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Protein

Mitochondrial mRNA pseudouridine synthase RPUSD3

Gene

RPUSD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Major enzyme responsible for the conversion of uridine to pseudouridine (PSI) at position 390 in mitochondrial COXI (MT-CO1) mRNA and at position 697-699 in mitochondrial COXIII (MT-CO3) mRNA, modulating the efficiency of mitochondrial protein synthesis without changes in transcript abundance or stability.1 Publication

GO - Molecular functioni

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

GO - Biological processi

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:RPUSD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000156990.14.
HGNCiHGNC:28437. RPUSD3.

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.

PTM databases

iPTMnetiQ6P087.
PhosphoSitePlusiQ6P087.

Expressioni

Gene expression databases

BgeeiENSG00000156990.
CleanExiHS_RPUSD3.
ExpressionAtlasiQ6P087. baseline and differential.
GenevisibleiQ6P087. HS.

Organism-specific databases

HPAiHPA037551.
HPA037552.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi130092. 34 interactors.
IntActiQ6P087. 8 interactors.
MINTiMINT-8052420.
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.
OMAiQKFFTHS.
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. 2 hits.

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

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

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

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 22, 2017
This is version 108 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families