UniProtKB - Q9Y606 (PUS1_HUMAN)
Pseudouridylate synthase 1 homolog
PUS1
Functioni
Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331).
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).
4 PublicationsCatalytic activityi
- EC:5.4.99.121 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 146 | NucleophileCombined sources1 Publication | 1 |
GO - Molecular functioni
- pseudouridine synthase activity Source: FlyBase
- 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: FlyBase
- tRNA pseudouridine synthesis Source: GO_Central
Keywordsi
Molecular function | Isomerase |
Biological process | mRNA processing, mRNA splicing, 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] |
SignaLinki | Q9Y606 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | ORF Names:PP89851 Publication |
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 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication1 Publication
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: FlyBase
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)11 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_086155 | 101 | Q → R in MLASA1; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_021788 | 144 | R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371EnsemblClinVar. | 1 | |
Natural variantiVAR_086156 | 220 – 427 | Missing in MLASA1. 2 PublicationsAdd BLAST | 208 | |
Natural variantiVAR_086157 | 295 | R → Q in MLASA1; unknown pathological significance; mild phenotype. 1 Publication | 1 | |
Natural variantiVAR_086158 | 295 | R → W in MLASA1; unknown pathological significance; mild phenotype. 1 Publication | 1 | |
Natural variantiVAR_086159 | 311 – 427 | Missing in MLASA1. 1 PublicationAdd BLAST | 117 |
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 | Pseudouridylate synthase 1 homolog |
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 |
MaxQBi | 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
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, 121 interactors |
IntActi | Q9Y606, 21 interactors |
MINTi | Q9Y606 |
STRINGi | 9606.ENSP00000365837 |
Miscellaneous databases
RNActi | Q9Y606, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9Y606 |
SMRi | Q9Y606 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 20 – 83 | DisorderedSequence analysisAdd BLAST | 64 | |
Regioni | 407 – 427 | DisorderedSequence analysisAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 50 – 83 | Basic and acidic residuesSequence analysisAdd BLAST | 34 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2553, Eukaryota |
GeneTreei | ENSGT00950000183160 |
InParanoidi | Q9Y606 |
OMAi | AVMIGYC |
PhylomeDBi | Q9Y606 |
TreeFami | TF314367 |
Family and domain databases
CDDi | cd02568, PseudoU_synth_PUS1_PUS2, 1 hit |
Gene3Di | 3.30.70.580, 1 hit 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 IPR020094, TruA/RsuA/RluB/E/F_N |
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
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: | ||
F5GY32 | F5GY32_HUMAN | tRNA pseudouridine synthase A | PUS1 | 153 | 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: |
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_086155 | 101 | Q → R in MLASA1; unknown pathological significance. 1 Publication | 1 | |
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 | |
Natural variantiVAR_086156 | 220 – 427 | Missing in MLASA1. 2 PublicationsAdd BLAST | 208 | |
Natural variantiVAR_086157 | 295 | R → Q in MLASA1; unknown pathological significance; mild phenotype. 1 Publication | 1 | |
Natural variantiVAR_086158 | 295 | R → W in MLASA1; unknown pathological significance; mild phenotype. 1 Publication | 1 | |
Natural variantiVAR_086159 | 311 – 427 | Missing in MLASA1. 1 PublicationAdd BLAST | 117 |
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 | ENST00000376649.8; ENSP00000365837.3; ENSG00000177192.14 ENST00000443358.6; ENSP00000392451.2; ENSG00000177192.14 [Q9Y606-2] |
GeneIDi | 80324 |
KEGGi | hsa:80324 |
MANE-Selecti | ENST00000376649.8; ENSP00000365837.3; NM_025215.6; NP_079491.2 |
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 | [»] | |
AlphaFoldDBi | Q9Y606 | |||||
SMRi | Q9Y606 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123236, 121 interactors |
IntActi | Q9Y606, 21 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 |
MaxQBi | Q9Y606 |
PaxDbi | Q9Y606 |
PeptideAtlasi | Q9Y606 |
PRIDEi | Q9Y606 |
ProteomicsDBi | 86569 [Q9Y606-1] 86570 [Q9Y606-2] |
Protocols and materials databases
Antibodypediai | 32008, 161 antibodies from 28 providers |
DNASUi | 80324 |
Genome annotation databases
Ensembli | ENST00000376649.8; ENSP00000365837.3; ENSG00000177192.14 ENST00000443358.6; ENSP00000392451.2; ENSG00000177192.14 [Q9Y606-2] |
GeneIDi | 80324 |
KEGGi | hsa:80324 |
MANE-Selecti | ENST00000376649.8; ENSP00000365837.3; NM_025215.6; NP_079491.2 |
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 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2553, Eukaryota |
GeneTreei | ENSGT00950000183160 |
InParanoidi | Q9Y606 |
OMAi | AVMIGYC |
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] |
SignaLinki | Q9Y606 |
Miscellaneous databases
BioGRID-ORCSi | 80324, 38 hits in 1089 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 | 3.30.70.580, 1 hit 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 IPR020094, TruA/RsuA/RluB/E/F_N |
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 |
MobiDBi | Search... |
Entry informationi
Entry namei | PUS1_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: | May 25, 2022 | |
This is version 190 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