Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

tRNA pseudouridine synthase A

Gene

PUS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

tRNA uridine(38-40) = tRNA pseudouridine(38-40).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei146NucleophileCombined sources1 Publication1
Binding sitei201SubstrateBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIsomerase
Biological processtRNA processing

Enzyme and pathway databases

BRENDAi5.4.99.B22 2681
ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-6787450 tRNA modification in the mitochondrion

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000177192.13
HGNCiHGNC:15508 PUS1
MIMi608109 gene
neXtProtiNX_Q9Y606

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1)3 Publications
The disease is caused by mutations 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.
See also OMIM:600462
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021788144R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi146D → A: Loss of enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi80324
MalaCardsiPUS1
MIMi600462 phenotype
OpenTargetsiENSG00000177192
Orphaneti2598 Mitochondrial myopathy and sideroblastic anemia
PharmGKBiPA34047

Polymorphism and mutation databases

BioMutaiPUS1
DMDMi114152895

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000057517? – 427tRNA pseudouridine synthase A
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei415PhosphoserineCombined sources1
Modified residuei420PhosphoserineCombined sources1
Modified residuei426PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y606
PaxDbiQ9Y606
PeptideAtlasiQ9Y606
PRIDEiQ9Y606

PTM databases

iPTMnetiQ9Y606
PhosphoSitePlusiQ9Y606
SwissPalmiQ9Y606

Expressioni

Tissue specificityi

Widely expressed. High levels of expression found in brain and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000177192
CleanExiHS_PUS1
ExpressionAtlasiQ9Y606 baseline and differential
GenevisibleiQ9Y606 HS

Organism-specific databases

HPAiHPA051636
HPA057593

Interactioni

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

BioGridi123236, 49 interactors
IntActiQ9Y606, 6 interactors
MINTiQ9Y606
STRINGi9606.ENSP00000365837

Structurei

Secondary structure

1427
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi83 – 92Combined sources10
Beta strandi99 – 101Combined sources3
Helixi112 – 122Combined sources11
Helixi128 – 132Combined sources5
Helixi134 – 137Combined sources4
Beta strandi140 – 142Combined sources3
Beta strandi150 – 161Combined sources12
Helixi166 – 172Combined sources7
Beta strandi178 – 186Combined sources9
Helixi192 – 195Combined sources4
Beta strandi198 – 206Combined sources9
Helixi207 – 210Combined sources4
Turni213 – 215Combined sources3
Helixi226 – 238Combined sources13
Beta strandi241 – 244Combined sources4
Helixi246 – 248Combined sources3
Beta strandi249 – 251Combined sources3
Beta strandi252 – 254Combined sources3
Helixi257 – 259Combined sources3
Beta strandi260 – 268Combined sources9
Beta strandi272 – 274Combined sources3
Beta strandi277 – 288Combined sources12
Helixi293 – 305Combined sources13
Helixi313 – 317Combined sources5
Beta strandi319 – 321Combined sources3
Beta strandi333 – 338Combined sources6
Helixi341 – 344Combined sources4
Helixi359 – 361Combined sources3
Helixi362 – 371Combined sources10
Helixi373 – 384Combined sources12
Helixi386 – 391Combined sources6
Helixi392 – 396Combined sources5
Helixi401 – 404Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ9Y606
SMRiQ9Y606
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2553 Eukaryota
COG0101 LUCA
GeneTreeiENSGT00510000047706
HOGENOMiHOG000031229
HOVERGENiHBG000489
InParanoidiQ9Y606
KOiK06173
OMAiKNKCDAR
OrthoDBiEOG091G0CIE
PhylomeDBiQ9Y606
TreeFamiTF314367

Family and domain databases

Gene3Di3.30.70.660, 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
PANTHERiPTHR11142 PTHR11142, 1 hit
PfamiView protein in Pfam
PF01416 PseudoU_synth_1, 1 hit
SUPFAMiSSF55120 SSF55120, 1 hit
TIGRFAMsiTIGR00071 hisT_truA, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y606-1) [UniParc]FASTAAdd to basket

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.

« 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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70K → R in AAD21042 (PubMed:10094309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036447133D → N in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs76655496EnsemblClinVar.1
Natural variantiVAR_021788144R → W in MLASA1. 2 PublicationsCorresponds to variant dbSNP:rs104894371Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0201161 – 28Missing in isoform 2. 2 PublicationsAdd BLAST28

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]
UniGeneiHs.592004

Genome annotation databases

EnsembliENST00000376649; ENSP00000365837; ENSG00000177192 [Q9Y606-1]
ENST00000443358; ENSP00000392451; ENSG00000177192 [Q9Y606-2]
GeneIDi80324
KEGGihsa:80324
UCSCiuc001ujf.4 human [Q9Y606-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTRUA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y606
Secondary accession number(s): A8K877
, B3KQC1, Q8WYT2, Q9BU44
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 5, 2006
Last modified: May 23, 2018
This is version 165 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health