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Protein

Mitochondrial mRNA pseudouridine synthase RPUSD3

Gene

RPUSD3

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

Functioni

Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs), a post-transcriptional modification necessary for their translation. Acts at position 390 in COXI mt-mRNA and at position 697-699 in mitochondrial COXIII mt-mRNA (PubMed:27974379). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and may play a role in mitochondrial ribosome biogenesis (PubMed:27667664).2 Publications

Caution

It is uncertain whether Met-1 or Met-9 is the initiator.Curated

Catalytic activityi

mRNA uridine = mRNA pseudouridine.1 Publication

GO - Molecular functioni

GO - Biological processi

  • mRNA processing Source: UniProtKB-KW
  • positive regulation of mitochondrial translation Source: UniProtKB
  • pseudouridine synthesis Source: InterPro

Keywordsi

Molecular functionIsomerase
Biological processmRNA processing

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial mRNA pseudouridine synthase RPUSD3 (EC:5.4.99.-1 Publication)
Alternative name(s):
RNA pseudouridylate synthase domain-containing protein 3
Gene namesi
Name:RPUSD31 PublicationImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000156990.14
HGNCiHGNC:28437 RPUSD3
MIMi617759 gene
neXtProtiNX_Q6P087

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

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000156990
PharmGKBiPA134924883

Polymorphism and mutation databases

BioMutaiRPUSD3
DMDMi294862493

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 25MitochondrionSequence analysisAdd BLAST25
ChainiPRO_000030082226 – 351Mitochondrial mRNA pseudouridine synthase RPUSD3Add BLAST326

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei71PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6P087
MaxQBiQ6P087
PaxDbiQ6P087
PeptideAtlasiQ6P087
PRIDEiQ6P087
ProteomicsDBi66804
66805 [Q6P087-2]
66806 [Q6P087-3]

PTM databases

iPTMnetiQ6P087
PhosphoSitePlusiQ6P087

Expressioni

Gene expression databases

BgeeiENSG00000156990 Expressed in 198 organ(s), highest expression level in quadriceps femoris
CleanExiHS_RPUSD3
ExpressionAtlasiQ6P087 baseline and differential
GenevisibleiQ6P087 HS

Organism-specific databases

HPAiHPA037551
HPA037552

Interactioni

Subunit structurei

Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi130092, 34 interactors
IntActiQ6P087, 8 interactors
MINTiQ6P087
STRINGi9606.ENSP00000373331

Structurei

3D structure databases

ProteinModelPortaliQ6P087
SMRiQ6P087
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the pseudouridine synthase RluA family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1919 Eukaryota
COG0564 LUCA
GeneTreeiENSGT00530000063800
HOGENOMiHOG000082513
HOVERGENiHBG098171
InParanoidiQ6P087
KOiK22537
OMAiDWTCKQL
OrthoDBiEOG091G0LFU
PhylomeDBiQ6P087
TreeFamiTF337899

Family and domain databases

CDDicd02869 PseudoU_synth_RluCD_like, 1 hit
InterProiView protein in InterPro
IPR020103 PsdUridine_synth_cat_dom_sf
IPR006145 PsdUridine_synth_RsuA/RluD
PfamiView protein in Pfam
PF00849 PseudoU_synth_2, 1 hit
SUPFAMiSSF55120 SSF55120, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6P087-1) [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
MRAVLAREMD GRRVLGRFWS GWRRGLGVRP VPEDAGFGTE ARHQRQPRGS
60 70 80 90 100
CQRSGPLGDQ PFAGLLPKNL SREELVDALR AAVVDRKGPL VTLNKPQGLP
110 120 130 140 150
VTGKPGELTL FSVLPELSQS LGLREQELQV VRASGKESSG LVLLSSCPQT
160 170 180 190 200
ASRLQKYFTH ARRAQRPTAT YCAVTDGIPA ASEGKIQAAL KLEHIDGVNL
210 220 230 240 250
TVPVKAPSRK DILEGVKKTL SHFRVVATGS GCALVQLQPL TVFSSQLQVH
260 270 280 290 300
MVLQLCPVLG DHMYSARVGT VLGQRFLLPA ENNKPQRQVL DEALLRRLHL
310 320 330 340 350
TPSQAAQLPL HLHLHRLLLP GTRARDTPVE LLAPLPPYFS RTLQCLGLRL

Q
Length:351
Mass (Da):38,461
Last modified:April 20, 2010 - v3
Checksum:i7C308C9C56AC5C4F
GO
Isoform 2 (identifier: Q6P087-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-103: Missing.

Show »
Length:336
Mass (Da):36,945
Checksum:i08B64193A39A9F85
GO
Isoform 3 (identifier: Q6P087-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     137-351: Missing.

