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Protein

tRNA pseudouridine(38/39) synthase

Gene

PUS3

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

Functioni

Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.1 Publication

Catalytic activityi

tRNA uridine(38/39) = tRNA pseudouridine(38/39).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei118NucleophileBy similarity1
Binding sitei195SubstrateBy similarity1

GO - Molecular functioni

  • pseudouridine synthase activity Source: UniProtKB
  • RNA binding Source: InterPro

GO - Biological processi

  • mRNA pseudouridine synthesis Source: GO_Central
  • tRNA modification Source: Reactome
  • tRNA pseudouridine synthesis Source: UniProtKB

Keywordsi

Molecular functionIsomerase
Biological processtRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
tRNA pseudouridine(38/39) synthase (EC:5.4.99.451 Publication)
Alternative name(s):
tRNA pseudouridine synthase 3
tRNA pseudouridylate synthase 3
tRNA-uridine isomerase 3
Gene namesi
Name:PUS3
ORF Names:FKSG32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110060.8
HGNCiHGNC:25461 PUS3
MIMi616283 gene
neXtProtiNX_Q9BZE2

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 55 (MRT55)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:617051

Keywords - Diseasei

Mental retardation

Organism-specific databases

MalaCardsiPUS3
MIMi617051 phenotype
OpenTargetsiENSG00000110060
PharmGKBiPA134874048

Polymorphism and mutation databases

BioMutaiPUS3
DMDMi126302589

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000575202 – 481tRNA pseudouridine(38/39) synthaseAdd BLAST480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei456PhosphothreonineCombined sources1
Modified residuei466PhosphothreonineCombined sources1
Modified residuei468PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9BZE2
MaxQBiQ9BZE2
PaxDbiQ9BZE2
PeptideAtlasiQ9BZE2
PRIDEiQ9BZE2
ProteomicsDBi79820

PTM databases

iPTMnetiQ9BZE2
PhosphoSitePlusiQ9BZE2

Expressioni

Gene expression databases

BgeeiENSG00000110060
CleanExiHS_PUS3
ExpressionAtlasiQ9BZE2 baseline and differential
GenevisibleiQ9BZE2 HS

Organism-specific databases

HPAiHPA038040
HPA063802

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000227474

Structurei

3D structure databases

ProteinModelPortaliQ9BZE2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2554 Eukaryota
COG0101 LUCA
GeneTreeiENSGT00510000047444
HOGENOMiHOG000199032
HOVERGENiHBG053769
InParanoidiQ9BZE2
KOiK01855
OMAiKRVCVDT
OrthoDBiEOG091G05MF
PhylomeDBiQ9BZE2
TreeFamiTF314428

Family and domain databases

Gene3Di3.30.70.660, 1 hit
HAMAPiMF_00171 TruA, 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

Sequencei

Sequence statusi: Complete.

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

Q9BZE2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAYNDTDRNQ TEKLLKRVRE LEQEVQRLKK EQAKNKEDSN IRENSAGAGK
60 70 80 90 100
TKRAFDFSAH GRRHVALRIA YMGWGYQGFA SQENTNNTIE EKLFEALTKT
110 120 130 140 150
RLVESRQTSN YHRCGRTDKG VSAFGQVISL DLRSQFPRGR DSEDFNVKEE
160 170 180 190 200
ANAAAEEIRY THILNRVLPP DIRILAWAPV EPSFSARFSC LERTYRYFFP
210 220 230 240 250
RADLDIVTMD YAAQKYVGTH DFRNLCKMDV ANGVINFQRT ILSAQVQLVG
260 270 280 290 300
QSPGEGRWQE PFQLCQFEVT GQAFLYHQVR CMMAILFLIG QGMEKPEIID
310 320 330 340 350
ELLNIEKNPQ KPQYSMAVEF PLVLYDCKFE NVKWIYDQEA QEFNITHLQQ
360 370 380 390 400
LWANHAVKTH MLYSMLQGLD TVPVPCGIGP KMDGMTEWGN VKPSVIKQTS
410 420 430 440 450
AFVEGVKMRT YKPLMDRPKC QGLESRIQHF VRRGRIEHPH LFHEEETKAK
460 470 480
RDCNDTLEEE NTNLETPTKR VCVDTEIKSI I
Length:481
Mass (Da):55,647
Last modified:February 20, 2007 - v3
Checksum:i54B93653DB333535
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti145F → L in BAB70990 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0308363Y → D2 PublicationsCorresponds to variant dbSNP:rs622756Ensembl.1
Natural variantiVAR_03083746A → S2 PublicationsCorresponds to variant dbSNP:rs549990Ensembl.1
Natural variantiVAR_030838460E → D1 PublicationCorresponds to variant dbSNP:rs3088241Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF325689 mRNA Translation: AAG50280.1
AK055702 mRNA Translation: BAB70990.1
AK314251 mRNA Translation: BAG36917.1
BC004822 mRNA Translation: AAH04822.1
BC013427 mRNA Translation: AAH13427.2
CCDSiCCDS8466.1
RefSeqiNP_001258914.1, NM_001271985.1
NP_112597.3, NM_031307.3
UniGeneiHs.660922

Genome annotation databases

EnsembliENST00000227474; ENSP00000227474; ENSG00000110060
ENST00000530811; ENSP00000432386; ENSG00000110060
GeneIDi83480
KEGGihsa:83480
UCSCiuc001qcy.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPUS3_HUMAN
AccessioniPrimary (citable) accession number: Q9BZE2
Secondary accession number(s): B2RAM0
, Q96D17, Q96J23, Q96NB4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: February 20, 2007
Last modified: June 20, 2018
This is version 129 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. SIMILARITY comments
    Index of protein domains and families

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