UniProtKB - Q9Y606 (TRUA_HUMAN)
Protein
tRNA pseudouridine synthase A
Gene
PUS1
Organism
Homo sapiens (Human)
Status
Functioni
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 through pseudouridylation of SRA1 RNA.1 Publication
Catalytic activityi
- EC:5.4.99.121 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 146 | NucleophileCombined sources1 Publication | 1 | |
Binding sitei | 201 | SubstrateBy similarity | 1 |
GO - Molecular functioni
- pseudouridine synthase activity Source: UniProtKB
- RNA binding Source: UniProtKB
- steroid receptor RNA activator RNA binding Source: UniProtKB
- tRNA binding Source: UniProtKB
- tRNA pseudouridine synthase activity Source: UniProtKB-EC
GO - Biological processi
- mitochondrial tRNA pseudouridine synthesis Source: Reactome
- mRNA pseudouridine synthesis Source: GO_Central
- tRNA pseudouridine synthesis Source: GO_Central
Keywordsi
Molecular function | Isomerase |
Biological process | tRNA processing |
Enzyme and pathway databases
BRENDAi | 5.4.99.B22, 2681 |
PathwayCommonsi | Q9Y606 |
Reactomei | R-HSA-6782315, tRNA modification in the nucleus and cytosol [Q9Y606-2] R-HSA-6787450, tRNA modification in the mitochondrion [Q9Y606-1] |
Names & Taxonomyi
Protein namesi | Recommended name: tRNA pseudouridine synthase A (EC:5.4.99.121 Publication)Alternative name(s): tRNA pseudouridine(38-40) synthase tRNA pseudouridylate synthase I tRNA-uridine isomerase I |
Gene namesi | Name:PUS1 ORF Names:PP8985 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15508, PUS1 |
MIMi | 608109, gene |
neXtProti | NX_Q9Y606 |
VEuPathDBi | HostDB:ENSG00000177192.13 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Nucleus
- Nucleus 1 Publication
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Keywords - Cellular componenti
Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021788 | 144 | R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 146 | D → A: Loss of enzyme activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 80324 |
MalaCardsi | PUS1 |
MIMi | 600462, phenotype |
OpenTargetsi | ENSG00000177192 |
Orphaneti | 2598, Mitochondrial myopathy and sideroblastic anemia |
PharmGKBi | PA34047 |
Miscellaneous databases
Pharosi | Q9Y606, Tbio |
Genetic variation databases
BioMutai | PUS1 |
DMDMi | 114152895 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – ? | MitochondrionSequence analysis | ||
ChainiPRO_0000057517 | ? – 427 | tRNA pseudouridine synthase A |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 415 | PhosphoserineCombined sources | 1 | |
Modified residuei | 420 | PhosphoserineCombined sources | 1 | |
Modified residuei | 426 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y606 |
jPOSTi | Q9Y606 |
MassIVEi | Q9Y606 |
PaxDbi | Q9Y606 |
PeptideAtlasi | Q9Y606 |
PRIDEi | Q9Y606 |
ProteomicsDBi | 86569 [Q9Y606-1] 86570 [Q9Y606-2] |
PTM databases
iPTMneti | Q9Y606 |
PhosphoSitePlusi | Q9Y606 |
SwissPalmi | Q9Y606 |
Expressioni
Tissue specificityi
Widely expressed. High levels of expression found in brain and skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000177192, Expressed in prostate gland and 194 other tissues |
ExpressionAtlasi | Q9Y606, baseline and differential |
Genevisiblei | Q9Y606, HS |
Organism-specific databases
HPAi | ENSG00000177192, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 123236, 58 interactors |
IntActi | Q9Y606, 20 interactors |
MINTi | Q9Y606 |
STRINGi | 9606.ENSP00000365837 |
Miscellaneous databases
