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Protein

tRNA pseudouridine synthase A, mitochondrial

Gene

PUS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 possibly through pseudouridylation of SRA1 RNA (By similarity).By similarity

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei146NucleophileBy similarity1
Binding sitei201SubstrateBy similarity1

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • pseudouridine synthase activity Source: Reactome
  • pseudouridylate synthase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

tRNA processing

Enzyme and pathway databases

BioCyciZFISH:HS11137-MONOMER.
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, mitochondrial (EC:5.4.99.12)
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

HGNCiHGNC:15508. PUS1.

Subcellular locationi

Isoform 1 :
Isoform 2 :

GO - Cellular componenti

Complete GO annotation...

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 rs104894371dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

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, mitochondrial
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

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

Protein-protein interaction databases

BioGridi123236. 48 interactors.
IntActiQ9Y606. 4 interactors.
MINTiMINT-2823994.
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

Gene3Di3.30.70.580. 1 hit.
3.30.70.660. 1 hit.
InterProiIPR020103. PsdUridine_synth_cat_dom.
IPR001406. PsdUridine_synth_TruA.
IPR020097. PsdUridine_synth_TruA_a/b_dom.
IPR020095. PsdUridine_synth_TruA_C.
IPR020094. PsdUridine_synth_TruA_N.
[Graphical view]
PANTHERiPTHR11142. PTHR11142. 1 hit.
PfamiPF01416. PseudoU_synth_1. 1 hit.
[Graphical view]
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 rs76655496dbSNPEnsembl.1
Natural variantiVAR_021788144R → W in MLASA1. 2 PublicationsCorresponds to variant rs104894371dbSNPEnsembl.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

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]
UniGeneiHs.592004.

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...

Protein-protein interaction databases

BioGridi123236. 48 interactors.
IntActiQ9Y606. 4 interactors.
MINTiMINT-2823994.
STRINGi9606.ENSP00000365837.

PTM databases

iPTMnetiQ9Y606.
PhosphoSitePlusiQ9Y606.
SwissPalmiQ9Y606.

Polymorphism and mutation databases

BioMutaiPUS1.
DMDMi114152895.

Proteomic databases

EPDiQ9Y606.
PaxDbiQ9Y606.
PeptideAtlasiQ9Y606.
PRIDEiQ9Y606.

Protocols and materials databases

DNASUi80324.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80324.
DisGeNETi80324.
GeneCardsiPUS1.
HGNCiHGNC:15508. PUS1.
HPAiHPA051636.
HPA057593.
MalaCardsiPUS1.
MIMi600462. phenotype.
608109. gene.
neXtProtiNX_Q9Y606.
OpenTargetsiENSG00000177192.
Orphaneti2598. Mitochondrial myopathy and sideroblastic anemia.
PharmGKBiPA34047.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:HS11137-MONOMER.
BRENDAi5.4.99.B22. 2681.
ReactomeiR-HSA-6782315. tRNA modification in the nucleus and cytosol.
R-HSA-6787450. tRNA modification in the mitochondrion.

Miscellaneous databases

ChiTaRSiPUS1. human.
GeneWikiiPUS1.
GenomeRNAii80324.
PROiQ9Y606.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177192.
CleanExiHS_PUS1.
ExpressionAtlasiQ9Y606. baseline and differential.
GenevisibleiQ9Y606. HS.

Family and domain databases

Gene3Di3.30.70.580. 1 hit.
3.30.70.660. 1 hit.
InterProiIPR020103. PsdUridine_synth_cat_dom.
IPR001406. PsdUridine_synth_TruA.
IPR020097. PsdUridine_synth_TruA_a/b_dom.
IPR020095. PsdUridine_synth_TruA_C.
IPR020094. PsdUridine_synth_TruA_N.
[Graphical view]
PANTHERiPTHR11142. PTHR11142. 1 hit.
PfamiPF01416. PseudoU_synth_1. 1 hit.
[Graphical view]
SUPFAMiSSF55120. SSF55120. 1 hit.
TIGRFAMsiTIGR00071. hisT_truA. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiTRUA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y606
Secondary accession number(s): A8K877
, B3KQC1, Q8WYT2, Q9BU44
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 5, 2006
Last modified: November 2, 2016
This is version 155 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.