Q9BZE2 · PUS3_HUMAN
- ProteintRNA pseudouridine(38/39) synthase
- GenePUS3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids481 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.
Catalytic activity
- uridine(38/39) in tRNA = pseudouridine(38/39) in tRNA
RHEA-COMP:10117 CHEBI:65315 Position: 38CHEBI:65315 Position: 39= RHEA-COMP:10118 CHEBI:65314 Position: 38CHEBI:65314 Position: 39
Features
Showing features for active site, binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Active site | 118 | Nucleophile | ||||
Sequence: D | ||||||
Binding site | 195 | substrate | ||||
Sequence: Y |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | nucleus | |
Molecular Function | pseudouridine synthase activity | |
Molecular Function | RNA binding | |
Molecular Function | tRNA pseudouridine(38/39) synthase activity | |
Biological Process | mRNA pseudouridine synthesis | |
Biological Process | tRNA modification | |
Biological Process | tRNA pseudouridine synthesis |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nametRNA pseudouridine(38/39) synthase
- 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 accessionQ9BZE2
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS)
- Note
- DescriptionAn autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae.
- See alsoMIM:617051
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_030836 | 3 | in dbSNP:rs622756 | |||
Sequence: Y → D | ||||||
Natural variant | VAR_030837 | 46 | in dbSNP:rs549990 | |||
Sequence: A → S | ||||||
Natural variant | VAR_030838 | 460 | in dbSNP:rs3088241 | |||
Sequence: E → D |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 576 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 initiator methionine, modified residue, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Modified residue | 2 | UniProt | N-acetylalanine | ||||
Sequence: A | |||||||
Chain | PRO_0000057520 | 2-481 | UniProt | tRNA pseudouridine(38/39) synthase | |||
Sequence: AYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIIDELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSII | |||||||
Modified residue (large scale data) | 45 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 142 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 456 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 456 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 466 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 466 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 468 | UniProt | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Features
Showing features for compositional bias, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 29-43 | Basic and acidic residues | ||||
Sequence: KKEQAKNKEDSNIRE | ||||||
Region | 29-50 | Disordered | ||||
Sequence: KKEQAKNKEDSNIRENSAGAGK |
Sequence similarities
Belongs to the tRNA pseudouridine synthase TruA family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length481
- Mass (Da)55,647
- Last updated2007-02-20 v3
- Checksum54B93653DB333535
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E9PRI9 | E9PRI9_HUMAN | PUS3 | 169 | ||
E9PNY6 | E9PNY6_HUMAN | PUS3 | 105 | ||
A0A087WY59 | A0A087WY59_HUMAN | PUS3 | 273 |
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 29-43 | Basic and acidic residues | ||||
Sequence: KKEQAKNKEDSNIRE | ||||||
Sequence conflict | 145 | in Ref. 2; BAB70990 | ||||
Sequence: F → L |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF325689 EMBL· GenBank· DDBJ | AAG50280.1 EMBL· GenBank· DDBJ | mRNA | ||
AK055702 EMBL· GenBank· DDBJ | BAB70990.1 EMBL· GenBank· DDBJ | mRNA | ||
AK314251 EMBL· GenBank· DDBJ | BAG36917.1 EMBL· GenBank· DDBJ | mRNA | ||
BC004822 EMBL· GenBank· DDBJ | AAH04822.1 EMBL· GenBank· DDBJ | mRNA | ||
BC013427 EMBL· GenBank· DDBJ | AAH13427.2 EMBL· GenBank· DDBJ | mRNA |