RNActi | Q9Y606, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9Y606 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the tRNA pseudouridine synthase TruA family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2553, Eukaryota |
GeneTreei | ENSGT00950000183160 |
InParanoidi | Q9Y606 |
OMAi | QVQIACF |
PhylomeDBi | Q9Y606 |
TreeFami | TF314367 |
Family and domain databases
CDDi | cd02568, PseudoU_synth_PUS1_PUS2, 1 hit |
Gene3Di | 3.30.70.660, 1 hit |
InterProi | View protein in InterPro IPR020103, PsdUridine_synth_cat_dom_sf IPR001406, PsdUridine_synth_TruA IPR020097, PsdUridine_synth_TruA_a/b_dom IPR020095, PsdUridine_synth_TruA_C IPR041708, PUS1/PUS2-like |
PANTHERi | PTHR11142, PTHR11142, 1 hit |
Pfami | View protein in Pfam PF01416, PseudoU_synth_1, 1 hit |
SUPFAMi | SSF55120, SSF55120, 1 hit |
TIGRFAMsi | TIGR00071, hisT_truA, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y606-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGLQLRALLG AFGRWTLRLG PRPSCSPRMA GNAEPPPAGA ACPQDRRSCS
60 70 80 90 100
GRAGGDRVWE DGEHPAKKLK SGGDEERREK PPKRKIVLLM AYSGKGYHGM
110 120 130 140 150
QRNVGSSQFK TIEDDLVSAL VRSGCIPENH GEDMRKMSFQ RCARTDKGVS
160 170 180 190 200
AAGQVVSLKV WLIDDILEKI NSHLPSHIRI LGLKRVTGGF NSKNRCDART
210 220 230 240 250
YCYLLPTFAF AHKDRDVQDE TYRLSAETLQ QVNRLLACYK GTHNFHNFTS
260 270 280 290 300
QKGPQDPSAC RYILEMYCEE PFVREGLEFA VIRVKGQSFM MHQIRKMVGL
310 320 330 340 350
VVAIVKGYAP ESVLERSWGT EKVDVPKAPG LGLVLERVHF EKYNQRFGND
360 370 380 390 400
GLHEPLDWAQ EEGKVAAFKE EHIYPTIIGT ERDERSMAQW LSTLPIHNFS
410 420
ATALTAGGTG AKVPSPLEGS EGDGDTD
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG8JLB3 | G8JLB3_HUMAN | tRNA pseudouridine synthase A | PUS1 | 384 | Annotation score: | ||
F5H1S9 | F5H1S9_HUMAN | tRNA pseudouridine synthase A | PUS1 | 374 | Annotation score: | ||
F5GXL3 | F5GXL3_HUMAN | tRNA pseudouridine synthase A | PUS1 | 200 | Annotation score: | ||
F5H168 | F5H168_HUMAN | tRNA pseudouridine synthase A | PUS1 | 134 | Annotation score: | ||
F5H1B2 | F5H1B2_HUMAN | tRNA pseudouridine synthase A | PUS1 | 184 | Annotation score: | ||
F8W9U5 | F8W9U5_HUMAN | tRNA pseudouridine synthase A | PUS1 | 156 | Annotation score: | ||
F5GY32 | F5GY32_HUMAN | tRNA pseudouridine synthase A | PUS1 | 153 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 70 | K → R in AAD21042 (PubMed:10094309).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036447 | 133 | D → N1 PublicationCorresponds to variant dbSNP:rs76655496EnsemblClinVar. | 1 | |
Natural variantiVAR_021788 | 144 | R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020116 | 1 – 28 | Missing in isoform 2. 2 PublicationsAdd BLAST | 28 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF318369 mRNA Translation: AAL55876.1 AK074659 mRNA Translation: BAG51983.1 AK292242 mRNA Translation: BAF84931.1 BC002901 mRNA Translation: AAH02901.1 BC009505 mRNA Translation: AAH09505.2 BC019320 mRNA Translation: AAH19320.2 AF116238 mRNA Translation: AAD21042.1 |
CCDSi | CCDS31928.1 [Q9Y606-2] CCDS9275.2 [Q9Y606-1] |
RefSeqi | NP_001002019.1, NM_001002019.2 [Q9Y606-2] NP_001002020.1, NM_001002020.2 [Q9Y606-2] NP_079491.2, NM_025215.5 [Q9Y606-1] |
Genome annotation databases
Ensembli | ENST00000376649; ENSP00000365837; ENSG00000177192 [Q9Y606-1] ENST00000443358; ENSP00000392451; ENSG00000177192 [Q9Y606-2] |
GeneIDi | 80324 |
KEGGi | hsa:80324 |
UCSCi | uc001ujf.4, human [Q9Y606-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF318369 mRNA Translation: AAL55876.1 AK074659 mRNA Translation: BAG51983.1 AK292242 mRNA Translation: BAF84931.1 BC002901 mRNA Translation: AAH02901.1 BC009505 mRNA Translation: AAH09505.2 BC019320 mRNA Translation: AAH19320.2 AF116238 mRNA Translation: AAD21042.1 |
