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UniProtKB - Q9Y606 (PUS1_HUMAN)

Entry version 190 (25 May 2022)
Sequence version 3 (05 Sep 2006)
Previous versions | rss
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Protein

Pseudouridylate synthase 1 homolog

Gene

PUS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei146NucleophileCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase
Biological processmRNA processing, mRNA splicing, tRNA processing

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		5.4.99.B22, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y606

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6782315, tRNA modification in the nucleus and cytosol [Q9Y606-2]
R-HSA-6787450, tRNA modification in the mitochondrion [Q9Y606-1]

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9Y606

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Pseudouridylate synthase 1 homologCurated (EC:5.4.99.-1 Publication2 Publications)
Alternative name(s):
tRNA pseudouridine synthase 1Curated (EC:5.4.99.121 Publication)
tRNA pseudouridine(38-40) synthase
tRNA pseudouridylate synthase I
tRNA-uridine isomerase I
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PUS11 PublicationImported
ORF Names:PP89851 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15508, PUS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608109, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y606

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000177192

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)11 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_086155101Q → R in MLASA1; unknown pathological significance. 1 Publication1
Natural variantiVAR_021788144R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371EnsemblClinVar.1
Natural variantiVAR_086156220 – 427Missing in MLASA1. 2 PublicationsAdd BLAST208
Natural variantiVAR_086157295R → Q in MLASA1; unknown pathological significance; mild phenotype. 1 Publication1
Natural variantiVAR_086158295R → W in MLASA1; unknown pathological significance; mild phenotype. 1 Publication1
Natural variantiVAR_086159311 – 427Missing in MLASA1. 1 PublicationAdd BLAST117

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi146D → A: Loss of enzyme activity. 1 Publication1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		80324

MalaCards human disease database

More...MalaCardsi		PUS1
MIMi600462, phenotype

Open Targets

More...OpenTargetsi		ENSG00000177192

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2598, Mitochondrial myopathy and sideroblastic anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34047

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y606, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PUS1

Domain mapping of disease mutations (DMDM)

More...DMDMi		114152895

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – ?MitochondrionSequence analysis
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000057517? – 427Pseudouridylate synthase 1 homolog

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei415PhosphoserineCombined sources1
Modified residuei420PhosphoserineCombined sources1
Modified residuei426PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y606

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y606

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y606

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y606

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y606

PeptideAtlas

More...PeptideAtlasi		Q9Y606

PRoteomics IDEntifications database

More...PRIDEi		Q9Y606

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86569 [Q9Y606-1]
86570 [Q9Y606-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y606

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y606

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y606

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed (PubMed:15108122). High levels of expression found in brain and skeletal muscle (PubMed:15108122).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000177192, Expressed in prostate gland and 194 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y606, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y606, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000177192, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:23707380, PubMed:24722331).

Forms a complex with RARG and the SRA1 RNA in the nucleus (By similarity).

By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123236, 121 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y606, 21 interactors

Molecular INTeraction database

More...MINTi		Q9Y606

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000365837

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y606, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1427
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9Y606

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y606

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni20 – 83DisorderedSequence analysisAdd BLAST64
Regioni407 – 427DisorderedSequence analysisAdd BLAST21

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi50 – 83Basic and acidic residuesSequence analysisAdd BLAST34

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the tRNA pseudouridine synthase TruA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2553, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183160

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y606

Identification of Orthologs from Complete Genome Data

More...OMAi		AVMIGYC

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y606

TreeFam database of animal gene trees

More...TreeFami		TF314367

Family and domain databases

Conserved Domains Database

More...CDDi		cd02568, PseudoU_synth_PUS1_PUS2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.580, 1 hit
3.30.70.660, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

The PANTHER Classification System

More...PANTHERi		PTHR11142, PTHR11142, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01416, PseudoU_synth_1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF55120, SSF55120, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00071, hisT_truA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:427
Mass (Da):47,470
Last modified:September 5, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iACE9FA6AE0F178BA
GO
Isoform 2 (identifier: Q9Y606-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:399
Mass (Da):44,377
Checksum:i56F36851979AFE3B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G8JLB3G8JLB3_HUMAN
tRNA pseudouridine synthase A
PUS1
384Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H1S9F5H1S9_HUMAN
tRNA pseudouridine synthase A
PUS1
374Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GXL3F5GXL3_HUMAN
tRNA pseudouridine synthase A
PUS1
200Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GY32F5GY32_HUMAN
tRNA pseudouridine synthase A
PUS1
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H168F5H168_HUMAN
tRNA pseudouridine synthase A
PUS1
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H1B2F5H1B2_HUMAN
tRNA pseudouridine synthase A
PUS1
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W9U5F8W9U5_HUMAN
tRNA pseudouridine synthase A
PUS1
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti70K → R in AAD21042 (PubMed:10094309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_086155101Q → R in MLASA1; unknown pathological significance. 1 Publication1
Natural variantiVAR_036447133D → N1 PublicationCorresponds to variant dbSNP:rs76655496EnsemblClinVar.1
Natural variantiVAR_021788144R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371EnsemblClinVar.1
Natural variantiVAR_086156220 – 427Missing in MLASA1. 2 PublicationsAdd BLAST208
Natural variantiVAR_086157295R → Q in MLASA1; unknown pathological significance; mild phenotype. 1 Publication1
Natural variantiVAR_086158295R → W in MLASA1; unknown pathological significance; mild phenotype. 1 Publication1
Natural variantiVAR_086159311 – 427Missing in MLASA1. 1 PublicationAdd BLAST117