Show »
Length:136
Mass (Da):14,887
Checksum:iA77135FAE7C54D11
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JM75C9JM75_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
212Annotation score:
H7C454H7C454_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
246Annotation score:
H7C1H7H7C1H7_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
280Annotation score:
H7C2C3H7C2C3_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
144Annotation score:
H7C0K7H7C0K7_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
151Annotation score:
H7C0R9H7C0R9_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
102Annotation score:
H7C0K9H7C0K9_HUMAN
Mitochondrial mRNA pseudouridine sy...
RPUSD3
36Annotation score:

Sequence cautioni

The sequence AAH62362 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH65741 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03488534D → H1 PublicationCorresponds to variant dbSNP:rs17855991Ensembl.1
Natural variantiVAR_059763173A → P. Corresponds to variant dbSNP:rs34244989Ensembl.1
Natural variantiVAR_034886181A → P. Corresponds to variant dbSNP:rs34244989Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02787089 – 103Missing in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_027869137 – 351Missing in isoform 3. 1 PublicationAdd BLAST215

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092026 mRNA Translation: BAC03794.1
AK299556 mRNA Translation: BAG61501.1
AC018809 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64008.1
BC032135 mRNA Translation: AAH32135.1
BC062362 mRNA Translation: AAH62362.1 Different initiation.
BC065741 mRNA Translation: AAH65741.1 Different initiation.
CCDSiCCDS2586.2 [Q6P087-1]
CCDS46744.1 [Q6P087-2]
RefSeqiNP_001136019.1, NM_001142547.1 [Q6P087-2]
NP_775930.2, NM_173659.3 [Q6P087-1]
UniGeneiHs.33719

Genome annotation databases

EnsembliENST00000383820; ENSP00000373331; ENSG00000156990 [Q6P087-1]
ENST00000433535; ENSP00000398921; ENSG00000156990 [Q6P087-2]
GeneIDi285367
KEGGihsa:285367
UCSCiuc011atk.3 human [Q6P087-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092026 mRNA Translation: BAC03794.1
AK299556 mRNA Translation: BAG61501.1
AC018809 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64008.1
BC032135 mRNA Translation: AAH32135.1
BC062362 mRNA Translation: AAH62362.1 Different initiation.
BC065741 mRNA Translation: AAH65741.1 Different initiation.
CCDSiCCDS2586.2 [Q6P087-1]
CCDS46744.1 [Q6P087-2]
RefSeqiNP_001136019.1, NM_001142547.1 [Q6P087-2]
NP_775930.2, NM_173659.3 [Q6P087-1]
UniGeneiHs.33719

3D structure databases

ProteinModelPortaliQ6P087
SMRiQ6P087
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130092, 34 interactors
IntActiQ6P087, 8 interactors
MINTiQ6P087
STRINGi9606.ENSP00000373331

PTM databases

iPTMnetiQ6P087
PhosphoSitePlusiQ6P087

Polymorphism and mutation databases

BioMutaiRPUSD3
DMDMi294862493

Proteomic databases

EPDiQ6P087
MaxQBiQ6P087
PaxDbiQ6P087
PeptideAtlasiQ6P087
PRIDEiQ6P087
ProteomicsDBi66804
66805 [Q6P087-2]
66806 [Q6P087-3]

Protocols and materials databases

DNASUi285367
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000383820; ENSP00000373331; ENSG00000156990 [Q6P087-1]
ENST00000433535; ENSP00000398921; ENSG00000156990 [Q6P087-2]
GeneIDi285367
KEGGihsa:285367
UCSCiuc011atk.3 human [Q6P087-1]

Organism-specific databases

CTDi285367
EuPathDBiHostDB:ENSG00000156990.14
GeneCardsiRPUSD3
HGNCiHGNC:28437 RPUSD3
HPAiHPA037551
HPA037552
MIMi617759 gene
neXtProtiNX_Q6P087
OpenTargetsiENSG00000156990
PharmGKBiPA134924883
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1919 Eukaryota
COG0564 LUCA
GeneTreeiENSGT00530000063800
HOGENOMiHOG000082513
HOVERGENiHBG098171
InParanoidiQ6P087
KOiK22537
OMAiDWTCKQL
OrthoDBiEOG091G0LFU
PhylomeDBiQ6P087
TreeFamiTF337899

Miscellaneous databases

GenomeRNAii285367
PROiPR:Q6P087
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156990 Expressed in 198 organ(s), highest expression level in quadriceps femoris
CleanExiHS_RPUSD3
ExpressionAtlasiQ6P087 baseline and differential
GenevisibleiQ6P087 HS

Family and domain databases

CDDicd02869 PseudoU_synth_RluCD_like, 1 hit
InterProiView protein in InterPro
IPR020103 PsdUridine_synth_cat_dom_sf
IPR006145 PsdUridine_synth_RsuA/RluD
PfamiView protein in Pfam
PF00849 PseudoU_synth_2, 1 hit
SUPFAMiSSF55120 SSF55120, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRUSD3_HUMAN
AccessioniPrimary (citable) accession number: Q6P087
Secondary accession number(s): B4DS39
, Q6P6A9, Q8N1B2, Q8NAV3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: April 20, 2010
Last modified: November 7, 2018
This is version 115 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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