | in MLASA1; uncertain significance; mild phenotype; dbSNP:rs869025309 | |
VAR_086159 | 311-427 | missing | in MLASA1 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_086155 | 101 | in MLASA1; uncertain significance; dbSNP:rs753164046 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_036447 | 133 | in dbSNP:rs76655496 | |||
Sequence: D → N | ||||||
Natural variant | VAR_021788 | 144 | in MLASA1; dbSNP:rs104894371 | |||
Sequence: R → W | ||||||
Mutagenesis | 146 | Loss of enzyme activity. | ||||
Sequence: D → A | ||||||
Natural variant | VAR_086156 | 220-427 | in MLASA1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_086157 | 295 | in MLASA1; uncertain significance; mild phenotype; dbSNP:rs1045133170 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_086158 | 295 | in MLASA1; uncertain significance; mild phenotype; dbSNP:rs869025309 | |||
Sequence: R → W | ||||||
Natural variant | VAR_086159 | 311-427 | in MLASA1 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 556 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, transit peptide, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000057517 | ?-427 | UniProt | Pseudouridylate synthase 1 homolog | |||
Sequence: MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD | |||||||
Transit peptide | 1-? | UniProt | Mitochondrion | ||||
Modified residue | 415 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 415 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 420 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 420 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 426 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 426 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 20-83 | Disordered | ||||
Sequence: GPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPK | ||||||
Compositional bias | 50-83 | Basic and acidic residues | ||||
Sequence: SGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPK | ||||||
Region | 407-427 | Disordered | ||||
Sequence: GGTGAKVPSPLEGSEGDGDTD |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
Q9Y606-1
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
- Length427
- Mass (Da)47,470
- Last updated2006-09-05 v3
- ChecksumACE9FA6AE0F178BA
Q9Y606-2
- Name2
- Differences from canonical
- 1-28: Missing
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_020116 | 1-28 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 50-83 | Basic and acidic residues | ||||
Sequence: SGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPK | ||||||
Sequence conflict | 70 | in Ref. 4; AAD21042 | ||||
Sequence: K → R |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF318369 EMBL· GenBank· DDBJ | AAL55876.1 EMBL· GenBank· DDBJ | mRNA | ||
AK074659 EMBL· GenBank· DDBJ | BAG51983.1 EMBL· GenBank· DDBJ | mRNA | ||
AK292242 EMBL· GenBank· DDBJ | BAF84931.1 EMBL· GenBank· DDBJ | mRNA | ||
BC002901 EMBL· GenBank· DDBJ | AAH02901.1 EMBL· GenBank· DDBJ | mRNA | ||
BC009505 EMBL· GenBank· DDBJ | AAH09505.2 EMBL· GenBank· DDBJ | mRNA | ||
BC019320 EMBL· GenBank· DDBJ | AAH19320.2 EMBL· GenBank· DDBJ | mRNA | ||
AF116238 EMBL· GenBank· DDBJ | AAD21042.1 EMBL· GenBank· DDBJ | mRNA |