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0201161 – 28Missing in isoform 2. 2 PublicationsAdd BLAST28

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31928.1 [Q9Y606-2]
CCDS9275.2 [Q9Y606-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000376649.8; ENSP00000365837.3; ENSG00000177192.14
ENST00000443358.6; ENSP00000392451.2; ENSG00000177192.14 [Q9Y606-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80324

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80324

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000376649.8; ENSP00000365837.3; NM_025215.6; NP_079491.2

UCSC genome browser

More...UCSCi		uc001ujf.4, human [Q9Y606-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS31928.1 [Q9Y606-2]
CCDS9275.2 [Q9Y606-1]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IQMX-ray1.80A79-408[»]
4ITSX-ray1.85A79-408[»]
4J37X-ray1.75A79-408[»]
4NZ6X-ray2.00A/B83-394[»]
4NZ7X-ray2.70A83-394[»]
AlphaFoldDBiQ9Y606
SMRiQ9Y606
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123236, 121 interactors
IntActiQ9Y606, 21 interactors
MINTiQ9Y606
STRINGi9606.ENSP00000365837

PTM databases

iPTMnetiQ9Y606
PhosphoSitePlusiQ9Y606
SwissPalmiQ9Y606

Genetic variation databases

BioMutaiPUS1
DMDMi114152895

Proteomic databases

EPDiQ9Y606
jPOSTiQ9Y606
MassIVEiQ9Y606
MaxQBiQ9Y606
PaxDbiQ9Y606
PeptideAtlasiQ9Y606
PRIDEiQ9Y606
ProteomicsDBi86569 [Q9Y606-1]
86570 [Q9Y606-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32008, 161 antibodies from 28 providers

The DNASU plasmid repository

More...DNASUi		80324

Genome annotation databases

EnsembliENST00000376649.8; ENSP00000365837.3; ENSG00000177192.14
ENST00000443358.6; ENSP00000392451.2; ENSG00000177192.14 [Q9Y606-2]
GeneIDi80324
KEGGihsa:80324
MANE-SelectiENST00000376649.8; ENSP00000365837.3; NM_025215.6; NP_079491.2
UCSCiuc001ujf.4, human [Q9Y606-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80324
DisGeNETi80324

GeneCards: human genes, protein and diseases

More...GeneCardsi		PUS1
HGNCiHGNC:15508, PUS1
HPAiENSG00000177192, Low tissue specificity
MalaCardsiPUS1
MIMi600462, phenotype
608109, gene
neXtProtiNX_Q9Y606
OpenTargetsiENSG00000177192
Orphaneti2598, Mitochondrial myopathy and sideroblastic anemia
PharmGKBiPA34047
VEuPathDBiHostDB:ENSG00000177192

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2553, Eukaryota
GeneTreeiENSGT00950000183160
InParanoidiQ9Y606
OMAiAVMIGYC
PhylomeDBiQ9Y606
TreeFamiTF314367

Enzyme and pathway databases

BRENDAi5.4.99.B22, 2681
PathwayCommonsiQ9Y606
ReactomeiR-HSA-6782315, tRNA modification in the nucleus and cytosol [Q9Y606-2]
R-HSA-6787450, tRNA modification in the mitochondrion [Q9Y606-1]
SignaLinkiQ9Y606

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80324, 38 hits in 1089 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PUS1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PUS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		80324
PharosiQ9Y606, Tbio

Protein Ontology

More...PROi		PR:Q9Y606
RNActiQ9Y606, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000177192, Expressed in prostate gland and 194 other tissues
ExpressionAtlasiQ9Y606, baseline and differential
GenevisibleiQ9Y606, HS

Family and domain databases

CDDicd02568, PseudoU_synth_PUS1_PUS2, 1 hit
Gene3Di3.30.70.580, 1 hit
3.30.70.660, 1 hit
InterProiView 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
PANTHERiPTHR11142, PTHR11142, 1 hit
PfamiView protein in Pfam
PF01416, PseudoU_synth_1, 1 hit
SUPFAMiSSF55120, SSF55120, 1 hit
TIGRFAMsiTIGR00071, hisT_truA, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPUS1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y606
Secondary accession number(s): A8K877
, B3KQC1, Q8WYT2, Q9BU44
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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