CCDSi | CCDS31928.1 [Q9Y606-2] CCDS9275.2 [Q9Y606-1] |
RefSeqi | NP_001002019.1, NM_001002019.2 [Q9Y606-2] NP_001002020.1, NM_001002020.2 [Q9Y606-2] NP_079491.2, NM_025215.5 [Q9Y606-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4IQM | X-ray | 1.80 | A | 79-408 | [»] | |
4ITS | X-ray | 1.85 | A | 79-408 | [»] | |
4J37 | X-ray | 1.75 | A | 79-408 | [»] | |
4NZ6 | X-ray | 2.00 | A/B | 83-394 | [»] | |
4NZ7 | X-ray | 2.70 | A | 83-394 | [»] | |
SMRi | Q9Y606 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123236, 58 interactors |
IntActi | Q9Y606, 20 interactors |
MINTi | Q9Y606 |
STRINGi | 9606.ENSP00000365837 |
PTM databases
iPTMneti | Q9Y606 |
PhosphoSitePlusi | Q9Y606 |
SwissPalmi | Q9Y606 |
Genetic variation databases
BioMutai | PUS1 |
DMDMi | 114152895 |
Proteomic databases
EPDi | Q9Y606 |
jPOSTi | Q9Y606 |
MassIVEi | Q9Y606 |
PaxDbi | Q9Y606 |
PeptideAtlasi | Q9Y606 |
PRIDEi | Q9Y606 |
ProteomicsDBi | 86569 [Q9Y606-1] 86570 [Q9Y606-2] |
Protocols and materials databases
Antibodypediai | 32008, 154 antibodies |
DNASUi | 80324 |
Genome annotation databases
Ensembli | ENST00000376649; ENSP00000365837; ENSG00000177192 [Q9Y606-1] ENST00000443358; ENSP00000392451; ENSG00000177192 [Q9Y606-2] |
GeneIDi | 80324 |
KEGGi | hsa:80324 |
UCSCi | uc001ujf.4, human [Q9Y606-1] |
Organism-specific databases
CTDi | 80324 |
DisGeNETi | 80324 |
GeneCardsi | PUS1 |
HGNCi | HGNC:15508, PUS1 |
HPAi | ENSG00000177192, Low tissue specificity |
MalaCardsi | PUS1 |
MIMi | 600462, phenotype 608109, gene |
neXtProti | NX_Q9Y606 |
OpenTargetsi | ENSG00000177192 |
Orphaneti | 2598, Mitochondrial myopathy and sideroblastic anemia |
PharmGKBi | PA34047 |
VEuPathDBi | HostDB:ENSG00000177192.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2553, Eukaryota |
GeneTreei | ENSGT00950000183160 |
InParanoidi | Q9Y606 |
OMAi | QVQIACF |
PhylomeDBi | Q9Y606 |
TreeFami | TF314367 |
Enzyme and pathway databases
BRENDAi | 5.4.99.B22, 2681 |
PathwayCommonsi | Q9Y606 |
Reactomei | R-HSA-6782315, tRNA modification in the nucleus and cytosol [Q9Y606-2] R-HSA-6787450, tRNA modification in the mitochondrion [Q9Y606-1] |
Miscellaneous databases
BioGRID-ORCSi | 80324, 29 hits in 880 CRISPR screens |
ChiTaRSi | PUS1, human |
GeneWikii | PUS1 |
GenomeRNAii | 80324 |
Pharosi | Q9Y606, Tbio |
PROi | PR:Q9Y606 |
RNActi | Q9Y606, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177192, Expressed in prostate gland and 194 other tissues |
ExpressionAtlasi | Q9Y606, baseline and differential |
Genevisiblei | Q9Y606, HS |
Family and domain databases
CDDi | cd02568, PseudoU_synth_PUS1_PUS2, 1 hit |
Gene3Di | 3.30.70.660, 1 hit |
InterProi | View protein in InterPro IPR020103, PsdUridine_synth_cat_dom_sf IPR001406, PsdUridine_synth_TruA IPR020097, PsdUridine_synth_TruA_a/b_dom IPR020095, PsdUridine_synth_TruA_C IPR041708, PUS1/PUS2-like |
PANTHERi | PTHR11142, PTHR11142, 1 hit |
Pfami | View protein in Pfam PF01416, PseudoU_synth_1, 1 hit |
SUPFAMi | SSF55120, SSF55120, 1 hit |
TIGRFAMsi | TIGR00071, hisT_truA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TRUA_HUMAN | |
Accessioni | Q9Y606Primary (citable) accession number: Q9Y606 Secondary accession number(s): A8K877 Q9BU44 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | September 5, 2006 | |
Last modified: | February 10, 2021 | |
This is version 185 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families